#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
C8orf76	84933	broad.mit.edu	37	8	124243966	124243966	+	Missense_Mutation	SNP	G	G	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr8:124243966G>A	ENST00000276704.4	-	4	440	c.389C>T	c.(388-390)aCc>aTc	p.T130I	C8orf76_ENST00000521310.1_5'UTR|ZHX1-C8ORF76_ENST00000357082.4_Missense_Mutation_p.T98I	NM_032847.2	NP_116236.1	Q96K31	CH076_HUMAN	chromosome 8 open reading frame 76	130										NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4)	17	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			GAGTACCGTGGTTAAATGGTC	0.343																																						ENST00000276704.4																			0				NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4)	17						c.(388-390)aCc>aTc		chromosome 8 open reading frame 76							59.0	65.0	63.0					8																	124243966		2202	4297	6499	SO:0001583	missense	84933						binding	g.chr8:124243966G>A	AK027731	CCDS6341.1	8q24.13	2012-06-27			ENSG00000189376	ENSG00000189376			25924	protein-coding gene	gene with protein product							Standard	NM_032847		Approved	FLJ14825	uc003yqc.2	Q96K31	OTTHUMG00000172562	ENST00000276704.4:c.389C>T	8.37:g.124243966G>A	ENSP00000276704:p.Thr130Ile					ZHX1-C8ORF76_ENST00000357082.4_Missense_Mutation_p.T98I|C8orf76_ENST00000521310.1_5'UTR	p.T130I	NM_032847.2	NP_116236.1	Q96K31	CH076_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		4	440	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		130					Q53HC1	Missense_Mutation	SNP	ENST00000276704.4	37	c.389C>T	CCDS6341.1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.687822	0.68271	.	.	ENSG00000189376	ENST00000276704;ENST00000357082	T;T	0.75821	-0.97;-0.97	5.74	5.74	0.90152	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	D	0.87132	0.6101	M	0.79475	2.455	0.54753	D	0.999986	D;D	0.76494	0.999;0.999	D;D	0.77557	0.99;0.99	D	0.87864	0.2666	10	0.87932	D	0	-16.9965	19.5461	0.95297	0.0:0.0:1.0:0.0	.	98;130	Q96EF9;Q96K31	.;CH076_HUMAN	I	130;98	ENSP00000276704:T130I;ENSP00000349593:T98I	ENSP00000276704:T130I	T	-	2	0	C8orf76	124313147	1.000000	0.71417	0.999000	0.59377	0.472000	0.32918	4.090000	0.57693	2.715000	0.92844	0.655000	0.94253	ACC		0.343	C8orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381748.1	NM_032847		21	134	0	0	0	1	0	21	134				
CRB1	23418	broad.mit.edu	37	1	197404289	197404289	+	Missense_Mutation	SNP	C	C	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr1:197404289C>A	ENST00000367400.3	+	9	3431	c.3296C>A	c.(3295-3297)aCa>aAa	p.T1099K	CRB1_ENST00000538660.1_Intron|CRB1_ENST00000544212.1_Missense_Mutation_p.T580K|CRB1_ENST00000367397.1_Missense_Mutation_p.T480K|RP11-75C23.1_ENST00000422250.1_RNA|CRB1_ENST00000535699.1_Missense_Mutation_p.T1075K|CRB1_ENST00000367399.2_Missense_Mutation_p.T987K	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	1099	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.		T -> K (in RP12). {ECO:0000269|PubMed:21987686}.		cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TGTCTAAGTACAATAGAAATC	0.358																																						ENST00000367397.1																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						c.(1438-1440)aCa>aAa		crumbs homolog 1 (Drosophila)							59.0	64.0	62.0					1																	197404289		2203	4300	6503	SO:0001583	missense	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197404289C>A		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.3296C>A	1.37:g.197404289C>A	ENSP00000356370:p.Thr1099Lys					CRB1_ENST00000544212.1_Missense_Mutation_p.T580K|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000367400.3_Missense_Mutation_p.T1099K|CRB1_ENST00000535699.1_Missense_Mutation_p.T1075K|CRB1_ENST00000367399.2_Missense_Mutation_p.T987K	p.T480K			P82279	CRUM1_HUMAN			5	2297	+			1099		C -> G (in LCA8).