#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
VIPAS39	63894	broad.mit.edu	37	14	77908979	77908979	+	Nonsense_Mutation	SNP	G	G	A	rs200370925		TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr14:77908979G>A	ENST00000553888.1	-	10	1168	c.658C>T	c.(658-660)Cga>Tga	p.R220*	VIPAS39_ENST00000343765.2_Nonsense_Mutation_p.R220*|VIPAS39_ENST00000448935.2_Nonsense_Mutation_p.R171*|VIPAS39_ENST00000556412.1_Nonsense_Mutation_p.R246*|VIPAS39_ENST00000327028.4_Nonsense_Mutation_p.R207*|VIPAS39_ENST00000557658.1_Nonsense_Mutation_p.R220*	NM_001193314.1|NM_001193317.1|NM_022067.3	NP_001180243.1|NP_001180246.1|NP_071350.2	Q9H9C1	SPE39_HUMAN	VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog	220					cell differentiation (GO:0030154)|endosome to lysosome transport (GO:0008333)|intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|late endosome (GO:0005770)|recycling endosome (GO:0055037)											GCAACCTGTCGCACCTCCAGC	0.433																																						ENST00000553888.1																			0											c.(658-660)Cga>Tga		VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog							130.0	134.0	133.0					14																	77908979		2203	4300	6503	SO:0001587	stop_gained	63894							g.chr14:77908979G>A	AK022925	CCDS9862.1, CCDS53905.1	14q24.3-q31	2013-08-14	2012-07-24	2012-07-24	ENSG00000151445	ENSG00000151445			20347	protein-coding gene	gene with protein product	"""VPS33B interacting protein, apical-basolateral polarity regulator"""	613401	"""chromosome 14 open reading frame 133"""	C14orf133		20190753, 19109425, 22753090, 23002115, 23918659	Standard	NM_022067		Approved	VIPAR, VPS16B, SPE-39, SPE39, hSPE-39	uc001xtu.2	Q9H9C1		ENST00000553888.1:c.658C>T	14.37:g.77908979G>A	ENSP00000452181:p.Arg220*					VIPAS39_ENST00000448935.2_Nonsense_Mutation_p.R171*|VIPAS39_ENST00000343765.2_Nonsense_Mutation_p.R220*|VIPAS39_ENST00000557658.1_Nonsense_Mutation_p.R220*|VIPAS39_ENST00000327028.4_Nonsense_Mutation_p.R207*|VIPAS39_ENST00000556412.1_Nonsense_Mutation_p.R246*	p.R220*	NM_001193314.1|NM_001193317.1|NM_022067.3	NP_001180243.1|NP_001180246.1|NP_071350.2					10	1168	-								B4DPI6|O95434|Q9H7E1|Q9H9I9	Nonsense_Mutation	SNP	ENST00000553888.1	37	c.658C>T	CCDS9862.1	.	.	.	.	.	.	.	.	.	.	G	33	5.251579	0.95305	.	.	ENSG00000151445	ENST00000343765;ENST00000553888;ENST00000327028;ENST00000557658;ENST00000448935;ENST00000556412	.	.	.	4.7	3.77	0.43336	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.8044	13.7681	0.63008	0.0:0.0:0.8457:0.1543	.	.	.	.	X	220;220;207;220;171;246	.	ENSP00000313098:R207X	R	-	1	2	VIPAR	76978732	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.292000	0.65673	2.146000	0.66826	0.655000	0.94253	CGA		0.433	VIPAS39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414008.1	NM_022067		65	77	0	0	0	1	0	65	77				
EIF4A1	1973	broad.mit.edu	37	17	7480916	7480916	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr17:7480916G>C	ENST00000293831.8	+	8	814	c.798G>C	c.(796-798)ttG>ttC	p.L266F	SNORA48_ENST00000386847.1_RNA|SENP3-EIF4A1_ENST00000579777.1_RNA|EIF4A1_ENST00000582746.1_Missense_Mutation_p.L266F|CD68_ENST00000250092.6_5'Flank|SNORD10_ENST00000459579.1_RNA|EIF4A1_ENST00000577269.1_Missense_Mutation_p.L266F|CD68_ENST00000380498.6_5'Flank|SNORA67_ENST00000384423.1_RNA	NM_001416.3	NP_001407.1	P60842	IF4A1_HUMAN	eukaryotic translation initiation factor 4A1	266	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						TATGTGACTTGTATGAAACCC	0.532																																					Melanoma(120;278 1668 15796 27423 46368)	ENST00000293831.8																			0				NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						c.(796-798)ttG>ttC		eukaryotic translation initiation factor 4A1							103.0	92.0	96.0					17																	7480916		2203	4300	6503	SO:0001583	missense	1973				nuclear-transcribed mRNA poly(A) tail shortening	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA cap binding|translation initiation factor activity	g.chr17:7480916G>C	D13748	CCDS11113.1, CCDS58511.1	17p13	2012-02-23	2010-02-10		ENSG00000161960	ENSG00000161960		"""DEAD-boxes"""	3282	protein-coding gene	gene with protein product		602641	"""eukaryotic translation initiation factor 4A, isoform 1"""	EIF4A		8493113, 9790779	Standard	NM_001416		Approved	DDX2A, EIF-4A		P60842	OTTHUMG00000108149	ENST00000293831.8:c.798G>C	17.37:g.7480916G>C	ENSP00000293831:p.Leu266Phe					EIF4A1_ENST00000577269.1_Missense_Mutation_p.L266F|EIF4A1_ENST00000582746.1_Missense_Mutation_p.L266F|SENP3-EIF4A1_ENST00000579777.1_RNA	p.L266F	NM_001416.3	NP_001407.1	P60842	IF4A1_HUMAN			8	814	+			266			Helicase C-terminal.		B2R6L8|D3DTP9|J3QLC4|P04765|Q5U018|Q61516	Missense_Mutation	SNP	ENST00000293831.8	37	c.798G>C	CCDS11113.1	.	.	.	.	.	.	.	.	.	.	G	11.95	1.792792	0.31685	.	.	ENSG00000161960	ENST00000293831;ENST00000396527	T	0.06142	3.34	5.35	-0.459	0.12179	Helicase, C-terminal (1);	0.065887	0.64402	N	0.000012	T	0.16257	0.0391	M	0.72479	2.2	0.80722	D	1	D;D;D	0.89917	0.997;0.995;1.0	D;D;D	0.73708	0.958;0.958;0.981	T	0.01298	-1.1392	10	0.87932	D	0	-19.8081	4.7976	0.13279	0.3425:0.0:0.5197:0.1378	.	266;266;266	A8K7F6;A8K088;P60842	.;.;IF4A1_HUMAN	F	266;89	ENSP00000293831:L266F	ENSP00000293831:L266F	L	+	3	2	EIF4A1	7421640	1.000000	0.71417	0.991000	0.47740	0.990000	0.78478	1.257000	0.32932	-0.296000	0.08947	0.561000	0.74099	TTG		0.532	EIF4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226952.6	NM_001416		59	11	0	0	0	1	0	59	11				
CLSPN	63967	broad.mit.edu	37	1	36226432	36226432	+	Missense_Mutation	SNP	C	C	T	rs114727604	byFrequency	TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr1:36226432C>T	ENST00000318121.3	-	8	1147	c.1090G>A	c.(1090-1092)Ggt>Agt	p.G364S	CLSPN_ENST00000520551.1_Missense_Mutation_p.G364S|CLSPN_ENST00000373220.3_Missense_Mutation_p.G364S|CLSPN_ENST00000251195.5_Missense_Mutation_p.G364S	NM_022111.3	NP_071394.2	Q9HAW4	CLSPN_HUMAN	claspin	364					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|mitotic DNA replication checkpoint (GO:0033314)|peptidyl-serine phosphorylation (GO:0018105)	nucleoplasm (GO:0005654)	anaphase-promoting complex binding (GO:0010997)|DNA binding (GO:0003677)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TGCTCAGAACCTTTACTATGG	0.388																																						ENST00000251195.5																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56						c.(1090-1092)Ggt>Agt		claspin							93.0	94.0	94.0					1																	36226432		2201	4299	6500	SO:0001583	missense	63967				activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding	g.chr1:36226432C>T	AF297866	CCDS396.1, CCDS53297.1	1p34.3	2010-06-24	2010-06-24		ENSG00000092853	ENSG00000092853			19715	protein-coding gene	gene with protein product		605434	"""claspin homolog (Xenopus laevis)"""			11090622, 12766152	Standard	NM_022111		Approved		uc001bzi.3	Q9HAW4	OTTHUMG00000004168	ENST00000318121.3:c.1090G>A	1.37:g.36226432C>T	ENSP00000312995:p.Gly364Ser					CLSPN_ENST00000520551.1_Missense_Mutation_p.G364S|CLSPN_ENST00000373220.3_Missense_Mutation_p.G364S|CLSPN_ENST00000318121.3_Missense_Mutation_p.G364S	p.G364S			Q9HAW4	CLSPN_HUMAN			8	1186	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	364					A6NFL4|Q1RMC6|Q2KHM3|Q5VYG0|Q6P6H5|Q8IWI1	Missense_Mutation	SNP	ENST00000318121.3	37	c.1090G>A	CCDS396.1	.	.	.	.	.	.	.	.	.	.	C	7.917	0.737666	0.15574	.	.	ENSG00000092853	ENST00000251195;ENST00000318121;ENST00000373220;ENST00000520551;ENST00000544356	T;T;T;T	0.25085	1.89;1.89;1.82;1.85	5.51	2.53	0.30540	.	0.908575	0.09720	N	0.764541	T	0.19927	0.0479	L	0.33485	1.01	0.09310	N	0.999996	B;B	0.22800	0.005;0.075	B;B	0.26864	0.008;0.074	T	0.33548	-0.9864	10	0.30078	T	0.28	-1.6646	7.7671	0.28986	0.0:0.6481:0.0:0.3519	.	364;364	Q9HAW4-2;Q9HAW4	.;CLSPN_HUMAN	S	364	ENSP00000251195:G364S;ENSP00000312995:G364S;ENSP00000362317:G364S;ENSP00000428848:G364S	ENSP00000251195:G364S	G	-	1	0	CLSPN	35999019	0.001000	0.12720	0.920000	0.36463	0.445000	0.32107	0.026000	0.13599	0.235000	0.21160	-0.191000	0.12829	GGT		0.388	CLSPN-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377857.1	NM_022111		35	45	0	0	0	1	0	35	45				
DOCK10	55619	broad.mit.edu	37	2	225684223	225684223	+	Silent	SNP	T	T	G			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr2:225684223T>G	ENST00000258390.7	-	29	3274	c.3207A>C	c.(3205-3207)cgA>cgC	p.R1069R	DOCK10_ENST00000409592.3_Silent_p.R1063R	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1069					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		ACACATACCCTCGGTCCATAA	0.318																																						ENST00000409592.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87						c.(3187-3189)cgA>cgC		dedicator of cytokinesis 10							113.0	107.0	109.0					2																	225684223		1841	4089	5930	SO:0001819	synonymous_variant	55619						GTP binding	g.chr2:225684223T>G	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.3207A>C	2.37:g.225684223T>G						DOCK10_ENST00000258390.7_Silent_p.R1069R	p.R1063R			Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	29	3302	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	1069					B3FL70|O75178|Q9NW06|Q9NXI8	Silent	SNP	ENST00000258390.7	37	c.3189A>C	CCDS46528.1																																																																																				0.318	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			6	83	0	0	0	1	0	6	83				
SP100	6672	broad.mit.edu	37	2	231375862	231375862	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr2:231375862A>G	ENST00000264052.5	+	24	2430	c.2075A>G	c.(2074-2076)aAt>aGt	p.N692S	SP100_ENST00000340126.4_Missense_Mutation_p.N692S	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	692					cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TCTCACAACAATACCTTAGTT	0.383																																						ENST00000264052.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25						c.(2074-2076)aAt>aGt		SP100 nuclear antigen							110.0	105.0	106.0					2																	231375862		2203	4300	6503	SO:0001583	missense	6672				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding	g.chr2:231375862A>G	AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"""Zinc fingers, PHD-type"""	11206	protein-coding gene	gene with protein product		604585	"""nuclear antigen Sp100"""			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000264052.5:c.2075A>G	2.37:g.231375862A>G	ENSP00000264052:p.Asn692Ser					SP100_ENST00000340126.4_Missense_Mutation_p.N692S	p.N692S	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)	24	2430	+		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)	692					B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Missense_Mutation	SNP	ENST00000264052.5	37	c.2075A>G	CCDS2477.1	.	.	.	.	.	.	.	.	.	.	A	12.56	1.976057	0.34848	.	.	ENSG00000067066	ENST00000264052;ENST00000340126;ENST00000414648	T;D	0.84146	2.26;-1.81	4.24	0.527	0.17084	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (2);	.	.	.	.	T	0.66963	0.2843	N	0.05124	-0.11	0.09310	N	1	B;B;B	0.34349	0.075;0.244;0.45	B;B;B	0.34180	0.01;0.063;0.177	T	0.57871	-0.7736	9	0.42905	T	0.14	.	6.1095	0.20092	0.6768:0.0:0.3232:0.0	.	162;692;692	E9PHN1;P23497-4;P23497	.;.;SP100_HUMAN	S	692;692;162	ENSP00000264052:N692S;ENSP00000343023:N692S	ENSP00000264052:N692S	N	+	2	0	SP100	231084106	0.000000	0.05858	0.000000	0.03702	0.734000	0.41952	-0.088000	0.11198	0.084000	0.17077	0.533000	0.62120	AAT		0.383	SP100-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256914.2	NM_003113		17	41	0	0	0	1	0	17	41				
TOP3B	8940	broad.mit.edu	37	22	22322019	22322019	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr22:22322019C>A	ENST00000398793.2	-	8	1242	c.808G>T	c.(808-810)Gca>Tca	p.A270S	TOP3B_ENST00000413067.2_5'UTR|TOP3B_ENST00000357179.5_Missense_Mutation_p.A270S	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	270					chromosome segregation (GO:0007059)|DNA topological change (GO:0006265)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase activity (GO:0003916)|DNA topoisomerase type I activity (GO:0003917)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		AACATCTGTGCGATCTCCCGG	0.507																																						ENST00000398793.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26						c.(808-810)Gca>Tca		topoisomerase (DNA) III beta							164.0	138.0	147.0					22																	22322019		2203	4300	6503	SO:0001583	missense	8940				DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding	g.chr22:22322019C>A	AF017146	CCDS13797.1	22q11.22	2011-05-24			ENSG00000100038	ENSG00000100038			11993	protein-coding gene	gene with protein product		603582				9786842, 9074928	Standard	XM_005261811		Approved		uc002zvs.3	O95985	OTTHUMG00000167438	ENST00000398793.2:c.808G>T	22.37:g.22322019C>A	ENSP00000381773:p.Ala270Ser					TOP3B_ENST00000357179.5_Missense_Mutation_p.A270S|TOP3B_ENST00000413067.2_5'UTR	p.A270S	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	8	1242	-	Colorectal(54;0.105)		270					A0M8Q3|Q9BUP5	Missense_Mutation	SNP	ENST00000398793.2	37	c.808G>T	CCDS13797.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.989605	0.93106	.	.	ENSG00000100038	ENST00000357179;ENST00000398793	T;T	0.31769	1.48;1.48	4.71	4.71	0.59529	DNA topoisomerase, type IA, core domain (1);DNA topoisomerase, type IA, central (1);	0.051089	0.85682	D	0.000000	T	0.54062	0.1835	M	0.91196	3.185	0.80722	D	1	P	0.42961	0.795	P	0.48189	0.57	T	0.64537	-0.6384	10	0.46703	T	0.11	.	17.8418	0.88717	0.0:1.0:0.0:0.0	.	270	O95985	TOP3B_HUMAN	S	270	ENSP00000349705:A270S;ENSP00000381773:A270S	ENSP00000349705:A270S	A	-	1	0	TOP3B	20652019	1.000000	0.71417	0.980000	0.43619	0.872000	0.50106	7.487000	0.81328	2.439000	0.82584	0.655000	0.94253	GCA		0.507	TOP3B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320251.1	NM_003935		32	46	1	0	1.61788e-16	1	1.70014e-16	32	46				
