#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
NR2C1	7181	broad.mit.edu	37	12	95452139	95452139	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9LY-01A-11D-A41K-08	TCGA-ZG-A9LY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1f1c7e-8d3b-4323-a37d-767b65089dbf	5c2da700-8b1e-4ca3-8960-f8f0028ca0d8	g.chr12:95452139C>T	ENST00000333003.5	-	5	821	c.491G>A	c.(490-492)cGc>cAc	p.R164H	NR2C1_ENST00000545833.1_5'UTR|NR2C1_ENST00000393101.3_Missense_Mutation_p.R164H|NR2C1_ENST00000330677.7_Missense_Mutation_p.R164H	NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1	164	Required for interaction with KAT2B. {ECO:0000250}.				gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	DNA binding (GO:0003677)|receptor activity (GO:0004872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						GTATTGACAGCGGTTTCGGTG	0.348																																						ENST00000333003.5																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						c.(490-492)cGc>cAc		nuclear receptor subfamily 2, group C, member 1							92.0	91.0	91.0					12																	95452139		2203	4300	6503	SO:0001583	missense	7181				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr12:95452139C>T	M29960	CCDS9051.1, CCDS41821.1, CCDS44953.1	12q22	2013-01-16				ENSG00000120798		"""Nuclear hormone receptors"""	7971	protein-coding gene	gene with protein product		601529		TR2		2597158	Standard	NM_001032287		Approved	TR2-11	uc001tdm.5	P13056	OTTHUMG00000170131	ENST00000333003.5:c.491G>A	12.37:g.95452139C>T	ENSP00000333275:p.Arg164His					NR2C1_ENST00000545833.1_5'UTR|NR2C1_ENST00000393101.3_Missense_Mutation_p.R164H|NR2C1_ENST00000330677.7_Missense_Mutation_p.R164H	p.R164H	NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN			5	821	-			164			Required for interaction with KAT2B (By similarity).		A8K5K4|Q15625|Q15626	Missense_Mutation	SNP	ENST00000333003.5	37	c.491G>A	CCDS9051.1	.	.	.	.	.	.	.	.	.	.	C	32	5.188898	0.94923	.	.	ENSG00000120798	ENST00000333003;ENST00000393101;ENST00000330677	D;D;D	0.97505	-4.41;-4.41;-4.41	5.57	5.57	0.84162	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (4);	0.089102	0.85682	D	0.000000	D	0.98563	0.9520	M	0.83603	2.65	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;0.999	D;D;D;D	0.91635	0.994;0.985;0.999;0.991	D	0.99517	1.0957	10	0.87932	D	0	.	19.5383	0.95264	0.0:1.0:0.0:0.0	.	164;164;164;164	B6ZGT7;P13056-3;P13056-2;P13056	.;.;.;NR2C1_HUMAN	H	164	ENSP00000333275:R164H;ENSP00000376813:R164H;ENSP00000328843:R164H	ENSP00000328843:R164H	R	-	2	0	NR2C1	93976270	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.818000	0.86416	2.632000	0.89209	0.561000	0.74099	CGC		0.348	NR2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407565.2	NM_003297		5	61	0	0	0	1	0	5	61				
DENND2C	163259	broad.mit.edu	37	1	115142031	115142031	+	Missense_Mutation	SNP	T	T	C			TCGA-ZG-A9LY-01A-11D-A41K-08	TCGA-ZG-A9LY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1f1c7e-8d3b-4323-a37d-767b65089dbf	5c2da700-8b1e-4ca3-8960-f8f0028ca0d8	g.chr1:115142031T>C	ENST00000393274.1	-	16	2772	c.2147A>G	c.(2146-2148)tAt>tGt	p.Y716C	DENND2C_ENST00000393276.3_Missense_Mutation_p.Y659C|DENND2C_ENST00000393277.1_Intron|DENND2C_ENST00000481894.1_5'UTR	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	716	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGTGAACGGATACAGTGTAGC	0.458																																						ENST00000393274.1																			0				NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37						c.(2146-2148)tAt>tGt		DENN/MADD domain containing 2C							154.0	125.0	135.0					1																	115142031		2203	4300	6503	SO:0001583	missense	163259							g.chr1:115142031T>C		CCDS875.1, CCDS58018.1	1p13.2-p13.1	2012-10-03			ENSG00000175984	ENSG00000175984		"""DENN/MADD domain containing"""	24748	protein-coding gene	gene with protein product							Standard	NM_198459		Approved	FLJ37099, DKFZp686G0351, DKFZp779P1149, dJ1156J9.1, RP5-1156J9.1	uc001efd.1	Q68D51	OTTHUMG00000011893	ENST00000393274.1:c.2147A>G	1.37:g.115142031T>C	ENSP00000376955:p.Tyr716Cys					DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393277.1_Intron|DENND2C_ENST00000393276.3_Missense_Mutation_p.Y659C	p.Y716C	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	16	2772	-	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	716			DENN.		B1AL26|Q5TCX6|Q6P3R3	Missense_Mutation	SNP	ENST00000393274.1	37	c.2147A>G	CCDS58018.1	.	.	.	.	.	.	.	.	.	.	T	26.5	4.740661	0.89573	.	.	ENSG00000175984	ENST00000393276;ENST00000393274;ENST00000369540	T;T	0.13307	2.6;2.6	5.81	5.81	0.92471	DENN (3);	0.000000	0.85682	D	0.000000	T	0.40909	0.1136	M	0.92649	3.33	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.55679	-0.8103	10	0.87932	D	0	.	16.2128	0.82178	0.0:0.0:0.0:1.0	.	716;659	Q68D51;Q68D51-3	DEN2C_HUMAN;.	C	659;716;716	ENSP00000376957:Y659C;ENSP00000376955:Y716C	ENSP00000358553:Y716C	Y	-	2	0	DENND2C	114943554	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.589000	0.82641	2.234000	0.73211	0.524000	0.50904	TAT		0.458	DENND2C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000314822.1	NM_198459		8	33	0	0	0	1	0	8	33				
TM9SF4	9777	broad.mit.edu	37	20	30732918	30732918	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9LY-01A-11D-A41K-08	TCGA-ZG-A9LY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1f1c7e-8d3b-4323-a37d-767b65089dbf	5c2da700-8b1e-4ca3-8960-f8f0028ca0d8	g.chr20:30732918C>T	ENST00000398022.2	+	7	912	c.677C>T	c.(676-678)tCg>tTg	p.S226L	TM9SF4_ENST00000217315.5_Missense_Mutation_p.S209L	NM_014742.3	NP_055557.2	Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	226						integral component of membrane (GO:0016021)				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GAGAAGAGTTCGTGCACTCTG	0.562																																						ENST00000217315.5																			0				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(625-627)tCg>tTg		transmembrane 9 superfamily protein member 4							113.0	101.0	105.0					20																	30732918		2203	4300	6503	SO:0001583	missense	9777					integral to membrane		g.chr20:30732918C>T	BC021107	CCDS13196.2	20q11.21	2004-04-19			ENSG00000101337	ENSG00000101337			30797	protein-coding gene	gene with protein product						9039502	Standard	NM_014742		Approved	KIAA0255, dJ836N17.2	uc002wxj.2	Q92544	OTTHUMG00000032206	ENST00000398022.2:c.677C>T	20.37:g.30732918C>T	ENSP00000381104:p.Ser226Leu					TM9SF4_ENST00000398022.2_Missense_Mutation_p.S226L	p.S209L			Q92544	TM9S4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		7	966	+			226					B0QYT7|Q9NUA3	Missense_Mutation	SNP	ENST00000398022.2	37	c.626C>T	CCDS13196.2	.	.	.	.	.	.	.	.	.	.	C	15.85	2.956136	0.53293	.	.	ENSG00000101337	ENST00000398022;ENST00000421148;ENST00000217315	T;T	0.45276	0.9;0.9	5.51	5.51	0.81932	.	0.293148	0.31922	N	0.006841	T	0.31358	0.0794	L	0.33753	1.03	0.41104	D	0.985695	B;B;B	0.15141	0.012;0.001;0.001	B;B;B	0.12837	0.008;0.002;0.005	T	0.06752	-1.0809	10	0.27785	T	0.31	-3.7744	11.3871	0.49791	0.0:0.9119:0.0:0.0881	.	152;133;226	F5H3B5;B4DH88;Q92544	.;.;TM9S4_HUMAN	L	226;152;209	ENSP00000381104:S226L;ENSP00000217315:S209L	ENSP00000217315:S209L	S	+	2	0	TM9SF4	30196579	0.339000	0.24784	0.998000	0.56505	0.869000	0.49853	4.077000	0.57598	2.873000	0.98535	0.561000	0.74099	TCG		0.562	TM9SF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323568.1	NM_014742		8	30	0	0	0	1	0	8	30				
FAT4	79633	broad.mit.edu	37	4	126336650	126336650	+	Missense_Mutation	SNP	G	G	A	rs373678302		TCGA-ZG-A9LY-01A-11D-A41K-08	TCGA-ZG-A9LY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1f1c7e-8d3b-4323-a37d-767b65089dbf	5c2da700-8b1e-4ca3-8960-f8f0028ca0d8	g.chr4:126336650G>A	ENST00000394329.3	+	5	6545	c.6532G>A	c.(6532-6534)Gca>Aca	p.A2178T	FAT4_ENST00000335110.5_Missense_Mutation_p.A476T	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2178	Cadherin 21. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A2178S(2)|p.A2178P(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACAAGTGTTCGCAGCAGATGG	0.398																																						ENST00000394329.3																			4	Substitution - Missense(4)	p.A2178S(2)|p.A2178P(2)	lung(4)	NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(6532-6534)Gca>Aca		FAT atypical cadherin 4		G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	155.0	141.0	146.0		6532	5.6	0.6	4		146	0,8600		0,0,4300	no	missense	FAT4	NM_024582.4	58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	2178/4982	126336650	1,13005	2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126336650G>A	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.6532G>A	4.37:g.126336650G>A	ENSP00000377862:p.Ala2178Thr					FAT4_ENST00000335110.5_Missense_Mutation_p.A476T	p.A2178T	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			5	6545	+			2178			Cadherin 21.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.6532G>A	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	15.82	2.946388	0.53079	2.27E-4	0.0	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.61392	0.11;0.11	5.6	5.6	0.85130	Cadherin (4);Cadherin-like (1);	0.000000	0.34110	U	0.004257	T	0.79353	0.4431	M	0.93898	3.47	0.80722	D	1	D;D	0.63880	0.993;0.99	P;P	0.58577	0.802;0.841	D	0.84804	0.0786	10	0.87932	D	0	.	15.259	0.73606	0.0:0.0:0.8591:0.1409	.	476;2178	Q6V0I7-2;Q6V0I7	.;FAT4_HUMAN	T	2178;476	ENSP00000377862:A2178T;ENSP00000335169:A476T	ENSP00000335169:A476T	A	+	1	0	FAT4	126556100	1.000000	0.71417	0.566000	0.28421	0.058000	0.15608	7.722000	0.84778	2.642000	0.89623	0.557000	0.71058	GCA		0.398	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		13	81	0	0	0	1	0	13	81				
NGEF	25791	broad.mit.edu	37	2	233759485	233759485	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9LY-01A-11D-A41K-08	TCGA-ZG-A9LY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1f1c7e-8d3b-4323-a37d-767b65089dbf	5c2da700-8b1e-4ca3-8960-f8f0028ca0d8	g.chr2:233759485C>T	ENST00000264051.3	-	6	1248	c.970G>A	c.(970-972)Gtg>Atg	p.V324M	NGEF_ENST00000409079.1_Missense_Mutation_p.V232M|NGEF_ENST00000539537.1_Missense_Mutation_p.V47M|NGEF_ENST00000373552.4_Missense_Mutation_p.V232M	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	324	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|ephrin receptor signaling pathway (GO:0048013)|negative regulation of dendritic spine morphogenesis (GO:0061002)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		ACAGCCAGCACGTCCAGGACG	0.602																																						ENST00000264051.3																			0				central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35						c.(970-972)Gtg>Atg		neuronal guanine nucleotide exchange factor							80.0	72.0	75.0					2																	233759485		2203	4300	6503	SO:0001583	missense	25791				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr2:233759485C>T	AJ238899	CCDS2500.1, CCDS46544.1	2q37	2012-07-24			ENSG00000066248	ENSG00000066248		"""Rho guanine nucleotide exchange factors"""	7807	protein-coding gene	gene with protein product	"""ephexin"""	605991				10777665	Standard	NM_019850		Approved	ARHGEF27	uc002vts.2	Q8N5V2	OTTHUMG00000133272	ENST00000264051.3:c.970G>A	2.37:g.233759485C>T	ENSP00000264051:p.Val324Met					NGEF_ENST00000539537.1_Missense_Mutation_p.V47M|NGEF_ENST00000373552.4_Missense_Mutation_p.V232M|NGEF_ENST00000409079.1_Missense_Mutation_p.V232M	p.V324M	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)	6	1248	-		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	324			DH.		B4DMB8|B9A045|E9PC42|Q53QQ4|Q53ST7|Q6GMQ5|Q9NQD6	Missense_Mutation	SNP	ENST00000264051.3	37	c.970G>A	CCDS2500.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.3|22.3	4.265633|4.265633	0.80358|0.80358	.|.	.|.	ENSG00000066248|ENSG00000066248	ENST00000420650|ENST00000264051;ENST00000373552;ENST00000541023;ENST00000539537;ENST00000416114;ENST00000458735;ENST00000409079	.|T;T;T;T;T;T	.|0.32988	.|1.43;1.43;1.43;1.43;1.43;1.43	5.22|5.22	5.22|5.22	0.72569|0.72569	.|Dbl homology (DH) domain (5);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.63988|0.63988	0.2558|0.2558	M|M	0.89095|0.89095	3.005|3.005	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|0.998;1.0;1.0	.|D;D;D	.|0.81914	.|0.971;0.991;0.995	T|T	0.72060|0.72060	-0.4404|-0.4404	5|10	.|0.87932	.|D	.|0	-46.3681|-46.3681	18.7943|18.7943	0.91988|0.91988	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|232;232;324	.|E9PC42;B4DMB8;Q8N5V2	.|.;.;NGEF_HUMAN	H|M	116|324;232;214;47;47;47;232	.|ENSP00000264051:V324M;ENSP00000362653:V232M;ENSP00000439035:V47M;ENSP00000401063:V47M;ENSP00000412614:V47M;ENSP00000387033:V232M	.|ENSP00000264051:V324M	R|V	-|-	2|1	0|0	NGEF|NGEF	233467729|233467729	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.898000|0.898000	0.52572|0.52572	4.619000|4.619000	0.61218|0.61218	2.440000|2.440000	0.82611|0.82611	0.655000|0.655000	0.94253|0.94253	CGT|GTG		0.602	NGEF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257051.2	XM_044799		7	37	0	0	0	1	0	7	37				
SLC6A14	11254	broad.mit.edu	37	X	115576109	115576109	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9LY-01A-11D-A41K-08	TCGA-ZG-A9LY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1f1c7e-8d3b-4323-a37d-767b65089dbf	5c2da700-8b1e-4ca3-8960-f8f0028ca0d8	g.chrX:115576109G>A	ENST00000371900.4	+	6	768	c.680G>A	c.(679-681)aGt>aAt	p.S227N		NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	227					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	CAACGGTCAAGTGGAATGAAT	0.368																																						ENST00000371900.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23						c.(679-681)aGt>aAt		solute carrier family 6 (amino acid transporter), member 14	L-Proline(DB00172)						255.0	206.0	222.0					X																	115576109		2203	4300	6503	SO:0001583	missense	11254				cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chrX:115576109G>A	AF151978	CCDS14570.1	Xq23	2013-05-22			ENSG00000087916	ENSG00000268104		"""Solute carriers"""	11047	protein-coding gene	gene with protein product		300444	"""solute carrier family 6 (neurotransmitter transporter), member 14"""			10446133	Standard	NM_007231		Approved		uc004eqi.3	Q9UN76	OTTHUMG00000022245	ENST00000371900.4:c.680G>A	X.37:g.115576109G>A	ENSP00000360967:p.Ser227Asn						p.S227N	NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN			6	768	+			227					Q5H942	Missense_Mutation	SNP	ENST00000371900.4	37	c.680G>A	CCDS14570.1	.	.	.	.	.	.	.	.	.	.	g	13.53	2.263827	0.39995	.	.	ENSG00000087916	ENST00000371900	T	0.74632	-0.86	5.69	3.93	0.45458	.	0.081846	0.85682	N	0.000000	T	0.63367	0.2505	L	0.35723	1.085	0.25157	N	0.990383	B	0.17852	0.024	B	0.16722	0.016	T	0.54899	-0.8224	10	0.48119	T	0.1	.	9.5536	0.39326	0.1748:0.0:0.8252:0.0	.	227	Q9UN76	S6A14_HUMAN	N	227	ENSP00000360967:S227N	ENSP00000360967:S227N	S	+	2	0	SLC6A14	115490137	0.999000	0.42202	0.997000	0.53966	0.839000	0.47603	1.517000	0.35867	0.577000	0.29470	0.540000	0.68198	AGT		0.368	SLC6A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057986.1			10	19	0	0	0	1	0	10	19				