|C -> R (in LCA8).	EGF-like 11.		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	c.1439C>A	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	C	15.45	2.837562	0.50951	.	.	ENSG00000134376	ENST00000535699;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000367397;ENST00000367401	T;T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32;-0.32	5.7	5.7	0.88788	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	T	0.79269	0.4417	M	0.70595	2.14	0.45777	D	0.998664	D;D;D;D	0.89917	1.0;1.0;0.992;0.982	D;D;P;P	0.85130	0.997;0.996;0.73;0.824	T	0.76743	-0.2847	9	0.32370	T	0.25	.	13.0831	0.59125	0.0:0.9268:0.0:0.0732	.	1075;987;748;1099	F5H0L2;P82279-3;P82279-4;P82279	.;.;.;CRUM1_HUMAN	K	1075;1099;987;580;480;748	ENSP00000438786:T1075K;ENSP00000356370:T1099K;ENSP00000356369:T987K;ENSP00000444556:T580K;ENSP00000356367:T480K	ENSP00000356367:T480K	T	+	2	0	CRB1	195670912	1.000000	0.71417	0.995000	0.50966	0.345000	0.29048	4.441000	0.59981	2.681000	0.91329	0.650000	0.86243	ACA		0.358	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		32	55	1	0	1.08312e-15	1	1.21362e-15	32	55				
PAPOLB	56903	broad.mit.edu	37	7	4900494	4900494	+	Silent	SNP	G	G	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr7:4900494G>A	ENST00000404991.1	-	1	1131	c.945C>T	c.(943-945)atC>atT	p.I315I	RADIL_ENST00000399583.3_Intron|RADIL_ENST00000536091.1_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	315					mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		CTGGTGTGATGATAGGCATAA	0.453																																						ENST00000404991.1																			0				kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14						c.(943-945)atC>atT		poly(A) polymerase beta (testis specific)							167.0	153.0	158.0					7																	4900494		2203	4300	6503	SO:0001819	synonymous_variant	56903				mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding	g.chr7:4900494G>A	AF218840		7p22.1	2008-02-08			ENSG00000218823	ENSG00000218823	2.7.7.19		15970	protein-coding gene	gene with protein product		607436				11150526	Standard	NM_020144		Approved	PAPT	uc003snk.3	Q9NRJ5	OTTHUMG00000151759	ENST00000404991.1:c.945C>T	7.37:g.4900494G>A						RADIL_ENST00000536091.1_Intron|RADIL_ENST00000399583.3_Intron	p.I315I	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)	1	1131	-		Ovarian(82;0.0175)	315					Q75LH1|Q8NE14	Silent	SNP	ENST00000404991.1	37	c.945C>T																																																																																					0.453	PAPOLB-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000323797.1	NM_020144		5	141	0	0	0	1	0	5	141				
ZNFX1	57169	broad.mit.edu	37	20	47874151	47874151	+	Missense_Mutation	SNP	T	T	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr20:47874151T>A	ENST00000396105.1	-	8	2713	c.2467A>T	c.(2467-2469)Ata>Tta	p.I823L	ZNFX1_ENST00000371754.4_Missense_Mutation_p.I823L|ZNFX1_ENST00000371752.1_Missense_Mutation_p.I823L	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	823							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GCGATCTCTATCAGCGAACTc	0.527																																						ENST00000396105.1																			0				cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60						c.(2467-2469)Ata>Tta		zinc finger, NFX1-type containing 1							119.0	100.0	106.0					20																	47874151		2203	4300	6503	SO:0001583	missense	57169						metal ion binding	g.chr20:47874151T>A	AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.2467A>T	20.37:g.47874151T>A	ENSP00000379412:p.Ile823Leu					ZNFX1_ENST00000371754.4_Missense_Mutation_p.I823L|ZNFX1_ENST00000371752.1_Missense_Mutation_p.I823L	p.I823L	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		8	2713	-			823					Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	ENST00000396105.1	37	c.2467A>T	CCDS13417.1	.	