RASAL3	64926	broad.mit.edu	37	19	15574887	15574887	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr19:15574887T>C	ENST00000343625.7	-	2	368	c.283A>G	c.(283-285)Aac>Gac	p.N95D		NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	95					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)	Ras GTPase activator activity (GO:0005099)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						GGCGGTGGGTTCTTATGCCTC	0.672																																						ENST00000343625.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						c.(283-285)Aac>Gac		RAS protein activator like 3							16.0	18.0	18.0					19																	15574887		1982	4162	6144	SO:0001583	missense	64926				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	g.chr19:15574887T>C		CCDS46006.1	19p13.12	2008-12-18			ENSG00000105122	ENSG00000105122			26129	protein-coding gene	gene with protein product						12477932	Standard	NM_022904		Approved	FLJ21438	uc002nbe.2	Q86YV0		ENST00000343625.7:c.283A>G	19.37:g.15574887T>C	ENSP00000341905:p.Asn95Asp						p.N95D	NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN			2	363	-			95					Q8N2T9|Q9H735	Missense_Mutation	SNP	ENST00000343625.7	37	c.283A>G	CCDS46006.1	.	.	.	.	.	.	.	.	.	.	T	10.66	1.411955	0.25465	.	.	ENSG00000105122	ENST00000343625	T	0.25085	1.82	4.08	4.08	0.47627	.	0.936381	0.08645	U	0.914874	T	0.17365	0.0417	N	0.22421	0.69	0.21579	N	0.999633	B	0.19817	0.039	B	0.19946	0.027	T	0.21930	-1.0231	10	0.11794	T	0.64	.	10.0175	0.42022	0.0:0.0:0.0:1.0	.	95	Q86YV0	RASL3_HUMAN	D	95	ENSP00000341905:N95D	ENSP00000341905:N95D	N	-	1	0	RASAL3	15435887	0.997000	0.39634	0.743000	0.31040	0.414000	0.31173	2.118000	0.41949	1.805000	0.52779	0.260000	0.18958	AAC		0.672	RASAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461331.3	NM_022904		7	19	0	0	0	1	0	7	19				
DOCK4	9732	broad.mit.edu	37	7	111503618	111503618	+	Silent	SNP	A	A	T			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr7:111503618A>T	ENST00000437633.1	-	23	2539	c.2283T>A	c.(2281-2283)gcT>gcA	p.A761A	DOCK4_ENST00000428084.1_Silent_p.A761A|DOCK4_ENST00000476846.1_5'UTR	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	761					cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TCAGAAACACAGCCTTAAAAA	0.468																																						ENST00000428084.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72						c.(2281-2283)gcT>gcA		dedicator of cytokinesis 4							33.0	32.0	32.0					7																	111503618		1898	4111	6009	SO:0001819	synonymous_variant	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111503618A>T		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.2283T>A	7.37:g.111503618A>T						DOCK4_ENST00000437633.1_Silent_p.A761A|DOCK4_ENST00000476846.1_5'UTR	p.A761A			Q8N1I0	DOCK4_HUMAN			23	2555	-		Acute lymphoblastic leukemia(1;0.0441)	761					O14584|O94824|Q8NB45	Silent	SNP	ENST00000437633.1	37	c.2283T>A	CCDS47688.1	.	.	.	.	.	.	.	.	.	.	A	12.42	1.931808	0.34096	.	.	ENSG00000128512	ENST00000423057;ENST00000445943	.	.	.	5.23	0.208	0.15221	.	.	.	.	.	T	0.41766	0.1173	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.22068	-1.0227	4	.	.	.	.	1.4499	0.02372	0.498:0.1348:0.237:0.1301	.	.	.	.	Q	213;749	.	.	L	-	2	0	DOCK4	111290854	0.997000	0.39634	0.995000	0.50966	0.933000	0.57130	0.775000	0.26689	-0.105000	0.12132	-0.490000	0.04691	CTG		0.468	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		6	12	0	0	0	1	0	6	12				
PTX3	5806	broad.mit.edu	37	3	157154782	157154782	+	Silent	SNP	G	G	A			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr3:157154782G>A	ENST00000295927.3	+	1	205	c.60G>A	c.(58-60)tcG>tcA	p.S20S	VEPH1_ENST00000392833.2_Intron|VEPH1_ENST00000543418.1_Intron|VEPH1_ENST00000362010.2_Intron|VEPH1_ENST00000392832.2_Intron	NM_002852.3	NP_002843.2	P26022	PTX3_HUMAN	pentraxin 3, long	20					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of exo-alpha-sialidase activity (GO:1903016)|negative regulation of glycoprotein metabolic process (GO:1903019)|negative regulation of viral entry into host cell (GO:0046597)|opsonization (GO:0008228)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phagocytosis (GO:0050766)|response to yeast (GO:0001878)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	(1->3)-beta-D-glucan binding (GO:0001872)|complement component C1q binding (GO:0001849)|virion binding (GO:0046790)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)	10			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			CCGAGAACTCGGATGATTATG	0.468																																						ENST00000295927.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)	10						c.(58-60)tcG>tcA		pentraxin 3, long							233.0	210.0	218.0					3																	157154782		2203	4300	6503	SO:0001819	synonymous_variant	5806				inflammatory response	extracellular region		g.chr3:157154782G>A	X63613	CCDS3180.1	3q25	2010-03-11	2010-03-11		ENSG00000163661	ENSG00000163661			9692	protein-coding gene	gene with protein product		602492	"""pentaxin-related gene, rapidly induced by IL-1 beta"", ""tumor necrosis factor, alpha-induced protein 5"", ""pentraxin-related gene, rapidly induced by IL-1 beta"""	TNFAIP5		1429570	Standard	NM_002852		Approved	TSG-14	uc003fbl.4	P26022	OTTHUMG00000158750	ENST00000295927.3:c.60G>A	3.37:g.157154782G>A						VEPH1_ENST00000392832.2_Intron|VEPH1_ENST00000392833.2_Intron|VEPH1_ENST00000362010.2_Intron|VEPH1_ENST00000543418.1_Intron	p.S20S	NM_002852.3	NP_002843.2	P26022	PTX3_HUMAN	Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)		1	205	+			20					B2R6T6|Q38M82	Silent	SNP	ENST00000295927.3	37	c.60G>A	CCDS3180.1																																																																																				0.468	PTX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352028.1	NM_002852		64	60	0	0	0	1	0	64	60				
SPTBN4	57731	broad.mit.edu	37	19	40996148	40996148	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr19:40996148G>A	ENST00000352632.3	+	4	574	c.488G>A	c.(487-489)cGc>cAc	p.R163H	SPTBN4_ENST00000598249.1_Missense_Mutation_p.R163H|SPTBN4_ENST00000338932.3_Missense_Mutation_p.R163H|SPTBN4_ENST00000344104.3_Missense_Mutation_p.R163H|SPTBN4_ENST00000595535.1_Missense_Mutation_p.R163H			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	163	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ATCATCCTGCGCTTCCAGGTG	0.577																																						ENST00000352632.3																			0				breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73						c.(487-489)cGc>cAc		spectrin, beta, non-erythrocytic 4							89.0	75.0	80.0					19																	40996148		2203	4300	6503	SO:0001583	missense	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:40996148G>A	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.488G>A	19.37:g.40996148G>A	ENSP00000263373:p.Arg163His					SPTBN4_ENST00000344104.3_Missense_Mutation_p.R163H|SPTBN4_ENST00000338932.3_Missense_Mutation_p.R163H|SPTBN4_ENST00000595535.1_Missense_Mutation_p.R163H|SPTBN4_ENST00000598249.1_Missense_Mutation_p.R163H	p.R163H			Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		4	574	+			163			Actin-binding.|CH 1.		E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	ENST00000352632.3	37	c.488G>A	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	G	35	5.550183	0.96501	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000344104	T;T;T	0.59364	0.27;0.27;0.27	4.76	4.76	0.60689	Calponin homology domain (5);	0.000000	0.64402	U	0.000014	T	0.69015	0.3064	L	0.41573	1.285	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.72475	-0.4282	10	0.87932	D	0	.	16.6882	0.85315	0.0:0.0:1.0:0.0	.	163;163	Q9H254;Q71S06	SPTN4_HUMAN;.	H	163	ENSP00000263373:R163H;ENSP00000340345:R163H;ENSP00000340741:R163H	ENSP00000340345:R163H	R	+	2	0	SPTBN4	45687988	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	9.586000	0.98226	2.459000	0.83118	0.579000	0.79373	CGC		0.577	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			18	20	0	0	0	1	0	18	20				
CCDC84	338657	broad.mit.edu	37	11	118868962	118868962	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr11:118868962G>C	ENST00000334418.1	+	1	111	c.55G>C	c.(55-57)Ggg>Cgg	p.G19R	RP11-110I1.12_ENST00000526453.1_lincRNA	NM_198489.1	NP_940891.1	Q86UT8	CCD84_HUMAN	coiled-coil domain containing 84	19										breast(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)		CTGTGGTCGCGGGCACGTTTA	0.672																																						ENST00000334418.1																			0				breast(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1)	5						c.(55-57)Ggg>Cgg		coiled-coil domain containing 84							13.0	15.0	14.0					11																	118868962		2189	4288	6477	SO:0001583	missense	338657							g.chr11:118868962G>C	AB094093	CCDS8405.1	11q23.3	2006-03-13			ENSG00000186166	ENSG00000186166			30460	protein-coding gene	gene with protein product							Standard	NM_198489		Approved	DLNB14	uc001pul.3	Q86UT8	OTTHUMG00000166348	ENST00000334418.1:c.55G>C	11.37:g.118868962G>C	ENSP00000334767:p.Gly19Arg						p.G19R	NM_198489.1	NP_940891.1	Q86UT8	CCD84_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)	1	111	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)	19						Missense_Mutation	SNP	ENST00000334418.1	37	c.55G>C	CCDS8405.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.532204	0.85812	.	.	ENSG00000186166	ENST00000334418	T	0.38560	1.13	5.12	5.12	0.69794	.	0.294875	0.38381	N	0.001706	T	0.39708	0.1088	N	0.16790	0.44	0.42529	D	0.993034	D	0.69078	0.997	D	0.69307	0.963	T	0.16689	-1.0394	10	0.08381	T	0.77	-17.057	9.5345	0.39213	0.0928:0.0:0.9072:0.0	.	19	Q86UT8	CCD84_HUMAN	R	19	ENSP00000334767:G19R	ENSP00000334767:G19R	G	+	1	0	CCDC84	118374172	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.196000	0.42686	2.672000	0.90937	0.650000	0.86243	GGG		0.672	CCDC84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389315.1	NM_198489		4	4	0	0	0	1	0	4	4				
DPYS	1807	broad.mit.edu	37	8	105393494	105393494	+	Missense_Mutation	SNP	C	C	T	rs368932527		TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr8:105393494C>T	ENST00000351513.2	-	9	1624	c.1492G>A	c.(1492-1494)Gcc>Acc	p.A498T	DPYS_ENST00000521601.1_5'UTR	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	498					beta-alanine metabolic process (GO:0019482)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|uracil catabolic process (GO:0006212)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|dihydropyrimidinase activity (GO:0004157)|thymine binding (GO:0002059)|uracil binding (GO:0002058)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TTCAGTGTGGCGACTTCTCCC	0.488																																						ENST00000351513.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1492-1494)Gcc>Acc		dihydropyrimidinase		C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	266.0	221.0	236.0		1492	-2.6	0.0	8		236	0,8600		0,0,4300	no	missense	DPYS	NM_001385.2	58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	498/520	105393494	1,13005	2203	4300	6503	SO:0001583	missense	1807				protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding	g.chr8:105393494C>T	D78011	CCDS6302.1	8q22	2004-01-22			ENSG00000147647	ENSG00000147647			3013	protein-coding gene	gene with protein product		613326				8973361	Standard	NM_001385		Approved	DHPase	uc003yly.4	Q14117	OTTHUMG00000164891	ENST00000351513.2:c.1492G>A	8.37:g.105393494C>T	ENSP00000276651:p.Ala498Thr					DPYS_ENST00000521601.1_5'UTR	p.A498T	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)		9	1624	-			498						Missense_Mutation	SNP	ENST00000351513.2	37	c.1492G>A	CCDS6302.1	.	.	.	.	.	.	.	.	.	.	C	11.21	1.570479	0.28003	2.27E-4	0.0	ENSG00000147647	ENST00000351513	D	0.97831	-4.56	5.85	-2.6	0.06190	.	1.112990	0.06573	N	0.748930	D	0.94374	0.8191	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	D	0.84688	0.0721	10	0.22706	T	0.39	-0.815	11.2061	0.48771	0.0:0.3349:0.0:0.6651	.	498	Q14117	DPYS_HUMAN	T	498	ENSP00000276651:A498T	ENSP00000276651:A498T	A	-	1	0	DPYS	105462670	0.000000	0.05858	0.000000	0.03702	0.211000	0.24417	-1.106000	0.03319	-0.963000	0.03600	-1.036000	0.02392	GCC		0.488	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380814.1	NM_001385		40	83	0	0	0	1	0	40	83				