DLGAP3	58512	broad.mit.edu	37	1	35370518	35370518	+	Missense_Mutation	SNP	G	G	A	rs144823481		TCGA-ZG-A9LY-01A-11D-A41K-08	TCGA-ZG-A9LY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1f1c7e-8d3b-4323-a37d-767b65089dbf	5c2da700-8b1e-4ca3-8960-f8f0028ca0d8	g.chr1:35370518G>A	ENST00000373347.1	-	3	735	c.467C>T	c.(466-468)aCg>aTg	p.T156M	DLGAP3_ENST00000235180.4_Missense_Mutation_p.T156M|DLGAP3_ENST00000495979.1_5'Flank			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	156					cell-cell signaling (GO:0007267)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				GGCAGTGCCCGTCCCTGGCGC	0.622																																						ENST00000373347.1																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46						c.(466-468)aCg>aTg		discs, large (Drosophila) homolog-associated protein 3			MET/THR	0,4396		0,0,2198	17.0	19.0	18.0		467	4.6	1.0	1	dbSNP_134	18	1,8561		0,1,4280	no	missense	DLGAP3	NM_001080418.1	81	0,1,6478	AA,AG,GG		0.0117,0.0,0.0077	benign	156/980	35370518	1,12957	2198	4281	6479	SO:0001583	missense	58512				cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane		g.chr1:35370518G>A	AF131778	CCDS30670.1	1p35.3-p34.1	2008-02-05			ENSG00000116544	ENSG00000116544			30368	protein-coding gene	gene with protein product		611413				8619474, 9110174	Standard	NM_001080418		Approved	SAPAP3, DAP3	uc001byc.3	O95886	OTTHUMG00000004049	ENST00000373347.1:c.467C>T	1.37:g.35370518G>A	ENSP00000362444:p.Thr156Met					DLGAP3_ENST00000235180.4_Missense_Mutation_p.T156M	p.T156M			O95886	DLGP3_HUMAN			3	735	-		Myeloproliferative disorder(586;0.0393)	156					Q5TDD5|Q9H3X7	Missense_Mutation	SNP	ENST00000373347.1	37	c.467C>T	CCDS30670.1	.	.	.	.	.	.	.	.	.	.	G	13.07	2.127757	0.37533	0.0	1.17E-4	ENSG00000116544	ENST00000373347;ENST00000235180	T;T	0.27256	1.68;1.68	4.57	4.57	0.56435	.	0.301596	0.27185	N	0.020531	T	0.15955	0.0384	N	0.14661	0.345	0.35159	D	0.770452	D	0.56287	0.975	B	0.40565	0.333	T	0.24190	-1.0167	10	0.72032	D	0.01	-3.6617	13.1999	0.59761	0.0:0.0:1.0:0.0	.	156	O95886	DLGP3_HUMAN	M	156	ENSP00000362444:T156M;ENSP00000235180:T156M	ENSP00000235180:T156M	T	-	2	0	DLGAP3	35143105	.	.	0.954000	0.39281	0.522000	0.34438	.	.	2.260000	0.74910	0.448000	0.29417	ACG		0.622	DLGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011554.1	NM_021234		4	20	0	0	0	1	0	4	20				
FN1	2335	broad.mit.edu	37	2	216243939	216243939	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9LY-01A-11D-A41K-08	TCGA-ZG-A9LY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1f1c7e-8d3b-4323-a37d-767b65089dbf	5c2da700-8b1e-4ca3-8960-f8f0028ca0d8	g.chr2:216243939G>A	ENST00000359671.1	-	33	5528	c.5263C>T	c.(5263-5265)Cgg>Tgg	p.R1755W	FN1_ENST00000490833.1_5'UTR|FN1_ENST00000346544.3_Missense_Mutation_p.R1755W|FN1_ENST00000443816.1_Missense_Mutation_p.R1665W|FN1_ENST00000336916.4_Missense_Mutation_p.R1755W|FN1_ENST00000357009.2_Missense_Mutation_p.R1755W|FN1_ENST00000421182.1_Missense_Mutation_p.R1665W|FN1_ENST00000345488.5_Missense_Mutation_p.R1755W|FN1_ENST00000357867.4_Missense_Mutation_p.R1665W|FN1_ENST00000446046.1_Missense_Mutation_p.R1755W|FN1_ENST00000356005.4_Missense_Mutation_p.R1665W|FN1_ENST00000354785.4_Missense_Mutation_p.R1846W|FN1_ENST00000323926.6_Missense_Mutation_p.R1846W|FN1_ENST00000432072.2_Missense_Mutation_p.R1756W			P02751	FINC_HUMAN	fibronectin 1	1755	Fibronectin type-III 13. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Heparin-binding 2.			R -> W (in Ref. 5; CAH18136). {ECO:0000305}.	acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	GGGGTCACCCGCACTCGATAT	0.527																																						ENST00000354785.4																		FN1/ALK(2)	0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109						c.(5536-5538)Cgg>Tgg		fibronectin 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						133.0	124.0	127.0					2																	216243939		2203	4300	6503	SO:0001583	missense	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216243939G>A		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.5263C>T	2.37:g.216243939G>A	ENSP00000352696:p.Arg1755Trp					FN1_ENST00000359671.1_Missense_Mutation_p.R1755W|FN1_ENST00000357867.4_Missense_Mutation_p.R1665W|FN1_ENST00000490833.1_5'UTR|FN1_ENST00000336916.4_Missense_Mutation_p.R1755W|FN1_ENST00000356005.4_Missense_Mutation_p.R1665W|FN1_ENST00000323926.6_Missense_Mutation_p.R1846W|FN1_ENST00000357009.2_Missense_Mutation_p.R1755W|FN1_ENST00000346544.3_Missense_Mutation_p.R1755W|FN1_ENST00000345488.5_Missense_Mutation_p.R1755W|FN1_ENST00000421182.1_Missense_Mutation_p.R1665W|FN1_ENST00000443816.1_Missense_Mutation_p.R1665W|FN1_ENST00000446046.1_Missense_Mutation_p.R1755W|FN1_ENST00000432072.2_Missense_Mutation_p.R1756W	p.R1846W			P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	34	5905	-		Renal(323;0.127)	1847			Binds to FBLN1.|Fibronectin type-III 14.|Heparin-binding 2.		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37	c.5536C>T		.	.	.	.	.	.	.	.	.	.	G	20.2	3.948501	0.73787	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000456923	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.58797	0.31;0.31;0.31;0.31;0.31;0.31;0.31;0.31;0.31;0.31;0.31;0.31;0.31;0.31	6.17	2.21	0.28008	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.189399	0.35677	N	0.003051	T	0.77294	0.4109	M	0.84326	2.69	0.20821	N	0.999841	D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.998;0.999;0.992;0.994;0.999;1.0;0.987;1.0;0.999;0.999;0.999;0.999	T	0.73949	-0.3821	10	0.66056	D	0.02	.	16.8756	0.86051	0.0:0.0:0.3776:0.6224	.	1755;1756;1846;1665;1665;1755;1755;1756;1665;1665;1846;1755	F8W7G7;P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15;P02751	.;.;.;.;.;.;.;.;.;.;.;FINC_HUMAN	W	1665;1846;1755;1665;1846;1756;1755;1755;1755;1755;1755;1665;1756;1665;472	ENSP00000394423:R1665W;ENSP00000323534:R1846W;ENSP00000338200:R1755W;ENSP00000350534:R1665W;ENSP00000346839:R1846W;ENSP00000352696:R1755W;ENSP00000265312:R1755W;ENSP00000273049:R1755W;ENSP00000349509:R1755W;ENSP00000410422:R1755W;ENSP00000415018:R1665W;ENSP00000399538:R1756W;ENSP00000348285:R1665W;ENSP00000416139:R472W	ENSP00000265313:R1756W	R	-	1	2	FN1	215952184	1.000000	0.71417	0.884000	0.34674	0.938000	0.57974	2.496000	0.45346	0.128000	0.18479	-0.181000	0.13052	CGG		0.527	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		7	47	0	0	0	1	0	7	47				
MFN2	9927	broad.mit.edu	37	1	12058885	12058885	+	Missense_Mutation	SNP	G	G	T			TCGA-ZG-A9LY-01A-11D-A41K-08	TCGA-ZG-A9LY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1f1c7e-8d3b-4323-a37d-767b65089dbf	5c2da700-8b1e-4ca3-8960-f8f0028ca0d8	g.chr1:12058885G>T	ENST00000235329.5	+	7	980	c.658G>T	c.(658-660)Gct>Tct	p.A220S	MFN2_ENST00000444836.1_Missense_Mutation_p.A220S	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	220	Dynamin-type G.				apoptotic process (GO:0006915)|autophagy (GO:0006914)|blastocyst formation (GO:0001825)|blood coagulation (GO:0007596)|camera-type eye morphogenesis (GO:0048593)|mitochondrial fusion (GO:0008053)|mitochondrial membrane organization (GO:0007006)|mitochondrion localization (GO:0051646)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of smooth muscle cell proliferation (GO:0048662)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to mitochondrion (GO:0006626)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intrinsic component of mitochondrial outer membrane (GO:0031306)|microtubule cytoskeleton (GO:0015630)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		TTGTCTGGATGCTGATGTGTT	0.552																																						ENST00000235329.5																			0				endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20						c.(658-660)Gct>Tct		mitofusin 2							305.0	257.0	273.0					1																	12058885		2203	4300	6503	SO:0001583	missense	9927				blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding	g.chr1:12058885G>T	AF036536	CCDS30587.1	1p36.22	2014-09-17			ENSG00000116688	ENSG00000116688			16877	protein-coding gene	gene with protein product		608507				12499352, 11181170	Standard	NM_014874		Approved	CPRP1, KIAA0214, MARF, CMT2A2	uc009vni.3	O95140	OTTHUMG00000002392	ENST00000235329.5:c.658G>T	1.37:g.12058885G>T	ENSP00000235329:p.Ala220Ser					MFN2_ENST00000444836.1_Missense_Mutation_p.A220S	p.A220S	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)	7	980	+	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	220					A8K1B3|O95572|Q5JXC3|Q5JXC4|Q9H131|Q9NSX8	Missense_Mutation	SNP	ENST00000235329.5	37	c.658G>T	CCDS30587.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.722752	0.89298	.	.	ENSG00000116688	ENST00000444836;ENST00000235329	D;D	0.96200	-3.94;-3.94	4.6	4.6	0.57074	Dynamin, GTPase domain (1);	0.057644	0.64402	D	0.000002	D	0.97670	0.9236	M	0.84846	2.72	0.80722	D	1	P	0.52170	0.951	D	0.67900	0.954	D	0.97943	1.0327	10	0.49607	T	0.09	-6.0188	16.798	0.85607	0.0:0.0:1.0:0.0	.	220	O95140	MFN2_HUMAN	S	220	ENSP00000416338:A220S;ENSP00000235329:A220S	ENSP00000235329:A220S	A	+	1	0	MFN2	11981472	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	9.379000	0.97198	2.274000	0.75844	0.655000	0.94253	GCT		0.552	MFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006859.2	NM_014874		23	165	1	0	5.26018e-13	1	5.77588e-13	23	165				
PNLIP	5406	broad.mit.edu	37	10	118306869	118306869	+	Missense_Mutation	SNP	C	C	T	rs140844816		TCGA-ZG-A9LY-01A-11D-A41K-08	TCGA-ZG-A9LY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1f1c7e-8d3b-4323-a37d-767b65089dbf	5c2da700-8b1e-4ca3-8960-f8f0028ca0d8	g.chr10:118306869C>T	ENST00000369221.2	+	3	138	c.110C>T	c.(109-111)aCg>aTg	p.T37M	PNLIP_ENST00000470562.1_3'UTR	NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	37					intestinal cholesterol absorption (GO:0030299)|lipid catabolic process (GO:0016042)|lipid digestion (GO:0044241)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|triglyceride lipase activity (GO:0004806)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Glycerol Phenylbutyrate(DB08909)|Orlistat(DB01083)	TCAGGAATTACGGAAAGACCC	0.428																																						ENST00000369221.2																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43						c.(109-111)aCg>aTg		pancreatic lipase	Bentiromide(DB00522)|Orlistat(DB01083)	C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	93.0	90.0	91.0		110	-5.5	0.0	10	dbSNP_134	91	1,8599	1.2+/-3.3	0,1,4299	no	missense	PNLIP	NM_000936.2	81	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	37/466	118306869	2,13004	2203	4300	6503	SO:0001583	missense	5406				lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity	g.chr10:118306869C>T	BC014309	CCDS7594.1	10q25.3	2012-07-31			ENSG00000175535	ENSG00000175535	3.1.1.3		9155	protein-coding gene	gene with protein product		246600				1783385	Standard	NM_000936		Approved	PL	uc001lcm.3	P16233	OTTHUMG00000019103	ENST00000369221.2:c.110C>T	10.37:g.118306869C>T	ENSP00000358223:p.Thr37Met					PNLIP_ENST00000470562.1_3'UTR	p.T37M	NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN		all cancers(201;0.0131)	3	138	+			37					Q5VSQ2	Missense_Mutation	SNP	ENST00000369221.2	37	c.110C>T	CCDS7594.1	.	.	.	.	.	.	.	.	.	.	C	5.653	0.305033	0.10678	2.27E-4	1.16E-4	ENSG00000175535	ENST00000369221	D	0.90788	-2.73	5.36	-5.49	0.02584	Lipase, N-terminal (1);	3.822420	0.00465	N	0.000109	D	0.85805	0.5782	L	0.51422	1.61	0.09310	N	1	P	0.38922	0.651	B	0.28553	0.091	T	0.76465	-0.2949	10	0.34782	T	0.22	.	14.2528	0.66031	0.0:0.5538:0.0:0.4462	.	37	P16233	LIPP_HUMAN	M	37	ENSP00000358223:T37M	ENSP00000358223:T37M	T	+	2	0	PNLIP	118296859	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.638000	0.05452	-1.294000	0.02360	-0.383000	0.06682	ACG		0.428	PNLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050524.1	NM_000936		14	53	0	0	0	1	0	14	53				
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-ZG-A9LY-01A-11D-A41K-08	TCGA-ZG-A9LY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1f1c7e-8d3b-4323-a37d-767b65089dbf	5c2da700-8b1e-4ca3-8960-f8f0028ca0d8	g.chr22:29091841G>A	ENST00000405598.1	-	12	1307	c.1116C>T	c.(1114-1116)tcC>tcT	p.S372S	CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000544772.1_Silent_p.S151S|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000328354.6_Silent_p.S372S			O96017	CHK2_HUMAN	checkpoint kinase 2	372	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			8	Substitution - coding silent(8)	p.S372S(8)	kidney(4)|prostate(2)|endometrium(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(451-453)tcC>tcT	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2							43.0	44.0	44.0					22																	29091841		2203	4300	6503	SO:0001819	synonymous_variant	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091841G>A	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1116C>T	22.37:g.29091841G>A						CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000403642.1_Silent_p.S281S	p.S151S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1889	-			372			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Silent	SNP	ENST00000405598.1	37	c.453C>T	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	G	5.792	0.330417	0.10956	.	.	ENSG00000183765	ENST00000434810	.	.	.	5.89	-2.11	0.07187	.	.	.	.	.	T	0.42154	0.1190	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33854	-0.9852	4	.	.	.	-7.6356	3.2532	0.06822	0.327:0.1103:0.4613:0.1014	.	.	.	.	L	116	.	.	P	-	2	0	CHEK2	27421841	0.997000	0.39634	0.996000	0.52242	0.470000	0.32858	0.318000	0.19504	-0.075000	0.12798	-0.907000	0.02831	CCA		0.413	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		3	48	0	0	0	1	0	3	48				
JADE3	9767	broad.mit.edu	37	X	46913789	46913789	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9LY-01A-11D-A41K-08	TCGA-ZG-A9LY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1f1c7e-8d3b-4323-a37d-767b65089dbf	5c2da700-8b1e-4ca3-8960-f8f0028ca0d8	g.chrX:46913789G>A	ENST00000218343.4	+	9	1500	c.1202G>A	c.(1201-1203)cGg>cAg	p.R401Q	PHF16_ENST00000397189.1_Missense_Mutation_p.R401Q	NM_014735.3	NP_055550.1														NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						CAGAAGCTTCGGGAGCTGGAG	0.542																																						ENST00000218343.4																			0				NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						c.(1201-1203)cGg>cAg									63.0	60.0	61.0					X																	46913789		2203	4300	6503	SO:0001583	missense	0				histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding	g.chrX:46913789G>A																												ENST00000218343.4:c.1202G>A	X.37:g.46913789G>A	ENSP00000218343:p.Arg401Gln					PHF16_ENST00000397189.1_Missense_Mutation_p.R401Q	p.R401Q	NM_014735.3	NP_055550.1	Q92613	JADE3_HUMAN			9	1500	+			401						Missense_Mutation	SNP	ENST00000218343.4	37	c.1202G>A	CCDS14271.1	.	.	.	.	.	.	.	.	.	.	G	2.449	-0.326853	0.05350	.	.	ENSG00000102221	ENST00000397189;ENST00000218343	T;T	0.46819	0.86;0.86	4.99	2.05	0.26809	.	0.448812	0.25068	N	0.033393	T	0.17916	0.0430	N	0.03948	-0.315	0.23271	N	0.998008	B	0.11235	0.004	B	0.08055	0.003	T	0.31943	-0.9925	10	0.02654	T	1	.	8.078	0.30729	0.3543:0.0:0.6457:0.0	.	401	Q92613	JADE3_HUMAN	Q	401	ENSP00000380373:R401Q;ENSP00000218343:R401Q	ENSP00000218343:R401Q	R	+	2	0	PHF16	46798733	1.000000	0.71417	0.188000	0.23233	0.966000	0.64601	2.465000	0.45075	0.047000	0.15862	-0.208000	0.12717	CGG		0.542	PHF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056376.1			9	17	0	0	0	1	0	9	17				
