#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
GNA15	2769	broad.mit.edu	37	19	3151776	3151776	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr19:3151776G>A	ENST00000262958.3	+	4	815	c.557G>A	c.(556-558)cGc>cAc	p.R186H	AC005264.2_ENST00000587587.1_RNA	NM_002068.2	NP_002059.2	P30679	GNA15_HUMAN	guanine nucleotide binding protein (G protein), alpha 15 (Gq class)	186					activation of phospholipase C activity (GO:0007202)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	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)	p.R186H(1)		large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		CTCCGCAGCCGCATGCCCACC	0.647																																						ENST00000262958.3																			1	Substitution - Missense(1)	p.R186H(1)	lung(1)	large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(556-558)cGc>cAc		guanine nucleotide binding protein (G protein), alpha 15 (Gq class)							116.0	99.0	105.0					19																	3151776		2203	4300	6503	SO:0001583	missense	2769				activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr19:3151776G>A		CCDS12104.1	19p13.3	2008-07-16				ENSG00000060558			4383	protein-coding gene	gene with protein product		139314				1302014	Standard	NM_002068		Approved	GNA16	uc002lxf.2	P30679		ENST00000262958.3:c.557G>A	19.37:g.3151776G>A	ENSP00000262958:p.Arg186His					AC005264.2_ENST00000587587.1_RNA	p.R186H	NM_002068.2	NP_002059.2	P30679	GNA15_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)	4	815	+		Hepatocellular(1079;0.137)	186					E9KL40|E9KL47|O75247|Q53XK2	Missense_Mutation	SNP	ENST00000262958.3	37	c.557G>A	CCDS12104.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.974513	0.92919	.	.	ENSG00000060558	ENST00000262958	T	0.65916	-0.18	4.59	4.59	0.56863	G protein alpha subunit, helical insertion (1);	0.000000	0.85682	U	0.000000	D	0.84202	0.5420	H	0.94925	3.6	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.89005	0.3424	10	0.87932	D	0	.	14.9063	0.70721	0.0:0.0:1.0:0.0	.	186	P30679	GNA15_HUMAN	H	186	ENSP00000262958:R186H	ENSP00000262958:R186H	R	+	2	0	GNA15	3102776	0.993000	0.37304	1.000000	0.80357	0.946000	0.59487	5.184000	0.65070	2.093000	0.63338	0.546000	0.68486	CGC		0.647	GNA15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452320.2	NM_002068		4	164	0	0	0	1	0	4	164				
NTNG1	22854	broad.mit.edu	37	1	107979367	107979367	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr1:107979367G>A	ENST00000370068.1	+	7	2182	c.1336G>A	c.(1336-1338)Ggg>Agg	p.G446R	NTNG1_ENST00000370074.4_Intron|NTNG1_ENST00000370067.1_Intron|NTNG1_ENST00000370073.2_Missense_Mutation_p.G446R|NTNG1_ENST00000370065.1_Intron|NTNG1_ENST00000370071.2_Intron|NTNG1_ENST00000370070.2_Intron|NTNG1_ENST00000542803.1_Missense_Mutation_p.G446R|NTNG1_ENST00000370066.1_Intron|NTNG1_ENST00000370061.3_Missense_Mutation_p.G412R|NTNG1_ENST00000370072.3_Intron			Q9Y2I2	NTNG1_HUMAN	netrin G1	446	Laminin EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		TGGAACAACAGGGCCTAAGTG	0.493																																						ENST00000370068.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37						c.(1336-1338)Ggg>Agg		netrin G1							192.0	163.0	172.0					1																	107979367		1568	3582	5150	SO:0001583	missense	22854				axonogenesis	anchored to plasma membrane	protein binding	g.chr1:107979367G>A	AB023193	CCDS30785.1, CCDS44179.1, CCDS44180.1	1p13.2-p13.1	2013-03-01			ENSG00000162631	ENSG00000162631		"""Netrins"""	23319	protein-coding gene	gene with protein product	"""netrin G1f"", ""Netrin-G1"""	608818				10964959	Standard	NM_001113226		Approved	KIAA0976, Lmnt1	uc001dvh.4	Q9Y2I2	OTTHUMG00000010965	ENST00000370068.1:c.1336G>A	1.37:g.107979367G>A	ENSP00000359085:p.Gly446Arg					NTNG1_ENST00000542803.1_Missense_Mutation_p.G446R|NTNG1_ENST00000370061.3_Missense_Mutation_p.G412R|NTNG1_ENST00000370065.1_Intron|NTNG1_ENST00000370066.1_Intron|NTNG1_ENST00000370067.1_Intron|NTNG1_ENST00000370070.2_Intron|NTNG1_ENST00000370074.4_Intron|NTNG1_ENST00000370071.2_Intron|NTNG1_ENST00000370072.3_Intron|NTNG1_ENST00000370073.2_Missense_Mutation_p.G446R	p.G446R			Q9Y2I2	NTNG1_HUMAN		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)	7	2182	+		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)	446			Laminin EGF-like 3.		Q5VU86|Q5VU87|Q5VU89|Q5VU90|Q5VU91|Q7Z2Y3|Q8N633	Missense_Mutation	SNP	ENST00000370068.1	37	c.1336G>A	CCDS44180.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.143444	0.77888	.	.	ENSG00000162631	ENST00000370073;ENST00000542803;ENST00000370061;ENST00000370064;ENST00000370062;ENST00000370068	D;D;D;D	0.85629	-2.01;-2.01;-2.01;-2.01	5.87	5.87	0.94306	EGF-like, laminin (3);EGF-like region, conserved site (1);	0.000000	0.64402	D	0.000007	D	0.93559	0.7944	H	0.97265	3.97	0.80722	D	1	B;D	0.62365	0.151;0.991	B;P	0.59288	0.09;0.855	D	0.94778	0.7951	10	0.87932	D	0	.	13.7487	0.62894	0.0701:0.0:0.9299:0.0	.	412;446	B4DKF0;Q9Y2I2	.;NTNG1_HUMAN	R	446;446;412;249;193;446	ENSP00000359090:G446R;ENSP00000440561:G446R;ENSP00000359078:G412R;ENSP00000359085:G446R	ENSP00000359078:G412R	G	+	1	0	NTNG1	107780890	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.637000	0.83313	2.941000	0.99782	0.655000	0.94253	GGG		0.493	NTNG1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000030340.1	NM_014917		9	44	0	0	0	1	0	9	44				
METTL22	79091	broad.mit.edu	37	16	8722952	8722952	+	Missense_Mutation	SNP	G	G	A	rs368070440		TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr16:8722952G>A	ENST00000381920.3	+	3	757	c.499G>A	c.(499-501)Gat>Aat	p.D167N	METTL22_ENST00000561758.1_Missense_Mutation_p.D111N	NM_024109.2	NP_077014.2	Q9BUU2	MET22_HUMAN	methyltransferase like 22	167						nucleus (GO:0005634)	methyltransferase activity (GO:0008168)			large_intestine(5)|lung(4)	9						CAGCCCGCACGATATCATCAG	0.542																																						ENST00000381920.3																			0				large_intestine(5)|lung(4)	9						c.(499-501)Gat>Aat		methyltransferase like 22							194.0	203.0	200.0					16																	8722952		2113	4227	6340	SO:0001583	missense	79091						methyltransferase activity	g.chr16:8722952G>A	AK022495	CCDS10533.2	16p13.2	2014-07-15	2011-03-03	2011-03-03	ENSG00000067365	ENSG00000067365			28368	protein-coding gene	gene with protein product		615261	"""chromosome 16 open reading frame 68"""	C16orf68		24140279	Standard	XM_005255570		Approved	FLJ12433,MGC2654	uc002cyz.3	Q9BUU2	OTTHUMG00000129694	ENST00000381920.3:c.499G>A	16.37:g.8722952G>A	ENSP00000371345:p.Asp167Asn					METTL22_ENST00000561758.1_Missense_Mutation_p.D111N	p.D167N	NM_024109.2	NP_077014.2	Q9BUU2	MET22_HUMAN			3	757	+			167					B2RD29|D3DUF2|Q6XYB4|Q9HA03	Missense_Mutation	SNP	ENST00000381920.3	37	c.499G>A	CCDS10533.2	.	.	.	.	.	.	.	.	.	.	G	9.795	1.178864	0.21787	.	.	ENSG00000067365	ENST00000381920;ENST00000163678	T;T	0.51071	2.25;0.72	5.43	-10.1	0.00402	.	1.524060	0.03792	N	0.263029	T	0.27524	0.0676	N	0.16656	0.425	0.09310	N	1	B	0.12630	0.006	B	0.12837	0.008	T	0.12142	-1.0559	10	0.30078	T	0.28	-25.3854	11.2479	0.49008	0.3522:0.0962:0.5516:0.0	.	167	Q9BUU2	MET22_HUMAN	N	167	ENSP00000371345:D167N;ENSP00000163678:D167N	ENSP00000163678:D167N	D	+	1	0	METTL22	8630453	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.244000	0.08903	-1.733000	0.01357	-1.036000	0.02392	GAT		0.542	METTL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251901.1	NM_024109		88	343	0	0	0	1	0	88	343				
TRIB2	28951	broad.mit.edu	37	2	12880670	12880670	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr2:12880670C>T	ENST00000155926.4	+	3	2201	c.782C>T	c.(781-783)tCc>tTc	p.S261F	TRIB2_ENST00000381465.2_Missense_Mutation_p.S125F	NM_021643.3	NP_067675.1			tribbles pseudokinase 2											breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GAACCCAGCTCCCTCTTCAGC	0.597																																						ENST00000155926.4																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19						c.(781-783)tCc>tTc		tribbles pseudokinase 2							92.0	66.0	74.0					2																	12880670		2203	4300	6503	SO:0001583	missense	28951				negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity	g.chr2:12880670C>T	AY245544	CCDS1683.1	2p25.1	2013-10-03	2013-10-03		ENSG00000071575	ENSG00000071575			30809	protein-coding gene	gene with protein product		609462	"""tribbles homolog 2 (Drosophila)"""			12736262, 17097562, 16715410	Standard	NM_021643		Approved	TRB2, GS3955	uc002rbv.4	Q92519	OTTHUMG00000090575	ENST00000155926.4:c.782C>T	2.37:g.12880670C>T	ENSP00000155926:p.Ser261Phe					TRIB2_ENST00000381465.2_Missense_Mutation_p.S125F	p.S261F	NM_021643.3	NP_067675.1	Q92519	TRIB2_HUMAN			3	2201	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		261			Protein kinase.			Missense_Mutation	SNP	ENST00000155926.4	37	c.782C>T	CCDS1683.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.386465	0.82902	.	.	ENSG00000071575	ENST00000155926;ENST00000381465	T;T	0.74526	-0.85;-0.85	5.94	5.94	0.96194	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.82499	0.5050	L	0.55213	1.73	0.80722	D	1	D	0.58620	0.983	P	0.58928	0.848	T	0.82744	-0.0306	10	0.66056	D	0.02	-26.9357	19.354	0.94404	0.0:1.0:0.0:0.0	.	261	Q92519	TRIB2_HUMAN	F	261;125	ENSP00000155926:S261F;ENSP00000370874:S125F	ENSP00000155926:S261F	S	+	2	0	TRIB2	12798121	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.820000	0.97059	0.650000	0.86243	TCC		0.597	TRIB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207114.2	NM_021643		11	47	0	0	0	1	0	11	47				
VPREB1	7441	broad.mit.edu	37	22	22599470	22599470	+	Silent	SNP	C	C	T			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr22:22599470C>T	ENST00000403807.3	+	2	298	c.159C>T	c.(157-159)agC>agT	p.S53S	VPREB1_ENST00000302273.2_Silent_p.S52S			P12018	VPREB_HUMAN	pre-B lymphocyte 1	53	Complementarity-determining-1.|Ig-like V-type.									large_intestine(1)|liver(1)|lung(6)|skin(1)	9	all_hematologic(9;0.0312)|Acute lymphoblastic leukemia(84;0.155)	all_cancers(3;3.14e-14)|Acute lymphoblastic leukemia(3;2.97e-57)|all_hematologic(3;5.9e-52)		READ - Rectum adenocarcinoma(21;0.145)		GTGTGTACAGCGTCTACTGGT	0.627																																						ENST00000403807.3																			0				large_intestine(1)|liver(1)|lung(6)|skin(1)	9						c.(157-159)agC>agT		pre-B lymphocyte 1							100.0	101.0	101.0					22																	22599470		2203	4300	6503	SO:0001819	synonymous_variant	7441				immune response	extracellular region	antigen binding|protein binding	g.chr22:22599470C>T	M34927	CCDS13798.1	22q11.2	2014-05-16	2008-09-12		ENSG00000169575	ENSG00000169575		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	12709	protein-coding gene	gene with protein product		605141				3139558	Standard	NM_007128		Approved	VpreB, CD179A	uc002zvx.1	P12018	OTTHUMG00000151042	ENST00000403807.3:c.159C>T	22.37:g.22599470C>T						VPREB1_ENST00000302273.2_Silent_p.S52S	p.S53S			P12018	VPREB_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	2	298	+	all_hematologic(9;0.0312)|Acute lymphoblastic leukemia(84;0.155)	all_cancers(3;3.14e-14)|Acute lymphoblastic leukemia(3;2.97e-57)|all_hematologic(3;5.9e-52)	53			Complementarity-determining-1.|Ig-like V-type.		B5MCG2	Silent	SNP	ENST00000403807.3	37	c.159C>T	CCDS13798.1																																																																																				0.627	VPREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321101.1			24	111	0	0	0	1	0	24	111				
EPS15L1	58513	broad.mit.edu	37	19	16514682	16514682	+	Silent	SNP	G	G	A	rs76985523	byFrequency	TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr19:16514682G>A	ENST00000248070.6	-	15	1627	c.1488C>T	c.(1486-1488)gaC>gaT	p.D496D	EPS15L1_ENST00000602009.1_Silent_p.D342D|EPS15L1_ENST00000594975.1_Silent_p.D496D|EPS15L1_ENST00000597937.1_Silent_p.D496D|EPS15L1_ENST00000455140.2_Silent_p.D496D|EPS15L1_ENST00000535753.2_Silent_p.D496D	NM_021235.2	NP_067058.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	496					endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	clathrin coat of coated pit (GO:0030132)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						GGTTCAGATCGTCTTCCTGGG	0.478													g|||	15	0.00299521	0.0	0.0	5008	,	,		20264	0.0149		0.0	False		,,,				2504	0.0					ENST00000602009.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						c.(1024-1026)gaC>gaT		epidermal growth factor receptor pathway substrate 15-like 1							149.0	130.0	136.0					19																	16514682		2203	4300	6503	SO:0001819	synonymous_variant	58513				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding	g.chr19:16514682G>A	AF110265	CCDS32944.1, CCDS58653.1, CCDS58654.1, CCDS59363.1	19p13.12	2013-01-10				ENSG00000127527		"""EF-hand domain containing"""	24634	protein-coding gene	gene with protein product							Standard	NM_001258374		Approved	eps15R	uc002ndx.4	Q9UBC2		ENST00000248070.6:c.1488C>T	19.37:g.16514682G>A						EPS15L1_ENST00000594975.1_Silent_p.D496D|EPS15L1_ENST00000597937.1_Silent_p.D496D|EPS15L1_ENST00000535753.2_Silent_p.D496D|EPS15L1_ENST00000455140.2_Silent_p.D496D|EPS15L1_ENST00000248070.6_Silent_p.D496D	p.D342D			Q9UBC2	EP15R_HUMAN			9	1921	-			496			EH 3.		A2RRF3|A5PL29|B4DKA3	Silent	SNP	ENST00000248070.6	37	c.1026C>T	CCDS32944.1																																																																																				0.478	EPS15L1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461040.1	NM_021235		4	56	0	0	0	1	0	4	56				
TGFBR2	7048	broad.mit.edu	37	3	30729917	30729917	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr3:30729917G>T	ENST00000295754.5	+	6	1820	c.1438G>T	c.(1438-1440)Gag>Tag	p.E480*	TGFBR2_ENST00000359013.4_Nonsense_Mutation_p.E505*	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	480	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						CAAGGTGCGGGAGCACCCCTG	0.507																																						ENST00000295754.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						c.(1438-1440)Gag>Tag		transforming growth factor, beta receptor II (70/80kDa)							126.0	118.0	121.0					3																	30729917		2203	4300	6503	SO:0001587	stop_gained	7048				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	g.chr3:30729917G>T		CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"""transforming growth factor, beta receptor II (70-80kD)"""	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.1438G>T	3.37:g.30729917G>T	ENSP00000295754:p.Glu480*					TGFBR2_ENST00000359013.4_Nonsense_Mutation_p.E505*	p.E480*	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN			6	1820	+			480			Protein kinase.		B4DTV5|Q15580|Q6DKT6|Q99474	Nonsense_Mutation	SNP	ENST00000295754.5	37	c.1438G>T	CCDS2648.1	.	.	.	.	.	.	.	.	.	.	G	42	9.400207	0.99159	.	.	ENSG00000163513	ENST00000295754;ENST00000359013;ENST00000439925	.	.	.	5.38	4.51	0.55191	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	14.2619	0.66090	0.0722:0.0:0.9278:0.0	.	.	.	.	X	480;505;310	.	ENSP00000295754:E480X	E	+	1	0	TGFBR2	30704921	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.833000	0.86765	1.404000	0.46819	0.591000	0.81541	GAG		0.507	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252994.2			31	83	1	0	6.00712e-18	1	6.67458e-18	31	83				
TOX3	27324	broad.mit.edu	37	16	52484404	52484404	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr16:52484404G>A	ENST00000219746.9	-	4	747	c.463C>T	c.(463-465)Cgg>Tgg	p.R155W	TOX3_ENST00000407228.3_Missense_Mutation_p.R150W	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	155					apoptotic process (GO:0006915)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)	p.R155W(1)|p.R150W(1)		NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						ACGATGGACCGCATGATCAGG	0.562																																						ENST00000219746.9																			2	Substitution - Missense(2)	p.R155W(1)|p.R150W(1)	kidney(2)	NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						c.(463-465)Cgg>Tgg		TOX high mobility group box family member 3							91.0	97.0	95.0					16																	52484404		2091	4210	6301	SO:0001583	missense	27324				apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity	g.chr16:52484404G>A	U80736	CCDS54008.1, CCDS54009.1	16q12.1	2008-02-05	2007-03-20	2007-03-20		ENSG00000103460		"""Trinucleotide (CAG) repeat containing"""	11972	protein-coding gene	gene with protein product		611416	"""trinucleotide repeat containing 9"""	TNRC9		9225980	Standard	NM_001080430		Approved	CAGF9	uc002egw.2	O15405		ENST00000219746.9:c.463C>T	16.37:g.52484404G>A	ENSP00000219746:p.Arg155Trp					TOX3_ENST00000407228.3_Missense_Mutation_p.R150W	p.R155W	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN			4	747	-			155					B4DRD0|B5MCW4	Missense_Mutation	SNP	ENST00000219746.9	37	c.463C>T	CCDS54009.1	.	.	.	.	.	.	.	.	.	.	G	14.03	2.413193	0.42817	.	.	ENSG00000103460	ENST00000219746;ENST00000407228	T;T	0.42900	0.96;0.96	5.85	4.76	0.60689	.	0.174050	0.49916	D	0.000122	T	0.59252	0.2180	M	0.68952	2.095	0.48040	D	0.999571	D;D	0.89917	1.0;1.0	D;D	0.63283	0.913;0.913	T	0.62191	-0.6906	10	0.66056	D	0.02	.	13.1115	0.59277	0.0:0.0:0.1397:0.8602	.	150;155	B4DRD0;O15405	.;TOX3_HUMAN	W	155;150	ENSP00000219746:R155W;ENSP00000385705:R150W	ENSP00000219746:R155W	R	-	1	2	TOX3	51041905	1.000000	0.71417	1.000000	0.80357	0.006000	0.05464	2.633000	0.46519	1.049000	0.40321	-0.457000	0.05445	CGG		0.562	TOX3-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000422534.1	XM_049037		5	122	0	0	0	1	0	5	122				
