#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
RBBP4	5928	broad.mit.edu	37	1	33138283	33138283	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr1:33138283G>A	ENST00000373493.5	+	10	1243	c.1084G>A	c.(1084-1086)Ggg>Agg	p.G362R	RBBP4_ENST00000373485.1_Missense_Mutation_p.G362R|RBBP4_ENST00000414241.3_Missense_Mutation_p.G361R|RBBP4_ENST00000458695.2_Missense_Mutation_p.G327R|RBBP4_ENST00000544435.1_Missense_Mutation_p.G110R	NM_001135255.1|NM_005610.2	NP_001128727.1|NP_005601.1	Q09028	RBBP4_HUMAN	retinoblastoma binding protein 4	362					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin assembly (GO:0031497)|chromatin remodeling (GO:0006338)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|nucleosome assembly (GO:0006334)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|NURF complex (GO:0016589)|protein complex (GO:0043234)|Sin3 complex (GO:0016580)	histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				TGCAGAAGACGGGCCACCAGA	0.368																																						ENST00000373493.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	15						c.(1084-1086)Ggg>Agg		retinoblastoma binding protein 4							49.0	52.0	51.0					1																	33138283		2202	4300	6502	SO:0001583	missense	5928				cell cycle|CenH3-containing nucleosome assembly at centromere|DNA replication|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|ESC/E(Z) complex|NuRD complex|NURF complex|Sin3 complex	histone binding|histone deacetylase binding	g.chr1:33138283G>A	BC053904	CCDS366.1, CCDS44105.1, CCDS44106.1	1p35.1	2014-07-17	2001-11-28		ENSG00000162521	ENSG00000162521		"""WD repeat domain containing"""	9887	protein-coding gene	gene with protein product		602923	"""retinoblastoma-binding protein 4"""			8350924, 14609955, 17531812	Standard	NM_005610		Approved	RbAp48, NURF55, lin-53	uc001bvr.3	Q09028	OTTHUMG00000007998	ENST00000373493.5:c.1084G>A	1.37:g.33138283G>A	ENSP00000362592:p.Gly362Arg					RBBP4_ENST00000373485.1_Missense_Mutation_p.G362R|RBBP4_ENST00000414241.3_Missense_Mutation_p.G361R|RBBP4_ENST00000544435.1_Missense_Mutation_p.G110R|RBBP4_ENST00000458695.2_Missense_Mutation_p.G327R	p.G362R	NM_001135255.1|NM_005610.2	NP_001128727.1|NP_005601.1	Q09028	RBBP4_HUMAN			10	1243	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)	362					B2R6G9|B4DRH0|D3DPQ3|P31149|Q53H02|Q96BV9	Missense_Mutation	SNP	ENST00000373493.5	37	c.1084G>A	CCDS366.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.0|26.0	4.691683|4.691683	0.88735|0.88735	.|.	.|.	ENSG00000162521|ENSG00000162521	ENST00000414241;ENST00000373493;ENST00000544435;ENST00000373485;ENST00000458695;ENST00000482190|ENST00000475321	T;T;T;T;T;T|.	0.69435|.	-0.4;-0.4;-0.4;-0.4;-0.4;-0.4|.	4.62|4.62	4.62|4.62	0.57501|0.57501	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87120|0.87120	0.6098|0.6098	H|H	0.95079|0.95079	3.62|3.62	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.999|.	D;P|.	0.68483|.	0.958;0.87|.	D|D	0.91371|0.91371	0.5119|0.5119	10|5	0.62326|.	D|.	0.03|.	.|.	16.8132|16.8132	0.85726|0.85726	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	361;362|.	Q09028-2;Q09028|.	.;RBBP4_HUMAN|.	R|Q	361;362;110;362;327;100|164	ENSP00000398242:G361R;ENSP00000362592:G362R;ENSP00000442384:G110R;ENSP00000362584:G362R;ENSP00000396057:G327R;ENSP00000436565:G100R|.	ENSP00000362584:G362R|.	G|R	+|+	1|2	0|0	RBBP4|RBBP4	32910870|32910870	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.965000|0.965000	0.64279|0.64279	9.852000|9.852000	0.99516|0.99516	2.279000|2.279000	0.76181|0.76181	0.591000|0.591000	0.81541|0.81541	GGG|CGG		0.368	RBBP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021957.3	NM_005610		3	25	0	0	0	1	0	3	25				
TNIK	23043	broad.mit.edu	37	3	170805171	170805171	+	Missense_Mutation	SNP	C	C	T	rs376646276	byFrequency	TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr3:170805171C>T	ENST00000436636.2	-	24	3190	c.2846G>A	c.(2845-2847)cGc>cAc	p.R949H	TNIK_ENST00000357327.5_Missense_Mutation_p.R920H|TNIK_ENST00000460047.1_Missense_Mutation_p.R886H|TNIK_ENST00000488470.1_Missense_Mutation_p.R894H|TNIK_ENST00000284483.8_Missense_Mutation_p.R941H|TNIK_ENST00000470834.1_Missense_Mutation_p.R912H|TNIK_ENST00000538048.1_Missense_Mutation_p.R901H|TNIK_ENST00000475336.1_Missense_Mutation_p.R857H|TNIK_ENST00000341852.6_Missense_Mutation_p.R865H|TNIK_ENST00000369326.5_Missense_Mutation_p.R927H	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	949	Mediates interaction with NEDD4.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			GGTTGAGACGCGCCCCAGTCC	0.582													C|||	2	0.000399361	0.0008	0.0	5008	,	,		18809	0.0		0.001	False		,,,				2504	0.0					ENST00000436636.2																			0				cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62						c.(2845-2847)cGc>cAc		TRAF2 and NCK interacting kinase		C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	2,4016		0,2,2007	76.0	79.0	78.0		2822,2759,2735,2681,2657,2594,2570,2846	5.9	0.8	3		78	2,8358		0,2,4178	no	missense,missense,missense,missense,missense,missense,missense,missense	TNIK	NM_001161560.1,NM_001161561.1,NM_001161562.1,NM_001161563.1,NM_001161564.1,NM_001161565.1,NM_001161566.1,NM_015028.2	29,29,29,29,29,29,29,29	0,4,6185	TT,TC,CC		0.0239,0.0498,0.0323	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	941/1353,920/1332,912/1324,894/1306,886/1298,865/1277,857/1269,949/1361	170805171	4,12374	2009	4180	6189	SO:0001583	missense	23043				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr3:170805171C>T	AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.2846G>A	3.37:g.170805171C>T	ENSP00000399511:p.Arg949His					TNIK_ENST00000470834.1_Missense_Mutation_p.R912H|TNIK_ENST00000341852.6_Missense_Mutation_p.R865H|TNIK_ENST00000460047.1_Missense_Mutation_p.R886H|TNIK_ENST00000488470.1_Missense_Mutation_p.R894H|TNIK_ENST00000369326.5_Missense_Mutation_p.R927H|TNIK_ENST00000357327.5_Missense_Mutation_p.R920H|TNIK_ENST00000284483.8_Missense_Mutation_p.R941H|TNIK_ENST00000538048.1_Missense_Mutation_p.R901H|TNIK_ENST00000475336.1_Missense_Mutation_p.R857H	p.R949H	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		24	3190	-	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		949			Mediates interaction with NEDD4.		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Missense_Mutation	SNP	ENST00000436636.2	37	c.2846G>A	CCDS46956.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.042874	0.75732	4.98E-4	2.39E-4	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834	T;T;T;T;T;T;T;T;T;T	0.72942	-0.7;-0.69;-0.69;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7	5.93	5.93	0.95920	.	0.147460	0.46145	D	0.000306	T	0.68723	0.3032	N	0.08118	0	0.53688	D	0.999975	D;D;D;D;D;D;D;B	0.71674	0.986;0.998;0.986;0.986;0.998;0.998;0.986;0.345	P;P;P;P;D;P;P;B	0.64042	0.674;0.885;0.674;0.674;0.921;0.885;0.674;0.056	T	0.65467	-0.6161	10	0.14656	T	0.56	.	20.3539	0.98825	0.0:1.0:0.0:0.0	.	857;912;886;865;941;920;894;949	Q9UKE5-8;Q9UKE5-6;Q9UKE5-7;Q9UKE5-5;Q9UKE5-4;Q9UKE5-2;Q9UKE5-3;Q9UKE5	.;.;.;.;.;.;.;TNIK_HUMAN	H	949;927;901;865;941;857;920;886;894;912	ENSP00000399511:R949H;ENSP00000358332:R927H;ENSP00000443278:R901H;ENSP00000345352:R865H;ENSP00000284483:R941H;ENSP00000418156:R857H;ENSP00000349880:R920H;ENSP00000418916:R886H;ENSP00000418378:R894H;ENSP00000419990:R912H	ENSP00000284483:R941H	R	-	2	0	TNIK	172287865	1.000000	0.71417	0.844000	0.33320	0.726000	0.41606	4.082000	0.57635	2.826000	0.97356	0.655000	0.94253	CGC		0.582	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796		7	75	0	0	0	1	0	7	75				
NRN1	51299	broad.mit.edu	37	6	6002627	6002627	+	Silent	SNP	C	C	T			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr6:6002627C>T	ENST00000244766.2	-	2	376	c.159G>A	c.(157-159)ccG>ccA	p.P53P	NRN1_ENST00000495850.1_5'UTR	NM_001278710.1|NM_016588.2	NP_001265639.1|NP_057672.1	Q9NPD7	NRN1_HUMAN	neuritin 1	53					nervous system development (GO:0007399)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|anchored component of membrane (GO:0031225)|cell junction (GO:0030054)|synapse (GO:0045202)				endometrium(2)|large_intestine(2)|lung(4)	8	Ovarian(93;0.0816)	all_hematologic(90;0.151)		OV - Ovarian serous cystadenocarcinoma(45;0.00415)		CCAGGCCCTGCGGGTAGTTGG	0.602																																						ENST00000244766.2																			0				endometrium(2)|large_intestine(2)|lung(4)	8						c.(157-159)ccG>ccA		neuritin 1							152.0	128.0	136.0					6																	6002627		2203	4300	6503	SO:0001819	synonymous_variant	51299					anchored to membrane|plasma membrane		g.chr6:6002627C>T	AF136631	CCDS4495.1, CCDS75393.1	6p25.1	2008-02-05			ENSG00000124785	ENSG00000124785			17972	protein-coding gene	gene with protein product		607409				9122250	Standard	NM_016588		Approved	NRN	uc003mwu.3	Q9NPD7	OTTHUMG00000014184	ENST00000244766.2:c.159G>A	6.37:g.6002627C>T						NRN1_ENST00000495850.1_5'UTR	p.P53P	NM_016588.2	NP_057672.1	Q9NPD7	NRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.00415)	2	376	-	Ovarian(93;0.0816)	all_hematologic(90;0.151)	53					B2RA93|Q7Z4Y1	Silent	SNP	ENST00000244766.2	37	c.159G>A	CCDS4495.1																																																																																				0.602	NRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039753.1			6	63	0	0	0	1	0	6	63				
ZNF626	199777	broad.mit.edu	37	19	20807419	20807419	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr19:20807419C>G	ENST00000601440.1	-	4	1410	c.1264G>C	c.(1264-1266)Gag>Cag	p.E422Q	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	422					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|lung(3)|skin(1)	6						TAGGGTCTCTCTCCAGTATGA	0.378																																						ENST00000601440.1																			0				breast(1)|endometrium(1)|lung(3)|skin(1)	6						c.(1264-1266)Gag>Cag		zinc finger protein 626							51.0	48.0	49.0					19																	20807419		2127	4246	6373	SO:0001583	missense	199777				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20807419C>G	BC007116	CCDS32976.1, CCDS42535.1	19p13.11	2013-01-08				ENSG00000188171		"""Zinc fingers, C2H2-type"", ""-"""	30461	protein-coding gene	gene with protein product						12477932	Standard	NM_145297		Approved		uc002npb.1	Q68DY1		ENST00000601440.1:c.1264G>C	19.37:g.20807419C>G	ENSP00000469958:p.Glu422Gln					CTC-513N18.7_ENST00000595094.1_lincRNA	p.E422Q	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN			4	1410	-			422					Q8N8T4|Q96QM1	Missense_Mutation	SNP	ENST00000601440.1	37	c.1264G>C	CCDS42535.1	.	.	.	.	.	.	.	.	.	.	N	0.836	-0.743448	0.03088	.	.	ENSG00000188171	ENST00000392298;ENST00000453075;ENST00000305570	.	.	.	0.898	0.898	0.19264	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.46444	0.1393	L	0.52905	1.665	0.80722	D	1	P	0.45396	0.857	B	0.43445	0.42	T	0.43877	-0.9364	8	0.72032	D	0.01	.	7.1275	0.25479	0.0:1.0:0.0:0.0	.	422	Q68DY1	ZN626_HUMAN	Q	422;346;422	.	ENSP00000445201:E422Q	E	-	1	0	ZNF626	20599259	0.021000	0.18746	0.005000	0.12908	0.005000	0.04900	1.373000	0.34272	0.284000	0.22305	0.289000	0.19496	GAG		0.378	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447845.2	NM_145297		5	26	0	0	0	1	0	5	26				
KCNK13	56659	broad.mit.edu	37	14	90651171	90651171	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr14:90651171G>C	ENST00000282146.4	+	2	1492	c.1051G>C	c.(1051-1053)Gac>Cac	p.D351H		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	351					synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				CTCCATGAAGGACTTGCTGGC	0.627																																						ENST00000282146.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25						c.(1051-1053)Gac>Cac		potassium channel, subfamily K, member 13							46.0	47.0	47.0					14																	90651171		2203	4299	6502	SO:0001583	missense	56659					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr14:90651171G>C	AF287303	CCDS9889.1	14q32.11	2012-03-07				ENSG00000152315		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6275	protein-coding gene	gene with protein product		607367				11060316, 16382106	Standard	NM_022054		Approved	K2p13.1, THIK-1, THIK1	uc001xye.1	Q9HB14		ENST00000282146.4:c.1051G>C	14.37:g.90651171G>C	ENSP00000282146:p.Asp351His						p.D351H	NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN			2	1492	+		all_cancers(154;0.186)	351					B5TJL8|Q96E79	Missense_Mutation	SNP	ENST00000282146.4	37	c.1051G>C	CCDS9889.1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.066416	0.55539	.	.	ENSG00000152315	ENST00000282146	T	0.42900	0.96	5.18	5.18	0.71444	.	0.347477	0.21031	N	0.081346	T	0.68632	0.3022	M	0.83012	2.62	0.80722	D	1	D	0.76494	0.999	D	0.69824	0.966	T	0.73642	-0.3918	10	0.72032	D	0.01	.	18.681	0.91546	0.0:0.0:1.0:0.0	.	351	Q9HB14	KCNKD_HUMAN	H	351	ENSP00000282146:D351H	ENSP00000282146:D351H	D	+	1	0	KCNK13	89720924	1.000000	0.71417	1.000000	0.80357	0.013000	0.08279	7.993000	0.88291	2.420000	0.82092	0.655000	0.94253	GAC		0.627	KCNK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411251.1	NM_022054		10	36	0	0	0	1	0	10	36				
GPM6A	2823	broad.mit.edu	37	4	176622894	176622894	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr4:176622894C>A	ENST00000280187.7	-	3	107	c.62G>T	c.(61-63)tGc>tTc	p.C21F	GPM6A_ENST00000506894.1_Missense_Mutation_p.C10F|GPM6A_ENST00000515090.1_Missense_Mutation_p.C14F|GPM6A_ENST00000393658.2_Missense_Mutation_p.C21F	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A	21					neural retina development (GO:0003407)|neuron migration (GO:0001764)|neuron projection morphogenesis (GO:0048812)|positive regulation of filopodium assembly (GO:0051491)|stem cell differentiation (GO:0048863)|synapse assembly (GO:0007416)	axonal growth cone (GO:0044295)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	calcium channel activity (GO:0005262)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		GCCCCCCAGGCATTTGATACA	0.433																																						ENST00000280187.7																			0				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33						c.(61-63)tGc>tTc		glycoprotein M6A							75.0	77.0	76.0					4																	176622894		2203	4300	6503	SO:0001583	missense	2823					cell surface|integral to membrane		g.chr4:176622894C>A		CCDS3824.1, CCDS54822.1, CCDS58936.1	4q34	2008-08-29				ENSG00000150625			4460	protein-coding gene	gene with protein product		601275		GPM6		8661015, 18574501	Standard	NM_005277		Approved		uc003iug.4	P51674		ENST00000280187.7:c.62G>T	4.37:g.176622894C>A	ENSP00000280187:p.Cys21Phe					GPM6A_ENST00000506894.1_Missense_Mutation_p.C10F|GPM6A_ENST00000515090.1_Missense_Mutation_p.C14F|GPM6A_ENST00000393658.2_Missense_Mutation_p.C21F	p.C21F	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)	3	107	-		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	21					B7Z642|E9PHI5|Q92602	Missense_Mutation	SNP	ENST00000280187.7	37	c.62G>T	CCDS3824.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.699362	0.88830	.	.	ENSG00000150625	ENST00000280187;ENST00000393658;ENST00000506894;ENST00000515090;ENST00000503397;ENST00000513365;ENST00000505304	D;D;D;D;D;D;D	0.99637	-6.29;-6.29;-6.29;-6.29;-6.29;-6.29;-6.29	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.99619	0.9861	M	0.79805	2.47	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.87578	0.998;0.998;0.998	D	0.98789	1.0735	10	0.48119	T	0.1	-0.5778	20.3011	0.98612	0.0:1.0:0.0:0.0	.	14;10;21	B7Z642;E9PHI5;P51674	.;.;GPM6A_HUMAN	F	21;21;10;14;13;21;14	ENSP00000280187:C21F;ENSP00000377268:C21F;ENSP00000421578:C10F;ENSP00000423984:C14F;ENSP00000422959:C13F;ENSP00000423122:C21F;ENSP00000425463:C14F	ENSP00000280187:C21F	C	-	2	0	GPM6A	176859888	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.487000	0.81328	2.804000	0.96469	0.650000	0.86243	TGC		0.433	GPM6A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362163.1			6	67	1	0	0.000157383	1	0.000164938	6	67				
PSAP	5660	broad.mit.edu	37	10	73591605	73591605	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr10:73591605C>T	ENST00000394936.3	-	3	394	c.247G>A	c.(247-249)Gag>Aag	p.E83K	PSAP_ENST00000394934.1_Missense_Mutation_p.E83K			P07602	SAP_HUMAN	prosaposin	83	Saposin B-type 1. {ECO:0000255|PROSITE- ProRule:PRU00415}.				blood coagulation (GO:0007596)|cellular response to organic substance (GO:0071310)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|glycosphingolipid metabolic process (GO:0006687)|lipid transport (GO:0006869)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catalytic activity (GO:0043085)|prostate gland growth (GO:0060736)|regulation of lipid metabolic process (GO:0019216)|regulation of MAPK cascade (GO:0043408)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|lipid binding (GO:0008289)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						CCGCTCACCTCAGTGGCATTG	0.512																																						ENST00000394936.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						c.(247-249)Gag>Aag		prosaposin							197.0	183.0	188.0					10																	73591605		2203	4300	6503	SO:0001583	missense	5660				glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation	extracellular space|Golgi apparatus|integral to membrane|lysosomal lumen	enzyme activator activity|lipid binding	g.chr10:73591605C>T	BC004275	CCDS7311.1	10q21-q22	2014-01-30	2008-07-31		ENSG00000197746	ENSG00000197746		"""Endogenous ligands"""	9498	protein-coding gene	gene with protein product	"""variant Gaucher disease and variant metachromatic leukodystrophy"""	176801	"""sphingolipid activator protein-1"""	SAP1, GLBA		2717620	Standard	NM_001042465		Approved		uc001jsm.3	P07602	OTTHUMG00000018429	ENST00000394936.3:c.247G>A	10.37:g.73591605C>T	ENSP00000378394:p.Glu83Lys					PSAP_ENST00000394934.1_Missense_Mutation_p.E83K	p.E83K			P07602	SAP_HUMAN			3	394	-			83			Saposin B-type 1.		P07292|P15793|P78538|P78541|P78546|P78547|P78558|Q53Y86|Q6IBQ6|Q92739|Q92740|Q92741|Q92742	Missense_Mutation	SNP	ENST00000394936.3	37	c.247G>A	CCDS7311.1	.	.	.	.	.	.	.	.	.	.	C	18.76	3.693702	0.68386	.	.	ENSG00000197746	ENST00000394936;ENST00000373120;ENST00000357471;ENST00000394934;ENST00000394929;ENST00000404083;ENST00000394940	D;D	0.86366	-2.11;-2.11	5.2	4.29	0.51040	Saposin-like (2);Saposin-like type B, 1 (1);Saposin B (2);	0.095385	0.64402	D	0.000001	D	0.92632	0.7659	M	0.80183	2.485	0.53005	D	0.999967	D	0.69078	0.997	D	0.65773	0.938	D	0.92806	0.6260	10	0.49607	T	0.09	1.0193	14.4233	0.67198	0.0:0.7207:0.2793:0.0	.	83	P07602	SAP_HUMAN	K	83;83;83;83;83;86;8	ENSP00000378394:E83K;ENSP00000378392:E83K	ENSP00000350063:E83K	E	-	1	0	PSAP	73261611	0.979000	0.34478	0.925000	0.36789	0.329000	0.28539	2.461000	0.45040	1.305000	0.44909	0.563000	0.77884	GAG		0.512	PSAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048553.1	NM_002778		14	108	0	0	0	1	0	14	108				
MAP3K2	10746	broad.mit.edu	37	2	128066276	128066276	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr2:128066276G>A	ENST00000409947.1	-	16	1801	c.1519C>T	c.(1519-1521)Cgg>Tgg	p.R507W	MAP3K2_ENST00000344908.5_Missense_Mutation_p.R507W			Q9Y2U5	M3K2_HUMAN	mitogen-activated protein kinase kinase kinase 2	507	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|activation of MAPK activity (GO:0000187)|cellular response to mechanical stimulus (GO:0071260)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0706)	Bosutinib(DB06616)	GTCTGAAGCCGTTTGCTGGCC	0.458																																						ENST00000409947.1																			0				central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2)	7						c.(1519-1521)Cgg>Tgg		mitogen-activated protein kinase kinase kinase 2							138.0	139.0	138.0					2																	128066276		1958	4160	6118	SO:0001583	missense	10746				activation of JUN kinase activity|cellular response to mechanical stimulus	nucleus	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein kinase binding	g.chr2:128066276G>A	AF111105	CCDS46404.1	2q21.1	2011-06-09			ENSG00000169967	ENSG00000169967		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6854	protein-coding gene	gene with protein product	"""MAP/ERK kinase kinase 2"""	609487		MEKK2		8621389, 10085062	Standard	NM_006609		Approved	MEKK2B	uc002toj.2	Q9Y2U5	OTTHUMG00000153397	ENST00000409947.1:c.1519C>T	2.37:g.128066276G>A	ENSP00000387246:p.Arg507Trp					MAP3K2_ENST00000344908.5_Missense_Mutation_p.R507W	p.R507W			Q9Y2U5	M3K2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0706)	16	1801	-	Colorectal(110;0.1)		507			Protein kinase.		B9EG87|Q53QL9|Q53S75|Q59GZ6|Q8NC32|Q9NYK3	Missense_Mutation	SNP	ENST00000409947.1	37	c.1519C>T	CCDS46404.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.661370	0.88154	.	.	ENSG00000169967	ENST00000409947;ENST00000344908	T;T	0.66099	-0.19;-0.19	5.64	2.74	0.32292	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	T	0.66446	0.2790	L	0.35593	1.075	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.65298	-0.6202	10	0.87932	D	0	.	9.3303	0.38018	0.0673:0.0:0.6737:0.259	.	507	Q9Y2U5	M3K2_HUMAN	W	507	ENSP00000387246:R507W;ENSP00000343463:R507W	ENSP00000343463:R507W	R	-	1	2	MAP3K2	127782746	1.000000	0.71417	0.772000	0.31596	0.995000	0.86356	7.855000	0.86950	0.270000	0.21984	0.561000	0.74099	CGG		0.458	MAP3K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331014.1	NM_006609		6	100	0	0	0	1	0	6	100				
LAMB1	3912	broad.mit.edu	37	7	107642158	107642158	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr7:107642158G>A	ENST00000222399.6	-	3	288	c.58C>T	c.(58-60)Cgc>Tgc	p.R20C	LAMB1_ENST00000393560.1_Missense_Mutation_p.R20C|U3_ENST00000458938.1_RNA|LAMB1_ENST00000393561.1_Missense_Mutation_p.R44C	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	20					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						TCCTGAGCGCGCACTCGGGCT	0.642																																						ENST00000393561.1																			0				NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						c.(130-132)Cgc>Tgc		laminin, beta 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						14.0	16.0	15.0					7																	107642158		2195	4292	6487	SO:0001583	missense	3912				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	g.chr7:107642158G>A	M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"""Laminins"""	6486	protein-coding gene	gene with protein product		150240	"""cutis laxa with marfanoid phenotype"""	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.58C>T	7.37:g.107642158G>A	ENSP00000222399:p.Arg20Cys					LAMB1_ENST00000222399.6_Missense_Mutation_p.R20C|LAMB1_ENST00000393560.1_Missense_Mutation_p.R20C	p.R44C			P07942	LAMB1_HUMAN			1	314	-			20			Laminin N-terminal.		Q14D91	Missense_Mutation	SNP	ENST00000222399.6	37	c.130C>T	CCDS5750.1	.	.	.	.	.	.	.	.	.	.	G	11.65	1.702851	0.30232	.	.	ENSG00000091136	ENST00000393561;ENST00000222399;ENST00000393560;ENST00000439976;ENST00000393559	T;T;T;T;T	0.64991	1.4;1.41;1.12;-0.13;-0.08	4.97	-4.2	0.03823	.	.	.	.	.	T	0.31918	0.0812	N	0.08118	0	0.09310	N	1	B;B;B;B	0.20671	0.047;0.0;0.0;0.001	B;B;B;B	0.09377	0.004;0.0;0.0;0.001	T	0.07809	-1.0753	9	0.37606	T	0.19	.	2.7408	0.05253	0.211:0.4348:0.1543:0.1999	.	106;20;20;44	C9J296;E7EPA6;P07942;G3XAI2	.;.;LAMB1_HUMAN;.	C	44;20;20;106;20	ENSP00000377191:R44C;ENSP00000222399:R20C;ENSP00000377190:R20C;ENSP00000412686:R106C;ENSP00000377189:R20C	ENSP00000222399:R20C	R	-	1	0	LAMB1	107429394	0.008000	0.16893	0.041000	0.18516	0.885000	0.51271	-0.257000	0.08745	-1.217000	0.02604	0.462000	0.41574	CGC		0.642	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291		3	21	0	0	0	1	0	3	21				
WRN	7486	broad.mit.edu	37	8	31030518	31030518	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr8:31030518C>T	ENST00000298139.5	+	35	4448	c.4199C>T	c.(4198-4200)tCt>tTt	p.S1400F	RP11-363L24.3_ENST00000521252.1_RNA|RP11-363L24.3_ENST00000523365.1_RNA	NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	1400					aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CAGACTTCATCTGCAGAGAGA	0.358			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome																												Ovarian(18;161 598 2706 14834 27543)	ENST00000298139.5			yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	"""Mis, N, F, S"""	Werner syndrome (RECQL2)			"""L, E, M, O"""		"""osteosarcoma, meningioma, others"""			0				central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60						c.(4198-4200)tCt>tTt	Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome, RecQ helicase-like							71.0	69.0	69.0					8																	31030518		2203	4300	6503	SO:0001583	missense	7486	Werner syndrome	Familial Cancer Database	WS, Adult Progeria	base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding	g.chr8:31030518C>T		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"""Werner syndrome"""			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.4199C>T	8.37:g.31030518C>T	ENSP00000298139:p.Ser1400Phe					RP11-363L24.3_ENST00000521252.1_RNA|RP11-363L24.3_ENST00000523365.1_RNA	p.S1400F	NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)	35	4448	+		Breast(100;0.195)	1400					A1KYY9	Missense_Mutation	SNP	ENST00000298139.5	37	c.4199C>T	CCDS6082.1	.	.	.	.	.	.	.	.	.	.	C	8.085	0.773294	0.16051	.	.	ENSG00000165392	ENST00000298139	T	0.48836	0.8	4.28	3.41	0.39046	.	0.933317	0.08970	N	0.867396	T	0.46889	0.1416	L	0.54323	1.7	0.09310	N	1	P;B	0.37955	0.612;0.214	B;B	0.41088	0.347;0.135	T	0.38972	-0.9636	10	0.49607	T	0.09	-2.8941	8.2172	0.31519	0.0:0.8925:0.0:0.1075	.	810;1400	Q59F09;Q14191	.;WRN_HUMAN	F	1400	ENSP00000298139:S1400F	ENSP00000298139:S1400F	S	+	2	0	WRN	31150060	0.001000	0.12720	0.090000	0.20809	0.358000	0.29455	0.980000	0.29513	1.402000	0.46780	0.591000	0.81541	TCT		0.358	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1			9	44	0	0	0	1	0	9	44				
MPP2	4355	broad.mit.edu	37	17	41958921	41958921	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr17:41958921G>A	ENST00000461854.1	-	8	875	c.790C>T	c.(790-792)Cga>Tga	p.R264*	MPP2_ENST00000520305.1_Nonsense_Mutation_p.R101*|MPP2_ENST00000377184.3_Nonsense_Mutation_p.R257*|MPP2_ENST00000536246.1_Nonsense_Mutation_p.R229*|MPP2_ENST00000473246.1_5'Flank|MPP2_ENST00000518766.1_Nonsense_Mutation_p.R285*|MPP2_ENST00000269095.4_Nonsense_Mutation_p.R240*|MPP2_ENST00000523501.1_Nonsense_Mutation_p.R229*			Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	264	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		AGGCTGTCTCGGGCCGGGTCA	0.582																																						ENST00000269095.4																			0				breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29						c.(718-720)Cga>Tga		membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)							56.0	52.0	53.0					17																	41958921		2203	4300	6503	SO:0001587	stop_gained	4355				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity	g.chr17:41958921G>A		CCDS11471.1, CCDS62206.1, CCDS62207.1, CCDS62208.1, CCDS62209.1, CCDS62210.1	17q12-q21	2008-07-18			ENSG00000108852	ENSG00000108852			7220	protein-coding gene	gene with protein product	"""MAGUK p55 subfamily member 2"", ""discs large, homolog 2"""	600723		DLG2		7590743	Standard	NM_001278370		Approved	DKFZp761D0712	uc002ieo.1	Q14168	OTTHUMG00000133840	ENST00000461854.1:c.790C>T	17.37:g.41958921G>A	ENSP00000428286:p.Arg264*					MPP2_ENST00000377184.3_Nonsense_Mutation_p.R257*|MPP2_ENST00000523501.1_Nonsense_Mutation_p.R229*|MPP2_ENST00000518766.1_Nonsense_Mutation_p.R285*|MPP2_ENST00000461854.1_Nonsense_Mutation_p.R264*|MPP2_ENST00000520305.1_Nonsense_Mutation_p.R101*|MPP2_ENST00000536246.1_Nonsense_Mutation_p.R229*	p.R240*	NM_001278370.1|NM_001278381.1|NM_005374.3	NP_001265299.1|NP_001265310.1|NP_005365.3	Q14168	MPP2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.12)	7	1022	-		Breast(137;0.00314)	264			PDZ.		B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Nonsense_Mutation	SNP	ENST00000461854.1	37	c.718C>T		.	.	.	.	.	.	.	.	.	.	g	21.6	4.169989	0.78452	.	.	ENSG00000108852	ENST00000377184;ENST00000269095;ENST00000461854;ENST00000520305;ENST00000523501;ENST00000536246;ENST00000518766	.	.	.	5.1	-0.605	0.11623	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	9.2493	0.37545	0.0739:0.0:0.279:0.6471	.	.	.	.	X	257;240;264;101;229;229;285	.	ENSP00000269095:R240X	R	-	1	2	MPP2	39314447	0.000000	0.05858	0.019000	0.16419	0.993000	0.82548	0.704000	0.25661	-0.187000	0.10516	0.555000	0.69702	CGA		0.582	MPP2-003	KNOWN	non_canonical_polymorphism|basic	protein_coding	protein_coding	OTTHUMT00000258388.2	NM_005374		5	41	0	0	0	1	0	5	41				
C17orf70	80233	broad.mit.edu	37	17	79514274	79514274	+	Missense_Mutation	SNP	C	C	T	rs35394179|rs569931342		TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr17:79514274C>T	ENST00000327787.8	-	5	1880	c.1834G>A	c.(1834-1836)Ggg>Agg	p.G612R	C17orf70_ENST00000425898.2_Missense_Mutation_p.G261R|C17orf70_ENST00000537152.1_Missense_Mutation_p.G461R			Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	612					DNA repair (GO:0006281)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			GCAAGGGCCCCGCCCACCACC	0.672													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16142	0.0		0.0	False		,,,				2504	0.0					ENST00000537152.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19						c.(1381-1383)Ggg>Agg		chromosome 17 open reading frame 70							43.0	47.0	45.0					17																	79514274		2203	4299	6502	SO:0001583	missense	80233				DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding	g.chr17:79514274C>T	BC008883	CCDS32765.1, CCDS32765.2	17q25.3	2012-05-30			ENSG00000185504	ENSG00000185504			26171	protein-coding gene	gene with protein product	"""Fanconi anemia-associated protein, 100kDa"""	611301				17396147	Standard	NM_025161		Approved	FLJ22175, FAAP100	uc002kaq.3	Q0VG06	OTTHUMG00000167764	ENST00000327787.8:c.1834G>A	17.37:g.79514274C>T	ENSP00000333283:p.Gly612Arg					C17orf70_ENST00000425898.2_Missense_Mutation_p.G261R|C17orf70_ENST00000327787.8_Missense_Mutation_p.G612R	p.G461R	NM_025161.5	NP_079437.5	Q0VG06	FP100_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)		5	1906	-	all_neural(118;0.0878)|Melanoma(429;0.242)		612					A6NNM1|Q8N3F7|Q9BV13|Q9H6K7|Q9H7E8	Missense_Mutation	SNP	ENST00000327787.8	37	c.1381G>A	CCDS32765.2	.	.	.	.	.	.	.	.	.	.	C	6.606	0.480224	0.12581	.	.	ENSG00000185504	ENST00000327787;ENST00000425898;ENST00000537152	T;T;T	0.28255	1.62;1.62;1.62	4.49	1.21	0.21127	.	1.039630	0.07597	N	0.922999	T	0.16981	0.0408	N	0.16478	0.41	0.09310	N	1	B;B	0.21688	0.049;0.059	B;B	0.14578	0.011;0.007	T	0.28933	-1.0028	10	0.24483	T	0.36	.	5.5297	0.16976	0.0:0.4933:0.0:0.5067	.	612;261	Q0VG06;E7EVV8	FP100_HUMAN;.	R	612;261;461	ENSP00000333283:G612R;ENSP00000399674:G261R;ENSP00000440151:G461R	ENSP00000333283:G612R	G	-	1	0	C17orf70	77124727	0.001000	0.12720	0.007000	0.13788	0.194000	0.23727	1.205000	0.32308	0.534000	0.28695	-0.291000	0.09656	GGG		0.672	C17orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396170.1	NM_025161		7	65	0	0	0	1	0	7	65				
SLC8A1	6546	broad.mit.edu	37	2	40656621	40656621	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr2:40656621C>A	ENST00000403092.1	-	2	833	c.800G>T	c.(799-801)cGa>cTa	p.R267L	SLC8A1_ENST00000332839.4_Missense_Mutation_p.R267L|SLC8A1_ENST00000406391.2_Missense_Mutation_p.R267L|SLC8A1_ENST00000542756.1_Missense_Mutation_p.R267L|SLC8A1_ENST00000405901.3_Missense_Mutation_p.R267L|SLC8A1_ENST00000405269.1_Missense_Mutation_p.R267L|SLC8A1_ENST00000402441.1_Missense_Mutation_p.R267L|SLC8A1_ENST00000542024.1_Missense_Mutation_p.R267L|SLC8A1_ENST00000406785.2_Missense_Mutation_p.R267L|SLC8A1_ENST00000408028.2_Missense_Mutation_p.R267L			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	267	Calmodulin-binding. {ECO:0000255}.				blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)	p.R267L(2)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CTTGCCAGCTCGATACCTCTT	0.433																																						ENST00000406785.1																			2	Substitution - Missense(2)	p.R267L(2)	ovary(1)|lung(1)	NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100						c.(799-801)cGa>cTa		solute carrier family 8 (sodium/calcium exchanger), member 1	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						152.0	151.0	151.0					2																	40656621		2203	4300	6503	SO:0001583	missense	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40656621C>A		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.800G>T	2.37:g.40656621C>A	ENSP00000384763:p.Arg267Leu					SLC8A1_ENST00000402441.1_Missense_Mutation_p.R267L|SLC8A1_ENST00000408028.2_Missense_Mutation_p.R267L|SLC8A1_ENST00000542024.1_Missense_Mutation_p.R267L|SLC8A1_ENST00000332839.4_Missense_Mutation_p.R267L|SLC8A1_ENST00000542756.1_Missense_Mutation_p.R267L|SLC8A1_ENST00000406391.2_Missense_Mutation_p.R267L|SLC8A1_ENST00000405269.1_Missense_Mutation_p.R267L|SLC8A1_ENST00000403092.1_Missense_Mutation_p.R267L|SLC8A1_ENST00000405901.3_Missense_Mutation_p.R267L	p.R267L			P32418	NAC1_HUMAN			2	989	-			267			Calmodulin-binding (Potential).		A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	ENST00000403092.1	37	c.800G>T	CCDS1806.1	.	.	.	.	.	.	.	.	.	.	C	16.57	3.160500	0.57368	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024	T;T;T;T;T;T;T;T;T;T	0.34472	1.39;1.43;1.43;1.43;1.39;1.39;1.43;1.36;1.39;1.39	5.96	5.09	0.68999	.	0.178064	0.51477	D	0.000100	T	0.63307	0.2500	M	0.85859	2.78	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.996;1.0;1.0;0.999	D;D;D;D;D	0.85130	0.996;0.995;0.996;0.997;0.991	T	0.69221	-0.5202	10	0.66056	D	0.02	.	12.9583	0.58442	0.0:0.9223:0.0:0.0777	.	267;267;267;267;267	P32418-4;P32418-2;P32418-3;F6VPY9;P32418	.;.;.;.;NAC1_HUMAN	L	267	ENSP00000383886:R267L;ENSP00000440727:R267L;ENSP00000384763:R267L;ENSP00000385678:R267L;ENSP00000385188:R267L;ENSP00000385535:R267L;ENSP00000332931:R267L;ENSP00000384908:R267L;ENSP00000385811:R267L;ENSP00000443515:R267L	ENSP00000332931:R267L	R	-	2	0	SLC8A1	40510125	1.000000	0.71417	1.000000	0.80357	0.649000	0.38597	7.663000	0.83820	1.540000	0.49301	0.655000	0.94253	CGA		0.433	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		100	123	1	0	7.62712e-44	1	8.39624e-44	100	123				