HIP1R	9026	broad.mit.edu	37	12	123345916	123345916	+	Missense_Mutation	SNP	G	G	A	rs564135107		TCGA-ZG-A9LY-01A-11D-A41K-08	TCGA-ZG-A9LY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1f1c7e-8d3b-4323-a37d-767b65089dbf	5c2da700-8b1e-4ca3-8960-f8f0028ca0d8	g.chr12:123345916G>A	ENST00000253083.4	+	31	3139	c.3014G>A	c.(3013-3015)cGg>cAg	p.R1005Q		NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN	huntingtin interacting protein 1 related	1005	I/LWEQ. {ECO:0000255|PROSITE- ProRule:PRU00292}.				receptor-mediated endocytosis (GO:0006898)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)	phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		GGGGAGTTGCGGAAGCAACAC	0.657													G|||	1	0.000199681	0.0	0.0	5008	,	,		16980	0.0		0.0	False		,,,				2504	0.001					ENST00000253083.4																			0				breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26						c.(3013-3015)cGg>cAg		huntingtin interacting protein 1 related							35.0	46.0	42.0					12																	123345916		2203	4299	6502	SO:0001583	missense	9026				receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding	g.chr12:123345916G>A	AB013384	CCDS31922.1	12q24	2007-12-07			ENSG00000130787	ENSG00000130787			18415	protein-coding gene	gene with protein product		605613				16415883	Standard	NM_003959		Approved	KIAA0655, HIP3, HIP12, FLJ14000, ILWEQ	uc001udj.1	O75146	OTTHUMG00000168765	ENST00000253083.4:c.3014G>A	12.37:g.123345916G>A	ENSP00000253083:p.Arg1005Gln						p.R1005Q	NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)	31	3139	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		1005			I/LWEQ.		A6NHQ6|Q6NXG8|Q9UED9	Missense_Mutation	SNP	ENST00000253083.4	37	c.3014G>A	CCDS31922.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.234915|5.234915	0.95207|0.95207	.|.	.|.	ENSG00000130787|ENSG00000130787	ENST00000535012|ENST00000253083	.|T	.|0.68331	.|-0.32	5.24|5.24	5.24|5.24	0.73138|0.73138	.|I/LWEQ (4);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.87079|0.87079	0.6088|0.6088	H|H	0.94886|0.94886	3.595|3.595	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.90758|0.90758	0.4662|0.4662	5|10	.|0.87932	.|D	.|0	-50.1935|-50.1935	17.5931|17.5931	0.88003|0.88003	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1005	.|O75146	.|HIP1R_HUMAN	R|Q	134|1005	.|ENSP00000253083:R1005Q	.|ENSP00000253083:R1005Q	G|R	+|+	1|2	0|0	HIP1R|HIP1R	121911869|121911869	1.000000|1.000000	0.71417|0.71417	0.974000|0.974000	0.42286|0.42286	0.468000|0.468000	0.32798|0.32798	9.834000|9.834000	0.99428|0.99428	2.444000|2.444000	0.82710|0.82710	0.462000|0.462000	0.41574|0.41574	GGA|CGG		0.657	HIP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400935.1	NM_003959		4	31	0	0	0	1	0	4	31				
PCDHAC1	56135	broad.mit.edu	37	5	140308818	140308818	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ZG-A9LY-01A-11D-A41K-08	TCGA-ZG-A9LY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1f1c7e-8d3b-4323-a37d-767b65089dbf	5c2da700-8b1e-4ca3-8960-f8f0028ca0d8	g.chr5:140308818C>T	ENST00000253807.2	+	1	2341	c.2341C>T	c.(2341-2343)Cga>Tga	p.R781*	PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHAC1_ENST00000409700.3_Nonsense_Mutation_p.R781*|PCDHA5_ENST00000529619.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018898.3	NP_061721.2	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1	781					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCCGACCTGCGAAATCTTGC	0.468																																						ENST00000253807.2																			0				NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65						c.(2341-2343)Cga>Tga									122.0	114.0	117.0					5																	140308818		2203	4300	6503	SO:0001587	stop_gained	0							g.chr5:140308818C>T	AF152473	CCDS4241.1	5q31	2010-11-26			ENSG00000248383	ENSG00000248383		"""Cadherins / Protocadherins : Clustered"""	8676	other	complex locus constituent	"""PCDH-ALPHA-C1"""	606320				10380929	Standard	NM_018898		Approved			Q9H158	OTTHUMG00000129603	ENST00000253807.2:c.2341C>T	5.37:g.140308818C>T	ENSP00000253807:p.Arg781*					PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHAC1_ENST00000409700.3_Nonsense_Mutation_p.R781*|PCDHA13_ENST00000289272.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron	p.R781*	NM_018898.3	NP_061721.2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2341	+								Q9Y5F5|Q9Y5I5	Nonsense_Mutation	SNP	ENST00000253807.2	37	c.2341C>T	CCDS4241.1	.	.	.	.	.	.	.	.	.	.	C	35	5.496907	0.96355	.	.	ENSG00000248383	ENST00000409700;ENST00000253807	.	.	.	5.83	3.34	0.38264	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	.	11.0275	0.47753	0.5321:0.4679:0.0:0.0	.	.	.	.	X	781	.	ENSP00000253807:R781X	R	+	1	2	PCDHAC1	140289002	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	3.014000	0.49590	1.041000	0.40125	-0.457000	0.05445	CGA		0.468	PCDHAC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251798.1	NM_018898		16	60	0	0	0	1	0	16	60				
POM121C	100101267	broad.mit.edu	37	7	75066917	75066917	+	Missense_Mutation	SNP	T	T	C			TCGA-ZG-A9LY-01A-11D-A41K-08	TCGA-ZG-A9LY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1f1c7e-8d3b-4323-a37d-767b65089dbf	5c2da700-8b1e-4ca3-8960-f8f0028ca0d8	g.chr7:75066917T>C	ENST00000257665.5	-	5	1081	c.1082A>G	c.(1081-1083)cAc>cGc	p.H361R	POM121C_ENST00000453279.2_Missense_Mutation_p.H119R|POM121C_ENST00000473168.1_5'Flank			A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C	361	Pore side. {ECO:0000255}.|Required for targeting to the nucleus and nuclear pore complex.|Ser-rich.				mRNA transport (GO:0051028)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|nuclear pore (GO:0005643)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						CTTATTCAAGTGGTCATCTGA	0.473																																						ENST00000453279.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						c.(355-357)cAc>cGc		POM121 transmembrane nucleoporin C							74.0	81.0	79.0					7																	75066917		2203	4297	6500	SO:0001583	missense	100101267				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding	g.chr7:75066917T>C		CCDS47617.1	7q11.23	2012-03-13	2012-03-13		ENSG00000135213	ENSG00000272391			34005	protein-coding gene	gene with protein product		615754	"""POM121 membrane glycoprotein C"""			17900573	Standard	NM_001099415		Approved		uc003udk.4	A8CG34	OTTHUMG00000156238	ENST00000257665.5:c.1082A>G	7.37:g.75066917T>C	ENSP00000257665:p.His361Arg					POM121C_ENST00000257665.5_Missense_Mutation_p.H361R	p.H119R	NM_001099415.1	NP_001092885.1	A8CG34	P121C_HUMAN			7	1220	-			361			Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex.		O75115|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	ENST00000257665.5	37	c.356A>G		.	.	.	.	.	.	.	.	.	.	T	10.67	1.416333	0.25552	.	.	ENSG00000135213	ENST00000257665;ENST00000453279	T;T	0.10860	2.83;2.83	4.17	1.72	0.24424	.	0.339205	0.21394	N	0.075248	T	0.13457	0.0326	L	0.36672	1.1	0.22771	N	0.99875	D	0.63880	0.993	P	0.58660	0.843	T	0.08743	-1.0707	10	0.45353	T	0.12	.	2.9566	0.05878	0.0:0.1935:0.2446:0.5619	.	361	A8CG34	P121C_HUMAN	R	361;119	ENSP00000257665:H361R;ENSP00000414208:H119R	ENSP00000257665:H361R	H	-	2	0	POM121C	74904853	1.000000	0.71417	0.983000	0.44433	0.028000	0.11728	2.566000	0.45948	0.568000	0.29311	-0.626000	0.03995	CAC		0.473	POM121C-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000343919.2	NM_001099415		21	58	0	0	0	1	0	21	58				
CACNA1A	773	broad.mit.edu	37	19	13414687	13414687	+	Silent	SNP	G	G	A	rs373695561		TCGA-ZG-A9LY-01A-11D-A41K-08	TCGA-ZG-A9LY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1f1c7e-8d3b-4323-a37d-767b65089dbf	5c2da700-8b1e-4ca3-8960-f8f0028ca0d8	g.chr19:13414687G>A	ENST00000360228.5	-	16	1997	c.1998C>T	c.(1996-1998)ggC>ggT	p.G666G	CACNA1A_ENST00000573710.2_Silent_p.G667G	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	667			T -> M (in FHM1 and EA2; dbSNP:rs121908212). {ECO:0000269|PubMed:11439943, ECO:0000269|PubMed:14718690, ECO:0000269|PubMed:8898206}.		adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	TCCAGTCTTCGCCCGTCAGGA	0.592																																						ENST00000360228.5																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42						c.(1996-1998)ggC>ggT		calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	G	,,,,	1,4019		0,1,2009	128.0	131.0	130.0		2001,2001,1998,2001,2001	-6.3	0.9	19		130	1,8339		0,1,4169	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CACNA1A	NM_000068.3,NM_001127221.1,NM_001127222.1,NM_001174080.1,NM_023035.2	,,,,	0,2,6178	AA,AG,GG		0.012,0.0249,0.0162	,,,,	667/2267,667/2262,666/2507,667/2264,667/2513	13414687	2,12358	2010	4170	6180	SO:0001819	synonymous_variant	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13414687G>A	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.1998C>T	19.37:g.13414687G>A						CACNA1A_ENST00000573710.2_Silent_p.G667G	p.G666G	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		16	1997	-			667		T -> M (in FHM1 and EA2; dbSNP:rs121908212).			J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Silent	SNP	ENST00000360228.5	37	c.1998C>T	CCDS45998.1																																																																																				0.592	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		20	92	0	0	0	1	0	20	92				
RNF123	63891	broad.mit.edu	37	3	49725284	49725284	+	5'Flank	SNP	C	C	T			TCGA-ZG-A9LY-01A-11D-A41K-08	TCGA-ZG-A9LY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1f1c7e-8d3b-4323-a37d-767b65089dbf	5c2da700-8b1e-4ca3-8960-f8f0028ca0d8	g.chr3:49725284C>T	ENST00000327697.6	+	0	0				RNF123_ENST00000432042.1_5'Flank|MST1_ENST00000383728.3_Intron|MST1_ENST00000449682.2_Silent_p.E47E|MST1_ENST00000494828.2_Intron|MST1_ENST00000545762.1_Silent_p.E33E|AC099668.5_ENST00000563780.1_RNA	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123						protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		GGTGCTGTAGCTCTGTGCCCC	0.597																																						ENST00000449682.2																			0				NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41						c.(139-141)gaG>gaA		macrophage stimulating 1 (hepatocyte growth factor-like)							36.0	33.0	34.0					3																	49725284		2202	4300	6502	SO:0001631	upstream_gene_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49725284C>T	AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"""RING-type (C3HC4) zinc fingers"""	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891		3.37:g.49725284C>T	Exception_encountered					MST1_ENST00000545762.1_Silent_p.E33E|MST1_ENST00000494828.2_Intron|MST1_ENST00000383728.3_Intron	p.E47E	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	2	502	-			33			PAN.		A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Silent	SNP	ENST00000327697.6	37	c.141G>A	CCDS33758.1																																																																																				0.597	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	NM_022064		5	14	0	0	0	1	0	5	14				
GOLGB1	2804	broad.mit.edu	37	3	121383372	121383372	+	Silent	SNP	T	T	C			TCGA-ZG-A9LY-01A-11D-A41K-08	TCGA-ZG-A9LY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1f1c7e-8d3b-4323-a37d-767b65089dbf	5c2da700-8b1e-4ca3-8960-f8f0028ca0d8	g.chr3:121383372T>C	ENST00000340645.5	-	22	9860	c.9735A>G	c.(9733-9735)ctA>ctG	p.L3245L	GOLGB1_ENST00000393667.3_Silent_p.L3255L	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	3245					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		CATGAATCATTAGAAAGTAGA	0.478																																						ENST00000393667.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119						c.(9763-9765)ctA>ctG		golgin B1							106.0	100.0	102.0					3																	121383372		2203	4300	6503	SO:0001819	synonymous_variant	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121383372T>C	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.9735A>G	3.37:g.121383372T>C						GOLGB1_ENST00000340645.5_Silent_p.L3245L	p.L3255L	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	22	9875	-			3245					B2ZZ91|D3DN92|E7EP74|Q14398	Silent	SNP	ENST00000340645.5	37	c.9765A>G	CCDS3004.1																																																																																				0.478	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		11	33	0	0	0	1	0	11	33				
SHROOM2	357	broad.mit.edu	37	X	9900641	9900641	+	Silent	SNP	G	G	T			TCGA-ZG-A9LY-01A-11D-A41K-08	TCGA-ZG-A9LY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1f1c7e-8d3b-4323-a37d-767b65089dbf	5c2da700-8b1e-4ca3-8960-f8f0028ca0d8	g.chrX:9900641G>T	ENST00000380913.3	+	6	3408	c.3318G>T	c.(3316-3318)gtG>gtT	p.V1106V	SHROOM2_ENST00000493668.1_3'UTR|SHROOM2_ENST00000418909.2_5'UTR	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1106					apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				ATGTGTATGTGGCCCGCCTGT	0.672																																						ENST00000380913.3																			0				breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57						c.(3316-3318)gtG>gtT		shroom family member 2							48.0	42.0	44.0					X																	9900641		2203	4300	6503	SO:0001819	synonymous_variant	357				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity	g.chrX:9900641G>T	X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"""apical protein, Xenopus laevis-like"", ""apical protein-like (Xenopus laevis)"""	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.3318G>T	X.37:g.9900641G>T						SHROOM2_ENST00000418909.2_5'UTR|SHROOM2_ENST00000493668.1_3'UTR	p.V1106V	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN			6	3408	+		Hepatocellular(5;0.000888)	1106					B9EIQ7	Silent	SNP	ENST00000380913.3	37	c.3318G>T	CCDS14135.1																																																																																				0.672	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055721.1	NM_001649		7	12	1	0	0.00198382	1	0.00198382	7	12				