PRKAR1B	5575	broad.mit.edu	37	7	618913	618913	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr7:618913C>T	ENST00000406797.1	-	9	1045	c.871G>A	c.(871-873)Gac>Aac	p.D291N	PRKAR1B_ENST00000544935.1_Missense_Mutation_p.D291N|PRKAR1B_ENST00000360274.4_Missense_Mutation_p.D291N|PRKAR1B_ENST00000403562.1_Missense_Mutation_p.D291N|PRKAR1B_ENST00000537384.1_Missense_Mutation_p.D291N	NM_001164761.1	NP_001158233.1	P31321	KAP1_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, beta	291					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)			endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		ATGTAAAAGTCGTCCCCAGGC	0.602																																						ENST00000406797.1																			0				endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17						c.(871-873)Gac>Aac		protein kinase, cAMP-dependent, regulatory, type I, beta							172.0	136.0	148.0					7																	618913		2203	4296	6499	SO:0001583	missense	5575				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity	g.chr7:618913C>T	M65066	CCDS34579.1	7p22.3	2013-09-19			ENSG00000188191	ENSG00000188191	2.7.11.1		9390	protein-coding gene	gene with protein product		176911				1358799, 3479018	Standard	NM_002735		Approved		uc003siw.2	P31321	OTTHUMG00000151411	ENST00000406797.1:c.871G>A	7.37:g.618913C>T	ENSP00000385749:p.Asp291Asn					PRKAR1B_ENST00000403562.1_Missense_Mutation_p.D291N|PRKAR1B_ENST00000544935.1_Missense_Mutation_p.D291N|PRKAR1B_ENST00000537384.1_Missense_Mutation_p.D291N|PRKAR1B_ENST00000360274.4_Missense_Mutation_p.D291N	p.D291N	NM_001164761.1	NP_001158233.1	P31321	KAP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)	9	1045	-		Ovarian(82;0.0779)	291					Q8N422	Missense_Mutation	SNP	ENST00000406797.1	37	c.871G>A	CCDS34579.1	.	.	.	.	.	.	.	.	.	.	C	14.61	2.585663	0.46110	.	.	ENSG00000188191	ENST00000537384;ENST00000544935;ENST00000406797;ENST00000403562;ENST00000360274;ENST00000340920;ENST00000430040	T;T;T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67;-0.67;1.59	5.14	5.14	0.70334	Cyclic nucleotide-binding, conserved site (1);Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	U	0.000000	T	0.55433	0.1920	N	0.11818	0.18	0.80722	D	1	B	0.25563	0.129	B	0.22152	0.038	T	0.54675	-0.8258	10	0.44086	T	0.13	-0.2624	17.406	0.87473	0.0:1.0:0.0:0.0	.	291	P31321	KAP1_HUMAN	N	291;291;291;291;291;56;291	ENSP00000440449:D291N;ENSP00000444487:D291N;ENSP00000385749:D291N;ENSP00000385349:D291N;ENSP00000353415:D291N;ENSP00000402648:D291N	ENSP00000340984:D56N	D	-	1	0	PRKAR1B	585439	1.000000	0.71417	0.999000	0.59377	0.072000	0.16883	6.905000	0.75714	2.390000	0.81377	0.543000	0.68304	GAC		0.602	PRKAR1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322525.1			44	152	0	0	0	1	0	44	152				
PTGDR	5729	broad.mit.edu	37	14	52734574	52734574	+	Silent	SNP	G	G	A			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr14:52734574G>A	ENST00000306051.2	+	1	144	c.42G>A	c.(40-42)gtG>gtA	p.V14V	PTGDR_ENST00000553372.1_Silent_p.V14V	NM_000953.2	NP_000944.1	Q13258	PD2R_HUMAN	prostaglandin D2 receptor (DP)	14					adenosine metabolic process (GO:0046085)|cellular response to prostaglandin D stimulus (GO:0071799)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|male sex determination (GO:0030238)|sleep (GO:0030431)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin D receptor activity (GO:0004956)|prostaglandin J receptor activity (GO:0001785)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	CCACCTCTGTGGAAAAAGGCA	0.701																																						ENST00000306051.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(40-42)gtG>gtA		prostaglandin D2 receptor (DP)	Nedocromil(DB00716)						23.0	24.0	24.0					14																	52734574		2203	4300	6503	SO:0001819	synonymous_variant	5729					integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding	g.chr14:52734574G>A	U31332	CCDS9707.1, CCDS61454.1	14q22.1	2012-08-08			ENSG00000168229	ENSG00000168229		"""GPCR / Class A : Prostanoid receptors"""	9591	protein-coding gene	gene with protein product		604687				7642548	Standard	NM_000953		Approved	DP, DP1, PTGDR1	uc001wzq.3	Q13258	OTTHUMG00000140299	ENST00000306051.2:c.42G>A	14.37:g.52734574G>A						PTGDR_ENST00000553372.1_Silent_p.V14V	p.V14V	NM_000953.2	NP_000944.1	Q13258	PD2R_HUMAN			1	144	+	Breast(41;0.0639)|all_epithelial(31;0.0887)		14					G3V5L3|Q13250|Q13251|Q1ZZ52	Silent	SNP	ENST00000306051.2	37	c.42G>A	CCDS9707.1																																																																																				0.701	PTGDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276889.1	NM_000953		10	16	0	0	0	1	0	10	16				
CACNA1H	8912	broad.mit.edu	37	16	1270859	1270859	+	Missense_Mutation	SNP	G	G	T			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr16:1270859G>T	ENST00000348261.5	+	35	7175	c.6927G>T	c.(6925-6927)gaG>gaT	p.E2309D	CACNA1H_ENST00000358590.4_Missense_Mutation_p.E2303D|CACNA1H_ENST00000565831.1_Missense_Mutation_p.E2303D	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	2309					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	CAGAATCAGAGCCTCCCATGC	0.632																																						ENST00000348261.5																			0				breast(4)|endometrium(5)|kidney(2)|lung(23)	34						c.(6925-6927)gaG>gaT		calcium channel, voltage-dependent, T type, alpha 1H subunit	Flunarizine(DB04841)|Mibefradil(DB01388)						69.0	76.0	74.0					16																	1270859		1837	4083	5920	SO:0001583	missense	8912				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr16:1270859G>T	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.6927G>T	16.37:g.1270859G>T	ENSP00000334198:p.Glu2309Asp					CACNA1H_ENST00000358590.4_Missense_Mutation_p.E2303D|CACNA1H_ENST00000565831.1_Missense_Mutation_p.E2303D	p.E2309D	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN			35	7175	+		Hepatocellular(780;0.00369)	2309					B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	ENST00000348261.5	37	c.6927G>T	CCDS45375.1	.	.	.	.	.	.	.	.	.	.	g	11.01	1.512116	0.27036	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.96651	-4.08;-4.03	3.85	1.73	0.24493	.	44.576900	0.00166	N	0.000000	D	0.95934	0.8676	N	0.24115	0.695	0.09310	N	1	B;D;D;D;B	0.61697	0.002;0.984;0.984;0.99;0.006	B;D;D;D;B	0.73380	0.002;0.956;0.956;0.98;0.003	D	0.88172	0.2865	10	0.36615	T	0.2	.	5.5672	0.17177	0.1155:0.2037:0.6808:0.0	.	1055;1033;1039;2303;2309	A2SX38;A2SX35;A2SX37;O95180-2;O95180	.;.;.;.;CAC1H_HUMAN	D	2309;2303	ENSP00000334198:E2309D;ENSP00000351401:E2303D	ENSP00000334198:E2309D	E	+	3	2	CACNA1H	1210860	0.007000	0.16637	0.006000	0.13384	0.145000	0.21501	-0.797000	0.04570	0.246000	0.21394	0.580000	0.79431	GAG		0.632	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		42	143	1	0	1.02067e-35	1	1.16648e-35	42	143				
PLIN5	440503	broad.mit.edu	37	19	4523694	4523694	+	Missense_Mutation	SNP	G	G	A	rs201112241	byFrequency	TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr19:4523694G>A	ENST00000381848.3	-	8	1318	c.1238C>T	c.(1237-1239)cCg>cTg	p.P413L		NM_001013706.2	NP_001013728.2	Q00G26	PLIN5_HUMAN	perilipin 5	413	Interaction with PNPLA2 and ABHD5. {ECO:0000250}.				lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|mitochondrion localization (GO:0051646)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of lipase activity (GO:0060192)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of triglyceride catabolic process (GO:0010897)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of lipase activity (GO:0060193)|positive regulation of lipid storage (GO:0010884)|positive regulation of sequestering of triglyceride (GO:0010890)|positive regulation of triglyceride biosynthetic process (GO:0010867)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						CTGCTGGGCCGGCCAGTCCAG	0.706													G|||	10	0.00199681	0.0023	0.0	5008	,	,		12613	0.002		0.005	False		,,,				2504	0.0					ENST00000381848.3																			0				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						c.(1237-1239)cCg>cTg		perilipin 5		G	LEU/PRO	4,3926		0,4,1961	51.0	60.0	57.0		1238	2.2	1.0	19		57	13,8245		0,13,4116	yes	missense	PLIN5	NM_001013706.2	98	0,17,6077	AA,AG,GG		0.1574,0.1018,0.1395	benign	413/464	4523694	17,12171	1965	4129	6094	SO:0001583	missense	440503					lipid particle		g.chr19:4523694G>A	DQ839131	CCDS42473.1	19p13.3	2009-08-12			ENSG00000214456	ENSG00000214456		"""Perilipins"""	33196	protein-coding gene	gene with protein product	"""lipid storage droplet protein 5"""	613248				17234449, 19638644	Standard	NM_001013706		Approved	LSDP5, LSDA5, OXPAT, MLDP	uc002mas.3	Q00G26		ENST00000381848.3:c.1238C>T	19.37:g.4523694G>A	ENSP00000371272:p.Pro413Leu						p.P413L	NM_001013706.2	NP_001013728.2	Q00G26	PLIN5_HUMAN			8	1318	-			413					A2RRC1|Q6ZS68	Missense_Mutation	SNP	ENST00000381848.3	37	c.1238C>T	CCDS42473.1	7	0.003205128205128205	3	0.006097560975609756	0	0.0	2	0.0034965034965034965	2	0.002638522427440633	G	13.34	2.207843	0.39003	0.001018	0.001574	ENSG00000214456	ENST00000381848	T	0.11604	2.76	4.69	2.25	0.28309	.	518.572000	0.01698	U	0.027040	T	0.04770	0.0129	N	0.24115	0.695	0.80722	D	1	D	0.53745	0.962	B	0.36719	0.231	T	0.54275	-0.8318	10	0.46703	T	0.11	-29.2784	3.8101	0.08793	0.1316:0.0:0.6253:0.2431	.	413	Q00G26	PLIN5_HUMAN	L	413	ENSP00000371272:P413L	ENSP00000371272:P413L	P	-	2	0	PLIN5	4474694	0.976000	0.34144	0.995000	0.50966	0.472000	0.32918	1.784000	0.38674	2.144000	0.66660	0.561000	0.74099	CCG		0.706	PLIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458647.1	NM_001013706		47	180	0	0	0	1	0	47	180				
VPS13C	54832	broad.mit.edu	37	15	62316042	62316042	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr15:62316042G>A	ENST00000261517.5	-	7	524	c.451C>T	c.(451-453)Cgt>Tgt	p.R151C	VPS13C_ENST00000395898.3_Intron|VPS13C_ENST00000249837.3_Intron|VPS13C_ENST00000395896.4_Missense_Mutation_p.R151C	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TTACGTTTACGTCCTTCACAG	0.328																																						ENST00000261517.5																			0				NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(451-453)Cgt>Tgt		vacuolar protein sorting 13 homolog C (S. cerevisiae)							105.0	104.0	104.0					15																	62316042		2202	4298	6500	SO:0001583	missense	54832				protein localization			g.chr15:62316042G>A	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.451C>T	15.37:g.62316042G>A	ENSP00000261517:p.Arg151Cys					VPS13C_ENST00000249837.3_Intron|VPS13C_ENST00000395898.3_Intron|VPS13C_ENST00000395896.4_Missense_Mutation_p.R151C	p.R151C	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN			7	524	-			151			Lys-rich.			Missense_Mutation	SNP	ENST00000261517.5	37	c.451C>T	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.971497	0.74246	.	.	ENSG00000129003	ENST00000261517;ENST00000395896;ENST00000395898	T;T	0.48201	0.82;0.99	4.98	4.98	0.66077	.	0.083400	0.45867	D	0.000322	T	0.49098	0.1537	N	0.22421	0.69	0.80722	D	1	D;D	0.89917	0.999;1.0	P;P	0.60682	0.878;0.759	T	0.52881	-0.8516	10	0.87932	D	0	.	10.6711	0.45760	0.0903:0.0:0.9097:0.0	.	151;151	Q709C8-2;Q709C8	.;VP13C_HUMAN	C	151	ENSP00000261517:R151C;ENSP00000379233:R151C	ENSP00000261517:R151C	R	-	1	0	VPS13C	60103334	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.778000	0.55371	2.302000	0.77476	0.591000	0.81541	CGT		0.328	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		6	47	0	0	0	1	0	6	47				
TP53	7157	broad.mit.edu	37	17	7579311	7579311	+	Splice_Site	SNP	C	C	A			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr17:7579311C>A	ENST00000269305.4	-	4	565		c.e4+1		TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Splice_Site	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						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.?(26)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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)	GGGCAACTGACCGTGCAAGTC	0.532		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"""		38	Unknown(26)|Whole gene deletion(8)|Deletion - Frameshift(3)|Insertion - In frame(1)	p.?(26)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)	lung(12)|breast(5)|upper_aerodigestive_tract(4)|bone(4)|ovary(3)|large_intestine(2)|central_nervous_system(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|urinary_tract(1)|oesophagus(1)|pancreas(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	CS951538	TP53	S		c.e4+1	Other conserved DNA damage response genes	tumor protein p53							66.0	61.0	63.0					17																	7579311		2203	4300	6503	SO:0001630	splice_region_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.chr17:7579311C>A	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.375+1G>T	17.37:g.7579311C>A		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_ENST00000413465.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000359597.4_Splice_Site		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)	4	508	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)						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	Splice_Site	SNP	ENST00000269305.4	37		CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.954926	0.73902	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	.	.	.	4.3	4.3	0.51218	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6586	0.68852	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7520036	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	6.208000	0.72165	2.403000	0.81681	0.655000	0.94253	.		0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	41	69	1	0	6.45866e-13	1	6.88924e-13	41	69				
MYH2	4620	broad.mit.edu	37	17	10428832	10428832	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr17:10428832C>G	ENST00000245503.5	-	32	4857	c.4473G>C	c.(4471-4473)aaG>aaC	p.K1491N	CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.K1491N|MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1491					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CATAGGCATTCTTTATCTTGA	0.443																																						ENST00000245503.5																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						c.(4471-4473)aaG>aaC		myosin, heavy chain 2, skeletal muscle, adult							81.0	85.0	84.0					17																	10428832		2203	4300	6503	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10428832C>G		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.4473G>C	17.37:g.10428832C>G	ENSP00000245503:p.Lys1491Asn					CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Intron|MYH2_ENST00000397183.2_Missense_Mutation_p.K1491N	p.K1491N	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN			32	4857	-			1491					A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.4473G>C	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.076541	0.76415	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	T;T	0.81163	-1.46;-1.46	5.2	3.22	0.36961	Myosin tail (1);	0.000000	0.41097	U	0.000942	D	0.90106	0.6909	M	0.92317	3.295	0.50039	D	0.999843	D	0.52996	0.957	P	0.62298	0.9	D	0.91024	0.4859	10	0.87932	D	0	.	11.5348	0.50631	0.0:0.8553:0.0:0.1447	.	1491	Q9UKX2	MYH2_HUMAN	N	1491	ENSP00000245503:K1491N;ENSP00000380367:K1491N	ENSP00000245503:K1491N	K	-	3	2	MYH2	10369557	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.929000	0.56514	0.775000	0.33450	0.591000	0.81541	AAG		0.443	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		7	96	0	0	0	1	0	7	96				
POLR2J4	84820	broad.mit.edu	37	7	44005468	44005468	+	RNA	SNP	G	G	A	rs541764772		TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr7:44005468G>A	ENST00000427076.1	-	0	1424				RP5-1165K10.2_ENST00000454572.1_RNA	NR_003655.2				polymerase (RNA) II (DNA directed) polypeptide J4, pseudogene																		GCACTTACTCGTCATGCTGCC	0.667													g|||	1	0.000199681	0.0008	0.0	5008	,	,		9122	0.0		0.0	False		,,,				2504	0.0					ENST00000427076.1																			0																																																			84820							g.chr7:44005468G>A			7p13	2008-08-21			ENSG00000214783	ENSG00000214783			28195	pseudogene	pseudogene						15586814	Standard	NR_003655		Approved	MGC13098	uc010kxw.2		OTTHUMG00000155253		7.37:g.44005468G>A								NR_003655.2						0	1424	-									RNA	SNP	ENST00000427076.1	37																																																																																						0.667	POLR2J4-002	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473169.1	NR_003655		8	23	0	0	0	1	0	8	23				
PCDH9	5101	broad.mit.edu	37	13	67801135	67801135	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr13:67801135C>A	ENST00000377865.2	-	1	1572	c.1438G>T	c.(1438-1440)Gaa>Taa	p.E480*	PCDH9_ENST00000456367.1_Nonsense_Mutation_p.E480*|PCDH9_ENST00000328454.5_Nonsense_Mutation_p.E480*|PCDH9_ENST00000377861.3_Nonsense_Mutation_p.E480*|PCDH9_ENST00000544246.1_Nonsense_Mutation_p.E480*			Q9HC56	PCDH9_HUMAN	protocadherin 9	480	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		CGGTTGTTTTCAGAAACTGAC	0.433																																						ENST00000544246.1																			0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103						c.(1438-1440)Gaa>Taa		protocadherin 9							94.0	95.0	95.0					13																	67801135		2203	4300	6503	SO:0001587	stop_gained	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:67801135C>A	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.1438G>T	13.37:g.67801135C>A	ENSP00000367096:p.Glu480*					PCDH9_ENST00000456367.1_Nonsense_Mutation_p.E480*|PCDH9_ENST00000377865.2_Nonsense_Mutation_p.E480*|PCDH9_ENST00000377861.3_Nonsense_Mutation_p.E480*|PCDH9_ENST00000328454.5_Nonsense_Mutation_p.E480*	p.E480*	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	2	2129	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	480			Cadherin 5.		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Nonsense_Mutation	SNP	ENST00000377865.2	37	c.1438G>T	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	C	35	5.575194	0.96553	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	.	.	.	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.6634	0.99662	0.0:1.0:0.0:0.0	.	.	.	.	X	480	.	ENSP00000332060:E480X	E	-	1	0	PCDH9	66699136	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.894000	0.99253	0.655000	0.94253	GAA		0.433	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		20	73	1	0	5.26018e-13	1	5.68668e-13	20	73				
PLXNA4	91584	broad.mit.edu	37	7	131883335	131883335	+	Silent	SNP	G	G	A			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr7:131883335G>A	ENST00000359827.3	-	13	3609	c.2647C>T	c.(2647-2649)Ctg>Ttg	p.L883L	PLXNA4_ENST00000321063.4_Silent_p.L883L			Q9HCM2	PLXA4_HUMAN	plexin A4	883	IPT/TIG 1.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TCCAGGCCCAGGTTCTCCCCT	0.542																																						ENST00000359827.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						c.(2647-2649)Ctg>Ttg		plexin A4							76.0	79.0	78.0					7																	131883335		1942	4141	6083	SO:0001819	synonymous_variant	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131883335G>A	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.2647C>T	7.37:g.131883335G>A						PLXNA4_ENST00000321063.4_Silent_p.L883L	p.L883L			Q9HCM2	PLXA4_HUMAN			13	3609	-			883			IPT/TIG 1.		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Silent	SNP	ENST00000359827.3	37	c.2647C>T	CCDS43646.1																																																																																				0.542	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		17	54	0	0	0	1	0	17	54				