VAV1	7409	broad.mit.edu	37	19	6850734	6850734	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr19:6850734G>A	ENST00000602142.1	+	24	2265	c.2183G>A	c.(2182-2184)cGg>cAg	p.R728Q	VAV1_ENST00000596764.1_Missense_Mutation_p.R696Q|VAV1_ENST00000539284.1_Missense_Mutation_p.R631Q|VAV1_ENST00000304076.2_Missense_Mutation_p.R706Q|VAV1_ENST00000599806.1_Missense_Mutation_p.R673Q	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	728	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|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)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						GGACTGTACCGGATCACAGAG	0.552																																						ENST00000304076.2																			0				biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						c.(2116-2118)cGg>cAg		vav 1 guanine nucleotide exchange factor							108.0	100.0	103.0					19																	6850734		2203	4300	6503	SO:0001583	missense	7409				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:6850734G>A		CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12657	protein-coding gene	gene with protein product		164875	"""vav 1 oncogene"""	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.2183G>A	19.37:g.6850734G>A	ENSP00000472929:p.Arg728Gln					VAV1_ENST00000599806.1_Missense_Mutation_p.R673Q|VAV1_ENST00000539284.1_Missense_Mutation_p.R631Q|VAV1_ENST00000596764.1_Missense_Mutation_p.R696Q|VAV1_ENST00000602142.1_Missense_Mutation_p.R728Q	p.R706Q	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN			23	2211	+			728			SH2.		B4DVK9|M0QXX6|Q15860	Missense_Mutation	SNP	ENST00000602142.1	37	c.2117G>A	CCDS12174.1	.	.	.	.	.	.	.	.	.	.	G	19.70	3.876821	0.72180	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	D	0.88354	-2.37	3.92	3.92	0.45320	SH2 motif (4);	0.000000	0.64402	D	0.000001	D	0.90755	0.7098	L	0.41356	1.27	0.40987	D	0.984822	D;D;P;D	0.89917	0.996;1.0;0.878;0.971	D;D;P;P	0.85130	0.974;0.997;0.626;0.551	D	0.90918	0.4781	10	0.54805	T	0.06	.	11.6397	0.51224	0.0:0.0:1.0:0.0	.	631;728;673;728	F5H5P4;B2R8B5;Q96D37;P15498	.;.;.;VAV_HUMAN	Q	728;631	ENSP00000443242:R631Q	ENSP00000302269:R728Q	R	+	2	0	VAV1	6801734	1.000000	0.71417	0.997000	0.53966	0.958000	0.62258	4.384000	0.59607	2.190000	0.69967	0.561000	0.74099	CGG		0.552	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1			4	28	0	0	0	1	0	4	28				
ZFPM2	23414	broad.mit.edu	37	8	106814845	106814845	+	Silent	SNP	G	G	A			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr8:106814845G>A	ENST00000407775.2	+	8	2785	c.2535G>A	c.(2533-2535)acG>acA	p.T845T	RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000517361.1_Silent_p.T713T|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000520492.1_Silent_p.T713T|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000378472.4_Silent_p.T576T|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	845					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GGACGACCACGTCTCCCAAAA	0.478																																						ENST00000407775.2																			0				NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99						c.(2533-2535)acG>acA		zinc finger protein, FOG family member 2							46.0	41.0	43.0					8																	106814845		1943	4156	6099	SO:0001819	synonymous_variant	23414				blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	g.chr8:106814845G>A	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.2535G>A	8.37:g.106814845G>A						RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000378472.4_Silent_p.T576T|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000517361.1_Silent_p.T713T|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000520492.1_Silent_p.T713T	p.T845T	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		8	2785	+			845					Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Silent	SNP	ENST00000407775.2	37	c.2535G>A	CCDS47908.1																																																																																				0.478	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			9	12	0	0	0	1	0	9	12				
MUC3A	4584	broad.mit.edu	37	7	100549486	100549486	+	Silent	SNP	T	T	C			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr7:100549486T>C	ENST00000379458.4	+	2	67	c.67T>C	c.(67-69)Tta>Cta	p.L23L	MUC3A_ENST00000483366.1_3'UTR|MUC3A_ENST00000319509.7_5'Flank			Q02505	MUC3A_HUMAN	mucin 3A, cell surface associated	23					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|extracellular matrix structural constituent (GO:0005201)			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						TGCAGGAACTTTATCCACGGC	0.527																																						ENST00000379458.4																			0				breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						c.(67-69)Tta>Cta		mucin 3A, cell surface associated							155.0	145.0	148.0					7																	100549486		876	1991	2867	SO:0001819	synonymous_variant	4584							g.chr7:100549486T>C	AF113616		7q22.1	2012-04-20	2006-03-14		ENSG00000169894	ENSG00000169894		"""Mucins"""	7513	protein-coding gene	gene with protein product		158371	"""mucin 3A, intestinal"""	MUC3		2393399, 10973822	Standard	XM_006710192		Approved		uc003uxl.1	Q02505	OTTHUMG00000157038	ENST00000379458.4:c.67T>C	7.37:g.100549486T>C						MUC3A_ENST00000483366.1_3'UTR	p.23_23insL							2	67	+								O14650|O14651|O43418|O43421|Q02506|Q6W763|Q9H3Q7|Q9UKW9|Q9UN93|Q9UN94|Q9UN95	Missense_Mutation	SNP	ENST00000379458.4	37	c.67T>C																																																																																					0.527	MUC3A-201	NOVEL	basic|appris_principal	protein_coding	protein_coding		XM_001725354		35	76	0	0	0	1	0	35	76				
SLC35F1	222553	broad.mit.edu	37	6	118475631	118475631	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr6:118475631T>A	ENST00000360388.4	+	2	398	c.197T>A	c.(196-198)cTa>cAa	p.L66Q		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	66					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		TCTGTGGCCCTAGGCCAGGTG	0.418																																						ENST00000360388.4																			0				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(196-198)cTa>cAa		solute carrier family 35, member F1							171.0	163.0	166.0					6																	118475631		2203	4300	6503	SO:0001583	missense	222553				transport	integral to membrane		g.chr6:118475631T>A	BC028615	CCDS34524.1	6q22.31	2013-05-22			ENSG00000196376	ENSG00000196376		"""Solute carriers"""	21483	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 169"""	C6orf169			Standard	NM_001029858		Approved	dJ230I3.1	uc003pxx.4	Q5T1Q4	OTTHUMG00000015460	ENST00000360388.4:c.197T>A	6.37:g.118475631T>A	ENSP00000353557:p.Leu66Gln						p.L66Q	NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN		GBM - Glioblastoma multiforme(226;0.217)	2	398	+			66					E1P564|Q1RMG1|Q4G0U9|Q4G167|Q6N007	Missense_Mutation	SNP	ENST00000360388.4	37	c.197T>A	CCDS34524.1	.	.	.	.	.	.	.	.	.	.	T	26.1	4.700034	0.88924	.	.	ENSG00000196376	ENST00000360388	.	.	.	6.02	6.02	0.97574	.	0.000000	0.64402	D	0.000002	T	0.77731	0.4174	M	0.83483	2.645	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.81406	-0.0947	9	0.72032	D	0.01	.	16.5446	0.84426	0.0:0.0:0.0:1.0	.	66	Q5T1Q4	S35F1_HUMAN	Q	66	.	ENSP00000353557:L66Q	L	+	2	0	SLC35F1	118582324	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.967000	0.76079	2.311000	0.77944	0.533000	0.62120	CTA		0.418	SLC35F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041991.2	XM_167044		6	77	0	0	0	1	0	6	77				
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs561841139		TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2									p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328																																						ENST00000564580.1																			25	Substitution - Missense(25)	p.W375R(25)	endometrium(19)|kidney(4)|prostate(2)																																																653390							g.chr16:29110458T>C			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110458T>C														0	1131	+									RNA	SNP	ENST00000564580.1	37			.	.	.	.	.	.	.	.	.	.	N	5.632	0.301362	0.10678	.	.	ENSG00000103472	ENST00000427965	.	.	.	1.93	1.93	0.25924	.	0.000000	0.64402	N	0.000001	T	0.11239	0.0274	.	.	.	.	.	.	.	.	.	.	.	.	T	0.29701	-1.0003	5	0.02654	T	1	.	2.7527	0.05285	0.2724:0.5536:0.0:0.174	.	.	.	.	R	375	.	ENSP00000398611:W375R	W	+	1	0	AC009093.1	29017959	1.000000	0.71417	0.564000	0.28396	0.423000	0.31445	3.439000	0.52878	0.163000	0.19507	-1.160000	0.01791	TGG		0.328	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	NR_003369		4	29	0	0	0	1	0	4	29				
C14orf119	55017	broad.mit.edu	37	14	23567243	23567243	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr14:23567243G>A	ENST00000319074.4	+	2	1232	c.376G>A	c.(376-378)Gtg>Atg	p.V126M	ACIN1_ENST00000605057.1_5'Flank|ACIN1_ENST00000262710.1_5'Flank|ACIN1_ENST00000457657.1_5'Flank|ACIN1_ENST00000555053.1_5'Flank|C14orf119_ENST00000554203.1_Missense_Mutation_p.V126M	NM_017924.3	NP_060394.1	Q9NWQ9	CN119_HUMAN	chromosome 14 open reading frame 119	126						mitochondrion (GO:0005739)				central_nervous_system(1)|endometrium(1)|lung(1)	3	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00649)		GCCAGACTTCGTGGCAAAGTT	0.498																																						ENST00000319074.4																			0				central_nervous_system(1)|endometrium(1)|lung(1)	3						c.(376-378)Gtg>Atg		chromosome 14 open reading frame 119							87.0	88.0	88.0					14																	23567243		2203	4300	6503	SO:0001583	missense	55017							g.chr14:23567243G>A		CCDS9588.1	14q11.2	2012-09-25			ENSG00000179933	ENSG00000179933			20270	protein-coding gene	gene with protein product							Standard	NM_017924		Approved	FLJ20671	uc001wiu.3	Q9NWQ9	OTTHUMG00000028717	ENST00000319074.4:c.376G>A	14.37:g.23567243G>A	ENSP00000322238:p.Val126Met					C14orf119_ENST00000554203.1_Missense_Mutation_p.V126M	p.V126M	NM_017924.3	NP_060394.1	Q9NWQ9	CN119_HUMAN		GBM - Glioblastoma multiforme(265;0.00649)	2	1232	+	all_cancers(95;4.6e-05)		126					Q6IAA7	Missense_Mutation	SNP	ENST00000319074.4	37	c.376G>A	CCDS9588.1	.	.	.	.	.	.	.	.	.	.	G	19.47	3.833075	0.71258	.	.	ENSG00000179933	ENST00000319074;ENST00000554203	T;T	0.53640	0.61;0.61	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	T	0.61825	0.2378	L	0.38175	1.15	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.59553	-0.7433	10	0.52906	T	0.07	-1.4093	19.2492	0.93917	0.0:0.0:1.0:0.0	.	126	Q9NWQ9	CN119_HUMAN	M	126	ENSP00000322238:V126M;ENSP00000450861:V126M	ENSP00000322238:V126M	V	+	1	0	C14orf119	22637083	1.000000	0.71417	0.995000	0.50966	0.981000	0.71138	6.749000	0.74883	2.840000	0.97914	0.655000	0.94253	GTG		0.498	C14orf119-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071713.3	NM_017924		8	72	0	0	0	1	0	8	72				
ZNF536	9745	broad.mit.edu	37	19	30935708	30935708	+	Silent	SNP	G	G	A			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr19:30935708G>A	ENST00000355537.3	+	2	1386	c.1239G>A	c.(1237-1239)gtG>gtA	p.V413V		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	413					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AGGTGCCTGTGCCCATGGGCG	0.622																																						ENST00000355537.3																			0				NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182						c.(1237-1239)gtG>gtA		zinc finger protein 536							42.0	43.0	43.0					19																	30935708		2203	4300	6503	SO:0001819	synonymous_variant	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30935708G>A		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.1239G>A	19.37:g.30935708G>A							p.V413V	NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN			2	1386	+	Esophageal squamous(110;0.0834)		413					A2RU18	Silent	SNP	ENST00000355537.3	37	c.1239G>A	CCDS32984.1																																																																																				0.622	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		7	37	0	0	0	1	0	7	37				
ATP4A	495	broad.mit.edu	37	19	36041995	36041995	+	Silent	SNP	G	G	A	rs374197390		TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr19:36041995G>A	ENST00000262623.3	-	20	2932	c.2904C>T	c.(2902-2904)atC>atT	p.I968I		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	968					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	ACACGATGGCGATCACCAGGA	0.552																																						ENST00000262623.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53						c.(2902-2904)atC>atT		ATPase, H+/K+ exchanging, alpha polypeptide	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	G		1,4405	2.1+/-5.4	0,1,2202	56.0	44.0	48.0		2904	-9.8	0.2	19		48	0,8600		0,0,4300	no	coding-synonymous	ATP4A	NM_000704.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		968/1036	36041995	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	495				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	g.chr19:36041995G>A		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"""ATPases / P-type"""	819	protein-coding gene	gene with protein product	"""gastric H,K-ATPase alpha subunit"", ""H(+)-K(+)-ATPase alpha subunit"", ""proton pump"""	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.2904C>T	19.37:g.36041995G>A							p.I968I	NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		20	2932	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		968					O00738	Silent	SNP	ENST00000262623.3	37	c.2904C>T	CCDS12467.1																																																																																				0.552	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704		9	7	0	0	0	1	0	9	7				
SEC23IP	11196	broad.mit.edu	37	10	121662313	121662313	+	Silent	SNP	T	T	G			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr10:121662313T>G	ENST00000369075.3	+	3	771	c.699T>G	c.(697-699)gtT>gtG	p.V233V	SEC23IP_ENST00000543134.1_Silent_p.V22V	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	233	Interaction with SEC23A.|Pro-rich.				acrosome assembly (GO:0001675)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|single fertilization (GO:0007338)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear endoplasmic reticulum (GO:0097038)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		CCCTCCAGGTTCCTTCTTCAG	0.468																																						ENST00000369075.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36						c.(697-699)gtT>gtG		SEC23 interacting protein							97.0	93.0	94.0					10																	121662313		2203	4300	6503	SO:0001819	synonymous_variant	11196				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding	g.chr10:121662313T>G	AB019435	CCDS7618.1	10q26.11-q26.12	2013-01-10			ENSG00000107651	ENSG00000107651		"""Sterile alpha motif (SAM) domain containing"""	17018	protein-coding gene	gene with protein product						10400679	Standard	NM_007190		Approved	p125	uc001leu.2	Q9Y6Y8	OTTHUMG00000019161	ENST00000369075.3:c.699T>G	10.37:g.121662313T>G						SEC23IP_ENST00000543134.1_Silent_p.V22V	p.V233V	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN		all cancers(201;0.00515)	3	771	+		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)	233			Interaction with SEC23A.|Pro-rich.		D3DRD2|Q8IXH5|Q9BUK5	Silent	SNP	ENST00000369075.3	37	c.699T>G	CCDS7618.1																																																																																				0.468	SEC23IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050688.1			19	52	0	0	0	1	0	19	52				
CHD7	55636	broad.mit.edu	37	8	61778373	61778373	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr8:61778373G>A	ENST00000423902.2	+	38	9354	c.8875G>A	c.(8875-8877)Gag>Aag	p.E2959K	CHD7_ENST00000524602.1_Missense_Mutation_p.E910K	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2959					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CAGCGATGCCGAGGAGAGCCT	0.522																																						ENST00000423902.2																			0				NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123						c.(8875-8877)Gag>Aag		chromodomain helicase DNA binding protein 7							31.0	32.0	32.0					8																	61778373		1944	4145	6089	SO:0001583	missense	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61778373G>A	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.8875G>A	8.37:g.61778373G>A	ENSP00000392028:p.Glu2959Lys					CHD7_ENST00000524602.1_Missense_Mutation_p.E910K	p.E2959K	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		38	9354	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	2959					D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	c.8875G>A	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.108229	0.77096	.	.	ENSG00000171316	ENST00000307121;ENST00000423902;ENST00000524602	D;T	0.83163	-1.69;1.86	4.47	4.47	0.54385	.	0.000000	0.45867	D	0.000324	D	0.87517	0.6197	L	0.48642	1.525	0.58432	D	0.999997	D	0.63046	0.992	P	0.62649	0.905	D	0.89171	0.3537	10	0.72032	D	0.01	-20.2168	17.4855	0.87687	0.0:0.0:1.0:0.0	.	2959	Q9P2D1	CHD7_HUMAN	K	2959;2959;910	ENSP00000392028:E2959K;ENSP00000437061:E910K	ENSP00000307304:E2959K	E	+	1	0	CHD7	61940927	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.346000	0.79347	2.169000	0.68431	0.655000	0.94253	GAG		0.522	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		6	32	0	0	0	1	0	6	32				
EIF2A	83939	broad.mit.edu	37	3	150285973	150285973	+	Silent	SNP	G	G	A			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr3:150285973G>A	ENST00000460851.1	+	9	814	c.705G>A	c.(703-705)gtG>gtA	p.V235V	EIF2A_ENST00000273435.5_Silent_p.V230V|EIF2A_ENST00000406576.3_Silent_p.V174V|SERP1_ENST00000490945.1_Intron|EIF2A_ENST00000383043.3_Silent_p.V21V|EIF2A_ENST00000487799.1_Silent_p.V210V|SERP1_ENST00000479209.1_Intron			Q9BY44	EIF2A_HUMAN	eukaryotic translation initiation factor 2A, 65kDa	235					positive regulation of signal transduction (GO:0009967)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)|ribosome assembly (GO:0042255)|SREBP signaling pathway (GO:0032933)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|eukaryotic translation initiation factor 2 complex (GO:0005850)|extracellular space (GO:0005615)	ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)|tRNA binding (GO:0000049)			cervix(1)|endometrium(2)|kidney(1)|lung(3)	7		Melanoma(1037;0.0575)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CTACTGCTGTGTTGGTAATAG	0.353																																						ENST00000460851.1																			0				cervix(1)|endometrium(2)|kidney(1)|lung(3)	7						c.(703-705)gtG>gtA		eukaryotic translation initiation factor 2A, 65kDa							87.0	83.0	84.0					3																	150285973		1865	4103	5968	SO:0001819	synonymous_variant	83939				regulation of translation|ribosome assembly	eukaryotic translation initiation factor 2 complex	ribosome binding|translation initiation factor activity|tRNA binding	g.chr3:150285973G>A	AF212241	CCDS46935.1	3q25.1	2011-01-19	2006-01-24		ENSG00000144895	ENSG00000144895			3254	protein-coding gene	gene with protein product		609234				12133843, 1620067	Standard	NM_032025		Approved	EIF-2A	uc003eya.3	Q9BY44	OTTHUMG00000159775	ENST00000460851.1:c.705G>A	3.37:g.150285973G>A						SERP1_ENST00000490945.1_Intron|EIF2A_ENST00000487799.1_Silent_p.V210V|EIF2A_ENST00000406576.3_Silent_p.V174V|SERP1_ENST00000479209.1_Intron|EIF2A_ENST00000383043.3_Silent_p.V21V|EIF2A_ENST00000273435.5_Silent_p.V230V	p.V235V			Q9BY44	EIF2A_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)		9	814	+		Melanoma(1037;0.0575)	235					A8MPS6|B4DF96|B4DQ14|D3DNI9|Q5QTR2|Q7Z4E9|Q8NFM1|Q96EW9|Q96K81	Silent	SNP	ENST00000460851.1	37	c.705G>A	CCDS46935.1	.	.	.	.	.	.	.	.	.	.	G	9.703	1.154978	0.21371	.	.	ENSG00000144895	ENST00000465535	.	.	.	5.8	2.97	0.34412	.	.	.	.	.	T	0.61324	0.2338	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55483	-0.8134	4	.	.	.	-15.6673	10.9316	0.47222	0.0672:0.2637:0.6691:0.0	.	.	.	.	Y	9	.	.	C	+	2	0	EIF2A	151768663	1.000000	0.71417	0.980000	0.43619	0.994000	0.84299	1.082000	0.30803	0.322000	0.23283	0.563000	0.77884	TGT		0.353	EIF2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000357259.2	NM_032025		9	36	0	0	0	1	0	9	36				
VPS33A	65082	broad.mit.edu	37	12	122729266	122729266	+	Silent	SNP	C	C	T			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr12:122729266C>T	ENST00000267199.4	-	7	931	c.819G>A	c.(817-819)caG>caA	p.Q273Q	RP11-512M8.5_ENST00000535844.1_Silent_p.Q234Q	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33 homolog A (S. cerevisiae)	273					lysosome localization (GO:0032418)|melanosome localization (GO:0032400)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of developmental pigmentation (GO:0048070)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		CACCATCGCCCTGTTTCTTAG	0.488																																						ENST00000267199.4																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28						c.(817-819)caG>caA		vacuolar protein sorting 33 homolog A (S. cerevisiae)							111.0	103.0	106.0					12																	122729266		2203	4300	6503	SO:0001819	synonymous_variant	65082				lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding	g.chr12:122729266C>T	AK026048	CCDS9231.1	12q24.31	2008-06-23	2006-04-04		ENSG00000139719	ENSG00000139719			18179	protein-coding gene	gene with protein product		610034	"""vacuolar protein sorting 33A (yeast)"""			11250079	Standard	NM_022916		Approved		uc001ucd.3	Q96AX1	OTTHUMG00000168920	ENST00000267199.4:c.819G>A	12.37:g.122729266C>T						RP11-512M8.5_ENST00000535844.1_Silent_p.Q234Q	p.Q273Q	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)	7	931	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		273					Q547V4|Q9H5Q0	Silent	SNP	ENST00000267199.4	37	c.819G>A	CCDS9231.1																																																																																				0.488	VPS33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401607.2			12	67	0	0	0	1	0	12	67				
ADPRHL1	113622	broad.mit.edu	37	13	114079468	114079468	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr13:114079468C>G	ENST00000375418.3	-	5	759	c.673G>C	c.(673-675)Gaa>Caa	p.E225Q	ADPRHL1_ENST00000356501.4_Missense_Mutation_p.E143Q	NM_138430.3	NP_612439.2	Q8NDY3	ARHL1_HUMAN	ADP-ribosylhydrolase like 1	225					protein de-ADP-ribosylation (GO:0051725)		ADP-ribosylarginine hydrolase activity (GO:0003875)|magnesium ion binding (GO:0000287)			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	11	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)			CATTTAGCTTCAAAGTAAAAC	0.443																																						ENST00000356501.4																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	11						c.(427-429)Gaa>Caa		ADP-ribosylhydrolase like 1							120.0	117.0	118.0					13																	114079468		2202	4297	6499	SO:0001583	missense	113622				protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding	g.chr13:114079468C>G	AJ313429	CCDS9535.1, CCDS9536.1	13q34	2003-06-19			ENSG00000153531	ENSG00000153531			21303	protein-coding gene	gene with protein product		610620				12070318	Standard	NM_138430		Approved	ARH2	uc001vtq.1	Q8NDY3	OTTHUMG00000017386	ENST00000375418.3:c.673G>C	13.37:g.114079468C>G	ENSP00000364567:p.Glu225Gln					ADPRHL1_ENST00000375418.3_Missense_Mutation_p.E225Q	p.E143Q	NM_199162.1	NP_954631.1	Q8NDY3	ARHL1_HUMAN	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)		5	602	-	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	225					Q5JUG2|Q96GD1	Missense_Mutation	SNP	ENST00000375418.3	37	c.427G>C	CCDS9535.1	.	.	.	.	.	.	.	.	.	.	c	18.06	3.539328	0.65085	.	.	ENSG00000153531	ENST00000356501;ENST00000375418;ENST00000413169	T;T;T	0.32023	1.47;1.47;1.47	5.4	5.4	0.78164	.	0.054393	0.64402	D	0.000001	T	0.45677	0.1354	L	0.38838	1.175	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	T	0.13176	-1.0519	10	0.15066	T	0.55	-25.3975	19.2104	0.93751	0.0:1.0:0.0:0.0	.	225	Q8NDY3	ARHL1_HUMAN	Q	143;225;143	ENSP00000348894:E143Q;ENSP00000364567:E225Q;ENSP00000416213:E143Q	ENSP00000348894:E143Q	E	-	1	0	ADPRHL1	113127469	1.000000	0.71417	0.994000	0.49952	0.808000	0.45660	6.914000	0.75764	2.552000	0.86080	0.550000	0.68814	GAA		0.443	ADPRHL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045915.2	NM_138430		5	67	0	0	0	1	0	5	67				
ZNF780A	284323	broad.mit.edu	37	19	40580445	40580445	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr19:40580445T>A	ENST00000595687.2	-	6	2113	c.1904A>T	c.(1903-1905)cAc>cTc	p.H635L	ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000450241.2_Missense_Mutation_p.H601L|ZNF780A_ENST00000340963.5_Missense_Mutation_p.H635L|ZNF780A_ENST00000594395.1_Missense_Mutation_p.H636L|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000455521.1_Missense_Mutation_p.H636L	NM_001010880.2	NP_001010880.2	O75290	Z780A_HUMAN	zinc finger protein 780A	635					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CTCACCTGTGTGAATGTTCTT	0.413																																						ENST00000450241.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31						c.(1801-1803)cAc>cTc		zinc finger protein 780A							144.0	139.0	141.0					19																	40580445		2203	4300	6503	SO:0001583	missense	284323				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40580445T>A	AK091274	CCDS33026.2, CCDS46078.1, CCDS46079.1	19q13.2	2014-02-12	2006-08-15		ENSG00000197782	ENSG00000197782		"""Zinc fingers, C2H2-type"", ""-"""	27603	protein-coding gene	gene with protein product							Standard	NM_001142577		Approved	ZNF780	uc010xvh.2	O75290	OTTHUMG00000155119	ENST00000595687.2:c.1904A>T	19.37:g.40580445T>A	ENSP00000472189:p.His635Leu					ZNF780A_ENST00000594395.1_Missense_Mutation_p.H636L|ZNF780A_ENST00000455521.1_Missense_Mutation_p.H636L|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000595687.2_Missense_Mutation_p.H635L|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000340963.5_Missense_Mutation_p.H635L	p.H601L			O75290	Z780A_HUMAN			6	2113	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		635					E9PB48|Q6ZN87	Missense_Mutation	SNP	ENST00000595687.2	37	c.1802A>T	CCDS33026.2	.	.	.	.	.	.	.	.	.	.	t	16.65	3.181199	0.57800	.	.	ENSG00000197782	ENST00000450241;ENST00000455521;ENST00000340963	D;D	0.88975	-2.45;-2.45	1.62	1.62	0.23740	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93106	0.7805	H	0.96333	3.805	0.37216	D	0.905048	D;P	0.54207	0.965;0.909	P;P	0.51170	0.661;0.613	D	0.92872	0.6315	9	0.87932	D	0	.	6.8805	0.24170	0.0:0.0:0.0:1.0	.	636;635	E9PB48;O75290	.;Z780A_HUMAN	L	635;636;635	ENSP00000400997:H636L;ENSP00000341507:H635L	ENSP00000341507:H635L	H	-	2	0	ZNF780A	45272285	1.000000	0.71417	0.020000	0.16555	0.101000	0.19017	6.150000	0.71801	0.708000	0.31955	0.260000	0.18958	CAC		0.413	ZNF780A-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000470066.1	NM_001010880		13	64	0	0	0	1	0	13	64				
PCLO	27445	broad.mit.edu	37	7	82544994	82544994	+	Missense_Mutation	SNP	C	C	G	rs371168503		TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr7:82544994C>G	ENST00000333891.9	-	7	12645	c.12308G>C	c.(12307-12309)aGa>aCa	p.R4103T	PCLO_ENST00000423517.2_Missense_Mutation_p.R4103T|PCLO_ENST00000437081.1_Missense_Mutation_p.R823T	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ACTATGCAATCTAGAGGAAGA	0.448																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(12307-12309)aGa>aCa		piccolo presynaptic cytomatrix protein							58.0	53.0	55.0					7																	82544994		1884	4096	5980	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82544994C>G	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.12308G>C	7.37:g.82544994C>G	ENSP00000334319:p.Arg4103Thr					PCLO_ENST00000437081.1_Missense_Mutation_p.R823T|PCLO_ENST00000333891.8_Missense_Mutation_p.R4103T	p.R4103T	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			7	12645	-			4034						Missense_Mutation	SNP	ENST00000333891.9	37	c.12308G>C	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	16.17	3.047832	0.55110	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.18174	2.23;2.23	5.84	5.84	0.93424	.	.	.	.	.	T	0.45438	0.1342	M	0.69823	2.125	0.50039	D	0.999847	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.991;0.999;0.999	T	0.30995	-0.9959	9	0.87932	D	0	.	20.1346	0.98019	0.0:1.0:0.0:0.0	.	4034;4103;4103	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	T	4103;4103;823	ENSP00000334319:R4103T;ENSP00000388393:R4103T	ENSP00000334319:R4103T	R	-	2	0	PCLO	82382930	1.000000	0.71417	0.995000	0.50966	0.909000	0.53808	7.505000	0.81655	2.763000	0.94921	0.557000	0.71058	AGA		0.448	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		3	31	0	0	0	1	0	3	31				
SPATA31D5P	347127	broad.mit.edu	37	9	84530548	84530548	+	RNA	SNP	G	G	A			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr9:84530548G>A	ENST00000527857.1	+	0	570					NR_026851.1				SPATA31 subfamily D, member 5, pseudogene																		AACCACTCCAGAAGACCTAAT	0.512																																						ENST00000527857.1																			0																																																			347127							g.chr9:84530548G>A			9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000240632	ENSG00000240632			38602	pseudogene	pseudogene			"""family with sequence similarity 75, member D5"", ""family with sequence similarity 75, member D5, pseudogene"""	FAM75D5			Standard	NR_026851		Approved	FLJ43950, FAM75D5P	uc011lst.2		OTTHUMG00000020087		9.37:g.84530548G>A								NR_026851.1						0	570	+									RNA	SNP	ENST00000527857.1	37																																																																																						0.512	SPATA31D5P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000052810.2	NR_026851		4	33	0	0	0	1	0	4	33				
ACOX2	8309	broad.mit.edu	37	3	58508313	58508313	+	Silent	SNP	T	T	C			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr3:58508313T>C	ENST00000302819.5	-	12	1833	c.1542A>G	c.(1540-1542)tcA>tcG	p.S514S	ACOX2_ENST00000459701.2_Silent_p.S500S|ACOX2_ENST00000481527.1_5'UTR	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	514					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity (GO:0033791)|acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		AATGCTGCACTGAGTCCTTTA	0.522																																						ENST00000302819.5																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25						c.(1540-1542)tcA>tcG		acyl-CoA oxidase 2, branched chain							121.0	105.0	111.0					3																	58508313		2203	4300	6503	SO:0001819	synonymous_variant	8309				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity	g.chr3:58508313T>C	X95190	CCDS33775.1	3p14.3	2012-07-13	2010-04-30		ENSG00000168306	ENSG00000168306	1.17.99.3		120	protein-coding gene	gene with protein product	"""trihydroxycoprostanoyl-CoA oxidase"", ""3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanoyl-CoA 24-hydroxylase"""	601641	"""acyl-Coenzyme A oxidase 2, branched chain"""			8943006, 9070889	Standard	NM_003500		Approved	BRCACOX, BRCOX, THCCox	uc003dkl.3	Q99424	OTTHUMG00000159154	ENST00000302819.5:c.1542A>G	3.37:g.58508313T>C						ACOX2_ENST00000481527.1_5'UTR|ACOX2_ENST00000459701.2_Silent_p.S500S	p.S514S	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)	12	1833	-			514					A6NF16|B2R8U5	Silent	SNP	ENST00000302819.5	37	c.1542A>G	CCDS33775.1																																																																																				0.522	ACOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353541.1			8	33	0	0	0	1	0	8	33				
TRIP12	9320	broad.mit.edu	37	2	230725191	230725191	+	Intron	SNP	G	G	C			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr2:230725191G>C	ENST00000283943.5	-	3	277				TRIP12_ENST00000543084.1_Missense_Mutation_p.S52C|TRIP12_ENST00000389044.4_Missense_Mutation_p.S52C|TRIP12_ENST00000409677.1_Missense_Mutation_p.S52C|TRIP12_ENST00000389045.3_Intron	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12						cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		CTTAGAATTAGATTTTCTACT	0.383																																						ENST00000389044.4																			0				breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(154-156)tCt>tGt		thyroid hormone receptor interactor 12							125.0	126.0	126.0					2																	230725191		876	1991	2867	SO:0001627	intron_variant	9320				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	g.chr2:230725191G>C	L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.99-901C>G	2.37:g.230725191G>C						TRIP12_ENST00000409677.1_Missense_Mutation_p.S52C|TRIP12_ENST00000283943.5_Intron|TRIP12_ENST00000389045.3_Intron|TRIP12_ENST00000543084.1_Missense_Mutation_p.S52C	p.S52C			Q14669	TRIPC_HUMAN		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	3	323	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	34					D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Missense_Mutation	SNP	ENST00000283943.5	37	c.155C>G	CCDS33391.1	.	.	.	.	.	.	.	.	.	.	G	19.54	3.845926	0.71603	.	.	ENSG00000153827	ENST00000389044;ENST00000543084;ENST00000409677;ENST00000430954	T	0.50548	0.74	5.89	5.89	0.94794	.	0.225652	0.28946	U	0.013631	T	0.50514	0.1620	.	.	.	0.28958	N	0.890004	P	0.51653	0.947	B	0.43916	0.436	T	0.53472	-0.8434	9	0.59425	D	0.04	.	20.2561	0.98419	0.0:0.0:1.0:0.0	.	52	Q14CA3	.	C	52	ENSP00000373696:S52C	ENSP00000373696:S52C	S	-	2	0	TRIP12	230433435	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.517000	0.81783	2.797000	0.96272	0.563000	0.77884	TCT		0.383	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238		15	69	0	0	0	1	0	15	69				