KRT4	3851	broad.mit.edu	37	12	53202551	53202551	+	Silent	SNP	G	G	A			TCGA-ZG-A9LY-01A-11D-A41K-08	TCGA-ZG-A9LY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1f1c7e-8d3b-4323-a37d-767b65089dbf	5c2da700-8b1e-4ca3-8960-f8f0028ca0d8	g.chr12:53202551G>A	ENST00000551956.1	-	5	1410	c.918C>T	c.(916-918)agC>agT	p.S306S	KRT4_ENST00000458244.2_Silent_p.S286S|KRT4_ENST00000293774.4_Silent_p.S380S			P19013	K2C4_HUMAN	keratin 4	320	Linker 12.|Rod.				cytoskeleton organization (GO:0007010)|epithelial cell differentiation (GO:0030855)|negative regulation of epithelial cell proliferation (GO:0050680)	cell surface (GO:0009986)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						CGGCAATAATGCTGTCCAGGT	0.577																																					Pancreas(190;284 2995 41444 45903)	ENST00000551956.1																			0				endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						c.(916-918)agC>agT		keratin 4							109.0	99.0	102.0					12																	53202551		2203	4300	6503	SO:0001819	synonymous_variant	3851					keratin filament	structural molecule activity	g.chr12:53202551G>A		CCDS41787.1, CCDS41787.2	12q13.13	2013-01-16			ENSG00000170477	ENSG00000170477		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6441	protein-coding gene	gene with protein product	"""cytokeratin 4"", ""keratin, type II cytoskeletal 4"""	123940		CYK4		16831889	Standard	NM_002272		Approved	CK4, K4	uc031qhk.1	P19013		ENST00000551956.1:c.918C>T	12.37:g.53202551G>A						KRT4_ENST00000458244.2_Silent_p.S286S|KRT4_ENST00000293774.4_Silent_p.S380S	p.S306S			B4DRS2	B4DRS2_HUMAN			5	1410	-			306					F8VS64|Q6GTR8|Q96LA7|Q9BTL1	Silent	SNP	ENST00000551956.1	37	c.918C>T	CCDS41787.2																																																																																				0.577	KRT4-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405931.1	NM_002272		18	50	0	0	0	1	0	18	50				
HIST1H4E	8367	broad.mit.edu	37	6	26205164	26205164	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9LY-01A-11D-A41K-08	TCGA-ZG-A9LY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1f1c7e-8d3b-4323-a37d-767b65089dbf	5c2da700-8b1e-4ca3-8960-f8f0028ca0d8	g.chr6:26205164C>T	ENST00000360441.4	+	1	307	c.292C>T	c.(292-294)Ctt>Ttt	p.L98F		NM_003545.3	NP_003536.1	P62805	H4_HUMAN	histone cluster 1, H4e	98					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	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)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	18		all_hematologic(11;0.196)				GGGACGCACTCTTTACGGCTT	0.532																																						ENST00000360441.4																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	18						c.(292-294)Ctt>Ttt		histone cluster 1, H4e							119.0	102.0	108.0					6																	26205164		2203	4300	6503	SO:0001583	missense	8367				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26205164C>T	Z80787	CCDS4593.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198518	ENSG00000276966		"""Histones / Replication-dependent"""	4790	protein-coding gene	gene with protein product		602830	"""H4 histone family, member J"", ""histone 1, H4e"""	H4FJ		9119399, 12408966	Standard	NM_003545		Approved	H4/j	uc003ngy.3	P62805	OTTHUMG00000014441	ENST00000360441.4:c.292C>T	6.37:g.26205164C>T	ENSP00000353624:p.Leu98Phe						p.L98F	NM_003545.3	NP_003536.1	P62805	H4_HUMAN			1	307	+		all_hematologic(11;0.196)	98					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000360441.4	37	c.292C>T	CCDS4593.1	.	.	.	.	.	.	.	.	.	.	.	12.65	2.001556	0.35320	.	.	ENSG00000198518	ENST00000360441	.	.	.	2.2	2.2	0.27929	.	0.000000	0.64402	U	0.000003	T	0.64091	0.2567	.	.	.	0.58432	D	0.999994	.	.	.	.	.	.	T	0.70835	-0.4764	6	0.87932	D	0	.	12.403	0.55424	0.0:1.0:0.0:0.0	.	.	.	.	F	98	.	ENSP00000353624:L98F	L	+	1	0	HIST1H4E	26313143	1.000000	0.71417	0.120000	0.21714	0.003000	0.03518	5.602000	0.67612	1.521000	0.48983	0.655000	0.94253	CTT		0.532	HIST1H4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040104.1	NM_003545		12	28	0	0	0	1	0	12	28				
MYCT1	80177	broad.mit.edu	37	6	153043116	153043116	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ZG-A9LY-01A-11D-A41K-08	TCGA-ZG-A9LY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1f1c7e-8d3b-4323-a37d-767b65089dbf	5c2da700-8b1e-4ca3-8960-f8f0028ca0d8	g.chr6:153043116C>T	ENST00000367245.5	+	2	444	c.436C>T	c.(436-438)Cga>Tga	p.R146*	MYCT1_ENST00000529453.1_Intron	NM_025107.2	NP_079383.2	Q8N699	MYCT1_HUMAN	myc target 1	146						nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		CACCTTCCAGCGACAAGCTTC	0.498																																						ENST00000367245.5																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20						c.(436-438)Cga>Tga		myc target 1							110.0	110.0	110.0					6																	153043116		2203	4300	6503	SO:0001587	stop_gained	80177					nucleus		g.chr6:153043116C>T	AF527367	CCDS5239.1	6q25.1	2008-02-05			ENSG00000120279	ENSG00000120279			23172	protein-coding gene	gene with protein product						12477932	Standard	NM_025107		Approved	MTLC, FLJ21269	uc003qpc.4	Q8N699	OTTHUMG00000015850	ENST00000367245.5:c.436C>T	6.37:g.153043116C>T	ENSP00000356214:p.Arg146*					MYCT1_ENST00000529453.1_Intron	p.R146*	NM_025107.2	NP_079383.2	Q8N699	MYCT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)	2	444	+		Ovarian(120;0.0654)	146					Q8N396|Q8TBE8|Q9H763	Nonsense_Mutation	SNP	ENST00000367245.5	37	c.436C>T	CCDS5239.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.264082	0.80358	.	.	ENSG00000120279	ENST00000367245	.	.	.	5.78	2.64	0.31445	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.9758	15.7999	0.78447	0.6825:0.3175:0.0:0.0	.	.	.	.	X	146	.	ENSP00000356214:R146X	R	+	1	2	MYCT1	153084809	0.993000	0.37304	1.000000	0.80357	0.985000	0.73830	0.239000	0.18023	0.177000	0.19895	-0.313000	0.08912	CGA		0.498	MYCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042750.2	NM_025107		10	62	0	0	0	1	0	10	62				
LIG4	3981	broad.mit.edu	37	13	108862028	108862028	+	Missense_Mutation	SNP	T	T	C			TCGA-ZG-A9LY-01A-11D-A41K-08	TCGA-ZG-A9LY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1f1c7e-8d3b-4323-a37d-767b65089dbf	5c2da700-8b1e-4ca3-8960-f8f0028ca0d8	g.chr13:108862028T>C	ENST00000356922.4	-	2	1861	c.1589A>G	c.(1588-1590)cAt>cGt	p.H530R	LIG4_ENST00000405925.1_Missense_Mutation_p.H530R|LIG4_ENST00000442234.1_Missense_Mutation_p.H530R	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	530					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|chromosome organization (GO:0051276)|DNA biosynthetic process (GO:0071897)|DNA ligation (GO:0006266)|DNA ligation involved in DNA recombination (GO:0051102)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|lagging strand elongation (GO:0006273)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|single strand break repair (GO:0000012)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|focal adhesion (GO:0005925)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					AGCTTTTCTATGAAAAGGCTT	0.418								Non-homologous end-joining																														ENST00000356922.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1588-1590)cAt>cGt	Non-homologous end-joining	ligase IV, DNA, ATP-dependent							92.0	97.0	96.0					13																	108862028		2203	4300	6503	SO:0001583	missense	3981				cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding	g.chr13:108862028T>C	X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	6.5.1.1		6601	protein-coding gene	gene with protein product	"""polydeoxyribonucleotide synthase [ATP] 4"", ""polynucleotide ligase"", ""sealase"", ""DNA repair enzyme"", ""DNA joinase"""	601837				7760816	Standard	NM_001098268		Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.1589A>G	13.37:g.108862028T>C	ENSP00000349393:p.His530Arg					LIG4_ENST00000405925.1_Missense_Mutation_p.H530R|LIG4_ENST00000442234.1_Missense_Mutation_p.H530R	p.H530R	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN			2	1861	-	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)		530					Q8IY66|Q8TEU5	Missense_Mutation	SNP	ENST00000356922.4	37	c.1589A>G	CCDS9508.1	.	.	.	.	.	.	.	.	.	.	T	0.009	-1.821564	0.00589	.	.	ENSG00000174405	ENST00000405925;ENST00000442234;ENST00000356922	T;T;T	0.61274	0.12;0.12;0.12	5.58	1.79	0.24919	DNA ligase, ATP-dependent, C-terminal (1);Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.397610	0.27749	N	0.018013	T	0.18964	0.0455	N	0.00707	-1.245	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.21690	-1.0238	10	0.17369	T	0.5	.	4.68	0.12731	0.0:0.2304:0.1546:0.6149	.	530	P49917	DNLI4_HUMAN	R	530	ENSP00000385955:H530R;ENSP00000402030:H530R;ENSP00000349393:H530R	ENSP00000349393:H530R	H	-	2	0	LIG4	107660029	0.988000	0.35896	0.011000	0.14972	0.248000	0.25809	1.649000	0.37281	0.373000	0.24621	0.450000	0.29827	CAT		0.418	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045738.4	NM_002312		19	66	0	0	0	1	0	19	66				
KRTAP4-9	100132386	broad.mit.edu	37	17	39261693	39261693	+	Missense_Mutation	SNP	A	A	T	rs113059833		TCGA-ZG-A9LY-01A-11D-A41K-08	TCGA-ZG-A9LY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1f1c7e-8d3b-4323-a37d-767b65089dbf	5c2da700-8b1e-4ca3-8960-f8f0028ca0d8	g.chr17:39261693A>T	ENST00000391415.1	+	1	110	c.53A>T	c.(52-54)gAc>gTc	p.D18V		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	18					aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.D18V(1)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						TGCGGCCAAGACCTCTGTCAG	0.627																																						ENST00000391415.1																			1	Substitution - Missense(1)	p.D18V(1)	endometrium(1)	central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						c.(52-54)gAc>gTc		keratin associated protein 4-9							18.0	22.0	21.0					17																	39261693		692	1590	2282	SO:0001583	missense	100132386					keratin filament		g.chr17:39261693A>T	AJ406941	CCDS54124.1	17q21.2	2013-06-25			ENSG00000212722	ENSG00000212722		"""Keratin associated proteins"""	18910	protein-coding gene	gene with protein product							Standard	NM_001146041		Approved	KAP4.9	uc010wfp.2	Q9BYQ8	OTTHUMG00000133584	ENST00000391415.1:c.53A>T	17.37:g.39261693A>T	ENSP00000375234:p.Asp18Val						p.D18V	NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN			1	110	+			18						Missense_Mutation	SNP	ENST00000391415.1	37	c.53A>T	CCDS54124.1	.	.	.	.	.	.	.	.	.	.	.	6.082	0.383461	0.11524	.	.	ENSG00000212722	ENST00000391415;ENST00000333994	T	0.32272	1.46	2.51	0.174	0.15040	.	.	.	.	.	T	0.25865	0.0630	M	0.64404	1.975	0.30580	P	0.762648	B	0.17852	0.024	B	0.14023	0.01	T	0.23154	-1.0196	8	0.45353	T	0.12	.	3.5681	0.07907	0.2702:0.2037:0.5261:0.0	.	18	Q9BYQ8	KRA49_HUMAN	V	18	ENSP00000375234:D18V	ENSP00000334461:D18V	D	+	2	0	KRTAP4-9	36515219	0.000000	0.05858	0.388000	0.26195	0.320000	0.28249	0.098000	0.15189	-0.245000	0.09625	0.155000	0.16302	GAC		0.627	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257688.1	NM_001146041		5	30	0	0	0	1	0	5	30				
PRAMEF11	440560	broad.mit.edu	37	1	12887612	12887612	+	Missense_Mutation	SNP	T	T	C	rs60558629	byFrequency	TCGA-ZG-A9LY-01A-11D-A41K-08	TCGA-ZG-A9LY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1f1c7e-8d3b-4323-a37d-767b65089dbf	5c2da700-8b1e-4ca3-8960-f8f0028ca0d8	g.chr1:12887612T>C	ENST00000535591.1	-	3	440	c.245A>G	c.(244-246)cAt>cGt	p.H82R		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	82					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.H82R(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GAAGCACCCATGGGCCATAGC	0.488													.|||	6	0.00119808	0.0015	0.0014	5008	,	,		19834	0.001		0.002	False		,,,				2504	0.0					ENST00000535591.1																			1	Substitution - Missense(1)	p.H82R(1)	endometrium(1)	NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						c.(244-246)cAt>cGt		PRAME family member 11																																				SO:0001583	missense	440560							g.chr1:12887612T>C	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.245A>G	1.37:g.12887612T>C	ENSP00000439551:p.His82Arg						p.H82R	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN			3	440	-			82						Missense_Mutation	SNP	ENST00000535591.1	37	c.245A>G	CCDS53268.1	.	.	.	.	.	.	.	.	.	.	.	0.046	-1.266700	0.01433	.	.	ENSG00000204513	ENST00000535591;ENST00000331684;ENST00000437584	T;T	0.14766	2.48;2.48	1.48	-2.96	0.05547	.	7.429810	0.00166	N	0.000002	T	0.07818	0.0196	N	0.17082	0.46	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.22034	-1.0228	10	0.24483	T	0.36	.	3.1667	0.06538	0.0:0.2637:0.2217:0.5146	rs60558629	82	O60813	PRA11_HUMAN	R	82;123;82	ENSP00000439551:H82R;ENSP00000391839:H82R	ENSP00000328783:H123R	H	-	2	0	PRAMEF11	12810199	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.061000	0.11693	-1.287000	0.02381	-0.610000	0.04054	CAT		0.488	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		5	233	0	0	0	1	0	5	233				
KRT4	3851	broad.mit.edu	37	12	53202552	53202552	+	Missense_Mutation	SNP	C	C	A			TCGA-ZG-A9LY-01A-11D-A41K-08	TCGA-ZG-A9LY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1f1c7e-8d3b-4323-a37d-767b65089dbf	5c2da700-8b1e-4ca3-8960-f8f0028ca0d8	g.chr12:53202552C>A	ENST00000551956.1	-	5	1409	c.917G>T	c.(916-918)aGc>aTc	p.S306I	KRT4_ENST00000458244.2_Missense_Mutation_p.S286I|KRT4_ENST00000293774.4_Missense_Mutation_p.S380I			P19013	K2C4_HUMAN	keratin 4	320	Linker 12.|Rod.				cytoskeleton organization (GO:0007010)|epithelial cell differentiation (GO:0030855)|negative regulation of epithelial cell proliferation (GO:0050680)	cell surface (GO:0009986)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						GGCAATAATGCTGTCCAGGTC	0.582																																					Pancreas(190;284 2995 41444 45903)	ENST00000551956.1																			0				endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						c.(916-918)aGc>aTc		keratin 4							109.0	99.0	102.0					12																	53202552		2203	4300	6503	SO:0001583	missense	3851					keratin filament	structural molecule activity	g.chr12:53202552C>A		CCDS41787.1, CCDS41787.2	12q13.13	2013-01-16			ENSG00000170477	ENSG00000170477		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6441	protein-coding gene	gene with protein product	"""cytokeratin 4"", ""keratin, type II cytoskeletal 4"""	123940		CYK4		16831889	Standard	NM_002272		Approved	CK4, K4	uc031qhk.1	P19013		ENST00000551956.1:c.917G>T	12.37:g.53202552C>A	ENSP00000448220:p.Ser306Ile					KRT4_ENST00000458244.2_Missense_Mutation_p.S286I|KRT4_ENST00000293774.4_Missense_Mutation_p.S380I	p.S306I			B4DRS2	B4DRS2_HUMAN			5	1409	-			306					F8VS64|Q6GTR8|Q96LA7|Q9BTL1	Missense_Mutation	SNP	ENST00000551956.1	37	c.917G>T	CCDS41787.2	.	.	.	.	.	.	.	.	.	.	C	22.0	4.228062	0.79576	.	.	ENSG00000170477	ENST00000551956;ENST00000293774;ENST00000458244	T;T;T	0.75938	-0.98;-0.98;-0.98	5.75	4.87	0.63330	Filament (1);	0.110360	0.41605	D	0.000849	D	0.90978	0.7163	H	0.98446	4.235	0.33080	D	0.536569	D	0.56746	0.977	D	0.65323	0.934	D	0.96182	0.9131	10	0.87932	D	0	.	15.0931	0.72211	0.0:0.9321:0.0:0.0679	.	320	P19013	K2C4_HUMAN	I	306;380;286	ENSP00000448220:S306I;ENSP00000293774:S380I;ENSP00000387904:S286I	ENSP00000293774:S380I	S	-	2	0	KRT4	51488819	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	6.146000	0.71777	1.595000	0.50050	-0.136000	0.14681	AGC		0.582	KRT4-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405931.1	NM_002272		18	50	1	0	9.7654e-05	1	0.000101271	18	50				