DARS2	55157	broad.mit.edu	37	1	173822554	173822554	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr1:173822554G>A	ENST00000361951.4	+	14	2139	c.1412G>A	c.(1411-1413)cGt>cAt	p.R471H	DARS2_ENST00000239457.5_Missense_Mutation_p.R53H|DARS2_ENST00000471476.1_3'UTR	NM_018122.4	NP_060592.2	Q6PI48	SYDM_HUMAN	aspartyl-tRNA synthetase 2, mitochondrial	471					gene expression (GO:0010467)|mitochondrial asparaginyl-tRNA aminoacylation (GO:0070145)|tRNA aminoacylation (GO:0043039)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aspartate-tRNA ligase activity (GO:0004815)|aspartate-tRNA(Asn) ligase activity (GO:0050560)|ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)			breast(4)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	30					L-Aspartic Acid(DB00128)	GTGGTGCTCCGTGACCCCACT	0.478																																						ENST00000361951.4																			0				breast(4)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	30						c.(1411-1413)cGt>cAt		aspartyl-tRNA synthetase 2, mitochondrial	L-Aspartic Acid(DB00128)						163.0	157.0	159.0					1																	173822554		2203	4300	6503	SO:0001583	missense	55157				tRNA aminoacylation for protein translation	mitochondrial matrix|nucleus	aspartate-tRNA ligase activity|ATP binding|nucleic acid binding	g.chr1:173822554G>A	AK022754	CCDS1311.1	1q25.1	2011-07-01	2007-02-23		ENSG00000117593	ENSG00000117593	6.1.1.12	"""Aminoacyl tRNA synthetases / Class II"""	25538	protein-coding gene	gene with protein product	"""aspartate tRNA ligase 2, mitochondrial"""	610956				15779907	Standard	NM_018122		Approved	FLJ10514	uc001gjh.2	Q6PI48	OTTHUMG00000034803	ENST00000361951.4:c.1412G>A	1.37:g.173822554G>A	ENSP00000355086:p.Arg471His					DARS2_ENST00000239457.5_Missense_Mutation_p.R53H|DARS2_ENST00000471476.1_3'UTR	p.R471H	NM_018122.4	NP_060592.2	Q6PI48	SYDM_HUMAN			14	2139	+			471						Missense_Mutation	SNP	ENST00000361951.4	37	c.1412G>A	CCDS1311.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.496031	0.85069	.	.	ENSG00000117593	ENST00000361951;ENST00000239457	D;D	0.84660	-1.88;-1.88	5.38	4.46	0.54185	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (D/K/N) (1);	0.000000	0.85682	D	0.000000	D	0.89181	0.6642	M	0.67397	2.05	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89351	0.3661	10	0.56958	D	0.05	-15.4501	13.4868	0.61371	0.0784:0.0:0.9216:0.0	.	471	Q6PI48	SYDM_HUMAN	H	471;53	ENSP00000355086:R471H;ENSP00000239457:R53H	ENSP00000239457:R53H	R	+	2	0	DARS2	172089177	1.000000	0.71417	0.862000	0.33874	0.714000	0.41099	9.589000	0.98235	2.528000	0.85240	0.591000	0.81541	CGT		0.478	DARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084220.1	NM_018122		28	139	0	0	0	1	0	28	139				
CARD11	84433	broad.mit.edu	37	7	2946453	2946453	+	Missense_Mutation	SNP	G	G	A	rs368574818		TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr7:2946453G>A	ENST00000396946.4	-	25	3687	c.3284C>T	c.(3283-3285)aCg>aTg	p.T1095M		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	1095	Guanylate kinase-like.				Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CTCCTCCTCCGTCTCAGGTCG	0.682			Mis		DLBCL																																	ENST00000396946.4				Dom	yes		7	7p22	84433	Mis	"""caspase recruitment domain family, member 11"""			L			DLBCL		0				NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150						c.(3283-3285)aCg>aTg		caspase recruitment domain family, member 11		G	MET/THR	0,4406		0,0,2203	38.0	33.0	35.0		3284	3.0	0.6	7		35	1,8599	1.2+/-3.3	0,1,4299	no	missense	CARD11	NM_032415.4	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	1095/1155	2946453	1,13005	2203	4300	6503	SO:0001583	missense	84433				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	g.chr7:2946453G>A	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.3284C>T	7.37:g.2946453G>A	ENSP00000380150:p.Thr1095Met						p.T1095M	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	25	3687	-		Ovarian(82;0.0115)	1095			Guanylate kinase-like.		A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	ENST00000396946.4	37	c.3284C>T	CCDS5336.2	.	.	.	.	.	.	.	.	.	.	G	11.02	1.516798	0.27123	0.0	1.16E-4	ENSG00000198286	ENST00000396946	T	0.31510	1.49	3.86	2.95	0.34219	.	0.185506	0.37393	N	0.002110	T	0.21307	0.0513	L	0.38175	1.15	0.32329	N	0.561313	D	0.54207	0.965	B	0.42386	0.386	T	0.24657	-1.0154	10	0.41790	T	0.15	-21.172	5.7128	0.17945	0.0932:0.0:0.5606:0.3463	.	1095	Q9BXL7	CAR11_HUMAN	M	1095	ENSP00000380150:T1095M	ENSP00000380150:T1095M	T	-	2	0	CARD11	2912979	1.000000	0.71417	0.618000	0.29105	0.123000	0.20343	5.246000	0.65411	0.583000	0.29574	0.511000	0.50034	ACG		0.682	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		15	25	0	0	0	1	0	15	25				
ALPK2	115701	broad.mit.edu	37	18	56204171	56204171	+	Missense_Mutation	SNP	G	G	T			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr18:56204171G>T	ENST00000361673.3	-	5	3461	c.3248C>A	c.(3247-3249)cCa>cAa	p.P1083Q	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1083						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						GACATGGTGTGGGACTCCTGG	0.493																																						ENST00000361673.3																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						c.(3247-3249)cCa>cAa		alpha-kinase 2							112.0	123.0	119.0					18																	56204171		2203	4300	6503	SO:0001583	missense	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56204171G>T	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.3248C>A	18.37:g.56204171G>T	ENSP00000354991:p.Pro1083Gln					RP11-1151B14.4_ENST00000591360.1_RNA	p.P1083Q	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN			5	3461	-			1083					Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	c.3248C>A	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	G	9.985	1.229249	0.22542	.	.	ENSG00000198796	ENST00000361673	T	0.48201	0.82	5.75	-11.4	0.00090	.	1.354770	0.05896	N	0.629047	T	0.27489	0.0675	N	0.22421	0.69	0.09310	N	1	B;B	0.15719	0.014;0.004	B;B	0.12837	0.008;0.002	T	0.29243	-1.0018	10	0.45353	T	0.12	4.9405	9.8068	0.40797	0.0:0.2808:0.52:0.1992	.	1078;1083	Q86TB3-2;Q86TB3	.;ALPK2_HUMAN	Q	1083	ENSP00000354991:P1083Q	ENSP00000354991:P1083Q	P	-	2	0	ALPK2	54355151	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.186000	0.03070	-2.459000	0.00537	-0.867000	0.03001	CCA		0.493	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		37	144	1	0	6.02846e-25	1	6.79263e-25	37	144				
CELSR1	9620	broad.mit.edu	37	22	46790148	46790148	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr22:46790148G>A	ENST00000262738.3	-	14	5854	c.5855C>T	c.(5854-5856)cCg>cTg	p.P1952L		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1952	EGF-like 7; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TCTGGGGCACGGAAGGTCGAG	0.562																																						ENST00000262738.3																			0				breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95						c.(5854-5856)cCg>cTg		cadherin, EGF LAG seven-pass G-type receptor 1							40.0	39.0	39.0					22																	46790148		2203	4300	6503	SO:0001583	missense	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46790148G>A	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.5855C>T	22.37:g.46790148G>A	ENSP00000262738:p.Pro1952Leu						p.P1952L	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	14	5854	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	1952			EGF-like 7; calcium-binding.		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	c.5855C>T	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	G	17.75	3.466108	0.63625	.	.	ENSG00000075275	ENST00000262738	D	0.91124	-2.79	3.47	3.47	0.39725	.	0.000000	0.64402	U	0.000002	D	0.93877	0.8041	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;0.997	D;P	0.74023	0.982;0.767	D	0.93579	0.6911	10	0.42905	T	0.14	.	14.9317	0.70919	0.0:0.0:1.0:0.0	.	273;1952	B7Z7U7;Q9NYQ6	.;CELR1_HUMAN	L	1952	ENSP00000262738:P1952L	ENSP00000262738:P1952L	P	-	2	0	CELSR1	45168812	1.000000	0.71417	0.991000	0.47740	0.425000	0.31504	7.071000	0.76770	1.663000	0.50791	0.462000	0.41574	CCG		0.562	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		3	48	0	0	0	1	0	3	48				
PCDH11X	27328	broad.mit.edu	37	X	91134209	91134209	+	Silent	SNP	C	C	T			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chrX:91134209C>T	ENST00000373094.1	+	2	3815	c.2970C>T	c.(2968-2970)agC>agT	p.S990S	PCDH11X_ENST00000406881.1_Silent_p.S990S|PCDH11X_ENST00000298274.8_Silent_p.S990S|PCDH11X_ENST00000361724.1_Silent_p.S990S|PCDH11X_ENST00000395337.2_Silent_p.S990S|PCDH11X_ENST00000504220.2_Silent_p.S990S|PCDH11X_ENST00000373088.1_Silent_p.S990S|PCDH11X_ENST00000373097.1_Silent_p.S990S|PCDH11X_ENST00000361655.2_Silent_p.S990S	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	990					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S990S(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						ATCCCTACAGCGTTTCTGACT	0.478																																					NSCLC(38;925 1092 2571 38200 45895)	ENST00000373094.1																			2	Substitution - coding silent(2)	p.S990S(2)	upper_aerodigestive_tract(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(2968-2970)agC>agT		protocadherin 11 X-linked							231.0	177.0	195.0					X																	91134209		2203	4300	6503	SO:0001819	synonymous_variant	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91134209C>T	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.2970C>T	X.37:g.91134209C>T						PCDH11X_ENST00000361724.1_Silent_p.S990S|PCDH11X_ENST00000361655.2_Silent_p.S990S|PCDH11X_ENST00000298274.8_Silent_p.S990S|PCDH11X_ENST00000373088.1_Silent_p.S990S|PCDH11X_ENST00000406881.1_Silent_p.S990S|PCDH11X_ENST00000395337.2_Silent_p.S990S|PCDH11X_ENST00000373097.1_Silent_p.S990S|PCDH11X_ENST00000504220.1_Silent_p.S990S	p.S990S	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN			2	3815	+			990					A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Silent	SNP	ENST00000373094.1	37	c.2970C>T	CCDS14461.1																																																																																				0.478	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		40	65	0	0	0	1	0	40	65				
GOLGA6B	55889	broad.mit.edu	37	15	72954808	72954808	+	Missense_Mutation	SNP	C	C	T	rs376212280	byFrequency	TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr15:72954808C>T	ENST00000421285.3	+	11	1063	c.1063C>T	c.(1063-1065)Cgg>Tgg	p.R355W	RN7SL853P_ENST00000477951.2_RNA	NM_018652.4	NP_061122.4	A6NDN3	GOG6B_HUMAN	golgin A6 family, member B	355						Golgi apparatus (GO:0005794)				NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						GCAGAGAGTGCGGGAGCAGGA	0.567													C|||	3	0.000599042	0.0008	0.0	5008	,	,		17063	0.0		0.001	False		,,,				2504	0.001					ENST00000421285.3																			0				NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						c.(1063-1065)Cgg>Tgg		golgin A6 family, member B		C	TRP/ARG	1,4125		0,1,2062	68.0	69.0	69.0		1063		0.1	15		69	0,7742		0,0,3871	no	missense	GOLGA6B	NM_018652.4	101	0,1,5933	TT,TC,CC		0.0,0.0242,0.0084	benign	355/694	72954808	1,11867	2063	3871	5934	SO:0001583	missense	55889							g.chr15:72954808C>T		CCDS10245.2	15q24.1	2011-10-25	2010-02-12		ENSG00000215186	ENSG00000215186			32205	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 6B"""				Standard	XM_006720604		Approved		uc010uks.1	A6NDN3	OTTHUMG00000133511	ENST00000421285.3:c.1063C>T	15.37:g.72954808C>T	ENSP00000408132:p.Arg355Trp						p.R355W	NM_018652.4	NP_061122.4	A6NDN3	GOG6B_HUMAN			11	1063	+			355					A8MYY7	Missense_Mutation	SNP	ENST00000421285.3	37	c.1063C>T	CCDS10245.2	.	.	.	.	.	.	.	.	.	.	.	3.987	-0.005230	0.07773	2.42E-4	0.0	ENSG00000215186	ENST00000421285	T	0.06218	3.33	.	.	.	.	.	.	.	.	T	0.05456	0.0144	L	0.38175	1.15	0.19300	N	0.999975	B	0.02656	0.0	B	0.01281	0.0	T	0.37056	-0.9722	7	0.87932	D	0	.	.	.	.	.	355	A6NDN3	GOG6B_HUMAN	W	355	ENSP00000408132:R355W	ENSP00000408132:R355W	R	+	1	2	GOLGA6B	70741862	0.499000	0.26083	0.138000	0.22173	0.055000	0.15305	1.574000	0.36482	0.088000	0.17205	0.089000	0.15464	CGG		0.567	GOLGA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257474.4	NM_018652		5	405	0	0	0	1	0	5	405				
COQ6	51004	broad.mit.edu	37	14	74426211	74426211	+	Missense_Mutation	SNP	G	G	A	rs201706177		TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr14:74426211G>A	ENST00000334571.2	+	8	917	c.877G>A	c.(877-879)Gtt>Att	p.V293I	COQ6_ENST00000238709.4_Missense_Mutation_p.V218I|COQ6_ENST00000394026.4_Missense_Mutation_p.V268I|ENTPD5_ENST00000557325.1_3'UTR|COQ6_ENST00000554920.1_Intron	NM_182476.2	NP_872282.1	Q9Y2Z9	COQ6_HUMAN	coenzyme Q6 monooxygenase	293					small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	cell projection (GO:0042995)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(234;0.00337)		TGTGGATGCCGTTAACTCTGC	0.448																																						ENST00000334571.2																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(877-879)Gtt>Att		coenzyme Q6 monooxygenase							233.0	207.0	216.0					14																	74426211		2203	4300	6503	SO:0001583	missense	51004				ubiquinone biosynthetic process	mitochondrion	flavin adenine dinucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen	g.chr14:74426211G>A	AF132944	CCDS9823.1, CCDS9824.1, CCDS9824.2	14q24.1	2013-05-01	2013-05-01		ENSG00000119723	ENSG00000119723			20233	protein-coding gene	gene with protein product		614647	"""coenzyme Q6 homolog (yeast)"", ""coenzyme Q6 homolog, monooxygenase (yeast)"", ""coenzyme Q6 homolog, monooxygenase (S. cerevisiae)"""			21540551	Standard	NM_182476		Approved	CGI-10	uc001xph.3	Q9Y2Z9	OTTHUMG00000171260	ENST00000334571.2:c.877G>A	14.37:g.74426211G>A	ENSP00000333946:p.Val293Ile					COQ6_ENST00000238709.4_Missense_Mutation_p.V218I|ENTPD5_ENST00000557325.1_3'UTR|COQ6_ENST00000554920.1_Intron|COQ6_ENST00000394026.4_Missense_Mutation_p.V268I|COQ6_ENST00000557780.1_3'UTR	p.V293I	NM_182476.2	NP_872282.1	Q9Y2Z9	COQ6_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00337)	8	917	+			293					B7Z3K8|Q53GG6|Q86U30|Q96CA1|Q96CK2	Missense_Mutation	SNP	ENST00000334571.2	37	c.877G>A	CCDS9823.1	.	.	.	.	.	.	.	.	.	.	G	3.737	-0.054426	0.07362	.	.	ENSG00000119723	ENST00000394026;ENST00000555376;ENST00000238709;ENST00000334571;ENST00000554320	T;T;T;T	0.51071	0.72;0.72;0.72;0.72	5.55	0.629	0.17687	Monooxygenase, FAD-binding (1);	0.256048	0.45361	N	0.000364	T	0.27241	0.0668	N	0.16602	0.42	0.80722	D	1	B;B;B;B;B	0.18166	0.003;0.01;0.007;0.002;0.026	B;B;B;B;B	0.27500	0.009;0.03;0.013;0.012;0.08	T	0.05903	-1.0857	10	0.13108	T	0.6	-7.3643	9.1574	0.37000	0.602:0.0:0.398:0.0	.	268;293;218;218;218	B7Z3K8;Q9Y2Z9;G3V3A1;G3XA86;Q86U30	.;COQ6_HUMAN;.;.;.	I	268;218;218;293;218	ENSP00000377594:V268I;ENSP00000238709:V218I;ENSP00000333946:V293I;ENSP00000451123:V218I	ENSP00000238709:V218I	V	+	1	0	COQ6	73495964	0.893000	0.30496	0.997000	0.53966	0.981000	0.71138	1.041000	0.30291	-0.040000	0.13580	-0.302000	0.09304	GTT		0.448	COQ6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412616.1			4	170	0	0	0	1	0	4	170				
LAMC3	10319	broad.mit.edu	37	9	133917079	133917079	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr9:133917079C>T	ENST00000361069.4	+	7	1472	c.1339C>T	c.(1339-1341)Cgc>Tgc	p.R447C	LAMC3_ENST00000480883.1_3'UTR	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	447	Laminin EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00460}.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)	p.R447C(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CCGCAGTGGGCGCTGCCCCTG	0.547																																						ENST00000361069.4																			2	Substitution - Missense(2)	p.R447C(2)	large_intestine(1)|endometrium(1)	endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69						c.(1339-1341)Cgc>Tgc		laminin, gamma 3							51.0	46.0	48.0					9																	133917079		2203	4300	6503	SO:0001583	missense	10319				cell adhesion	basement membrane|membrane	structural molecule activity	g.chr9:133917079C>T	AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"""Laminins"""	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.1339C>T	9.37:g.133917079C>T	ENSP00000354360:p.Arg447Cys					LAMC3_ENST00000480883.1_3'UTR	p.R447C	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)	7	1472	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	447			Laminin EGF-like 4.		B1APX9|B1APY0|Q59H72	Missense_Mutation	SNP	ENST00000361069.4	37	c.1339C>T	CCDS6938.1	.	.	.	.	.	.	.	.	.	.	C	18.76	3.692866	0.68271	.	.	ENSG00000050555	ENST00000361069;ENST00000355048;ENST00000320021	T	0.62364	0.03	4.97	3.01	0.34805	EGF-like, laminin (3);	0.558844	0.19673	N	0.108699	T	0.79370	0.4434	M	0.89095	3.005	0.09310	N	0.999995	D	0.76494	0.999	D	0.64877	0.93	T	0.71590	-0.4547	10	0.54805	T	0.06	.	12.3069	0.54908	0.3029:0.6971:0.0:0.0	.	447	Q9Y6N6	LAMC3_HUMAN	C	447	ENSP00000354360:R447C	ENSP00000325873:R447C	R	+	1	0	LAMC3	132906900	0.008000	0.16893	0.529000	0.27951	0.961000	0.63080	1.954000	0.40362	0.430000	0.26230	0.462000	0.41574	CGC		0.547	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059		12	30	0	0	0	1	0	12	30				