NXPH3	11248	broad.mit.edu	37	17	47656174	47656174	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr17:47656174C>T	ENST00000328741.5	+	2	633	c.271C>T	c.(271-273)Cca>Tca	p.P91S	RP5-1029K10.4_ENST00000503624.1_RNA|NXPH3_ENST00000513748.1_Missense_Mutation_p.P91S	NM_007225.2	NP_009156.2	O95157	NXPH3_HUMAN	neurexophilin 3	91	III.				neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				endometrium(2)|large_intestine(3)|lung(4)|pancreas(1)|skin(2)	12	all_cancers(4;7.45e-14)|Breast(4;1.08e-27)|all_epithelial(4;2.27e-17)					CCACAGCCCCCCACCCTCAGC	0.627																																						ENST00000328741.5																			0				endometrium(2)|large_intestine(3)|lung(4)|pancreas(1)|skin(2)	12						c.(271-273)Cca>Tca		neurexophilin 3							29.0	34.0	32.0					17																	47656174		2203	4300	6503	SO:0001583	missense	11248				neuropeptide signaling pathway	extracellular region		g.chr17:47656174C>T	AF043468	CCDS11550.1	17q	2008-07-03				ENSG00000182575			8077	protein-coding gene	gene with protein product		604636				9570794	Standard	NM_007225		Approved	NPH3	uc002ipa.3	O95157		ENST00000328741.5:c.271C>T	17.37:g.47656174C>T	ENSP00000329295:p.Pro91Ser					NXPH3_ENST00000513748.1_Missense_Mutation_p.P91S	p.P91S	NM_007225.2	NP_009156.2	O95157	NXPH3_HUMAN			2	633	+	all_cancers(4;7.45e-14)|Breast(4;1.08e-27)|all_epithelial(4;2.27e-17)		91			III.		Q8NDC3|Q8TBF6|Q9ULR1	Missense_Mutation	SNP	ENST00000328741.5	37	c.271C>T	CCDS11550.1	.	.	.	.	.	.	.	.	.	.	c	3.821	-0.037654	0.07497	.	.	ENSG00000182575	ENST00000328741;ENST00000513748	.	.	.	4.76	-1.55	0.08558	.	0.649850	0.15176	N	0.276398	T	0.12944	0.0314	N	0.08118	0	0.09310	N	1	B;B	0.12013	0.005;0.0	B;B	0.12837	0.008;0.001	T	0.22382	-1.0218	9	0.16896	T	0.51	-15.214	3.1917	0.06619	0.1157:0.5168:0.1138:0.2537	.	91;91	D6RGW2;O95157	.;NXPH3_HUMAN	S	91	.	ENSP00000329295:P91S	P	+	1	0	NXPH3	45011173	0.001000	0.12720	0.045000	0.18777	0.334000	0.28698	0.396000	0.20867	0.122000	0.18314	-0.376000	0.06991	CCA		0.627	NXPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365143.1			9	35	0	0	0	1	0	9	35				
RBBP7	5931	broad.mit.edu	37	X	16871871	16871871	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chrX:16871871T>A	ENST00000380087.2	-	6	1052	c.692A>T	c.(691-693)gAt>gTt	p.D231V	RBBP7_ENST00000380084.4_Missense_Mutation_p.D275V|RBBP7_ENST00000404022.1_Missense_Mutation_p.D222V			Q16576	RBBP7_HUMAN	retinoblastoma binding protein 7	231					cell proliferation (GO:0008283)|cellular heat acclimation (GO:0070370)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of cell growth (GO:0030308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleosome assembly (GO:0006334)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	RNA binding (GO:0003723)			biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	25	Hepatocellular(33;0.0997)					CCAGGCCACATCCTCTACAAC	0.433																																						ENST00000380087.2																			0				biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	25						c.(691-693)gAt>gTt		retinoblastoma binding protein 7							169.0	120.0	137.0					X																	16871871		2203	4300	6503	SO:0001583	missense	5931				cell proliferation|cellular heat acclimation|CenH3-containing nucleosome assembly at centromere|DNA replication|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex|NuRD complex	protein binding	g.chrX:16871871T>A	U35143	CCDS14179.1, CCDS56598.1	Xp22.22	2013-01-10	2001-11-28		ENSG00000102054	ENSG00000102054		"""WD repeat domain containing"""	9890	protein-coding gene	gene with protein product	"""G1/S transition control protein-binding protein RbAp46"", ""retinoblastoma-binding protein 7"", ""retinoblastoma-binding protein RbAp46"", ""histone acetyltransferase type B subunit 2"", ""retinoblastoma-binding protein p46"""	300825	"""retinoblastoma-binding protein 7"""			7503932	Standard	NM_002893		Approved	RbAp46	uc004cxs.2	Q16576	OTTHUMG00000021198	ENST00000380087.2:c.692A>T	X.37:g.16871871T>A	ENSP00000369427:p.Asp231Val					RBBP7_ENST00000380084.4_Missense_Mutation_p.D275V|RBBP7_ENST00000404022.1_Missense_Mutation_p.D222V	p.D231V			Q16576	RBBP7_HUMAN			6	1052	-	Hepatocellular(33;0.0997)		231					Q5JP00	Missense_Mutation	SNP	ENST00000380087.2	37	c.692A>T	CCDS14179.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.512773	0.85389	.	.	ENSG00000102054	ENST00000380087;ENST00000380084;ENST00000404022;ENST00000444437;ENST00000416035	T;T;T;T;T	0.60797	0.16;0.16;0.16;0.16;0.16	5.44	5.44	0.79542	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.80396	0.4615	M	0.91300	3.195	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.993;0.997;0.993;0.997	D	0.84923	0.0855	10	0.87932	D	0	-31.3305	13.4601	0.61223	0.0:0.0:0.0:1.0	.	217;222;231;275	B0R0W4;E9PC52;Q16576;Q5JP00	.;.;RBBP7_HUMAN;.	V	231;275;222;35;151	ENSP00000369427:D231V;ENSP00000369424:D275V;ENSP00000386068:D222V;ENSP00000402796:D35V;ENSP00000392714:D151V	ENSP00000369424:D275V	D	-	2	0	RBBP7	16781792	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	7.993000	0.88291	1.926000	0.55796	0.486000	0.48141	GAT		0.433	RBBP7-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055920.2	NM_002893		8	33	0	0	0	1	0	8	33				
PLCH1	23007	broad.mit.edu	37	3	155203374	155203374	+	Silent	SNP	G	G	A	rs201399532	byFrequency	TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr3:155203374G>A	ENST00000340059.7	-	22	2768	c.2769C>T	c.(2767-2769)agC>agT	p.S923S	PLCH1_ENST00000460012.1_Silent_p.S885S|PLCH1-AS2_ENST00000472913.1_RNA|PLCH1_ENST00000447496.2_Silent_p.S923S|PLCH1_ENST00000334686.6_Silent_p.S885S|PLCH1_ENST00000494598.1_Silent_p.S903S|PLCH1_ENST00000414191.1_Silent_p.S885S	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	923					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TGGCTGGGGCGCTAGCTGTGC	0.473													G|||	3	0.000599042	0.0008	0.0	5008	,	,		19611	0.0		0.002	False		,,,				2504	0.0					ENST00000460012.1																			0				NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107						c.(2653-2655)agC>agT		phospholipase C, eta 1							130.0	123.0	125.0					3																	155203374		2203	4300	6503	SO:0001819	synonymous_variant	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155203374G>A	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.2769C>T	3.37:g.155203374G>A						PLCH1_ENST00000447496.2_Silent_p.S923S|PLCH1_ENST00000414191.1_Silent_p.S885S|PLCH1_ENST00000340059.7_Silent_p.S923S|PLCH1_ENST00000334686.6_Silent_p.S885S|PLCH1_ENST00000494598.1_Silent_p.S903S	p.S885S			Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		22	3012	-			923					Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Silent	SNP	ENST00000340059.7	37	c.2655C>T	CCDS46939.1																																																																																				0.473	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		4	66	0	0	0	1	0	4	66				
KIAA0195	9772	broad.mit.edu	37	17	73489130	73489130	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr17:73489130G>T	ENST00000314256.7	+	16	2427	c.2033G>T	c.(2032-2034)cGg>cTg	p.R678L	KIAA0195_ENST00000375248.5_Missense_Mutation_p.R688L|KIAA0195_ENST00000579208.1_Missense_Mutation_p.R329L	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	678						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GTCACCAAGCGGCGGCCTCCC	0.602																																						ENST00000314256.7																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42						c.(2032-2034)cGg>cTg		KIAA0195							51.0	46.0	48.0					17																	73489130		2203	4300	6503	SO:0001583	missense	9772				ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism	g.chr17:73489130G>T		CCDS32732.1	17q25.1	2012-03-01			ENSG00000177728	ENSG00000177728			28983	protein-coding gene	gene with protein product						8724849	Standard	NM_014738		Approved	TMEM94	uc002jnz.4	Q12767		ENST00000314256.7:c.2033G>T	17.37:g.73489130G>T	ENSP00000313885:p.Arg678Leu					KIAA0195_ENST00000375248.5_Missense_Mutation_p.R688L|KIAA0195_ENST00000579208.1_Missense_Mutation_p.R329L	p.R678L	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		16	2427	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		678					O75536|Q86XF1	Missense_Mutation	SNP	ENST00000314256.7	37	c.2033G>T	CCDS32732.1	.	.	.	.	.	.	.	.	.	.	G	16.38	3.107335	0.56291	.	.	ENSG00000177728	ENST00000314256;ENST00000375248	T;T	0.44482	0.92;0.92	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.53142	0.1778	L	0.34521	1.04	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.993;0.998;0.995	T	0.33163	-0.9879	10	0.10111	T	0.7	-36.8617	19.9058	0.97007	0.0:0.0:1.0:0.0	.	688;688;678	B4DGC6;C9JL75;Q12767	.;.;K0195_HUMAN	L	678;688	ENSP00000313885:R678L;ENSP00000364397:R688L	ENSP00000313885:R678L	R	+	2	0	KIAA0195	71000725	1.000000	0.71417	1.000000	0.80357	0.784000	0.44337	9.727000	0.98787	2.716000	0.92895	0.561000	0.74099	CGG		0.602	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447303.1	NM_014738		8	40	1	0	5.18039e-06	1	5.51733e-06	8	40				
JAKMIP3	282973	broad.mit.edu	37	10	133966476	133966476	+	Silent	SNP	G	G	A			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr10:133966476G>A	ENST00000298622.4	+	16	2154	c.2016G>A	c.(2014-2016)gaG>gaA	p.E672E	JAKMIP3_ENST00000477275.1_3'UTR	NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3	672						Golgi apparatus (GO:0005794)				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		TGACCAATGAGGAGCAGGTGG	0.582																																						ENST00000298622.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31						c.(2014-2016)gaG>gaA		Janus kinase and microtubule interacting protein 3							118.0	79.0	92.0					10																	133966476		2199	4293	6492	SO:0001819	synonymous_variant	282973							g.chr10:133966476G>A	AL832756	CCDS44494.1	10q26.3	2009-04-23	2009-04-23	2008-01-28	ENSG00000188385	ENSG00000188385			23523	protein-coding gene	gene with protein product	"""neuroendocrine long coiled-coil 2"""	611198	"""chromosome 10 open reading frame 39"", ""chromosome 10 open reading frame 14"""	C10orf39, C10orf14		15277531, 17572408	Standard	NM_001105521		Approved	FLJ37857, NECC2, KIAA4091, bA140A10.5	uc001lkx.4	Q5VZ66	OTTHUMG00000150167	ENST00000298622.4:c.2016G>A	10.37:g.133966476G>A						JAKMIP3_ENST00000477275.1_3'UTR	p.E672E	NM_001105521.2	NP_001098991.1				OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)	16	2154	+		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)						A6PW00|Q69YM6|Q6ZT29	Silent	SNP	ENST00000298622.4	37	c.2016G>A	CCDS44494.1																																																																																				0.582	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051049.3	NM_194303		2	1	0	0	0	1	0	2	1				
LMOD2	442721	broad.mit.edu	37	7	123302858	123302858	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr7:123302858A>T	ENST00000458573.2	+	2	1375	c.1218A>T	c.(1216-1218)aaA>aaT	p.K406N	LMOD2_ENST00000456238.2_Intron	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	406	Pro-rich.					cytoskeleton (GO:0005856)											TCCCCAAAAAAGTCCAGACTG	0.567																																						ENST00000458573.2																			0											c.(1216-1218)aaA>aaT		leiomodin 2 (cardiac)							52.0	54.0	53.0					7																	123302858		1974	4141	6115	SO:0001583	missense	442721					cytoskeleton	actin binding|tropomyosin binding	g.chr7:123302858A>T	AC006333	CCDS47693.1	7q31.32	2008-08-08			ENSG00000170807	ENSG00000170807			6648	protein-coding gene	gene with protein product		608006					Standard	NM_207163		Approved		uc003vky.2	Q6P5Q4	OTTHUMG00000157149	ENST00000458573.2:c.1218A>T	7.37:g.123302858A>T	ENSP00000411932:p.Lys406Asn					LMOD2_ENST00000456238.2_Intron	p.K406N	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN			2	1375	+			406			Pro-rich.		A4D0W9|A4D0Y2|Q8WVJ8	Missense_Mutation	SNP	ENST00000458573.2	37	c.1218A>T	CCDS47693.1	.	.	.	.	.	.	.	.	.	.	A	12.54	1.968851	0.34754	.	.	ENSG00000170807	ENST00000458573;ENST00000444702;ENST00000332074	T	0.33654	1.4	5.46	1.78	0.24846	.	.	.	.	.	T	0.37517	0.1006	M	0.63843	1.955	0.80722	D	1	D	0.59767	0.986	P	0.47981	0.563	T	0.13442	-1.0509	9	0.35671	T	0.21	.	8.3886	0.32516	0.7092:0.0:0.2908:0.0	.	406	Q6P5Q4	LMOD2_HUMAN	N	406;366;377	ENSP00000411932:K406N	ENSP00000405123:K377N	K	+	3	2	LMOD2	123090094	1.000000	0.71417	0.908000	0.35775	0.106000	0.19336	1.978000	0.40598	0.447000	0.26695	0.402000	0.26972	AAA		0.567	LMOD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348525.1			7	42	0	0	0	1	0	7	42				
MTUS2	23281	broad.mit.edu	37	13	29933536	29933536	+	Missense_Mutation	SNP	G	G	A	rs199945692		TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr13:29933536G>A	ENST00000431530.3	+	6	3131	c.3073G>A	c.(3073-3075)Gcg>Acg	p.A1025T		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	1015	Localization to the growing distal tip of microtubules.					cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GCTGGGCGTTGCGCAAGGGGA	0.642																																						ENST00000431530.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						c.(3073-3075)Gcg>Acg		microtubule associated tumor suppressor candidate 2																																				SO:0001583	missense	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29933536G>A	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.3073G>A	13.37:g.29933536G>A	ENSP00000392057:p.Ala1025Thr						p.A1025T	NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN			6	3131	+			1015			Localization to the growing distal tip of microtubules.		A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000431530.3	37	c.3073G>A	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	G	3.688	-0.064052	0.07273	.	.	ENSG00000132938	ENST00000431530	T	0.12255	2.7	4.91	0.0948	0.14482	.	1.684160	0.03298	N	0.188627	T	0.11623	0.0283	L	0.36672	1.1	0.09310	N	0.999999	B	0.06786	0.001	B	0.08055	0.003	T	0.30504	-0.9976	9	.	.	.	.	5.7867	0.18336	0.3233:0.1403:0.5364:0.0	.	1015	Q5JR59	MTUS2_HUMAN	T	1025	ENSP00000392057:A1025T	.	A	+	1	0	MTUS2	28831536	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.001000	0.13038	0.023000	0.15187	0.591000	0.81541	GCG		0.642	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		5	16	0	0	0	1	0	5	16				
NBAS	51594	broad.mit.edu	37	2	15319196	15319196	+	Silent	SNP	C	C	T			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr2:15319196C>T	ENST00000281513.5	-	51	6781	c.6756G>A	c.(6754-6756)ctG>ctA	p.L2252L	NBAS_ENST00000441750.1_Silent_p.L2132L	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	2252					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						GAGATGGAAGCAGGAGGGACT	0.552																																						ENST00000281513.5																			0				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						c.(6754-6756)ctG>ctA		neuroblastoma amplified sequence							91.0	77.0	82.0					2																	15319196		2203	4300	6503	SO:0001819	synonymous_variant	51594							g.chr2:15319196C>T	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.6756G>A	2.37:g.15319196C>T						NBAS_ENST00000441750.1_Silent_p.L2132L	p.L2252L	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN			51	6781	-			2252					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Silent	SNP	ENST00000281513.5	37	c.6756G>A	CCDS1685.1	.	.	.	.	.	.	.	.	.	.	C	2.040	-0.420279	0.04734	.	.	ENSG00000151779	ENST00000442506	.	.	.	5.86	4.08	0.47627	.	.	.	.	.	T	0.63010	0.2475	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59747	-0.7396	4	.	.	.	.	12.0148	0.53307	0.0:0.8747:0.0:0.1253	.	.	.	.	Y	1300	.	.	C	-	2	0	NBAS	15236647	1.000000	0.71417	0.833000	0.33012	0.205000	0.24178	1.087000	0.30865	0.832000	0.34804	0.591000	0.81541	TGC		0.552	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		6	48	0	0	0	1	0	6	48				
TCEB3B	51224	broad.mit.edu	37	18	44561319	44561319	+	Missense_Mutation	SNP	T	T	A	rs146911955|rs386802916	byFrequency	TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr18:44561319T>A	ENST00000332567.4	-	1	669	c.317A>T	c.(316-318)cAg>cTg	p.Q106L	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	106					regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.Q106R(1)		breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GGCCTTTTCCTGGTCCTGAAG	0.652																																						ENST00000332567.4																			1	Substitution - Missense(1)	p.Q106R(1)	cervix(1)	breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(316-318)cAg>cTg		transcription elongation factor B polypeptide 3B (elongin A2)							45.0	52.0	49.0					18																	44561319		2200	4297	6497	SO:0001583	missense	51224				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	g.chr18:44561319T>A	BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"""transcription elongation factor (SIII) elongin A2"", ""elongin A2"""	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.317A>T	18.37:g.44561319T>A	ENSP00000331302:p.Gln106Leu					KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron	p.Q106L	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN			1	669	-			106					Q9P2V9	Missense_Mutation	SNP	ENST00000332567.4	37	c.317A>T	CCDS11932.1	.	.	.	.	.	.	.	.	.	.	C	9.335	1.061657	0.19987	.	.	ENSG00000206181	ENST00000332567	T	0.08193	3.12	2.28	-3.13	0.05266	.	12.396300	0.00508	U	0.000161	T	0.08179	0.0204	L	0.36672	1.1	0.09310	N	1	B	0.27498	0.18	B	0.19946	0.027	T	0.32851	-0.9891	10	0.54805	T	0.06	-1.7422	8.6283	0.33904	0.0:0.5243:0.0:0.4757	.	106	Q8IYF1	ELOA2_HUMAN	L	106	ENSP00000331302:Q106L	ENSP00000331302:Q106L	Q	-	2	0	TCEB3B	42815317	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.321000	0.08018	-1.301000	0.02338	-1.425000	0.01104	CAG		0.652	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255900.1	NM_016427		20	47	0	0	0	1	0	20	47				
BMP6	654	broad.mit.edu	37	6	7727541	7727541	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr6:7727541A>T	ENST00000283147.6	+	1	512	c.353A>T	c.(352-354)cAg>cTg	p.Q118L		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	118					BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular response to mechanical stimulus (GO:0071260)|endochondral ossification (GO:0001958)|eye development (GO:0001654)|growth (GO:0040007)|immune response (GO:0006955)|inflammatory response (GO:0006954)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|osteoblast differentiation (GO:0001649)|positive regulation of aldosterone biosynthetic process (GO:0032349)|positive regulation of aldosterone secretion (GO:2000860)|positive regulation of bone mineralization (GO:0030501)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to activity (GO:0014823)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to retinoic acid (GO:0032526)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|type B pancreatic cell development (GO:0003323)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)|protein heterodimerization activity (GO:0046982)	p.Q118L(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					cagcagcagcagcTGCCTCGC	0.731																																						ENST00000283147.6																			1	Substitution - Missense(1)	p.Q118L(1)	lung(1)	breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23						c.(352-354)cAg>cTg		bone morphogenetic protein 6																																				SO:0001583	missense	654				BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity	g.chr6:7727541A>T	AF083030	CCDS4503.1	6p24-p23	2014-01-30	2003-10-06		ENSG00000153162	ENSG00000153162		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1073	protein-coding gene	gene with protein product		112266	"""vegetal related growth factor (TGFB-related)"""	VGR		1427904, 1453478	Standard	NM_001718		Approved	VGR1	uc003mxu.4	P22004	OTTHUMG00000014217	ENST00000283147.6:c.353A>T	6.37:g.7727541A>T	ENSP00000283147:p.Gln118Leu						p.Q118L	NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN			1	512	+	Ovarian(93;0.0721)		118					Q5TCP3	Missense_Mutation	SNP	ENST00000283147.6	37	c.353A>T	CCDS4503.1	.	.	.	.	.	.	.	.	.	.	A	5.648	0.304211	0.10678	.	.	ENSG00000153162	ENST00000537240;ENST00000283147;ENST00000540959	T	0.72725	-0.68	3.64	-7.28	0.01456	Transforming growth factor-beta, N-terminal (1);	0.609742	0.13235	N	0.403351	T	0.27134	0.0665	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.10382	-1.0632	10	0.41790	T	0.15	.	2.9855	0.05966	0.1788:0.4954:0.0931:0.2327	.	118	P22004	BMP6_HUMAN	L	40;118;81	ENSP00000283147:Q118L	ENSP00000283147:Q118L	Q	+	2	0	BMP6	7672540	0.177000	0.23109	0.002000	0.10522	0.071000	0.16799	-0.158000	0.10070	-1.400000	0.02061	-1.802000	0.00618	CAG		0.731	BMP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039794.1	NM_001718		3	19	0	0	0	1	0	3	19				
ELAVL2	1993	broad.mit.edu	37	9	23765013	23765013	+	Intron	SNP	C	C	T			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr9:23765013C>T	ENST00000397312.2	-	2	260				ELAVL2_ENST00000380117.1_Intron|ELAVL2_ENST00000223951.6_Intron|ELAVL2_ENST00000544538.1_Intron|ELAVL2_ENST00000462649.1_5'Flank|ELAVL2_ENST00000380110.4_Nonsense_Mutation_p.W22*	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2						regulation of transcription, DNA-templated (GO:0006355)		mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		AGACCCCGGTCCAAGGCTCTG	0.463																																						ENST00000380110.4																			0				breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39						c.(64-66)tgG>tgA		ELAV like neuron-specific RNA binding protein 2							146.0	137.0	140.0					9																	23765013		876	1991	2867	SO:0001627	intron_variant	1993				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding	g.chr9:23765013C>T	BC030692	CCDS6515.1, CCDS55298.1	9p21	2013-10-03	2013-10-03		ENSG00000107105	ENSG00000107105		"""RNA binding motif (RRM) containing"""	3313	protein-coding gene	gene with protein product	"""Hu antigen B"""	601673	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2"", ""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B)"""			8812435	Standard	NM_004432		Approved	HuB, HEL-N1	uc003zpu.3	Q12926	OTTHUMG00000019700	ENST00000397312.2:c.15-2766G>A	9.37:g.23765013C>T						ELAVL2_ENST00000544538.1_Intron|ELAVL2_ENST00000380117.1_Intron|ELAVL2_ENST00000223951.6_Intron|ELAVL2_ENST00000397312.2_Intron	p.W22*			Q12926	ELAV2_HUMAN		GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)	2	133	-			0					D3DRK3|Q13235|Q59G15|Q8NEM4|Q9H1Q8	Nonsense_Mutation	SNP	ENST00000397312.2	37	c.66G>A	CCDS6515.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.238426	0.79800	.	.	ENSG00000107105	ENST00000359598	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	22	.	ENSP00000352612:W22X	W	-	3	0	ELAVL2	23755013	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.372000	0.79612	2.941000	0.99782	0.655000	0.94253	TGG		0.463	ELAVL2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051943.2	NM_004432		6	64	0	0	0	1	0	6	64				
SATB2	23314	broad.mit.edu	37	2	200193463	200193463	+	Silent	SNP	G	G	A			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr2:200193463G>A	ENST00000417098.1	-	8	2160	c.1344C>T	c.(1342-1344)gtC>gtT	p.V448V	SATB2_ENST00000443023.1_Silent_p.V389V|SATB2_ENST00000457245.1_Silent_p.V448V|SATB2_ENST00000260926.5_Silent_p.V448V|RP11-486F17.1_ENST00000489557.2_RNA|SATB2_ENST00000428695.1_Silent_p.V330V	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	448					cartilage development (GO:0051216)|cellular response to organic substance (GO:0071310)|chromatin remodeling (GO:0006338)|embryonic pattern specification (GO:0009880)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|osteoblast development (GO:0002076)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AGGCCGAGGAGACCATGCTCA	0.527																																					Colon(30;262 767 11040 24421 36230)	ENST00000443023.1																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(1165-1167)gtC>gtT		SATB homeobox 2							140.0	124.0	129.0					2																	200193463		2203	4300	6503	SO:0001819	synonymous_variant	23314					cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity	g.chr2:200193463G>A	AB028957	CCDS2327.1	2q33.1	2011-06-20	2007-02-15		ENSG00000119042	ENSG00000119042		"""Homeoboxes / CUT class"""	21637	protein-coding gene	gene with protein product		608148	"""SATB family member 2"""				Standard	NM_015265		Approved	KIAA1034, FLJ21474	uc002uva.2	Q9UPW6	OTTHUMG00000132767	ENST00000417098.1:c.1344C>T	2.37:g.200193463G>A						RP11-486F17.1_ENST00000489557.2_RNA|SATB2_ENST00000428695.1_Silent_p.V330V|SATB2_ENST00000457245.1_Silent_p.V448V|SATB2_ENST00000417098.1_Silent_p.V448V|SATB2_ENST00000260926.5_Silent_p.V448V	p.V389V			Q9UPW6	SATB2_HUMAN			7	2632	-			448					A8K5Z8|Q3ZB87|Q4V763	Silent	SNP	ENST00000417098.1	37	c.1167C>T	CCDS2327.1																																																																																				0.527	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256140.1	NM_015265		8	55	0	0	0	1	0	8	55				
LAMA2	3908	broad.mit.edu	37	6	129828664	129828664	+	Missense_Mutation	SNP	A	A	C			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr6:129828664A>C	ENST00000421865.2	+	62	8783	c.8734A>C	c.(8734-8736)Aat>Cat	p.N2912H		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2912	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CTGCGTCAGGAATCTCCACAT	0.453																																						ENST00000421865.2																			0				NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194						c.(8734-8736)Aat>Cat		laminin, alpha 2							120.0	109.0	113.0					6																	129828664		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129828664A>C	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.8734A>C	6.37:g.129828664A>C	ENSP00000400365:p.Asn2912His						p.N2912H	NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	62	8783	+			2912			Laminin G-like 4.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.8734A>C	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	A	16.69	3.194469	0.58017	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865;ENST00000443169	T	0.71341	-0.56	5.13	5.13	0.70059	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.085472	0.85682	D	0.000000	T	0.77725	0.4173	M	0.66939	2.045	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	T	0.78708	-0.2099	9	.	.	.	.	14.9263	0.70881	1.0:0.0:0.0:0.0	.	2913;2912	A6NF00;P24043	.;LAMA2_HUMAN	H	2912;2911;2912;930	ENSP00000400365:N2912H	.	N	+	1	0	LAMA2	129870357	1.000000	0.71417	0.998000	0.56505	0.395000	0.30598	7.425000	0.80255	1.946000	0.56461	0.402000	0.26972	AAT		0.453	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			13	87	0	0	0	1	0	13	87				
MYO18B	84700	broad.mit.edu	37	22	26423388	26423388	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr22:26423388C>A	ENST00000407587.2	+	43	7620	c.7451C>A	c.(7450-7452)tCc>tAc	p.S2484Y	MYO18B_ENST00000536101.1_Missense_Mutation_p.S2483Y|MYO18B_ENST00000335473.7_Missense_Mutation_p.S2483Y			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2483						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GCTAACCGTTCCTTTCTCTCG	0.562																																						ENST00000335473.7																			0				NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						c.(7447-7449)tCc>tAc		myosin XVIIIB							78.0	80.0	80.0					22																	26423388		1995	4161	6156	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26423388C>A	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.7451C>A	22.37:g.26423388C>A	ENSP00000386096:p.Ser2484Tyr					MYO18B_ENST00000407587.2_Missense_Mutation_p.S2484Y|MYO18B_ENST00000536101.1_Missense_Mutation_p.S2483Y	p.S2483Y	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN			43	7698	+			2483					B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.7448C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.363|7.363	0.625168|0.625168	0.14257|0.14257	.|.	.|.	ENSG00000133454|ENSG00000133454	ENST00000543971|ENST00000536101;ENST00000335473;ENST00000407587	.|D;D;D	.|0.87887	.|-2.29;-2.29;-2.31	4.87|4.87	-3.14|-3.14	0.05250|0.05250	.|.	.|2.027800	.|0.02153	.|N	.|0.058207	T|T	0.81856|0.81856	0.4911|0.4911	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	.|P;P;P;P;P	.|0.41569	.|0.755;0.641;0.641;0.755;0.755	.|B;B;B;B;B	.|0.41036	.|0.346;0.188;0.188;0.346;0.346	T|T	0.73994|0.73994	-0.3807|-0.3807	5|10	.|0.66056	.|D	.|0.02	.|.	13.7074|13.7074	0.62648|0.62648	0.0994:0.3451:0.5555:0.0|0.0994:0.3451:0.5555:0.0	.|.	.|1996;2485;2483;2484;2483	.|Q8IUG5-2;B0QYF5;Q8IUG5;F5GXR6;F5GYU7	.|.;.;MY18B_HUMAN;.;.	T|Y	433|2483;2483;2484	.|ENSP00000441229:S2483Y;ENSP00000334563:S2483Y;ENSP00000386096:S2484Y	.|ENSP00000334563:S2483Y	P|S	+|+	1|2	0|0	MYO18B|MYO18B	24753388|24753388	0.000000|0.000000	0.05858|0.05858	0.008000|0.008000	0.14137|0.14137	0.052000|0.052000	0.14988|0.14988	0.193000|0.193000	0.17116|0.17116	-0.086000|-0.086000	0.12550|0.12550	0.561000|0.561000	0.74099|0.74099	CCT|TCC		0.562	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		5	38	1	0	1	1	1	5	38				
TRGV4	6977	broad.mit.edu	37	7	38393543	38393543	+	RNA	SNP	G	G	C			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr7:38393543G>C	ENST00000390345.2	-	0	460									T cell receptor gamma variable 4																		CCTTCAGCAAGATCACAAGTG	0.512																																						ENST00000390345.2																			0																				98.0	85.0	89.0					7																	38393543		1830	3920	5750			6977							g.chr7:38393543G>C	X15272		7p14	2013-12-13			ENSG00000211698	ENSG00000211698		"""T cell receptors / TRG locus"""	12289	other	T cell receptor gene	"""T-cell receptor, gamma, variable region V4"""			TCRGV4		2969332	Standard	NG_001336		Approved	V1S4			OTTHUMG00000155099		7.37:g.38393543G>C														0	460	-									RNA	SNP	ENST00000390345.2	37																																																																																						0.512	TRGV4-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000338400.4	NG_001336		8	87	0	0	0	1	0	8	87				
CMYA5	202333	broad.mit.edu	37	5	79026749	79026749	+	Silent	SNP	T	T	C			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr5:79026749T>C	ENST00000446378.2	+	2	2192	c.2161T>C	c.(2161-2163)Tta>Cta	p.L721L		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	721					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TAAGTCCCCGTTAATATTGAA	0.453																																						ENST00000446378.2																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128						c.(2161-2163)Tta>Cta		cardiomyopathy associated 5							85.0	80.0	82.0					5																	79026749		1919	4146	6065	SO:0001819	synonymous_variant	202333					perinuclear region of cytoplasm		g.chr5:79026749T>C	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.2161T>C	5.37:g.79026749T>C							p.L721L	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	2192	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	721					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Silent	SNP	ENST00000446378.2	37	c.2161T>C	CCDS47238.1																																																																																				0.453	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		6	37	0	0	0	1	0	6	37				
CASP4	837	broad.mit.edu	37	11	104821749	104821749	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr11:104821749G>A	ENST00000444739.2	-	4	1359	c.449C>T	c.(448-450)cCt>cTt	p.P150L	CASP4_ENST00000531333.1_5'UTR|CASP4_ENST00000393150.3_Missense_Mutation_p.P94L	NM_001225.3	NP_001216.1	P49662	CASP4_HUMAN	caspase 4, apoptosis-related cysteine peptidase	150					apoptotic process (GO:0006915)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|IPAF inflammasome complex (GO:0072557)|membrane (GO:0016020)|mitochondrion (GO:0005739)|NLRP3 inflammasome complex (GO:0072559)	cysteine-type endopeptidase activity (GO:0004197)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		ATTCCTCGGAGGCAGATGGTC	0.463																																						ENST00000444739.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23						c.(448-450)cCt>cTt		caspase 4, apoptosis-related cysteine peptidase							207.0	184.0	191.0					11																	104821749		2202	4299	6501	SO:0001583	missense	837				apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding	g.chr11:104821749G>A	U25804	CCDS8327.1, CCDS41704.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000196954	ENSG00000196954		"""Caspases"""	1505	protein-coding gene	gene with protein product		602664	"""caspase 4, apoptosis-related cysteine protease"""			7797510, 9250871	Standard	NM_001225		Approved	ICE(rel)II, ICH-2, TX	uc001pid.1	P49662	OTTHUMG00000166078	ENST00000444739.2:c.449C>T	11.37:g.104821749G>A	ENSP00000388566:p.Pro150Leu					CASP4_ENST00000531333.1_5'UTR|CASP4_ENST00000393150.3_Missense_Mutation_p.P94L	p.P150L	NM_001225.3	NP_001216.1	P49662	CASP4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)	4	1359	-		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)	150					A2NHL8|A2NHM0	Missense_Mutation	SNP	ENST00000444739.2	37	c.449C>T	CCDS8327.1	.	.	.	.	.	.	.	.	.	.	G	2.059	-0.415949	0.04766	.	.	ENSG00000196954	ENST00000444739;ENST00000393150;ENST00000355546	T;T	0.20881	2.04;2.04	4.2	2.09	0.27110	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);Peptidase C14, ICE, catalytic subunit p20 (1);	1.390750	0.04354	N	0.356215	T	0.26195	0.0639	L	0.55103	1.725	0.09310	N	1	B;B	0.23377	0.084;0.007	B;B	0.26202	0.062;0.067	T	0.36866	-0.9730	10	0.52906	T	0.07	.	10.6217	0.45484	0.0:0.0:0.6439:0.3561	.	150;150	B4E2D2;P49662	.;CASP4_HUMAN	L	150;94;103	ENSP00000388566:P150L;ENSP00000376857:P94L	ENSP00000347741:P103L	P	-	2	0	CASP4	104326959	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-0.052000	0.11865	0.942000	0.37525	-0.175000	0.13238	CCT		0.463	CASP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387751.1	NM_001225		9	91	0	0	0	1	0	9	91				