TMEM132B	114795	broad.mit.edu	37	12	125834175	125834175	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr12:125834175G>A	ENST00000299308.3	+	2	238	c.230G>A	c.(229-231)cGa>cAa	p.R77Q	TMEM132B_ENST00000418253.2_3'UTR	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	77						integral component of membrane (GO:0016021)		p.R77Q(1)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TTCATCTACCGAGCCAGGACA	0.507																																						ENST00000299308.3																			1	Substitution - Missense(1)	p.R77Q(1)	skin(1)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107						c.(229-231)cGa>cAa		transmembrane protein 132B							103.0	105.0	105.0					12																	125834175		1878	4119	5997	SO:0001583	missense	114795					integral to membrane		g.chr12:125834175G>A	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.230G>A	12.37:g.125834175G>A	ENSP00000299308:p.Arg77Gln					TMEM132B_ENST00000418253.2_3'UTR	p.R77Q	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	2	238	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		77					A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	ENST00000299308.3	37	c.230G>A	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	G	3.987	-0.005289	0.07773	.	.	ENSG00000139364	ENST00000299308	T	0.11063	2.81	5.41	4.51	0.55191	.	.	.	.	.	T	0.03871	0.0109	N	0.12746	0.255	0.80722	D	1	B	0.33494	0.414	B	0.18263	0.021	T	0.30149	-0.9988	9	0.05721	T	0.95	.	7.8894	0.29669	0.2267:0.0:0.7733:0.0	.	77	Q14DG7	T132B_HUMAN	Q	77	ENSP00000299308:R77Q	ENSP00000299308:R77Q	R	+	2	0	TMEM132B	124400128	1.000000	0.71417	0.963000	0.40424	0.472000	0.32918	3.430000	0.52807	2.514000	0.84764	0.591000	0.81541	CGA		0.507	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		23	136	0	0	0	1	0	23	136				
MPP1	4354	broad.mit.edu	37	X	154020488	154020488	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chrX:154020488C>T	ENST00000369534.3	-	2	322	c.175G>A	c.(175-177)Gcc>Acc	p.A59T	MPP1_ENST00000413259.3_Missense_Mutation_p.A29T|MPP1_ENST00000462825.1_Intron|MPP1_ENST00000393531.1_Missense_Mutation_p.A59T	NM_001166460.1|NM_001166461.1|NM_002436.3	NP_001159932.1|NP_001159933.1|NP_002427.1	Q00013	EM55_HUMAN	membrane protein, palmitoylated 1, 55kDa	59					nucleotide phosphorylation (GO:0046939)|regulation of neutrophil chemotaxis (GO:0090022)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cortical cytoskeleton (GO:0030863)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(9)|ovary(2)|prostate(1)	21	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TTGACCTGGGCAGGGCTACCT	0.542																																						ENST00000413259.3																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(9)|ovary(2)|prostate(1)	21						c.(85-87)Gcc>Acc		membrane protein, palmitoylated 1, 55kDa							106.0	89.0	95.0					X																	154020488		2203	4300	6503	SO:0001583	missense	4354				regulation of neutrophil chemotaxis|signal transduction	integral to plasma membrane|membrane fraction|stereocilium	guanylate kinase activity|protein binding	g.chrX:154020488C>T		CCDS14762.1, CCDS55544.1, CCDS55545.1	Xq28	2008-03-04	2002-08-29		ENSG00000130830	ENSG00000130830			7219	protein-coding gene	gene with protein product		305360	"""membrane protein, palmitoylated 1 (55kD)"""	DXS552E		1713685	Standard	NM_002436		Approved	PEMP	uc004fmp.2	Q00013	OTTHUMG00000024244	ENST00000369534.3:c.175G>A	X.37:g.154020488C>T	ENSP00000358547:p.Ala59Thr					MPP1_ENST00000462825.1_Intron|MPP1_ENST00000369534.3_Missense_Mutation_p.A59T|MPP1_ENST00000393531.1_Missense_Mutation_p.A59T	p.A29T	NM_001166462.1	NP_001159934.1	Q00013	EM55_HUMAN			3	477	-	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		59					B4DZV5|G3XAI1|Q2TSB6|Q5J7V5	Missense_Mutation	SNP	ENST00000369534.3	37	c.85G>A	CCDS14762.1	.	.	.	.	.	.	.	.	.	.	C	3.361	-0.130509	0.06753	.	.	ENSG00000130830	ENST00000369534;ENST00000413259;ENST00000393531;ENST00000393529;ENST00000369531	T;T;T;T;T	0.30448	2.24;2.26;2.1;1.53;1.91	5.3	0.438	0.16560	PDZ/DHR/GLGF (1);	0.418528	0.27181	N	0.020554	T	0.16685	0.0401	L	0.36672	1.1	0.09310	N	1	B;B;B;B	0.18968	0.0;0.032;0.0;0.032	B;B;B;B	0.20184	0.001;0.028;0.001;0.017	T	0.33548	-0.9864	10	0.08381	T	0.77	.	4.6821	0.12739	0.1432:0.4281:0.0:0.4287	.	59;29;59;59	B4E325;B4DZV5;G3XAI1;Q00013	.;.;.;EM55_HUMAN	T	59;29;59;13;59	ENSP00000358547:A59T;ENSP00000400155:A29T;ENSP00000377165:A59T;ENSP00000377163:A13T;ENSP00000358544:A59T	ENSP00000358544:A59T	A	-	1	0	MPP1	153673682	0.054000	0.20591	0.022000	0.16811	0.180000	0.23129	0.416000	0.21198	-0.397000	0.07691	0.600000	0.82982	GCC		0.542	MPP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061191.3	NM_002436		7	52	0	0	0	1	0	7	52				
SLC5A5	6528	broad.mit.edu	37	19	17999206	17999206	+	Silent	SNP	C	C	T	rs121909177		TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr19:17999206C>T	ENST00000222248.3	+	13	1940	c.1593C>T	c.(1591-1593)taC>taT	p.Y531Y		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	531					cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|iodide transport (GO:0015705)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	iodide transmembrane transporter activity (GO:0015111)|sodium:iodide symporter activity (GO:0008507)			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						ATCTCTATTACGGTGCCCTGG	0.572																																					Melanoma(65;1008 1708 7910 46650)	ENST00000222248.3																			0				NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31	GRCh37	CM981847	SLC5A5	M	rs121909177	c.(1591-1593)taC>taT		solute carrier family 5 (sodium/iodide cotransporter), member 5		C		1,4405	2.1+/-5.4	0,1,2202	137.0	117.0	124.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1593	-4.1	0.9	19	dbSNP_133	124	0,8600		0,0,4300	no	coding-synonymous	SLC5A5	NM_000453.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		531/644	17999206	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6528				cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity	g.chr19:17999206C>T		CCDS12368.1	19p13.11	2013-07-19	2013-07-19		ENSG00000105641	ENSG00000105641		"""Solute carriers"""	11040	protein-coding gene	gene with protein product		601843	"""solute carrier family 5 (sodium iodide symporter), member 5"""			9231811	Standard	NM_000453		Approved	NIS	uc002nhr.4	Q92911		ENST00000222248.3:c.1593C>T	19.37:g.17999206C>T							p.Y531Y	NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN			13	1940	+			531					O43702|Q2M335|Q9NYB6	Silent	SNP	ENST00000222248.3	37	c.1593C>T	CCDS12368.1																																																																																				0.572	SLC5A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466690.1			53	78	0	0	0	1	0	53	78				
DLX4	1748	broad.mit.edu	37	17	48050406	48050406	+	Intron	SNP	G	G	A			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr17:48050406G>A	ENST00000240306.3	+	2	578				DLX4_ENST00000411890.2_Missense_Mutation_p.A13T|DLX4_ENST00000503410.1_Intron	NM_138281.2	NP_612138.1	Q92988	DLX4_HUMAN	distal-less homeobox 4						multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(3)	10						CTCCCTCCTCGCCCCCTACAC	0.632																																						ENST00000411890.2																			0				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(3)	10						c.(37-39)Gcc>Acc		distal-less homeobox 4							51.0	60.0	57.0					17																	48050406		2203	4300	6503	SO:0001627	intron_variant	0				multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:48050406G>A		CCDS11555.1, CCDS45728.1	17q21.33	2011-06-20			ENSG00000108813	ENSG00000108813		"""Homeoboxes / ANTP class : NKL subclass"""	2917	protein-coding gene	gene with protein product		601911		DLX7, DLX9			Standard	NM_138281		Approved	DLX8, BP1	uc002ipv.3	Q92988	OTTHUMG00000161839	ENST00000240306.3:c.284-31G>A	17.37:g.48050406G>A						DLX4_ENST00000503410.1_Intron|DLX4_ENST00000240306.3_Intron	p.A13T	NM_001934.3	NP_001925.2	Q92988	DLX4_HUMAN			1	277	+			80	MTSLPCPLPGRDASKAVFPDLAPVPSVAAAYPLGLSPTTAA SPNLSYSRPYGHLLSYPYTEPANPGDSYLSCQQPAALSQPL CGPAEHPQELEA -> GGSLSLPPEPLCARCPTKEGAAPRR PGFWGSLETQAATVWRGRHGHFSCRVRLSRGAARYSRRGQG KPGVTISAARLVFKVLSAGPLTHPAGRSRRLPRGHRLKPLS IALSLCLQCPSSVISRPRLSPGPSLSAPPYPKLAPPPVAEL RPPTAGAAVPWLWPSARFLPRVTGPIRVGAPLGAELRLVSP GAVNVGVETLHAE (in Ref. 9).				D3DTX2|D3DTX3|O60480|Q13265|Q6PJK0|Q9HBE0	Missense_Mutation	SNP	ENST00000240306.3	37	c.37G>A	CCDS11555.1	.	.	.	.	.	.	.	.	.	.	G	11.73	1.726506	0.30593	.	.	ENSG00000108813	ENST00000411890	D	0.92249	-3.0	2.0	-1.32	0.09201	.	.	.	.	.	D	0.83473	0.5262	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.68066	-0.5507	8	0.37606	T	0.19	.	4.402	0.11392	0.2514:0.5123:0.2363:0.0	.	13	Q92988-2	.	T	13	ENSP00000410622:A13T	ENSP00000410622:A13T	A	+	1	0	DLX4	45405405	0.000000	0.05858	0.001000	0.08648	0.021000	0.10359	-0.795000	0.04580	-0.494000	0.06669	-1.058000	0.02302	GCC		0.632	DLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366214.1			39	34	0	0	0	1	0	39	34				
BTBD2	55643	broad.mit.edu	37	19	1986928	1986928	+	Silent	SNP	G	G	A			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr19:1986928G>A	ENST00000255608.4	-	8	1333	c.1317C>T	c.(1315-1317)ggC>ggT	p.G439G	AC005306.3_ENST00000588480.1_RNA|AC005306.3_ENST00000587498.1_RNA	NM_017797.3	NP_060267.2	Q9BX70	BTBD2_HUMAN	BTB (POZ) domain containing 2	439						cytoplasmic mRNA processing body (GO:0000932)				endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	12		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCAGCTGAAGCCCGTGTCGT	0.637																																						ENST00000255608.4																			0				endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	12						c.(1315-1317)ggC>ggT		BTB (POZ) domain containing 2							75.0	81.0	79.0					19																	1986928		2203	4300	6503	SO:0001819	synonymous_variant	55643					cytoplasmic mRNA processing body	protein binding	g.chr19:1986928G>A	AF355797	CCDS12078.1	19p13.3	2013-10-02			ENSG00000133243	ENSG00000133243		"""BTB/POZ domain containing"""	15504	protein-coding gene	gene with protein product		608531				11179693	Standard	XM_005259593		Approved		uc002lup.1	Q9BX70	OTTHUMG00000180017	ENST00000255608.4:c.1317C>T	19.37:g.1986928G>A							p.G439G	NM_017797.3	NP_060267.2	Q9BX70	BTBD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	8	1333	-		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)	439					O60418|O75248|Q4VBZ1|Q6IAC5|Q7Z5W0|Q96SX8|Q9NPS1|Q9NX81	Silent	SNP	ENST00000255608.4	37	c.1317C>T	CCDS12078.1																																																																																				0.637	BTBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449300.2			45	10	0	0	0	1	0	45	10				
MUC16	94025	broad.mit.edu	37	19	9058119	9058119	+	Nonsense_Mutation	SNP	G	G	C			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr19:9058119G>C	ENST00000397910.4	-	3	29530	c.29327C>G	c.(29326-29328)tCa>tGa	p.S9776*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9778	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTTAGGCTCTGAGCTTGTATC	0.468																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(29326-29328)tCa>tGa		mucin 16, cell surface associated							64.0	61.0	62.0					19																	9058119		1909	4128	6037	SO:0001587	stop_gained	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9058119G>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.29327C>G	19.37:g.9058119G>C	ENSP00000381008:p.Ser9776*						p.S9776*	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	29530	-			9778			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Nonsense_Mutation	SNP	ENST00000397910.4	37	c.29327C>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	60	45.211857	0.99986	.	.	ENSG00000181143	ENST00000397910	.	.	.	2.72	-1.33	0.09172	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	6.0271	0.19660	0.4807:0.0:0.5193:0.0	.	.	.	.	X	9776	.	ENSP00000381008:S9776X	S	-	2	0	MUC16	8919119	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.063000	0.11655	-0.234000	0.09782	0.557000	0.71058	TCA		0.468	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		10	32	0	0	0	1	0	10	32				