.	.	.	.	.	.	.	.	.	T	13.98	2.400312	0.42613	.	.	ENSG00000124201	ENST00000396106;ENST00000371754;ENST00000371752;ENST00000396105;ENST00000371744;ENST00000455070	D;D;D;T;D	0.86865	-1.95;-2.18;-2.18;-0.95;-1.68	5.87	5.87	0.94306	.	0.072722	0.64402	D	0.000001	T	0.78155	0.4239	L	0.35341	1.055	0.45690	D	0.9986	B	0.30281	0.275	B	0.29785	0.107	T	0.72711	-0.4211	10	0.07990	T	0.79	-15.7776	10.9517	0.47334	0.1401:0.0:0.0:0.8599	.	823	Q9P2E3	ZNFX1_HUMAN	L	823;823;823;823;823;627	ENSP00000360819:I823L;ENSP00000360817:I823L;ENSP00000379412:I823L;ENSP00000360809:I823L;ENSP00000413800:I627L	ENSP00000360809:I823L	I	-	1	0	ZNFX1	47307558	1.000000	0.71417	0.997000	0.53966	0.563000	0.35712	3.464000	0.53057	2.248000	0.74166	0.533000	0.62120	ATA		0.527	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035		14	63	0	0	0	1	0	14	63				
NR2F2	7026	broad.mit.edu	37	15	96877674	96877674	+	Missense_Mutation	SNP	C	C	G			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr15:96877674C>G	ENST00000394166.3	+	2	2201	c.812C>G	c.(811-813)gCc>gGc	p.A271G	NR2F2_ENST00000453270.2_Missense_Mutation_p.A118G|NR2F2_ENST00000394171.2_Missense_Mutation_p.A118G|MIR1469_ENST00000410719.1_RNA|NR2F2_ENST00000421109.2_Missense_Mutation_p.A138G	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	271	Interaction with ZFPM2. {ECO:0000250}.|Ligand-binding. {ECO:0000250}.				anterior/posterior pattern specification (GO:0009952)|blood vessel morphogenesis (GO:0048514)|fertilization (GO:0009566)|forebrain development (GO:0030900)|intracellular receptor signaling pathway (GO:0030522)|limb development (GO:0060173)|lipid metabolic process (GO:0006629)|maternal placenta development (GO:0001893)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|radial pattern formation (GO:0009956)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to estradiol (GO:0032355)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			CCGCTCCTGGCCGCCGCCGGC	0.647																																						ENST00000394166.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17						c.(811-813)gCc>gGc		nuclear receptor subfamily 2, group F, member 2							40.0	39.0	39.0					15																	96877674		2196	4298	6494	SO:0001583	missense	7026				lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding	g.chr15:96877674C>G	M64497	CCDS10375.1, CCDS45358.1, CCDS45359.1	15q26	2013-01-16			ENSG00000185551	ENSG00000185551		"""Nuclear hormone receptors"""	7976	protein-coding gene	gene with protein product		107773		ARP1, TFCOUP2		8530078, 11544252	Standard	NM_021005		Approved	COUP-TFII, COUPTFB, SVP40, NF-E3	uc010uri.2	P24468	OTTHUMG00000149848	ENST00000394166.3:c.812C>G	15.37:g.96877674C>G	ENSP00000377721:p.Ala271Gly					NR2F2_ENST00000421109.2_Missense_Mutation_p.A138G|NR2F2_ENST00000453270.2_Missense_Mutation_p.A118G|NR2F2_ENST00000394171.2_Missense_Mutation_p.A118G	p.A271G	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0856)		2	2201	+	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		271			Interaction with ZFPM2 (By similarity).|Ligand-binding (By similarity).		B4DQJ2|B6ZGU1|Q03754|Q3KQR7	Missense_Mutation	SNP	ENST00000394166.3	37	c.812C>G	CCDS10375.1	.	.	.	.	.	.	.	.	.	.	C	35	5.545962	0.96488	.	.	ENSG00000185551	ENST00000421109;ENST00000394166;ENST00000394171;ENST00000453270	D;D;D;D	0.96885	-4.16;-4.16;-4.16;-4.16	5.09	5.09	0.68999	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.97405	0.9151	L	0.49256	1.55	0.80722	D	1	D;D	0.89917	1.0;0.961	D;P	0.91635	0.999;0.889	D	0.98323	1.0529	10	0.72032	D	0.01	.	18.4813	0.90812	0.0:1.0:0.0:0.0	.	271;138	P24468;Q3KQR7	COT2_HUMAN;.	G	138;271;118;118	ENSP00000401674:A138G;ENSP00000377721:A271G;ENSP00000377726:A118G;ENSP00000389853:A118G	ENSP00000377721:A271G	A	+	2	0	NR2F2	94678678	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.376000	0.81061	0.655000	0.94253	GCC		0.647	NR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313534.1			7	53	0	0	0	1	0	7	53				