NRXN3	9369	broad.mit.edu	37	14	80158520	80158520	+	Intron	SNP	C	C	A			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr14:80158520C>A	ENST00000557594.1	+	4	1554				NRXN3_ENST00000335750.5_Intron|NRXN3_ENST00000281127.7_Intron|NRXN3_ENST00000554719.1_Intron|RP11-242P2.1_ENST00000553322.1_RNA|NRXN3_ENST00000428277.2_Missense_Mutation_p.N202K|NRXN3_ENST00000556003.1_Intron	NM_001272020.1	NP_001258949.1	Q9HDB5	NRX3B_HUMAN	neurexin 3						adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TTAAAGGCAACACTGATAATG	0.328																																						ENST00000428277.2																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104						c.(604-606)aaC>aaA		neurexin 3							54.0	51.0	52.0					14																	80158520		1803	4072	5875	SO:0001627	intron_variant	9369				angiogenesis|cell adhesion	integral to membrane		g.chr14:80158520C>A	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000557594.1:c.602-5453C>A	14.37:g.80158520C>A						NRXN3_ENST00000556003.1_Intron|NRXN3_ENST00000335750.5_Intron|NRXN3_ENST00000281127.7_Intron|NRXN3_ENST00000557594.1_Intron|NRXN3_ENST00000554719.1_Intron|RP11-242P2.1_ENST00000553322.1_RNA	p.N202K	NM_001105250.1	NP_001098720.1	Q9HDB5	NRX3B_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	4	992	+		Renal(4;0.00876)	200			Laminin G-like.		A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	ENST00000557594.1	37	c.606C>A		.	.	.	.	.	.	.	.	.	.	C	19.91	3.914838	0.72983	.	.	ENSG00000021645	ENST00000332068;ENST00000428277	T	0.77489	-1.1	5.72	5.72	0.89469	.	.	.	.	.	D	0.88373	0.6419	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.87885	0.2680	7	.	.	.	.	18.0612	0.89378	0.0:1.0:0.0:0.0	.	202	Q9HDB5-4	.	K	1196;202	ENSP00000394426:N202K	.	N	+	3	2	NRXN3	79228273	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.704000	0.92352	0.650000	0.86243	AAC		0.328	NRXN3-004	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000413790.1	NM_001105250		3	19	1	0	0.004672	1	0.0047815	3	19				
SOX17	64321	broad.mit.edu	37	8	55370808	55370808	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr8:55370808G>T	ENST00000297316.4	+	1	314	c.110G>T	c.(109-111)aGc>aTc	p.S37I		NM_022454.3	NP_071899.1	Q9H6I2	SOX17_HUMAN	SRY (sex determining region Y)-box 17	37					angiogenesis (GO:0001525)|canonical Wnt signaling pathway (GO:0060070)|cardiac cell fate determination (GO:0060913)|cardiogenic plate morphogenesis (GO:0003142)|cell migration involved in gastrulation (GO:0042074)|common bile duct development (GO:0061009)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cell differentiation (GO:0060956)|endocardium formation (GO:0060214)|endoderm formation (GO:0001706)|endodermal cell fate determination (GO:0007493)|endodermal digestive tract morphogenesis (GO:0061031)|gall bladder development (GO:0061010)|heart formation (GO:0060914)|heart looping (GO:0001947)|inner cell mass cellular morphogenesis (GO:0001828)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell growth (GO:0030308)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|outflow tract morphogenesis (GO:0003151)|positive regulation of cell differentiation (GO:0045597)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein destabilization (GO:0031648)|protein stabilization (GO:0050821)|regulation of cardiac cell fate specification (GO:2000043)|regulation of embryonic development (GO:0045995)|regulation of stem cell division (GO:2000035)|regulation of stem cell proliferation (GO:0072091)|regulation of transcription from RNA polymerase II promoter involved in definitive endodermal cell fate specification (GO:0060807)|regulation of transcription, DNA-templated (GO:0006355)|renal system development (GO:0072001)|rostrocaudal neural tube patterning (GO:0021903)|signal transduction involved in regulation of gene expression (GO:0023019)|spermatogenesis (GO:0007283)|stem cell fate specification (GO:0048866)|vasculogenesis (GO:0001570)	nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)	18		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			GAGTCGCTGAGCCCCATCGGG	0.751																																						ENST00000297316.4																			0				endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)	18						c.(109-111)aGc>aTc		SRY (sex determining region Y)-box 17							6.0	8.0	8.0					8																	55370808		2118	4143	6261	SO:0001583	missense	64321				angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway	transcription factor complex	beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr8:55370808G>T	AB073988	CCDS6159.1	8q11.23	2014-09-04			ENSG00000164736	ENSG00000164736		"""SRY (sex determining region Y)-boxes"""	18122	protein-coding gene	gene with protein product		610928				11786926	Standard	NM_022454		Approved		uc003xsb.4	Q9H6I2	OTTHUMG00000164377	ENST00000297316.4:c.110G>T	8.37:g.55370808G>T	ENSP00000297316:p.Ser37Ile						p.S37I	NM_022454.3	NP_071899.1	Q9H6I2	SOX17_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)		1	314	+		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	37						Missense_Mutation	SNP	ENST00000297316.4	37	c.110G>T	CCDS6159.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.699550	0.88830	.	.	ENSG00000164736	ENST00000297316	D	0.97480	-4.4	4.45	4.45	0.53987	.	0.047650	0.85682	D	0.000000	D	0.97201	0.9085	L	0.55834	1.745	0.51233	D	0.999911	D	0.69078	0.997	P	0.61397	0.888	D	0.97010	0.9735	10	0.59425	D	0.04	.	13.0817	0.59117	0.0:0.1615:0.8385:0.0	.	37	Q9H6I2	SOX17_HUMAN	I	37	ENSP00000297316:S37I	ENSP00000297316:S37I	S	+	2	0	SOX17	55533361	1.000000	0.71417	0.994000	0.49952	0.988000	0.76386	5.116000	0.64661	2.464000	0.83262	0.561000	0.74099	AGC		0.751	SOX17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378526.2			3	15	1	0	0.004672	1	0.0047815	3	15				
FGF9	2254	broad.mit.edu	37	13	22246293	22246293	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr13:22246293C>G	ENST00000382353.5	+	1	772	c.242C>G	c.(241-243)aCt>aGt	p.T81S		NM_002010.2	NP_002001.1	P31371	FGF9_HUMAN	fibroblast growth factor 9	81					angiogenesis (GO:0001525)|cell-cell signaling (GO:0007267)|chondrocyte differentiation (GO:0002062)|embryonic digestive tract development (GO:0048566)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system development (GO:0048706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lung-associated mesenchyme development (GO:0060484)|male gonad development (GO:0008584)|male sex determination (GO:0030238)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoblast differentiation (GO:0001649)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein import into nucleus (GO:0006606)|regulation of timing of cell differentiation (GO:0048505)|signal transduction (GO:0007165)|substantia nigra development (GO:0021762)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(2)	9		all_cancers(29;1.23e-20)|all_epithelial(30;9.83e-19)|all_lung(29;9.64e-17)|Lung SC(185;0.0262)|Breast(139;0.106)		all cancers(112;3.92e-05)|Epithelial(112;0.000166)|OV - Ovarian serous cystadenocarcinoma(117;0.00314)|Lung(94;0.163)		CCCAATGGTACTATCCAGGGA	0.458																																					Melanoma(195;1939 2127 12623 13963 52730)	ENST00000382353.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(2)	9						c.(241-243)aCt>aGt		fibroblast growth factor 9							78.0	78.0	78.0					13																	22246293		2203	4300	6503	SO:0001583	missense	2254				cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|male gonad development|positive regulation of cell division	extracellular space	growth factor activity|heparin binding	g.chr13:22246293C>G	D14838	CCDS9298.1	13q11-q12	2014-01-30	2013-06-18		ENSG00000102678	ENSG00000102678		"""Endogenous ligands"""	3687	protein-coding gene	gene with protein product	"""glia-activating factor"""	600921	"""fibroblast growth factor 9 (glia-activating factor)"""			8321227	Standard	NM_002010		Approved		uc001uog.2	P31371	OTTHUMG00000017412	ENST00000382353.5:c.242C>G	13.37:g.22246293C>G	ENSP00000371790:p.Thr81Ser						p.T81S	NM_002010.2	NP_002001.1	P31371	FGF9_HUMAN		all cancers(112;3.92e-05)|Epithelial(112;0.000166)|OV - Ovarian serous cystadenocarcinoma(117;0.00314)|Lung(94;0.163)	1	772	+		all_cancers(29;1.23e-20)|all_epithelial(30;9.83e-19)|all_lung(29;9.64e-17)|Lung SC(185;0.0262)|Breast(139;0.106)	81					A8K427|Q3SY32	Missense_Mutation	SNP	ENST00000382353.5	37	c.242C>G	CCDS9298.1	.	.	.	.	.	.	.	.	.	.	C	10.61	1.399849	0.25291	.	.	ENSG00000102678	ENST00000382353	D	0.81739	-1.53	5.24	5.24	0.73138	.	0.068217	0.64402	D	0.000011	T	0.74913	0.3779	L	0.39245	1.2	0.44254	D	0.997102	B	0.06786	0.001	B	0.14578	0.011	T	0.68603	-0.5365	10	0.21540	T	0.41	.	18.8936	0.92414	0.0:1.0:0.0:0.0	.	81	P31371	FGF9_HUMAN	S	81	ENSP00000371790:T81S	ENSP00000371790:T81S	T	+	2	0	FGF9	21144293	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.506000	0.60428	2.478000	0.83669	0.555000	0.69702	ACT		0.458	FGF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046002.2			11	52	0	0	0	1	0	11	52				
HIST1H3C	8352	broad.mit.edu	37	6	26045748	26045748	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr6:26045748A>T	ENST00000540144.1	+	1	110	c.110A>T	c.(109-111)aAg>aTg	p.K37M	HIST1H2BB_ENST00000357905.2_5'Flank	NM_003531.2	NP_003522.1	P68431	H31_HUMAN	histone cluster 1, H3c	37					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1)	8						GGTGGCGTGAAGAAACCTCAT	0.632																																						ENST00000540144.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1)	8						c.(109-111)aAg>aTg		histone cluster 1, H3c							44.0	47.0	46.0					6																	26045748		2203	4300	6503	SO:0001583	missense	8352				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26045748A>T	X57128	CCDS4576.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196532	ENSG00000278272		"""Histones / Replication-dependent"""	4768	protein-coding gene	gene with protein product		602812	"""H3 histone family, member C"", ""histone 1, H3c"""	H3FC		8227173, 9119399, 12408966	Standard	NM_003531		Approved	H3/c, H3.1	uc003nfv.3	P68431	OTTHUMG00000014416	ENST00000540144.1:c.110A>T	6.37:g.26045748A>T	ENSP00000439493:p.Lys37Met						p.K37M	NM_003531.2	NP_003522.1	P68431	H31_HUMAN			1	110	+			37					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000540144.1	37	c.110A>T	CCDS4576.1	.	.	.	.	.	.	.	.	.	.	A	13.17	2.157156	0.38119	.	.	ENSG00000196532	ENST00000540144	T	0.56776	0.44	4.67	4.67	0.58626	.	.	.	.	.	T	0.58581	0.2132	.	.	.	0.42229	D	0.991889	.	.	.	.	.	.	T	0.65446	-0.6166	6	0.87932	D	0	.	13.9855	0.64331	1.0:0.0:0.0:0.0	.	.	.	.	M	37	ENSP00000439493:K37M	ENSP00000439493:K37M	K	+	2	0	HIST1H3C	26153727	1.000000	0.71417	1.000000	0.80357	0.033000	0.12548	6.203000	0.72137	2.045000	0.60652	0.482000	0.46254	AAG		0.632	HIST1H3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040078.1	NM_003531		11	26	0	0	0	1	0	11	26				
SPATA12	353324	broad.mit.edu	37	3	57107805	57107805	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr3:57107805G>C	ENST00000334325.1	+	2	758	c.83G>C	c.(82-84)aGa>aCa	p.R28T	ARHGEF3_ENST00000338458.4_Intron	NM_181727.1	NP_859078.1	Q7Z6I5	SPT12_HUMAN	spermatogenesis associated 12	28										large_intestine(2)|lung(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.0111)|Kidney(284;0.0129)		GACTCTTCCAGACTCGTTCCA	0.552																																						ENST00000334325.1																			0				large_intestine(2)|lung(1)	3						c.(82-84)aGa>aCa		spermatogenesis associated 12							69.0	67.0	67.0					3																	57107805		2203	4300	6503	SO:0001583	missense	353324							g.chr3:57107805G>C	AY221117	CCDS2879.1	3p21.2	2012-09-19			ENSG00000186451	ENSG00000186451			23221	protein-coding gene	gene with protein product		609869				22981541, 17251597	Standard	NM_181727		Approved		uc003dij.1	Q7Z6I5	OTTHUMG00000158862	ENST00000334325.1:c.83G>C	3.37:g.57107805G>C	ENSP00000335392:p.Arg28Thr					ARHGEF3_ENST00000338458.4_Intron	p.R28T	NM_181727.1	NP_859078.1	Q7Z6I5	SPT12_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0111)|Kidney(284;0.0129)	2	758	+			28					A0AVA8|B2RMW1	Missense_Mutation	SNP	ENST00000334325.1	37	c.83G>C	CCDS2879.1	.	.	.	.	.	.	.	.	.	.	G	6.292	0.421987	0.11928	.	.	ENSG00000186451	ENST00000334325	.	.	.	2.55	0.693	0.18056	.	.	.	.	.	T	0.16811	0.0404	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.20638	-1.0269	8	0.87932	D	0	.	3.6992	0.08376	0.1518:0.2608:0.5875:0.0	.	28	Q7Z6I5	SPT12_HUMAN	T	28	.	ENSP00000335392:R28T	R	+	2	0	SPATA12	57082845	0.001000	0.12720	0.017000	0.16124	0.003000	0.03518	0.472000	0.22116	0.166000	0.19597	-0.302000	0.09304	AGA		0.552	SPATA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352457.2	NM_181727		8	36	0	0	0	1	0	8	36				
FLT1	2321	broad.mit.edu	37	13	29001349	29001349	+	Missense_Mutation	SNP	T	T	G	rs151270578	byFrequency	TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr13:29001349T>G	ENST00000282397.4	-	10	1634	c.1383A>C	c.(1381-1383)caA>caC	p.Q461H	FLT1_ENST00000541932.1_Missense_Mutation_p.Q461H|FLT1_ENST00000539099.1_Missense_Mutation_p.Q461H	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	461	Ig-like C2-type 5.				blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGATTGTAGGTTGAGGGATAC	0.463													T|||	2	0.000399361	0.0	0.0	5008	,	,		20244	0.0		0.002	False		,,,				2504	0.0					ENST00000282397.4																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115						c.(1381-1383)caA>caC		fms-related tyrosine kinase 1	Sunitinib(DB01268)	T	HIS/GLN,HIS/GLN,HIS/GLN,HIS/GLN	2,4404	4.2+/-10.8	0,2,2201	175.0	154.0	161.0		1383,1383,1383,1383	-3.3	0.1	13	dbSNP_134	161	9,8591	7.1+/-27.0	0,9,4291	yes	missense,missense,missense,missense	FLT1	NM_001159920.1,NM_001160030.1,NM_001160031.1,NM_002019.4	24,24,24,24	0,11,6492	GG,GT,TT		0.1047,0.0454,0.0846	benign,benign,benign,benign	461/688,461/734,461/542,461/1339	29001349	11,12995	2203	4300	6503	SO:0001583	missense	2321				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	g.chr13:29001349T>G	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.1383A>C	13.37:g.29001349T>G	ENSP00000282397:p.Gln461His					FLT1_ENST00000541932.1_Missense_Mutation_p.Q461H|FLT1_ENST00000539099.1_Missense_Mutation_p.Q461H	p.Q461H	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	10	1634	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	461			Ig-like C2-type 5.		A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	ENST00000282397.4	37	c.1383A>C	CCDS9330.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	T	14.31	2.497027	0.44352	4.54E-4	0.001047	ENSG00000102755	ENST00000282397;ENST00000541932;ENST00000539099	T;T;T	0.35605	1.3;2.68;1.56	5.9	-3.3	0.05003	Immunoglobulin subtype (1);Tyrosine-protein kinase, vascular endothelial growth factor receptor (VEGFR), N-terminal (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.612865	0.16838	N	0.197454	T	0.36138	0.0956	L	0.47716	1.5	0.09310	N	1	P;P;P;P	0.51057	0.941;0.896;0.941;0.858	P;P;P;P	0.51229	0.652;0.652;0.652;0.663	T	0.36915	-0.9728	10	0.40728	T	0.16	.	11.7224	0.51689	0.1074:0.6079:0.0:0.2848	.	461;461;461;461	P17948-4;P17948-3;P17948-2;P17948	.;.;.;VGFR1_HUMAN	H	461	ENSP00000282397:Q461H;ENSP00000437631:Q461H;ENSP00000442630:Q461H	ENSP00000282397:Q461H	Q	-	3	2	FLT1	27899349	0.000000	0.05858	0.066000	0.19879	0.564000	0.35744	-2.474000	0.00988	-0.569000	0.06030	0.528000	0.53228	CAA		0.463	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1			4	67	0	0	0	1	0	4	67				
WDR49	151790	broad.mit.edu	37	3	167240192	167240192	+	Silent	SNP	T	T	C			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr3:167240192T>C	ENST00000308378.3	-	12	1934	c.1629A>G	c.(1627-1629)gaA>gaG	p.E543E	WDR49_ENST00000479765.1_Intron|WDR49_ENST00000476376.1_Silent_p.E368E|WDR49_ENST00000453925.2_Intron	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	543										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						ATAAAGAAATTTCCTTTTGAA	0.313																																						ENST00000308378.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						c.(1627-1629)gaA>gaG		WD repeat domain 49							81.0	84.0	83.0					3																	167240192		2203	4299	6502	SO:0001819	synonymous_variant	151790							g.chr3:167240192T>C	AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776		"""WD repeat domain containing"""	26587	protein-coding gene	gene with protein product						12477932	Standard	NM_178824		Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000308378.3:c.1629A>G	3.37:g.167240192T>C						WDR49_ENST00000479765.1_Intron|WDR49_ENST00000453925.2_Intron|WDR49_ENST00000476376.1_Silent_p.E368E	p.E543E	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN			12	1934	-			543					Q8N297	Silent	SNP	ENST00000308378.3	37	c.1629A>G	CCDS3201.1	.	.	.	.	.	.	.	.	.	.	T	0.082	-1.181894	0.01633	.	.	ENSG00000174776	ENST00000493061	.	.	.	5.23	2.64	0.31445	.	.	.	.	.	T	0.54581	0.1867	.	.	.	0.42919	D	0.994288	.	.	.	.	.	.	T	0.49570	-0.8926	4	.	.	.	.	6.2501	0.20842	0.1575:0.0:0.1634:0.679	.	.	.	.	R	115	.	.	K	-	2	0	WDR49	168722886	0.943000	0.32029	0.566000	0.28421	0.088000	0.18126	2.452000	0.44961	0.913000	0.36797	-0.321000	0.08615	AAA		0.313	WDR49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350592.3	NM_178824		8	43	0	0	0	1	0	8	43				
WIPI1	55062	broad.mit.edu	37	17	66423284	66423284	+	Missense_Mutation	SNP	G	G	A	rs200972573		TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr17:66423284G>A	ENST00000262139.5	-	11	1183	c.1184C>T	c.(1183-1185)aCg>aTg	p.T395M	WIPI1_ENST00000546360.1_Missense_Mutation_p.T313M|WIPI1_ENST00000589459.1_5'UTR|MIR635_ENST00000384830.1_RNA|RP11-120M18.2_ENST00000592030.1_RNA	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting 1	395					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|autophagy (GO:0006914)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|vesicle targeting, trans-Golgi to endosome (GO:0048203)	autophagic vacuole membrane (GO:0000421)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|pre-autophagosomal structure (GO:0000407)|pre-autophagosomal structure membrane (GO:0034045)|trans-Golgi network (GO:0005802)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						ACCTGGCACCGTGGAGGCTGA	0.567																																						ENST00000262139.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						c.(1183-1185)aCg>aTg		WD repeat domain, phosphoinositide interacting 1		G	MET/THR	0,4406		0,0,2203	232.0	179.0	197.0		1184	4.5	1.0	17		197	1,8599	1.2+/-3.3	0,1,4299	no	missense	WIPI1	NM_017983.5	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	395/447	66423284	1,13005	2203	4300	6503	SO:0001583	missense	55062				macroautophagy|vesicle targeting, trans-Golgi to endosome	autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network	androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding	g.chr17:66423284G>A		CCDS11677.1	17q24.2	2014-02-12				ENSG00000070540		"""WD repeat domain containing"""	25471	protein-coding gene	gene with protein product		609224				15020712, 15602573	Standard	NM_017983		Approved	FLJ10055, WIPI49, Atg18, ATG18A	uc010dey.3	Q5MNZ9		ENST00000262139.5:c.1184C>T	17.37:g.66423284G>A	ENSP00000262139:p.Thr395Met					RP11-120M18.2_ENST00000592030.1_RNA|WIPI1_ENST00000589459.1_5'UTR|WIPI1_ENST00000546360.1_Missense_Mutation_p.T313M	p.T395M	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN			11	1183	-			395					Q8IXM5|Q9NWF8	Missense_Mutation	SNP	ENST00000262139.5	37	c.1184C>T	CCDS11677.1	.	.	.	.	.	.	.	.	.	.	G	14.27	2.484301	0.44147	0.0	1.16E-4	ENSG00000070540	ENST00000262139;ENST00000546360	T;T	0.57273	0.82;0.41	5.53	4.54	0.55810	.	0.094754	0.64402	D	0.000001	T	0.50582	0.1624	M	0.72894	2.215	0.53688	D	0.999978	B	0.24768	0.111	B	0.20384	0.029	T	0.51996	-0.8634	10	0.54805	T	0.06	-13.2678	10.5311	0.44977	0.0719:0.135:0.7931:0.0	.	395	Q5MNZ9	WIPI1_HUMAN	M	395;313	ENSP00000262139:T395M;ENSP00000437345:T313M	ENSP00000262139:T395M	T	-	2	0	WIPI1	63934879	1.000000	0.71417	0.960000	0.40013	0.896000	0.52359	3.910000	0.56371	1.296000	0.44742	0.655000	0.94253	ACG		0.567	WIPI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448739.1	NM_017983		5	63	0	0	0	1	0	5	63				
NOL4	8715	broad.mit.edu	37	18	31599400	31599400	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr18:31599400G>A	ENST00000261592.5	-	6	1235	c.938C>T	c.(937-939)gCg>gTg	p.A313V	NOL4_ENST00000535475.1_Missense_Mutation_p.A158V|NOL4_ENST00000535384.1_Missense_Mutation_p.A28V|NOL4_ENST00000269185.4_Missense_Mutation_p.A199V|NOL4_ENST00000589544.1_Missense_Mutation_p.A313V|NOL4_ENST00000538587.1_Missense_Mutation_p.A239V	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	313						nucleolus (GO:0005730)	RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						AGTTAGCTGCGCAGAGAGGGG	0.473																																						ENST00000261592.5																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(937-939)gCg>gTg		nucleolar protein 4							177.0	152.0	160.0					18																	31599400		2203	4300	6503	SO:0001583	missense	8715					nucleolus	RNA binding	g.chr18:31599400G>A	AB017800	CCDS11907.2, CCDS56058.1, CCDS56059.1, CCDS59308.1	18q12	2010-05-04			ENSG00000101746	ENSG00000101746			7870	protein-coding gene	gene with protein product	"""cancer/testis antigen 125"""	603577				9813152	Standard	NM_003787		Approved	NOLP, HRIHFB2255, CT125	uc010dmi.3	O94818	OTTHUMG00000132291	ENST00000261592.5:c.938C>T	18.37:g.31599400G>A	ENSP00000261592:p.Ala313Val					NOL4_ENST00000535384.1_Missense_Mutation_p.A28V|NOL4_ENST00000538587.1_Missense_Mutation_p.A239V|NOL4_ENST00000535475.1_Missense_Mutation_p.A158V|NOL4_ENST00000269185.4_Missense_Mutation_p.A199V|NOL4_ENST00000589544.1_Missense_Mutation_p.A313V	p.A313V	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN			6	1235	-			313					B4DSQ0|B7Z3Z7|F5H1E3|Q6IBS2|Q9BWF1	Missense_Mutation	SNP	ENST00000261592.5	37	c.938C>T	CCDS11907.2	.	.	.	.	.	.	.	.	.	.	G	16.21	3.060129	0.55432	.	.	ENSG00000101746	ENST00000261592;ENST00000269185;ENST00000399171;ENST00000535384;ENST00000535475;ENST00000538587	D;D;D;D;D	0.84516	-1.86;-1.86;-1.86;-1.86;-1.86	5.75	5.75	0.90469	.	0.313238	0.31450	N	0.007623	D	0.88058	0.6335	L	0.39898	1.24	0.36284	D	0.855959	D;P;P;P;P;P;P;P	0.71674	0.998;0.901;0.854;0.733;0.519;0.854;0.938;0.733	P;B;B;B;B;B;B;B	0.62184	0.899;0.187;0.162;0.084;0.123;0.162;0.164;0.084	D	0.90593	0.4538	10	0.62326	D	0.03	-12.5903	15.4215	0.75015	0.0:0.1384:0.8616:0.0	.	199;62;28;239;313;28;313;158	B4DLW2;F8W825;B7Z3Z7;B4DSQ0;O94818;F5H1E3;O94818-2;B3KRF4	.;.;.;.;NOL4_HUMAN;.;.;.	V	313;199;62;28;158;239	ENSP00000261592:A313V;ENSP00000269185:A199V;ENSP00000445733:A28V;ENSP00000438190:A158V;ENSP00000443472:A239V	ENSP00000261592:A313V	A	-	2	0	NOL4	29853398	1.000000	0.71417	0.999000	0.59377	0.934000	0.57294	3.877000	0.56123	2.730000	0.93505	0.542000	0.68232	GCG		0.473	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255386.1	NM_003787		25	42	0	0	0	1	0	25	42				
CKMT1B	1159	broad.mit.edu	37	15	43891412	43891412	+	Missense_Mutation	SNP	C	C	T	rs377050601		TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr15:43891412C>T	ENST00000441322.1	+	9	1555	c.1195C>T	c.(1195-1197)Cgt>Tgt	p.R399C	CKMT1B_ENST00000300283.6_Missense_Mutation_p.R399C			P12532	KCRU_HUMAN	creatine kinase, mitochondrial 1B	399	Phosphagen kinase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00843}.				cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			large_intestine(1)|lung(3)|skin(1)	5		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)	Creatine(DB00148)	TTGTGAACGGCGTCTGGAGAG	0.498																																						ENST00000300283.6																			0				large_intestine(1)|lung(3)|skin(1)	5						c.(1195-1197)Cgt>Tgt		creatine kinase, mitochondrial 1B	Creatine(DB00148)	C	CYS/ARG	1,4399	2.1+/-5.4	0,1,2199	171.0	151.0	158.0		1195	4.0	1.0	15		158	0,8588		0,0,4294	no	missense	CKMT1B	NM_020990.3	180	0,1,6493	TT,TC,CC		0.0,0.0227,0.0077	benign	399/418	43891412	1,12987	2200	4294	6494	SO:0001583	missense	1159				creatine metabolic process	mitochondrial inner membrane	ATP binding|creatine kinase activity	g.chr15:43891412C>T	AK094322, J04469	CCDS10097.1	15q15	2005-04-15		2005-04-15	ENSG00000237289	ENSG00000237289	2.7.3.2		1995	protein-coding gene	gene with protein product		123290	"""creatine kinase, mitochondrial 1 (ubiquitous)"""	CKMT, CKMT1			Standard	XM_005254150		Approved	UMTCK	uc001zsc.3	P12532	OTTHUMG00000059900	ENST00000441322.1:c.1195C>T	15.37:g.43891412C>T	ENSP00000413255:p.Arg399Cys					CKMT1B_ENST00000441322.1_Missense_Mutation_p.R399C	p.R399C	NM_020990.3	NP_066270.1	P12532	KCRU_HUMAN		GBM - Glioblastoma multiforme(94;3.56e-07)	10	1587	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	399			Phosphagen kinase C-terminal.		B4DIT8|B7ZA09|Q0VAM3|Q32NF6|Q53FC4	Missense_Mutation	SNP	ENST00000441322.1	37	c.1195C>T	CCDS10097.1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.298472	0.60195	2.27E-4	0.0	ENSG00000237289	ENST00000300283;ENST00000441322	T;T	0.12255	2.7;2.7	4.03	4.03	0.46877	ATP:guanido phosphotransferase, catalytic domain (2);Glutamine synthetase/guanido kinase, catalytic domain (1);	0.156324	0.53938	D	0.000043	T	0.23094	0.0558	M	0.82517	2.595	0.80722	D	1	P;B	0.38195	0.622;0.394	B;B	0.37480	0.251;0.048	T	0.21415	-1.0246	10	0.72032	D	0.01	1.9794	15.6816	0.77373	0.0:1.0:0.0:0.0	.	430;399	P12532-2;P12532	.;KCRU_HUMAN	C	399	ENSP00000300283:R399C;ENSP00000413255:R399C	ENSP00000300283:R399C	R	+	1	0	CKMT1B	41678704	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	2.428000	0.44749	2.247000	0.74100	0.313000	0.20887	CGT		0.498	CKMT1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133147.2	NM_020990		10	119	0	0	0	1	0	10	119				
HEATR6	63897	broad.mit.edu	37	17	58123500	58123500	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr17:58123500C>G	ENST00000184956.6	-	19	2876	c.2860G>C	c.(2860-2862)Gag>Cag	p.E954Q	HEATR6_ENST00000585976.1_Missense_Mutation_p.E842Q	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	954							poly(A) RNA binding (GO:0044822)	p.E954Q(1)		NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			ATAGACTCCTCAATGATTTCT	0.393																																						ENST00000184956.6																			1	Substitution - Missense(1)	p.E954Q(1)	NS(1)	NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(2860-2862)Gag>Cag		HEAT repeat containing 6							105.0	106.0	106.0					17																	58123500		2203	4300	6503	SO:0001583	missense	63897						binding	g.chr17:58123500C>G	BX640819	CCDS11623.1	17q23.2	2007-05-01				ENSG00000068097			24076	protein-coding gene	gene with protein product	"""amplified in breast cancer 1"""					12755490	Standard	NM_022070		Approved	ABC1, FLJ22087	uc002iyk.1	Q6AI08		ENST00000184956.6:c.2860G>C	17.37:g.58123500C>G	ENSP00000184956:p.Glu954Gln					HEATR6_ENST00000585976.1_Missense_Mutation_p.E842Q	p.E954Q	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)		19	2876	-	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		954					B3KXP3|Q6MZX1|Q6MZY2|Q8TDM9|Q9H6B3|Q9H6M7	Missense_Mutation	SNP	ENST00000184956.6	37	c.2860G>C	CCDS11623.1	.	.	.	.	.	.	.	.	.	.	C	16.96	3.265527	0.59431	.	.	ENSG00000068097	ENST00000184956;ENST00000393017	T	0.67865	-0.29	5.44	5.44	0.79542	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.71978	0.3404	L	0.35542	1.07	0.26692	N	0.971338	B;D	0.71674	0.197;0.998	B;D	0.62955	0.08;0.909	T	0.63812	-0.6552	10	0.25106	T	0.35	-18.7067	18.7064	0.91640	0.0:1.0:0.0:0.0	.	689;954	E7ESB9;Q6AI08	.;HEAT6_HUMAN	Q	954;689	ENSP00000184956:E954Q	ENSP00000184956:E954Q	E	-	1	0	HEATR6	55478282	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.789000	0.55454	2.740000	0.93945	0.650000	0.86243	GAG		0.393	HEATR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449165.1	NM_022070		7	82	0	0	0	1	0	7	82				
VSTM1	284415	broad.mit.edu	37	19	54545598	54545598	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr19:54545598G>C	ENST00000338372.2	-	5	595	c.420C>G	c.(418-420)atC>atG	p.I140M	VSTM1_ENST00000376626.1_Intron|VSTM1_ENST00000366170.2_Missense_Mutation_p.I52M|VSTM1_ENST00000425006.2_3'UTR	NM_198481.3	NP_940883.2	Q6UX27	VSTM1_HUMAN	V-set and transmembrane domain containing 1	140					immune system process (GO:0002376)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)		TGCAGCTGAAGATGGCGACAA	0.542																																						ENST00000338372.2																			0				breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(418-420)atC>atG		V-set and transmembrane domain containing 1							94.0	75.0	82.0					19																	54545598		2203	4300	6503	SO:0001583	missense	284415					integral to membrane		g.chr19:54545598G>C	AY358542	CCDS12872.1, CCDS74441.1, CCDS74442.1	19q13.42	2013-01-11			ENSG00000189068	ENSG00000189068		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29455	protein-coding gene	gene with protein product						12975309	Standard	NM_198481		Approved	UNQ3033	uc002qcw.4	Q6UX27	OTTHUMG00000064906	ENST00000338372.2:c.420C>G	19.37:g.54545598G>C	ENSP00000343366:p.Ile140Met					VSTM1_ENST00000376626.1_Intron|VSTM1_ENST00000366170.2_Missense_Mutation_p.I52M|VSTM1_ENST00000425006.2_3'UTR	p.I140M	NM_198481.3	NP_940883.2	Q6UX27	VSTM1_HUMAN		GBM - Glioblastoma multiforme(134;0.165)	5	595	-	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)		140					B6A8C6|D2DJS3|D2DJS4|Q496B6|Q496B7	Missense_Mutation	SNP	ENST00000338372.2	37	c.420C>G	CCDS12872.1	.	.	.	.	.	.	.	.	.	.	G	7.140	0.581668	0.13749	.	.	ENSG00000189068	ENST00000338372;ENST00000366170	T;T	0.48522	6.61;0.81	3.58	0.0284	0.14158	.	.	.	.	.	T	0.22704	0.0548	N	0.22421	0.69	0.09310	N	1	P	0.42941	0.794	B	0.28784	0.094	T	0.13255	-1.0516	9	0.52906	T	0.07	-7.78	3.6733	0.08283	0.2519:0.2034:0.5447:0.0	.	140	Q6UX27	VSTM1_HUMAN	M	140;52	ENSP00000343366:I140M;ENSP00000444153:I52M	ENSP00000343366:I140M	I	-	3	3	VSTM1	59237410	0.546000	0.26457	0.005000	0.12908	0.003000	0.03518	0.432000	0.21461	0.115000	0.18071	-0.169000	0.13324	ATC		0.542	VSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139358.3	NM_198481		3	23	0	0	0	1	0	3	23				
RELN	5649	broad.mit.edu	37	7	103155722	103155722	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr7:103155722C>T	ENST00000428762.1	-	50	8188	c.8029G>A	c.(8029-8031)Gcc>Acc	p.A2677T	RELN_ENST00000424685.2_Missense_Mutation_p.A2677T|RELN_ENST00000343529.5_Missense_Mutation_p.A2677T|CTB-107G13.1_ENST00000422488.1_RNA	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2677					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GGTACTGGGGCGCTGCTGAAG	0.542																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000428762.1																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(8029-8031)Gcc>Acc		reelin							52.0	46.0	48.0					7																	103155722		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103155722C>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.8029G>A	7.37:g.103155722C>T	ENSP00000392423:p.Ala2677Thr					RELN_ENST00000424685.2_Missense_Mutation_p.A2677T|RELN_ENST00000343529.5_Missense_Mutation_p.A2677T	p.A2677T	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	50	8188	-			2677					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.8029G>A	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	34	5.368930	0.95900	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000424828;ENST00000448171	T;T;T	0.23348	1.91;1.91;1.91	5.26	5.26	0.73747	Neuraminidase (2);	0.227438	0.45126	D	0.000395	T	0.25306	0.0615	L	0.29908	0.895	0.51233	D	0.99991	P;P	0.51653	0.947;0.835	P;B	0.44597	0.454;0.356	T	0.01062	-1.1464	10	0.37606	T	0.19	.	19.0725	0.93145	0.0:1.0:0.0:0.0	.	2677;2677	P78509-2;P78509	.;RELN_HUMAN	T	2677;2677;2677;194;2677	ENSP00000392423:A2677T;ENSP00000345694:A2677T;ENSP00000388446:A2677T	ENSP00000345694:A2677T	A	-	1	0	RELN	102942958	1.000000	0.71417	0.978000	0.43139	0.996000	0.88848	5.450000	0.66626	2.727000	0.93392	0.643000	0.83706	GCC		0.542	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		19	25	0	0	0	1	0	19	25				
KPRP	448834	broad.mit.edu	37	1	152733428	152733428	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr1:152733428G>C	ENST00000606109.1	+	1	1392	c.1364G>C	c.(1363-1365)tGt>tCt	p.C455S	KPRP_ENST00000368773.1_Missense_Mutation_p.C455S			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	455	Pro-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.C455Y(1)		NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCAGGGCAGTGTGAGATTCCA	0.612																																						ENST00000368773.1																			1	Substitution - Missense(1)	p.C455Y(1)	lung(1)	NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1363-1365)tGt>tCt		keratinocyte proline-rich protein							143.0	142.0	142.0					1																	152733428		2203	4300	6503	SO:0001583	missense	448834					cytoplasm		g.chr1:152733428G>C	AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"""chromosome 1 open reading frame 45"""	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.1364G>C	1.37:g.152733428G>C	ENSP00000475216:p.Cys455Ser					KPRP_ENST00000606109.1_Missense_Mutation_p.C455S	p.C455S	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	1422	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		455			Pro-rich.			Missense_Mutation	SNP	ENST00000606109.1	37	c.1364G>C	CCDS30862.1	.	.	.	.	.	.	.	.	.	.	G	14.79	2.639506	0.47153	.	.	ENSG00000203786	ENST00000368773	T	0.21031	2.03	4.61	3.67	0.42095	.	0.136972	0.34507	N	0.003907	T	0.05731	0.0150	L	0.48642	1.525	0.09310	N	1	P	0.36535	0.557	B	0.39258	0.295	T	0.25984	-1.0116	10	0.09084	T	0.74	-4.8279	5.7337	0.18055	0.0982:0.0:0.7064:0.1955	.	455	Q5T749	KPRP_HUMAN	S	455	ENSP00000357762:C455S	ENSP00000357762:C455S	C	+	2	0	KPRP	151000052	0.030000	0.19436	0.028000	0.17463	0.302000	0.27658	1.995000	0.40767	1.254000	0.44035	0.462000	0.41574	TGT		0.612	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231		14	95	0	0	0	1	0	14	95				