FAM64A	54478	broad.mit.edu	37	17	6350972	6350972	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr17:6350972C>T	ENST00000250056.8	+	3	567	c.484C>T	c.(484-486)Cgc>Tgc	p.R162C	FAM64A_ENST00000571373.1_Missense_Mutation_p.R162C|FAM64A_ENST00000572595.2_Missense_Mutation_p.R193C|FAM64A_ENST00000576056.1_Missense_Mutation_p.R162C|FAM64A_ENST00000572447.1_Missense_Mutation_p.R162C|FAM64A_ENST00000570337.2_Missense_Mutation_p.R162C	NM_001195228.1	NP_001182157.1	Q9BSJ6	FA64A_HUMAN	family with sequence similarity 64, member A	162					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				COAD - Colon adenocarcinoma(228;0.141)		GGAGCATCACCGCCTCTCTGT	0.657																																						ENST00000572447.1																			0				breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7						c.(484-486)Cgc>Tgc		family with sequence similarity 64, member A							26.0	28.0	27.0					17																	6350972		2203	4300	6503	SO:0001583	missense	54478					nucleolus	protein binding	g.chr17:6350972C>T		CCDS32541.1, CCDS56016.1	17p13.2	2013-10-11			ENSG00000129195	ENSG00000129195			25483	protein-coding gene	gene with protein product	"""CALM interacting protein expressed in thymus and spleen"""					19383357, 16491119	Standard	NM_019013		Approved	FLJ10156, FLJ10491, CATS	uc002gcw.2	Q9BSJ6	OTTHUMG00000177832	ENST00000250056.8:c.484C>T	17.37:g.6350972C>T	ENSP00000250056:p.Arg162Cys					FAM64A_ENST00000576056.1_Missense_Mutation_p.R162C|FAM64A_ENST00000571373.1_Missense_Mutation_p.R162C|FAM64A_ENST00000250056.8_Missense_Mutation_p.R162C|FAM64A_ENST00000572595.2_Missense_Mutation_p.R193C|FAM64A_ENST00000570337.2_Missense_Mutation_p.R162C	p.R162C	NM_019013.2	NP_061886.2	Q9BSJ6	FA64A_HUMAN		COAD - Colon adenocarcinoma(228;0.141)	3	593	+			162					Q96CT4|Q9NVV1|Q9NWB5	Missense_Mutation	SNP	ENST00000250056.8	37	c.484C>T	CCDS56016.1	.	.	.	.	.	.	.	.	.	.	C	10.98	1.505237	0.26949	.	.	ENSG00000129195	ENST00000250056;ENST00000308855	T	0.58358	0.34	4.6	-4.48	0.03515	.	0.921112	0.09194	N	0.835584	T	0.37210	0.0995	L	0.51422	1.61	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.10450	0.005;0.001	T	0.35251	-0.9796	10	0.42905	T	0.14	-0.7354	1.7841	0.03038	0.4518:0.2618:0.122:0.1644	.	162;162	Q9BSJ6;Q9BSJ6-2	FA64A_HUMAN;.	C	162	ENSP00000250056:R162C	ENSP00000250056:R162C	R	+	1	0	FAM64A	6291696	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.748000	0.04818	-0.656000	0.05380	-0.244000	0.11960	CGC		0.657	FAM64A-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000439156.1	NM_019013		3	24	0	0	0	1	0	3	24				
RELT	84957	broad.mit.edu	37	11	73105607	73105607	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr11:73105607G>A	ENST00000064780.2	+	9	1135	c.874G>A	c.(874-876)Ggc>Agc	p.G292S	RP11-809N8.2_ENST00000544674.1_RNA|RELT_ENST00000393580.2_Missense_Mutation_p.G292S	NM_152222.1	NP_689408.1	Q969Z4	TR19L_HUMAN	RELT tumor necrosis factor receptor	292						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						CTCGCTCTCTGGCCCCTGCTG	0.682																																						ENST00000064780.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						c.(874-876)Ggc>Agc		RELT tumor necrosis factor receptor							44.0	46.0	45.0					11																	73105607		2199	4293	6492	SO:0001583	missense	84957					cytoplasm|integral to membrane|plasma membrane	binding|receptor activity	g.chr11:73105607G>A	AF319553	CCDS8222.1	11q13.2	2013-05-22	2007-06-14	2007-06-14		ENSG00000054967		"""Tumor necrosis factor receptor superfamily"""	13764	protein-coding gene	gene with protein product		611211	"""tumor necrosis factor receptor superfamily, member 19-like"""	TNFRSF19L		11313261, 16547002, 16950202, 16389068	Standard	NM_032871		Approved	FLJ14993	uc001otv.3	Q969Z4		ENST00000064780.2:c.874G>A	11.37:g.73105607G>A	ENSP00000064780:p.Gly292Ser					RELT_ENST00000393580.2_Missense_Mutation_p.G292S	p.G292S	NM_152222.1	NP_689408.1	Q969Z4	TR19L_HUMAN			9	1135	+			292					Q86V34|Q96JU1|Q9BUX7	Missense_Mutation	SNP	ENST00000064780.2	37	c.874G>A	CCDS8222.1	.	.	.	.	.	.	.	.	.	.	G	34	5.320889	0.95682	.	.	ENSG00000054967	ENST00000064780;ENST00000393580;ENST00000438119	T;T	0.75938	-0.98;-0.98	5.04	4.13	0.48395	.	0.000000	0.85682	D	0.000000	T	0.70675	0.3251	L	0.50333	1.59	0.50039	D	0.999849	D	0.58620	0.983	P	0.45449	0.481	T	0.73007	-0.4118	10	0.52906	T	0.07	-18.5278	12.2121	0.54386	0.0828:0.0:0.9172:0.0	.	292	Q969Z4	TR19L_HUMAN	S	292;292;160	ENSP00000064780:G292S;ENSP00000377207:G292S	ENSP00000064780:G292S	G	+	1	0	RELT	72783255	1.000000	0.71417	0.992000	0.48379	0.983000	0.72400	7.608000	0.82898	1.357000	0.45904	0.655000	0.94253	GGC		0.682	RELT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397380.2	NM_032871		13	177	0	0	0	1	0	13	177				
ABCG8	64241	broad.mit.edu	37	2	44078907	44078907	+	Silent	SNP	C	C	T			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr2:44078907C>T	ENST00000272286.2	+	4	597	c.507C>T	c.(505-507)ttC>ttT	p.F169F		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	169	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|phospholipid transport (GO:0015914)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein heterodimerization activity (GO:0046982)|sterol transporter activity (GO:0015248)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	CCTTGGCCTTCATTGCCCAGA	0.617																																						ENST00000272286.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45						c.(505-507)ttC>ttT		ATP-binding cassette, sub-family G (WHITE), member 8							117.0	118.0	118.0					2																	44078907		2203	4300	6503	SO:0001819	synonymous_variant	64241				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	g.chr2:44078907C>T	AF320294	CCDS1815.1	2p21	2012-03-14	2008-07-31		ENSG00000143921	ENSG00000143921		"""ATP binding cassette transporters / subfamily G"""	13887	protein-coding gene	gene with protein product	"""gallbladder disease 4"", ""sterolin 2"""	605460	"""ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)"""			11099417, 17626266	Standard	NM_022437		Approved	GBD4	uc002rtq.3	Q9H221	OTTHUMG00000128756	ENST00000272286.2:c.507C>T	2.37:g.44078907C>T							p.F169F	NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN			4	597	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	169			ABC transporter.		Q53QN8	Silent	SNP	ENST00000272286.2	37	c.507C>T	CCDS1815.1																																																																																				0.617	ABCG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250671.1	NM_022437		5	186	0	0	0	1	0	5	186				
GORASP1	64689	broad.mit.edu	37	3	39142261	39142261	+	Silent	SNP	G	G	A			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr3:39142261G>A	ENST00000319283.3	-	5	1364	c.543C>T	c.(541-543)aaC>aaT	p.N181N	GORASP1_ENST00000476334.1_5'Flank|GORASP1_ENST00000479927.1_Silent_p.N86N|GORASP1_ENST00000422110.2_Intron	NM_031899.2	NP_114105.1	Q9BQQ3	GORS1_HUMAN	golgi reassembly stacking protein 1, 65kDa	181					Golgi organization (GO:0007030)|mitotic cell cycle (GO:0000278)|negative regulation of dendrite morphogenesis (GO:0050774)|protein transport (GO:0015031)	Golgi membrane (GO:0000139)				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(1)|ovary(3)|urinary_tract(1)	14				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		CCCAGGCTGCGTTGGGAGTTA	0.582											OREG0015486	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000319283.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(1)|ovary(3)|urinary_tract(1)	14						c.(541-543)aaC>aaT		golgi reassembly stacking protein 1, 65kDa							107.0	106.0	106.0					3																	39142261		2203	4300	6503	SO:0001819	synonymous_variant	64689				mitotic prophase|protein transport	cytosol|Golgi apparatus|membrane		g.chr3:39142261G>A	AJ409349	CCDS2681.1, CCDS63596.1, CCDS63597.1	3p22-p21.33	2008-04-23	2002-08-29	2002-05-24	ENSG00000114745	ENSG00000114745			16769	protein-coding gene	gene with protein product		606867	"""golgi phosphoprotein 5"""	GOLPH5			Standard	NM_001278789		Approved	GRASP65, P65, FLJ23443	uc003ciw.1	Q9BQQ3	OTTHUMG00000131292	ENST00000319283.3:c.543C>T	3.37:g.39142261G>A			OREG0015486	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	883	GORASP1_ENST00000479927.1_Silent_p.N86N|GORASP1_ENST00000422110.2_Intron	p.N181N	NM_031899.2	NP_114105.1	Q9BQQ3	GORS1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)	5	1364	-			181					B3KWC8|Q3SYG7|Q8N272|Q96H42	Silent	SNP	ENST00000319283.3	37	c.543C>T	CCDS2681.1																																																																																				0.582	GORASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254060.1			4	179	0	0	0	1	0	4	179				
OR5K1	26339	broad.mit.edu	37	3	98188962	98188962	+	Missense_Mutation	SNP	T	T	C	rs369149810		TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr3:98188962T>C	ENST00000332650.5	+	1	639	c.542T>C	c.(541-543)aTt>aCt	p.I181T		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	181						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TACTGTGATATTCTTCCCTTG	0.388																																						ENST00000332650.5																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(541-543)aTt>aCt		olfactory receptor, family 5, subfamily K, member 1		T	THR/ILE	0,4406		0,0,2203	250.0	252.0	251.0		542	5.3	0.7	3		251	1,8597	1.2+/-3.3	0,1,4298	no	missense	OR5K1	NM_001004736.2	89	0,1,6501	CC,CT,TT		0.0116,0.0,0.0077	benign	181/309	98188962	1,13003	2203	4299	6502	SO:0001583	missense	26339				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98188962T>C	X64984	CCDS43115.1	3q11.2	2013-09-23			ENSG00000232382	ENSG00000232382		"""GPCR / Class A : Olfactory receptors"""	8349	protein-coding gene	gene with protein product						1370859	Standard	NM_001004736		Approved	HTPCRX10, HSHTPCRX10	uc003dsm.3	Q8NHB7	OTTHUMG00000160048	ENST00000332650.5:c.542T>C	3.37:g.98188962T>C	ENSP00000373193:p.Ile181Thr						p.I181T	NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN			1	639	+			181					B9EGY5|Q6IF46	Missense_Mutation	SNP	ENST00000332650.5	37	c.542T>C	CCDS43115.1	.	.	.	.	.	.	.	.	.	.	T	10.85	1.466753	0.26335	0.0	1.16E-4	ENSG00000232382	ENST00000332650	T	0.38560	1.13	5.33	5.33	0.75918	GPCR, rhodopsin-like superfamily (1);	0.162273	0.28989	N	0.013482	T	0.47078	0.1426	L	0.52759	1.655	0.09310	N	1	P	0.45768	0.866	P	0.49421	0.61	T	0.42050	-0.9474	10	0.41790	T	0.15	-13.1074	13.2379	0.59979	0.0:0.0:0.0:1.0	.	181	Q8NHB7	OR5K1_HUMAN	T	181	ENSP00000373193:I181T	ENSP00000373193:I181T	I	+	2	0	OR5K1	99671652	0.012000	0.17670	0.684000	0.30055	0.390000	0.30446	2.157000	0.42320	2.009000	0.58944	0.460000	0.39030	ATT		0.388	OR5K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359019.1			52	168	0	0	0	1	0	52	168				
DOK3	79930	broad.mit.edu	37	5	176935363	176935363	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr5:176935363C>T	ENST00000357198.4	-	3	419	c.415G>A	c.(415-417)Gct>Act	p.A139T	DOK3_ENST00000501403.2_Missense_Mutation_p.A83T|DOK3_ENST00000312943.6_Missense_Mutation_p.A83T|DOK3_ENST00000377112.4_Intron	NM_024872.2	NP_079148.2	Q7L591	DOK3_HUMAN	docking protein 3	139	PH.				Ras protein signal transduction (GO:0007265)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|lung(7)	13	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			TCGCCGTCAGCCGGCAGCACG	0.711																																						ENST00000312943.6																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|lung(7)	13						c.(247-249)Gct>Act		docking protein 3							17.0	20.0	19.0					5																	176935363		2191	4290	6481	SO:0001583	missense	79930					cytoplasm|plasma membrane	insulin receptor binding	g.chr5:176935363C>T	AK026223	CCDS4426.1, CCDS47349.1, CCDS47350.1	5q35	2008-02-05			ENSG00000146094	ENSG00000146094			24583	protein-coding gene	gene with protein product		611435				10733577, 12595900	Standard	NM_024872		Approved	FLJ22570	uc003mhk.3	Q7L591	OTTHUMG00000130850	ENST00000357198.4:c.415G>A	5.37:g.176935363C>T	ENSP00000349727:p.Ala139Thr					DOK3_ENST00000357198.4_Missense_Mutation_p.A139T|DOK3_ENST00000377112.4_Intron|DOK3_ENST00000501403.2_Missense_Mutation_p.A83T	p.A83T	NM_001144875.1	NP_001138347.1	Q7L591	DOK3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)		3	407	-	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	139			PH.		E9PAT0|H7BXS0|Q8N864|Q9BQB3|Q9H666	Missense_Mutation	SNP	ENST00000357198.4	37	c.247G>A	CCDS4426.1	.	.	.	.	.	.	.	.	.	.	C	19.03	3.747348	0.69533	.	.	ENSG00000146094	ENST00000312943;ENST00000357198;ENST00000501403;ENST00000510380;ENST00000506493;ENST00000502885;ENST00000510898	T;T;T;T	0.49720	0.77;2.06;1.35;0.83	4.7	3.83	0.44106	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.085697	0.44483	D	0.000444	T	0.56366	0.1980	L	0.60455	1.87	0.27973	N	0.936329	D;P	0.76494	0.999;0.873	D;B	0.64144	0.922;0.225	T	0.49485	-0.8935	10	0.17369	T	0.5	-44.5503	9.9214	0.41466	0.0:0.9025:0.0:0.0975	.	139;83	Q7L591;Q7L591-3	DOK3_HUMAN;.	T	83;139;83;83;83;83;83	ENSP00000325174:A83T;ENSP00000349727:A139T;ENSP00000421688:A83T;ENSP00000422395:A83T	ENSP00000325174:A83T	A	-	1	0	DOK3	176867969	0.934000	0.31675	0.064000	0.19789	0.519000	0.34347	2.896000	0.48656	0.976000	0.38417	0.491000	0.48974	GCT		0.711	DOK3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253420.4	NM_024872		3	29	0	0	0	1	0	3	29				
FAM179A	165186	broad.mit.edu	37	2	29268247	29268247	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr2:29268247C>T	ENST00000379558.4	+	19	3044	c.2693C>T	c.(2692-2694)gCg>gTg	p.A898V	FAM179A_ENST00000403861.2_Missense_Mutation_p.A843V|FAM179A_ENST00000465300.1_3'UTR	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	898										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						AGTGGCCGTGCGGTGCTGGAT	0.607																																						ENST00000379558.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(2692-2694)gCg>gTg		family with sequence similarity 179, member A							97.0	95.0	96.0					2																	29268247		2203	4300	6503	SO:0001583	missense	165186						binding	g.chr2:29268247C>T	AK125239, AK125744	CCDS1769.2	2p23.2	2008-10-30			ENSG00000189350	ENSG00000189350			33715	protein-coding gene	gene with protein product						16344560	Standard	NM_199280		Approved	FLJ43249, LOC165186	uc010ezl.3	Q6ZUX3	OTTHUMG00000128432	ENST00000379558.4:c.2693C>T	2.37:g.29268247C>T	ENSP00000368876:p.Ala898Val					FAM179A_ENST00000403861.2_Missense_Mutation_p.A843V|FAM179A_ENST00000465300.1_3'UTR	p.A898V	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN			19	3044	+			898					Q6ZUF5	Missense_Mutation	SNP	ENST00000379558.4	37	c.2693C>T	CCDS1769.2	.	.	.	.	.	.	.	.	.	.	C	19.49	3.837059	0.71373	.	.	ENSG00000189350	ENST00000379558;ENST00000403861	T;T	0.68624	-0.34;-0.34	5.33	5.33	0.75918	Armadillo-type fold (1);	0.090386	0.48286	D	0.000192	T	0.78123	0.4234	L	0.49350	1.555	0.38888	D	0.957042	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.996;0.998	T	0.75419	-0.3324	10	0.32370	T	0.25	.	18.805	0.92034	0.0:1.0:0.0:0.0	.	843;898;196	F8W8E4;Q6ZUX3;Q6ZUX3-3	.;F179A_HUMAN;.	V	898;843	ENSP00000368876:A898V;ENSP00000384699:A843V	ENSP00000368876:A898V	A	+	2	0	FAM179A	29121751	0.994000	0.37717	0.227000	0.23927	0.456000	0.32438	5.065000	0.64344	2.771000	0.95319	0.561000	0.74099	GCG		0.607	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317848.4	NM_199280		4	110	0	0	0	1	0	4	110				
C6orf118	168090	broad.mit.edu	37	6	165715617	165715617	+	Missense_Mutation	SNP	T	T	C			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr6:165715617T>C	ENST00000230301.8	-	2	214	c.194A>G	c.(193-195)aAc>aGc	p.N65S	C6orf118_ENST00000543069.1_5'UTR	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	65										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		CTTGTTGGGGTTCAGGTGTCC	0.592																																						ENST00000230301.8																			0				breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40						c.(193-195)aAc>aGc		chromosome 6 open reading frame 118							110.0	122.0	118.0					6																	165715617		2203	4300	6503	SO:0001583	missense	168090							g.chr6:165715617T>C		CCDS5288.1	6q27	2012-02-06			ENSG00000112539	ENSG00000112539			21233	protein-coding gene	gene with protein product							Standard	NM_144980		Approved	MGC23884, bA85G2.1	uc003qum.4	Q5T5N4	OTTHUMG00000015984	ENST00000230301.8:c.194A>G	6.37:g.165715617T>C	ENSP00000230301:p.Asn65Ser					C6orf118_ENST00000543069.1_5'UTR	p.N65S	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)	2	214	-		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)	65					Q8TC11	Missense_Mutation	SNP	ENST00000230301.8	37	c.194A>G	CCDS5288.1	.	.	.	.	.	.	.	.	.	.	T	16.26	3.073866	0.55646	.	.	ENSG00000112539	ENST00000230301	T	0.39787	1.06	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.53498	0.1800	M	0.68317	2.08	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.60214	-0.7307	10	0.87932	D	0	.	12.826	0.57721	0.0:0.0:0.0:1.0	.	65	Q5T5N4	CF118_HUMAN	S	65	ENSP00000230301:N65S	ENSP00000230301:N65S	N	-	2	0	C6orf118	165635607	1.000000	0.71417	0.985000	0.45067	0.209000	0.24338	4.089000	0.57685	2.012000	0.59069	0.533000	0.62120	AAC		0.592	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043026.1	NM_144980		27	122	0	0	0	1	0	27	122				
C12orf60	144608	broad.mit.edu	37	12	14976229	14976229	+	Silent	SNP	G	G	A	rs575360384		TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr12:14976229G>A	ENST00000330828.2	+	2	564	c.360G>A	c.(358-360)acG>acA	p.T120T	C12orf60_ENST00000527783.1_Intron	NM_175874.3	NP_787070.2	Q5U649	CL060_HUMAN	chromosome 12 open reading frame 60	120										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	9						GTGCCCATACGCCAGTCATCA	0.428													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19778	0.0		0.0	False		,,,				2504	0.0					ENST00000330828.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	9						c.(358-360)acG>acA		chromosome 12 open reading frame 60							157.0	154.0	155.0					12																	14976229		2203	4300	6503	SO:0001819	synonymous_variant	144608							g.chr12:14976229G>A	BC038836	CCDS8667.1	12p12.3	2012-08-16			ENSG00000182993	ENSG00000182993			28726	protein-coding gene	gene with protein product						12477932	Standard	NM_175874		Approved	MGC47869	uc001rcj.4	Q5U649	OTTHUMG00000167473	ENST00000330828.2:c.360G>A	12.37:g.14976229G>A						C12orf60_ENST00000527783.1_Intron	p.T120T	NM_175874.3	NP_787070.2	Q5U649	CL060_HUMAN			2	564	+			120					A8K1M7|Q5XKK8|Q8IXY2	Silent	SNP	ENST00000330828.2	37	c.360G>A	CCDS8667.1																																																																																				0.428	C12orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394735.1	NM_175874		26	104	0	0	0	1	0	26	104				