FRG1	2483	broad.mit.edu	37	4	190874231	190874231	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9LY-01A-11D-A41K-08	TCGA-ZG-A9LY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1f1c7e-8d3b-4323-a37d-767b65089dbf	5c2da700-8b1e-4ca3-8960-f8f0028ca0d8	g.chr4:190874231G>A	ENST00000226798.4	+	4	490	c.268G>A	c.(268-270)Ggc>Agc	p.G90S	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	90					mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		AGTTGATGAGGGCCCTAGTCC	0.284																																						ENST00000226798.4																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32						c.(268-270)Ggc>Agc		FSHD region gene 1							11.0	11.0	11.0					4																	190874231		2001	4062	6063	SO:0001583	missense	2483				rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus		g.chr4:190874231G>A	L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.268G>A	4.37:g.190874231G>A	ENSP00000226798:p.Gly90Ser					FRG1_ENST00000514482.1_3'UTR	p.G90S	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)	4	490	+		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)	90					A8K775	Missense_Mutation	SNP	ENST00000226798.4	37	c.268G>A	CCDS34121.1	.	.	.	.	.	.	.	.	.	.	.	20.6	4.009804	0.75046	.	.	ENSG00000109536	ENST00000226798;ENST00000531991	T;T	0.50001	1.96;0.76	3.71	3.71	0.42584	Actin cross-linking (1);	0.000000	0.85682	D	0.000000	T	0.66268	0.2772	M	0.73753	2.245	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.67597	-0.5630	10	0.39692	T	0.17	-23.5303	13.8593	0.63550	0.0:0.0:1.0:0.0	.	90	Q14331	FRG1_HUMAN	S	90;27	ENSP00000226798:G90S;ENSP00000435943:G27S	ENSP00000226798:G90S	G	+	1	0	FRG1	191111225	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	8.872000	0.92352	2.022000	0.59522	0.632000	0.83419	GGC		0.284	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		3	35	0	0	0	1	0	3	35				
PCDHA9	9752	broad.mit.edu	37	5	140228379	140228379	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9LY-01A-11D-A41K-08	TCGA-ZG-A9LY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1f1c7e-8d3b-4323-a37d-767b65089dbf	5c2da700-8b1e-4ca3-8960-f8f0028ca0d8	g.chr5:140228379C>T	ENST00000532602.1	+	1	1332	c.299C>T	c.(298-300)gCg>gTg	p.A100V	PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.A100V|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	100	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCGGAGCGCGGAGTGCAGC	0.567																																					Melanoma(55;1800 1972 14909)	ENST00000378122.3																			0				breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59						c.(298-300)gCg>gTg									100.0	89.0	93.0					5																	140228379		2196	4254	6450	SO:0001583	missense	0							g.chr5:140228379C>T	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.299C>T	5.37:g.140228379C>T	ENSP00000436042:p.Ala100Val					PCDHA9_ENST00000532602.1_Missense_Mutation_p.A100V|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron	p.A100V	NM_014005.3	NP_054724.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1023	+								O15053|Q2M3S5	Missense_Mutation	SNP	ENST00000532602.1	37	c.299C>T	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	C	10.79	1.448512	0.26074	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	T;T	0.28069	1.63;1.63	3.91	0.575	0.17374	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	4.169370	0.05596	U	0.575568	T	0.16214	0.0390	N	0.21142	0.635	0.09310	N	1	B;P	0.52170	0.435;0.951	B;B	0.28465	0.042;0.09	T	0.30268	-0.9984	10	0.48119	T	0.1	.	8.9641	0.35865	0.0:0.7469:0.0:0.2531	.	100;100	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	V	100	ENSP00000436042:A100V;ENSP00000367362:A100V	ENSP00000367362:A100V	A	+	2	0	PCDHA9	140208563	0.000000	0.05858	0.948000	0.38648	0.529000	0.34654	-1.702000	0.01901	-0.028000	0.13850	-0.236000	0.12185	GCG		0.567	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		21	123	0	0	0	1	0	21	123				
ARHGEF38	54848	broad.mit.edu	37	4	106473931	106473931	+	Silent	SNP	C	C	T			TCGA-ZG-A9LY-01A-11D-A41K-08	TCGA-ZG-A9LY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1f1c7e-8d3b-4323-a37d-767b65089dbf	5c2da700-8b1e-4ca3-8960-f8f0028ca0d8	g.chr4:106473931C>T	ENST00000420470.2	+	1	153	c.9C>T	c.(7-9)ccC>ccT	p.P3P	AC004066.3_ENST00000514879.1_RNA|ARHGEF38_ENST00000265154.2_Silent_p.P3P	NM_001242729.1	NP_001229658.1	Q9NXL2	ARH38_HUMAN	Rho guanine nucleotide exchange factor (GEF) 38	3						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(3)	11						ATATGGAGCCCAAAGAAGCCA	0.473																																						ENST00000420470.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(3)	11						c.(7-9)ccC>ccT		Rho guanine nucleotide exchange factor (GEF) 38							65.0	65.0	65.0					4																	106473931		2203	4300	6503	SO:0001819	synonymous_variant	54848				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr4:106473931C>T	AK000191	CCDS3670.1, CCDS56338.1	4q24	2012-07-24			ENSG00000236699	ENSG00000236699		"""Rho guanine nucleotide exchange factors"""	25968	protein-coding gene	gene with protein product							Standard	NM_001242729		Approved	FLJ20184	uc003hxv.2	Q9NXL2	OTTHUMG00000154752	ENST00000420470.2:c.9C>T	4.37:g.106473931C>T						ARHGEF38_ENST00000265154.2_Silent_p.P3P	p.P3P	NM_001242729.1	NP_001229658.1	Q9NXL2	ARH38_HUMAN			1	153	+			3					C9JIB4	Silent	SNP	ENST00000420470.2	37	c.9C>T	CCDS56338.1																																																																																				0.473	ARHGEF38-001	PUTATIVE	basic|appris_principal|readthrough_transcript|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000336934.3	NM_017700		4	72	0	0	0	1	0	4	72				
RBMS3	27303	broad.mit.edu	37	3	30029706	30029706	+	Missense_Mutation	SNP	T	T	C			TCGA-ZG-A9LY-01A-11D-A41K-08	TCGA-ZG-A9LY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1f1c7e-8d3b-4323-a37d-767b65089dbf	5c2da700-8b1e-4ca3-8960-f8f0028ca0d8	g.chr3:30029706T>C	ENST00000383767.2	+	13	1507	c.1171T>C	c.(1171-1173)Tct>Cct	p.S391P	RBMS3_ENST00000383766.2_Missense_Mutation_p.S373P|RBMS3_ENST00000473799.1_3'UTR|RBMS3_ENST00000396583.3_Missense_Mutation_p.S388P|RBMS3_ENST00000434693.2_Missense_Mutation_p.S390P|RBMS3_ENST00000452462.1_Missense_Mutation_p.S375P|RBMS3_ENST00000456853.1_Missense_Mutation_p.S388P|RBMS3_ENST00000273139.9_Missense_Mutation_p.S375P			Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting protein 3	391					positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				GACAGCTGTTTCTATTGAAGT	0.423																																						ENST00000434693.2																			0				breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11						c.(1168-1170)Tct>Cct		RNA binding motif, single stranded interacting protein 3							81.0	77.0	78.0					3																	30029706		2203	4300	6503	SO:0001583	missense	27303					cytoplasm	nucleotide binding|RNA binding	g.chr3:30029706T>C	AF023259	CCDS33724.1, CCDS33725.1, CCDS33726.1, CCDS54557.1, CCDS54558.1	3p24-p23	2013-02-12	2010-04-20		ENSG00000144642	ENSG00000144642		"""RNA binding motif (RRM) containing"""	13427	protein-coding gene	gene with protein product	"""RNA-binding protein"""	605786	"""RNA binding motif, single stranded interacting protein"""			10675610	Standard	NM_001003793		Approved		uc003cel.3	Q6XE24	OTTHUMG00000155699	ENST00000383767.2:c.1171T>C	3.37:g.30029706T>C	ENSP00000373277:p.Ser391Pro					RBMS3_ENST00000456853.1_Missense_Mutation_p.S388P|RBMS3_ENST00000383767.2_Missense_Mutation_p.S391P|RBMS3_ENST00000383766.2_Missense_Mutation_p.S373P|RBMS3_ENST00000396583.3_Missense_Mutation_p.S388P|RBMS3_ENST00000473799.1_3'UTR|RBMS3_ENST00000452462.1_Missense_Mutation_p.S375P|RBMS3_ENST00000273139.9_Missense_Mutation_p.S375P	p.S390P	NM_001003793.2	NP_001003793.1	Q6XE24	RBMS3_HUMAN			13	1868	+		Ovarian(412;0.0956)	391					A8K9S4|B7ZL17|G5E9J9|O75876|Q17RI0|Q6XE23	Missense_Mutation	SNP	ENST00000383767.2	37	c.1168T>C	CCDS33724.1	.	.	.	.	.	.	.	.	.	.	T	6.434	0.448142	0.12223	.	.	ENSG00000144642	ENST00000434693;ENST00000396583;ENST00000383767;ENST00000273139;ENST00000383766;ENST00000452462;ENST00000456853	T;T;T;T;T;T;T	0.25749	1.78;1.81;1.78;1.78;1.94;1.78;1.81	5.79	4.66	0.58398	.	0.177283	0.50627	D	0.000102	T	0.10208	0.0250	N	0.08118	0	0.38739	D	0.953857	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.12156	0.007;0.001;0.007;0.0	T	0.24404	-1.0161	9	.	.	.	.	3.3152	0.07030	0.0:0.3275:0.0:0.6725	.	375;388;373;391	G5E9J9;Q6XE24-2;Q6XE24-3;Q6XE24	.;.;.;RBMS3_HUMAN	P	390;388;391;375;373;375;388	ENSP00000395592:S390P;ENSP00000379828:S388P;ENSP00000373277:S391P;ENSP00000273139:S375P;ENSP00000373276:S373P;ENSP00000397926:S375P;ENSP00000400519:S388P	.	S	+	1	0	RBMS3	30004710	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.776000	0.55356	2.218000	0.71995	0.533000	0.62120	TCT		0.423	RBMS3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341306.1	NM_001003792		5	18	0	0	0	1	0	5	18				
P2RY14	9934	broad.mit.edu	37	3	150931217	150931217	+	Missense_Mutation	SNP	G	G	T			TCGA-ZG-A9LY-01A-11D-A41K-08	TCGA-ZG-A9LY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1f1c7e-8d3b-4323-a37d-767b65089dbf	5c2da700-8b1e-4ca3-8960-f8f0028ca0d8	g.chr3:150931217G>T	ENST00000309170.3	-	3	1200	c.888C>A	c.(886-888)ttC>ttA	p.F296L	MED12L_ENST00000273432.4_Intron|P2RY14_ENST00000424796.2_Missense_Mutation_p.F296L|MED12L_ENST00000474524.1_Intron	NM_001081455.1|NM_014879.3	NP_001074924.1|NP_055694.3	Q15391	P2Y14_HUMAN	purinergic receptor P2Y, G-protein coupled, 14	296					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|UDP-activated nucleotide receptor activity (GO:0045029)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)	20			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GGCATAGAAAGAAATAAATAA	0.363																																						ENST00000309170.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)	20						c.(886-888)ttC>ttA		purinergic receptor P2Y, G-protein coupled, 14							89.0	92.0	91.0					3																	150931217		2203	4300	6503	SO:0001583	missense	9934					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled|UDP-activated nucleotide receptor activity	g.chr3:150931217G>T	D13626	CCDS3156.1	3q21-q25	2012-08-08	2004-07-12	2004-07-14	ENSG00000174944	ENSG00000174944		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	16442	protein-coding gene	gene with protein product		610116	"""G protein-coupled receptor 105"""	GPR105			Standard	NM_014879		Approved	KIAA0001	uc003eys.1	Q15391	OTTHUMG00000159859	ENST00000309170.3:c.888C>A	3.37:g.150931217G>T	ENSP00000308361:p.Phe296Leu					P2RY14_ENST00000424796.2_Missense_Mutation_p.F296L|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron	p.F296L	NM_001081455.1|NM_014879.3	NP_001074924.1|NP_055694.3	Q15391	P2Y14_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		3	1200	-			296					Q8IYT7	Missense_Mutation	SNP	ENST00000309170.3	37	c.888C>A	CCDS3156.1	.	.	.	.	.	.	.	.	.	.	G	17.65	3.441096	0.63067	.	.	ENSG00000174944	ENST00000309170;ENST00000424796	T;T	0.22134	1.97;1.97	5.36	4.47	0.54385	.	0.000000	0.64402	D	0.000002	T	0.19327	0.0464	N	0.08118	0	0.44531	D	0.997485	D	0.71674	0.998	D	0.65010	0.931	T	0.12837	-1.0532	10	0.46703	T	0.11	-34.2623	4.5554	0.12135	0.1482:0.0:0.5117:0.34	.	296	Q15391	P2Y14_HUMAN	L	296	ENSP00000308361:F296L;ENSP00000408733:F296L	ENSP00000308361:F296L	F	-	3	2	P2RY14	152413907	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.904000	0.39868	1.235000	0.43724	0.650000	0.86243	TTC		0.363	P2RY14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357789.1	NM_014879		16	69	1	0	0.000422831	1	0.000430519	16	69				
ALK	238	broad.mit.edu	37	2	29917842	29917842	+	Missense_Mutation	SNP	A	A	C			TCGA-ZG-A9LY-01A-11D-A41K-08	TCGA-ZG-A9LY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1f1c7e-8d3b-4323-a37d-767b65089dbf	5c2da700-8b1e-4ca3-8960-f8f0028ca0d8	g.chr2:29917842A>C	ENST00000389048.3	-	3	1732	c.826T>G	c.(826-828)Tat>Gat	p.Y276D	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	276	MAM 1. {ECO:0000255|PROSITE- ProRule:PRU00128}.				activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	GGAGGGGAATACTCCAGCTCA	0.577			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													ENST00000389048.3			yes	Dom	yes	Familial neuroblastoma	2	2p23	238	"""T, Mis, A"""	anaplastic lymphoma kinase (Ki-1)			"""L, E, M"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	neuroblastoma	"""ALCL, NSCLC, Neuroblastoma"""	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	0				NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340						c.(826-828)Tat>Gat		anaplastic lymphoma receptor tyrosine kinase	Adenosine triphosphate(DB00171)						97.0	94.0	95.0					2																	29917842		2203	4300	6503	SO:0001583	missense	238	Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:29917842A>C	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"""CD molecules"""	427	protein-coding gene	gene with protein product		105590	"""anaplastic lymphoma kinase (Ki-1)"""			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.826T>G	2.37:g.29917842A>C	ENSP00000373700:p.Tyr276Asp					ALK_ENST00000431873.1_Intron	p.Y276D	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN			3	1732	-	Acute lymphoblastic leukemia(172;0.155)		276			MAM 1.		Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	ENST00000389048.3	37	c.826T>G	CCDS33172.1	.	.	.	.	.	.	.	.	.	.	A	18.51	3.639636	0.67244	.	.	ENSG00000171094	ENST00000389048	T	0.02552	4.25	6.07	4.91	0.64330	Concanavalin A-like lectin/glucanase (1);MAM domain (1);	.	.	.	.	T	0.03136	0.0092	N	0.08118	0	0.80722	D	1	P	0.51351	0.944	P	0.53313	0.723	T	0.66476	-0.5914	8	.	.	.	.	9.6287	0.39765	0.8446:0.0:0.0:0.1554	.	276	Q9UM73	ALK_HUMAN	D	276	ENSP00000373700:Y276D	.	Y	-	1	0	ALK	29771346	1.000000	0.71417	0.986000	0.45419	0.877000	0.50540	5.061000	0.64319	1.097000	0.41459	0.533000	0.62120	TAT		0.577	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304		15	48	0	0	0	1	0	15	48				