MRPL3	11222	broad.mit.edu	37	3	131219333	131219333	+	Silent	SNP	G	G	A			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr3:131219333G>A	ENST00000264995.3	-	3	457	c.310C>T	c.(310-312)Ctg>Ttg	p.L104L	MRPL3_ENST00000425847.2_Silent_p.L131L|MRPL3_ENST00000506946.1_5'Flank	NM_007208.3	NP_009139.1	P09001	RM03_HUMAN	mitochondrial ribosomal protein L3	104					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						ATCATGCCCAGCTTCAAGGCA	0.388																																						ENST00000264995.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						c.(310-312)Ctg>Ttg		mitochondrial ribosomal protein L3							118.0	98.0	104.0					3																	131219333		2203	4300	6503	SO:0001819	synonymous_variant	11222				translation	mitochondrial large ribosomal subunit	RNA binding|structural constituent of ribosome	g.chr3:131219333G>A	X06323	CCDS3071.1	3q21-q23	2012-09-13			ENSG00000114686	ENSG00000114686		"""Mitochondrial ribosomal proteins / large subunits"""	10379	protein-coding gene	gene with protein product		607118		RPML3		2891103	Standard	NM_007208		Approved	MRL3	uc003eoh.3	P09001	OTTHUMG00000159607	ENST00000264995.3:c.310C>T	3.37:g.131219333G>A						MRPL3_ENST00000425847.2_Silent_p.L131L	p.L104L	NM_007208.3	NP_009139.1	P09001	RM03_HUMAN			3	457	-			104					Q6IBT2	Silent	SNP	ENST00000264995.3	37	c.310C>T	CCDS3071.1	.	.	.	.	.	.	.	.	.	.	G	8.815	0.936184	0.18206	.	.	ENSG00000114686	ENST00000511168	.	.	.	5.63	3.58	0.41010	.	.	.	.	.	T	0.52885	0.1762	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49652	-0.8917	4	.	.	.	-9.1795	4.8863	0.13704	0.3968:0.0:0.6032:0.0	.	.	.	.	V	118	.	.	A	-	2	0	MRPL3	132702023	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	1.900000	0.39828	1.376000	0.46267	0.561000	0.74099	GCT		0.388	MRPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356471.3	NM_007208		4	67	0	0	0	1	0	4	67				
TMC5	79838	broad.mit.edu	37	16	19460863	19460863	+	Splice_Site	SNP	G	G	A			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr16:19460863G>A	ENST00000396229.2	+	5	1707		c.e5-1		TMC5_ENST00000381414.4_Splice_Site|TMC5_ENST00000542583.2_Splice_Site|TMC5_ENST00000541464.1_Splice_Site	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5						ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CTTCCCTCCAGTGAACCCTGC	0.458																																						ENST00000396229.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						c.e5-1		transmembrane channel-like 5							208.0	204.0	206.0					16																	19460863		2004	4188	6192	SO:0001630	splice_region_variant	79838					integral to membrane		g.chr16:19460863G>A	AY263164	CCDS10577.1, CCDS42126.1, CCDS45431.1	16p13.11	2008-02-05			ENSG00000103534	ENSG00000103534			22999	protein-coding gene	gene with protein product						12812529, 12906855	Standard	NM_024780		Approved	FLJ13593	uc010var.2	Q6UXY8	OTTHUMG00000131458	ENST00000396229.2:c.959-1G>A	16.37:g.19460863G>A						TMC5_ENST00000542583.2_Splice_Site|TMC5_ENST00000541464.1_Splice_Site|TMC5_ENST00000381414.4_Splice_Site		NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN			5	1707	+								Q68DK8|Q8IY20|Q8NHV6|Q9H8I7	Splice_Site	SNP	ENST00000396229.2	37		CCDS45431.1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.946206	0.53079	.	.	ENSG00000103534	ENST00000541464;ENST00000381414;ENST00000396229;ENST00000542583	.	.	.	4.71	4.71	0.59529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3525	0.60609	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TMC5	19368364	1.000000	0.71417	0.998000	0.56505	0.649000	0.38597	4.150000	0.58098	2.610000	0.88304	0.609000	0.83330	.		0.458	TMC5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435888.1	NM_024780	Intron	35	70	0	0	0	1	0	35	70				
ASIC3	9311	broad.mit.edu	37	7	150746472	150746472	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr7:150746472G>A	ENST00000349064.5	+	1	698	c.500G>A	c.(499-501)cGt>cAt	p.R167H	ASIC3_ENST00000297512.8_Missense_Mutation_p.R167H|ASIC3_ENST00000357922.4_Missense_Mutation_p.R167H	NM_004769.3|NM_020321.3	NP_004760.1|NP_064717.1	Q9UHC3	ASIC3_HUMAN	acid-sensing (proton-gated) ion channel 3	167					cation transmembrane transport (GO:0098655)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ion transmembrane transport (GO:0034220)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|response to heat (GO:0009408)|sensory perception (GO:0007600)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|enterobactin transporter activity (GO:0042931)|ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)										TGTCGCTTCCGTGGCCAACCT	0.637																																						ENST00000357922.4																			0											c.(499-501)cGt>cAt		acid-sensing (proton-gated) ion channel 3							76.0	76.0	76.0					7																	150746472		2203	4300	6503	SO:0001583	missense	9311				sensory perception|signal transduction	cytoplasm|integral to plasma membrane	ligand-gated sodium channel activity	g.chr7:150746472G>A	AB010575	CCDS5914.1, CCDS5915.1, CCDS5916.1	7q35	2012-02-23	2012-02-22	2012-02-22	ENSG00000213199	ENSG00000213199		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	101	protein-coding gene	gene with protein product	"""testis sodium channel 1"""	611741	"""amiloride-sensitive cation channel 3, testis"", ""amiloride-sensitive cation channel 3"""	ACCN3		9571199, 9744806	Standard	NM_004769		Approved	TNaC1, DRASIC	uc003wio.3	Q9UHC3	OTTHUMG00000158685	ENST00000349064.5:c.500G>A	7.37:g.150746472G>A	ENSP00000344838:p.Arg167His					ASIC3_ENST00000297512.8_Missense_Mutation_p.R167H|ASIC3_ENST00000349064.5_Missense_Mutation_p.R167H	p.R167H	NM_020322.3	NP_064718.1	Q9UHC3	ACCN3_HUMAN			1	1094	+			167					B2R9V0|O60263|O75906|Q59FN9|Q9UER8|Q9UHC4	Missense_Mutation	SNP	ENST00000349064.5	37	c.500G>A	CCDS5916.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.653115	0.88056	.	.	ENSG00000213199	ENST00000357922;ENST00000349064;ENST00000297512	T;T;T	0.65549	-0.16;-0.16;-0.16	5.29	5.29	0.74685	.	0.000000	0.33075	U	0.005318	T	0.78149	0.4238	M	0.72479	2.2	0.44843	D	0.99785	P;D;D	0.89917	0.921;0.987;1.0	B;P;D	0.83275	0.304;0.572;0.996	T	0.77466	-0.2577	10	0.44086	T	0.13	-4.4134	16.7985	0.85608	0.0:0.0:1.0:0.0	.	167;167;167	Q9UHC3-2;Q9UHC3-3;Q9UHC3	.;.;ACCN3_HUMAN	H	167	ENSP00000350600:R167H;ENSP00000344838:R167H;ENSP00000297512:R167H	ENSP00000297512:R167H	R	+	2	0	ACCN3	150377405	1.000000	0.71417	0.971000	0.41717	0.591000	0.36615	4.099000	0.57755	2.651000	0.90000	0.561000	0.74099	CGT		0.637	ASIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351725.1	NM_004769		10	63	0	0	0	1	0	10	63				
RABGAP1L	9910	broad.mit.edu	37	1	174188383	174188383	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr1:174188383C>T	ENST00000251507.4	+	2	262	c.88C>T	c.(88-90)Cag>Tag	p.Q30*	RABGAP1L_ENST00000357444.6_Intron|RABGAP1L_ENST00000367689.3_Intron	NM_014857.4	NP_055672.3	B7ZAP0	RBG10_HUMAN	RAB GTPase activating protein 1-like	0										NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						TTTGGTTCCTCAGTATGCAGA	0.318																																						ENST00000251507.4																			0				NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						c.(88-90)Cag>Tag		RAB GTPase activating protein 1-like							103.0	93.0	96.0					1																	174188383		2203	4300	6503	SO:0001587	stop_gained	9910				regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity	g.chr1:174188383C>T	AF279778	CCDS1314.1, CCDS41437.1, CCDS55662.1, CCDS58046.1	1q24	2011-11-21			ENSG00000152061	ENSG00000152061			24663	protein-coding gene	gene with protein product		609238				10585558	Standard	NM_014857		Approved	HHL, TBC1D18, KIAA0471, FLJ38519	uc001gjx.3	B7ZAP0	OTTHUMG00000034899	ENST00000251507.4:c.88C>T	1.37:g.174188383C>T	ENSP00000251507:p.Gln30*					RABGAP1L_ENST00000357444.6_Intron|RABGAP1L_ENST00000367689.3_Intron	p.Q30*	NM_014857.4	NP_055672.3	Q5R372	RBG1L_HUMAN			2	262	+			30					B7ZAA4	Nonsense_Mutation	SNP	ENST00000251507.4	37	c.88C>T	CCDS1314.1	.	.	.	.	.	.	.	.	.	.	C	35	5.417984	0.96092	.	.	ENSG00000152061	ENST00000251507;ENST00000457696;ENST00000367692	.	.	.	5.03	5.03	0.67393	.	0.091150	0.46145	D	0.000318	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	.	15.8599	0.79014	0.0:1.0:0.0:0.0	.	.	.	.	X	30	.	ENSP00000251507:Q30X	Q	+	1	0	RABGAP1L	172455006	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.898000	0.63238	2.344000	0.79699	0.467000	0.42956	CAG		0.318	RABGAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084497.1	NM_001243765		7	47	0	0	0	1	0	7	47				
ABTB1	80325	broad.mit.edu	37	3	127396078	127396078	+	Silent	SNP	C	C	T			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr3:127396078C>T	ENST00000232744.8	+	8	797	c.711C>T	c.(709-711)ctC>ctT	p.L237L	ABTB1_ENST00000453791.2_Silent_p.L95L|ABTB1_ENST00000393363.3_Silent_p.L95L|ABTB1_ENST00000468137.1_Silent_p.L95L					ankyrin repeat and BTB (POZ) domain containing 1											central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						ACCCCCGCCTCCGGGAGGACA	0.667																																						ENST00000468137.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						c.(283-285)ctC>ctT		ankyrin repeat and BTB (POZ) domain containing 1							23.0	21.0	22.0					3																	127396078		2198	4297	6495	SO:0001819	synonymous_variant	80325					cytoplasm|nucleolus|plasma membrane	translation elongation factor activity	g.chr3:127396078C>T	AB053324	CCDS3045.1, CCDS46901.1	3q21	2013-01-10			ENSG00000114626	ENSG00000114626		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	18275	protein-coding gene	gene with protein product		608308				10891360, 11494141	Standard	NM_172027		Approved	BPOZ, EF1ABP, Btb3, BTBD21	uc003ejt.3	Q969K4	OTTHUMG00000159636	ENST00000232744.8:c.711C>T	3.37:g.127396078C>T						ABTB1_ENST00000453791.2_Silent_p.L95L|ABTB1_ENST00000232744.8_Silent_p.L237L|ABTB1_ENST00000393363.3_Silent_p.L95L	p.L95L			Q969K4	ABTB1_HUMAN			7	901	+			237						Silent	SNP	ENST00000232744.8	37	c.285C>T	CCDS3045.1																																																																																				0.667	ABTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356595.1	NM_172027		3	14	0	0	0	1	0	3	14				
NEK2	4751	broad.mit.edu	37	1	211840550	211840550	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr1:211840550G>A	ENST00000366999.4	-	7	1147	c.1009C>T	c.(1009-1011)Cgt>Tgt	p.R337C	NEK2_ENST00000540251.1_Missense_Mutation_p.R294C|NEK2_ENST00000462283.1_5'UTR|NEK2_ENST00000366998.3_Missense_Mutation_p.R337C	NM_002497.3	NP_002488.1	P51955	NEK2_HUMAN	NIMA-related kinase 2	337	Interaction with PCNT.|Necessary for interaction with MAD1L1.|Required for microtubule binding and for localization to the centrosomes.				blastocyst development (GO:0001824)|centrosome separation (GO:0051299)|chromosome segregation (GO:0007059)|G2/M transition of mitotic cell cycle (GO:0000086)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of centriole-centriole cohesion (GO:1903126)|negative regulation of DNA binding (GO:0043392)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of mitosis (GO:0007088)|regulation of mitotic centrosome separation (GO:0046602)|spindle assembly (GO:0051225)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|microtubule (GO:0005874)|midbody (GO:0030496)|nucleus (GO:0005634)|protein complex (GO:0043234)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|stomach(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.00203)|all cancers(67;0.0339)|Epithelial(68;0.0546)		AGTCTCTCACGAACACAAAGC	0.378																																						ENST00000366999.4																			0				breast(2)|stomach(1)	3						c.(1009-1011)Cgt>Tgt		NIMA-related kinase 2							120.0	122.0	122.0					1																	211840550		2203	4300	6503	SO:0001583	missense	4751				cell division|centrosome separation|G2/M transition of mitotic cell cycle|meiosis|protein autophosphorylation|regulation of mitosis	centrosome|condensed chromosome kinetochore|cytosol|nucleolus	ATP binding|metal ion binding|protein binding|protein phosphatase binding|protein serine/threonine kinase activity	g.chr1:211840550G>A	U11050	CCDS1500.1, CCDS55682.1, CCDS73024.1	1q32.3	2014-06-12	2012-11-15		ENSG00000117650	ENSG00000117650			7745	protein-coding gene	gene with protein product	"""HsPK 21"", ""protein phosphatase 1, regulatory subunit 111"""	604043	"""NIMA (never in mitosis gene a)-related kinase 2"""			8274451, 24043777	Standard	NM_002497		Approved	NLK1, NEK2A, RP67, PPP1R111	uc001hir.2	P51955	OTTHUMG00000037121	ENST00000366999.4:c.1009C>T	1.37:g.211840550G>A	ENSP00000355966:p.Arg337Cys					NEK2_ENST00000366998.3_Missense_Mutation_p.R337C|NEK2_ENST00000540251.1_Missense_Mutation_p.R294C|NEK2_ENST00000462283.1_5'UTR	p.R337C	NM_002497.3	NP_002488.1	P51955	NEK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00203)|all cancers(67;0.0339)|Epithelial(68;0.0546)	7	1147	-			337			Interaction with PCNT.|Necessary for interaction with MAD1L1.|Required for microtubule binding and for localization to the centrosomes.		Q53FD6|Q5I1Z9|Q5VXZ1|Q6NZX8|Q7Z634|Q86XH2|Q96QN9	Missense_Mutation	SNP	ENST00000366999.4	37	c.1009C>T	CCDS1500.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.581733	0.86748	.	.	ENSG00000117650	ENST00000366999;ENST00000540251;ENST00000366998	T;T;T	0.54479	0.57;0.57;0.57	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.70422	0.3222	M	0.63843	1.955	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76071	0.975;0.973;0.987	T	0.73385	-0.3999	10	0.87932	D	0	.	17.1161	0.86689	0.0:0.0:1.0:0.0	.	337;337;337	P51955-2;P51955;P51955-4	.;NEK2_HUMAN;.	C	337;294;337	ENSP00000355966:R337C;ENSP00000440237:R294C;ENSP00000355965:R337C	ENSP00000355965:R337C	R	-	1	0	NEK2	209907173	1.000000	0.71417	0.969000	0.41365	0.968000	0.65278	6.225000	0.72271	2.538000	0.85594	0.650000	0.86243	CGT		0.378	NEK2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090154.1	NM_002497		7	98	0	0	0	1	0	7	98				
LMAN1L	79748	broad.mit.edu	37	15	75113085	75113085	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr15:75113085C>G	ENST00000309664.5	+	8	1023	c.884C>G	c.(883-885)tCa>tGa	p.S295*	LMAN1L_ENST00000379709.3_Nonsense_Mutation_p.S283*|RP11-414J4.2_ENST00000564823.1_RNA	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	295						integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ACTCCAAAATCAGACTCTGAA	0.612																																						ENST00000309664.5																			0				NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(883-885)tCa>tGa		lectin, mannose-binding, 1 like							76.0	76.0	76.0					15																	75113085		2197	4296	6493	SO:0001587	stop_gained	79748					ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding	g.chr15:75113085C>G	AF303398	CCDS10270.1	15q24.1	2005-08-05			ENSG00000140506	ENSG00000140506			6632	protein-coding gene	gene with protein product		609548				11255007	Standard	NM_021819		Approved	ERGL, ERGIC-53L	uc002ayt.1	Q9HAT1	OTTHUMG00000142813	ENST00000309664.5:c.884C>G	15.37:g.75113085C>G	ENSP00000310431:p.Ser295*					LMAN1L_ENST00000379709.3_Nonsense_Mutation_p.S283*	p.S295*	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN			8	1023	+			295					Q6UWN2	Nonsense_Mutation	SNP	ENST00000309664.5	37	c.884C>G	CCDS10270.1	.	.	.	.	.	.	.	.	.	.	C	14.63	2.592791	0.46214	.	.	ENSG00000140506	ENST00000309664;ENST00000379709	.	.	.	4.44	-1.68	0.08212	.	2.791810	0.01167	N	0.006767	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	4.1513	0.10238	0.1603:0.4404:0.0:0.3993	.	.	.	.	X	295;283	.	ENSP00000310431:S295X	S	+	2	0	LMAN1L	72900138	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.643000	0.05421	-0.423000	0.07394	0.555000	0.69702	TCA		0.612	LMAN1L-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286397.4			7	54	0	0	0	1	0	7	54				
BEND2	139105	broad.mit.edu	37	X	18192182	18192182	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chrX:18192182G>T	ENST00000380033.4	-	12	2081	c.1949C>A	c.(1948-1950)aCt>aAt	p.T650N	BEND2_ENST00000380030.3_Missense_Mutation_p.T559N	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	650										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						TGGATTATCAGTGGAAGGTTC	0.378																																						ENST00000380033.4																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						c.(1948-1950)aCt>aAt		BEN domain containing 2							107.0	82.0	91.0					X																	18192182		2203	4300	6503	SO:0001583	missense	139105							g.chrX:18192182G>T	AK128155	CCDS14184.1, CCDS55375.1	Xp22.22	2012-11-22	2008-10-03	2008-10-03	ENSG00000177324	ENSG00000177324		"""BEN domain containing"""	28509	protein-coding gene	gene with protein product			"""chromosome X open reading frame 20"""	CXorf20		12477932	Standard	NM_153346		Approved	MGC33653	uc004cyj.4	Q8NDZ0	OTTHUMG00000021211	ENST00000380033.4:c.1949C>A	X.37:g.18192182G>T	ENSP00000369372:p.Thr650Asn					BEND2_ENST00000380030.3_Missense_Mutation_p.T559N	p.T650N	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN			12	2081	-			650					E9PFY2|Q4V9S2|Q5JXE5	Missense_Mutation	SNP	ENST00000380033.4	37	c.1949C>A	CCDS14184.1	.	.	.	.	.	.	.	.	.	.	G	14.74	2.625013	0.46840	.	.	ENSG00000177324	ENST00000380033;ENST00000380030	T;T	0.28895	1.59;1.62	4.78	-6.7	0.01766	.	1.869970	0.02586	N	0.099436	T	0.16428	0.0395	L	0.27053	0.805	0.09310	N	1	B;B	0.26081	0.141;0.141	B;B	0.20767	0.031;0.031	T	0.07927	-1.0747	10	0.40728	T	0.16	0.0464	1.4559	0.02385	0.1555:0.2824:0.1777:0.3844	.	559;650	E9PFY2;Q8NDZ0	.;BEND2_HUMAN	N	650;559	ENSP00000369372:T650N;ENSP00000369369:T559N	ENSP00000369369:T559N	T	-	2	0	BEND2	18102103	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.002000	0.03686	-1.558000	0.01690	0.544000	0.68410	ACT		0.378	BEND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055940.1	NM_153346		4	26	1	0	0.184627	1	0.186048	4	26				
CXCR2	3579	broad.mit.edu	37	2	218999925	218999925	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr2:218999925T>A	ENST00000318507.2	+	3	828	c.401T>A	c.(400-402)aTc>aAc	p.I134N		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	134					cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|inflammatory response (GO:0006954)|interleukin-8-mediated signaling pathway (GO:0038112)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	C-X-C chemokine receptor activity (GO:0016494)|interleukin-8 binding (GO:0019959)|interleukin-8 receptor activity (GO:0004918)|signal transducer activity (GO:0004871)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						TATAGTGGCATCCTGCTACTG	0.527																																						ENST00000318507.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						c.(400-402)aTc>aAc		chemokine (C-X-C motif) receptor 2							130.0	115.0	120.0					2																	218999925		2203	4300	6503	SO:0001583	missense	3579				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity	g.chr2:218999925T>A	U11869	CCDS2408.1	2q35	2012-08-08	2009-11-25	2009-11-25	ENSG00000180871	ENSG00000180871		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"", ""Interleukins and interleukin receptors"""	6027	protein-coding gene	gene with protein product		146928	"""interleukin 8 receptor, beta"""	IL8RB		1427896	Standard	NM_001557		Approved	CMKAR2, CD182	uc002vha.2	P25025	OTTHUMG00000133107	ENST00000318507.2:c.401T>A	2.37:g.218999925T>A	ENSP00000319635:p.Ile134Asn						p.I134N	NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN			3	828	+			134					Q8IUZ1|Q9P2T6|Q9P2T7	Missense_Mutation	SNP	ENST00000318507.2	37	c.401T>A	CCDS2408.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.099036	0.76870	.	.	ENSG00000180871	ENST00000453237;ENST00000415392;ENST00000318507;ENST00000454148;ENST00000428565	T;T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04;-1.04	4.91	4.91	0.64330	GPCR, rhodopsin-like superfamily (1);	0.233124	0.40469	N	0.001098	D	0.90352	0.6981	M	0.93241	3.395	0.38567	D	0.949853	D	0.76494	0.999	D	0.74348	0.983	D	0.93617	0.6944	10	0.87932	D	0	.	13.8697	0.63610	0.0:0.0:0.0:1.0	.	134	P25025	CXCR2_HUMAN	N	134	ENSP00000413686:I134N;ENSP00000392348:I134N;ENSP00000319635:I134N;ENSP00000415148:I134N;ENSP00000392698:I134N	ENSP00000319635:I134N	I	+	2	0	CXCR2	218708170	1.000000	0.71417	0.410000	0.26471	0.949000	0.60115	7.877000	0.87225	1.981000	0.57761	0.374000	0.22700	ATC		0.527	CXCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256772.2	NM_001557		4	55	0	0	0	1	0	4	55				
KCNH4	23415	broad.mit.edu	37	17	40330439	40330439	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr17:40330439C>G	ENST00000264661.3	-	3	699	c.367G>C	c.(367-369)Gtc>Ctc	p.V123L	KCNH4_ENST00000607371.1_Missense_Mutation_p.V123L	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	123	PAC. {ECO:0000255|PROSITE- ProRule:PRU00141}.				potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		AACAGCACGACCTCCCCCATC	0.572																																					NSCLC(117;707 1703 2300 21308 31858)	ENST00000264661.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32						c.(367-369)Gtc>Ctc		potassium voltage-gated channel, subfamily H (eag-related), member 4							59.0	49.0	52.0					17																	40330439		2203	4300	6503	SO:0001583	missense	23415				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity	g.chr17:40330439C>G	AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.367G>C	17.37:g.40330439C>G	ENSP00000264661:p.Val123Leu					KCNH4_ENST00000607371.1_Missense_Mutation_p.V123L	p.V123L	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	3	699	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)	123			PAC.			Missense_Mutation	SNP	ENST00000264661.3	37	c.367G>C	CCDS11420.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.735386	0.89482	.	.	ENSG00000089558	ENST00000264661	D	0.99578	-6.21	4.99	4.99	0.66335	PAS-associated, C-terminal (1);PAS fold-3 (1);PAS (1);	0.000000	0.36854	N	0.002366	D	0.99143	0.9704	L	0.44542	1.39	0.52501	D	0.999956	P	0.38335	0.627	P	0.49829	0.623	D	0.99880	1.1111	10	0.87932	D	0	.	18.4676	0.90761	0.0:1.0:0.0:0.0	.	123	Q9UQ05	KCNH4_HUMAN	L	123	ENSP00000264661:V123L	ENSP00000264661:V123L	V	-	1	0	KCNH4	37583965	1.000000	0.71417	0.990000	0.47175	0.968000	0.65278	5.835000	0.69368	2.584000	0.87258	0.563000	0.77884	GTC		0.572	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2	NM_012285		6	32	0	0	0	1	0	6	32				
CAPSL	133690	broad.mit.edu	37	5	35910084	35910084	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr5:35910084G>A	ENST00000397367.2	-	4	535	c.409C>T	c.(409-411)Cgt>Tgt	p.R137C	CAPSL_ENST00000397366.1_Missense_Mutation_p.R137C|CAPSL_ENST00000514524.1_Missense_Mutation_p.R137C	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	137	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.					cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			TATACTTCACGAAGGTCTTCG	0.393																																						ENST00000397367.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19						c.(409-411)Cgt>Tgt		calcyphosine-like							192.0	187.0	189.0					5																	35910084		2203	4300	6503	SO:0001583	missense	133690					cytoplasm	calcium ion binding	g.chr5:35910084G>A	BC017586	CCDS3912.2	5p13.2	2013-01-10			ENSG00000152611	ENSG00000152611		"""EF-hand domain containing"""	28375	protein-coding gene	gene with protein product						12477932	Standard	NM_001042625		Approved	MGC26610	uc003jju.1	Q8WWF8	OTTHUMG00000131109	ENST00000397367.2:c.409C>T	5.37:g.35910084G>A	ENSP00000380524:p.Arg137Cys					CAPSL_ENST00000397366.1_Missense_Mutation_p.R137C|CAPSL_ENST00000514524.1_Missense_Mutation_p.R137C	p.R137C	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)		4	535	-	all_lung(31;0.000268)		137			EF-hand 3.			Missense_Mutation	SNP	ENST00000397367.2	37	c.409C>T	CCDS3912.2	.	.	.	.	.	.	.	.	.	.	G	18.20	3.570437	0.65765	.	.	ENSG00000152611	ENST00000397367;ENST00000397366;ENST00000513623;ENST00000514524	T;T;T;T	0.72942	-0.7;-0.7;-0.7;-0.52	5.57	5.57	0.84162	EF-hand-like domain (1);	0.045082	0.85682	D	0.000000	D	0.85775	0.5775	M	0.91920	3.255	0.80722	D	1	D	0.67145	0.996	D	0.63381	0.914	D	0.88652	0.3183	10	0.87932	D	0	-7.8502	14.3833	0.66926	0.0:0.0:0.8521:0.1478	.	137	Q8WWF8	CAPSL_HUMAN	C	137	ENSP00000380524:R137C;ENSP00000380523:R137C;ENSP00000424806:R137C;ENSP00000421018:R137C	ENSP00000380523:R137C	R	-	1	0	CAPSL	35945841	0.998000	0.40836	0.981000	0.43875	0.751000	0.42716	3.181000	0.50903	2.629000	0.89072	0.455000	0.32223	CGT		0.393	CAPSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253772.2	NM_144647		17	100	0	0	0	1	0	17	100				
CYP2C8	1558	broad.mit.edu	37	10	96802818	96802818	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr10:96802818C>A	ENST00000371270.3	-	7	1072	c.978G>T	c.(976-978)gaG>gaT	p.E326D	CYP2C8_ENST00000539050.1_Missense_Mutation_p.E240D|CYP2C8_ENST00000535898.1_Missense_Mutation_p.E224D	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	326					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|omega-hydroxylase P450 pathway (GO:0097267)|organic acid metabolic process (GO:0006082)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)	p.E326D(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Abiraterone(DB05812)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Almotriptan(DB00918)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Candesartan(DB00796)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Chloramphenicol(DB00446)|Chloroquine(DB00608)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cisapride(DB00604)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dapsone(DB00250)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Domperidone(DB01184)|Eltrombopag(DB06210)|Enzalutamide(DB08899)|Erlotinib(DB00530)|Estradiol(DB00783)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Felodipine(DB01023)|Fenofibrate(DB01039)|Fluorouracil(DB00544)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Halofantrine(DB01218)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Liotrix(DB01583)|Loperamide(DB00836)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Methadone(DB00333)|Metronidazole(DB00916)|Mirtazapine(DB00370)|Mometasone(DB00764)|Montelukast(DB00471)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Naloxone(DB01183)|Naproxen(DB00788)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Omeprazole(DB00338)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paramethadione(DB00617)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Perphenazine(DB00850)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quinidine(DB00908)|Quinine(DB00468)|Raloxifene(DB00481)|Regorafenib(DB08896)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Salmeterol(DB00938)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Sorafenib(DB00398)|Spironolactone(DB00421)|Sulfadiazine(DB00359)|Sulfamethoxazole(DB01015)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Tazarotene(DB00799)|Temazepam(DB00231)|Terbinafine(DB00857)|Testosterone(DB00624)|Theophylline(DB00277)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Torasemide(DB00214)|Trametinib(DB08911)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vismodegib(DB08828)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zopiclone(DB01198)	CATGATCAATCTCTTCCTGGA	0.438																																						ENST00000371270.3																			1	Substitution - Missense(1)	p.E326D(1)	lung(1)	breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21						c.(976-978)gaG>gaT		cytochrome P450, family 2, subfamily C, polypeptide 8	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)						162.0	132.0	142.0					10																	96802818		2203	4300	6503	SO:0001583	missense	1558				exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding	g.chr10:96802818C>A	M17397	CCDS7438.1, CCDS55721.1, CCDS73166.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138115	ENSG00000138115		"""Cytochrome P450s"""	2622	protein-coding gene	gene with protein product		601129	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 8"""			7841444	Standard	NM_001198853		Approved	CPC8	uc001kkb.3	P10632	OTTHUMG00000018804	ENST00000371270.3:c.978G>T	10.37:g.96802818C>A	ENSP00000360317:p.Glu326Asp					CYP2C8_ENST00000535898.1_Missense_Mutation_p.E224D|CYP2C8_ENST00000539050.1_Missense_Mutation_p.E240D	p.E326D	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN		all cancers(201;6.21e-05)	7	1072	-		Colorectal(252;0.0397)	326					A8K9N8|B0AZN2|B7Z1F6|Q5VX93|Q8WWB1|Q9UCZ9	Missense_Mutation	SNP	ENST00000371270.3	37	c.978G>T	CCDS7438.1	.	.	.	.	.	.	.	.	.	.	C	14.60	2.582430	0.46006	.	.	ENSG00000138115	ENST00000371270;ENST00000535868;ENST00000535898;ENST00000539050	T;T;T	0.42900	0.96;0.96;0.96	4.49	1.33	0.21861	.	0.000000	0.64402	U	0.000001	T	0.70011	0.3175	H	0.96301	3.8	0.33132	D	0.543161	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.91635	0.986;0.999;0.998;0.998	T	0.75977	-0.3127	10	0.87932	D	0	.	7.7459	0.28869	0.0:0.607:0.0:0.393	.	240;224;294;326	F5H7Q9;B7Z1F6;B7Z8S1;P10632	.;.;.;CP2C8_HUMAN	D	326;293;224;240	ENSP00000360317:E326D;ENSP00000445062:E224D;ENSP00000442343:E240D	ENSP00000360317:E326D	E	-	3	2	CYP2C8	96792808	1.000000	0.71417	0.960000	0.40013	0.546000	0.35178	0.928000	0.28831	0.168000	0.19655	-1.128000	0.01989	GAG		0.438	CYP2C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049499.2	NM_000770		8	57	1	0	5.18039e-06	1	5.51733e-06	8	57				
GPR37	2861	broad.mit.edu	37	7	124404324	124404324	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr7:124404324C>T	ENST00000303921.2	-	1	1357	c.707G>A	c.(706-708)cGc>cAc	p.R236H		NM_005302.3	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	236					dopamine biosynthetic process (GO:0042416)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotion involved in locomotory behavior (GO:0031987)|positive regulation of dopamine metabolic process (GO:0045964)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ubiquitin ligase complex (GO:0000151)	G-protein coupled receptor activity (GO:0004930)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GTTTCCCCGGCGGGGACCCCC	0.642																																						ENST00000303921.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(706-708)cGc>cAc		G protein-coupled receptor 37 (endothelin receptor type B-like)							40.0	43.0	42.0					7																	124404324		2203	4300	6503	SO:0001583	missense	2861					endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity	g.chr7:124404324C>T		CCDS5792.1	7q31	2012-08-21			ENSG00000170775	ENSG00000170775		"""GPCR / Class A : Orphans"""	4494	protein-coding gene	gene with protein product		602583				9339362	Standard	NM_005302		Approved	EDNRBL, hET(B)R-LP, PAELR	uc003vli.4	O15354	OTTHUMG00000157197	ENST00000303921.2:c.707G>A	7.37:g.124404324C>T	ENSP00000306449:p.Arg236His						p.R236H	NM_005302.2	NP_005293.1	O15354	GPR37_HUMAN			1	1357	-			236					A4D0Y6|O00348|O14768|Q8TD39	Missense_Mutation	SNP	ENST00000303921.2	37	c.707G>A	CCDS5792.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.939234	0.52972	.	.	ENSG00000170775	ENST00000303921	T	0.37235	1.21	5.49	4.61	0.57282	.	0.272597	0.38111	N	0.001813	T	0.32164	0.0820	L	0.44542	1.39	0.37873	D	0.930115	D	0.57571	0.98	B	0.44163	0.443	T	0.23655	-1.0182	10	0.37606	T	0.19	-24.1771	11.2346	0.48933	0.0:0.9158:0.0:0.0842	.	236	O15354	GPR37_HUMAN	H	236	ENSP00000306449:R236H	ENSP00000306449:R236H	R	-	2	0	GPR37	124191560	0.796000	0.28864	0.666000	0.29783	0.219000	0.24729	1.318000	0.33643	1.560000	0.49568	0.638000	0.83543	CGC		0.642	GPR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347873.1	NM_005302		10	54	0	0	0	1	0	10	54				
DOCK11	139818	broad.mit.edu	37	X	117700104	117700104	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chrX:117700104G>A	ENST00000276202.7	+	8	893	c.830G>A	c.(829-831)aGt>aAt	p.S277N	DOCK11_ENST00000276204.6_Missense_Mutation_p.S277N	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	277					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						AACACCGACAGTTTAGTTCAA	0.348																																						ENST00000276204.6																			0				breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						c.(829-831)aGt>aAt		dedicator of cytokinesis 11							99.0	99.0	99.0					X																	117700104		2203	4300	6503	SO:0001583	missense	139818				blood coagulation	cytosol	GTP binding	g.chrX:117700104G>A	AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.830G>A	X.37:g.117700104G>A	ENSP00000276202:p.Ser277Asn					DOCK11_ENST00000276202.7_Missense_Mutation_p.S277N	p.S277N			Q5JSL3	DOC11_HUMAN			8	904	+			277					A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	ENST00000276202.7	37	c.830G>A	CCDS35373.1	.	.	.	.	.	.	.	.	.	.	G	14.19	2.460447	0.43736	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.03242	4.0;4.0	5.48	5.48	0.80851	.	0.205916	0.52532	D	0.000068	T	0.05593	0.0147	L	0.51422	1.61	0.41770	D	0.989769	B;B	0.30584	0.19;0.286	B;B	0.28553	0.039;0.091	T	0.46582	-0.9181	10	0.17832	T	0.49	-29.6296	18.041	0.89319	0.0:0.0:1.0:0.0	.	277;277	A6NIW2;Q5JSL3	.;DOC11_HUMAN	N	277	ENSP00000276204:S277N;ENSP00000276202:S277N	ENSP00000276202:S277N	S	+	2	0	DOCK11	117584132	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	5.520000	0.67080	2.296000	0.77279	0.422000	0.28245	AGT		0.348	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658		14	43	0	0	0	1	0	14	43				