MUC17	140453	broad.mit.edu	37	7	100683805	100683805	+	Silent	SNP	A	A	T			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr7:100683805A>T	ENST00000306151.4	+	3	9172	c.9108A>T	c.(9106-9108)atA>atT	p.I3036I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3036	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GTACCGGCATACCAATCTCAA	0.507																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(9106-9108)atA>atT		mucin 17, cell surface associated							265.0	278.0	273.0					7																	100683805		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100683805A>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.9108A>T	7.37:g.100683805A>T							p.I3036I	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	9172	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3036			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.9108A>T	CCDS34711.1																																																																																				0.507	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		242	223	0	0	0	1	0	242	223				
SYNE1	23345	broad.mit.edu	37	6	152728304	152728304	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr6:152728304C>T	ENST00000367255.5	-	45	7169	c.6568G>A	c.(6568-6570)Gat>Aat	p.D2190N	SYNE1_ENST00000423061.1_Missense_Mutation_p.D2197N|SYNE1_ENST00000448038.1_Missense_Mutation_p.D2197N|SYNE1_ENST00000341594.5_Missense_Mutation_p.D2227N|SYNE1_ENST00000265368.4_Missense_Mutation_p.D2190N|RP3-398G3.5_ENST00000458194.1_RNA	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2190					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTCAGCCTATCCATGTTTTCT	0.443										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(6568-6570)Gat>Aat		spectrin repeat containing, nuclear envelope 1							114.0	95.0	101.0					6																	152728304		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152728304C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.6568G>A	6.37:g.152728304C>T	ENSP00000356224:p.Asp2190Asn	HNSCC(10;0.0054)				SYNE1_ENST00000448038.1_Missense_Mutation_p.D2197N|SYNE1_ENST00000423061.1_Missense_Mutation_p.D2197N|SYNE1_ENST00000265368.4_Missense_Mutation_p.D2190N|SYNE1_ENST00000341594.5_Missense_Mutation_p.D2227N	p.D2190N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	45	7169	-		Ovarian(120;0.0955)	2190					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.6568G>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	14.43	2.532825	0.45073	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.38	5.4	5.4	0.78164	.	0.298003	0.28409	N	0.015451	T	0.19005	0.0456	L	0.43152	1.355	0.80722	D	1	P;B;B;B	0.36282	0.546;0.177;0.319;0.27	B;B;B;B	0.33454	0.164;0.033;0.045;0.066	T	0.02553	-1.1142	10	0.27082	T	0.32	.	16.567	0.84601	0.0:0.8699:0.1301:0.0	.	2173;2190;2190;2197	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	N	2190;2197;2190;2197;2227	ENSP00000356224:D2190N;ENSP00000396024:D2197N;ENSP00000265368:D2190N;ENSP00000390975:D2197N;ENSP00000341887:D2227N	ENSP00000265368:D2190N	D	-	1	0	SYNE1	152769997	1.000000	0.71417	0.998000	0.56505	0.830000	0.47004	5.152000	0.64882	2.711000	0.92665	0.561000	0.74099	GAT		0.443	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		25	16	0	0	0	1	0	25	16				
CUBN	8029	broad.mit.edu	37	10	16882353	16882353	+	Nonsense_Mutation	SNP	G	G	C			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr10:16882353G>C	ENST00000377833.4	-	62	10073	c.10008C>G	c.(10006-10008)taC>taG	p.Y3336*		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3336	CUB 25. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GAAGCTGTAAGTAATTCTGCG	0.443																																						ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(10006-10008)taC>taG		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						116.0	100.0	106.0					10																	16882353		2203	4300	6503	SO:0001587	stop_gained	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16882353G>C	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.10008C>G	10.37:g.16882353G>C	ENSP00000367064:p.Tyr3336*						p.Y3336*	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			62	10073	-			3336			CUB 25.		B0YIZ4|Q5VTA6|Q96RU9	Nonsense_Mutation	SNP	ENST00000377833.4	37	c.10008C>G	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	G	50	16.583094	0.99867	.	.	ENSG00000107611	ENST00000377833;ENST00000545090	.	.	.	4.74	3.84	0.44239	.	0.234344	0.21946	N	0.066809	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.0059	0.41957	0.1634:0.0:0.8366:0.0	.	.	.	.	X	3336;177	.	ENSP00000367064:Y3336X	Y	-	3	2	CUBN	16922359	1.000000	0.71417	0.998000	0.56505	0.384000	0.30261	2.552000	0.45828	0.991000	0.38814	0.561000	0.74099	TAC		0.443	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		4	71	0	0	0	1	0	4	71				
ARID5B	84159	broad.mit.edu	37	10	63810670	63810670	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr10:63810670C>T	ENST00000279873.7	+	5	1167	c.757C>T	c.(757-759)Cgc>Tgc	p.R253C	ARID5B_ENST00000309334.5_Missense_Mutation_p.R10C	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	253					adipose tissue development (GO:0060612)|adrenal gland development (GO:0030325)|cell development (GO:0048468)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|female gonad development (GO:0008585)|fibroblast migration (GO:0010761)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|multicellular organism growth (GO:0035264)|muscle organ morphogenesis (GO:0048644)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					AGGCAGACCACGCAAAAAGAA	0.398																																						ENST00000279873.7																			0				NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44						c.(757-759)Cgc>Tgc		AT rich interactive domain 5B (MRF1-like)							135.0	125.0	128.0					10																	63810670		2203	4300	6503	SO:0001583	missense	84159				liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding	g.chr10:63810670C>T	M73837	CCDS31208.1, CCDS58082.1	10q11.22	2013-02-07			ENSG00000150347	ENSG00000150347		"""-"""	17362	protein-coding gene	gene with protein product		608538				11483573, 11478881	Standard	NM_032199		Approved	FLJ21150, MRF2	uc001jlt.2	Q14865	OTTHUMG00000018298	ENST00000279873.7:c.757C>T	10.37:g.63810670C>T	ENSP00000279873:p.Arg253Cys					ARID5B_ENST00000309334.5_Missense_Mutation_p.R10C	p.R253C	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN			5	1167	+	Prostate(12;0.016)|all_hematologic(501;0.215)		253					B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Missense_Mutation	SNP	ENST00000279873.7	37	c.757C>T	CCDS31208.1	.	.	.	.	.	.	.	.	.	.	C	30	5.053493	0.93793	.	.	ENSG00000150347	ENST00000279873;ENST00000309334	T;T	0.26223	1.75;1.75	6.03	6.03	0.97812	.	0.149203	0.64402	D	0.000008	T	0.54565	0.1866	M	0.70275	2.135	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.998;0.997	T	0.52571	-0.8558	10	0.87932	D	0	-20.5894	20.5568	0.99304	0.0:1.0:0.0:0.0	.	253;10;253	Q14865-3;Q14865-2;Q14865	.;.;ARI5B_HUMAN	C	253;10	ENSP00000279873:R253C;ENSP00000308862:R10C	ENSP00000279873:R253C	R	+	1	0	ARID5B	63480676	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.334000	0.72944	2.861000	0.98227	0.655000	0.94253	CGC		0.398	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048233.1	XM_084482		22	44	0	0	0	1	0	22	44				
CSRP3	8048	broad.mit.edu	37	11	19213897	19213897	+	Silent	SNP	C	C	T	rs147549410		TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr11:19213897C>T	ENST00000533783.1	-	3	339	c.99G>A	c.(97-99)acG>acA	p.T33T	CSRP3_ENST00000265968.3_Silent_p.T33T	NM_003476.4	NP_003467.1	P50461	CSRP3_HUMAN	cysteine and glycine-rich protein 3 (cardiac LIM protein)	33	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue development (GO:0048738)|cardiac myofibril assembly (GO:0055003)|cellular calcium ion homeostasis (GO:0006874)|detection of muscle stretch (GO:0035995)|protein localization to organelle (GO:0033365)|regulation of the force of heart contraction (GO:0002026)|skeletal muscle tissue development (GO:0007519)	cytoskeleton (GO:0005856)|nucleus (GO:0005634)|Z disc (GO:0030018)	actinin binding (GO:0042805)|structural constituent of muscle (GO:0008307)|telethonin binding (GO:0031433)|zinc ion binding (GO:0008270)			kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	10						AGTGGAAACACGTCTTGTGGA	0.517																																						ENST00000533783.1																			0				kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	10						c.(97-99)acG>acA		cysteine and glycine-rich protein 3 (cardiac LIM protein)		C	,	0,4398		0,0,2199	135.0	105.0	115.0		99,99	0.6	1.0	11	dbSNP_134	115	1,8585	1.2+/-3.3	0,1,4292	no	coding-synonymous,coding-synonymous	CSRP3	NM_001127656.1,NM_003476.3	,	0,1,6491	TT,TC,CC		0.0116,0.0,0.0077	,	33/195,33/195	19213897	1,12983	2199	4293	6492	SO:0001819	synonymous_variant	8048				cell differentiation|skeletal muscle tissue development	cytoskeleton|nucleus	protein binding|zinc ion binding	g.chr11:19213897C>T	U20324	CCDS7848.1	11p15.1	2014-09-17				ENSG00000129170			2472	protein-coding gene	gene with protein product		600824				7490106	Standard	NM_003476		Approved	CLP, MLP, CMD1M	uc001mpk.3	P50461		ENST00000533783.1:c.99G>A	11.37:g.19213897C>T						CSRP3_ENST00000265968.3_Silent_p.T33T	p.T33T	NM_003476.4	NP_003467.1	P50461	CSRP3_HUMAN			3	339	-			33			LIM zinc-binding 1.		Q9P131	Silent	SNP	ENST00000533783.1	37	c.99G>A	CCDS7848.1																																																																																				0.517	CSRP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394484.1	NM_003476		3	47	0	0	0	1	0	3	47				
SACS	26278	broad.mit.edu	37	13	23912525	23912525	+	Silent	SNP	C	C	T			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr13:23912525C>T	ENST00000382292.3	-	9	5763	c.5490G>A	c.(5488-5490)ctG>ctA	p.L1830L	SACS_ENST00000382298.3_Silent_p.L1830L|SACS_ENST00000402364.1_Silent_p.L1080L			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	1830					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GGGAAAACTTCAGAGCCTCTC	0.488																																						ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(5488-5490)ctG>ctA		spastic ataxia of Charlevoix-Saguenay (sacsin)							132.0	129.0	130.0					13																	23912525		2203	4299	6502	SO:0001819	synonymous_variant	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23912525C>T	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.5490G>A	13.37:g.23912525C>T						SACS_ENST00000402364.1_Silent_p.L1080L|SACS_ENST00000382292.3_Silent_p.L1830L	p.L1830L	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	6078	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	1830					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Silent	SNP	ENST00000382292.3	37	c.5490G>A	CCDS9300.2																																																																																				0.488	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		60	76	0	0	0	1	0	60	76				
PMP22	5376	broad.mit.edu	37	17	15134175	15134175	+	3'UTR	SNP	T	T	G	rs13422	byFrequency	TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr17:15134175T>G	ENST00000395938.2	-	0	736				PMP22_ENST00000494511.1_Missense_Mutation_p.K121N|PMP22_ENST00000312280.3_3'UTR|PMP22_ENST00000395936.1_3'UTR	NM_001281455.1|NM_153321.1	NP_001268384.1|NP_696996.1	Q01453	PMP22_HUMAN	peripheral myelin protein 22						cell death (GO:0008219)|peripheral nervous system development (GO:0007422)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8				UCEC - Uterine corpus endometrioid carcinoma (92;0.0884)|BRCA - Breast invasive adenocarcinoma(8;4.92e-06)		CTGCTTTCTGTTTTCCCTTCC	0.498													G|||	2982	0.595447	0.7413	0.5648	5008	,	,		17141	0.6012		0.4891	False		,,,				2504	0.5235					ENST00000494511.1																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8						c.(361-363)aaA>aaC		peripheral myelin protein 22																																				SO:0001624	3_prime_UTR_variant	5376				peripheral nervous system development|synaptic transmission	integral to membrane		g.chr17:15134175T>G	D11428	CCDS11168.1	17p12	2014-09-17			ENSG00000109099	ENSG00000109099			9118	protein-coding gene	gene with protein product		601097				8482547, 1497668	Standard	NM_001281456		Approved	HNPP, GAS-3, Sp110	uc002goj.3	Q01453	OTTHUMG00000058960	ENST00000395938.2:c.*59A>C	17.37:g.15134175T>G						PMP22_ENST00000395936.1_3'UTR|PMP22_ENST00000395938.2_3'UTR|PMP22_ENST00000312280.3_3'UTR	p.K121N			Q01453	PMP22_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0884)|BRCA - Breast invasive adenocarcinoma(8;4.92e-06)	3	529	-			0					Q8WV01	Missense_Mutation	SNP	ENST00000395938.2	37	c.363A>C	CCDS11168.1																																																																																				0.498	PMP22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130378.1	NM_000304		3	34	0	0	0	1	0	3	34				