POTEH	23784	broad.mit.edu	37	22	16287770	16287770	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr22:16287770C>T	ENST00000343518.6	-	1	167	c.116G>A	c.(115-117)gGc>gAc	p.G39D		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	39										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						GTTGCTCTTGCCGCTCCCCCT	0.592																																						ENST00000343518.6																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						c.(115-117)gGc>gAc		POTE ankyrin domain family, member H							88.0	108.0	101.0					22																	16287770		1970	3758	5728	SO:0001583	missense	23784							g.chr22:16287770C>T	AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	133	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 7"""	608913	"""actin, beta-like 1"", ""ANKRD26-like family C, member 3"""	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.116G>A	22.37:g.16287770C>T	ENSP00000340610:p.Gly39Asp						p.G39D	NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN			1	167	-			39					A2CEK4|A6NCI1|A9Z1W0	Missense_Mutation	SNP	ENST00000343518.6	37	c.116G>A	CCDS46658.1	.	.	.	.	.	.	.	.	.	.	.	10.31	1.313845	0.23908	.	.	ENSG00000198062	ENST00000359587;ENST00000343518;ENST00000355872	T	0.57752	0.38	.	.	.	.	.	.	.	.	T	0.42131	0.1189	L	0.29908	0.895	0.09310	N	1	D	0.61697	0.99	P	0.52823	0.71	T	0.32134	-0.9918	7	0.07644	T	0.81	.	.	.	.	.	39	Q6S545	POTEH_HUMAN	D	39	ENSP00000340610:G39D	ENSP00000340610:G39D	G	-	2	0	POTEH	14667770	0.002000	0.14202	0.022000	0.16811	0.022000	0.10575	0.904000	0.28491	0.073000	0.16731	0.074000	0.15403	GGC		0.592	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276918.4	NM_001136213		6	682	0	0	0	1	0	6	682				
XIRP1	165904	broad.mit.edu	37	3	39225527	39225527	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr3:39225527C>T	ENST00000340369.3	-	2	5638	c.5410G>A	c.(5410-5412)Ggg>Agg	p.G1804R	XIRP1_ENST00000421646.1_Missense_Mutation_p.G487R|XIRP1_ENST00000396251.1_3'UTR	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1804	Interaction with FLNC.				cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GCGTGGAGCCCGAGGTGGGAG	0.612																																						ENST00000340369.3																			0				breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71						c.(5410-5412)Ggg>Agg		xin actin-binding repeat containing 1							100.0	107.0	105.0					3																	39225527		2203	4300	6503	SO:0001583	missense	165904						actin binding	g.chr3:39225527C>T	AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"""cardiomyopathy associated 1"""	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.5410G>A	3.37:g.39225527C>T	ENSP00000343140:p.Gly1804Arg					XIRP1_ENST00000421646.1_Missense_Mutation_p.G487R|XIRP1_ENST00000396251.1_3'UTR	p.G1804R	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	2	5638	-			1804			Interaction with FLNC.		A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Missense_Mutation	SNP	ENST00000340369.3	37	c.5410G>A	CCDS2683.1	.	.	.	.	.	.	.	.	.	.	C	0.171	-1.071830	0.01918	.	.	ENSG00000168334	ENST00000340369;ENST00000421646	T;T	0.18338	3.96;2.22	4.28	2.44	0.29823	.	9.716670	0.02982	U	0.145793	T	0.14184	0.0343	N	0.25647	0.755	0.09310	N	1	B	0.22604	0.072	B	0.11329	0.006	T	0.24835	-1.0149	10	0.37606	T	0.19	.	7.5472	0.27775	0.1878:0.6307:0.1814:0.0	.	1804	Q702N8	XIRP1_HUMAN	R	1804;487	ENSP00000343140:G1804R;ENSP00000391645:G487R	ENSP00000343140:G1804R	G	-	1	0	XIRP1	39200531	0.003000	0.15002	0.002000	0.10522	0.002000	0.02628	1.431000	0.34925	0.536000	0.28733	-0.150000	0.13652	GGG		0.612	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522		24	78	0	0	0	1	0	24	78				
NEB	4703	broad.mit.edu	37	2	152500621	152500621	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr2:152500621C>T	ENST00000172853.10	-	57	7814	c.7667G>A	c.(7666-7668)cGc>cAc	p.R2556H	NEB_ENST00000427231.2_Missense_Mutation_p.R2556H|NEB_ENST00000397345.3_Missense_Mutation_p.R2556H|NEB_ENST00000604864.1_Missense_Mutation_p.R2556H|NEB_ENST00000409198.1_Missense_Mutation_p.R2556H|NEB_ENST00000603639.1_Missense_Mutation_p.R2556H			P20929	NEBU_HUMAN	nebulin	2556					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GAGCTGCTTGCGAAAGCCTTC	0.453																																						ENST00000397345.3																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(7666-7668)cGc>cAc		nebulin							225.0	214.0	217.0					2																	152500621		1889	4115	6004	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152500621C>T	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.7667G>A	2.37:g.152500621C>T	ENSP00000172853:p.Arg2556His					NEB_ENST00000409198.1_Missense_Mutation_p.R2556H|NEB_ENST00000172853.10_Missense_Mutation_p.R2556H|NEB_ENST00000427231.2_Missense_Mutation_p.R2556H|NEB_ENST00000603639.1_Missense_Mutation_p.R2556H|NEB_ENST00000604864.1_Missense_Mutation_p.R2556H	p.R2556H	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	57	7869	-			2556					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.7667G>A		.	.	.	.	.	.	.	.	.	.	C	15.37	2.814264	0.50527	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.47177	0.85;0.85;0.85;0.85	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.74749	0.3757	M	0.87097	2.86	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78112	-0.2331	10	0.62326	D	0.03	.	19.656	0.95842	0.0:1.0:0.0:0.0	.	2556	P20929	NEBU_HUMAN	H	2556	ENSP00000386259:R2556H;ENSP00000380505:R2556H;ENSP00000416578:R2556H;ENSP00000172853:R2556H	ENSP00000172853:R2556H	R	-	2	0	NEB	152208867	0.978000	0.34361	0.988000	0.46212	0.044000	0.14063	2.604000	0.46274	2.647000	0.89833	0.557000	0.71058	CGC		0.453	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		66	261	0	0	0	1	0	66	261				
FEZF2	55079	broad.mit.edu	37	3	62356914	62356914	+	Silent	SNP	G	G	A	rs557123618		TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr3:62356914G>A	ENST00000283268.3	-	4	1392	c.1098C>T	c.(1096-1098)tgC>tgT	p.C366C	FEZF2_ENST00000475839.1_Silent_p.C366C|FEZF2_ENST00000486811.1_Silent_p.C366C|PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000490916.1_RNA	NM_018008.3	NP_060478.3	Q8TBJ5	FEZF2_HUMAN	FEZ family zinc finger 2	366					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cerebral cortex GABAergic interneuron migration (GO:0021853)|dendrite development (GO:0016358)|dentate gyrus development (GO:0021542)|forebrain anterior/posterior pattern specification (GO:0021797)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|lung(8)|skin(1)	20		Lung SC(41;0.0262)		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)		AGCCTTTGCCGCAAAATTCGC	0.572													G|||	0	0.0	0.0	0.0	5008	,	,		18292	0.0		0.0	False		,,,				2504	0.0				NSCLC(170;1772 2053 12525 15604 23984)	ENST00000283268.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|lung(8)|skin(1)	20						c.(1096-1098)tgC>tgT		FEZ family zinc finger 2							113.0	109.0	111.0					3																	62356914		2203	4300	6503	SO:0001819	synonymous_variant	55079				transcription, DNA-dependent	nucleus	zinc ion binding	g.chr3:62356914G>A	AF064845	CCDS2897.1	3p21.1	2013-01-08	2006-08-15	2006-08-15	ENSG00000153266	ENSG00000153266		"""Zinc fingers, C2H2-type"""	13506	protein-coding gene	gene with protein product		607414	"""zinc finger protein 312"""	ZNF312			Standard	NM_018008		Approved	FLJ10142, FKSG36, TOF, FEZL, Zfp312	uc003dli.2	Q8TBJ5	OTTHUMG00000158705	ENST00000283268.3:c.1098C>T	3.37:g.62356914G>A						FEZF2_ENST00000486811.1_Silent_p.C366C|FEZF2_ENST00000475839.1_Silent_p.C366C	p.C366C	NM_018008.3	NP_060478.3	Q8TBJ5	FEZF2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)	4	1392	-		Lung SC(41;0.0262)	366					A8K349|Q9BZ91|Q9NWB9	Silent	SNP	ENST00000283268.3	37	c.1098C>T	CCDS2897.1																																																																																				0.572	FEZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351813.1	NM_018008		4	88	0	0	0	1	0	4	88				
WWC3	55841	broad.mit.edu	37	X	10094266	10094266	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chrX:10094266G>A	ENST00000380861.4	+	15	2417	c.2026G>A	c.(2026-2028)Gtg>Atg	p.V676M	WWC3_ENST00000454666.1_Missense_Mutation_p.V676M	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	676	C2.				negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						CAGAATCCCCGTGCATTCCAG	0.562																																						ENST00000380861.4																			0				NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						c.(2026-2028)Gtg>Atg		WWC family member 3							149.0	130.0	136.0					X																	10094266		2203	4300	6503	SO:0001583	missense	55841							g.chrX:10094266G>A	AK091936	CCDS14136.1	Xp22.32	2008-02-05			ENSG00000047644	ENSG00000047644		"""WW, C2 and coiled-coil domain containing"""	29237	protein-coding gene	gene with protein product						10574462	Standard	NM_015691		Approved	KIAA1280, BM042	uc004csx.4	Q9ULE0	OTTHUMG00000021123	ENST00000380861.4:c.2026G>A	X.37:g.10094266G>A	ENSP00000370242:p.Val676Met					WWC3_ENST00000454666.1_Missense_Mutation_p.V676M	p.V676M	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN			15	2417	+			676			C2.		A8KA96|Q659C1|Q9BTQ1	Missense_Mutation	SNP	ENST00000380861.4	37	c.2026G>A	CCDS14136.1	.	.	.	.	.	.	.	.	.	.	G	2.381	-0.342017	0.05243	.	.	ENSG00000047644	ENST00000380861;ENST00000454666;ENST00000543412	T;T	0.51071	0.72;0.72	4.99	4.12	0.48240	C2 calcium/lipid-binding domain, CaLB (1);	0.180087	0.48767	D	0.000175	T	0.34571	0.0902	L	0.39245	1.2	0.33569	D	0.598327	B	0.34200	0.441	B	0.31686	0.134	T	0.45396	-0.9264	9	.	.	.	-22.8392	8.8738	0.35332	0.2491:0.0:0.7509:0.0	.	676	Q9ULE0	WWC3_HUMAN	M	676;676;171	ENSP00000370242:V676M;ENSP00000399584:V676M	.	V	+	1	0	WWC3	10054266	1.000000	0.71417	0.839000	0.33178	0.033000	0.12548	4.019000	0.57181	0.882000	0.36016	0.600000	0.82982	GTG		0.562	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055725.1	NM_015691		4	165	0	0	0	1	0	4	165				
KIAA1211	57482	broad.mit.edu	37	4	57180310	57180310	+	Silent	SNP	G	G	A			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr4:57180310G>A	ENST00000504228.1	+	6	747	c.642G>A	c.(640-642)ccG>ccA	p.P214P	KIAA1211_ENST00000541073.1_Silent_p.P207P|KIAA1211_ENST00000264229.6_Silent_p.P214P			Q6ZU35	K1211_HUMAN	KIAA1211	214	Glu-rich.									endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					AACCCAATCCGCTGGATTCCG	0.602																																						ENST00000504228.1																			0				endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65						c.(640-642)ccG>ccA		KIAA1211							41.0	51.0	48.0					4																	57180310		2036	4177	6213	SO:0001819	synonymous_variant	57482							g.chr4:57180310G>A	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.642G>A	4.37:g.57180310G>A						KIAA1211_ENST00000264229.6_Silent_p.P214P|KIAA1211_ENST00000541073.1_Silent_p.P207P	p.P214P			Q6ZU35	K1211_HUMAN			6	747	+	Glioma(25;0.08)|all_neural(26;0.101)		214			Glu-rich.		Q9NTE2|Q9NTP8|Q9ULK9	Silent	SNP	ENST00000504228.1	37	c.642G>A	CCDS43230.1																																																																																				0.602	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		12	20	0	0	0	1	0	12	20				
SLC9A6	10479	broad.mit.edu	37	X	135095108	135095108	+	Splice_Site	SNP	G	G	A			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chrX:135095108G>A	ENST00000370698.3	+	8	981	c.946G>A	c.(946-948)Gtg>Atg	p.V316M	SLC9A6_ENST00000370701.1_Splice_Site_p.V296M|SLC9A6_ENST00000370695.4_Splice_Site_p.V348M	NM_006359.2	NP_006350.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	316					axon extension (GO:0048675)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|dendrite extension (GO:0097484)|dendritic spine development (GO:0060996)|ion transport (GO:0006811)|neuron projection morphogenesis (GO:0048812)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon terminus (GO:0043679)|axonal spine (GO:0044308)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|synapse (GO:0045202)	sodium:proton antiporter activity (GO:0015385)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					ACAGTCTTACGTGACAAAGTT	0.423																																						ENST00000370695.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33						c.e8-1		solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6							222.0	191.0	201.0					X																	135095108		2203	4300	6503	SO:0001630	splice_region_variant	10479				regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity	g.chrX:135095108G>A	AF030409	CCDS14654.1, CCDS44003.1, CCDS55504.1	Xq26.3	2013-05-22	2012-03-22		ENSG00000198689	ENSG00000198689		"""Solute carriers"""	11079	protein-coding gene	gene with protein product		300231	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 6"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 6"""			9507001	Standard	NM_001042537		Approved	NHE6, KIAA0267	uc004ezk.3	Q92581	OTTHUMG00000022498	ENST00000370698.3:c.946-1G>A	X.37:g.135095108G>A						SLC9A6_ENST00000370698.3_Splice_Site_p.V316_splice|SLC9A6_ENST00000370701.1_Splice_Site_p.V296_splice	p.V348_splice	NM_001042537.1	NP_001036002.1	Q92581	SL9A6_HUMAN			8	1077	+	Acute lymphoblastic leukemia(192;0.000127)		316					A6NIQ9|A8K160|B4DU30|B7ZAE0|Q3ZCW7|Q5JPP8|Q5JPP9|Q86VS0	Splice_Site	SNP	ENST00000370698.3	37	c.1041_splice	CCDS14654.1	.	.	.	.	.	.	.	.	.	.	G	15.69	2.906667	0.52333	.	.	ENSG00000198689	ENST00000370701;ENST00000370698;ENST00000370695	T;T;T	0.16597	2.33;2.33;2.33	5.81	5.81	0.92471	Cation/H+ exchanger (1);	0.112560	0.64402	D	0.000010	T	0.16171	0.0389	L	0.37800	1.135	0.80722	D	1	P;B	0.45396	0.857;0.231	B;B	0.39217	0.294;0.227	T	0.02081	-1.1217	9	.	.	.	.	17.9197	0.88962	0.0:0.0:1.0:0.0	.	348;316	Q92581-2;Q92581	.;SL9A6_HUMAN	M	296;316;348	ENSP00000359735:V296M;ENSP00000359732:V316M;ENSP00000359729:V348M	.	V	+	1	0	SLC9A6	134922774	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.476000	0.97823	2.452000	0.82932	0.594000	0.82650	GTG		0.423	SLC9A6-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058450.1	NM_006359	Missense_Mutation	4	109	0	0	0	1	0	4	109				
STK24	8428	broad.mit.edu	37	13	99171637	99171637	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr13:99171637G>A	ENST00000376547.3	-	2	314	c.169C>T	c.(169-171)Cgg>Tgg	p.R57W	STK24_ENST00000481288.1_5'UTR|STK24_ENST00000539966.1_Missense_Mutation_p.R45W|STK24_ENST00000397517.2_Missense_Mutation_p.R45W	NM_003576.3	NP_003567.2	Q9Y6E0	STK24_HUMAN	serine/threonine kinase 24	57	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|execution phase of apoptosis (GO:0097194)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of cell migration (GO:0030336)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of axon regeneration (GO:0048679)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TTCTGAGTCCGATTGTCAATG	0.428																																						ENST00000397517.2																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	17						c.(133-135)Cgg>Tgg		serine/threonine kinase 24							246.0	236.0	239.0					13																	99171637		2203	4300	6503	SO:0001583	missense	8428				cellular component disassembly involved in apoptosis|signal transduction	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr13:99171637G>A	AF024636	CCDS9488.1, CCDS32001.1, CCDS66573.1	13q31.2-q32.3	2010-06-25	2010-06-25		ENSG00000102572	ENSG00000102572			11403	protein-coding gene	gene with protein product	"""STE20-like kinase 3"", ""sterile 20-like kinase 3"""	604984	"""serine/threonine kinase 24 (Ste20, yeast homolog)"""			9353338, 10644707	Standard	NM_003576		Approved	MST-3, MST3, MST3B, STK3, STE20	uc001vnn.1	Q9Y6E0	OTTHUMG00000017250	ENST00000376547.3:c.169C>T	13.37:g.99171637G>A	ENSP00000365730:p.Arg57Trp					STK24_ENST00000481288.1_5'UTR|STK24_ENST00000539966.1_Missense_Mutation_p.R45W|STK24_ENST00000376547.3_Missense_Mutation_p.R57W	p.R45W	NM_001032296.2	NP_001027467.2	Q9Y6E0	STK24_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.233)		2	209	-	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		57			Protein kinase.		O14840|Q5JV92	Missense_Mutation	SNP	ENST00000376547.3	37	c.133C>T	CCDS9488.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.507367	0.64410	.	.	ENSG00000102572	ENST00000397517;ENST00000376547;ENST00000539966;ENST00000376533;ENST00000543110	T;T;T	0.66280	-0.2;-0.2;-0.2	5.54	5.54	0.83059	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.50627	U	0.000111	T	0.56046	0.1959	L	0.46567	1.45	0.80722	D	1	B;P;P	0.34800	0.25;0.469;0.469	B;B;B	0.32624	0.054;0.115;0.149	T	0.61352	-0.7080	10	0.87932	D	0	.	14.3351	0.66584	0.0:0.0:0.8518:0.1482	.	45;45;57	B4DR80;Q5U0E6;Q9Y6E0	.;.;STK24_HUMAN	W	45;57;45;33;45	ENSP00000380651:R45W;ENSP00000365730:R57W;ENSP00000442539:R45W	ENSP00000365716:R33W	R	-	1	2	STK24	97969638	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.570000	0.67398	2.606000	0.88127	0.655000	0.94253	CGG		0.428	STK24-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045549.2	NM_003576		5	245	0	0	0	1	0	5	245				
ALPK3	57538	broad.mit.edu	37	15	85383935	85383935	+	Silent	SNP	T	T	G			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr15:85383935T>G	ENST00000258888.5	+	5	2198	c.2031T>G	c.(2029-2031)acT>acG	p.T677T		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	677					heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CCCAGCCGACTAGGCCTTTCA	0.607																																						ENST00000258888.5																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(2029-2031)acT>acG		alpha-kinase 3							43.0	42.0	42.0					15																	85383935		2203	4299	6502	SO:0001819	synonymous_variant	57538				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr15:85383935T>G	AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17574	protein-coding gene	gene with protein product	"""myocyte induction differentiation originator"", ""muscle alpha-kinase"""					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.2031T>G	15.37:g.85383935T>G							p.T677T	NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		5	2198	+			677					Q9P2L6	Silent	SNP	ENST00000258888.5	37	c.2031T>G	CCDS10333.1																																																																																				0.607	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778		13	74	0	0	0	1	0	13	74				