MOB2	81532	broad.mit.edu	37	11	1491582	1491582	+	Silent	SNP	G	G	C			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr11:1491582G>C	ENST00000329957.6	-	5	816	c.627C>G	c.(625-627)ctC>ctG	p.L209L	MOB2_ENST00000526462.1_5'UTR	NM_001172223.1	NP_001165694.1	Q70IA6	MOB2_HUMAN	MOB kinase activator 2	178					actin cytoskeleton organization (GO:0030036)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein phosphorylation (GO:0001934)	cytoplasm (GO:0005737)|neuron projection terminus (GO:0044306)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|kidney(2)|lung(1)	4						AGTGGACGTAGAGCGTGTTCA	0.597																																						ENST00000329957.6																			0				breast(1)|kidney(2)|lung(1)	4						c.(625-627)ctC>ctG		MOB kinase activator 2							136.0	148.0	144.0					11																	1491582		2140	4229	6369	SO:0001819	synonymous_variant	81532					nucleus|perinuclear region of cytoplasm	metal ion binding	g.chr11:1491582G>C		CCDS53591.1	11p15.5	2011-09-28			ENSG00000182208	ENSG00000182208		"""MOB kinase activators"""	24904	protein-coding gene	gene with protein product	"""MOB2 Mps One Binder homolog (yeast)"""	611969				11223154, 15067004	Standard	NM_053005		Approved	HCCA2	uc010qwz.2	Q70IA6	OTTHUMG00000165545	ENST00000329957.6:c.627C>G	11.37:g.1491582G>C						MOB2_ENST00000526462.1_5'UTR	p.L209L	NM_001172223.1	NP_001165694.1	Q70IA6	MOB2_HUMAN			5	816	-			178					B4DKP3|Q96M67	Silent	SNP	ENST00000329957.6	37	c.627C>G	CCDS53591.1																																																																																				0.597	MOB2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000384770.1	NM_053005		9	68	0	0	0	1	0	9	68				
SLCO1C1	53919	broad.mit.edu	37	12	20885955	20885955	+	Silent	SNP	C	C	G			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr12:20885955C>G	ENST00000266509.2	+	10	1667	c.1299C>G	c.(1297-1299)gtC>gtG	p.V433V	SLCO1C1_ENST00000540354.1_Silent_p.V384V|SLCO1C1_ENST00000545604.1_Silent_p.V433V|SLCO1C1_ENST00000381552.1_Silent_p.V433V|SLCO1C1_ENST00000545102.1_Silent_p.V315V	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	433					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	GATCATCTGTCTTTGGTTACC	0.443																																						ENST00000381552.1																			0				NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60						c.(1297-1299)gtC>gtG		solute carrier organic anion transporter family, member 1C1							212.0	188.0	196.0					12																	20885955		2203	4300	6503	SO:0001819	synonymous_variant	53919				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	g.chr12:20885955C>G	AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"""Solute carriers"""	13819	protein-coding gene	gene with protein product		613389	"""solute carrier family 21 (organic anion transporter), member 14"""	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.1299C>G	12.37:g.20885955C>G						SLCO1C1_ENST00000540354.1_Silent_p.V384V|SLCO1C1_ENST00000545102.1_Silent_p.V315V|SLCO1C1_ENST00000545604.1_Silent_p.V433V|SLCO1C1_ENST00000266509.2_Silent_p.V433V	p.V433V			Q9NYB5	SO1C1_HUMAN			10	1667	+	Esophageal squamous(101;0.149)		433					B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Silent	SNP	ENST00000266509.2	37	c.1299C>G	CCDS8683.1																																																																																				0.443	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401765.1	NM_017435		11	91	0	0	0	1	0	11	91				
SNRNP40	9410	broad.mit.edu	37	1	31769513	31769513	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr1:31769513C>A	ENST00000263694.4	-	1	104	c.86G>T	c.(85-87)gGg>gTg	p.G29V	ZCCHC17_ENST00000546109.1_5'Flank|ZCCHC17_ENST00000344147.5_5'Flank|ZCCHC17_ENST00000422613.2_5'Flank|SNRNP40_ENST00000446633.2_Missense_Mutation_p.G29V|ZCCHC17_ENST00000373714.1_5'Flank	NM_004814.2	NP_004805.2	Q96DI7	SNR40_HUMAN	small nuclear ribonucleoprotein 40kDa (U5)	29					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	7						TGGGCCAGACCCCGCTCCCAA	0.637																																						ENST00000263694.4																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	7						c.(85-87)gGg>gTg		small nuclear ribonucleoprotein 40kDa (U5)							38.0	41.0	40.0					1																	31769513		2203	4300	6503	SO:0001583	missense	9410					catalytic step 2 spliceosome|cytoplasm|nucleoplasm|small nucleolar ribonucleoprotein complex|U5 snRNP	protein binding	g.chr1:31769513C>A	AF090988	CCDS340.1	1p35.2	2013-01-09	2008-10-29	2008-10-29	ENSG00000060688	ENSG00000060688		"""WD repeat domain containing"""	30857	protein-coding gene	gene with protein product		607797	"""WD repeat domain 57 (U5 snRNP specific)"""	WDR57		9774689, 9731529, 10788320	Standard	NM_004814		Approved	PRP8BP, SPF38, PRPF8BP, HPRP8BP	uc009vtt.3	Q96DI7	OTTHUMG00000003790	ENST00000263694.4:c.86G>T	1.37:g.31769513C>A	ENSP00000263694:p.Gly29Val					SNRNP40_ENST00000446633.2_Missense_Mutation_p.G29V	p.G29V	NM_004814.2	NP_004805.2	Q96DI7	SNR40_HUMAN			1	104	-			29					B4DQJ1|O75938|O95320	Missense_Mutation	SNP	ENST00000263694.4	37	c.86G>T	CCDS340.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.609216	0.46527	.	.	ENSG00000060688	ENST00000263694;ENST00000446633	T;T	0.55588	0.51;0.56	5.66	5.66	0.87406	.	0.208574	0.42420	D	0.000710	T	0.53222	0.1783	N	0.08118	0	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.83275	0.996;0.99	T	0.55636	-0.8110	10	0.27785	T	0.31	.	16.4568	0.84021	0.0:1.0:0.0:0.0	.	29;29	B4DQJ1;Q96DI7	.;SNR40_HUMAN	V	29	ENSP00000263694:G29V;ENSP00000406841:G29V	ENSP00000263694:G29V	G	-	2	0	SNRNP40	31542100	0.986000	0.35501	1.000000	0.80357	0.693000	0.40251	4.297000	0.59061	2.680000	0.91292	0.655000	0.94253	GGG		0.637	SNRNP40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010657.1	NM_004814		7	49	1	0	0.0293803	1	0.0298358	7	49				
COTL1	23406	broad.mit.edu	37	16	84623742	84623742	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr16:84623742G>A	ENST00000262428.4	-	3	449	c.287C>T	c.(286-288)aCg>aTg	p.T96M	COTL1_ENST00000564057.1_Missense_Mutation_p.T27M	NM_021149.2	NP_066972.1	Q14019	COTL1_HUMAN	coactosin-like F-actin binding protein 1	96	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				defense response to fungus (GO:0050832)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	actin binding (GO:0003779)|enzyme binding (GO:0019899)			endometrium(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	6						GGTCTTGTCCGTCCCGGTTTT	0.602																																						ENST00000262428.4																			0				endometrium(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	6						c.(286-288)aCg>aTg		coactosin-like 1 (Dictyostelium)							99.0	75.0	83.0					16																	84623742		2199	4300	6499	SO:0001583	missense	23406					cytoplasm|cytoskeleton	actin binding|enzyme binding	g.chr16:84623742G>A	L54057	CCDS10947.1	16q24.1	2014-03-05	2014-03-05	2002-08-01	ENSG00000103187	ENSG00000103187			18304	protein-coding gene	gene with protein product		606748	"""coactosin-like 1 (Dictyostelium)"""			10051563, 9326934, 16924104	Standard	NM_021149		Approved	CLP	uc002fid.3	Q14019	OTTHUMG00000137634	ENST00000262428.4:c.287C>T	16.37:g.84623742G>A	ENSP00000262428:p.Thr96Met					COTL1_ENST00000564057.1_Missense_Mutation_p.T27M	p.T96M	NM_021149.2	NP_066972.1	Q14019	COTL1_HUMAN			3	449	-			96			ADF-H.		B2RDU3|D3DUL9|Q86XM5	Missense_Mutation	SNP	ENST00000262428.4	37	c.287C>T	CCDS10947.1	.	.	.	.	.	.	.	.	.	.	G	31	5.071892	0.93950	.	.	ENSG00000103187	ENST00000262428	T	0.35973	1.28	5.34	5.34	0.76211	Actin-binding, cofilin/tropomyosin type (3);	0.000000	0.85682	D	0.000000	T	0.64427	0.2597	M	0.83953	2.67	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.65701	-0.6104	10	0.41790	T	0.15	.	18.0463	0.89334	0.0:0.0:1.0:0.0	.	96	Q14019	COTL1_HUMAN	M	96	ENSP00000262428:T96M	ENSP00000262428:T96M	T	-	2	0	COTL1	83181243	1.000000	0.71417	0.985000	0.45067	0.990000	0.78478	9.233000	0.95337	2.494000	0.84150	0.561000	0.74099	ACG		0.602	COTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269075.1	NM_021149		11	31	0	0	0	1	0	11	31				
KIF4B	285643	broad.mit.edu	37	5	154393920	154393920	+	Silent	SNP	T	T	C			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr5:154393920T>C	ENST00000435029.4	+	1	661	c.501T>C	c.(499-501)ccT>ccC	p.P167P		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	167	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GGGAGGATCCTAAGGAAGGCA	0.408																																						ENST00000435029.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58						c.(499-501)ccT>ccC		kinesin family member 4B							197.0	197.0	197.0					5																	154393920		2203	4300	6503	SO:0001819	synonymous_variant	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154393920T>C	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"""Kinesins"""	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.501T>C	5.37:g.154393920T>C							p.P167P	NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		1	661	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	167			Kinesin-motor.			Silent	SNP	ENST00000435029.4	37	c.501T>C	CCDS47324.1																																																																																				0.408	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			25	112	0	0	0	1	0	25	112				
SH3TC1	54436	broad.mit.edu	37	4	8239292	8239292	+	Silent	SNP	C	C	T			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr4:8239292C>T	ENST00000245105.3	+	17	3715	c.3648C>T	c.(3646-3648)ctC>ctT	p.L1216L	SH3TC1_ENST00000539824.1_Silent_p.L1140L	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	1216										NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						ACTTCTACCTCAAGGCCCTGT	0.637																																					NSCLC(145;2298 2623 35616 37297)	ENST00000539824.1																			0				NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(3418-3420)ctC>ctT		SH3 domain and tetratricopeptide repeats 1							56.0	45.0	49.0					4																	8239292		2203	4300	6503	SO:0001819	synonymous_variant	54436						binding	g.chr4:8239292C>T	AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"""Tetratricopeptide (TTC) repeat domain containing"""	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.3648C>T	4.37:g.8239292C>T						SH3TC1_ENST00000245105.3_Silent_p.L1216L	p.L1140L			Q8TE82	S3TC1_HUMAN			17	3794	+			1216					Q4W5G5	Silent	SNP	ENST00000245105.3	37	c.3420C>T	CCDS3399.1																																																																																				0.637	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206991.2	NM_018986		5	13	0	0	0	1	0	5	13				
OR2T12	127064	broad.mit.edu	37	1	248458047	248458047	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr1:248458047C>T	ENST00000317996.1	-	1	833	c.834G>A	c.(832-834)atG>atA	p.M278I		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	278						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			AAGGGGTGAACATAGTATAGA	0.473																																						ENST00000317996.1																			0				endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(832-834)atG>atA		olfactory receptor, family 2, subfamily T, member 12							155.0	153.0	153.0					1																	248458047		2203	4300	6503	SO:0001583	missense	127064				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248458047C>T	BK004485	CCDS31110.1	1q44	2012-08-09			ENSG00000177201	ENSG00000177201		"""GPCR / Class A : Olfactory receptors"""	19592	protein-coding gene	gene with protein product							Standard	NM_001004692		Approved		uc010pzj.2	Q8NG77	OTTHUMG00000040457	ENST00000317996.1:c.834G>A	1.37:g.248458047C>T	ENSP00000324583:p.Met278Ile						p.M278I	NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0201)		1	833	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		278						Missense_Mutation	SNP	ENST00000317996.1	37	c.834G>A	CCDS31110.1	.	.	.	.	.	.	.	.	.	.	g	0.001	-3.260151	0.00021	.	.	ENSG00000177201	ENST00000317996	T	0.00036	8.86	1.71	-3.42	0.04825	GPCR, rhodopsin-like superfamily (1);	0.837837	0.09675	N	0.770601	T	0.00039	0.0001	N	0.00251	-1.775	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36065	-0.9763	10	0.02654	T	1	.	1.4841	0.02443	0.1461:0.366:0.2569:0.231	.	278	Q8NG77	O2T12_HUMAN	I	278	ENSP00000324583:M278I	ENSP00000324583:M278I	M	-	3	0	OR2T12	246524670	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.733000	0.00192	-2.373000	0.00600	-1.875000	0.00549	ATG		0.473	OR2T12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097353.1	NM_001004692		30	119	0	0	0	1	0	30	119				
MYCBP2	23077	broad.mit.edu	37	13	77619532	77619532	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr13:77619532C>G	ENST00000544440.2	-	83	13921	c.13904G>C	c.(13903-13905)aGa>aCa	p.R4635T	MYCBP2_ENST00000407578.2_Missense_Mutation_p.R4673T|MYCBP2_ENST00000357337.6_Missense_Mutation_p.R4635T					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GTGGGCATTTCTGCACACTCC	0.478																																						ENST00000407578.2																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(14017-14019)aGa>aCa		MYC binding protein 2, E3 ubiquitin protein ligase							127.0	104.0	112.0					13																	77619532		2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77619532C>G	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.13904G>C	13.37:g.77619532C>G	ENSP00000444596:p.Arg4635Thr					MYCBP2_ENST00000544440.2_Missense_Mutation_p.R4635T|MYCBP2_ENST00000357337.6_Missense_Mutation_p.R4635T	p.R4673T	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	83	14284	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	4635						Missense_Mutation	SNP	ENST00000544440.2	37	c.14018G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.37|19.37	3.814153|3.814153	0.70912|0.70912	.|.	.|.	ENSG00000005810|ENSG00000005810	ENST00000429715|ENST00000357337;ENST00000407578;ENST00000544440	.|T;T;T	.|0.46451	.|0.88;0.87;0.88	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.66781|0.66781	0.2824|0.2824	M|M	0.79475|0.79475	2.455|2.455	0.80722|0.80722	D|D	1|1	.|D	.|0.54601	.|0.967	.|D	.|0.63597	.|0.916	T|T	0.69022|0.69022	-0.5255|-0.5255	5|10	.|0.87932	.|D	.|0	.|.	19.9832|19.9832	0.97338|0.97338	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|4635	.|O75592	.|MYCB2_HUMAN	H|T	1055|4635;4673;4635	.|ENSP00000349892:R4635T;ENSP00000384288:R4673T;ENSP00000444596:R4635T	.|ENSP00000349892:R4635T	Q|R	-|-	3|2	2|0	MYCBP2|MYCBP2	76517533|76517533	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.487000|7.487000	0.81328|0.81328	2.722000|2.722000	0.93159|0.93159	0.655000|0.655000	0.94253|0.94253	CAG|AGA		0.478	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		7	40	0	0	0	1	0	7	40				
TP53	7157	broad.mit.edu	37	17	7578394	7578394	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr17:7578394T>A	ENST00000269305.4	-	5	725	c.536A>T	c.(535-537)cAt>cTt	p.H179L	TP53_ENST00000413465.2_Missense_Mutation_p.H179L|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000420246.2_Missense_Mutation_p.H179L|TP53_ENST00000359597.4_Missense_Mutation_p.H179L|TP53_ENST00000445888.2_Missense_Mutation_p.H179L|TP53_ENST00000455263.2_Missense_Mutation_p.H179L	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	179	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(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)	GCAGCGCTCATGGTGGGGGCA	0.642		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"""		217	Substitution - Missense(166)|Deletion - In frame(24)|Deletion - Frameshift(18)|Whole gene deletion(8)|Complex - deletion inframe(1)	p.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(1)	lung(35)|breast(32)|large_intestine(29)|upper_aerodigestive_tract(26)|oesophagus(21)|ovary(21)|central_nervous_system(16)|haematopoietic_and_lymphoid_tissue(8)|urinary_tract(6)|pancreas(6)|liver(5)|bone(4)|biliary_tract(3)|cervix(1)|stomach(1)|endometrium(1)|salivary_gland(1)|skin(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						c.(535-537)cAt>cTt	Other conserved DNA damage response genes	tumor protein p53							47.0	47.0	47.0					17																	7578394		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578394T>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.536A>T	17.37:g.7578394T>A	ENSP00000269305:p.His179Leu	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_ENST00000269305.4_Missense_Mutation_p.H179L|TP53_ENST00000445888.2_Missense_Mutation_p.H179L|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.H179L|TP53_ENST00000413465.2_Missense_Mutation_p.H179L|TP53_ENST00000455263.2_Missense_Mutation_p.H179L	p.H179L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	668	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	179		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.536A>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	19.27	3.794677	0.70452	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99910	-7.88;-7.88;-7.88;-7.88;-7.88;-7.88;-7.88;-7.88	5.47	5.47	0.80525	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.048592	0.85682	D	0.000000	D	0.99917	0.9961	M	0.92507	3.315	0.80722	D	1	B;P;B;D;B;P;B	0.89917	0.081;0.679;0.133;1.0;0.333;0.536;0.224	B;P;B;D;P;B;B	0.97110	0.095;0.686;0.119;1.0;0.46;0.397;0.107	D	0.95915	0.8926	10	0.72032	D	0.01	-15.4889	13.8032	0.63214	0.0:0.0:0.0:1.0	.	140;179;179;86;179;179;179	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	L	179;179;179;179;179;179;168;86;47;86;47	ENSP00000410739:H179L;ENSP00000352610:H179L;ENSP00000269305:H179L;ENSP00000398846:H179L;ENSP00000391127:H179L;ENSP00000391478:H179L;ENSP00000425104:H47L;ENSP00000423862:H86L	ENSP00000269305:H179L	H	-	2	0	TP53	7519119	1.000000	0.71417	0.945000	0.38365	0.856000	0.48823	6.263000	0.72521	2.208000	0.71279	0.460000	0.39030	CAT		0.642	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		18	25	0	0	0	1	0	18	25				
NUP210	23225	broad.mit.edu	37	3	13421096	13421096	+	Missense_Mutation	SNP	G	G	C	rs149916127		TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr3:13421096G>C	ENST00000254508.5	-	7	1025	c.943C>G	c.(943-945)Ctg>Gtg	p.L315V		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	315					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CTCTGTCCCAGCTGCAGTGCA	0.587																																						ENST00000254508.5																			0				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66						c.(943-945)Ctg>Gtg		nucleoporin 210kDa		G	VAL/LEU	1,4405	2.1+/-5.4	0,1,2202	90.0	86.0	87.0		943	4.2	1.0	3	dbSNP_134	87	0,8600		0,0,4300	no	missense	NUP210	NM_024923.2	32	0,1,6502	CC,CG,GG		0.0,0.0227,0.0077	benign	315/1888	13421096	1,13005	2203	4300	6503	SO:0001583	missense	23225				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr3:13421096G>C	AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.943C>G	3.37:g.13421096G>C	ENSP00000254508:p.Leu315Val						p.L315V	NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN			7	1025	-	all_neural(104;0.187)		315					A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Missense_Mutation	SNP	ENST00000254508.5	37	c.943C>G	CCDS33704.1	.	.	.	.	.	.	.	.	.	.	G	13.07	2.126952	0.37533	2.27E-4	0.0	ENSG00000132182	ENST00000254508	T	0.05925	3.37	5.15	4.25	0.50352	.	0.589880	0.17764	N	0.162787	T	0.08891	0.0220	L	0.57536	1.79	0.36496	D	0.868742	B	0.13594	0.008	B	0.10450	0.005	T	0.07539	-1.0767	10	0.33141	T	0.24	-3.1778	12.1995	0.54317	0.0:0.0:0.6795:0.3205	.	315	Q8TEM1	PO210_HUMAN	V	315	ENSP00000254508:L315V	ENSP00000254508:L315V	L	-	1	2	NUP210	13396096	1.000000	0.71417	1.000000	0.80357	0.625000	0.37756	3.803000	0.55560	1.090000	0.41315	0.655000	0.94253	CTG		0.587	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	NM_024923		4	41	0	0	0	1	0	4	41				
ATP2C1	27032	broad.mit.edu	37	3	130694231	130694231	+	Missense_Mutation	SNP	G	G	A	rs137853014		TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr3:130694231G>A	ENST00000510168.1	+	18	2019	c.1469G>A	c.(1468-1470)tGt>tAt	p.C490Y	ATP2C1_ENST00000393221.4_Missense_Mutation_p.C524Y|ATP2C1_ENST00000513801.1_Missense_Mutation_p.C474Y|ATP2C1_ENST00000505330.1_Missense_Mutation_p.C474Y|ATP2C1_ENST00000428331.2_Missense_Mutation_p.C490Y|ATP2C1_ENST00000508532.1_Missense_Mutation_p.C490Y|ATP2C1_ENST00000328560.8_Missense_Mutation_p.C490Y|ATP2C1_ENST00000422190.2_Missense_Mutation_p.C490Y|ATP2C1_ENST00000533801.2_Missense_Mutation_p.C485Y|ATP2C1_ENST00000507488.2_Missense_Mutation_p.C474Y|ATP2C1_ENST00000504948.1_Missense_Mutation_p.C474Y|ATP2C1_ENST00000504381.1_Missense_Mutation_p.C435Y|ATP2C1_ENST00000359644.3_Missense_Mutation_p.C490Y			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	490			C -> F (in HHD). {ECO:0000269|PubMed:11874499}.		actin cytoskeleton reorganization (GO:0031532)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cellular calcium ion homeostasis (GO:0006874)|cellular manganese ion homeostasis (GO:0030026)|epidermis development (GO:0008544)|Golgi calcium ion homeostasis (GO:0032468)|Golgi calcium ion transport (GO:0032472)|ion transmembrane transport (GO:0034220)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|manganese ion binding (GO:0030145)|manganese-transporting ATPase activity (GO:0015410)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	ATTAAGTACTGTACTACATAC	0.423									Hailey-Hailey disease																												Esophageal Squamous(99;456 1443 27647 34099 42636)	ENST00000510168.1																			0				breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39	GRCh37	CM020633	ATP2C1	M	rs137853014	c.(1468-1470)tGt>tAt		ATPase, Ca++ transporting, type 2C, member 1	Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)						142.0	132.0	136.0					3																	130694231		2203	4300	6503	SO:0001583	missense	27032	Hailey-Hailey disease	Familial Cancer Database	HHD, Familial Benign Chronic Pemphigus, Benign Familial Pemphigus	actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity	g.chr3:130694231G>A	AF181120	CCDS33856.1, CCDS46912.1, CCDS46913.1, CCDS46914.1, CCDS56278.1, CCDS56279.1, CCDS56280.1, CCDS56281.1, CCDS75006.1	3q21.3	2012-10-22			ENSG00000017260	ENSG00000017260	3.6.3.8	"""ATPases / P-type"""	13211	protein-coding gene	gene with protein product	"""secretory pathway Ca2+/Mn2+ ATPase 1"", ""calcium-transporting ATPase type 2C member 1"""	604384	"""benign chronic pemphigus (Hailey-Hailey disease)"""	BCPM		10615129, 10767338	Standard	NM_001001485		Approved	KIAA1347, ATP2C1A, PMR1, SPCA1	uc011bli.2	P98194	OTTHUMG00000136802	ENST00000510168.1:c.1469G>A	3.37:g.130694231G>A	ENSP00000427461:p.Cys490Tyr					ATP2C1_ENST00000393221.4_Missense_Mutation_p.C524Y|ATP2C1_ENST00000504381.1_Missense_Mutation_p.C435Y|ATP2C1_ENST00000359644.3_Missense_Mutation_p.C490Y|ATP2C1_ENST00000507488.2_Missense_Mutation_p.C474Y|ATP2C1_ENST00000428331.2_Missense_Mutation_p.C490Y|ATP2C1_ENST00000513801.1_Missense_Mutation_p.C474Y|ATP2C1_ENST00000504948.1_Missense_Mutation_p.C474Y|ATP2C1_ENST00000422190.2_Missense_Mutation_p.C490Y|ATP2C1_ENST00000505330.1_Missense_Mutation_p.C474Y|ATP2C1_ENST00000508532.1_Missense_Mutation_p.C490Y|ATP2C1_ENST00000533801.2_Missense_Mutation_p.C485Y|ATP2C1_ENST00000328560.8_Missense_Mutation_p.C490Y	p.C490Y			P98194	AT2C1_HUMAN			18	2019	+			490		C -> F (in HHD).			B2RAT7|B4DSW3|B7Z3X9|G3XAH8|G8JLN9|O76005|Q86V72|Q86V73|Q8N6V1|Q8NCJ7	Missense_Mutation	SNP	ENST00000510168.1	37	c.1469G>A	CCDS46914.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.7|22.7	4.330726|4.330726	0.81690|0.81690	.|.	.|.	ENSG00000017260|ENSG00000017260	ENST00000505330;ENST00000504381;ENST00000507488;ENST00000393221;ENST00000533801;ENST00000510168;ENST00000508532;ENST00000504948;ENST00000513801;ENST00000328560;ENST00000428331;ENST00000359644;ENST00000422190;ENST00000347421|ENST00000504612;ENST00000508660	D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.96856|.	-4.15;-4.15;-4.15;-4.15;-4.15;-4.15;-4.15;-4.15;-4.15;-4.15;-4.15;-4.15;-4.15|.	5.77|5.77	5.77|5.77	0.91146|0.91146	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.91489|0.91489	0.7313|0.7313	H|H	0.98849|0.98849	4.35|4.35	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D;D|.	0.97110|.	1.0;1.0;0.998;1.0;0.998;1.0;1.0|.	D|D	0.94418|0.94418	0.7638|0.7638	10|5	0.87932|.	D|.	0|.	.|.	19.9795|19.9795	0.97321|0.97321	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	524;485;524;490;524;490;490|.	G3XAH8;B4DSW3;B4E2Q0;P98194-5;B7Z3X9;P98194-2;P98194|.	.;.;.;.;.;.;AT2C1_HUMAN|.	Y|I	474;435;474;524;485;490;490;474;474;490;490;490;490;489|444;65	ENSP00000423774:C474Y;ENSP00000425320:C435Y;ENSP00000421326:C474Y;ENSP00000376914:C524Y;ENSP00000432956:C485Y;ENSP00000427461:C490Y;ENSP00000424783:C490Y;ENSP00000423330:C474Y;ENSP00000422872:C474Y;ENSP00000329664:C490Y;ENSP00000395809:C490Y;ENSP00000352665:C490Y;ENSP00000402677:C490Y|.	ENSP00000329664:C490Y|.	C|V	+|+	2|1	0|0	ATP2C1|ATP2C1	132176921|132176921	1.000000|1.000000	0.71417|0.71417	0.984000|0.984000	0.44739|0.44739	0.810000|0.810000	0.45777|0.45777	9.146000|9.146000	0.94640|0.94640	2.720000|2.720000	0.93068|0.93068	0.650000|0.650000	0.86243|0.86243	TGT|GTA		0.423	ATP2C1-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356648.2	NM_001001486		13	74	0	0	0	1	0	13	74				
ASB2	51676	broad.mit.edu	37	14	94417390	94417390	+	Missense_Mutation	SNP	C	C	T	rs142812400	byFrequency	TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr14:94417390C>T	ENST00000315988.4	-	4	1179	c.691G>A	c.(691-693)Gcc>Acc	p.A231T	ASB2_ENST00000556337.1_Intron|MIR4506_ENST00000584693.1_RNA|ASB2_ENST00000555019.1_Missense_Mutation_p.A279T	NM_016150.4	NP_057234.2	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	231					intracellular signal transduction (GO:0035556)|myoblast differentiation (GO:0045445)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)	Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		CCACTCTGGGCGGCCACGAAC	0.587													C|||	2	0.000399361	0.0008	0.0	5008	,	,		20770	0.0		0.0	False		,,,				2504	0.001					ENST00000555019.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27						c.(835-837)Gcc>Acc		ankyrin repeat and SOCS box containing 2		C	THR/ALA,THR/ALA	0,4406		0,0,2203	153.0	141.0	145.0		835,691	4.7	1.0	14	dbSNP_134	145	4,8596	3.7+/-12.6	0,4,4296	yes	missense,missense	ASB2	NM_001202429.1,NM_016150.4	58,58	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	probably-damaging,probably-damaging	279/636,231/588	94417390	4,13002	2203	4300	6503	SO:0001583	missense	51676				intracellular signal transduction			g.chr14:94417390C>T	AF159164	CCDS9915.1, CCDS55940.1	14q31-q32	2013-01-10	2011-01-25					"""Ankyrin repeat domain containing"""	16012	protein-coding gene	gene with protein product		605759	"""ankyrin repeat and SOCS box-containing 2"""				Standard	NM_016150		Approved	ASB-2	uc001ycd.3	Q96Q27		ENST00000315988.4:c.691G>A	14.37:g.94417390C>T	ENSP00000320675:p.Ala231Thr					ASB2_ENST00000315988.4_Missense_Mutation_p.A231T|ASB2_ENST00000556337.1_Intron	p.A279T	NM_001202429.1	NP_001189358.1	Q96Q27	ASB2_HUMAN		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)	6	1265	-		all_cancers(154;0.13)	231					B2RDP9|B4E166|Q9NSU5|Q9Y567	Missense_Mutation	SNP	ENST00000315988.4	37	c.835G>A	CCDS9915.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.923305	0.92319	0.0	4.65E-4	ENSG00000100628	ENST00000555019;ENST00000434324;ENST00000315988;ENST00000543546;ENST00000555507;ENST00000556062	T;T;T;T	0.72051	-0.6;-0.6;-0.62;-0.37	5.62	4.68	0.58851	Ankyrin repeat-containing domain (3);	0.052788	0.85682	D	0.000000	D	0.83700	0.5311	M	0.80332	2.49	0.80722	D	1	D;D;D	0.89917	1.0;0.992;1.0	D;P;D	0.69824	0.966;0.711;0.966	D	0.85527	0.1207	10	0.62326	D	0.03	-28.8957	15.3418	0.74303	0.1402:0.8598:0.0:0.0	.	247;279;231	B3KPZ6;B4E166;Q96Q27	.;.;ASB2_HUMAN	T	279;247;231;177;177;125	ENSP00000451575:A279T;ENSP00000320675:A231T;ENSP00000450940:A177T;ENSP00000451694:A125T	ENSP00000320675:A231T	A	-	1	0	ASB2	93487143	1.000000	0.71417	0.957000	0.39632	0.824000	0.46624	5.995000	0.70631	2.644000	0.89710	0.561000	0.74099	GCC		0.587	ASB2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412845.1			20	105	0	0	0	1	0	20	105				
SPICE1	152185	broad.mit.edu	37	3	113176157	113176157	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr3:113176157C>T	ENST00000295872.4	-	13	1742	c.1483G>A	c.(1483-1485)Gag>Aag	p.E495K		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	495					metaphase plate congression (GO:0051310)|regulation of centriole replication (GO:0046599)|spindle assembly involved in mitosis (GO:0090307)	centriole (GO:0005814)|centrosome (GO:0005813)|spindle (GO:0005819)				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						GCCACTTCCTCTCTGAACATC	0.443																																						ENST00000295872.4																			0				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						c.(1483-1485)Gag>Aag		spindle and centriole associated protein 1							100.0	98.0	99.0					3																	113176157		2203	4300	6503	SO:0001583	missense	152185				cell division|mitosis	centriole|spindle	protein binding	g.chr3:113176157C>T	AY099107	CCDS2973.1	3q13.2	2010-09-01	2010-09-01	2010-09-01	ENSG00000163611	ENSG00000163611			25083	protein-coding gene	gene with protein product	"""spindle and centriole protein"""	613447	"""coiled-coil domain containing 52"""	CCDC52		20736305	Standard	NM_144718		Approved	SPICE	uc003eag.4	Q8N0Z3	OTTHUMG00000159261	ENST00000295872.4:c.1483G>A	3.37:g.113176157C>T	ENSP00000295872:p.Glu495Lys						p.E495K	NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN			13	1742	-			495					D3DN72|Q8WUX6	Missense_Mutation	SNP	ENST00000295872.4	37	c.1483G>A	CCDS2973.1	.	.	.	.	.	.	.	.	.	.	C	14.18	2.457795	0.43634	.	.	ENSG00000163611	ENST00000295872	T	0.32023	1.47	5.63	3.51	0.40186	.	0.337088	0.31312	N	0.007872	T	0.17874	0.0429	N	0.22421	0.69	0.26885	N	0.967469	B;B	0.16166	0.016;0.009	B;B	0.16722	0.016;0.016	T	0.16453	-1.0402	10	0.18710	T	0.47	-8.6778	8.5266	0.33309	0.0:0.7961:0.0:0.2039	.	391;495	B3KX77;Q8N0Z3	.;SPICE_HUMAN	K	495	ENSP00000295872:E495K	ENSP00000295872:E495K	E	-	1	0	SPICE1	114658847	1.000000	0.71417	0.996000	0.52242	0.747000	0.42532	1.278000	0.33179	1.378000	0.46305	0.561000	0.74099	GAG		0.443	SPICE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354177.2	NM_144718		4	81	0	0	0	1	0	4	81				
PTCHD3	374308	broad.mit.edu	37	10	27702585	27702585	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr10:27702585C>T	ENST00000438700.3	-	1	712	c.595G>A	c.(595-597)Gcc>Acc	p.A199T		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	199					spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						CTCCTGGAGGCGGAGAAGCGG	0.602																																						ENST00000438700.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						c.(595-597)Gcc>Acc		patched domain containing 3							62.0	68.0	66.0					10																	27702585		2203	4300	6503	SO:0001583	missense	374308				spermatid development	integral to membrane	hedgehog receptor activity	g.chr10:27702585C>T	AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.595G>A	10.37:g.27702585C>T	ENSP00000417658:p.Ala199Thr						p.A199T	NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN			1	712	-			199					I3L499|Q6ZU28	Missense_Mutation	SNP	ENST00000438700.3	37	c.595G>A	CCDS31173.1	.	.	.	.	.	.	.	.	.	.	C	6.779	0.512668	0.12944	.	.	ENSG00000182077	ENST00000438700	D	0.85702	-2.02	3.65	-7.31	0.01441	.	1.787980	0.02563	N	0.096963	T	0.74846	0.3770	L	0.43152	1.355	0.09310	N	1	B	0.34161	0.439	B	0.33521	0.165	T	0.64884	-0.6302	10	0.13108	T	0.6	-0.0332	6.0702	0.19885	0.0:0.4028:0.3399:0.2574	.	199	Q3KNS1	PTHD3_HUMAN	T	199	ENSP00000417658:A199T	ENSP00000417658:A199T	A	-	1	0	PTCHD3	27742591	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.613000	0.05610	-2.140000	0.00806	-1.807000	0.00615	GCC		0.602	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047325.3	XM_370541		30	85	0	0	0	1	0	30	85				
CHEK2P2	646096	broad.mit.edu	37	15	20488851	20488851	+	RNA	SNP	G	G	T			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr15:20488851G>T	ENST00000555186.1	+	0	334					NR_038836.1				checkpoint kinase 2 pseudogene 2																		TGTTTCTGTTGGGACTGCTGG	0.448																																						ENST00000555186.1																			0																																																			646096							g.chr15:20488851G>T			15q11.1	2011-11-11			ENSG00000259156	ENSG00000259156			43578	pseudogene	pseudogene							Standard	NR_038836		Approved		uc001ytf.1		OTTHUMG00000171660		15.37:g.20488851G>T								NR_038836.1						0	334	+									RNA	SNP	ENST00000555186.1	37																																																																																						0.448	CHEK2P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000414654.1	NR_038836		14	83	1	0	1.05317e-09	1	1.14971e-09	14	83				
AMOTL2	51421	broad.mit.edu	37	3	134086462	134086462	+	Silent	SNP	C	C	T	rs531492024		TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr3:134086462C>T	ENST00000422605.2	-	3	1084	c.918G>A	c.(916-918)tcG>tcA	p.S306S	AMOTL2_ENST00000514516.1_Silent_p.S364S|AMOTL2_ENST00000511759.1_5'Flank|AMOTL2_ENST00000513145.1_Silent_p.S306S|AMOTL2_ENST00000249883.5_Silent_p.S306S			Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	306					hippo signaling (GO:0035329)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|tight junction (GO:0005923)				endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						GGGCACTGCCCGAGGTGGCTG	0.677													C|||	1	0.000199681	0.0	0.0	5008	,	,		14769	0.001		0.0	False		,,,				2504	0.0					ENST00000514516.1																			0				endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						c.(1090-1092)tcG>tcA		angiomotin like 2							38.0	42.0	40.0					3																	134086462		2203	4300	6503	SO:0001819	synonymous_variant	51421							g.chr3:134086462C>T	AF175966	CCDS33860.1, CCDS63783.1, CCDS63784.1	3q21-q22	2008-07-18			ENSG00000114019	ENSG00000114019			17812	protein-coding gene	gene with protein product	"""Leman coiled-coil protein"", ""angiomotin-like protein 2"""	614658					Standard	NM_016201		Approved	LCCP	uc003eqg.1	Q9Y2J4	OTTHUMG00000159777	ENST00000422605.2:c.918G>A	3.37:g.134086462C>T						AMOTL2_ENST00000249883.5_Silent_p.S306S|AMOTL2_ENST00000513145.1_Silent_p.S306S|AMOTL2_ENST00000422605.2_Silent_p.S306S	p.S364S	NM_001278683.1	NP_001265612.1	Q9Y2J4	AMOL2_HUMAN			3	1270	-			306					A8K6F1|B7Z5Q1|E9PHW3|Q53EP1|Q96F99|Q9UKB4	Silent	SNP	ENST00000422605.2	37	c.1092G>A																																																																																					0.677	AMOTL2-014	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000358149.1	NM_016201		14	50	0	0	0	1	0	14	50				