RGL2	5863	broad.mit.edu	37	6	33263944	33263944	+	Missense_Mutation	SNP	T	T	C	rs115737063	byFrequency	TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr6:33263944T>C	ENST00000497454.1	-	6	1124	c.629A>G	c.(628-630)aAt>aGt	p.N210S	PFDN6_ENST00000463584.1_Intron|RGL2_ENST00000437840.2_5'UTR|RGL2_ENST00000444031.2_Missense_Mutation_p.N128S	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	210	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)	intracellular (GO:0005622)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						GGACCGGAGATTGCGGATGAG	0.662													T|||	9	0.00179712	0.0	0.0	5008	,	,		14859	0.0089		0.0	False		,,,				2504	0.0					ENST00000497454.1																			0				breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						c.(628-630)aAt>aGt		ral guanine nucleotide dissociation stimulator-like 2							85.0	101.0	95.0					6																	33263944		2203	4300	6503	SO:0001583	missense	5863				Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	g.chr6:33263944T>C		CCDS4774.1	6p21.3	2010-02-17	2004-06-11	2004-06-16	ENSG00000237441	ENSG00000237441			9769	protein-coding gene	gene with protein product		602306	"""RAB2, member RAS oncogene family-like"""	RAB2L		8976381	Standard	NM_001243738		Approved	KE1.5, HKE1.5	uc003odv.3	O15211	OTTHUMG00000031072	ENST00000497454.1:c.629A>G	6.37:g.33263944T>C	ENSP00000420211:p.Asn210Ser					RGL2_ENST00000437840.2_5'UTR|PFDN6_ENST00000463584.1_Intron|RGL2_ENST00000444031.2_Missense_Mutation_p.N128S	p.N210S	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN			6	1124	-			210			N-terminal Ras-GEF.		B4DG72|Q5STK0|Q9Y3F3	Missense_Mutation	SNP	ENST00000497454.1	37	c.629A>G	CCDS4774.1	5	0.0022893772893772895	0	0.0	0	0.0	5	0.008741258741258742	0	0.0	T	8.851	0.944640	0.18356	.	.	ENSG00000237441	ENST00000497454;ENST00000421215;ENST00000444031	T;T	0.29655	1.56;1.56	4.88	4.88	0.63580	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (2);	0.232813	0.42682	D	0.000677	T	0.08846	0.0219	L	0.36672	1.1	0.27273	N	0.958314	B;B	0.22414	0.069;0.067	B;B	0.18263	0.021;0.018	T	0.12426	-1.0548	10	0.22109	T	0.4	.	7.9303	0.29899	0.1829:0.0:0.0:0.8171	.	128;210	B4DG72;O15211	.;RGL2_HUMAN	S	210;74;128	ENSP00000420211:N210S;ENSP00000403070:N128S	ENSP00000400083:N74S	N	-	2	0	RGL2	33371922	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	1.303000	0.33470	2.032000	0.59987	0.523000	0.50628	AAT		0.662	RGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076098.2			8	223	0	0	0	1	0	8	223				
SHC1	6464	broad.mit.edu	37	1	154938797	154938797	+	Silent	SNP	A	A	G	rs77859168	byFrequency	TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr1:154938797A>G	ENST00000368445.5	-	8	1394	c.1180T>C	c.(1180-1182)Ttg>Ctg	p.L394L	SHC1_ENST00000368450.1_Silent_p.L284L|SHC1_ENST00000368449.4_Silent_p.L165L|SHC1_ENST00000448116.2_Silent_p.L394L|SHC1_ENST00000368453.4_Silent_p.L284L|SHC1_ENST00000490667.1_5'Flank|PYGO2_ENST00000483463.1_5'Flank|SHC1_ENST00000606391.1_Silent_p.L195L	NM_183001.4	NP_892113.4	P29353	SHC1_HUMAN	SHC (Src homology 2 domain containing) transforming protein 1	394	CH1.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|Ras protein signal transduction (GO:0007265)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of growth (GO:0040008)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|Shc-EGFR complex (GO:0070435)	ephrin receptor binding (GO:0046875)|epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phospholipid binding (GO:0005543)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CAACTTACCAATGTAGCTCCC	0.607													G|||	9	0.00179712	0.0	0.0029	5008	,	,		16552	0.0069		0.0	False		,,,				2504	0.0				NSCLC(4;32 234 1864 2492 3259 13747 17376)	ENST00000448116.2																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20						c.(1180-1182)Ttg>Ctg		SHC (Src homology 2 domain containing) transforming protein 1							38.0	45.0	42.0					1																	154938797		2203	4300	6503	SO:0001819	synonymous_variant	6464				activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth	cytosol|mitochondrial matrix|Shc-EGFR complex	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr1:154938797A>G	U73377	CCDS1076.1, CCDS30881.1, CCDS44233.1, CCDS44234.1	1q21	2013-02-14	2002-01-14		ENSG00000160691	ENSG00000160691		"""SH2 domain containing"""	10840	protein-coding gene	gene with protein product		600560	"""SHC (Src homology 2 domain-containing) transforming protein 1"""	SHC		1623525	Standard	NM_003029		Approved	p66	uc001ffw.3	P29353	OTTHUMG00000037295	ENST00000368445.5:c.1180T>C	1.37:g.154938797A>G						SHC1_ENST00000368449.4_Silent_p.L165L|SHC1_ENST00000368450.1_Silent_p.L284L|SHC1_ENST00000368453.4_Silent_p.L284L|SHC1_ENST00000606391.1_Silent_p.L195L|SHC1_ENST00000368445.5_Silent_p.L394L	p.L394L	NM_001130040.1	NP_001123512.1	P29353	SHC1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		8	1400	-	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		394			CH1.		B5BU19|D3DV78|O15290|Q5T180|Q5T183|Q5T184|Q5T185|Q5T186|Q8N4K5|Q96CL1	Silent	SNP	ENST00000368445.5	37	c.1180T>C	CCDS30881.1	5	0.0022893772893772895	0	0.0	0	0.0	5	0.008741258741258742	0	0.0	G	5.552	0.286643	0.10513	.	.	ENSG00000160691	ENST00000444664	.	.	.	5.15	1.85	0.25348	.	.	.	.	.	T	0.47229	0.1434	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42599	-0.9442	4	.	.	.	.	11.1612	0.48516	0.3118:0.0:0.6882:0.0	.	.	.	.	T	57	.	.	I	-	2	0	SHC1	153205421	0.681000	0.27614	0.959000	0.39883	0.352000	0.29268	0.871000	0.28023	0.250000	0.21479	-0.213000	0.12676	ATT		0.607	SHC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090781.2	NM_183001		3	43	0	0	0	1	0	3	43				
LRFN5	145581	broad.mit.edu	37	14	42356737	42356737	+	Silent	SNP	G	G	A			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr14:42356737G>A	ENST00000298119.4	+	3	2098	c.909G>A	c.(907-909)agG>agA	p.R303R	LRFN5_ENST00000554120.1_Silent_p.R303R|LRFN5_ENST00000554171.1_Silent_p.R303R	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	303	Ig-like.					integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		AGGGACAAAGGGCAACACTGA	0.483										HNSCC(30;0.082)																												ENST00000554171.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120						c.(907-909)agG>agA		leucine rich repeat and fibronectin type III domain containing 5							114.0	109.0	111.0					14																	42356737		2203	4300	6503	SO:0001819	synonymous_variant	145581					integral to membrane		g.chr14:42356737G>A	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.909G>A	14.37:g.42356737G>A		HNSCC(30;0.082)				LRFN5_ENST00000554120.1_Silent_p.R303R|LRFN5_ENST00000298119.4_Silent_p.R303R	p.R303R			Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	5	3341	+			303			Ig-like.		B3KU78|Q86XL2	Silent	SNP	ENST00000298119.4	37	c.909G>A	CCDS9678.1																																																																																				0.483	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		42	44	0	0	0	1	0	42	44				
MTMR3	8897	broad.mit.edu	37	22	30409441	30409441	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr22:30409441C>T	ENST00000401950.2	+	14	1756	c.1414C>T	c.(1414-1416)Cgt>Tgt	p.R472C	MTMR3_ENST00000406629.1_Missense_Mutation_p.R472C|MTMR3_ENST00000351488.3_Missense_Mutation_p.R472C|MTMR3_ENST00000323630.5_Missense_Mutation_p.R336C|MTMR3_ENST00000333027.3_Missense_Mutation_p.R472C|CTA-85E5.10_ENST00000429350.1_RNA	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	472	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			TCTGAATGAACGTTGCCCAGT	0.473																																						ENST00000333027.3																			0				breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17						c.(1414-1416)Cgt>Tgt		myotubularin related protein 3							322.0	260.0	281.0					22																	30409441		2203	4300	6503	SO:0001583	missense	8897				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr22:30409441C>T	U58034	CCDS13870.1, CCDS13871.1, CCDS46682.1	22q12.2	2011-06-09			ENSG00000100330	ENSG00000100330		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7451	protein-coding gene	gene with protein product		603558				8640223, 9736772	Standard	NM_153050		Approved	KIAA0371, ZFYVE10, FYVE-DSP1	uc003agv.4	Q13615	OTTHUMG00000151278	ENST00000401950.2:c.1414C>T	22.37:g.30409441C>T	ENSP00000384651:p.Arg472Cys					MTMR3_ENST00000401950.2_Missense_Mutation_p.R472C|MTMR3_ENST00000323630.5_Missense_Mutation_p.R336C|MTMR3_ENST00000351488.3_Missense_Mutation_p.R472C|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000406629.1_Missense_Mutation_p.R472C	p.R472C	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)		14	1742	+			472			Myotubularin phosphatase.		A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Missense_Mutation	SNP	ENST00000401950.2	37	c.1414C>T	CCDS13870.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.754847	0.89843	.	.	ENSG00000100330	ENST00000401950;ENST00000333027;ENST00000323630;ENST00000351488;ENST00000406629	D;D;D;D;D	0.90444	-2.67;-2.67;-2.67;-2.67;-2.67	5.86	5.86	0.93980	Myotubularin phosphatase domain (1);	4.803150	0.00508	N	0.000174	D	0.97123	0.9060	M	0.86502	2.82	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.85130	0.997;0.973;0.997	D	0.87397	0.2367	10	0.87932	D	0	.	19.1654	0.93555	0.0:1.0:0.0:0.0	.	472;472;472	Q13615-3;Q13615;Q13615-2	.;MTMR3_HUMAN;.	C	472;472;336;472;472	ENSP00000384651:R472C;ENSP00000331649:R472C;ENSP00000318070:R336C;ENSP00000307271:R472C;ENSP00000384077:R472C	ENSP00000318070:R336C	R	+	1	0	MTMR3	28739441	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.563000	0.60823	2.778000	0.95560	0.655000	0.94253	CGT		0.473	MTMR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322066.1	NM_021090		19	155	0	0	0	1	0	19	155				
FLG	2312	broad.mit.edu	37	1	152282410	152282410	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr1:152282410C>T	ENST00000368799.1	-	3	4987	c.4952G>A	c.(4951-4953)aGa>aAa	p.R1651K	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1651	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCTGATTGTCTGGAGCTCTC	0.552									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(4951-4953)aGa>aAa		filaggrin							253.0	257.0	255.0					1																	152282410		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152282410C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.4952G>A	1.37:g.152282410C>T	ENSP00000357789:p.Arg1651Lys					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.R1651K	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4987	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1651			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.4952G>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	8.034	0.762490	0.15914	.	.	ENSG00000143631	ENST00000368799	T	0.00824	5.65	3.55	2.61	0.31194	.	.	.	.	.	T	0.00356	0.0011	L	0.44542	1.39	0.09310	N	1	P	0.51057	0.941	B	0.43809	0.432	T	0.20240	-1.0281	9	0.05833	T	0.94	.	9.1394	0.36894	0.0:0.7749:0.2251:0.0	.	1651	P20930	FILA_HUMAN	K	1651	ENSP00000357789:R1651K	ENSP00000357789:R1651K	R	-	2	0	FLG	150549034	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.544000	0.23253	0.597000	0.29811	0.306000	0.20318	AGA		0.552	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		160	209	0	0	0	1	0	160	209				
TVP23C	201158	broad.mit.edu	37	17	15406266	15406266	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr17:15406266C>A	ENST00000225576.3	-	6	838	c.743G>T	c.(742-744)tGg>tTg	p.W248L	TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000519970.1_Intron	NM_145301.2	NP_660344.2	Q96ET8	TV23C_HUMAN	trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)	248						integral component of membrane (GO:0016021)											CCTCCAGGCCCAAAGCCGCAA	0.587																																						ENST00000225576.3																			0											c.(742-744)tGg>tTg		trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)							25.0	30.0	28.0					17																	15406266		2203	4300	6503	SO:0001583	missense	201158							g.chr17:15406266C>A	BC011952	CCDS11170.1, CCDS45617.1	17p12	2012-11-29	2012-11-29	2012-11-29	ENSG00000175106	ENSG00000175106			30453	protein-coding gene	gene with protein product			"""family with sequence similarity 18, member B2"""	FAM18B2			Standard	NM_001135036		Approved	MGC8763	uc002goq.2	Q96ET8	OTTHUMG00000171461	ENST00000225576.3:c.743G>T	17.37:g.15406266C>A	ENSP00000225576:p.Trp248Leu					TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000519970.1_Intron	p.W248L	NM_145301.2	NP_660344.2					6	838	-								Q3LIC7	Missense_Mutation	SNP	ENST00000225576.3	37	c.743G>T	CCDS11170.1	.	.	.	.	.	.	.	.	.	.	C	9.335	1.061429	0.19987	.	.	ENSG00000175106	ENST00000225576	T	0.26518	1.73	3.17	-5.9	0.02275	.	.	.	.	.	T	0.13200	0.0320	N	0.22421	0.69	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.27706	-1.0066	9	0.87932	D	0	.	4.5691	0.12202	0.4042:0.3089:0.0:0.2869	.	248	Q96ET8	F18B2_HUMAN	L	248	ENSP00000225576:W248L	ENSP00000225576:W248L	W	-	2	0	FAM18B2	15346991	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.000000	0.03693	-1.933000	0.01052	-2.160000	0.00327	TGG		0.587	TVP23C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130705.2	NM_145301		19	8	1	0	4.96729e-08	1	5.04872e-08	19	8				