UBR5	51366	broad.mit.edu	37	8	103359213	103359213	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr8:103359213C>T	ENST00000520539.1	-	6	1100	c.494G>A	c.(493-495)cGg>cAg	p.R165Q	UBR5_ENST00000521922.1_Missense_Mutation_p.R165Q|UBR5_ENST00000220959.4_Missense_Mutation_p.R165Q	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	165					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CCCTCGATCCCGTCCTGTCCG	0.557																																					Ovarian(131;96 1741 5634 7352 27489)	ENST00000520539.1																			0				NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124						c.(493-495)cGg>cAg		ubiquitin protein ligase E3 component n-recognin 5							104.0	112.0	109.0					8																	103359213		2203	4300	6503	SO:0001583	missense	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103359213C>T	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.494G>A	8.37:g.103359213C>T	ENSP00000429084:p.Arg165Gln					UBR5_ENST00000220959.4_Missense_Mutation_p.R165Q|UBR5_ENST00000521922.1_Missense_Mutation_p.R165Q	p.R165Q	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		6	1100	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		165					B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	c.494G>A	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	C	34	5.404456	0.96051	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.43294	0.95;0.95;0.95	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.52125	0.1715	L	0.29908	0.895	0.58432	D	0.999997	D;D	0.64830	0.994;0.994	P;P	0.61201	0.885;0.885	T	0.51084	-0.8750	10	0.51188	T	0.08	.	19.4714	0.94965	0.0:1.0:0.0:0.0	.	165;165	E7EMW7;O95071	.;UBR5_HUMAN	Q	165	ENSP00000429084:R165Q;ENSP00000220959:R165Q;ENSP00000427819:R165Q	ENSP00000220959:R165Q	R	-	2	0	UBR5	103428389	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	7.776000	0.85560	2.686000	0.91538	0.655000	0.94253	CGG		0.557	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		4	183	0	0	0	1	0	4	183				
RPS6KA1	6195	broad.mit.edu	37	1	26887335	26887335	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr1:26887335C>T	ENST00000374168.2	+	15	1488	c.1334C>T	c.(1333-1335)gCt>gTt	p.A445V	RPS6KA1_ENST00000531382.1_Missense_Mutation_p.A454V|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.A434V|RPS6KA1_ENST00000526792.1_Missense_Mutation_p.A353V|RPS6KA1_ENST00000530003.1_Missense_Mutation_p.A429V|RPS6KA1_ENST00000374162.2_Missense_Mutation_p.A353V	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	445	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of hepatic stellate cell activation (GO:2000491)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		ATGGAGTATGCTGTCAAGGTG	0.592																																						ENST00000374168.2																			0				lung(1)	1						c.(1333-1335)gCt>gTt		ribosomal protein S6 kinase, 90kDa, polypeptide 1							98.0	92.0	94.0					1																	26887335		2203	4300	6503	SO:0001583	missense	6195				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr1:26887335C>T	BC014966	CCDS284.1, CCDS30649.1	1p	2011-04-05	2002-08-29		ENSG00000117676	ENSG00000117676			10430	protein-coding gene	gene with protein product		601684	"""ribosomal protein S6 kinase, 90kD, polypeptide 1"""			8141249	Standard	NM_001006665		Approved	RSK, RSK1, HU-1	uc001bms.1	Q15418	OTTHUMG00000004003	ENST00000374168.2:c.1334C>T	1.37:g.26887335C>T	ENSP00000363283:p.Ala445Val					RPS6KA1_ENST00000530003.1_Missense_Mutation_p.A429V|RPS6KA1_ENST00000526792.1_Missense_Mutation_p.A353V|RPS6KA1_ENST00000374162.2_Missense_Mutation_p.A353V|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.A434V|RPS6KA1_ENST00000531382.1_Missense_Mutation_p.A454V	p.A445V	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)	15	1488	+		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	445			Protein kinase 2.		A6NGG4|A8K9K7|B2RDY8|B7Z5J0|Q5SVM5|Q5SVM8|Q5SVM9|Q96C05|Q9BQK2	Missense_Mutation	SNP	ENST00000374168.2	37	c.1334C>T	CCDS284.1	.	.	.	.	.	.	.	.	.	.	C	36	5.621535	0.96660	.	.	ENSG00000117676	ENST00000374168;ENST00000374166;ENST00000526792;ENST00000374162;ENST00000530003;ENST00000531382	T;T;T;T;T;T	0.70282	-0.47;-0.47;-0.47;-0.47;-0.47;-0.47	5.46	5.46	0.80206	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.85066	0.5612	M	0.79475	2.455	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.78314	0.936;0.974;0.991	D	0.86563	0.1842	10	0.87932	D	0	.	19.2983	0.94132	0.0:1.0:0.0:0.0	.	429;454;445	B7Z2K7;Q15418-2;Q15418	.;.;KS6A1_HUMAN	V	445;434;353;353;429;454	ENSP00000363283:A445V;ENSP00000363281:A434V;ENSP00000431651:A353V;ENSP00000363277:A353V;ENSP00000432281:A429V;ENSP00000435412:A454V	ENSP00000363277:A353V	A	+	2	0	RPS6KA1	26759922	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	7.805000	0.86005	2.567000	0.86603	0.462000	0.41574	GCT		0.592	RPS6KA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011431.1	NM_002953		4	94	0	0	0	1	0	4	94				
MMP20	9313	broad.mit.edu	37	11	102449821	102449821	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr11:102449821C>T	ENST00000260228.2	-	9	1312	c.1300G>A	c.(1300-1302)Gaa>Aaa	p.E434K		NM_004771.3	NP_004762.2	Q9NPA2	MMP25_HUMAN	matrix metallopeptidase 20	456					hard palate development (GO:0060022)|inflammatory response (GO:0006954)|proteolysis (GO:0006508)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)	Marimastat(DB00786)	GAAAATTCTTCTTCAGTATTC	0.299																																						ENST00000260228.2																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(1300-1302)Gaa>Aaa		matrix metallopeptidase 20							191.0	180.0	183.0					11																	102449821		2202	4297	6499	SO:0001583	missense	9313				proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding	g.chr11:102449821C>T	Y12779	CCDS8318.1	11q22.3	2008-05-22	2008-05-22			ENSG00000137674			7167	protein-coding gene	gene with protein product	"""enamelysin"""	604629	"""matrix metalloproteinase 20 (enamelysin)"""			9398237	Standard	NM_004771		Approved		uc001phc.3	O60882		ENST00000260228.2:c.1300G>A	11.37:g.102449821C>T	ENSP00000260228:p.Glu434Lys						p.E434K	NM_004771.3	NP_004762.2	O60882	MMP20_HUMAN	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)	9	1312	-	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	434			Hemopexin-like 3.		D3DUA8|Q9H3Q0	Missense_Mutation	SNP	ENST00000260228.2	37	c.1300G>A	CCDS8318.1	.	.	.	.	.	.	.	.	.	.	C	16.41	3.116540	0.56505	.	.	ENSG00000137674	ENST00000260228	T	0.02472	4.28	4.95	4.95	0.65309	Hemopexin/matrixin (2);	0.508009	0.23102	N	0.051911	T	0.03651	0.0104	L	0.37466	1.105	0.43047	D	0.994644	B	0.29115	0.233	B	0.22152	0.038	T	0.53725	-0.8398	10	0.39692	T	0.17	.	17.105	0.86660	0.0:1.0:0.0:0.0	.	434	O60882	MMP20_HUMAN	K	434	ENSP00000260228:E434K	ENSP00000260228:E434K	E	-	1	0	MMP20	101955031	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.384000	0.52478	2.555000	0.86185	0.655000	0.94253	GAA		0.299	MMP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398012.1			40	54	0	0	0	1	0	40	54				
TRPM3	80036	broad.mit.edu	37	9	73151480	73151480	+	Missense_Mutation	SNP	G	G	T			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr9:73151480G>T	ENST00000377110.3	-	25	4756	c.4513C>A	c.(4513-4515)Cta>Ata	p.L1505I	TRPM3_ENST00000377106.1_Missense_Mutation_p.L1377I|TRPM3_ENST00000396285.1_Missense_Mutation_p.L1364I|TRPM3_ENST00000396292.4_Missense_Mutation_p.L1377I|TRPM3_ENST00000408909.2_Missense_Mutation_p.L1364I|TRPM3_ENST00000396280.5_Missense_Mutation_p.L1354I|TRPM3_ENST00000358082.3_Missense_Mutation_p.L1367I|TRPM3_ENST00000360823.2_Missense_Mutation_p.L1367I|TRPM3_ENST00000357533.2_Missense_Mutation_p.L1509I|TRPM3_ENST00000377105.1_Missense_Mutation_p.L1364I|TRPM3_ENST00000423814.3_Missense_Mutation_p.L1532I|TRPM3_ENST00000377111.2_Intron			Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1530					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GTGGTGGCTAGGTAGCGGCTA	0.498																																						ENST00000377110.2																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						c.(4513-4515)Cta>Ata		transient receptor potential cation channel, subfamily M, member 3							97.0	107.0	104.0					9																	73151480		2203	4300	6503	SO:0001583	missense	80036					integral to membrane	calcium channel activity	g.chr9:73151480G>T	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377110.3:c.4513C>A	9.37:g.73151480G>T	ENSP00000366314:p.Leu1505Ile					TRPM3_ENST00000423814.3_Missense_Mutation_p.L1532I|TRPM3_ENST00000358082.3_Missense_Mutation_p.L1367I|TRPM3_ENST00000377105.1_Missense_Mutation_p.L1364I|TRPM3_ENST00000408909.2_Missense_Mutation_p.L1364I|TRPM3_ENST00000396280.5_Missense_Mutation_p.L1354I|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000396285.1_Missense_Mutation_p.L1364I|TRPM3_ENST00000360823.2_Missense_Mutation_p.L1367I|TRPM3_ENST00000396292.4_Missense_Mutation_p.L1377I|TRPM3_ENST00000377106.1_Missense_Mutation_p.L1377I|TRPM3_ENST00000357533.2_Missense_Mutation_p.L1509I	p.L1505I	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN			25	4756	-			1530					A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000377110.3	37	c.4513C>A	CCDS43835.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.91|16.91	3.253042|3.253042	0.59212|0.59212	.|.	.|.	ENSG00000083067|ENSG00000083067	ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814|ENST00000396280	T;T;T;T;T;T;T;T;T;T|.	0.63913|.	0.05;-0.05;-0.05;-0.06;0.05;-0.06;-0.07;-0.05;-0.05;0.04|.	6.02|6.02	4.18|4.18	0.49190|0.49190	.|.	0.230802|.	0.37530|.	N|.	0.002045|.	T|T	0.50735|0.50735	0.1633|0.1633	L|L	0.29908|0.29908	0.895|0.895	0.43073|0.43073	D|D	0.994713|0.994713	B;P;D;B;B;B;B|.	0.58268|.	0.04;0.936;0.982;0.023;0.04;0.112;0.023|.	B;P;P;B;B;B;B|.	0.49999|.	0.043;0.472;0.628;0.019;0.043;0.042;0.019|.	T|T	0.42327|0.42327	-0.9458|-0.9458	10|5	0.25106|.	T|.	0.35|.	-5.7671|-5.7671	11.3714|11.3714	0.49702|0.49702	0.0649:0.0:0.8078:0.1272|0.0649:0.0:0.8078:0.1272	.|.	1505;1495;1509;1367;1364;1477;1364|.	Q9HCF6-2;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3|.	.;.;.;.;.;.;.|.	I|H	1505;1377;1367;1364;1509;1364;1364;1377;1367;1532|1353	ENSP00000366314:L1505I;ENSP00000366310:L1377I;ENSP00000354066:L1367I;ENSP00000366309:L1364I;ENSP00000350140:L1509I;ENSP00000386127:L1364I;ENSP00000379581:L1364I;ENSP00000379587:L1377I;ENSP00000350791:L1367I;ENSP00000389542:L1532I|.	ENSP00000350140:L1509I|.	L|P	-|-	1|2	2|0	TRPM3|TRPM3	72341300|72341300	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.997000|0.997000	0.91878|0.91878	6.171000|6.171000	0.71926|0.71926	0.875000|0.875000	0.35847|0.35847	0.655000|0.655000	0.94253|0.94253	CTA|CCT		0.498	TRPM3-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214158.3	NM_206945		9	84	1	0	0.000673444	1	0.000681969	9	84				
DNAH8	1769	broad.mit.edu	37	6	38840417	38840417	+	Missense_Mutation	SNP	G	G	A	rs549318995	byFrequency	TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr6:38840417G>A	ENST00000359357.3	+	48	6699	c.6445G>A	c.(6445-6447)Gga>Aga	p.G2149R	DNAH8_ENST00000449981.2_Missense_Mutation_p.G2366R|DNAH8_ENST00000441566.1_Missense_Mutation_p.G2113R			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	2149	AAA 2. {ECO:0000250}.				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						AACAGAATGCGGAAGGCCTCA	0.483													G|||	2	0.000399361	0.0	0.0	5008	,	,		16872	0.001		0.0	False		,,,				2504	0.001					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.(6445-6447)Gga>Aga		dynein, axonemal, heavy chain 8							114.0	107.0	109.0					6																	38840417		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38840417G>A	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.6445G>A	6.37:g.38840417G>A	ENSP00000352312:p.Gly2149Arg					DNAH8_ENST00000449981.2_Missense_Mutation_p.G2366R|DNAH8_ENST00000441566.1_Missense_Mutation_p.G2113R	p.G2149R							48	6699	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.6445G>A		.	.	.	.	.	.	.	.	.	.	G	20.5	4.004549	0.74932	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.53423	0.62;0.62;0.62	5.62	5.62	0.85841	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.000000	0.85682	D	0.000000	T	0.62974	0.2472	M	0.64080	1.96	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.61128	-0.7125	10	0.52906	T	0.07	.	20.0114	0.97452	0.0:0.0:1.0:0.0	.	2149	Q96JB1	DYH8_HUMAN	R	2354;2354;2149;2113	ENSP00000333363:G2354R;ENSP00000352312:G2149R;ENSP00000402294:G2113R	ENSP00000333363:G2354R	G	+	1	0	DNAH8	38948395	1.000000	0.71417	0.570000	0.28473	0.179000	0.23085	9.813000	0.99286	2.795000	0.96236	0.655000	0.94253	GGA		0.483	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		15	70	0	0	0	1	0	15	70				
PLCG1	5335	broad.mit.edu	37	20	39788394	39788394	+	Silent	SNP	G	G	T			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr20:39788394G>T	ENST00000373271.1	+	2	771	c.366G>T	c.(364-366)ctG>ctT	p.L122L	PLCG1_ENST00000373272.2_Silent_p.L122L|PLCG1_ENST00000244007.3_Silent_p.L122L	NM_182811.1	NP_877963.1	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	122	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phospholipid catabolic process (GO:0009395)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell projection (GO:0042995)|cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				CGCTGAGCCTGCAAGGTGGGA	0.542																																						ENST00000373272.2																			0				breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46						c.(364-366)ctG>ctT		phospholipase C, gamma 1							90.0	94.0	93.0					20																	39788394		2203	4300	6503	SO:0001819	synonymous_variant	5335				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity	g.chr20:39788394G>T	M34667	CCDS13313.1, CCDS13314.1	20q12-q13.1	2013-02-14	2004-01-29		ENSG00000124181	ENSG00000124181	3.1.4.11	"""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"", ""SH2 domain containing"""	9065	protein-coding gene	gene with protein product		172420	"""phospholipase C, gamma 1 (formerly subtype 148)"""	PLC1		2167438, 3254788	Standard	NM_182811		Approved	PLC148, PLC-II, PLCgamma1, NCKAP3	uc002xjo.1	P19174	OTTHUMG00000033082	ENST00000373271.1:c.366G>T	20.37:g.39788394G>T						PLCG1_ENST00000244007.3_Silent_p.L122L|PLCG1_ENST00000373271.1_Silent_p.L122L	p.L122L	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN			2	771	+		Myeloproliferative disorder(115;0.00878)	122			PH 1.		B7ZLY7|B9EGH4|E1P5W4|Q2V575	Silent	SNP	ENST00000373271.1	37	c.366G>T	CCDS13314.1																																																																																				0.542	PLCG1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080514.3	NM_182811		16	103	1	0	2.23348e-06	1	2.3205e-06	16	103				
PCDHGB7	56099	broad.mit.edu	37	5	140798045	140798045	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr5:140798045G>A	ENST00000398594.2	+	1	619	c.619G>A	c.(619-621)Gct>Act	p.A207T	PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000518882.1_5'Flank|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA11_ENST00000398587.2_5'Flank|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	207	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACGCAGAGCGCTCACCACTT	0.498																																						ENST00000398594.2																			0				central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56						c.(619-621)Gct>Act									67.0	68.0	68.0					5																	140798045		1935	4145	6080	SO:0001583	missense	56099							g.chr5:140798045G>A	AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122		"""Cadherins / Protocadherins : Clustered"""	8714	other	protocadherin	"""cadherin ME6"""	606304				10380929	Standard	NM_032101		Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.619G>A	5.37:g.140798045G>A	ENSP00000381594:p.Ala207Thr					PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron	p.A207T	NM_018927.3	NP_061750.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	619	+								Q9UN63	Missense_Mutation	SNP	ENST00000398594.2	37	c.619G>A	CCDS47293.1	.	.	.	.	.	.	.	.	.	.	g	2.682	-0.275225	0.05679	.	.	ENSG00000254122	ENST00000398594	T	0.50277	0.75	5.84	-11.7	0.00046	Cadherin (4);Cadherin-like (1);	0.951724	0.08480	N	0.939701	T	0.14614	0.0353	N	0.02202	-0.64	0.09310	N	1	B;B	0.13145	0.007;0.003	B;B	0.13407	0.009;0.005	T	0.18023	-1.0350	10	0.15499	T	0.54	.	8.4868	0.33076	0.381:0.0:0.3708:0.2482	.	207;207	Q9Y5F8;Q9Y5F8-2	PCDGJ_HUMAN;.	T	207	ENSP00000381594:A207T	ENSP00000381594:A207T	A	+	1	0	PCDHGB7	140778229	0.000000	0.05858	0.000000	0.03702	0.815000	0.46073	-8.505000	0.00020	-2.723000	0.00388	-1.105000	0.02106	GCT		0.498	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376973.1	NM_018927		39	52	0	0	0	1	0	39	52				
RTP5	285093	broad.mit.edu	37	2	242815330	242815330	+	Silent	SNP	C	C	T			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr2:242815330C>T	ENST00000343216.3	+	2	1651	c.1623C>T	c.(1621-1623)taC>taT	p.Y541Y		NM_173821.2	NP_776182.2																					CCGAGCCCTACGAGGACTTCT	0.667																																						ENST00000343216.3																			0											c.(1621-1623)taC>taT		CXXC finger protein 11							89.0	101.0	97.0					2																	242815330		2090	4186	6276	SO:0001819	synonymous_variant	285093					integral to membrane		g.chr2:242815330C>T																												ENST00000343216.3:c.1623C>T	2.37:g.242815330C>T							p.Y541Y	NM_173821.2	NP_776182.2	Q14D33	CB085_HUMAN			2	1651	+			541						Silent	SNP	ENST00000343216.3	37	c.1623C>T	CCDS42843.1																																																																																				0.667	CXXC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322310.1			49	218	0	0	0	1	0	49	218				