CYP7A1	1581	broad.mit.edu	37	8	59410811	59410811	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr8:59410811A>T	ENST00000301645.3	-	2	435	c.298T>A	c.(298-300)Ttt>Att	p.F100I		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	100			F -> S. {ECO:0000269|PubMed:1610352}.		bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cholesterol catabolic process (GO:0006707)|cholesterol homeostasis (GO:0042632)|regulation of bile acid biosynthetic process (GO:0070857)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	cholesterol 7-alpha-monooxygenase activity (GO:0008123)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				GCAAAGTGAAATTTTTTCCAA	0.323									Neonatal Giant Cell Hepatitis																													ENST00000301645.3																			0				breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34						c.(298-300)Ttt>Att		cytochrome P450, family 7, subfamily A, polypeptide 1							92.0	98.0	96.0					8																	59410811		2203	4300	6503	SO:0001583	missense	1581	Neonatal Giant Cell Hepatitis	Familial Cancer Database	Neonatal Hemochromatosis	bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding	g.chr8:59410811A>T	M89803	CCDS6171.1	8q11-q12	2010-05-04	2003-01-14		ENSG00000167910	ENSG00000167910	1.14.13.17	"""Cytochrome P450s"""	2651	protein-coding gene	gene with protein product	"""cholesterol 7 alpha-monooxygenase"""	118455	"""cytochrome P450, subfamily VIIA (cholesterol 7 alpha-monooxygenase), polypeptide 1"""	CYP7		1358792	Standard	NM_000780		Approved		uc003xtm.4	P22680	OTTHUMG00000164301	ENST00000301645.3:c.298T>A	8.37:g.59410811A>T	ENSP00000301645:p.Phe100Ile						p.F100I	NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN			2	435	-		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)	100		F -> S.			P78454|Q3MIL8|Q7KZ19	Missense_Mutation	SNP	ENST00000301645.3	37	c.298T>A	CCDS6171.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.305502	0.81247	.	.	ENSG00000167910	ENST00000301645	T	0.69040	-0.37	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.73976	0.3656	M	0.86740	2.835	0.80722	D	1	P	0.39782	0.688	B	0.42214	0.38	T	0.74711	-0.3573	10	0.27785	T	0.31	-25.3429	16.0456	0.80720	1.0:0.0:0.0:0.0	.	100	P22680	CP7A1_HUMAN	I	100	ENSP00000301645:F100I	ENSP00000301645:F100I	F	-	1	0	CYP7A1	59573365	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.490000	0.81461	2.193000	0.70182	0.482000	0.46254	TTT		0.323	CYP7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378190.1	NM_000780		9	101	0	0	0	1	0	9	101				
PCYOX1	51449	broad.mit.edu	37	2	70503972	70503972	+	Silent	SNP	G	G	A	rs377606382		TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr2:70503972G>A	ENST00000433351.2	+	6	994	c.966G>A	c.(964-966)tcG>tcA	p.S322S	PCYOX1_ENST00000545138.1_Silent_p.S244S|PCYOX1_ENST00000264441.5_Intron|PCYOX1_ENST00000505044.2_Silent_p.S245S	NM_016297.3	NP_057381.3	Q9UHG3	PCYOX_HUMAN	prenylcysteine oxidase 1	322					prenylated protein catabolic process (GO:0030327)|prenylcysteine catabolic process (GO:0030328)|prenylcysteine metabolic process (GO:0030329)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	chloride-transporting ATPase activity (GO:0008555)|prenylcysteine oxidase activity (GO:0001735)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)	15						GAAAAATGTCGAATATTACTT	0.368																																						ENST00000433351.2																			0				breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)	15						c.(964-966)tcG>tcA		prenylcysteine oxidase 1		C		0,4406		0,0,2203	56.0	58.0	57.0		966	2.9	1.0	2		57	1,8599		0,1,4299	no	coding-synonymous	PCYOX1	NM_016297.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		322/506	70503972	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	51449				prenylated protein catabolic process	lysosome|very-low-density lipoprotein particle	prenylcysteine oxidase activity	g.chr2:70503972G>A	AB020715	CCDS1902.1	2p13.3	2008-02-05			ENSG00000116005	ENSG00000116005	1.8.3.5		20588	protein-coding gene	gene with protein product		610995				10585463, 12186880	Standard	NM_016297		Approved	KIAA0908, PCL1	uc002sgn.4	Q9UHG3	OTTHUMG00000129671	ENST00000433351.2:c.966G>A	2.37:g.70503972G>A						PCYOX1_ENST00000545138.1_Silent_p.S244S|PCYOX1_ENST00000264441.5_Intron|PCYOX1_ENST00000505044.2_Silent_p.S245S	p.S322S	NM_016297.3	NP_057381.3	Q9UHG3	PCYOX_HUMAN			6	994	+			322					B2RB14|B7Z9P8|O94982|Q8N4N5|Q96QM8	Silent	SNP	ENST00000433351.2	37	c.966G>A	CCDS1902.1																																																																																				0.368	PCYOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251872.3	NM_016297		4	46	0	0	0	1	0	4	46				
TMEM131	23505	broad.mit.edu	37	2	98392478	98392478	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr2:98392478T>C	ENST00000186436.5	-	32	4376	c.4148A>G	c.(4147-4149)aAa>aGa	p.K1383R		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1383	Lys-rich.					integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						AGGTTTTCCTTTCCCTGAGGA	0.438																																						ENST00000186436.5																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						c.(4147-4149)aAa>aGa		transmembrane protein 131							142.0	135.0	137.0					2																	98392478		1859	4094	5953	SO:0001583	missense	23505					integral to membrane		g.chr2:98392478T>C	AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.4148A>G	2.37:g.98392478T>C	ENSP00000186436:p.Lys1383Arg						p.K1383R	NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN			32	4376	-			1383			Lys-rich.			Missense_Mutation	SNP	ENST00000186436.5	37	c.4148A>G	CCDS46368.1	.	.	.	.	.	.	.	.	.	.	T	16.13	3.037036	0.54896	.	.	ENSG00000075568	ENST00000186436	T	0.18174	2.23	4.93	3.78	0.43462	.	0.236474	0.43260	N	0.000598	T	0.17023	0.0409	L	0.58101	1.795	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.03807	-1.1002	10	0.26408	T	0.33	-16.7179	10.5971	0.45345	0.0:0.0764:0.0:0.9236	.	1383	Q92545	TM131_HUMAN	R	1383	ENSP00000186436:K1383R	ENSP00000186436:K1383R	K	-	2	0	TMEM131	97758910	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	6.903000	0.75703	0.854000	0.35336	0.529000	0.55759	AAA		0.438	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	XM_371542		5	36	0	0	0	1	0	5	36				
TRPC4AP	26133	broad.mit.edu	37	20	33596524	33596524	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr20:33596524C>A	ENST00000252015.2	-	13	1627	c.1538G>T	c.(1537-1539)gGc>gTc	p.G513V	TRPC4AP_ENST00000539834.1_Missense_Mutation_p.G115V|TRPC4AP_ENST00000432634.2_Missense_Mutation_p.G474V|TRPC4AP_ENST00000451813.2_Missense_Mutation_p.G505V			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	513					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|protein ubiquitination (GO:0016567)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process (GO:0006511)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			AGTTAATAAGCCCCTCTTCCC	0.537																																						ENST00000252015.2																			0				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32						c.(1537-1539)gGc>gTc		transient receptor potential cation channel, subfamily C, member 4 associated protein							116.0	113.0	114.0					20																	33596524		2203	4300	6503	SO:0001583	missense	26133				protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding	g.chr20:33596524C>A	AF055022	CCDS13246.1, CCDS46591.1	20q11.23	2014-06-13	2003-10-06	2003-10-08	ENSG00000100991	ENSG00000100991			16181	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 158"""	608430	"""chromosome 20 open reading frame 188"""	C20orf188			Standard	NM_015638		Approved	DKFZP727M231, DKFZp586C1223, dJ756N5.2, TRRP4AP, PPP1R158	uc002xbk.3	Q8TEL6	OTTHUMG00000032319	ENST00000252015.2:c.1538G>T	20.37:g.33596524C>A	ENSP00000252015:p.Gly513Val					TRPC4AP_ENST00000432634.2_Missense_Mutation_p.G474V|TRPC4AP_ENST00000539834.1_Missense_Mutation_p.G115V|TRPC4AP_ENST00000451813.1_Missense_Mutation_p.G505V	p.G513V			Q8TEL6	TP4AP_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00936)		13	1627	-			513					E1P5Q0|E1P5Q1|Q96H82|Q9BVB8|Q9H429|Q9UFS6	Missense_Mutation	SNP	ENST00000252015.2	37	c.1538G>T	CCDS13246.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.941456	0.92526	.	.	ENSG00000100991	ENST00000252015;ENST00000451813;ENST00000539834;ENST00000432634;ENST00000541994	T;T;T;T	0.38722	1.12;1.12;1.12;1.12	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.66509	0.2796	M	0.69823	2.125	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.67507	-0.5653	10	0.87932	D	0	.	19.6982	0.96039	0.0:1.0:0.0:0.0	.	474;505;513	B4E0Q1;E1P5Q0;Q8TEL6	.;.;TP4AP_HUMAN	V	513;505;115;474;498	ENSP00000252015:G513V;ENSP00000400614:G505V;ENSP00000446090:G115V;ENSP00000400497:G474V	ENSP00000252015:G513V	G	-	2	0	TRPC4AP	33060185	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	7.207000	0.77899	2.894000	0.99253	0.655000	0.94253	GGC		0.537	TRPC4AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078832.2	NM_015638		6	66	1	0	0.00116845	1	0.00121481	6	66				
IFNAR1	3454	broad.mit.edu	37	21	34727622	34727622	+	Splice_Site	SNP	T	T	C			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr21:34727622T>C	ENST00000270139.3	+	11	1593	c.1441T>C	c.(1441-1443)Tat>Cat	p.Y481H	IFNAR1_ENST00000442357.2_Splice_Site_p.Y420H|IFNAR1_ENST00000416947.2_Splice_Site_p.Y412H	NM_000629.2	NP_000620.2	P17181	INAR1_HUMAN	interferon (alpha, beta and omega) receptor 1	481					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to virus (GO:0009615)|T cell activation (GO:0042110)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	type I interferon receptor activity (GO:0004905)			breast(2)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|skin(2)	14					"""""""Interferon Alfa-2a(DB00034)|""""Interferon Alfa-2b(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)|Natural alpha interferon(DB05258)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)"""	TTTAAATTAGTATTTCTCTGA	0.274																																					Esophageal Squamous(73;817 1211 32990 35667 42746)	ENST00000270139.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|skin(2)	14						c.e11-1		interferon (alpha, beta and omega) receptor 1	Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)						26.0	30.0	29.0					21																	34727622		2169	4278	6447	SO:0001630	splice_region_variant	3454				JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	integral to plasma membrane	type I interferon receptor activity	g.chr21:34727622T>C		CCDS13624.1	21q22.1	2008-05-02			ENSG00000142166	ENSG00000142166		"""Interferons"""	5432	protein-coding gene	gene with protein product		107450		IFNAR		8181059	Standard	NM_000629		Approved	IFRC	uc002yrn.3	P17181	OTTHUMG00000065126	ENST00000270139.3:c.1441-1T>C	21.37:g.34727622T>C						IFNAR1_ENST00000442357.2_Splice_Site_p.Y420_splice|IFNAR1_ENST00000416947.2_Splice_Site_p.Y412_splice	p.Y481_splice	NM_000629.2	NP_000620.2	P17181	INAR1_HUMAN			11	1593	+			481					B2R6L9|B4DNT3|D3DSF0|Q53GW9|Q53H11|Q6PKD7|Q7M4L2|Q8WTZ2	Splice_Site	SNP	ENST00000270139.3	37	c.1440_splice	CCDS13624.1	.	.	.	.	.	.	.	.	.	.	T	13.12	2.143240	0.37825	.	.	ENSG00000142166	ENST00000416947;ENST00000270139;ENST00000442357	T;T;T	0.64260	0.83;1.0;-0.09	5.89	0.268	0.15626	.	1.124290	0.06750	N	0.779898	T	0.55433	0.1920	M	0.72479	2.2	0.28319	N	0.922346	B	0.17268	0.021	B	0.17722	0.019	T	0.47623	-0.9103	9	.	.	.	-2.9864	1.7504	0.02970	0.2369:0.0846:0.1435:0.5349	.	481	P17181	INAR1_HUMAN	H	412;481;420	ENSP00000395606:Y412H;ENSP00000270139:Y481H;ENSP00000407406:Y420H	.	Y	+	1	0	IFNAR1	33649492	0.054000	0.20591	0.943000	0.38184	0.903000	0.53119	-0.612000	0.05616	0.457000	0.26962	0.533000	0.62120	TAT		0.274	IFNAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139823.4		Missense_Mutation	7	23	0	0	0	1	0	7	23				
MAVS	57506	broad.mit.edu	37	20	3845297	3845297	+	Silent	SNP	G	G	A	rs368658432		TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr20:3845297G>A	ENST00000428216.2	+	6	1148	c.1020G>A	c.(1018-1020)gcG>gcA	p.A340A	MAVS_ENST00000358134.6_3'UTR|MAVS_ENST00000416600.2_Silent_p.A199A	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	340					activation of innate immune response (GO:0002218)|cellular response to exogenous dsRNA (GO:0071360)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral genome replication (GO:0045071)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of IP-10 production (GO:0071660)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of peroxisome organization (GO:1900063)|RIG-I signaling pathway (GO:0039529)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	CARD domain binding (GO:0050700)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						CTTCTAATGCGCTCACCAATC	0.562																																						ENST00000428216.2																			0				autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						c.(1018-1020)gcG>gcA		mitochondrial antiviral signaling protein		G	,	0,4406		0,0,2203	137.0	123.0	128.0		597,1020	2.9	0.0	20		128	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	MAVS	NM_001206491.1,NM_020746.4	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	199/400,340/541	3845297	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57506				activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity	g.chr20:3845297G>A	DQ174270	CCDS33437.1, CCDS56176.1	20p13	2009-04-02			ENSG00000088888	ENSG00000088888			29233	protein-coding gene	gene with protein product	"""virus-induced signaling adaptor"", ""IFN-B promoter stimulator 1"", ""CARD adaptor inducing IFN-beta"""	609676				16125763, 16153868	Standard	NM_020746		Approved	VISA, KIAA1271, IPS-1, Cardif	uc002wjw.4	Q7Z434	OTTHUMG00000031765	ENST00000428216.2:c.1020G>A	20.37:g.3845297G>A						MAVS_ENST00000416600.2_Silent_p.A199A|MAVS_ENST00000358134.6_3'UTR	p.A340A	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN			6	1148	+			340					A8K6X0|B2BD33|B2BD34|F5H6C8|Q2HWT5|Q3I0Y2|Q5T7I6|Q86VY7|Q9H1H3|Q9H4Y1|Q9H8D3|Q9ULE9	Silent	SNP	ENST00000428216.2	37	c.1020G>A	CCDS33437.1																																																																																				0.562	MAVS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077784.3	NM_020746		7	87	0	0	0	1	0	7	87				
ABCC8	6833	broad.mit.edu	37	11	17482118	17482118	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr11:17482118C>T	ENST00000389817.3	-	6	996	c.928G>A	c.(928-930)Gac>Aac	p.D310N	ABCC8_ENST00000302539.4_Missense_Mutation_p.D310N			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	310	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.		D -> N (in HHF1). {ECO:0000269|PubMed:16429405}.		carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	CCCAGCAGGTCGGCCAAGATG	0.647																																						ENST00000302539.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67	GRCh37	CM060776	ABCC8	M		c.(928-930)Gac>Aac		ATP-binding cassette, sub-family C (CFTR/MRP), member 8	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)						87.0	85.0	86.0					11																	17482118		2200	4293	6493	SO:0001583	missense	6833				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity	g.chr11:17482118C>T	L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.928G>A	11.37:g.17482118C>T	ENSP00000374467:p.Asp310Asn					ABCC8_ENST00000389817.3_Missense_Mutation_p.D310N	p.D310N	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN		READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	6	1053	-			310		D -> N (in HHF1).	ABC transmembrane type-1 1.		A6NMX8|E3UYX6|O75948|Q16583	Missense_Mutation	SNP	ENST00000389817.3	37	c.928G>A	CCDS31437.1	.	.	.	.	.	.	.	.	.	.	C	36	5.792444	0.96945	.	.	ENSG00000006071	ENST00000389817;ENST00000302539;ENST00000379493	D;D	0.94000	-3.33;-3.33	5.53	5.53	0.82687	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);	0.000000	0.85682	D	0.000000	D	0.97114	0.9057	M	0.87971	2.92	0.80722	D	1	D;D	0.76494	0.994;0.999	D;D	0.70935	0.932;0.971	D	0.97061	0.9771	10	0.54805	T	0.06	.	19.4728	0.94969	0.0:1.0:0.0:0.0	.	309;310	B7Z4N0;Q09428	.;ABCC8_HUMAN	N	310;310;324	ENSP00000374467:D310N;ENSP00000303960:D310N	ENSP00000303960:D310N	D	-	1	0	ABCC8	17438694	1.000000	0.71417	0.974000	0.42286	0.978000	0.69477	7.818000	0.86416	2.608000	0.88229	0.561000	0.74099	GAC		0.647	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352		9	54	0	0	0	1	0	9	54				
PLCB1	23236	broad.mit.edu	37	20	8722154	8722154	+	Silent	SNP	G	G	A			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr20:8722154G>A	ENST00000338037.6	+	23	2484	c.2457G>A	c.(2455-2457)ctG>ctA	p.L819L	PLCB1_ENST00000378641.3_Silent_p.L819L|PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378637.2_Silent_p.L819L	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	819					activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						ATGTGAACCTGATGGAACAGA	0.368																																						ENST00000378641.3																			0				NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						c.(2455-2457)ctG>ctA		phospholipase C, beta 1 (phosphoinositide-specific)							139.0	126.0	130.0					20																	8722154		2203	4300	6503	SO:0001819	synonymous_variant	23236				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	g.chr20:8722154G>A	AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.2457G>A	20.37:g.8722154G>A						PLCB1_ENST00000378637.2_Silent_p.L819L|PLCB1_ENST00000338037.6_Silent_p.L819L|PLCB1_ENST00000494924.1_3'UTR	p.L819L	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN			23	2932	+			819					D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Silent	SNP	ENST00000338037.6	37	c.2457G>A	CCDS13102.1																																																																																				0.368	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3			3	36	0	0	0	1	0	3	36				
ZMYM6	9204	broad.mit.edu	37	1	35453023	35453023	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr1:35453023C>T	ENST00000357182.4	-	16	3887	c.3660G>A	c.(3658-3660)atG>atA	p.M1220I	ZMYM6_ENST00000373340.2_Intron|ZMYM6_ENST00000493328.1_5'UTR|RP11-244H3.1_ENST00000417456.1_RNA|ZMYM6_ENST00000487874.1_Intron|ZMYM6NB_ENST00000373337.3_5'Flank	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	1220					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				TTTGGTGATTCATAAAAGGGT	0.368																																						ENST00000357182.4																			0				breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44						c.(3658-3660)atG>atA		zinc finger, MYM-type 6							92.0	90.0	91.0					1																	35453023		1822	4081	5903	SO:0001583	missense	9204				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chr1:35453023C>T	AF055470	CCDS387.2	1p34.2	2014-05-12	2005-09-12	2005-09-12	ENSG00000163867	ENSG00000163867		"""Zinc fingers, MYM type"", ""Zinc fingers, BED-type"""	13050	protein-coding gene	gene with protein product	"""zinc finger, BED-type containing 7"""	613567	"""zinc finger protein 258"", ""zinc finger, MYM-type containing 6"""	ZNF258		10486218, 23533661	Standard	NM_007167		Approved	ZNF198L4, MYM, Buster2, ZBED7	uc001byh.3	O95789	OTTHUMG00000004163	ENST00000357182.4:c.3660G>A	1.37:g.35453023C>T	ENSP00000349708:p.Met1220Ile					ZMYM6_ENST00000487874.1_Intron|ZMYM6_ENST00000373340.2_Intron|ZMYM6_ENST00000493328.1_5'UTR	p.M1220I	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN			16	3887	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)	1220					B4DRJ6|Q32Q23|Q4G108|Q5SVZ9|Q5SW00|Q69YL4|Q96IY0|Q9NWF1|Q9P2J4	Missense_Mutation	SNP	ENST00000357182.4	37	c.3660G>A	CCDS387.2	.	.	.	.	.	.	.	.	.	.	C	2.030	-0.422573	0.04734	.	.	ENSG00000163867	ENST00000357182	T	0.21543	2.0	5.09	0.855	0.19013	Ribonuclease H-like (1);	0.575460	0.18611	N	0.136160	T	0.10551	0.0258	N	0.22421	0.69	0.21579	N	0.999632	B	0.02656	0.0	B	0.01281	0.0	T	0.32798	-0.9893	10	0.18276	T	0.48	6.5934	5.1473	0.14991	0.0:0.4684:0.3368:0.1948	.	1220	O95789	ZMYM6_HUMAN	I	1220	ENSP00000349708:M1220I	ENSP00000349708:M1220I	M	-	3	0	ZMYM6	35225610	0.000000	0.05858	0.184000	0.23157	0.973000	0.67179	-1.188000	0.03064	0.074000	0.16767	0.650000	0.86243	ATG		0.368	ZMYM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011999.1	NM_007167		12	57	0	0	0	1	0	12	57				
BTNL3	10917	broad.mit.edu	37	5	180424310	180424310	+	Silent	SNP	C	C	T			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr5:180424310C>T	ENST00000342868.6	+	3	679	c.495C>T	c.(493-495)gcC>gcT	p.A165A		NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	165	Ig-like V-type.					integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			AGCCCACAGCCAAGTGGAAAG	0.522																																						ENST00000342868.6																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25						c.(493-495)gcC>gcT		butyrophilin-like 3							103.0	93.0	96.0					5																	180424310		2148	3945	6093	SO:0001819	synonymous_variant	10917				lipid metabolic process	integral to membrane		g.chr5:180424310C>T	AB020625	CCDS47358.1	5q35	2014-01-14			ENSG00000168903	ENSG00000168903		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	1143	protein-coding gene	gene with protein product	"""butyrophilin-like receptor"""	606192				10429365	Standard	NM_197975		Approved	BTNLR, BTN9.1	uc003mmr.3	Q6UXE8	OTTHUMG00000162091	ENST00000342868.6:c.495C>T	5.37:g.180424310C>T							p.A165A	NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)		3	679	+	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	165			Ig-like V-type.		Q496L7|Q9Y2C7	Silent	SNP	ENST00000342868.6	37	c.495C>T	CCDS47358.1																																																																																				0.522	BTNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367176.2	NM_197975		11	53	0	0	0	1	0	11	53				
ZAN	7455	broad.mit.edu	37	7	100350592	100350592	+	RNA	SNP	T	T	C	rs112032841	byFrequency	TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr7:100350592T>C	ENST00000348028.3	+	0	3029				ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000349350.6_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCAGAAAAACTCACCATCCCC	0.512													N|||	10	0.00199681	0.0	0.0043	5008	,	,		19015	0.001		0.005	False		,,,				2504	0.001					ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							235.0	279.0	265.0					7																	100350592		1871	4095	5966			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100350592T>C	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100350592T>C						ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	3012	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.	.	.	.	.	.	.	.	.	.	C	4.962	0.178753	0.09443	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.63417	-0.04;-0.04;-0.04	2.8	2.8	0.32819	.	0.841065	0.09711	N	0.765773	T	0.36468	0.0968	N	0.02960	-0.455	0.18873	N	0.999988	B;B	0.06786	0.001;0.0	B;B	0.11329	0.006;0.001	T	0.23868	-1.0176	10	0.34782	T	0.22	.	8.2876	0.31939	0.0:0.8748:0.0:0.1252	.	955;955	F5H0T8;Q9Y493	.;ZAN_HUMAN	P	955	ENSP00000445943:L955P;ENSP00000445091:L955P;ENSP00000444427:L955P	ENSP00000423579:L955P	L	+	2	0	ZAN	100188528	0.000000	0.05858	0.004000	0.12327	0.001000	0.01503	0.000000	0.12993	0.748000	0.32831	-0.230000	0.12252	CTC		0.512	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		9	92	0	0	0	1	0	9	92				
NFIB	4781	broad.mit.edu	37	9	14150263	14150263	+	Splice_Site	SNP	C	C	T	rs368309534		TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr9:14150263C>T	ENST00000380959.3	-	5	1160	c.687G>A	c.(685-687)acG>acA	p.T229T	NFIB_ENST00000380924.1_5'UTR|NFIB_ENST00000397579.2_Splice_Site_p.T229T|NFIB_ENST00000543693.1_5'UTR|NFIB_ENST00000397581.2_Splice_Site_p.T229T|NFIB_ENST00000380953.1_Splice_Site_p.T229T|NFIB_ENST00000380934.4_Splice_Site_p.T255T|NFIB_ENST00000397575.3_Splice_Site_p.T229T	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN	nuclear factor I/B	229					anterior commissure morphogenesis (GO:0021960)|chondrocyte differentiation (GO:0002062)|Clara cell differentiation (GO:0060486)|commissural neuron axon guidance (GO:0071679)|DNA replication (GO:0006260)|glial cell differentiation (GO:0010001)|hindbrain development (GO:0030902)|lung ciliated cell differentiation (GO:0061141)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell proliferation involved in lung morphogenesis (GO:2000795)|negative regulation of mesenchymal cell proliferation involved in lung development (GO:2000791)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|principal sensory nucleus of trigeminal nerve development (GO:0021740)|transcription from RNA polymerase II promoter (GO:0006366)|Type I pneumocyte differentiation (GO:0060509)|Type II pneumocyte differentiation (GO:0060510)	cerebellar mossy fiber (GO:0044300)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		GGGTTATGGGCGCTGAGGAAT	0.438			T	"""MYB, HGMA2"""	"""adenoid cystic carcinoma, lipoma"""																																Esophageal Squamous(132;921 1730 14828 40753 46471)	ENST00000380959.3				Dom	yes		9	9p24.1	4781	T	nuclear factor I/B			E	"""MYB, HGMA2"""		"""adenoid cystic carcinoma, lipoma"""		0				central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17						c.e5-1		nuclear factor I/B		C	,,	0,4406		0,0,2203	220.0	222.0	222.0		687,765,687	-10.1	0.5	9		222	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice	NFIB	NM_001190737.1,NM_001190738.1,NM_005596.3	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	229/495,255/447,229/421	14150263	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	4781				anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity	g.chr9:14150263C>T	U07810	CCDS6474.1, CCDS55291.1, CCDS55292.1, CCDS65007.1	9p24.1	2008-02-05			ENSG00000147862	ENSG00000147862			7785	protein-coding gene	gene with protein product		600728				7590749	Standard	NM_001190737		Approved	NFI-RED, NFIB2, NFIB3	uc003zlf.3	O00712	OTTHUMG00000021027	ENST00000380959.3:c.686-1G>A	9.37:g.14150263C>T						NFIB_ENST00000543693.1_5'UTR|NFIB_ENST00000397575.3_Splice_Site_p.T229_splice|NFIB_ENST00000380953.1_Splice_Site_p.T229_splice|NFIB_ENST00000397581.2_Splice_Site_p.T229_splice|NFIB_ENST00000397579.2_Splice_Site_p.T229_splice|NFIB_ENST00000380924.1_5'UTR|NFIB_ENST00000380934.4_Splice_Site_p.T255_splice	p.T229_splice	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN		GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)	5	1160	-			229					G3V1P1|H7BYE8|O00166|Q12858|Q5VW29|Q63HM5|Q6ZNF9|Q96J45	Splice_Site	SNP	ENST00000380959.3	37	c.685_splice	CCDS6474.1																																																																																				0.438	NFIB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055468.1	NM_005596	Silent	93	88	0	0	0	1	0	93	88				
PNPLA7	375775	broad.mit.edu	37	9	140400147	140400147	+	Silent	SNP	C	C	A			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr9:140400147C>A	ENST00000277531.4	-	13	1503	c.1317G>T	c.(1315-1317)acG>acT	p.T439T	PNPLA7_ENST00000371457.1_Silent_p.T45T|PNPLA7_ENST00000406427.1_Silent_p.T464T	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	439				FLHSDEHPGSSVASKSRKSVMVAEIPSTVSQHSESHTDETL ASRKSDAIFRAAKKDLLTLMKLEDSSLLDG -> LCLLPQC LGGLPPTDTSVYSSASSDCCGCSMPVLCIMGHKPHVTVDT (in Ref. 1; BAC86509). {ECO:0000305}.	lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GGGTCTCATCCGTGTGACTCT	0.587																																						ENST00000406427.1																			0				breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(1390-1392)acG>acT		patatin-like phospholipase domain containing 7							165.0	146.0	152.0					9																	140400147		2203	4300	6503	SO:0001819	synonymous_variant	375775				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity	g.chr9:140400147C>A	AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"""Patatin-like phospholipase domain containing"""	24768	protein-coding gene	gene with protein product		612122	"""chromosome 9 open reading frame 111"""	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.1317G>T	9.37:g.140400147C>A						PNPLA7_ENST00000277531.4_Silent_p.T439T|PNPLA7_ENST00000371457.1_Silent_p.T45T	p.T464T	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)	14	1728	-	all_cancers(76;0.126)		439	FLHSDEHPGSSVASKSRKSVMVAEIPSTVSQHSESHTDETL ASRKSDAIFRAAKKDLLTLMKLEDSSLLDG -> LCLLPQC LGGLPPTDTSVYSSASSDCCGCSMPVLCIMGHKPHVTVDT (in Ref. 1; BAC86509).				B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Silent	SNP	ENST00000277531.4	37	c.1392G>T	CCDS7045.1																																																																																				0.587	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1	NM_152286		5	101	1	0	1.23904e-05	1	1.30899e-05	5	101				
ARL5A	26225	broad.mit.edu	37	2	152659794	152659794	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr2:152659794C>G	ENST00000295087.8	-	6	847	c.536G>C	c.(535-537)aGa>aCa	p.R179T	ARL5A_ENST00000428992.2_Missense_Mutation_p.R142T	NM_001037174.1|NM_012097.3	NP_001032251.1|NP_036229.1	Q9Y689	ARL5A_HUMAN	ADP-ribosylation factor-like 5A	179					small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			breast(1)|large_intestine(2)|liver(1)|lung(2)	6				BRCA - Breast invasive adenocarcinoma(221;0.153)		TAGAGATCATCTAATCTTAAG	0.313																																						ENST00000295087.8																			0				breast(1)|large_intestine(2)|liver(1)|lung(2)	6						c.(535-537)aGa>aCa		ADP-ribosylation factor-like 5A							61.0	59.0	60.0					2																	152659794		2203	4298	6501	SO:0001583	missense	26225				small GTPase mediated signal transduction	intracellular	GTP binding	g.chr2:152659794C>G	AF100740	CCDS2195.1, CCDS46425.1	2q23.3	2014-05-09	2005-11-03	2005-11-03	ENSG00000162980	ENSG00000162980		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	696	protein-coding gene	gene with protein product		608960	"""ADP-ribosylation factor-like 5"""	ARL5			Standard	NM_012097		Approved		uc002txx.1	Q9Y689	OTTHUMG00000131887	ENST00000295087.8:c.536G>C	2.37:g.152659794C>G	ENSP00000295087:p.Arg179Thr					ARL5A_ENST00000428992.2_Missense_Mutation_p.R142T	p.R179T	NM_001037174.1|NM_012097.3	NP_001032251.1|NP_036229.1	Q9Y689	ARL5A_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.153)	6	847	-			179					Q580I5	Missense_Mutation	SNP	ENST00000295087.8	37	c.536G>C	CCDS2195.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.430440	0.83776	.	.	ENSG00000162980	ENST00000295087;ENST00000452215;ENST00000428992	T;T	0.61510	0.1;0.28	6.16	5.29	0.74685	.	0.142257	0.64402	D	0.000002	T	0.67720	0.2923	L	0.59967	1.855	0.58432	D	0.99999	D	0.59767	0.986	P	0.55455	0.776	T	0.71941	-0.4440	10	0.87932	D	0	.	15.4433	0.75204	0.0:0.9339:0.0:0.0661	.	179	Q9Y689	ARL5A_HUMAN	T	179;142;142	ENSP00000295087:R179T;ENSP00000415950:R142T	ENSP00000295087:R179T	R	-	2	0	ARL5A	152368040	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.781000	0.68964	1.612000	0.50221	0.650000	0.86243	AGA		0.313	ARL5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254837.1			4	27	0	0	0	1	0	4	27				
FAM86A	196483	broad.mit.edu	37	16	5145467	5145467	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr16:5145467C>T	ENST00000427587.4	-	2	213	c.145G>A	c.(145-147)Gat>Aat	p.D49N	FAM86A_ENST00000458008.4_Missense_Mutation_p.D49N|FAM86A_ENST00000587133.1_Missense_Mutation_p.D49N	NM_201400.2	NP_958802.1	Q96G04	FA86A_HUMAN	family with sequence similarity 86, member A	49						cytoplasm (GO:0005737)				endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						TGCAAAATATCCCGCAGCAGC	0.488																																						ENST00000427587.4																			0				endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						c.(145-147)Gat>Aat		family with sequence similarity 86, member A							65.0	67.0	67.0					16																	5145467		2197	4296	6493	SO:0001583	missense	196483							g.chr16:5145467C>T	BC010084	CCDS10529.1, CCDS10530.1, CCDS73823.1	16p13.3	2012-11-07			ENSG00000118894	ENSG00000118894			32221	protein-coding gene	gene with protein product		615263					Standard	NM_201400		Approved	SB153, MGC19636	uc002cyo.2	Q96G04	OTTHUMG00000129527	ENST00000427587.4:c.145G>A	16.37:g.5145467C>T	ENSP00000398502:p.Asp49Asn					FAM86A_ENST00000458008.4_Missense_Mutation_p.D49N|FAM86A_ENST00000587133.1_Missense_Mutation_p.D49N	p.D49N	NM_201400.2	NP_958802.1	Q96G04	FA86A_HUMAN			2	213	-			49					D3DUF0|Q96S85	Missense_Mutation	SNP	ENST00000427587.4	37	c.145G>A	CCDS10529.1	.	.	.	.	.	.	.	.	.	.	C	6.551	0.469941	0.12461	.	.	ENSG00000118894	ENST00000458008;ENST00000427587	T;T	0.20200	2.09;2.09	4.06	0.775	0.18527	.	0.439260	0.21226	U	0.078062	T	0.12817	0.0311	L	0.38531	1.155	0.27183	N	0.960606	B;B	0.17038	0.02;0.011	B;B	0.17979	0.02;0.013	T	0.31998	-0.9923	10	0.13108	T	0.6	.	7.3561	0.26719	0.0:0.6579:0.0:0.3421	.	49;49	Q96G04-2;Q96G04	.;FA86A_HUMAN	N	49	ENSP00000389710:D49N;ENSP00000398502:D49N	ENSP00000398502:D49N	D	-	1	0	FAM86A	5085468	0.996000	0.38824	0.933000	0.37362	0.074000	0.17049	0.131000	0.15870	0.399000	0.25367	-0.380000	0.06706	GAT		0.488	FAM86A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251713.1	NM_201400		7	60	0	0	0	1	0	7	60				