NUP214	8021	broad.mit.edu	37	9	134034812	134034812	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9LY-01A-11D-A41K-08	TCGA-ZG-A9LY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1f1c7e-8d3b-4323-a37d-767b65089dbf	5c2da700-8b1e-4ca3-8960-f8f0028ca0d8	g.chr9:134034812G>A	ENST00000359428.5	+	18	2623	c.2479G>A	c.(2479-2481)Gat>Aat	p.D827N	NUP214_ENST00000451030.1_Missense_Mutation_p.D828N|RP11-544A12.4_ENST00000586290.1_RNA|RP11-544A12.4_ENST00000588378.1_RNA|RP11-544A12.4_ENST00000589667.1_RNA|NUP214_ENST00000411637.2_Missense_Mutation_p.D817N|RP11-544A12.4_ENST00000415391.2_RNA|RP11-544A12.4_ENST00000589128.1_RNA|RP11-544A12.4_ENST00000590461.1_RNA|RP11-544A12.4_ENST00000589540.1_RNA|RP11-544A12.4_ENST00000587264.1_RNA|RP11-544A12.4_ENST00000417798.2_RNA|RP11-544A12.4_ENST00000587408.1_RNA			P35658	NU214_HUMAN	nucleoporin 214kDa	827	11 X 5 AA approximate repeats.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TGCTGTCCAAGATGTGAATGA	0.363			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""																																Pancreas(4;24 48 25510 30394 32571)	ENST00000359428.5				Dom	yes		9	9q34.1	8021	T	nucleoporin 214kDa (CAN)			L	"""DEK, SET, ABL1"""		"""AML, T-ALL"""		0				NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86						c.(2479-2481)Gat>Aat		nucleoporin 214kDa							99.0	88.0	91.0					9																	134034812		2203	4300	6503	SO:0001583	missense	8021				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding	g.chr9:134034812G>A	X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"""nuclear pore complex protein Nup214"", ""CAN protein, putative oncogene"""	114350	"""nucleoporin 214kD (CAIN)"""			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.2479G>A	9.37:g.134034812G>A	ENSP00000352400:p.Asp827Asn					RP11-544A12.4_ENST00000587408.1_RNA|RP11-544A12.4_ENST00000589667.1_RNA|RP11-544A12.4_ENST00000589128.1_RNA|RP11-544A12.4_ENST00000590461.1_RNA|RP11-544A12.4_ENST00000417798.2_RNA|RP11-544A12.4_ENST00000586290.1_RNA|RP11-544A12.4_ENST00000415391.2_RNA|NUP214_ENST00000451030.1_Missense_Mutation_p.D828N|RP11-544A12.4_ENST00000589540.1_RNA|NUP214_ENST00000411637.2_Missense_Mutation_p.D817N|RP11-544A12.4_ENST00000587264.1_RNA|RP11-544A12.4_ENST00000588378.1_RNA	p.D827N			P35658	NU214_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)	18	2623	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	827			11 X 5 AA approximate repeats.		A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Missense_Mutation	SNP	ENST00000359428.5	37	c.2479G>A	CCDS6940.1	.	.	.	.	.	.	.	.	.	.	G	36	5.838149	0.97009	.	.	ENSG00000126883	ENST00000359428;ENST00000411637;ENST00000451030;ENST00000541375;ENST00000540899;ENST00000438605	T;T;T	0.35605	1.31;1.3;1.32	5.9	5.9	0.94986	.	0.000000	0.43919	D	0.000506	T	0.43656	0.1257	N	0.08118	0	0.80722	D	1	D;D;P;D	0.89917	0.988;1.0;0.954;1.0	D;D;P;D	0.97110	0.981;1.0;0.683;1.0	T	0.54200	-0.8329	10	0.66056	D	0.02	-21.8153	19.2703	0.94006	0.0:0.0:1.0:0.0	.	816;421;817;827	P35658-2;Q5JUP9;P35658-4;P35658	.;.;.;NU214_HUMAN	N	827;817;828;816;421;256	ENSP00000352400:D827N;ENSP00000396576:D817N;ENSP00000405014:D828N	ENSP00000352400:D827N	D	+	1	0	NUP214	133024633	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.196000	0.94978	2.806000	0.96561	0.655000	0.94253	GAT		0.363	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	NM_005085		10	29	0	0	0	1	0	10	29				
IGKV2-30	28919	broad.mit.edu	37	2	89544412	89544412	+	RNA	SNP	C	C	T	rs375410681		TCGA-ZG-A9LY-01A-11D-A41K-08	TCGA-ZG-A9LY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1f1c7e-8d3b-4323-a37d-767b65089dbf	5c2da700-8b1e-4ca3-8960-f8f0028ca0d8	g.chr2:89544412C>T	ENST00000468494.1	-	0	241									immunoglobulin kappa variable 2-30																		ATAAATTAGGCGCCTTGGAGA	0.522																																						ENST00000468494.1																			0															A		1,3619		0,1,1809	96.0	94.0	95.0			-6.6	0.0	2		95	2,8140		0,2,4069	no	intergenic				0,3,5878	TT,TC,CC		0.0246,0.0276,0.0255			89544412	3,11759	1810	4071	5881			0							g.chr2:89544412C>T	X63403		2p11.2	2012-02-08			ENSG00000243238	ENSG00000243238		"""Immunoglobulins / IGK locus"""	5785	other	immunoglobulin gene							Standard	NG_000834		Approved				OTTHUMG00000151692		2.37:g.89544412C>T														0	241	-									RNA	SNP	ENST00000468494.1	37																																																																																						0.522	IGKV2-30-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323491.1	NG_000834		30	97	0	0	0	1	0	30	97				
FLG2	388698	broad.mit.edu	37	1	152327955	152327955	+	Silent	SNP	G	G	A			TCGA-ZG-A9LY-01A-11D-A41K-08	TCGA-ZG-A9LY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1f1c7e-8d3b-4323-a37d-767b65089dbf	5c2da700-8b1e-4ca3-8960-f8f0028ca0d8	g.chr1:152327955G>A	ENST00000388718.5	-	3	2379	c.2307C>T	c.(2305-2307)agC>agT	p.S769S	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	769	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.S769S(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTTGGCCATAGCTAGACTGAC	0.517																																						ENST00000388718.5																			1	Substitution - coding silent(1)	p.S769S(1)	kidney(1)	NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(2305-2307)agC>agT		filaggrin family member 2							412.0	337.0	362.0					1																	152327955		2203	4300	6503	SO:0001819	synonymous_variant	388698						calcium ion binding|structural molecule activity	g.chr1:152327955G>A	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.2307C>T	1.37:g.152327955G>A						FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.S769S	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2379	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		769			Ser-rich.		Q9H4U1	Silent	SNP	ENST00000388718.5	37	c.2307C>T	CCDS30861.1																																																																																				0.517	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		7	318	0	0	0	1	0	7	318				
RHOA	387	broad.mit.edu	37	3	49412958	49412958	+	Missense_Mutation	SNP	A	A	C			TCGA-ZG-A9LY-01A-11D-A41K-08	TCGA-ZG-A9LY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1f1c7e-8d3b-4323-a37d-767b65089dbf	5c2da700-8b1e-4ca3-8960-f8f0028ca0d8	g.chr3:49412958A>C	ENST00000418115.1	-	2	449	c.65T>G	c.(64-66)cTc>cGc	p.L22R	RHOA_ENST00000454011.2_Missense_Mutation_p.L22R|RHOA_ENST00000422781.1_Missense_Mutation_p.L22R	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A	22					actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|apical junction assembly (GO:0043297)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cerebral cortex cell migration (GO:0021795)|cleavage furrow formation (GO:0036089)|forebrain radial glial cell differentiation (GO:0021861)|negative chemotaxis (GO:0050919)|negative regulation of axonogenesis (GO:0050771)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification involved in bone maturation (GO:0043931)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of podosome assembly (GO:0071803)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of translation (GO:0045727)|positive regulation of vasoconstriction (GO:0045907)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion transport (GO:0051924)|regulation of cell migration (GO:0030334)|regulation of dendrite development (GO:0050773)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of osteoblast proliferation (GO:0033688)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|Rho protein signal transduction (GO:0007266)|skeletal muscle tissue development (GO:0007519)|small GTPase mediated signal transduction (GO:0007264)|spindle assembly involved in mitosis (GO:0090307)|stress fiber assembly (GO:0043149)|stress-activated protein kinase signaling cascade (GO:0031098)|substantia nigra development (GO:0021762)|trabecula morphogenesis (GO:0061383)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical junction complex (GO:0043296)|axon (GO:0030424)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin binding (GO:0017022)			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		GAAGACTATGAGCAAGCATGT	0.473																																						ENST00000418115.1																			0				cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(64-66)cTc>cGc		ras homolog family member A	Atorvastatin(DB01076)|Simvastatin(DB00641)						147.0	133.0	138.0					3																	49412958		2203	4300	6503	SO:0001583	missense	387				axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity|myosin binding	g.chr3:49412958A>C	BC001360	CCDS2795.1	3p21.3	2012-02-27	2012-02-27	2004-03-23	ENSG00000067560	ENSG00000067560			667	protein-coding gene	gene with protein product		165390	"""ras homolog gene family, member A"""	ARH12, ARHA		9605859	Standard	NM_001664		Approved	RhoA, Rho12, RHOH12	uc003cwu.3	P61586	OTTHUMG00000156838	ENST00000418115.1:c.65T>G	3.37:g.49412958A>C	ENSP00000400175:p.Leu22Arg					RHOA_ENST00000454011.2_Missense_Mutation_p.L22R|RHOA_ENST00000422781.1_Missense_Mutation_p.L22R	p.L22R	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	2	449	-			22					P06749|Q53HM4|Q5U024|Q9UDJ0|Q9UEJ4	Missense_Mutation	SNP	ENST00000418115.1	37	c.65T>G	CCDS2795.1	.	.	.	.	.	.	.	.	.	.	A	27.8	4.860276	0.91433	.	.	ENSG00000067560	ENST00000418115;ENST00000454011;ENST00000422781;ENST00000445425;ENST00000431929	T;T;T;T;T	0.80824	-1.42;-1.42;-1.42;-1.42;-1.42	5.89	5.89	0.94794	Small GTP-binding protein domain (1);	0.000000	0.64402	D	0.000001	D	0.92880	0.7735	H	0.96748	3.875	0.80722	D	1	P	0.42248	0.774	P	0.60345	0.873	D	0.94522	0.7728	10	0.87932	D	0	.	15.1943	0.73075	1.0:0.0:0.0:0.0	.	22	P61586	RHOA_HUMAN	R	22	ENSP00000400175:L22R;ENSP00000394483:L22R;ENSP00000413587:L22R;ENSP00000408402:L22R;ENSP00000400747:L22R	ENSP00000400175:L22R	L	-	2	0	RHOA	49387962	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.178000	0.94855	2.266000	0.75297	0.456000	0.33151	CTC		0.473	RHOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346157.3	NM_001664		21	89	0	0	0	1	0	21	89				
B9D1	27077	broad.mit.edu	37	17	19247157	19247157	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9LY-01A-11D-A41K-08	TCGA-ZG-A9LY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1f1c7e-8d3b-4323-a37d-767b65089dbf	5c2da700-8b1e-4ca3-8960-f8f0028ca0d8	g.chr17:19247157G>A	ENST00000261499.4	-	6	561	c.418C>T	c.(418-420)Cgg>Tgg	p.R140W	B9D1_ENST00000477478.2_Silent_p.G115G|B9D1_ENST00000395616.3_Missense_Mutation_p.R140W|B9D1_ENST00000575403.1_Silent_p.G115G|B9D1_ENST00000461069.2_Missense_Mutation_p.R140W|B9D1_ENST00000395615.1_Missense_Mutation_p.R140W|MIR1180_ENST00000408613.1_RNA	NM_015681.3	NP_056496.1	Q9UPM9	B9D1_HUMAN	B9 protein domain 1	140					camera-type eye development (GO:0043010)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|in utero embryonic development (GO:0001701)|neuroepithelial cell differentiation (GO:0060563)|regulation of protein localization (GO:0032880)|smoothened signaling pathway (GO:0007224)|vasculature development (GO:0001944)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)	hedgehog receptor activity (GO:0008158)	p.R140W(1)		large_intestine(3)|urinary_tract(1)	4	all_cancers(12;2.04e-05)|all_epithelial(12;0.000806)|Hepatocellular(7;0.00345)|Breast(13;0.143)					TCGGGCCGCCGCCCCATGAAC	0.617																																						ENST00000461069.2																			1	Substitution - Missense(1)	p.R140W(1)	large_intestine(1)	large_intestine(3)|urinary_tract(1)	4						c.(418-420)Cgg>Tgg		B9 protein domain 1							47.0	52.0	51.0					17																	19247157		2203	4300	6503	SO:0001583	missense	27077				cilium assembly	centrosome|microtubule basal body	protein binding	g.chr17:19247157G>A	BC002944	CCDS11205.1, CCDS58528.1	17p11.2	2014-09-17			ENSG00000108641	ENSG00000108641			24123	protein-coding gene	gene with protein product	"""endothelial precursor protein B9"""	614144				21493627	Standard	NM_015681		Approved	B9, EPPB9, MKS9	uc010vyr.2	Q9UPM9	OTTHUMG00000059586	ENST00000261499.4:c.418C>T	17.37:g.19247157G>A	ENSP00000261499:p.Arg140Trp					B9D1_ENST00000395615.1_Missense_Mutation_p.R140W|B9D1_ENST00000477478.2_Silent_p.G115G|B9D1_ENST00000395616.3_Missense_Mutation_p.R140W|B9D1_ENST00000261499.4_Missense_Mutation_p.R140W|B9D1_ENST00000575403.1_Silent_p.G115G	p.R140W			Q9UPM9	B9D1_HUMAN			6	462	-	all_cancers(12;2.04e-05)|all_epithelial(12;0.000806)|Hepatocellular(7;0.00345)|Breast(13;0.143)		140					Q9BU22	Missense_Mutation	SNP	ENST00000261499.4	37	c.418C>T	CCDS11205.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.979830	0.74360	.	.	ENSG00000108641	ENST00000395615;ENST00000261499;ENST00000395616	T;T;T	0.70631	-0.5;-0.5;-0.5	4.72	4.72	0.59763	.	0.232405	0.42682	D	0.000676	D	0.84566	0.5500	M	0.89214	3.015	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.86433	0.1762	10	0.66056	D	0.02	.	10.5789	0.45244	0.0:0.0:0.7525:0.2475	.	140	Q9UPM9	B9D1_HUMAN	W	140	ENSP00000378977:R140W;ENSP00000261499:R140W;ENSP00000378978:R140W	ENSP00000261499:R140W	R	-	1	2	B9D1	19187750	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.561000	0.60809	2.447000	0.82792	0.549000	0.68633	CGG		0.617	B9D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132494.1	NM_015681		7	34	0	0	0	1	0	7	34				
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-ZG-A9LY-01A-11D-A41K-08	TCGA-ZG-A9LY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1f1c7e-8d3b-4323-a37d-767b65089dbf	5c2da700-8b1e-4ca3-8960-f8f0028ca0d8	g.chr22:29091840T>C	ENST00000405598.1	-	12	1308	c.1117A>G	c.(1117-1119)Aag>Gag	p.K373E	CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000544772.1_Missense_Mutation_p.K152E|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E			O96017	CHK2_HUMAN	checkpoint kinase 2	373	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			9	Substitution - Missense(9)	p.K373E(9)	kidney(4)|prostate(2)|endometrium(1)|stomach(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(454-456)Aag>Gag	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2																																				SO:0001583	missense	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091840T>C	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1117A>G	22.37:g.29091840T>C	ENSP00000386087:p.Lys373Glu					CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E	p.K152E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1890	-			373			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	37	c.454A>G	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	T	19.06	3.754336	0.69648	.	.	ENSG00000183765	ENST00000348295;ENST00000382578;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731	T;T;T;T;T;T;T;T;T	0.54071	0.9;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.9	5.89	5.89	0.94794	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.043710	0.85682	D	0.000000	T	0.56292	0.1975	N	0.11756	0.17	0.80722	D	1	D;D;D;D;D;D	0.76494	0.996;0.999;0.998;0.998;0.993;0.991	P;D;D;D;D;P	0.74674	0.905;0.984;0.943;0.969;0.923;0.896	T	0.64769	-0.6329	10	0.87932	D	0	-1.7726	15.4726	0.75453	0.0:0.0:0.0:1.0	.	282;152;373;344;373;416	O96017-4;Q9HBS5;A8JZZ5;O96017-12;O96017;O96017-9	.;.;.;.;CHK2_HUMAN;.	E	344;282;152;373;373;373;416;282;344	ENSP00000329012:K344E;ENSP00000372021:K282E;ENSP00000442458:K152E;ENSP00000329178:K373E;ENSP00000385747:K373E;ENSP00000386087:K373E;ENSP00000372023:K416E;ENSP00000384919:K282E;ENSP00000384835:K344E	ENSP00000329178:K373E	K	-	1	0	CHEK2	27421840	1.000000	0.71417	1.000000	0.80357	0.479000	0.33129	4.270000	0.58896	2.248000	0.74166	0.528000	0.53228	AAG		0.418	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		3	48	0	0	0	1	0	3	48				