NUTM2G	441457	broad.mit.edu	37	9	99697711	99697711	+	Missense_Mutation	SNP	G	G	A	rs559136580	byFrequency	TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr9:99697711G>A	ENST00000372322.3	+	3	836	c.815G>A	c.(814-816)cGg>cAg	p.R272Q	HIATL2_ENST00000506067.1_Intron|NUTM2G_ENST00000354649.3_Missense_Mutation_p.R272Q	NM_001170741.1	NP_001164212.1	Q5VZR2	NTM2G_HUMAN	NUT family member 2G	272																	AACTTTGACCGGATGATTTTC	0.652													.|||	14	0.00279553	0.0	0.0187	5008	,	,		17284	0.0		0.0	False		,,,				2504	0.001					ENST00000354649.3																			0											c.(814-816)cGg>cAg		NUT family member 2G							58.0	61.0	60.0					9																	99697711		2037	4197	6234	SO:0001583	missense	441457							g.chr9:99697711G>A		CCDS43854.1, CCDS55329.1	9q22.33	2013-05-02	2013-03-14	2013-05-02	ENSG00000188152	ENSG00000188152			23449	protein-coding gene	gene with protein product			"""family with sequence similarity 22, member G"""	FAM22G			Standard	NM_001045477		Approved			Q5VZR2	OTTHUMG00000020305	ENST00000372322.3:c.815G>A	9.37:g.99697711G>A	ENSP00000361397:p.Arg272Gln					NUTM2G_ENST00000372322.3_Missense_Mutation_p.R272Q|HIATL2_ENST00000506067.1_Intron	p.R272Q	NM_001045477.2	NP_001038942.1					3	1530	+								A6NNI5|Q5VZR3	Missense_Mutation	SNP	ENST00000372322.3	37	c.815G>A	CCDS55329.1	.	.	.	.	.	.	.	.	.	.	.	15.14	2.744305	0.49151	.	.	ENSG00000188152	ENST00000354649;ENST00000372322;ENST00000375230	T;T	0.37752	1.18;1.18	1.17	1.17	0.20885	.	0.136860	0.34088	N	0.004279	T	0.47432	0.1445	M	0.74647	2.275	0.18873	N	0.999987	D	0.71674	0.998	P	0.58780	0.845	T	0.26087	-1.0113	10	0.87932	D	0	.	5.7733	0.18265	0.0:0.0:1.0:0.0	.	272	Q5VZR2-2	.	Q	272;272;153	ENSP00000346670:R272Q;ENSP00000361397:R272Q	ENSP00000346670:R272Q	R	+	2	0	FAM22G	98737532	0.994000	0.37717	0.335000	0.25508	0.094000	0.18550	2.613000	0.46351	0.989000	0.38761	0.291000	0.19559	CGG		0.652	NUTM2G-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053291.2	NM_001170741		7	95	0	0	0	1	0	7	95				
CFH	3075	broad.mit.edu	37	1	196709884	196709884	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr1:196709884G>T	ENST00000367429.4	+	18	3158	c.2918G>T	c.(2917-2919)tGc>tTc	p.C973F		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	973	Sushi 16. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						ATTGCAAAATGCTTAGGAGAA	0.358																																						ENST00000367429.4																			0				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101	GRCh37	CM045282	CFH	M		c.(2917-2919)tGc>tTc		complement factor H							139.0	131.0	134.0					1																	196709884		2203	4300	6503	SO:0001583	missense	3075				complement activation, alternative pathway	extracellular space		g.chr1:196709884G>T	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.2918G>T	1.37:g.196709884G>T	ENSP00000356399:p.Cys973Phe						p.C973F	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN			18	3158	+			973			Sushi 16.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000367429.4	37	c.2918G>T	CCDS1385.1	.	.	.	.	.	.	.	.	.	.	.	12.04	1.818510	0.32145	.	.	ENSG00000000971	ENST00000367429	D	0.99304	-5.72	6.16	5.25	0.73442	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	D	0.99651	0.9871	H	0.98769	4.325	0.58432	D	0.999996	D	0.71674	0.998	D	0.74348	0.983	D	0.97599	1.0122	9	0.87932	D	0	.	11.6585	0.51332	0.0809:0.0:0.9191:0.0	.	973	P08603	CFAH_HUMAN	F	973	ENSP00000356399:C973F	ENSP00000356399:C973F	C	+	2	0	CFH	194976507	0.321000	0.24625	0.100000	0.21137	0.080000	0.17528	1.598000	0.36740	1.623000	0.50342	0.650000	0.86243	TGC		0.358	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086412.2	NM_000186		33	33	1	0	1.60099e-16	1	1.70014e-16	33	33				
MCTP1	79772	broad.mit.edu	37	5	94353187	94353187	+	Splice_Site	SNP	T	T	A			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr5:94353187T>A	ENST00000515393.1	-	2	721	c.722A>T	c.(721-723)aAa>aTa	p.K241I	MCTP1_ENST00000312216.8_Splice_Site_p.K20I|MCTP1_ENST00000505208.1_Splice_Site_p.K20I|MCTP1_ENST00000429576.2_Splice_Site_p.K20I	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	241					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		GTTTATTATTTTCTGGAAAAC	0.343																																						ENST00000515393.1																			0				breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41						c.e2-1		multiple C2 domains, transmembrane 1							61.0	60.0	60.0					5																	94353187		2203	4300	6503	SO:0001630	splice_region_variant	79772				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	g.chr5:94353187T>A		CCDS34203.1, CCDS47247.1, CCDS75275.1	5q15	2008-02-05			ENSG00000175471	ENSG00000175471			26183	protein-coding gene	gene with protein product						15528213	Standard	XM_005272082		Approved	FLJ22344	uc003kkx.2	Q6DN14	OTTHUMG00000162742	ENST00000515393.1:c.721-1A>T	5.37:g.94353187T>A						MCTP1_ENST00000312216.8_Splice_Site_p.K20_splice|MCTP1_ENST00000429576.2_Splice_Site_p.K20_splice|MCTP1_ENST00000505208.1_Splice_Site_p.K20_splice	p.K241_splice	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN		all cancers(79;9.1e-17)	2	721	-		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)	241					Q6DN13|Q8N2W1|Q8NBA2|Q96LX0|Q9H6E8	Splice_Site	SNP	ENST00000515393.1	37	c.720_splice	CCDS34203.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.33|14.33	2.503983|2.503983	0.44558|0.44558	.|.	.|.	ENSG00000175471|ENSG00000175471	ENST00000503301|ENST00000515393;ENST00000429576;ENST00000312216;ENST00000508509;ENST00000505208;ENST00000507214;ENST00000514780;ENST00000510732;ENST00000505465	.|T;T;T;T;T;T;T;D;T	.|0.82711	.|-1.2;-0.93;-1.1;-0.93;-1.21;-1.09;-1.23;-1.64;0.61	5.86|5.86	4.73|4.73	0.59995|0.59995	.|.	.|2.596890	.|0.02225	.|N	.|0.064363	T|T	0.72708|0.72708	0.3494|0.3494	N|N	0.08118|0.08118	0|0	0.26511|0.26511	N|N	0.974594|0.974594	.|P;P;B	.|0.42123	.|0.771;0.693;0.0	.|B;B;B	.|0.43783	.|0.424;0.431;0.001	T|T	0.66212|0.66212	-0.5980|-0.5980	5|10	.|0.41790	.|T	.|0.15	-5.6433|-5.6433	4.5406|4.5406	0.12056|0.12056	0.0:0.1912:0.0:0.8088|0.0:0.1912:0.0:0.8088	.|.	.|241;20;20	.|Q6DN14;Q6DN14-3;Q6DN14-2	.|MCTP1_HUMAN;.;.	D|I	49|241;20;20;20;20;2;1;35;20	.|ENSP00000424126:K241I;ENSP00000391639:K20I;ENSP00000308957:K20I;ENSP00000423410:K20I;ENSP00000426438:K20I;ENSP00000424936:K2I;ENSP00000421543:K1I;ENSP00000422219:K35I;ENSP00000422317:K20I	.|ENSP00000308957:K20I	E|K	-|-	3|2	2|0	MCTP1|MCTP1	94378943|94378943	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.550000|0.550000	0.35303|0.35303	2.006000|2.006000	0.40874|0.40874	2.241000|2.241000	0.73720|0.73720	0.533000|0.533000	0.62120|0.62120	GAA|AAA		0.343	MCTP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370280.3	NM_024717	Missense_Mutation	27	22	0	0	0	1	0	27	22				
GAB2	9846	broad.mit.edu	37	11	77930359	77930359	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr11:77930359C>T	ENST00000361507.4	-	10	2075	c.1990G>A	c.(1990-1992)Gtg>Atg	p.V664M	GAB2_ENST00000340149.2_Missense_Mutation_p.V626M	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	664					cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell degranulation (GO:0043306)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			GACTGCCGCACGTCTGTCCAC	0.592																																						ENST00000361507.4																		INTS4/GAB2(2)	0				NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1990-1992)Gtg>Atg		GRB2-associated binding protein 2							125.0	101.0	109.0					11																	77930359		2200	4292	6492	SO:0001583	missense	9846				osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr11:77930359C>T	AB011143	CCDS8259.1, CCDS8260.1	11q13.4-q13.5	2013-01-10			ENSG00000033327	ENSG00000033327		"""Pleckstrin homology (PH) domain containing"""	14458	protein-coding gene	gene with protein product	"""Grb2-associated binder 2"""	606203				10391903, 10068651	Standard	NM_080491		Approved	KIAA0571	uc001ozh.3	Q9UQC2	OTTHUMG00000166673	ENST00000361507.4:c.1990G>A	11.37:g.77930359C>T	ENSP00000354952:p.Val664Met					GAB2_ENST00000340149.2_Missense_Mutation_p.V626M	p.V664M	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)		10	2075	-	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		664					A2RRM2|A6NEW9|A7MD36|O60317	Missense_Mutation	SNP	ENST00000361507.4	37	c.1990G>A	CCDS8259.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.835728	0.91117	.	.	ENSG00000033327	ENST00000340149;ENST00000361507	T;T	0.21734	1.99;1.99	5.38	5.38	0.77491	.	0.000000	0.64402	U	0.000002	T	0.48786	0.1519	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.43829	-0.9367	10	0.56958	D	0.05	-13.3822	19.5013	0.95095	0.0:1.0:0.0:0.0	.	664	Q9UQC2	GAB2_HUMAN	M	626;664	ENSP00000343959:V626M;ENSP00000354952:V664M	ENSP00000343959:V626M	V	-	1	0	GAB2	77608007	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.776000	0.85560	2.677000	0.91161	0.563000	0.77884	GTG		0.592	GAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391085.1	NM_080491		39	37	0	0	0	1	0	39	37				
MYBPH	4608	broad.mit.edu	37	1	203138381	203138381	+	Splice_Site	SNP	C	C	T			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr1:203138381C>T	ENST00000255416.4	-	8	1287	c.1230G>A	c.(1228-1230)aaG>aaA	p.K410K		NM_004997.2	NP_004988.2	Q13203	MYBPH_HUMAN	myosin binding protein H	410	Ig-like C2-type 2.			RASPKP -> ELHQA (in Ref. 1; AAA36339). {ECO:0000305}.	cell adhesion (GO:0007155)|regulation of striated muscle contraction (GO:0006942)	myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		GGCCCCTCACCTTGGGTGAAG	0.647																																					NSCLC(32;174 1025 14462 23899 42933)	ENST00000255416.4																			0				endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1)	20						c.e8+1		myosin binding protein H							43.0	39.0	40.0					1																	203138381		2203	4300	6503	SO:0001630	splice_region_variant	4608				cell adhesion|regulation of striated muscle contraction	myosin filament	structural constituent of muscle	g.chr1:203138381C>T	BC044226	CCDS30975.1	1q32.1	2013-02-11	2001-11-28		ENSG00000133055	ENSG00000133055		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7552	protein-coding gene	gene with protein product		160795	"""myosin-binding protein H"""			8486381	Standard	NM_004997		Approved		uc001gzh.1	Q13203	OTTHUMG00000042121	ENST00000255416.4:c.1230+1G>A	1.37:g.203138381C>T							p.K410_splice	NM_004997.2	NP_004988.2	Q13203	MYBPH_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)	8	1287	-			410	RASPKP -> ELHQA (in Ref. 1; AAA36339).		Ig-like C2-type 2.		Q16886|Q86YC5	Splice_Site	SNP	ENST00000255416.4	37	c.1230_splice	CCDS30975.1																																																																																				0.647	MYBPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100264.1	NM_004997	Silent	11	18	0	0	0	1	0	11	18				
AP5B1	91056	broad.mit.edu	37	11	65545388	65545388	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr11:65545388T>C	ENST00000532090.2	-	2	2786	c.2576A>G	c.(2575-2577)gAt>gGt	p.D859G		NM_138368.4	NP_612377.4	Q2VPB7	AP5B1_HUMAN	adaptor-related protein complex 5, beta 1 subunit	859					endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-type membrane coat adaptor complex (GO:0030119)|lysosomal membrane (GO:0005765)				lung(1)	1						GGCCCAGTCATCGGTCCGCAG	0.697																																						ENST00000532090.2																			0				lung(1)	1						c.(2575-2577)gAt>gGt		adaptor-related protein complex 5, beta 1 subunit							8.0	11.0	10.0					11																	65545388		1977	4089	6066	SO:0001583	missense	91056						protein binding	g.chr11:65545388T>C	JQ313135	CCDS58146.1	11q13.1	2012-02-29			ENSG00000254470	ENSG00000254470			25104	protein-coding gene	gene with protein product		614367				22022230	Standard	NM_138368		Approved	PP1030, AP-5, DKFZp761E198	uc031qbm.1	Q2VPB7	OTTHUMG00000166593	ENST00000532090.2:c.2576A>G	11.37:g.65545388T>C	ENSP00000454303:p.Asp859Gly						p.D859G	NM_138368.4	NP_612377.4	Q2VPB7	YK046_HUMAN			2	2786	-			802					A1L0S6|H6WUK2|Q0D2Q2|Q8N3J7|Q8WYH6	Missense_Mutation	SNP	ENST00000532090.2	37	c.2576A>G	CCDS58146.1																																																																																				0.697	AP5B1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390636.2	NM_138368		5	2	0	0	0	1	0	5	2				