CALM2	805	broad.mit.edu	37	2	47389661	47389661	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr2:47389661C>G	ENST00000272298.7	-	3	332	c.175G>C	c.(175-177)Gat>Cat	p.D59H	CALM2_ENST00000484408.1_5'UTR|CALM2_ENST00000409563.1_Missense_Mutation_p.D106H|RP11-761B3.1_ENST00000422269.1_Intron	NM_001743.4	NP_001734.1	P62158	CALM_HUMAN	calmodulin 2 (phosphorylase kinase, delta)	59	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|detection of calcium ion (GO:0005513)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide metabolic process (GO:0046209)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cyclic nucleotide metabolic process (GO:0030801)|positive regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051343)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of cytokinesis (GO:0032465)|regulation of heart rate (GO:0002027)|regulation of high voltage-gated calcium channel activity (GO:1901841)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|response to corticosterone (GO:0051412)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcomere (GO:0030017)|spindle microtubule (GO:0005876)|spindle pole (GO:0000922)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|N-terminal myristoylation domain binding (GO:0031997)|nitric-oxide synthase regulator activity (GO:0030235)|phospholipase binding (GO:0043274)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|protein phosphatase activator activity (GO:0072542)|protein serine/threonine kinase activator activity (GO:0043539)|thioesterase binding (GO:0031996)|titin binding (GO:0031432)	p.0?(2)		kidney(1)|large_intestine(2)|lung(1)|skin(1)	5		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)		Aprindine(DB01429)|Bepridil(DB01244)|Chlorpromazine(DB00477)|Cinchocaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Melatonin(DB01065)|Nicardipine(DB00622)|Nifedipine(DB01115)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)|Trifluoperazine(DB00831)	GACTTACCATCAGCATCTACT	0.398																																						ENST00000272298.7																			2	Whole gene deletion(2)	p.0?(2)	haematopoietic_and_lymphoid_tissue(2)	kidney(1)|large_intestine(2)|lung(1)|skin(1)	5						c.(175-177)Gat>Cat		calmodulin 2 (phosphorylase kinase, delta)	Aprindine(DB01429)|Bepridil(DB01244)|Dibucaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Miconazole(DB01110)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)						127.0	123.0	125.0					2																	47389661		2203	4300	6503	SO:0001583	missense	805				activation of phospholipase C activity|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen catabolic process|muscle contraction|negative regulation of ryanodine-sensitive calcium-release channel activity|nerve growth factor receptor signaling pathway|nitric oxide metabolic process|platelet activation|platelet degranulation|positive regulation of ryanodine-sensitive calcium-release channel activity|regulation of cytokinesis|regulation of nitric-oxide synthase activity|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to calcium ion|synaptic transmission	centrosome|cytosol|extracellular region|nucleoplasm|plasma membrane|spindle microtubule|spindle pole	calcium ion binding|N-terminal myristoylation domain binding|phospholipase binding|protein domain specific binding|thioesterase binding|titin binding	g.chr2:47389661C>G		CCDS1832.1	2p21.3-p21.1	2013-02-25			ENSG00000143933	ENSG00000143933		"""EF-hand domain containing"", ""Endogenous ligands"""	1445	protein-coding gene	gene with protein product	"""prepro-calmodulin 2"""	114182					Standard	NM_001743		Approved	PHKD, CAMII	uc002rvt.2	P62158	OTTHUMG00000128850	ENST00000272298.7:c.175G>C	2.37:g.47389661C>G	ENSP00000272298:p.Asp59His					CALM2_ENST00000409563.1_Missense_Mutation_p.D106H|CALM2_ENST00000422269.1_Intron	p.D59H	NM_001743.4	NP_001734.1	P62158	CALM_HUMAN	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)		3	332	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	59			EF-hand 2.		P02593|P70667|P99014|Q13942|Q53S29|Q61379|Q61380|Q96HK3	Missense_Mutation	SNP	ENST00000272298.7	37	c.175G>C	CCDS1832.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.284336	0.80803	.	.	ENSG00000143933	ENST00000272298;ENST00000456319;ENST00000409563	T;T;T	0.75704	-0.96;-0.96;-0.96	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	D	0.86180	0.5871	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.86883	0.2043	7	0.87932	D	0	.	19.7939	0.96471	0.0:1.0:0.0:0.0	.	.	.	.	H	59;97;106	ENSP00000272298:D59H;ENSP00000411440:D97H;ENSP00000387065:D106H	ENSP00000272298:D59H	D	-	1	0	CALM2	47243165	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.782000	0.85680	2.784000	0.95788	0.591000	0.81541	GAT		0.398	CALM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250789.3	NM_001743		5	101	0	0	0	1	0	5	101				
LTBP2	4053	broad.mit.edu	37	14	75078171	75078171	+	Silent	SNP	C	C	T			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr14:75078171C>T	ENST00000261978.4	-	1	863	c.477G>A	c.(475-477)ccG>ccA	p.P159P	LTBP2_ENST00000556690.1_Silent_p.P159P|LTBP2_ENST00000557425.1_Intron	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	159					protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GCCGCCCTCGCGGCGGGGTTG	0.731																																						ENST00000261978.4																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(475-477)ccG>ccA		latent transforming growth factor beta binding protein 2							22.0	30.0	28.0					14																	75078171		1609	3312	4921	SO:0001819	synonymous_variant	4053				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	g.chr14:75078171C>T		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"""Latent transforming growth factor, beta binding proteins"""	6715	protein-coding gene	gene with protein product		602091	"""chromosome 14 open reading frame 141"""	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.477G>A	14.37:g.75078171C>T						LTBP2_ENST00000557425.1_Intron|LTBP2_ENST00000556690.1_Silent_p.P159P	p.P159P	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	1	863	-			159					Q99907|Q9NS51	Silent	SNP	ENST00000261978.4	37	c.477G>A	CCDS9831.1																																																																																				0.731	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428		7	17	0	0	0	1	0	7	17				
DDX11	1663	broad.mit.edu	37	12	31242413	31242413	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr12:31242413G>A	ENST00000407793.2	+	8	1120	c.869G>A	c.(868-870)aGa>aAa	p.R290K	DDX11_ENST00000545668.1_Missense_Mutation_p.R290K|DDX11_ENST00000228264.6_Missense_Mutation_p.R264K|DDX11_ENST00000350437.4_Missense_Mutation_p.R290K|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000542838.1_Missense_Mutation_p.R290K	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	290	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GACATGCAGAGAAGCAGGCAC	0.517										Multiple Myeloma(12;0.14)																												ENST00000407793.2																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57						c.(868-870)aGa>aAa		DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11							37.0	46.0	43.0					12																	31242413		2203	4300	6503	SO:0001583	missense	1663				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding	g.chr12:31242413G>A	U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"""DEAD-boxes"""	2736	protein-coding gene	gene with protein product	"""CHL1-like helicase homolog (S. cerevisiae)"""	601150	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)"", ""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"""				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.869G>A	12.37:g.31242413G>A	ENSP00000384703:p.Arg290Lys	Multiple Myeloma(12;0.14)				DDX11_ENST00000228264.6_Missense_Mutation_p.R264K|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000545668.1_Missense_Mutation_p.R290K|DDX11_ENST00000350437.4_Missense_Mutation_p.R290K|DDX11_ENST00000542838.1_Missense_Mutation_p.R290K	p.R290K	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN			8	1120	+	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)		290			Helicase ATP-binding.		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000407793.2	37	c.869G>A	CCDS44856.1	.	.	.	.	.	.	.	.	.	.	G	3.979	-0.006767	0.07773	.	.	ENSG00000013573	ENST00000542838;ENST00000407793;ENST00000228264;ENST00000438391;ENST00000545668;ENST00000350437	T;T;T;T;T;T	0.69685	-0.42;-0.42;-0.42;-0.42;-0.42;-0.42	3.45	2.43	0.29744	DEAD2 (1);Helicase-like, DEXD box c2 type (1);Helicase, superfamily 1/2, ATP-binding domain, DinG/Rad3-type (1);	0.360293	0.32868	N	0.005552	T	0.30572	0.0769	N	0.02129	-0.67	0.80722	D	1	B;B;B	0.21520	0.057;0.002;0.008	B;B;B	0.23275	0.045;0.006;0.012	T	0.38045	-0.9679	10	0.02654	T	1	.	7.5951	0.28044	0.1489:0.0:0.8511:0.0	.	290;290;290	Q96FC9;Q96FC9-4;Q96FC9-2	DDX11_HUMAN;.;.	K	290;290;264;261;290;290	ENSP00000443426:R290K;ENSP00000384703:R290K;ENSP00000228264:R264K;ENSP00000407646:R261K;ENSP00000440402:R290K;ENSP00000309965:R290K	ENSP00000228264:R264K	R	+	2	0	DDX11	31133680	1.000000	0.71417	0.426000	0.26672	0.019000	0.09904	5.532000	0.67154	1.751000	0.51876	0.505000	0.49811	AGA		0.517	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399728.1	NM_030653		3	28	0	0	0	1	0	3	28				
AADACL3	126767	broad.mit.edu	37	1	12785713	12785713	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr1:12785713C>T	ENST00000359318.5	+	4	1008	c.803C>T	c.(802-804)cCc>cTc	p.P268L	AADACL3_ENST00000332530.3_Missense_Mutation_p.P198L	NM_001103170.1	NP_001096640.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	268							hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		ATGTGCTCGCCCCTGATTGCA	0.493																																						ENST00000332530.3																			0				breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15						c.(592-594)cCc>cTc		arylacetamide deacetylase-like 3							111.0	112.0	112.0					1																	12785713		2078	4216	6294	SO:0001583	missense	126767						hydrolase activity	g.chr1:12785713C>T		CCDS41253.1	1p36.21	2014-07-17			ENSG00000188984	ENSG00000188984			32037	protein-coding gene	gene with protein product							Standard	XM_006710337		Approved	OTTHUMG00000001887	uc009vnn.1	Q5VUY0	OTTHUMG00000001887	ENST00000359318.5:c.803C>T	1.37:g.12785713C>T	ENSP00000352268:p.Pro268Leu					AADACL3_ENST00000359318.5_Missense_Mutation_p.P268L	p.P198L	NM_001103169.1	NP_001096639.1	Q5VUY0	ADCL3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	3	819	+	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	268					B3KXR9|Q5VUY1	Missense_Mutation	SNP	ENST00000359318.5	37	c.593C>T	CCDS41253.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.527405	0.85706	.	.	ENSG00000188984	ENST00000332530;ENST00000359318	T;T	0.17691	2.26;2.26	5.56	4.65	0.58169	Alpha/beta hydrolase fold-3 (1);	0.053162	0.85682	D	0.000000	T	0.53981	0.1830	H	0.96048	3.76	0.80722	D	1	P;D	0.67145	0.894;0.996	P;D	0.64776	0.861;0.929	T	0.72020	-0.4416	10	0.87932	D	0	-22.1615	15.6758	0.77321	0.0:0.863:0.137:0.0	.	268;198	Q5VUY0;Q5VUY0-2	ADCL3_HUMAN;.	L	198;268	ENSP00000333352:P198L;ENSP00000352268:P268L	ENSP00000333352:P198L	P	+	2	0	AADACL3	12708300	0.994000	0.37717	0.093000	0.20910	0.313000	0.28021	3.732000	0.55021	1.340000	0.45581	0.484000	0.47621	CCC		0.493	AADACL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005324.2	NM_001103170		14	55	0	0	0	1	0	14	55				
ALG1L	200810	broad.mit.edu	37	3	125652459	125652459	+	Missense_Mutation	SNP	C	C	T	rs368430945		TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr3:125652459C>T	ENST00000340333.3	-	2	222	c.59G>A	c.(58-60)cGc>cAc	p.R20H		NM_001015050.2|NM_001195223.1	NP_001015050.2|NP_001182152.1	Q6GMV1	ALG1L_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like	20							transferase activity, transferring glycosyl groups (GO:0016757)			large_intestine(2)|lung(2)	4						TGGCCACTCGCGGAGATGCAT	0.622																																						ENST00000340333.3																			0				large_intestine(2)|lung(2)	4						c.(58-60)cGc>cAc		ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like		C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	24.0	23.0	24.0		59,119	-1.2	0.0	3		24	1,8597		0,1,4298	no	missense,missense	ALG1L	NM_001015050.2,NM_001195223.1	29,29	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	20/188,40/208	125652459	1,13003	2203	4299	6502	SO:0001583	missense	200810						transferase activity, transferring glycosyl groups	g.chr3:125652459C>T	BC073816	CCDS33840.1, CCDS74998.1	3q21.2	2013-02-22	2013-02-22		ENSG00000189366	ENSG00000189366		"""Glycosyltransferase group 1 domain containing"""	33721	protein-coding gene	gene with protein product	"""asparagine-linked glycosylation 1-like 1"""		"""asparagine-linked glycosylation 1-like"""				Standard	NM_001015050		Approved	ALG1L1	uc003eig.2	Q6GMV1	OTTHUMG00000159588	ENST00000340333.3:c.59G>A	3.37:g.125652459C>T	ENSP00000340009:p.Arg20His						p.R20H	NM_001015050.2|NM_001195223.1	NP_001015050.2|NP_001182152.1	Q6GMV1	ALG1L_HUMAN			2	222	-			20					D3DNA5	Missense_Mutation	SNP	ENST00000340333.3	37	c.59G>A	CCDS33840.1	.	.	.	.	.	.	.	.	.	.	.	1.673	-0.508595	0.04231	0.0	1.16E-4	ENSG00000189366	ENST00000340333	T	0.70516	-0.49	2.11	-1.24	0.09435	.	1.369320	0.03938	N	0.286472	T	0.47619	0.1455	N	0.04820	-0.15	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.29397	-1.0013	10	0.31617	T	0.26	1.3038	6.1424	0.20266	0.0:0.3034:0.0:0.6966	.	20	Q6GMV1	ALG1L_HUMAN	H	20	ENSP00000340009:R20H	ENSP00000340009:R20H	R	-	2	0	ALG1L	127135149	0.000000	0.05858	0.004000	0.12327	0.019000	0.09904	-1.490000	0.02304	-0.172000	0.10779	0.162000	0.16502	CGC		0.622	ALG1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356347.1	NM_001015050		6	20	0	0	0	1	0	6	20				
MME	4311	broad.mit.edu	37	3	154898213	154898213	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr3:154898213T>C	ENST00000460393.1	+	23	2338	c.2218T>C	c.(2218-2220)Tac>Cac	p.Y740H	MME_ENST00000462745.1_Missense_Mutation_p.Y740H|MME_ENST00000360490.2_Missense_Mutation_p.Y740H|MME_ENST00000492661.1_Missense_Mutation_p.Y740H|MME_ENST00000493237.1_Missense_Mutation_p.Y740H|MME-AS1_ENST00000484721.1_RNA	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	740					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	CAAGAATTCATACATGAATCC	0.428																																						ENST00000460393.1																			0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64						c.(2218-2220)Tac>Cac		membrane metallo-endopeptidase	Candoxatril(DB00616)						106.0	113.0	111.0					3																	154898213		2203	4300	6503	SO:0001583	missense	4311				cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr3:154898213T>C		CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"""CD molecules"""	7154	protein-coding gene	gene with protein product	"""neutral endopeptidase"", ""enkephalinase"", ""neprilysin"""	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	ENST00000460393.1:c.2218T>C	3.37:g.154898213T>C	ENSP00000418525:p.Tyr740His					MME_ENST00000492661.1_Missense_Mutation_p.Y740H|MME_ENST00000360490.2_Missense_Mutation_p.Y740H|MME_ENST00000493237.1_Missense_Mutation_p.Y740H|MME-AS1_ENST00000484721.1_RNA|MME_ENST00000462745.1_Missense_Mutation_p.Y740H	p.Y740H	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		23	2338	+		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	740					A8K6U6|D3DNJ9|Q3MIX4	Missense_Mutation	SNP	ENST00000460393.1	37	c.2218T>C	CCDS3172.1	.	.	.	.	.	.	.	.	.	.	T	9.654	1.142284	0.21205	.	.	ENSG00000196549	ENST00000492661;ENST00000460393;ENST00000462745;ENST00000493237;ENST00000360490	D;D;D;D;D	0.90133	-2.62;-2.62;-2.62;-2.62;-2.62	5.65	5.65	0.86999	Peptidase M13, neprilysin, C-terminal (1);Metallopeptidase, catalytic domain (1);	0.123205	0.56097	D	0.000026	D	0.85066	0.5612	L	0.38175	1.15	0.41847	D	0.99015	B	0.19817	0.039	B	0.25405	0.06	T	0.79680	-0.1702	10	0.20046	T	0.44	-14.7823	10.8908	0.46994	0.1396:0.0:0.0:0.8604	.	740	P08473	NEP_HUMAN	H	740	ENSP00000420389:Y740H;ENSP00000418525:Y740H;ENSP00000419653:Y740H;ENSP00000417079:Y740H;ENSP00000353679:Y740H	ENSP00000353679:Y740H	Y	+	1	0	MME	156380907	1.000000	0.71417	0.920000	0.36463	0.957000	0.61999	3.273000	0.51623	2.146000	0.66826	0.528000	0.53228	TAC		0.428	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351076.1	NM_000902		30	87	0	0	0	1	0	30	87				
SHCBP1L	81626	broad.mit.edu	37	1	182898852	182898852	+	Missense_Mutation	SNP	C	C	T	rs141913952		TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr1:182898852C>T	ENST00000367547.3	-	6	1348	c.1112G>A	c.(1111-1113)cGt>cAt	p.R371H	SHCBP1L_ENST00000488956.1_5'UTR|SHCBP1L_ENST00000423786.1_Missense_Mutation_p.R252H	NM_030933.2	NP_112195.2	Q9BZQ2	SHP1L_HUMAN	SHC SH2-domain binding protein 1-like	443										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						TCCTTTCCTACGCCTCAGAAT	0.289													C|||	1	0.000199681	0.0	0.0	5008	,	,		17742	0.0		0.001	False		,,,				2504	0.0					ENST00000367547.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						c.(1111-1113)cGt>cAt		SHC SH2-domain binding protein 1-like		C	HIS/ARG	4,4400	8.1+/-20.4	0,4,2198	102.0	99.0	100.0		1112	5.9	1.0	1	dbSNP_134	100	0,8598		0,0,4299	yes	missense	SHCBP1L	NM_030933.2	29	0,4,6497	TT,TC,CC		0.0,0.0908,0.0308	probably-damaging	371/654	182898852	4,12998	2202	4299	6501	SO:0001583	missense	81626							g.chr1:182898852C>T	AF288397	CCDS30955.1	1q25	2011-01-24	2011-01-24	2011-01-24	ENSG00000157060	ENSG00000157060			16788	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 14"""	C1orf14		11318611	Standard	NM_030933		Approved		uc001gpu.3	Q9BZQ2	OTTHUMG00000035419	ENST00000367547.3:c.1112G>A	1.37:g.182898852C>T	ENSP00000356518:p.Arg371His					SHCBP1L_ENST00000423786.1_Missense_Mutation_p.R252H|SHCBP1L_ENST00000488956.1_5'UTR	p.R371H	NM_030933.2	NP_112195.2	Q9BZQ2	SHP1L_HUMAN			6	1348	-			443					Q4G195|Q9BZQ3|Q9H2B6	Missense_Mutation	SNP	ENST00000367547.3	37	c.1112G>A	CCDS30955.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	26.7	4.764560	0.89932	9.08E-4	0.0	ENSG00000157060	ENST00000367547;ENST00000287709;ENST00000423786	T;T	0.48522	0.81;0.83	5.88	5.88	0.94601	.	0.288604	0.25500	N	0.030259	T	0.59500	0.2198	L	0.50333	1.59	0.30874	N	0.732192	P;D;D	0.58620	0.95;0.983;0.97	P;P;P	0.57371	0.513;0.819;0.707	T	0.60757	-0.7200	10	0.46703	T	0.11	-4.3934	17.1981	0.86899	0.0:1.0:0.0:0.0	.	443;252;371	Q9BZQ2;Q9BZQ2-2;Q9BZQ2-3	SHP1L_HUMAN;.;.	H	371;440;252	ENSP00000356518:R371H;ENSP00000397308:R252H	ENSP00000287709:R440H	R	-	2	0	SHCBP1L	181165475	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.458000	0.60095	2.800000	0.96347	0.644000	0.83932	CGT		0.289	SHCBP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085956.1	NM_030933		10	25	0	0	0	1	0	10	25				
RBBP8	5932	broad.mit.edu	37	18	20516826	20516826	+	Silent	SNP	G	G	A	rs141481899	byFrequency	TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr18:20516826G>A	ENST00000399722.2	+	2	363	c.12G>A	c.(10-12)tcG>tcA	p.S4S	RBBP8_ENST00000327155.5_Silent_p.S4S|RBBP8_ENST00000360790.5_Silent_p.S4S|RBBP8_ENST00000399725.2_Silent_p.S4S	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	4				S -> L (in Ref. 1; AAC14371). {ECO:0000305}.	blastocyst hatching (GO:0001835)|cell cycle checkpoint (GO:0000075)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|G2 DNA damage checkpoint (GO:0031572)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	damaged DNA binding (GO:0003684)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			TGAACATCTCGGGAAGCAGCT	0.388								Homologous recombination					G|||	3	0.000599042	0.0023	0.0	5008	,	,		17279	0.0		0.0	False		,,,				2504	0.0					ENST00000399722.2																			0				central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24						c.(10-12)tcG>tcA	Homologous recombination	retinoblastoma binding protein 8		G	,,	8,4398	14.3+/-33.2	0,8,2195	156.0	154.0	155.0		12,12,12	-2.9	1.0	18	dbSNP_134	155	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	RBBP8	NM_002894.2,NM_203291.1,NM_203292.1	,,	0,8,6495	AA,AG,GG		0.0,0.1816,0.0615	,,	4/898,4/898,4/868	20516826	8,12998	2203	4300	6503	SO:0001819	synonymous_variant	5932				cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity	g.chr18:20516826G>A	AF043431	CCDS11874.1, CCDS11875.1	18q11.2	2012-11-05	2001-11-28		ENSG00000101773	ENSG00000101773			9891	protein-coding gene	gene with protein product	"""CTBP-interacting protein"""	604124	"""retinoblastoma-binding protein 8"", ""Seckel syndrome 2"""	SCKL2		9721205, 17965729, 21998596	Standard	NM_002894		Approved	CtIP, RIM, COM1	uc002ktw.3	Q99708	OTTHUMG00000131769	ENST00000399722.2:c.12G>A	18.37:g.20516826G>A						RBBP8_ENST00000360790.5_Silent_p.S4S|RBBP8_ENST00000327155.5_Silent_p.S4S|RBBP8_ENST00000399725.2_Silent_p.S4S	p.S4S	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;0.00196)		2	363	+	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		4	S -> L (in Ref. 1; AAC14371).				A6NKN2|A8K8W6|E7ETY1|O75371|Q8NHQ3	Silent	SNP	ENST00000399722.2	37	c.12G>A	CCDS11875.1																																																																																				0.388	RBBP8-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446387.1	NM_203291		22	66	0	0	0	1	0	22	66				
KMT2A	4297	broad.mit.edu	37	11	118376894	118376894	+	Silent	SNP	C	C	T			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr11:118376894C>T	ENST00000389506.5	+	27	10278	c.10278C>T	c.(10276-10278)atC>atT	p.I3426I	KMT2A_ENST00000534358.1_Silent_p.I3429I|KMT2A_ENST00000354520.4_Silent_p.I3388I			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	3426					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										CATCTAGCATCTGTGTGCTCC	0.542																																						ENST00000534358.1																			0											c.(10285-10287)atC>atT		lysine (K)-specific methyltransferase 2A							93.0	88.0	90.0					11																	118376894		2200	4295	6495	SO:0001819	synonymous_variant	4297							g.chr11:118376894C>T	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.10278C>T	11.37:g.118376894C>T						KMT2A_ENST00000354520.4_Silent_p.I3388I|KMT2A_ENST00000389506.5_Silent_p.I3426I	p.I3429I	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2					27	10310	+								E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Silent	SNP	ENST00000389506.5	37	c.10287C>T	CCDS31686.1																																																																																				0.542	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		7	95	0	0	0	1	0	7	95				
MCOLN2	255231	broad.mit.edu	37	1	85422147	85422147	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr1:85422147C>T	ENST00000370608.3	-	4	599	c.532G>A	c.(532-534)Gag>Aag	p.E178K	MCOLN2_ENST00000531325.1_5'UTR|MCOLN2_ENST00000284027.5_Missense_Mutation_p.E150K	NM_153259.2	NP_694991.2	Q8IZK6	MCLN2_HUMAN	mucolipin 2	178					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		TTCAGTGTCTCATTAGAAGGA	0.408																																						ENST00000370608.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18						c.(532-534)Gag>Aag		mucolipin 2							234.0	216.0	222.0					1																	85422147		2203	4300	6503	SO:0001583	missense	255231					integral to membrane	ion channel activity	g.chr1:85422147C>T	AK094010	CCDS30762.1	1p22	2011-12-16			ENSG00000153898	ENSG00000153898		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13357	protein-coding gene	gene with protein product		607399				16382100	Standard	XM_005270719		Approved	TRPML2, FLJ36691, TRP-ML2	uc001dkm.3	Q8IZK6	OTTHUMG00000009954	ENST00000370608.3:c.532G>A	1.37:g.85422147C>T	ENSP00000359640:p.Glu178Lys					MCOLN2_ENST00000531325.1_5'UTR|MCOLN2_ENST00000284027.5_Missense_Mutation_p.E150K	p.E178K	NM_153259.2	NP_694991.2	Q8IZK6	MCLN2_HUMAN		all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)	4	599	-			178					A6NI99|Q2M3I6|Q5TAG5|Q8N9R3	Missense_Mutation	SNP	ENST00000370608.3	37	c.532G>A	CCDS30762.1	.	.	.	.	.	.	.	.	.	.	C	11.61	1.689256	0.29962	.	.	ENSG00000153898	ENST00000370608;ENST00000284027	T;T	0.59772	0.24;0.24	5.06	3.03	0.35002	.	0.384088	0.27836	N	0.017651	T	0.33962	0.0881	L	0.48642	1.525	0.41681	D	0.989296	B	0.24823	0.112	B	0.19148	0.024	T	0.31998	-0.9923	10	0.39692	T	0.17	-28.904	14.0691	0.64849	0.2716:0.7284:0.0:0.0	.	178	Q8IZK6	MCLN2_HUMAN	K	178;150	ENSP00000359640:E178K;ENSP00000284027:E150K	ENSP00000284027:E150K	E	-	1	0	MCOLN2	85194735	1.000000	0.71417	0.429000	0.26710	0.096000	0.18686	5.340000	0.65958	1.236000	0.43740	-0.188000	0.12872	GAG		0.408	MCOLN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027567.2	NM_153259		19	112	0	0	0	1	0	19	112				
SETD1A	9739	broad.mit.edu	37	16	30975976	30975976	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr16:30975976T>A	ENST00000262519.8	+	7	1599	c.913T>A	c.(913-915)Tac>Aac	p.Y305N		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	305	Ser-rich. {ECO:0000255}.				histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						AGAGAACAGCTACCAAGATGC	0.597																																						ENST00000262519.8																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						c.(913-915)Tac>Aac		SET domain containing 1A							95.0	91.0	92.0					16																	30975976		2197	4300	6497	SO:0001583	missense	9739				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding	g.chr16:30975976T>A	AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.913T>A	16.37:g.30975976T>A	ENSP00000262519:p.Tyr305Asn						p.Y305N	NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN			7	1599	+			305			Ser-rich.		A6NP62|Q6PIF3|Q8TAJ6	Missense_Mutation	SNP	ENST00000262519.8	37	c.913T>A	CCDS32435.1	.	.	.	.	.	.	.	.	.	.	T	13.84	2.357738	0.41801	.	.	ENSG00000099381	ENST00000262519	D	0.94046	-3.34	5.63	5.63	0.86233	.	0.401005	0.25925	N	0.027401	D	0.89928	0.6857	L	0.36672	1.1	0.28679	N	0.905209	P	0.50528	0.936	P	0.45232	0.474	D	0.86867	0.2033	10	0.87932	D	0	.	9.3648	0.38217	0.0:0.0809:0.0:0.9191	.	305	O15047	SET1A_HUMAN	N	305	ENSP00000262519:Y305N	ENSP00000262519:Y305N	Y	+	1	0	SETD1A	30883477	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.334000	0.52097	2.136000	0.66102	0.454000	0.30748	TAC		0.597	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		13	77	0	0	0	1	0	13	77				
WNT2	7472	broad.mit.edu	37	7	116963002	116963002	+	Silent	SNP	C	C	A			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr7:116963002C>A	ENST00000265441.3	-	1	341	c.42G>T	c.(40-42)ctG>ctT	p.L14L	AC002465.2_ENST00000436097.1_RNA	NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	14					atrial cardiac muscle tissue morphogenesis (GO:0055009)|canonical Wnt signaling pathway (GO:0060070)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|iris morphogenesis (GO:0061072)|labyrinthine layer blood vessel development (GO:0060716)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|lung induction (GO:0060492)|mammary gland epithelium development (GO:0061180)|neuron differentiation (GO:0030182)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		AGGTCAAGAGCAGAGGGAGCC	0.622																																						ENST00000265441.3																			0				breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31						c.(40-42)ctG>ctT		wingless-type MMTV integration site family member 2							90.0	88.0	88.0					7																	116963002		2203	4300	6503	SO:0001819	synonymous_variant	7472				atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity	g.chr7:116963002C>A	X07876	CCDS5771.1	7q31	2013-02-28			ENSG00000105989	ENSG00000105989		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12780	protein-coding gene	gene with protein product	"""secreted growth factor"""	147870		INT1L1		2971536	Standard	NM_003391		Approved	IRP	uc003viz.3	P09544	OTTHUMG00000023428	ENST00000265441.3:c.42G>T	7.37:g.116963002C>A							p.L14L	NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)	1	341	-	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		14					A4D0V1|Q75N05|Q9UDP9	Silent	SNP	ENST00000265441.3	37	c.42G>T	CCDS5771.1																																																																																				0.622	WNT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059749.3	NM_003391		8	44	1	0	1.76689e-08	1	1.91292e-08	8	44				
TRAPPC13	80006	broad.mit.edu	37	5	64956687	64956687	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr5:64956687delA	ENST00000399438.3	+	10	1205	c.860delA	c.(859-861)gaafs	p.E287fs	TRAPPC13_ENST00000231526.4_Frame_Shift_Del_p.E281fs|TRAPPC13_ENST00000505553.1_Frame_Shift_Del_p.E281fs|TRAPPC13_ENST00000438419.2_Frame_Shift_Del_p.E287fs|TRAPPC13_ENST00000545191.1_Frame_Shift_Del_p.E288fs	NM_001093755.1|NM_024941.3	NP_001087224.1|NP_079217.2	A5PLN9	TPC13_HUMAN	trafficking protein particle complex 13	287																	AATCTAGGTGAAAGGGGAAGG	0.393																																						ENST00000399438.3																			0											c.(859-861)gafs		trafficking protein particle complex 13							71.0	66.0	67.0					5																	64956687		1840	4089	5929	SO:0001589	frameshift_variant	80006							g.chr5:64956687delA		CCDS47221.1, CCDS47222.1, CCDS47223.1, CCDS58950.1	5q12.3	2013-01-31	2013-01-24	2013-01-24	ENSG00000113597	ENSG00000113597			25828	protein-coding gene	gene with protein product	"""Trs65-related"""		"""chromosome 5 open reading frame 44"""	C5orf44		12477932	Standard	NM_024941		Approved	FLJ13611, FLJ26957, MGC48585	uc010iwu.1	A5PLN9	OTTHUMG00000163649	ENST00000399438.3:c.860delA	5.37:g.64956687delA	ENSP00000382367:p.Glu287fs					TRAPPC13_ENST00000505553.1_Frame_Shift_Del_p.E281fs|TRAPPC13_ENST00000438419.2_Frame_Shift_Del_p.E287fs|TRAPPC13_ENST00000545191.1_Frame_Shift_Del_p.E288fs|TRAPPC13_ENST00000231526.4_Frame_Shift_Del_p.E281fs	p.E287fs	NM_001093755.1|NM_024941.3	NP_001087224.1|NP_079217.2					10	1205	+								Q17RZ9|Q49A23|Q4JHG0|Q6MZG4|Q8TCM2|Q9H8I3	Frame_Shift_Del	DEL	ENST00000399438.3	37	c.860delA	CCDS47222.1																																																																																				0.393	TRAPPC13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370113.1	NM_024941		16	18						16	18	---	---	---	---
CNBD1	168975	broad.mit.edu	37	8	88365940	88365940	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr8:88365940delA	ENST00000518476.1	+	10	1280	c.1229delA	c.(1228-1230)caafs	p.Q410fs		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	410										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						GTCCTTCTTCAAGTTCCTTTC	0.323																																						ENST00000518476.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						c.(1228-1230)cafs		cyclic nucleotide binding domain containing 1							95.0	93.0	94.0					8																	88365940		1842	4083	5925	SO:0001589	frameshift_variant	168975							g.chr8:88365940delA	AK093121	CCDS55259.1	8q21.3	2005-08-09				ENSG00000176571			26663	protein-coding gene	gene with protein product							Standard	NM_173538		Approved	FLJ35802	uc003ydy.2	Q8NA66		ENST00000518476.1:c.1229delA	8.37:g.88365940delA	ENSP00000430073:p.Gln410fs						p.Q410fs	NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN			10	1280	+			410						Frame_Shift_Del	DEL	ENST00000518476.1	37	c.1229delA	CCDS55259.1																																																																																				0.323	CNBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375113.2	NM_173538		8	46						8	46	---	---	---	---
GPR132	29933	broad.mit.edu	37	14	105518104	105518106	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr14:105518104_105518106delAGA	ENST00000329797.3	-	4	1279_1281	c.368_370delTCT	c.(367-372)ttctgc>tgc	p.F123del	GPR132_ENST00000392585.2_In_Frame_Del_p.F114del|GPR132_ENST00000546679.1_5'UTR|GPR132_ENST00000539291.2_In_Frame_Del_p.F123del	NM_001278694.1|NM_001278696.1|NM_013345.2	NP_001265623.1|NP_001265625.1|NP_037477.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	123					G1/S transition of mitotic cell cycle (GO:0000082)|response to stress (GO:0006950)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		TAGATGTTGCAGAAGAAGATGTA	0.631																																						ENST00000329797.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18						c.(367-372)tgc>t		G protein-coupled receptor 132																																				SO:0001651	inframe_deletion	29933				response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr14:105518104_105518106delAGA	AF083955	CCDS9997.1, CCDS61567.1	14q32.3	2012-08-21			ENSG00000183484	ENSG00000183484		"""GPCR / Class A : Orphans"""	17482	protein-coding gene	gene with protein product	"""G2 accumulation"""	606167				12086852	Standard	NM_013345		Approved	G2A	uc001yqd.3	Q9UNW8	OTTHUMG00000140173	ENST00000329797.3:c.368_370delTCT	14.37:g.105518110_105518112delAGA	ENSP00000328818:p.Phe123del					GPR132_ENST00000539291.2_In_Frame_Del_p.FC123del|GPR132_ENST00000392585.2_In_Frame_Del_p.FC114del|GPR132_ENST00000546679.1_5'UTR	p.FC123del	NM_013345.2	NP_037477.1	Q9UNW8	GP132_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)	4	1279_1281	-		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	123					A8K7X7|B4E144|Q9BSU2	In_Frame_Del	DEL	ENST00000329797.3	37	c.368_370delTCT	CCDS9997.1																																																																																				0.631	GPR132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409278.1	NM_013345		9	159						9	159	---	---	---	---