SMN2	6607	broad.mit.edu	37	5	69372363	69372363	+	Missense_Mutation	SNP	C	C	A			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr5:69372363C>A	ENST00000380743.4	+	8	924	c.850C>A	c.(850-852)Caa>Aaa	p.Q284K	RN7SL9P_ENST00000584813.1_RNA|SMN2_ENST00000380742.4_Missense_Mutation_p.Q252K|SMN2_ENST00000511812.1_Missense_Mutation_p.Q217K|SMN2_ENST00000380741.4_Intron	NM_017411.3	NP_059107.1	Q16637	SMN_HUMAN	survival of motor neuron 2, centromeric	284	Required for interaction with SYNCRIP.				cell death (GO:0008219)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|nervous system development (GO:0007399)|positive regulation of protein import into nucleus (GO:0042307)|RNA metabolic process (GO:0016070)|spliceosomal complex assembly (GO:0000245)|spliceosomal snRNP assembly (GO:0000387)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Gemini of coiled bodies (GO:0097504)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	identical protein binding (GO:0042802)|RNA binding (GO:0003723)						Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		TAGACAAAATCAAAAAGAAGG	0.284																																						ENST00000380743.4																			0											c.(850-852)Caa>Aaa		survival of motor neuron 2, centromeric							35.0	43.0	40.0					5																	69372363		1813	3979	5792	SO:0001583	missense	6607				cell death|ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	Cajal body|cytosol|spliceosomal complex	protein binding|RNA binding	g.chr5:69372363C>A		CCDS4007.1, CCDS4008.1	5q13.2	2014-09-17			ENSG00000205571	ENSG00000205571		"""Tudor domain containing"""	11118	protein-coding gene	gene with protein product	"""tudor domain containing 16B"""	601627				7813012	Standard	NM_022875		Approved	BCD541, SMNC, GEMIN1, TDRD16B	uc003jyd.3	Q16637	OTTHUMG00000099389	ENST00000380743.4:c.850C>A	5.37:g.69372363C>A	ENSP00000370119:p.Gln284Lys					SMN2_ENST00000511812.1_Missense_Mutation_p.Q217K|SMN2_ENST00000380742.4_Missense_Mutation_p.Q252K|SMN2_ENST00000380741.4_Intron	p.Q284K	NM_017411.3	NP_059107.1	Q16637	SMN_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)	8	924	+		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)	284			Required for interaction with SYNCRIP.		A8K0V4|Q13119|Q549U5|Q96J51	Missense_Mutation	SNP	ENST00000380743.4	37	c.850C>A	CCDS4007.1	.	.	.	.	.	.	.	.	.	.	C	7.396	0.631821	0.14322	.	.	ENSG00000205571	ENST00000380743;ENST00000511812;ENST00000380742	D;D;D	0.98437	-4.81;-4.81;-4.93	2.5	0.406	0.16366	Survival motor neuron (1);	0.073443	0.56097	U	0.000023	D	0.94169	0.8129	L	0.43701	1.375	0.80722	D	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	D	0.85146	0.0983	10	0.28530	T	0.3	-7.5705	2.8688	0.05610	0.2842:0.5455:0.0:0.1702	.	217;252;284	B4DP61;Q16637-2;Q16637	.;.;SMN_HUMAN	K	284;217;252	ENSP00000370119:Q284K;ENSP00000424282:Q217K;ENSP00000370118:Q252K	ENSP00000370118:Q252K	Q	+	1	0	SMN2	69408119	1.000000	0.71417	0.943000	0.38184	0.418000	0.31294	1.632000	0.37102	-0.064000	0.13043	0.184000	0.17185	CAA		0.284	SMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216845.2	NM_017411		3	11	1	0	0.0215528	1	0.0215528	3	11				
PPL	5493	broad.mit.edu	37	16	4934643	4934643	+	Missense_Mutation	SNP	C	C	T	rs150735451	byFrequency	TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr16:4934643C>T	ENST00000345988.2	-	22	4102	c.4013G>A	c.(4012-4014)cGg>cAg	p.R1338Q	PPL_ENST00000590782.2_Missense_Mutation_p.R1336Q	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1338					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CTCCTCTTTCCGGGCGATCTG	0.607													C|||	4	0.000798722	0.0023	0.0	5008	,	,		17442	0.001		0.0	False		,,,				2504	0.0					ENST00000345988.2																			0				breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						c.(4012-4014)cGg>cAg		periplakin		C	GLN/ARG	1,4393	2.1+/-5.4	0,1,2196	164.0	175.0	171.0		4013	-2.8	0.0	16	dbSNP_134	171	0,8600		0,0,4300	yes	missense	PPL	NM_002705.4	43	0,1,6496	TT,TC,CC		0.0,0.0228,0.0077	benign	1338/1757	4934643	1,12993	2197	4300	6497	SO:0001583	missense	5493				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr16:4934643C>T	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.4013G>A	16.37:g.4934643C>T	ENSP00000340510:p.Arg1338Gln					PPL_ENST00000590782.2_Missense_Mutation_p.R1336Q	p.R1338Q	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN			22	4102	-			1338					O60314|O60454|Q14C98	Missense_Mutation	SNP	ENST00000345988.2	37	c.4013G>A	CCDS10526.1	4	0.0018315018315018315	3	0.006097560975609756	0	0.0	1	0.0017482517482517483	0	0.0	C	0.335	-0.953756	0.02285	2.28E-4	0.0	ENSG00000118898	ENST00000345988	T	0.39997	1.05	5.45	-2.76	0.05896	.	0.665045	0.14424	N	0.320473	T	0.17450	0.0419	L	0.34521	1.04	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26087	-1.0113	10	0.13853	T	0.58	.	7.9041	0.29752	0.1118:0.4677:0.0:0.4205	.	1338	O60437	PEPL_HUMAN	Q	1338	ENSP00000340510:R1338Q	ENSP00000340510:R1338Q	R	-	2	0	PPL	4874644	0.002000	0.14202	0.009000	0.14445	0.009000	0.06853	0.495000	0.22483	-0.479000	0.06813	-2.048000	0.00412	CGG		0.607	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		5	451	0	0	0	1	0	5	451				
CBFA2T3	863	broad.mit.edu	37	16	88945792	88945792	+	Silent	SNP	C	C	A	rs141897085	byFrequency	TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr16:88945792C>A	ENST00000268679.4	-	11	1944	c.1548G>T	c.(1546-1548)gcG>gcT	p.A516A	CBFA2T3_ENST00000360302.2_Silent_p.A430A|CBFA2T3_ENST00000327483.5_Silent_p.A430A|RP11-830F9.5_ENST00000562405.1_RNA|RP11-830F9.5_ENST00000569249.1_RNA|CBFA2T3_ENST00000448839.1_Silent_p.A440A|RP11-830F9.5_ENST00000562574.1_RNA|CBFA2T3_ENST00000436887.2_Silent_p.A478A	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3	516					cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		TGAGCTCGTGCGCTTTGCGCT	0.662			T	RUNX1	AML																																	ENST00000268679.4				Dom	yes		16	16q24	863	T	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (MTG-16)"""			L	RUNX1		AML		0				endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(1546-1548)gcG>gcT		core-binding factor, runt domain, alpha subunit 2; translocated to, 3							83.0	71.0	75.0					16																	88945792		2198	4299	6497	SO:0001819	synonymous_variant	863				cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:88945792C>A	AF052213	CCDS10972.1, CCDS10973.1	16q24	2013-10-16			ENSG00000129993	ENSG00000129993		"""Zinc fingers, MYND-type"", ""A-kinase anchor proteins"""	1537	protein-coding gene	gene with protein product	"""myeloid translocation gene 8 and 16b"""	603870				9790752, 20150326	Standard	NM_005187		Approved	MTGR2, ZMYND4, MTG16	uc002fmm.2	O75081	OTTHUMG00000137864	ENST00000268679.4:c.1548G>T	16.37:g.88945792C>A						CBFA2T3_ENST00000327483.5_Silent_p.A430A|CBFA2T3_ENST00000436887.2_Silent_p.A478A|CBFA2T3_ENST00000448839.1_Silent_p.A440A|CBFA2T3_ENST00000360302.2_Silent_p.A430A	p.A516A	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0275)	11	1944	-			516					D3DX78|O60615|O60616|O60617|O75082|O75107|O75108|Q0P5Z6|Q6P5W6	Silent	SNP	ENST00000268679.4	37	c.1548G>T	CCDS10972.1																																																																																				0.662	CBFA2T3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269545.2	NM_005187		6	69	1	0	5.9392e-07	1	6.25179e-07	6	69				
OR5K1	26339	broad.mit.edu	37	3	98188932	98188932	+	Missense_Mutation	SNP	C	C	T	rs199803370		TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr3:98188932C>T	ENST00000332650.5	+	1	609	c.512C>T	c.(511-513)tCg>tTg	p.S171L		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	171						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S171L(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTCTGTGGATCGAATCACATC	0.398																																						ENST00000332650.5																			1	Substitution - Missense(1)	p.S171L(1)	large_intestine(1)	breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(511-513)tCg>tTg		olfactory receptor, family 5, subfamily K, member 1		C	LEU/SER	1,4405	2.1+/-5.4	0,1,2202	249.0	250.0	250.0		512	4.5	0.0	3		250	1,8599	1.2+/-3.3	0,1,4299	no	missense	OR5K1	NM_001004736.2	145	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	possibly-damaging	171/309	98188932	2,13004	2203	4300	6503	SO:0001583	missense	26339				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98188932C>T	X64984	CCDS43115.1	3q11.2	2013-09-23			ENSG00000232382	ENSG00000232382		"""GPCR / Class A : Olfactory receptors"""	8349	protein-coding gene	gene with protein product						1370859	Standard	NM_001004736		Approved	HTPCRX10, HSHTPCRX10	uc003dsm.3	Q8NHB7	OTTHUMG00000160048	ENST00000332650.5:c.512C>T	3.37:g.98188932C>T	ENSP00000373193:p.Ser171Leu						p.S171L	NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN			1	609	+			171					B9EGY5|Q6IF46	Missense_Mutation	SNP	ENST00000332650.5	37	c.512C>T	CCDS43115.1	.	.	.	.	.	.	.	.	.	.	C	12.33	1.904258	0.33628	2.27E-4	1.16E-4	ENSG00000232382	ENST00000332650	T	0.38560	1.13	5.33	4.46	0.54185	GPCR, rhodopsin-like superfamily (1);	0.174299	0.27725	N	0.018113	T	0.58090	0.2098	M	0.78801	2.425	0.09310	N	1	D	0.56287	0.975	P	0.56612	0.802	T	0.55302	-0.8162	10	0.66056	D	0.02	-13.0723	11.7681	0.51943	0.0:0.9138:0.0:0.0862	.	171	Q8NHB7	OR5K1_HUMAN	L	171	ENSP00000373193:S171L	ENSP00000373193:S171L	S	+	2	0	OR5K1	99671622	0.000000	0.05858	0.043000	0.18650	0.066000	0.16364	0.199000	0.17237	1.247000	0.43917	-0.253000	0.11424	TCG		0.398	OR5K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359019.1			35	190	0	0	0	1	0	35	190				
C17orf82	388407	broad.mit.edu	37	17	59489575	59489575	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr17:59489575C>G	ENST00000335108.2	+	1	464	c.239C>G	c.(238-240)cCg>cGg	p.P80R	RP11-332H18.4_ENST00000592009.1_RNA	NM_203425.1	NP_982249	Q86X59	CQ082_HUMAN	chromosome 17 open reading frame 82	80										cervix(1)|lung(1)	2						GGAGGAAGCCCGAGCTCCGGG	0.746											OREG0024630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000335108.2																			0				cervix(1)|lung(1)	2						c.(238-240)cCg>cGg		chromosome 17 open reading frame 82							7.0	8.0	8.0					17																	59489575		2122	4206	6328	SO:0001583	missense	388407							g.chr17:59489575C>G	BC046200	CCDS11628.1	17q23.2	2012-10-23			ENSG00000187013	ENSG00000187013			32699	protein-coding gene	gene with protein product							Standard	NM_203425		Approved		uc002izh.1	Q86X59	OTTHUMG00000180077	ENST00000335108.2:c.239C>G	17.37:g.59489575C>G	ENSP00000335229:p.Pro80Arg		OREG0024630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1038		p.P80R	NM_203425.1	NP_982249.1	Q86X59	CQ082_HUMAN			1	464	+			80						Missense_Mutation	SNP	ENST00000335108.2	37	c.239C>G	CCDS11628.1	.	.	.	.	.	.	.	.	.	.	c	11.40	1.626217	0.28978	.	.	ENSG00000187013	ENST00000335108	T	0.57436	0.4	3.58	-7.16	0.01516	.	.	.	.	.	T	0.21881	0.0527	N	0.08118	0	0.09310	N	1	B	0.33777	0.425	B	0.27796	0.083	T	0.21793	-1.0235	9	0.87932	D	0	.	2.8449	0.05540	0.0977:0.2782:0.3538:0.2704	.	80	Q86X59	CQ082_HUMAN	R	80	ENSP00000335229:P80R	ENSP00000335229:P80R	P	+	2	0	C17orf82	56844357	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-2.263000	0.01174	-2.251000	0.00700	-0.355000	0.07637	CCG		0.746	C17orf82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449646.1	NM_203425		3	13	0	0	0	1	0	3	13				
FEZF2	55079	broad.mit.edu	37	3	62355884	62355884	+	Silent	SNP	C	C	T			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr3:62355884C>T	ENST00000283268.3	-	5	1548	c.1254G>A	c.(1252-1254)acG>acA	p.T418T	FEZF2_ENST00000475839.1_Silent_p.T418T|FEZF2_ENST00000486811.1_Silent_p.T418T|PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000490916.1_RNA	NM_018008.3	NP_060478.3	Q8TBJ5	FEZF2_HUMAN	FEZ family zinc finger 2	418					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cerebral cortex GABAergic interneuron migration (GO:0021853)|dendrite development (GO:0016358)|dentate gyrus development (GO:0021542)|forebrain anterior/posterior pattern specification (GO:0021797)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|lung(8)|skin(1)	20		Lung SC(41;0.0262)		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)		AAGTGGCGCACGTGAAAGGCT	0.527																																					NSCLC(170;1772 2053 12525 15604 23984)	ENST00000283268.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|lung(8)|skin(1)	20						c.(1252-1254)acG>acA		FEZ family zinc finger 2							260.0	236.0	244.0					3																	62355884		2203	4300	6503	SO:0001819	synonymous_variant	55079				transcription, DNA-dependent	nucleus	zinc ion binding	g.chr3:62355884C>T	AF064845	CCDS2897.1	3p21.1	2013-01-08	2006-08-15	2006-08-15	ENSG00000153266	ENSG00000153266		"""Zinc fingers, C2H2-type"""	13506	protein-coding gene	gene with protein product		607414	"""zinc finger protein 312"""	ZNF312			Standard	NM_018008		Approved	FLJ10142, FKSG36, TOF, FEZL, Zfp312	uc003dli.2	Q8TBJ5	OTTHUMG00000158705	ENST00000283268.3:c.1254G>A	3.37:g.62355884C>T						FEZF2_ENST00000486811.1_Silent_p.T418T|FEZF2_ENST00000475839.1_Silent_p.T418T	p.T418T	NM_018008.3	NP_060478.3	Q8TBJ5	FEZF2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)	5	1548	-		Lung SC(41;0.0262)	418					A8K349|Q9BZ91|Q9NWB9	Silent	SNP	ENST00000283268.3	37	c.1254G>A	CCDS2897.1																																																																																				0.527	FEZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351813.1	NM_018008		4	192	0	0	0	1	0	4	192				
ZNF208	7757	broad.mit.edu	37	19	22157111	22157111	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr19:22157111G>T	ENST00000397126.4	-	4	873	c.725C>A	c.(724-726)tCa>tAa	p.S242*	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	242					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				AGTAAGGATTGAGAACTTACT	0.368																																						ENST00000397126.4																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113						c.(724-726)tCa>tAa		zinc finger protein 208							40.0	44.0	42.0					19																	22157111		2092	4236	6328	SO:0001587	stop_gained	7757							g.chr19:22157111G>T	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.725C>A	19.37:g.22157111G>T	ENSP00000380315:p.Ser242*					ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	p.S242*	NM_007153.3	NP_009084.2					4	873	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Nonsense_Mutation	SNP	ENST00000397126.4	37	c.725C>A	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	G	17.96	3.516662	0.64634	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	.	.	.	2.93	-0.182	0.13287	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.1962	0.15239	0.1636:0.1923:0.6441:0.0	.	.	.	.	X	242	.	ENSP00000380315:S242X	S	-	2	0	ZNF208	21948951	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.085000	0.11250	0.038000	0.15604	0.313000	0.20887	TCA		0.368	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		11	53	1	0	3.03607e-14	1	3.3272e-14	11	53				
PSG9	5678	broad.mit.edu	37	19	43766196	43766196	+	Silent	SNP	G	G	A	rs150952802		TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr19:43766196G>A	ENST00000270077.3	-	3	621	c.525C>T	c.(523-525)gaC>gaT	p.D175D	PSG9_ENST00000291752.5_Intron|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000244293.7_Silent_p.D175D|PSG9_ENST00000593948.1_Silent_p.D175D|PSG9_ENST00000418820.2_Intron|PSG9_ENST00000443718.3_Intron	NM_002784.3	NP_002775.3	Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	175	Ig-like C2-type 1.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				GGTAGCTTGCGTCCAGAGTCT	0.532																																						ENST00000244293.7																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(523-525)gaC>gaT		pregnancy specific beta-1-glycoprotein 9							246.0	238.0	241.0					19																	43766196		2203	4300	6503	SO:0001819	synonymous_variant	5678				female pregnancy	extracellular region		g.chr19:43766196G>A	M34481	CCDS12618.1	19q13.2	2013-01-29			ENSG00000183668	ENSG00000183668		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9526	protein-coding gene	gene with protein product		176398		PSG11		7806221	Standard	XM_005259076		Approved	PSGII	uc002owd.4	Q00887	OTTHUMG00000182826	ENST00000270077.3:c.525C>T	19.37:g.43766196G>A						PSG9_ENST00000593948.1_Silent_p.D175D|PSG9_ENST00000443718.3_Intron|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000418820.2_Intron|PSG9_ENST00000270077.3_Silent_p.D175D	p.D175D			Q00887	PSG9_HUMAN			3	591	-		Prostate(69;0.00682)	175			Ig-like C2-type 1.		B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Silent	SNP	ENST00000270077.3	37	c.525C>T	CCDS12618.1																																																																																				0.532	PSG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323065.1	NM_002784		5	403	0	0	0	1	0	5	403				
KIR3DL2	3812	broad.mit.edu	37	19	55361943	55361943	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr19:55361943G>A	ENST00000326321.3	+	1	46	c.13G>A	c.(13-15)Gtc>Atc	p.V5I	KIR3DL1_ENST00000402254.2_Intron|KIR3DL2_ENST00000270442.5_Missense_Mutation_p.V5I|KIR2DS4_ENST00000339924.8_RNA	NM_006737.3	NP_006728.2	P43630	KI3L2_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2	5					cellular defense response (GO:0006968)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		GTCGCTCACGGTCGTCAGCAT	0.607																																						ENST00000326321.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23						c.(13-15)Gtc>Atc		killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2							42.0	58.0	54.0					19																	55361943		732	1870	2602	SO:0001583	missense	3812				cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity	g.chr19:55361943G>A	L41270	CCDS12906.1, CCDS58677.1	19q13.4	2014-05-22			ENSG00000240403	ENSG00000240403		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6339	protein-coding gene	gene with protein product		604947				7716543, 8662091	Standard	NM_006737		Approved	cl-5, nkat4, nkat4a, nkat4b, CD158K	uc002qho.4	P43630	OTTHUMG00000065935	ENST00000326321.3:c.13G>A	19.37:g.55361943G>A	ENSP00000325525:p.Val5Ile					KIR3DL1_ENST00000402254.2_Intron|KIR3DL2_ENST00000270442.5_Missense_Mutation_p.V5I	p.V5I	NM_006737.3	NP_006728.2	P43630	KI3L2_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	1	46	+			5					Q13238|Q14947|Q14948|Q92684|Q95366|Q95367|Q95368	Missense_Mutation	SNP	ENST00000326321.3	37	c.13G>A	CCDS12906.1	.	.	.	.	.	.	.	.	.	.	g	10.22	1.290958	0.23564	.	.	ENSG00000240403	ENST00000326321;ENST00000270442	T;T	0.00490	7.03;7.06	0.868	-1.74	0.08056	.	.	.	.	.	T	0.00724	0.0024	L	0.55834	1.745	0.09310	N	1	B;P	0.52692	0.1;0.955	B;D	0.66716	0.109;0.946	T	0.49978	-0.8881	9	0.87932	D	0	.	1.4191	0.02308	0.3594:0.0:0.3068:0.3338	.	5;5	Q95366;P43630	.;KI3L2_HUMAN	I	5	ENSP00000325525:V5I;ENSP00000270442:V5I	ENSP00000270442:V5I	V	+	1	0	KIR3DL2	60053755	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.773000	0.04689	-0.965000	0.03591	0.184000	0.17185	GTC		0.607	KIR3DL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000141241.1			27	59	0	0	0	1	0	27	59				