SEZ6L	23544	broad.mit.edu	37	22	26761444	26761444	+	Silent	SNP	C	C	T	rs146313552	byFrequency	TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr22:26761444C>T	ENST00000248933.6	+	13	2801	c.2706C>T	c.(2704-2706)taC>taT	p.Y902Y	SEZ6L_ENST00000529632.2_Silent_p.Y902Y|SEZ6L_ENST00000404234.3_Silent_p.Y902Y|SEZ6L_ENST00000402979.1_Silent_p.Y675Y|SEZ6L_ENST00000360929.3_Silent_p.Y838Y|SEZ6L_ENST00000411842.2_Silent_p.Y99Y|SEZ6L_ENST00000403121.1_Intron|SEZ6L_ENST00000343706.4_Intron|SEZ6L_ENST00000494013.1_3'UTR			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	902	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						TCATGTGCTACGAAGGCTTTG	0.552													C|||	2	0.000399361	0.0	0.0014	5008	,	,		19936	0.0		0.001	False		,,,				2504	0.0					ENST00000529632.2																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						c.(2704-2706)taC>taT		seizure related 6 homolog (mouse)-like		C	,,,,,	2,4404	4.2+/-10.8	0,2,2201	114.0	96.0	102.0		2706,2706,2706,2514,,2706	-1.9	1.0	22	dbSNP_134	102	10,8590	7.7+/-29.5	0,10,4290	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,intron,coding-synonymous	SEZ6L	NM_001184773.1,NM_001184774.1,NM_001184775.1,NM_001184776.1,NM_001184777.1,NM_021115.4	,,,,,	0,12,6491	TT,TC,CC		0.1163,0.0454,0.0923	,,,,,	902/1024,902/1014,902/1012,838/950,,902/1025	26761444	12,12994	2203	4300	6503	SO:0001819	synonymous_variant	23544					endoplasmic reticulum membrane|integral to membrane		g.chr22:26761444C>T	AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"""seizure related gene 6 (mouse)-like"""				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.2706C>T	22.37:g.26761444C>T						SEZ6L_ENST00000402979.1_Silent_p.Y675Y|SEZ6L_ENST00000494013.1_3'UTR|SEZ6L_ENST00000404234.3_Silent_p.Y902Y|SEZ6L_ENST00000343706.4_Intron|SEZ6L_ENST00000403121.1_Intron|SEZ6L_ENST00000360929.3_Silent_p.Y838Y|SEZ6L_ENST00000411842.2_Silent_p.Y99Y|SEZ6L_ENST00000248933.6_Silent_p.Y902Y	p.Y902Y	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN			13	2902	+			902			Sushi 5.		A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Silent	SNP	ENST00000248933.6	37	c.2706C>T	CCDS13833.1																																																																																				0.552	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3			11	88	0	0	0	1	0	11	88				
PLTP	5360	broad.mit.edu	37	20	44538242	44538242	+	Missense_Mutation	SNP	C	C	T	rs200777651		TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr20:44538242C>T	ENST00000477313.1	-	4	992	c.398G>A	c.(397-399)cGg>cAg	p.R133Q	PLTP_ENST00000542937.1_Missense_Mutation_p.R153Q|PLTP_ENST00000354050.4_Intron|PLTP_ENST00000372431.3_Missense_Mutation_p.R133Q|PLTP_ENST00000420868.2_Intron|PLTP_ENST00000372420.1_Missense_Mutation_p.R45Q			P55058	PLTP_HUMAN	phospholipid transfer protein	133					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|sperm motility (GO:0030317)|vitamin E biosynthetic process (GO:0010189)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	lipid binding (GO:0008289)			endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21		Myeloproliferative disorder(115;0.0122)				AGCGGGATCCCGGGAGAGCTC	0.597																																						ENST00000542937.1																			0				endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21						c.(457-459)cGg>cAg		phospholipid transfer protein							83.0	83.0	83.0					20																	44538242		2203	4300	6503	SO:0001583	missense	5360				cellular lipid metabolic process|lipid transport	extracellular region	lipid binding	g.chr20:44538242C>T	L26232	CCDS13386.1, CCDS13387.1, CCDS56196.1, CCDS56197.1	20q13.12	2011-08-16			ENSG00000100979	ENSG00000100979		"""BPI fold containing"""	9093	protein-coding gene	gene with protein product	"""BPI fold containing family E"""	172425					Standard	NM_006227		Approved	BPIFE	uc002xqn.2	P55058	OTTHUMG00000033047	ENST00000477313.1:c.398G>A	20.37:g.44538242C>T	ENSP00000417138:p.Arg133Gln					PLTP_ENST00000354050.4_Intron|PLTP_ENST00000372420.1_Missense_Mutation_p.R45Q|PLTP_ENST00000372431.3_Missense_Mutation_p.R133Q|PLTP_ENST00000420868.2_Intron|PLTP_ENST00000477313.1_Missense_Mutation_p.R133Q	p.R153Q			P55058	PLTP_HUMAN			4	992	-		Myeloproliferative disorder(115;0.0122)	133					A8K006|B4DDD5|B4DRB4|E1P5N8|E7EV16|Q8WTT1|Q9BR07|Q9BSH8	Missense_Mutation	SNP	ENST00000477313.1	37	c.458G>A	CCDS13386.1	.	.	.	.	.	.	.	.	.	.	C	11.87	1.768024	0.31320	.	.	ENSG00000100979	ENST00000372420;ENST00000372431;ENST00000477313;ENST00000542937	T;T;T;T	0.06371	3.31;3.31;3.31;3.31	4.97	2.77	0.32553	Lipid-binding serum glycoprotein, N-terminal (2);Bactericidal permeability-increasing protein, alpha/beta domain (1);	0.356490	0.30219	N	0.010136	T	0.04092	0.0114	N	0.20401	0.57	0.28403	N	0.918545	B;B;B;B	0.24533	0.105;0.105;0.105;0.105	B;B;B;B	0.20184	0.017;0.028;0.028;0.028	T	0.36529	-0.9744	10	0.29301	T	0.29	-8.5399	8.0158	0.30381	0.0:0.6193:0.0:0.3807	.	45;133;133;153	B4DDD5;Q53H91;P55058;B3KUE5	.;.;PLTP_HUMAN;.	Q	45;133;133;153	ENSP00000361497:R45Q;ENSP00000361508:R133Q;ENSP00000417138:R133Q;ENSP00000440296:R153Q	ENSP00000361497:R45Q	R	-	2	0	PLTP	43971649	1.000000	0.71417	0.869000	0.34112	0.632000	0.37999	1.347000	0.33975	0.418000	0.25898	0.462000	0.41574	CGG		0.597	PLTP-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354633.1	NM_006227		7	138	0	0	0	1	0	7	138				
FAM81B	153643	broad.mit.edu	37	5	94782294	94782294	+	Missense_Mutation	SNP	G	G	A	rs370398727		TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr5:94782294G>A	ENST00000283357.5	+	8	968	c.922G>A	c.(922-924)Gaa>Aaa	p.E308K		NM_152548.2	NP_689761	Q96LP2	FA81B_HUMAN	family with sequence similarity 81, member B	308						nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		TAATCTGTACGAAGAAGTTGA	0.279																																						ENST00000283357.5																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(922-924)Gaa>Aaa		family with sequence similarity 81, member B		G	LYS/GLU	0,3578		0,0,1789	34.0	31.0	32.0		922	4.5	0.4	5		32	1,8129		0,1,4064	no	missense	FAM81B	NM_152548.2	56	0,1,5853	AA,AG,GG		0.0123,0.0,0.0085	probably-damaging	308/453	94782294	1,11707	1789	4065	5854	SO:0001583	missense	153643							g.chr5:94782294G>A		CCDS43341.1	5q15	2008-02-05			ENSG00000153347	ENSG00000153347			26335	protein-coding gene	gene with protein product							Standard	NM_152548		Approved	FLJ25333	uc003kla.1	Q96LP2	OTTHUMG00000162837	ENST00000283357.5:c.922G>A	5.37:g.94782294G>A	ENSP00000283357:p.Glu308Lys						p.E308K	NM_152548.2	NP_689761.2	Q96LP2	FA81B_HUMAN		all cancers(79;1.04e-16)	8	968	+		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)	308						Missense_Mutation	SNP	ENST00000283357.5	37	c.922G>A	CCDS43341.1	.	.	.	.	.	.	.	.	.	.	G	19.03	3.748721	0.69533	0.0	1.23E-4	ENSG00000153347	ENST00000283357	T	0.19394	2.15	5.37	4.5	0.54988	.	0.055378	0.64402	D	0.000001	T	0.43299	0.1241	M	0.69823	2.125	0.33547	D	0.595561	D	0.89917	1.0	D	0.85130	0.997	T	0.56347	-0.7994	10	0.28530	T	0.3	-17.7177	13.3893	0.60813	0.0766:0.0:0.9234:0.0	.	308	Q96LP2	FA81B_HUMAN	K	308	ENSP00000283357:E308K	ENSP00000283357:E308K	E	+	1	0	FAM81B	94808050	0.999000	0.42202	0.450000	0.26969	0.933000	0.57130	3.745000	0.55119	1.500000	0.48636	0.650000	0.86243	GAA		0.279	FAM81B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370690.1	NM_152548		9	20	0	0	0	1	0	9	20				
FAM89B	23625	broad.mit.edu	37	11	65340909	65340909	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr11:65340909C>A	ENST00000530349.1	+	2	509	c.367C>A	c.(367-369)Cac>Aac	p.H123N	FAM89B_ENST00000316409.2_Missense_Mutation_p.H110N|EHBP1L1_ENST00000309295.4_5'Flank|FAM89B_ENST00000449319.2_Missense_Mutation_p.T126K			Q8N5H3	FA89B_HUMAN	family with sequence similarity 89, member B	123					negative regulation of SMAD protein import into nucleus (GO:0060392)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	cytoplasm (GO:0005737)	transcription corepressor binding (GO:0001222)			large_intestine(1)|urinary_tract(2)	3						GGACTACAAACACCTGTGCCA	0.612																																						ENST00000316409.2																			0				large_intestine(1)|urinary_tract(2)	3						c.(328-330)Cac>Aac		family with sequence similarity 89, member B							89.0	69.0	76.0					11																	65340909		2201	4297	6498	SO:0001583	missense	23625							g.chr11:65340909C>A	AF052151	CCDS8105.1, CCDS44648.1, CCDS53662.1	11q23	2007-12-04				ENSG00000176973			16708	protein-coding gene	gene with protein product						9525630, 10512749	Standard	NM_152832		Approved		uc001oel.2	Q8N5H3		ENST00000530349.1:c.367C>A	11.37:g.65340909C>A	ENSP00000431459:p.His123Asn					FAM89B_ENST00000530349.1_Missense_Mutation_p.H123N|FAM89B_ENST00000449319.2_Missense_Mutation_p.T126K	p.H110N	NM_001098784.1|NM_001098785.1|NM_152832.2	NP_001092254.1|NP_001092255.1|NP_690045.1	Q8N5H3	FA89B_HUMAN			2	649	+			110					E9PB01|E9PL72|Q6PJ27	Missense_Mutation	SNP	ENST00000530349.1	37	c.328C>A	CCDS53662.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.52|14.52	2.559206|2.559206	0.45590|0.45590	.|.	.|.	ENSG00000173465;ENSG00000176973;ENSG00000176973;ENSG00000176973|ENSG00000176973	ENST00000526433;ENST00000316409;ENST00000530349;ENST00000377088|ENST00000449319	.|.	.|.	.|.	4.64|4.64	4.64|4.64	0.57946|0.57946	.|.	0.000000|.	0.37483|.	N|.	0.002062|.	T|T	0.46756|0.46756	0.1409|0.1409	L|L	0.29908|0.29908	0.895|0.895	0.35020|0.35020	D|D	0.757759|0.757759	P;P|B	0.40834|0.14012	0.73;0.73|0.009	B;B|B	0.41236|0.13407	0.351;0.351|0.009	T|T	0.56709|0.56709	-0.7934|-0.7934	9|8	0.22706|0.66056	T|D	0.39|0.02	-21.4159|-21.4159	12.8835|12.8835	0.58030|0.58030	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	110;123|126	Q8N5H3;E9PL72|E9PB01	FA89B_HUMAN;.|.	N|K	79;110;123;96|126	.|.	ENSP00000314829:H110N|ENSP00000402439:T126K	H|T	+|+	1|2	0|0	SSSCA1;FAM89B|FAM89B	65097485|65097485	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.894000|0.894000	0.52154|0.52154	1.359000|1.359000	0.34113|0.34113	2.402000|2.402000	0.81655|0.81655	0.561000|0.561000	0.74099|0.74099	CAC|ACA		0.612	FAM89B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390095.1	NM_152832		3	30	1	0	1	1	1	3	30				
ZFAT	57623	broad.mit.edu	37	8	135612748	135612748	+	Silent	SNP	G	G	A	rs144002982	byFrequency	TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr8:135612748G>A	ENST00000377838.3	-	7	2580	c.2406C>T	c.(2404-2406)acC>acT	p.T802T	ZFAT_ENST00000520214.1_Silent_p.T790T|ZFAT_ENST00000523399.1_Silent_p.T740T|ZFAT-AS1_ENST00000505776.1_RNA|ZFAT_ENST00000429442.2_Silent_p.T790T|ZFAT_ENST00000520727.1_Silent_p.T790T|ZFAT_ENST00000520356.1_Silent_p.T790T	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	802					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			CACAGCCATCGGTGGGACACT	0.448													G|||	2	0.000399361	0.0008	0.0	5008	,	,		16996	0.0		0.0	False		,,,				2504	0.001					ENST00000520727.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(2368-2370)acC>acT		zinc finger and AT hook domain containing							181.0	178.0	179.0					8																	135612748		1965	4152	6117	SO:0001819	synonymous_variant	57623				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	g.chr8:135612748G>A	BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"""Zinc fingers, C2H2-type"""	19899	protein-coding gene	gene with protein product		610931	"""zinc finger protein 406"""	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.2406C>T	8.37:g.135612748G>A						ZFAT_ENST00000429442.2_Silent_p.T790T|ZFAT-AS1_ENST00000505776.1_RNA|ZFAT_ENST00000523399.1_Silent_p.T740T|ZFAT_ENST00000520356.1_Silent_p.T790T|ZFAT_ENST00000520214.1_Silent_p.T790T|ZFAT_ENST00000377838.3_Silent_p.T802T	p.T790T	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0432)		8	2669	-	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		802					B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Silent	SNP	ENST00000377838.3	37	c.2370C>T	CCDS47924.1																																																																																				0.448	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939		17	231	0	0	0	1	0	17	231				
FUNDC2	65991	broad.mit.edu	37	X	154282921	154282921	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chrX:154282921G>C	ENST00000369498.3	+	5	798	c.544G>C	c.(544-546)Ggc>Cgc	p.G182R	FUNDC2_ENST00000484175.1_3'UTR	NM_023934.3	NP_076423.2	Q9BWH2	FUND2_HUMAN	FUN14 domain containing 2	182						mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	13	all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ATTTTTCGGAGGCTTTCTGCT	0.428																																						ENST00000369498.3																			0				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	13						c.(544-546)Ggc>Cgc		FUN14 domain containing 2							155.0	143.0	147.0					X																	154282921		2203	4300	6503	SO:0001583	missense	65991					mitochondrion		g.chrX:154282921G>C	AF267862	CCDS14763.1	Xq28	2010-03-12			ENSG00000165775	ENSG00000165775			24925	protein-coding gene	gene with protein product						12477932	Standard	NM_023934		Approved	HCBP6, DC44	uc004fmw.3	Q9BWH2	OTTHUMG00000013504	ENST00000369498.3:c.544G>C	X.37:g.154282921G>C	ENSP00000358510:p.Gly182Arg					FUNDC2_ENST00000484175.1_3'UTR	p.G182R	NM_023934.3	NP_076423.2	Q9BWH2	FUND2_HUMAN			5	798	+	all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		182					B2R7W5|D3DWY5|Q8NHX8|Q9H2I6	Missense_Mutation	SNP	ENST00000369498.3	37	c.544G>C	CCDS14763.1	.	.	.	.	.	.	.	.	.	.	g	22.8	4.341331	0.81911	.	.	ENSG00000165775	ENST00000369498	.	.	.	5.37	5.37	0.77165	.	0.000000	0.85682	U	0.000000	T	0.80276	0.4593	M	0.85859	2.78	0.43540	D	0.995836	D	0.76494	0.999	D	0.73380	0.98	D	0.83501	0.0075	9	0.87932	D	0	.	13.7279	0.62769	0.0:0.0:1.0:0.0	.	182	Q9BWH2	FUND2_HUMAN	R	182	.	ENSP00000358510:G182R	G	+	1	0	FUNDC2	153936115	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.054000	0.76649	2.398000	0.81561	0.586000	0.80456	GGC		0.428	FUNDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037641.3	NM_023934		4	86	0	0	0	1	0	4	86				