PLEC	5339	broad.mit.edu	37	8	144993029	144993029	+	Missense_Mutation	SNP	C	C	G	rs201100252	byFrequency	TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr8:144993029C>G	ENST00000322810.4	-	32	11540	c.11371G>C	c.(11371-11373)Gag>Cag	p.E3791Q	PLEC_ENST00000356346.3_Missense_Mutation_p.E3640Q|PLEC_ENST00000398774.2_Missense_Mutation_p.E3622Q|PLEC_ENST00000345136.3_Missense_Mutation_p.E3654Q|PLEC_ENST00000527096.1_Missense_Mutation_p.E3677Q|PLEC_ENST00000354589.3_Missense_Mutation_p.E3654Q|PLEC_ENST00000357649.2_Missense_Mutation_p.E3658Q|PLEC_ENST00000436759.2_Missense_Mutation_p.E3681Q|PLEC_ENST00000354958.2_Missense_Mutation_p.E3632Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3791	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						ATCCGAGCCTCGAACAGGTCC	0.617																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(11371-11373)Gag>Cag		plectin							46.0	52.0	50.0					8																	144993029		2073	4190	6263	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144993029C>G	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.11371G>C	8.37:g.144993029C>G	ENSP00000323856:p.Glu3791Gln					PLEC_ENST00000354958.2_Missense_Mutation_p.E3632Q|PLEC_ENST00000436759.2_Missense_Mutation_p.E3681Q|PLEC_ENST00000356346.3_Missense_Mutation_p.E3640Q|PLEC_ENST00000527096.1_Missense_Mutation_p.E3677Q|PLEC_ENST00000357649.2_Missense_Mutation_p.E3658Q|PLEC_ENST00000398774.2_Missense_Mutation_p.E3622Q|PLEC_ENST00000345136.3_Missense_Mutation_p.E3654Q|PLEC_ENST00000354589.3_Missense_Mutation_p.E3654Q	p.E3791Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			32	11540	-			3791			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.11371G>C	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	3.564	-0.088978	0.07097	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.71222	-0.55;-0.55;-0.55;-0.55;-0.55;-0.55;-0.55;-0.55;-0.55	4.25	3.37	0.38596	.	0.372186	0.24511	U	0.037886	T	0.63426	0.2510	L	0.46157	1.445	0.32675	N	0.516325	B;B;B;B;B;B;B;B	0.32160	0.325;0.325;0.325;0.358;0.325;0.325;0.325;0.325	B;B;B;B;B;B;B;B	0.32724	0.098;0.098;0.098;0.072;0.098;0.151;0.098;0.098	T	0.72184	-0.4367	10	0.72032	D	0.01	.	11.7353	0.51761	0.0:0.9121:0.0:0.0879	.	3681;3640;3632;3791;3622;3654;3658;3654	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	Q	3654;3658;3654;3622;3791;3632;3640;3681;3677	ENSP00000344848:E3654Q;ENSP00000350277:E3658Q;ENSP00000346602:E3654Q;ENSP00000381756:E3622Q;ENSP00000323856:E3791Q;ENSP00000347044:E3632Q;ENSP00000348702:E3640Q;ENSP00000388180:E3681Q;ENSP00000434583:E3677Q	ENSP00000323856:E3791Q	E	-	1	0	PLEC	145065017	1.000000	0.71417	0.799000	0.32177	0.046000	0.14306	5.437000	0.66544	1.005000	0.39183	0.448000	0.29417	GAG		0.617	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		11	87	0	0	0	1	0	11	87				
LNX2	222484	broad.mit.edu	37	13	28141920	28141920	+	Missense_Mutation	SNP	G	G	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr13:28141920G>A	ENST00000316334.3	-	4	841	c.712C>T	c.(712-714)Cgg>Tgg	p.R238W		NM_153371.3	NP_699202.1	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	238	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				protein homooligomerization (GO:0051260)		zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		GGATTGGACCGATGAATTTCA	0.413																																						ENST00000316334.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31						c.