NUDT10	170685	broad.mit.edu	37	X	51076024	51076024	+	Silent	SNP	G	G	A	rs143435240		TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chrX:51076024G>A	ENST00000376006.3	+	2	427	c.207G>A	c.(205-207)gaG>gaA	p.E69E	NUDT10_ENST00000356450.2_Silent_p.E69E	NM_153183.2	NP_694853.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 10	234					ADP catabolic process (GO:0046032)|IDP catabolic process (GO:0046709)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrial matrix (GO:0005759)	adenosine-diphosphatase activity (GO:0043262)|ADP-ribose diphosphatase activity (GO:0047631)|ADP-sugar diphosphatase activity (GO:0019144)	p.E69E(8)		cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16	Ovarian(276;0.236)					TGTACGAAGAGGCGGGAGTCA	0.657																																					NSCLC(90;1817 2035 37909 38249)	ENST00000376006.3																			8	Substitution - coding silent(8)	p.E69E(8)	endometrium(5)|cervix(1)|prostate(1)|lung(1)	cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16						c.(205-207)gaG>gaA		nudix (nucleoside diphosphate linked moiety X)-type motif 10							52.0	62.0	59.0					X																	51076024		2203	4300	6503	SO:0001819	synonymous_variant	170685					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51076024G>A	AF469196	CCDS35278.1	Xp11.22-p11.1	2014-05-20			ENSG00000122824	ENSG00000122824		"""Nudix motif containing"""	17621	protein-coding gene	gene with protein product		300527				12105228	Standard	NM_153183		Approved	DIPP3a, hDIPP3alpha	uc004dph.3	Q8NFP7	OTTHUMG00000021530	ENST00000376006.3:c.207G>A	X.37:g.51076024G>A						NUDT10_ENST00000356450.2_Silent_p.E69E	p.E69E	NM_153183.2	NP_694853.1	Q8NFP7	NUD10_HUMAN			2	427	+	Ovarian(276;0.236)		69			Nudix hydrolase.		Q8NBN1|Q8NCB9|Q8NG25	Silent	SNP	ENST00000376006.3	37	c.207G>A	CCDS35278.1																																																																																				0.657	NUDT10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056578.1	NM_153183		3	35	0	0	0	1	0	3	35				
SLC39A3	29985	broad.mit.edu	37	19	2732937	2732937	+	Missense_Mutation	SNP	C	C	A			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr19:2732937C>A	ENST00000269740.4	-	3	1086	c.757G>T	c.(757-759)Gcc>Tcc	p.A253S	AC006538.4_ENST00000586572.1_Intron|SLC39A3_ENST00000545664.1_Missense_Mutation_p.A253S	NM_144564.4	NP_653165.2	Q9BRY0	S39A3_HUMAN	solute carrier family 39 (zinc transporter), member 3	253					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10		Hepatocellular(1079;0.137)		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)		ACGCCCTGGGCGCTCTCAATG	0.711																																						ENST00000269740.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10						c.(757-759)Gcc>Tcc		solute carrier family 39 (zinc transporter), member 3							26.0	26.0	26.0					19																	2732937		2201	4293	6494	SO:0001583	missense	29985					integral to membrane|plasma membrane	zinc ion transmembrane transporter activity	g.chr19:2732937C>A	AF052125	CCDS12093.1, CCDS45909.1	19p13.3	2013-05-22			ENSG00000141873	ENSG00000141873		"""Solute carriers"""	17128	protein-coding gene	gene with protein product		612168				10681536	Standard	NM_144564		Approved	ZIP3	uc002lwg.3	Q9BRY0		ENST00000269740.4:c.757G>T	19.37:g.2732937C>A	ENSP00000269740:p.Ala253Ser					SLC39A3_ENST00000545664.1_Missense_Mutation_p.A253S|AC006538.4_ENST00000586572.1_Intron	p.A253S	NM_144564.4	NP_653165.2	Q9BRY0	S39A3_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)	3	1086	-		Hepatocellular(1079;0.137)	253					B3KMJ3|Q8WUG1	Missense_Mutation	SNP	ENST00000269740.4	37	c.757G>T	CCDS12093.1	.	.	.	.	.	.	.	.	.	.	C	7.889	0.731868	0.15507	.	.	ENSG00000141873	ENST00000545664;ENST00000269740	T;T	0.44083	0.93;0.93	4.74	2.19	0.27852	.	0.322397	0.32244	N	0.006379	T	0.25306	0.0615	L	0.28458	0.855	0.80722	D	1	B;B	0.32010	0.351;0.267	B;B	0.32211	0.142;0.133	T	0.03335	-1.1047	10	0.10377	T	0.69	-32.0434	9.0984	0.36653	0.0:0.7343:0.0:0.2657	.	253;253	F5H385;Q9BRY0	.;S39A3_HUMAN	S	253	ENSP00000445345:A253S;ENSP00000269740:A253S	ENSP00000269740:A253S	A	-	1	0	SLC39A3	2683937	0.901000	0.30685	0.967000	0.41034	0.131000	0.20780	1.182000	0.32029	0.987000	0.38709	-0.391000	0.06502	GCC		0.711	SLC39A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451354.2			8	68	1	0	0.000157383	1	0.000161419	8	68				
TRNAU1AP	54952	broad.mit.edu	37	1	28906820	28906820	+	IGR	DEL	A	A	-			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr1:28906820delA	ENST00000373830.3	+	0	1793				SNHG12_ENST00000384342.1_RNA|SNHG12_ENST00000488745.1_RNA|SNHG12_ENST00000384584.1_RNA|SNHG12_ENST00000531126.1_RNA|SNHG12_ENST00000475441.1_RNA|SNHG12_ENST00000384581.1_RNA|SNORD99_ENST00000408612.1_RNA|SNHG12_ENST00000483436.1_RNA	NM_017846.4	NP_060316.1	Q9NX07	TSAP1_HUMAN	tRNA selenocysteine 1 associated protein 1						selenocysteine incorporation (GO:0001514)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	8						actccgtctcaaaaaaaaaaa	0.493																																						ENST00000488745.1																			0																																																	SO:0001628	intergenic_variant	85028							g.chr1:28906820delA		CCDS324.1	1p35.3	2013-02-12	2008-09-05	2008-09-05	ENSG00000180098	ENSG00000180098		"""RNA binding motif (RRM) containing"""	30813	protein-coding gene	gene with protein product			"""tRNA selenocysteine associated protein 1"""	TRSPAP1		10606267, 16230358	Standard	NM_017846		Approved	SECP43, FLJ20503	uc001bqi.3	Q9NX07	OTTHUMG00000003653		1.37:g.28906820delA						SNHG12_ENST00000483436.1_RNA|SNHG12_ENST00000531126.1_RNA|SNHG12_ENST00000475441.1_RNA								0	1100	-								Q86SU7	RNA	DEL	ENST00000373830.3	37		CCDS324.1																																																																																				0.493	TRNAU1AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010346.1	NM_017846		3	4						3	4	---	---	---	---
RPTN	126638	broad.mit.edu	37	1	152128277	152128280	+	Frame_Shift_Del	DEL	TGTC	TGTC	-			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr1:152128277_152128280delTGTC	ENST00000316073.3	-	3	1359_1362	c.1295_1298delGACA	c.(1294-1299)agacaafs	p.RQ432fs		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	432	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.R432K(1)		breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ACTCTGGCCTTGTCTGTCTGTCTG	0.525																																						ENST00000316073.3																			1	Substitution - Missense(1)	p.R432K(1)	lung(1)	breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(1294-1299)aafs		repetin																																				SO:0001589	frameshift_variant	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152128277_152128280delTGTC	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"""EF-hand domain containing"""	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.1295_1298delGACA	1.37:g.152128285_152128288delTGTC	ENSP00000317895:p.Arg432fs						p.RQ432fs	NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN			3	1359_1362	-			432			Gln-rich.		B7ZBZ3	Frame_Shift_Del	DEL	ENST00000316073.3	37	c.1295_1298delGACA	CCDS41397.1																																																																																				0.525	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		7	1288						7	1288	---	---	---	---
MBD5	55777	broad.mit.edu	37	2	149247884	149247886	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr2:149247884_149247886delTCT	ENST00000407073.1	+	12	4981_4983	c.3984_3986delTCT	c.(3982-3987)tctctg>tcg	p.L1329del	MBD5_ENST00000404807.1_In_Frame_Del_p.L1562del	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1329					glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		TGGAAAATTCTCTGGTCAAAGAC	0.448																																						ENST00000407073.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62						c.(3982-3987)tcg>tc		methyl-CpG binding domain protein 5																																				SO:0001651	inframe_deletion	55777					chromosome|nucleus	chromatin binding|DNA binding	g.chr2:149247884_149247886delTCT	AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.3984_3986delTCT	2.37:g.149247884_149247886delTCT	ENSP00000386049:p.Leu1329del					MBD5_ENST00000404807.1_In_Frame_Del_p.SL1561del	p.SL1328del	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0569)	12	4981_4983	+			1328					A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	In_Frame_Del	DEL	ENST00000407073.1	37	c.3984_3986delTCT	CCDS33302.1																																																																																				0.448	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318111.2			11	56						11	56	---	---	---	---
PMS2CL	441194	broad.mit.edu	37	7	6761577	6761578	+	RNA	INS	-	-	CCT			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr7:6761577_6761578insCCT	ENST00000486256.1	+	0	346					NR_002217.1		Q68D20	PMS2L_HUMAN	PMS2 C-terminal like pseudogene																		ATCATCCACCACCTCCTGGAGG	0.589																																						ENST00000486256.1																			0																																																			441194							g.chr7:6761577_6761578insCCT	BC041364		7p22.1	2010-10-26			ENSG00000187953	ENSG00000187953			30061	pseudogene	pseudogene	"""postmeiotic segregation increased 2 pseudogene 13"""					15256438, 17253626	Standard	NR_002217		Approved	PMS2P13	uc011jxb.1	Q68D20	OTTHUMG00000151857		7.37:g.6761581_6761583dupCCT								NR_002217.1						0	346	+								B4DK88|Q764P1	RNA	INS	ENST00000486256.1	37																																																																																						0.589	PMS2CL-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000324193.1	NR_002217		2	4						2	4	---	---	---	---
RP11-428C19.4	0	broad.mit.edu	37	11	19296063	19296063	+	RNA	DEL	A	A	-			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr11:19296063delA	ENST00000527978.1	+	0	339																											actctgtttcaaaaaaaaaaa	0.478																																						ENST00000527978.1																			0																																																			0							g.chr11:19296063delA																													11.37:g.19296063delA														0	339	+									RNA	DEL	ENST00000527978.1	37																																																																																						0.478	RP11-428C19.4-001	KNOWN	basic	antisense	antisense	OTTHUMT00000387829.1			3	5						3	5	---	---	---	---
CDK2AP2	10263	broad.mit.edu	37	11	67275483	67275483	+	Frame_Shift_Del	DEL	G	G	-			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr11:67275483delG	ENST00000301488.3	-	1	619	c.71delC	c.(70-72)ccgfs	p.P24fs	CDK2AP2_ENST00000531506.1_Frame_Shift_Del_p.P24fs|PITPNM1_ENST00000436757.2_5'Flank|PITPNM1_ENST00000356404.3_5'Flank	NM_005851.3	NP_005842.1	O75956	CDKA2_HUMAN	cyclin-dependent kinase 2 associated protein 2	24										lung(1)	1						TGTAGGGACCGGGGTGCCCGG	0.692																																						ENST00000301488.3																			0				lung(1)	1						c.(70-72)cgfs		cyclin-dependent kinase 2 associated protein 2							5.0	6.0	6.0					11																	67275483		2008	3951	5959	SO:0001589	frameshift_variant	10263							g.chr11:67275483delG	AF089814	CCDS8169.1	11q13	2010-05-17	2008-11-04		ENSG00000167797	ENSG00000167797			30833	protein-coding gene	gene with protein product	"""tumor suppressor deleted in oral cancer related 1"""		"""CDK2-associated protein 2"""			10082655	Standard	NM_005851		Approved	DOC-1R, p14	uc001oma.4	O75956		ENST00000301488.3:c.71delC	11.37:g.67275483delG	ENSP00000301488:p.Pro24fs					CDK2AP2_ENST00000531506.1_Frame_Shift_Del_p.P24fs	p.P24fs	NM_005851.3	NP_005842.1	O75956	CDKA2_HUMAN			1	619	-			24						Frame_Shift_Del	DEL	ENST00000301488.3	37	c.71delC	CCDS8169.1																																																																																				0.692	CDK2AP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395535.1	NM_005851		2	4						2	4	---	---	---	---
LOC101928823	101928823	broad.mit.edu	37	11	112332121	112332121	+	lincRNA	DEL	T	T	-	rs545871933	byFrequency	TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr11:112332121delT	ENST00000528496.1	+	0	231																											TGATTTTATGTTTTTTTTTTT	0.378																																						ENST00000528496.1																			0																																																			101928823							g.chr11:112332121delT																													11.37:g.112332121delT														0	231	+									RNA	DEL	ENST00000528496.1	37																																																																																						0.378	RP11-65M17.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000393672.1			2	4						2	4	---	---	---	---
HERC2P9	440248	broad.mit.edu	37	15	28913366	28913367	+	RNA	INS	-	-	T			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr15:28913366_28913367insT	ENST00000528584.1	+	0	1224					NR_036443.1				hect domain and RLD 2 pseudogene 9																		TTGAGTTCTCCTTTTTTTTTTT	0.307																																						ENST00000528584.1																			0																																																			440248							g.chr15:28913366_28913367insT	BC047911		15q13.1	2011-05-24			ENSG00000206149	ENSG00000206149			30495	pseudogene	pseudogene							Standard	NR_036443		Approved	FLJ59185	uc010azc.3		OTTHUMG00000167114		15.37:g.28913377_28913377dupT								NR_036443.1						0	1224	+									RNA	INS	ENST00000528584.1	37																																																																																						0.307	HERC2P9-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000393268.1	NR_036443		3	4						3	4	---	---	---	---
LILRB2	10288	broad.mit.edu	37	19	54780707	54780709	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chr19:54780707_54780709delGAG	ENST00000391749.4	-	10	1706_1708	c.1435_1437delCTC	c.(1435-1437)ctcdel	p.L479del	LILRB2_ENST00000391748.1_In_Frame_Del_p.L478del|LILRB2_ENST00000391746.1_In_Frame_Del_p.L479del|LILRB2_ENST00000471216.1_5'Flank|LILRB2_ENST00000314446.5_In_Frame_Del_p.L478del|LILRB2_ENST00000434421.1_In_Frame_Del_p.L363del	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	479					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|negative regulation of antigen processing and presentation (GO:0002578)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of dendritic cell differentiation (GO:2001198)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|inhibitory MHC class I receptor activity (GO:0032396)|MHC class I protein binding (GO:0042288)|MHC class Ib protein binding (GO:0023029)|protein phosphatase 1 binding (GO:0008157)|receptor activity (GO:0004872)	p.L479L(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ggatgaggaagaggaggaggagg	0.611																																						ENST00000391748.1																			1	Substitution - coding silent(1)	p.L479L(1)	lung(1)	breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44						c.(1432-1434)del		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2																																				SO:0001651	inframe_deletion	10288				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	g.chr19:54780707_54780709delGAG	AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6606	protein-coding gene	gene with protein product		604815				9151699, 9079806	Standard	XM_006722966		Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391749.4:c.1435_1437delCTC	19.37:g.54780716_54780718delGAG	ENSP00000375629:p.Leu479del					LILRB2_ENST00000314446.5_In_Frame_Del_p.L478del|LILRB2_ENST00000391746.1_In_Frame_Del_p.L479del|LILRB2_ENST00000391749.4_In_Frame_Del_p.L479del|LILRB2_ENST00000434421.1_In_Frame_Del_p.L363del	p.L478del	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	10	1559_1561	-	Ovarian(34;0.19)		479					A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	In_Frame_Del	DEL	ENST00000391749.4	37	c.1432_1434delCTC	CCDS12886.1																																																																																				0.611	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139510.1			7	197						7	197	---	---	---	---
FLNA	2316	broad.mit.edu	37	X	153594745	153594745	+	Frame_Shift_Del	DEL	G	G	-			TCGA-IQ-A61J-01A-11D-A30E-08	TCGA-IQ-A61J-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fe4298f-82f3-4228-bfa4-d937a7efc4ff	ab7abe4d-2eb2-4598-bdf9-0f2604b148aa	g.chrX:153594745delG	ENST00000369850.3	-	8	1395	c.1159delC	c.(1159-1161)caafs	p.Q387fs	FLNA_ENST00000360319.4_Frame_Shift_Del_p.Q387fs|FLNA_ENST00000344736.4_Frame_Shift_Del_p.Q387fs|FLNA_ENST00000422373.1_Frame_Shift_Del_p.Q387fs	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	387					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCGGGACCTTGGGCTGTCACT	0.597																																						ENST00000422373.1																			0				breast(6)	6						c.(1159-1161)aafs		filamin A, alpha							75.0	76.0	76.0					X																	153594745		2131	4233	6364	SO:0001589	frameshift_variant	2316				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153594745delG	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.1159delC	X.37:g.153594745delG	ENSP00000358866:p.Gln387fs					FLNA_ENST00000369850.3_Frame_Shift_Del_p.Q387fs|FLNA_ENST00000344736.4_Frame_Shift_Del_p.Q387fs|FLNA_ENST00000360319.4_Frame_Shift_Del_p.Q387fs	p.Q387fs	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN			8	1407	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		387					E9KL45|Q5HY53|Q5HY55|Q8NF52	Frame_Shift_Del	DEL	ENST00000369850.3	37	c.1159delC	CCDS48194.1																																																																																				0.597	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			19	29						19	29	---	---	---	---