TRIM51HP	440041	broad.mit.edu	37	11	55065642	55065642	+	RNA	SNP	C	C	A			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr11:55065642C>A	ENST00000526016.1	-	0	66					NR_038174.2				tripartite motif-containing 51H, pseudogene																		ACAGGGCCGGCAAAAGCTGTG	0.488																																						ENST00000526016.1																			0																																																			0							g.chr11:55065642C>A			11q11	2012-11-02			ENSG00000166007	ENSG00000166007		"""Triparite motif-containing / Pseudogenes"""	43977	pseudogene	pseudogene							Standard	NR_038174		Approved		uc021qjb.1		OTTHUMG00000166775		11.37:g.55065642C>A								NR_038174.2						0	66	-									RNA	SNP	ENST00000526016.1	37																																																																																						0.488	TRIM51HP-002	PUTATIVE	basic|exp_conf	processed_transcript	pseudogene	OTTHUMT00000391438.1			25	34	1	0	9.57634e-11	1	9.89555e-11	25	34				
LRRC37A5P	652972	broad.mit.edu	37	9	114371322	114371322	+	RNA	SNP	T	T	A	rs4978450	byFrequency	TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr9:114371322T>A	ENST00000374304.1	-	0	477							Q49AS3	L37A5_HUMAN	leucine rich repeat containing 37, member A5, pseudogene																		TTTCTGTTCATTCTGGGCTTC	0.483													N|||	1847	0.36881	0.4448	0.5	5008	,	,		24010	0.4494		0.2266	False		,,,				2504	0.2362					ENST00000374304.1																			0																																																			0							g.chr9:114371322T>A	BC031236		9q31.3	2012-10-16	2012-03-07	2012-03-07	ENSG00000204173	ENSG00000204173			23369	pseudogene	pseudogene			"""chromosome 9 open reading frame 29"""	C9orf29			Standard	NR_034087		Approved		uc022bly.1	Q49AS3	OTTHUMG00000020494		9.37:g.114371322T>A														0	477	-								Q5JVP0	RNA	SNP	ENST00000374304.1	37			976	0.4468864468864469	327	0.6646341463414634	182	0.5027624309392266	262	0.458041958041958	205	0.2704485488126649	N	5.495	0.276247	0.10403	.	.	ENSG00000204173	ENST00000374306;ENST00000536054;ENST00000374304;ENST00000374302	.	.	.	0.957	0.957	0.19613	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	N	0.999995	.	.	.	.	.	.	T	0.39440	-0.9614	4	0.87932	D	0	.	3.6859	0.08328	0.0:0.7303:0.0:0.2697	rs4978450;rs58397692	.	.	.	L	96;88;22;22	.	ENSP00000363420:M22L	M	-	1	0	C9orf29	113411143	0.323000	0.24643	0.355000	0.25773	0.022000	0.10575	-1.070000	0.03440	0.007000	0.14760	-0.997000	0.02515	ATG		0.483	LRRC37A5P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000053655.2	NR_034087		3	26	0	0	0	1	0	3	26				
ARHGEF26	26084	broad.mit.edu	37	3	153943759	153943759	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr3:153943759delT	ENST00000356448.4	+	11	2334	c.2050delT	c.(2050-2052)tttfs	p.F684fs	ARHGEF26_ENST00000465093.1_Frame_Shift_Del_p.F684fs|ARHGEF26_ENST00000483068.1_3'UTR|ARHGEF26_ENST00000465817.1_Intron	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26	684	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				endothelial cell morphogenesis (GO:0001886)|ruffle assembly (GO:0097178)	cell projection (GO:0042995)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						AGTCTACTTCTTTCTCTTTAA	0.403																																					GBM(163;191 2003 24758 29593 48540)|Ovarian(152;631 1885 20165 22910 51013)	ENST00000356448.4																			0				endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						c.(2050-2052)ttfs		Rho guanine nucleotide exchange factor (GEF) 26							115.0	102.0	106.0					3																	153943759		1898	4111	6009	SO:0001589	frameshift_variant	26084				regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity	g.chr3:153943759delT	BC016628	CCDS46938.1, CCDS58858.1	3q25.2	2013-01-10			ENSG00000114790	ENSG00000114790		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	24490	protein-coding gene	gene with protein product	"""Src homology 3 domain-containing guanine nucleotide exchange factor"""					15133129, 12697679	Standard	NM_015595		Approved	DKFZP434D146, SGEF	uc021xgc.1	Q96DR7	OTTHUMG00000159098	ENST00000356448.4:c.2050delT	3.37:g.153943759delT	ENSP00000348828:p.Phe684fs					ARHGEF26_ENST00000465093.1_Frame_Shift_Del_p.F684fs|ARHGEF26_ENST00000465817.1_Intron|ARHGEF26_ENST00000483068.1_3'UTR	p.F684fs	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN			11	2334	+			684			PH.		B3KVP8|E9PBD0|Q68CL1|Q6AZ96|Q6Q8Q8|Q96AW8|Q96DR6|Q9H9D7|Q9H9R2|Q9UFW5	Frame_Shift_Del	DEL	ENST00000356448.4	37	c.2050delT	CCDS46938.1																																																																																				0.403	ARHGEF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353287.3	NM_015595		15	31						15	31	---	---	---	---
FAM177A1P1	728710	broad.mit.edu	37	4	99877753	99877754	+	RNA	DEL	AA	AA	-	rs33952764|rs373692463|rs59266273	byFrequency	TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr4:99877753_99877754delAA	ENST00000583654.1	+	0	237																											actctgtctcaaaaaaaaaaaa	0.45																																						ENST00000583654.1																			0																																																			0							g.chr4:99877753_99877754delAA																													4.37:g.99877763_99877764delAA														0	237	+									RNA	DEL	ENST00000583654.1	37																																																																																						0.450	RP11-571L19.7-001	KNOWN	non_canonical_other|not_organism_supported|basic	antisense	antisense	OTTHUMT00000441787.1			3	6						3	6	---	---	---	---
RAPGEF6	51735	broad.mit.edu	37	5	130857100	130857102	+	In_Frame_Del	DEL	AAC	AAC	-			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr5:130857100_130857102delAAC	ENST00000509018.1	-	7	813_815	c.608_610delGTT	c.(607-612)agttta>ata	p.203_204SL>I	CTC-432M15.3_ENST00000514667.1_In_Frame_Del_p.253_254SL>I|RAPGEF6_ENST00000308008.6_In_Frame_Del_p.203_204SL>I|RAPGEF6_ENST00000296859.6_In_Frame_Del_p.203_204SL>I|RAPGEF6_ENST00000507093.1_In_Frame_Del_p.203_204SL>I|RAPGEF6_ENST00000510071.1_In_Frame_Del_p.203_204SL>I|RAPGEF6_ENST00000307984.5_In_Frame_Del_p.203_204SL>I	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	203					positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		ATATCAGATAAACTGCTGCTTCC	0.404																																					Melanoma(168;435 1955 13113 13877 23213)	ENST00000509018.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31						c.(607-612)ata>a		Rap guanine nucleotide exchange factor (GEF) 6																																				SO:0001651	inframe_deletion	51735				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding	g.chr5:130857100_130857102delAAC	AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 2"""	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.608_610delGTT	5.37:g.130857100_130857102delAAC	ENSP00000421684:p.Ser203_Leu204delinsIle					RAPGEF6_ENST00000510071.1_In_Frame_Del_p.SL203del|RAPGEF6_ENST00000308008.6_In_Frame_Del_p.SL203del|RAPGEF6_ENST00000296859.6_In_Frame_Del_p.SL203del|RAPGEF6_ENST00000307984.5_In_Frame_Del_p.SL203del|RAPGEF6_ENST00000507093.1_In_Frame_Del_p.SL203del|FNIP1_ENST00000514667.1_In_Frame_Del_p.SL253del	p.SL203del	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)	7	813_815	-			203					A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	In_Frame_Del	DEL	ENST00000509018.1	37	c.608_610delGTT	CCDS34225.1																																																																																				0.404	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340		33	58						33	58	---	---	---	---
GS1-124K5.2	0	broad.mit.edu	37	7	65888987	65888987	+	RNA	DEL	C	C	-	rs77289928|rs199834994|rs559767770		TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr7:65888987delC	ENST00000442578.1	-	0	826																											Ctttttttttctttttttttt	0.483																																						ENST00000442578.1																			0																																																			0							g.chr7:65888987delC																													7.37:g.65888987delC														0	826	-									RNA	DEL	ENST00000442578.1	37																																																																																						0.483	GS1-124K5.2-001	KNOWN	basic|readthrough_transcript	processed_transcript	pseudogene	OTTHUMT00000344730.1			2	4						2	4	---	---	---	---
ATP8B5P	158381	broad.mit.edu	37	9	35450410	35450411	+	RNA	INS	-	-	T	rs547771520	byFrequency	TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr9:35450410_35450411insT	ENST00000430846.1	+	0	3260_3261									ATPase, class I, type 8B, member 5, pseudogene																		TTGACTTGAGGTTTTTTTTTCC	0.342													?|TTTTTTTTT|TTTTTTTTTT|unsure	30	0.00599042	0.0015	0.0014	5008	,	,		17840	0.001		0.001	False		,,,				2504	0.0256					ENST00000430846.1																			0																																																			0							g.chr9:35450410_35450411insT			9p13.3	2010-09-22			ENSG00000179766	ENSG00000179766		"""ATPases / P-type"""	27245	pseudogene	pseudogene	"""flippase expressed in testis splicing form A pseudogene"""					20210903, 19657017	Standard	NR_003582		Approved	FetA	uc010mkn.2		OTTHUMG00000019862		9.37:g.35450419_35450419dupT														0	3260_3261	+									RNA	INS	ENST00000430846.1	37																																																																																						0.342	ATP8B5P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000052312.1	NR_003581.1		2	4						2	4	---	---	---	---
ITPR2	3709	broad.mit.edu	37	12	26580952	26580952	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr12:26580952delA	ENST00000381340.3	-	49	7255	c.6839delT	c.(6838-6840)ttcfs	p.F2281fs		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2281					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	CTTGGAGAAGAAAAACAGCAT	0.393																																						ENST00000381340.3																		ETV6/ITPR2(2)	0				biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125						c.(6838-6840)tcfs		inositol 1,4,5-trisphosphate receptor, type 2							95.0	86.0	89.0					12																	26580952		1847	4100	5947	SO:0001589	frameshift_variant	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26580952delA	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.6839delT	12.37:g.26580952delA	ENSP00000370744:p.Phe2281fs						p.F2281fs	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN			49	7255	-	Colorectal(261;0.0847)		2281					O94773	Frame_Shift_Del	DEL	ENST00000381340.3	37	c.6839delT	CCDS41764.1																																																																																				0.393	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		17	27						17	27	---	---	---	---
APOBR	55911	broad.mit.edu	37	16	28511176	28511178	+	IGR	DEL	CTC	CTC	-			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr16:28511176_28511178delCTC	ENST00000431282.1	+	0	3414				IL27_ENST00000356897.1_In_Frame_Del_p.E176del			Q0VD83	APOBR_HUMAN	apolipoprotein B receptor						cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	chylomicron (GO:0042627)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						GCCCCTtcctctcctcctcctcc	0.685																																						ENST00000356897.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	10						c.(526-528)del		interleukin 27																																				SO:0001628	intergenic_variant	246778				inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of defense response to virus|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation	extracellular space	cytokine activity|interleukin-27 receptor binding	g.chr16:28511176_28511178delCTC	AK025123	CCDS58442.1	16p11.2	2011-02-14			ENSG00000184730	ENSG00000184730			24087	protein-coding gene	gene with protein product	"""apolipoprotein B48 receptor"", ""apolipoprotein B100 receptor"""	605220				10852956	Standard	NM_018690		Approved	APOB48R, APOB100R	uc002dqb.2	Q0VD83			16.37:g.28511185_28511187delCTC							p.E176del	NM_145659.3	NP_663634.2	Q8NEV9	IL27A_HUMAN			5	548_550	-			176			Glu-rich.		H3BU97|Q0VD81|Q8NC15|Q9NPJ9	In_Frame_Del	DEL	ENST00000431282.1	37	c.526_528delGAG																																																																																					0.685	APOBR-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_182804		3	3						3	3	---	---	---	---