(712-714)Cgg>Tgg		ligand of numb-protein X 2							138.0	130.0	132.0					13																	28141920		2203	4300	6503	SO:0001583	missense	222484						zinc ion binding	g.chr13:28141920G>A	AL138699	CCDS9323.1	13q12.2	2013-01-09	2004-01-22	2004-01-23	ENSG00000139517	ENSG00000139517		"""RING-type (C3HC4) zinc fingers"""	20421	protein-coding gene	gene with protein product		609733	"""PDZ domain containing ring finger 1"""	PDZRN1			Standard	NM_153371		Approved	MGC46315	uc001url.4	Q8N448	OTTHUMG00000016634	ENST00000316334.3:c.712C>T	13.37:g.28141920G>A	ENSP00000325929:p.Arg238Trp						p.R238W	NM_153371.3	NP_699202.1	Q8N448	LNX2_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)	4	841	-		Lung SC(185;0.0156)	238			PDZ 1.		Q5W0P0|Q6ZMH2|Q96SH4	Missense_Mutation	SNP	ENST00000316334.3	37	c.712C>T	CCDS9323.1	.	.	.	.	.	.	.	.	.	.	G	15.74	2.921691	0.52653	.	.	ENSG00000139517	ENST00000316334	T	0.34472	1.36	5.61	3.82	0.43975	PDZ/DHR/GLGF (3);	0.000000	0.85682	D	0.000000	T	0.70500	0.3231	H	0.95187	3.635	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79852	-0.1628	10	0.87932	D	0	.	14.6455	0.68756	0.0:0.0:0.7338:0.2662	.	238	Q8N448	LNX2_HUMAN	W	238	ENSP00000325929:R238W	ENSP00000325929:R238W	R	-	1	2	LNX2	27039920	1.000000	0.71417	0.919000	0.36401	0.159000	0.22180	6.294000	0.72738	0.680000	0.31366	-0.181000	0.13052	CGG		0.413	LNX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044302.2			18	84	0	0	0	1	0	18	84				
TBC1D16	125058	broad.mit.edu	37	17	77921583	77921583	+	Missense_Mutation	SNP	G	G	C			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr17:77921583G>C	ENST00000310924.2	-	9	1704	c.1589C>G	c.(1588-1590)tCc>tGc	p.S530C	TBC1D16_ENST00000572862.1_Missense_Mutation_p.S168C|TBC1D16_ENST00000340848.7_Missense_Mutation_p.S168C|TBC1D16_ENST00000576768.1_Missense_Mutation_p.S155C|TBC1D16_ENST00000570373.1_Missense_Mutation_p.S169C	NM_001271844.1|NM_001271845.1|NM_019020.2	NP_001258773.1|NP_001258774.1|NP_061893.2	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	530	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			CATCCCTTGGGAATAGCCGAC	0.607																																					Ovarian(14;397 562 4850 31922 49378)	ENST00000310924.2																			0				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28						c.(1588-1590)tCc>tGc		TBC1 domain family, member 16							97.0	72.0	80.0					17																	77921583		2202	4300	6502	SO:0001583	missense	125058					intracellular	Rab GTPase activator activity	g.chr17:77921583G>C	AL157485	CCDS11766.1, CCDS62351.1, CCDS62352.1, CCDS62353.1	17q25.3	2013-07-10				ENSG00000167291			28356	protein-coding gene	gene with protein product						23019362	Standard	NM_019020		Approved	MGC25062, FLJ20748	uc002jxj.4	Q8TBP0		ENST00000310924.2:c.1589C>G	17.37:g.77921583G>C	ENSP00000309794:p.Ser530Cys					TBC1D16_ENST00000340848.7_Missense_Mutation_p.S168C|TBC1D16_ENST00000570373.1_Missense_Mutation_p.S169C|TBC1D16_ENST00000572862.1_Missense_Mutation_p.S168C|TBC1D16_ENST00000576768.1_Missense_Mutation_p.S155C	p.S530C	NM_001271844.1|NM_001271845.1|NM_019020.2	NP_001258773.1|NP_001258774.1|NP_061893.2	Q8TBP0	TBC16_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)		9	1704	-	all_neural(118;0.167)		530			Rab-GAP TBC.		B9A6L7|I3L1E0|I3L4U2|Q8N3Z4|Q96DH7	Missense_Mutation	SNP	ENST00000310924.2	37	c.1589C>G	CCDS11766.1	.	.	.	.	.	.	.	.	.	.	G	14.15	2.450034	0.43531	.	.	ENSG00000167291	ENST00000340848;ENST00000310924	T;T	0.08282	3.11;3.11	5.57	4.6	0.57074	Rab-GAP/TBC domain (4);	0.050884	0.85682	D	0.000000	T	0.03783	0.0107	N	0.01352	-0.895	0.54753	D	0.999985	B;B;B;B	0.10296	0.003;0.001;0.001;0.0	B;B;B;B	0.18263	0.016;0.021;0.021;0.006	T	0.44877	-0.9299	10	0.46703	T	0.11	-38.9453	14.5692	0.68200	0.0704:0.0:0.9296:0.0	.	190;530;530;168	Q96DH7;Q8TBP0;B9A6L7;Q8N3Z4	.;TBC16_HUMAN;.;.	C	168;530	ENSP00000341517:S168C;ENSP00000309794:S530C	ENSP00000309794:S530C	S	-	2	0	TBC1D16	75536178	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	4.467000	0.60155	1.352000	0.45808	0.561000	0.74099	TCC		0.607	TBC1D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437145.1	NM_019020		12	29	0	0	0	1	0	12	29				