CD209	30835	broad.mit.edu	37	19	7810767	7810767	+	Missense_Mutation	SNP	G	G	A	rs146082308		TCGA-ZG-A9LY-01A-11D-A41K-08	TCGA-ZG-A9LY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1f1c7e-8d3b-4323-a37d-767b65089dbf	5c2da700-8b1e-4ca3-8960-f8f0028ca0d8	g.chr19:7810767G>A	ENST00000315599.7	-	4	407	c.385C>T	c.(385-387)Cgg>Tgg	p.R129W	CD209_ENST00000593660.1_Missense_Mutation_p.R105W|CD209_ENST00000301357.8_Missense_Mutation_p.R85W|CD209_ENST00000394161.5_Intron|CD209_ENST00000354397.6_Missense_Mutation_p.R129W|CD209_ENST00000601951.1_Missense_Mutation_p.R105W|CD209_ENST00000315591.8_Missense_Mutation_p.R105W|CD209_ENST00000204801.8_Missense_Mutation_p.R85W|CD209_ENST00000394173.4_Intron|CD209_ENST00000602261.1_Missense_Mutation_p.R129W|CD209_ENST00000593821.1_Missense_Mutation_p.R85W|CD209_ENST00000601256.1_Missense_Mutation_p.R105W	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	129	7 X approximate tandem repeats.				antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|heterophilic cell-cell adhesion (GO:0007157)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of T cell proliferation (GO:0042129)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|virion binding (GO:0046790)	p.R129W(4)		endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GCCTTCAGCCGGGTCAGCTCC	0.567																																						ENST00000315599.7																			4	Substitution - Missense(4)	p.R129W(4)	endometrium(4)	endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(385-387)Cgg>Tgg		CD209 molecule							89.0	92.0	91.0					19																	7810767		2202	4297	6499	SO:0001583	missense	30835				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	g.chr19:7810767G>A	M98457	CCDS12186.1, CCDS45949.1, CCDS45950.1, CCDS45951.1, CCDS45952.1, CCDS59344.1, CCDS59345.1	19p13	2011-08-30	2006-03-28			ENSG00000090659		"""C-type lectin domain containing"", ""CD molecules"""	1641	protein-coding gene	gene with protein product		604672	"""CD209 antigen"""			1518869	Standard	NM_021155		Approved	DC-SIGN, CDSIGN, DC-SIGN1, CLEC4L	uc002mht.2	Q9NNX6		ENST00000315599.7:c.385C>T	19.37:g.7810767G>A	ENSP00000315477:p.Arg129Trp					CD209_ENST00000301357.8_Missense_Mutation_p.R85W|CD209_ENST00000601951.1_Missense_Mutation_p.R105W|CD209_ENST00000204801.8_Missense_Mutation_p.R85W|CD209_ENST00000593821.1_Missense_Mutation_p.R85W|CD209_ENST00000593660.1_Missense_Mutation_p.R105W|CD209_ENST00000354397.6_Missense_Mutation_p.R129W|CD209_ENST00000394161.5_Intron|CD209_ENST00000394173.4_Intron|CD209_ENST00000601256.1_Missense_Mutation_p.R105W|CD209_ENST00000315591.8_Missense_Mutation_p.R105W|CD209_ENST00000602261.1_Missense_Mutation_p.R129W	p.R129W	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN			4	407	-			129			7 X approximate tandem repeats.		A8KAM4|A8MVQ9|G5E9C4|Q2TB19|Q96QP7|Q96QP8|Q96QP9|Q96QQ0|Q96QQ1|Q96QQ2|Q96QQ3|Q96QQ4|Q96QQ5|Q96QQ6|Q96QQ7|Q96QQ8	Missense_Mutation	SNP	ENST00000315599.7	37	c.385C>T	CCDS12186.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.167766	0.38315	.	.	ENSG00000090659	ENST00000315599;ENST00000354397;ENST00000315591;ENST00000204801;ENST00000394173;ENST00000301357;ENST00000540789	T;T;T;T;T	0.24151	1.87;1.87;1.87;1.87;2.27	1.37	0.149	0.14863	.	.	.	.	.	T	0.24236	0.0587	L	0.28192	0.835	0.09310	N	1	B;B;D;D;B;D;B;B;B;B	0.64830	0.021;0.005;0.968;0.994;0.012;0.985;0.007;0.011;0.01;0.012	B;B;P;P;B;P;B;B;B;B	0.54815	0.008;0.008;0.534;0.761;0.005;0.663;0.002;0.006;0.003;0.009	T	0.12016	-1.0564	9	0.56958	D	0.05	.	4.5792	0.12250	0.0:0.0:0.6254:0.3746	.	129;105;85;85;105;129;129;105;105;129	Q9NNX6-2;Q9NNX6-12;Q9NNX6-7;Q9NNX6-8;Q9NNX6-6;G5E9C4;Q9NNX6;Q9NNX6-11;Q9NNX6-10;Q9NNX6-5	.;.;.;.;.;.;CD209_HUMAN;.;.;.	W	129;129;105;85;129;85;113	ENSP00000315477:R129W;ENSP00000346373:R129W;ENSP00000315407:R105W;ENSP00000204801:R85W;ENSP00000301357:R85W	ENSP00000204801:R85W	R	-	1	2	CD209	7716767	0.000000	0.05858	0.010000	0.14722	0.462000	0.32619	-0.010000	0.12743	0.103000	0.17682	0.449000	0.29647	CGG		0.567	CD209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462241.1	NM_021155		5	124	0	0	0	1	0	5	124				
TMEM145	284339	broad.mit.edu	37	19	42821926	42821926	+	Silent	SNP	G	G	A			TCGA-ZG-A9LY-01A-11D-A41K-08	TCGA-ZG-A9LY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1f1c7e-8d3b-4323-a37d-767b65089dbf	5c2da700-8b1e-4ca3-8960-f8f0028ca0d8	g.chr19:42821926G>A	ENST00000301204.3	+	12	1007	c.966G>A	c.(964-966)ctG>ctA	p.L322L	TMEM145_ENST00000598766.1_Silent_p.L346L	NM_173633.2	NP_775904.2	Q8NBT3	TM145_HUMAN	transmembrane protein 145	322					G-protein coupled receptor signaling pathway (GO:0007186)|response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				TCATTGGACTGCAGGTGGCGG	0.567																																						ENST00000598766.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27						c.(1036-1038)ctG>ctA		transmembrane protein 145							157.0	122.0	134.0					19																	42821926		2203	4300	6503	SO:0001819	synonymous_variant	284339					integral to membrane		g.chr19:42821926G>A	AK075286	CCDS12603.1	19q13.2	2008-02-05				ENSG00000167619			26912	protein-coding gene	gene with protein product							Standard	NM_173633		Approved	FLJ90805	uc002otk.1	Q8NBT3		ENST00000301204.3:c.966G>A	19.37:g.42821926G>A						TMEM145_ENST00000301204.3_Silent_p.L322L	p.L346L			Q8NBT3	TM145_HUMAN			12	1038	+		Prostate(69;0.00682)	322						Silent	SNP	ENST00000301204.3	37	c.1038G>A	CCDS12603.1																																																																																				0.567	TMEM145-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463737.1	NM_173633		3	43	0	0	0	1	0	3	43				
NLRP7	199713	broad.mit.edu	37	19	55450938	55450938	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9LY-01A-11D-A41K-08	TCGA-ZG-A9LY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1f1c7e-8d3b-4323-a37d-767b65089dbf	5c2da700-8b1e-4ca3-8960-f8f0028ca0d8	g.chr19:55450938G>A	ENST00000590030.1	-	3	1289	c.1249C>T	c.(1249-1251)Ctc>Ttc	p.L417F	NLRP7_ENST00000340844.2_Missense_Mutation_p.L417F|NLRP7_ENST00000328092.5_Missense_Mutation_p.L417F|NLRP7_ENST00000446217.1_Missense_Mutation_p.L445F|NLRP7_ENST00000448121.2_Missense_Mutation_p.L417F|NLRP7_ENST00000592784.1_Missense_Mutation_p.L417F|NLRP7_ENST00000588756.1_Missense_Mutation_p.L417F			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	417	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GCGGCCAGGAGGCTCAGCGTC	0.706																																						ENST00000588756.1																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73						c.(1249-1251)Ctc>Ttc		NLR family, pyrin domain containing 7							19.0	16.0	17.0					19																	55450938		2186	4265	6451	SO:0001583	missense	199713						ATP binding	g.chr19:55450938G>A	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.1249C>T	19.37:g.55450938G>A	ENSP00000465520:p.Leu417Phe					NLRP7_ENST00000592784.1_Missense_Mutation_p.L417F|NLRP7_ENST00000590030.1_Missense_Mutation_p.L417F|NLRP7_ENST00000328092.5_Missense_Mutation_p.L417F|NLRP7_ENST00000340844.2_Missense_Mutation_p.L417F|NLRP7_ENST00000446217.1_Missense_Mutation_p.L445F|NLRP7_ENST00000448121.2_Missense_Mutation_p.L417F	p.L417F			Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	6	1735	-			417			NACHT.		E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	ENST00000590030.1	37	c.1249C>T	CCDS33109.1	.	.	.	.	.	.	.	.	.	.	G	7.393	0.631184	0.14322	.	.	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217;ENST00000399724	T;T;T;T	0.73469	-0.69;-0.69;-0.75;-0.71	2.06	-0.165	0.13355	.	0.666605	0.11552	N	0.552629	T	0.58892	0.2154	L	0.33485	1.01	0.09310	N	1	B;B;B;P	0.36990	0.043;0.024;0.024;0.577	B;B;B;B	0.43123	0.017;0.038;0.038;0.409	T	0.48293	-0.9048	10	0.09843	T	0.71	.	2.206	0.03935	0.2997:0.0:0.4514:0.2489	.	445;417;417;417	E7EPM2;Q32MH9;Q8WX94;Q8WX94-2	.;.;NALP7_HUMAN;.	F	417;417;417;445;184	ENSP00000329568:L417F;ENSP00000409137:L417F;ENSP00000339491:L417F;ENSP00000414273:L445F	ENSP00000329568:L417F	L	-	1	0	NLRP7	60142750	0.000000	0.05858	0.003000	0.11579	0.006000	0.05464	0.422000	0.21296	0.032000	0.15435	-1.721000	0.00707	CTC		0.706	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		6	24	0	0	0	1	0	6	24				
NELL2	4753	broad.mit.edu	37	12	45209834	45209834	+	Missense_Mutation	SNP	C	C	A			TCGA-ZG-A9LY-01A-11D-A41K-08	TCGA-ZG-A9LY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1f1c7e-8d3b-4323-a37d-767b65089dbf	5c2da700-8b1e-4ca3-8960-f8f0028ca0d8	g.chr12:45209834C>A	ENST00000429094.2	-	3	774	c.270G>T	c.(268-270)ttG>ttT	p.L90F	NELL2_ENST00000549027.1_Missense_Mutation_p.L89F|NELL2_ENST00000333837.4_Missense_Mutation_p.L113F|NELL2_ENST00000452445.2_Missense_Mutation_p.L90F|NELL2_ENST00000548826.1_Missense_Mutation_p.L90F|NELL2_ENST00000547172.1_5'UTR|NELL2_ENST00000395487.2_Missense_Mutation_p.L89F|NELL2_ENST00000551601.1_Missense_Mutation_p.L89F|NELL2_ENST00000437801.2_Missense_Mutation_p.L140F	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	90	Laminin G-like.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		TTAGGGTCACCAAAATAGTAA	0.368																																						ENST00000429094.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						c.(268-270)ttG>ttT		NEL-like 2 (chicken)							107.0	107.0	107.0					12																	45209834		2203	4300	6503	SO:0001583	missense	4753				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity	g.chr12:45209834C>A	D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"""nel (chicken)-like 2"""			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.270G>T	12.37:g.45209834C>A	ENSP00000390680:p.Leu90Phe					NELL2_ENST00000547172.1_5'UTR|NELL2_ENST00000551601.1_Missense_Mutation_p.L89F|NELL2_ENST00000548826.1_Missense_Mutation_p.L90F|NELL2_ENST00000549027.1_Missense_Mutation_p.L89F|NELL2_ENST00000395487.2_Missense_Mutation_p.L89F|NELL2_ENST00000333837.4_Missense_Mutation_p.L113F|NELL2_ENST00000452445.2_Missense_Mutation_p.L90F|NELL2_ENST00000437801.2_Missense_Mutation_p.L140F	p.L90F	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN		GBM - Glioblastoma multiforme(48;0.092)	3	774	-	Lung SC(27;0.192)	Lung NSC(34;0.144)	90			TSP N-terminal.		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000429094.2	37	c.270G>T	CCDS8746.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.066432	0.76187	.	.	ENSG00000184613	ENST00000395487;ENST00000429094;ENST00000551601;ENST00000452445;ENST00000549027;ENST00000333837;ENST00000437801;ENST00000543684;ENST00000552993;ENST00000553120;ENST00000548826;ENST00000548531	T;T;T;T;T;T;T;T;T;T;T	0.02525	4.26;4.26;4.26;4.26;4.26;4.26;4.26;4.26;4.26;4.26;4.26	4.94	4.94	0.65067	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.64402	D	0.000001	T	0.15262	0.0368	M	0.72894	2.215	0.58432	D	0.999999	D;D;D;D;D;D	0.71674	0.998;0.998;0.991;0.998;0.981;0.996	D;D;P;D;P;D	0.78314	0.991;0.917;0.885;0.986;0.708;0.917	T	0.00265	-1.1865	10	0.72032	D	0.01	-9.2636	18.5181	0.90942	0.0:1.0:0.0:0.0	.	113;140;89;90;90;89	B7Z2U7;B7Z9U3;F8VVB6;B3KTI3;Q99435;Q96JS2	.;.;.;.;NELL2_HUMAN;.	F	89;90;89;90;89;113;140;89;90;87;90;89	ENSP00000378866:L89F;ENSP00000390680:L90F;ENSP00000449332:L89F;ENSP00000394612:L90F;ENSP00000447927:L89F;ENSP00000327988:L113F;ENSP00000416341:L140F;ENSP00000447085:L90F;ENSP00000447384:L87F;ENSP00000448635:L90F;ENSP00000449068:L89F	ENSP00000327988:L113F	L	-	3	2	NELL2	43496101	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	1.998000	0.40796	2.448000	0.82819	0.591000	0.81541	TTG		0.368	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404180.1	NM_006159		21	71	1	0	3.62473e-10	1	3.82991e-10	21	71				
PRAMEF11	440560	broad.mit.edu	37	1	12887686	12887686	+	Silent	SNP	T	T	C	rs59802947	byFrequency	TCGA-ZG-A9LY-01A-11D-A41K-08	TCGA-ZG-A9LY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1f1c7e-8d3b-4323-a37d-767b65089dbf	5c2da700-8b1e-4ca3-8960-f8f0028ca0d8	g.chr1:12887686T>C	ENST00000535591.1	-	3	366	c.171A>G	c.(169-171)agA>agG	p.R57R		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	57					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.R57R(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GAAGTTTCCATCTCCTGTGGG	0.468													.|||	5	0.000998403	0.0008	0.0	5008	,	,		21622	0.001		0.0	False		,,,				2504	0.0031					ENST00000535591.1																			1	Substitution - coding silent(1)	p.R57R(1)	endometrium(1)	NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						c.(169-171)agA>agG		PRAME family member 11																																				SO:0001819	synonymous_variant	440560							g.chr1:12887686T>C	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.171A>G	1.37:g.12887686T>C							p.R57R	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN			3	366	-			57						Silent	SNP	ENST00000535591.1	37	c.171A>G	CCDS53268.1																																																																																				0.468	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		6	174	0	0	0	1	0	6	174				
TROVE2	6738	broad.mit.edu	37	1	193038185	193038185	+	Start_Codon_SNP	SNP	A	A	T			TCGA-ZG-A9LY-01A-11D-A41K-08	TCGA-ZG-A9LY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1f1c7e-8d3b-4323-a37d-767b65089dbf	5c2da700-8b1e-4ca3-8960-f8f0028ca0d8	g.chr1:193038185A>T	ENST00000367446.3	+	2	211	c.1A>T	c.(1-3)Atg>Ttg	p.M1L	TROVE2_ENST00000367441.1_Start_Codon_SNP_p.M1L|TROVE2_ENST00000400968.2_Start_Codon_SNP_p.M1L|TROVE2_ENST00000367444.3_Start_Codon_SNP_p.M1L|TROVE2_ENST00000367445.3_Start_Codon_SNP_p.M1L|TROVE2_ENST00000432079.1_Intron|TROVE2_ENST00000416058.2_De_novo_Start_InFrame|TROVE2_ENST00000367443.1_Start_Codon_SNP_p.M1L|TROVE2_ENST00000460715.2_Intron	NM_004600.5	NP_004591.2	P10155	RO60_HUMAN	TROVE domain family, member 2	1					cilium morphogenesis (GO:0060271)|immune system development (GO:0002520)|response to UV (GO:0009411)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|RNA binding (GO:0003723)|U2 snRNA binding (GO:0030620)			biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						ACAAAAAAAAATGGAGGAATC	0.353																																						ENST00000416058.2																			0				biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21								TROVE domain family, member 2							60.0	56.0	57.0					1																	193038185		1844	4090	5934	SO:0001582	initiator_codon_variant	6738				transcription from RNA polymerase III promoter	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|RNA binding	g.chr1:193038185A>T	BC036658	CCDS41449.1, CCDS1379.1, CCDS41450.1, CCDS41450.2, CCDS53451.1	1q31	2014-08-06	2005-06-14	2005-06-14	ENSG00000116747	ENSG00000116747			11313	protein-coding gene	gene with protein product		600063	"""Sjogren syndrome antigen A2 (60kDa, ribonucleoprotein autoantigen SS-A/Ro)"""	SSA2		8188321	Standard	NM_001042369		Approved	Ro60	uc001gss.3	P10155	OTTHUMG00000035675	ENST00000367446.3:c.1A>T	1.37:g.193038185A>T	ENSP00000356416:p.Met1Leu					TROVE2_ENST00000367441.1_Start_Codon_SNP_p.M1L|TROVE2_ENST00000367443.1_Start_Codon_SNP_p.M1L|TROVE2_ENST00000367444.3_Start_Codon_SNP_p.M1L|TROVE2_ENST00000460715.2_Intron|TROVE2_ENST00000432079.1_Intron|TROVE2_ENST00000367446.3_Start_Codon_SNP_p.M1L|TROVE2_ENST00000400968.2_Start_Codon_SNP_p.M1L|TROVE2_ENST00000367445.3_Start_Codon_SNP_p.M1L				P10155	RO60_HUMAN			0	371	+								B2RBB9|Q5LJ98|Q5LJ99|Q5LJA0|Q86WL3|Q86WL4|Q92787|Q9H1W6	Translation_Start_Site	SNP	ENST00000367446.3	37		CCDS1379.1	.	.	.	.	.	.	.	.	.	.	A	19.19	3.779016	0.70107	.	.	ENSG00000116747	ENST00000400968;ENST00000415442;ENST00000506303;ENST00000367446;ENST00000367443;ENST00000367445;ENST00000367444;ENST00000367441	.	.	.	5.05	5.05	0.67936	.	0.131843	0.64402	D	0.000004	T	0.63141	0.2486	.	.	.	0.80722	D	1	P;P;P;P	0.35745	0.518;0.518;0.518;0.518	P;P;P;P	0.44647	0.456;0.456;0.456;0.456	T	0.60367	-0.7277	8	0.27785	T	0.31	-0.2502	15.0947	0.72223	1.0:0.0:0.0:0.0	.	1;1;1;1	Q5LJ99;Q5LJ98;Q5LJA0;P10155	.;.;.;RO60_HUMAN	L	1	.	ENSP00000356411:M1L	M	+	1	0	TROVE2	191304808	1.000000	0.71417	0.964000	0.40570	0.741000	0.42261	6.600000	0.74132	2.038000	0.60285	0.455000	0.32223	ATG		0.353	TROVE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086688.1	NM_004600	Missense_Mutation	6	25	0	0	0	1	0	6	25				
HADHB	3032	broad.mit.edu	37	2	26492860	26492860	+	Silent	SNP	G	G	A			TCGA-ZG-A9LY-01A-11D-A41K-08	TCGA-ZG-A9LY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1f1c7e-8d3b-4323-a37d-767b65089dbf	5c2da700-8b1e-4ca3-8960-f8f0028ca0d8	g.chr2:26492860G>A	ENST00000317799.5	+	5	353	c.249G>A	c.(247-249)gcG>gcA	p.A83A	HADHB_ENST00000537713.1_Intron|HADHB_ENST00000494615.1_3'UTR|HADHB_ENST00000545822.1_Silent_p.A61A|HADHB_ENST00000405867.3_Silent_p.A83A	NM_000183.2	NP_000174.1	P55084	ECHB_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit	83					cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrial envelope (GO:0005740)|mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acyltransferase activity (GO:0003988)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTAGAGCAGCGCTTACGTAAG	0.343																																						ENST00000317799.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1)	19						c.(247-249)gcG>gcA		hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit							135.0	132.0	133.0					2																	26492860		2203	4300	6503	SO:0001819	synonymous_variant	3032				fatty acid beta-oxidation	mitochondrial nucleoid	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding	g.chr2:26492860G>A		CCDS1722.1, CCDS62871.1, CCDS62872.1	2p23	2010-04-30	2010-04-30		ENSG00000138029	ENSG00000138029	2.3.1.16		4803	protein-coding gene	gene with protein product	"""mitochondrial trifunctional protein, beta subunit"""	143450	"""hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), beta subunit"""			9605857	Standard	NM_000183		Approved	MTPB	uc002rgz.3	P55084	OTTHUMG00000096978	ENST00000317799.5:c.249G>A	2.37:g.26492860G>A						HADHB_ENST00000545822.1_Silent_p.A61A|HADHB_ENST00000537713.1_Intron|HADHB_ENST00000405867.3_Silent_p.A83A|HADHB_ENST00000494615.1_3'UTR	p.A83A	NM_000183.2	NP_000174.1	P55084	ECHB_HUMAN			5	353	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		83					B2RB16|B4E2W0|O14969|Q53TA6|Q96C77|Q9H3F5|Q9T2V8	Silent	SNP	ENST00000317799.5	37	c.249G>A	CCDS1722.1																																																																																				0.343	HADHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214050.2	NM_000183		9	64	0	0	0	1	0	9	64				
HEPHL1	341208	broad.mit.edu	37	11	93800893	93800893	+	Missense_Mutation	SNP	G	G	T			TCGA-ZG-A9LY-01A-11D-A41K-08	TCGA-ZG-A9LY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1f1c7e-8d3b-4323-a37d-767b65089dbf	5c2da700-8b1e-4ca3-8960-f8f0028ca0d8	g.chr11:93800893G>T	ENST00000315765.9	+	5	1048	c.1040G>T	c.(1039-1041)tGc>tTc	p.C347F		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	347	Plastocyanin-like 2.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				ATGATAACCTGCCAGGTCAGC	0.468																																						ENST00000315765.9																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61						c.(1039-1041)tGc>tTc		hephaestin-like 1							80.0	78.0	79.0					11																	93800893		1938	4142	6080	SO:0001583	missense	341208				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	g.chr11:93800893G>T	BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.1040G>T	11.37:g.93800893G>T	ENSP00000313699:p.Cys347Phe						p.C347F	NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN			5	1048	+		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)	347			Plastocyanin-like 2.		Q3C1W7	Missense_Mutation	SNP	ENST00000315765.9	37	c.1040G>T	CCDS44710.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.585999	0.86748	.	.	ENSG00000181333	ENST00000315765	D	0.99928	-8.07	5.63	5.63	0.86233	Cupredoxin (2);Multicopper oxidase, type 2 (1);	0.000000	0.85682	D	0.000000	D	0.99939	0.9973	M	0.93898	3.47	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96282	0.9207	10	0.87932	D	0	.	20.0572	0.97657	0.0:0.0:1.0:0.0	.	347	Q6MZM0	HPHL1_HUMAN	F	347	ENSP00000313699:C347F	ENSP00000313699:C347F	C	+	2	0	HEPHL1	93440541	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.498000	0.97972	2.826000	0.97356	0.655000	0.94253	TGC		0.468	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947		10	31	1	0	2.74318e-10	1	2.95419e-10	10	31				
BRPF1	7862	broad.mit.edu	37	3	9782470	9782470	+	Frame_Shift_Del	DEL	A	A	-			TCGA-ZG-A9LY-01A-11D-A41K-08	TCGA-ZG-A9LY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1f1c7e-8d3b-4323-a37d-767b65089dbf	5c2da700-8b1e-4ca3-8960-f8f0028ca0d8	g.chr3:9782470delA	ENST00000457855.1	+	3	1578	c.1567delA	c.(1567-1569)aaafs	p.K523fs	BRPF1_ENST00000302054.3_Frame_Shift_Del_p.K523fs|BRPF1_ENST00000383829.2_Frame_Shift_Del_p.K523fs|BRPF1_ENST00000424362.1_Frame_Shift_Del_p.K523fs|BRPF1_ENST00000433861.2_Frame_Shift_Del_p.K523fs			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	523	Interaction with MEAF6 and ING5.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					CAGGCTTAGTAAAATCACCAA	0.522																																						ENST00000383829.2																			0				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						c.(1567-1569)aafs		bromodomain and PHD finger containing, 1							80.0	76.0	78.0					3																	9782470		2203	4300	6503	SO:0001589	frameshift_variant	7862				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding	g.chr3:9782470delA	M91585	CCDS2575.1, CCDS33692.1	3p26-p25	2008-07-18			ENSG00000156983	ENSG00000156983			14255	protein-coding gene	gene with protein product	"""peregrin"", ""bromodomain-containing protein, 140kD"""	602410				8946209, 7906940	Standard	NM_001003694		Approved	BR140	uc003bsf.3	P55201	OTTHUMG00000097033	ENST00000457855.1:c.1567delA	3.37:g.9782470delA	ENSP00000410210:p.Lys523fs					BRPF1_ENST00000457855.1_Frame_Shift_Del_p.K523fs|BRPF1_ENST00000433861.2_Frame_Shift_Del_p.K523fs|BRPF1_ENST00000424362.1_Frame_Shift_Del_p.K523fs|BRPF1_ENST00000302054.3_Frame_Shift_Del_p.K523fs	p.K523fs	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN			4	1971	+	Medulloblastoma(99;0.227)		523			Interaction with MEAF6 and ING5.		B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Frame_Shift_Del	DEL	ENST00000457855.1	37	c.1567delA	CCDS2575.1																																																																																				0.522	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338485.1	NM_001003694		16	67						16	67	---	---	---	---
KCNN2	3781	broad.mit.edu	37	5	113698631	113698632	+	In_Frame_Ins	INS	-	-	GCC	rs151038013|rs111266015|rs76852708|rs34641516		TCGA-ZG-A9LY-01A-11D-A41K-08	TCGA-ZG-A9LY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1f1c7e-8d3b-4323-a37d-767b65089dbf	5c2da700-8b1e-4ca3-8960-f8f0028ca0d8	g.chr5:113698631_113698632insGCC	ENST00000512097.3	+	2	1177_1178	c.159_160insGCC	c.(160-162)gcc>GCCgcc	p.54_54A>AA	KCNN2_ENST00000264773.3_In_Frame_Ins_p.54_54A>AA			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	54	Poly-Ala.				potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transport (GO:1901379)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|protein homodimerization activity (GO:0042803)|small conductance calcium-activated potassium channel activity (GO:0016286)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	Miconazole(DB01110)|Procaine(DB00721)	CTGCAGCCGCTGCCGCCGCCGC	0.703																																						ENST00000512097.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(157-162)gcccgc>gcGCCccgc		potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2				1003,2377		300,403,987						-5.9	0.0		dbSNP_126	7	2590,4184		804,982,1601	no	coding	KCNN2	NM_021614.2		1104,1385,2588	A1A1,A1R,RR		38.2344,29.6746,35.3851				3593,6561				SO:0001652	inframe_insertion	3781					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity	g.chr5:113698631_113698632insGCC	AF239613	CCDS4114.1, CCDS43352.1	5q22.3	2012-07-05			ENSG00000080709	ENSG00000080709		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6291	protein-coding gene	gene with protein product		605879				16382103	Standard	NM_001278204		Approved	KCa2.2, hSK2	uc003kqo.3	Q9H2S1	OTTHUMG00000128836	ENST00000512097.3:c.169_171dupGCC	5.37:g.113698638_113698640dupGCC	ENSP00000427120:p.Ala58dup					KCNN2_ENST00000264773.3_In_Frame_Ins_p.53_54AR>APR	p.53_54AR>APR			Q9H2S1	KCNN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	2	1177_1178	+		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)	53			Poly-Ala.		A6NF94|Q0VFZ4|Q6PJI0|Q6X2Y2	In_Frame_Ins	INS	ENST00000512097.3	37	c.159_160insGCC	CCDS4114.1																																																																																				0.703	KCNN2-001	KNOWN	not_organism_supported|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250775.2	NM_021614		5	7						5	7	---	---	---	---
FLT1	2321	broad.mit.edu	37	13	29068965	29068965	+	Frame_Shift_Del	DEL	C	C	-	rs200728664	byFrequency	TCGA-ZG-A9LY-01A-11D-A41K-08	TCGA-ZG-A9LY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1f1c7e-8d3b-4323-a37d-767b65089dbf	5c2da700-8b1e-4ca3-8960-f8f0028ca0d8	g.chr13:29068965delC	ENST00000282397.4	-	1	267	c.16delG	c.(16-18)gacfs	p.D6fs	FLT1_ENST00000541932.1_Frame_Shift_Del_p.D6fs|FLT1_ENST00000539099.1_Frame_Shift_Del_p.D6fs	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	6					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)	ACCCCGGTGTCCCAGTAGCTG	0.751																																						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.(16-18)acfs		fms-related tyrosine kinase 1	Sunitinib(DB01268)						10.0	12.0	12.0					13																	29068965		2161	4217	6378	SO:0001589	frameshift_variant	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.chr13:29068965delC	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.16delG	13.37:g.29068965delC	ENSP00000282397:p.Asp6fs					FLT1_ENST00000539099.1_Frame_Shift_Del_p.D6fs|FLT1_ENST00000541932.1_Frame_Shift_Del_p.D6fs	p.D6fs	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)	1	267	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	6					A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Frame_Shift_Del	DEL	ENST00000282397.4	37	c.16delG	CCDS9330.1																																																																																				0.751	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1			2	4						2	4	---	---	---	---
CHRNA3	1136	broad.mit.edu	37	15	78913068	78913070	+	In_Frame_Del	DEL	CAG	CAG	-	rs60706203|rs66793222|rs143833222		TCGA-ZG-A9LY-01A-11D-A41K-08	TCGA-ZG-A9LY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1f1c7e-8d3b-4323-a37d-767b65089dbf	5c2da700-8b1e-4ca3-8960-f8f0028ca0d8	g.chr15:78913068_78913070delCAG	ENST00000326828.5	-	1	451_453	c.67_69delCTG	c.(67-69)ctgdel	p.L23del	CHRNA3_ENST00000348639.3_In_Frame_Del_p.L23del|CHRNA3_ENST00000559941.1_5'Flank	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3 (neuronal)	23			Missing. {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:8906617, ECO:0000269|PubMed:9009220, ECO:0000269|PubMed:9921897}.		activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of dendrite morphogenesis (GO:0048814)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of membrane potential (GO:0042391)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18					Bupropion(DB01156)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)|Varenicline(DB01273)	gcagcagagacagcagcagcagc	0.768																																						ENST00000326828.5																			0				central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(67-69)del		cholinergic receptor, nicotinic, alpha 3 (neuronal)																																				SO:0001651	inframe_deletion	0				activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr15:78913068_78913070delCAG		CCDS10305.1, CCDS53964.1	15q24	2012-02-11	2012-02-07		ENSG00000080644	ENSG00000080644		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1957	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 3 (neuronal)"""	118503	"""cholinergic receptor, nicotinic, alpha polypeptide 3"""			2004777	Standard	NM_000743		Approved		uc002bec.3	P32297	OTTHUMG00000143863	ENST00000326828.5:c.67_69delCTG	15.37:g.78913077_78913079delCAG	ENSP00000315602:p.Leu23del					CHRNA3_ENST00000348639.3_In_Frame_Del_p.L23del	p.L23del	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN			1	451_453	-			23		Missing.			Q15823|Q4KMN8|Q86U77|Q96RH3|Q99553|Q9BQ93|Q9BRR4	In_Frame_Del	DEL	ENST00000326828.5	37	c.67_69delCTG	CCDS10305.1																																																																																				0.768	CHRNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290111.3			2	4						2	4	---	---	---	---
CDC27	996	broad.mit.edu	37	17	45219612	45219612	+	Frame_Shift_Del	DEL	A	A	-			TCGA-ZG-A9LY-01A-11D-A41K-08	TCGA-ZG-A9LY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1f1c7e-8d3b-4323-a37d-767b65089dbf	5c2da700-8b1e-4ca3-8960-f8f0028ca0d8	g.chr17:45219612delA	ENST00000066544.3	-	11	1454	c.1361delT	c.(1360-1362)ctafs	p.L454fs	CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs|CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	454					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TGCTTTTTGTAGATTAAAGGC	0.308																																						ENST00000066544.3																			0				NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						c.(1360-1362)cafs		cell division cycle 27							30.0	30.0	30.0					17																	45219612		2201	4295	6496	SO:0001589	frameshift_variant	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45219612delA	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.1361delT	17.37:g.45219612delA	ENSP00000066544:p.Leu454fs					CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs|CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs	p.L454fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN			11	1454	-			454					G3V1C4|Q16349|Q96F35	Frame_Shift_Del	DEL	ENST00000066544.3	37	c.1361delT	CCDS11509.1																																																																																				0.308	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			7	35						7	35	---	---	---	---