ALDOB	229	broad.mit.edu	37	9	104188845	104188845	+	Missense_Mutation	SNP	T	T	G			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr9:104188845T>G	ENST00000374855.4	-	6	740	c.616A>C	c.(616-618)Act>Cct	p.T206P	ALDOB_ENST00000468981.3_5'UTR	NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	206					carbohydrate metabolic process (GO:0005975)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose catabolic process (GO:0006001)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|NADH oxidation (GO:0006116)|positive regulation of ATPase activity (GO:0032781)|small molecule metabolic process (GO:0044281)|vacuolar proton-transporting V-type ATPase complex assembly (GO:0070072)	centriolar satellite (GO:0034451)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)	ATPase binding (GO:0051117)|cytoskeletal protein binding (GO:0008092)|fructose binding (GO:0070061)|fructose-1-phosphate aldolase activity (GO:0061609)|fructose-bisphosphate aldolase activity (GO:0004332)|identical protein binding (GO:0042802)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				ACCTTCTCAGTAACATACTGG	0.368																																						ENST00000374855.4																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24						c.(616-618)Act>Cct		aldolase B, fructose-bisphosphate							120.0	112.0	115.0					9																	104188845		2203	4300	6503	SO:0001583	missense	229				fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding	g.chr9:104188845T>G	X01098	CCDS6756.1	9q21.3-q22.2	2008-02-05			ENSG00000136872	ENSG00000136872	4.1.2.13		417	protein-coding gene	gene with protein product		612724					Standard	NM_000035		Approved		uc004bbk.2	P05062	OTTHUMG00000020378	ENST00000374855.4:c.616A>C	9.37:g.104188845T>G	ENSP00000363988:p.Thr206Pro					ALDOB_ENST00000468981.2_5'UTR	p.T206P	NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN			6	740	-		Acute lymphoblastic leukemia(62;0.0559)	206					Q13741|Q13742|Q5T7D6	Missense_Mutation	SNP	ENST00000374855.4	37	c.616A>C	CCDS6756.1	.	.	.	.	.	.	.	.	.	.	T	16.28	3.078717	0.55753	.	.	ENSG00000136872	ENST00000374855;ENST00000374853;ENST00000430164	D	0.87491	-2.26	5.62	1.31	0.21738	Aldolase-type TIM barrel (1);	0.228496	0.52532	D	0.000075	D	0.93070	0.7794	H	0.97103	3.94	0.80722	D	1	P	0.39862	0.692	P	0.49252	0.604	D	0.93010	0.6431	10	0.87932	D	0	-10.7803	11.1603	0.48512	0.3728:0.0:0.0:0.6272	.	206	P05062	ALDOB_HUMAN	P	206;133;206	ENSP00000363988:T206P	ENSP00000363986:T133P	T	-	1	0	ALDOB	103228666	1.000000	0.71417	0.804000	0.32291	0.687000	0.40016	4.254000	0.58798	0.363000	0.24346	-0.516000	0.04426	ACT		0.368	ALDOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053434.2			38	22	0	0	0	1	0	38	22				
PHKG1	5260	broad.mit.edu	37	7	56154697	56154697	+	Missense_Mutation	SNP	C	C	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr7:56154697C>T	ENST00000297373.2	-	4	477	c.283G>A	c.(283-285)Gag>Aag	p.E95K	PHKG1_ENST00000452681.2_Missense_Mutation_p.E95K|PHKG1_ENST00000489604.1_5'UTR|PHKG1_ENST00000537360.1_Intron	NM_001258460.1|NM_006213.4	NP_001245389.1|NP_006204.1	Q16816	PHKG1_HUMAN	phosphorylase kinase, gamma 1 (muscle)	95	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)	ATP binding (GO:0005524)|phosphorylase kinase activity (GO:0004689)|tau-protein kinase activity (GO:0050321)			endometrium(1)|large_intestine(1)|lung(5)	7	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GTGTTGGTCTCATAAGTGTCC	0.572																																					Melanoma(184;580 2064 5329 24177 35303)	ENST00000452681.2																			0				endometrium(1)|large_intestine(1)|lung(5)	7						c.(283-285)Gag>Aag		phosphorylase kinase, gamma 1 (muscle)							141.0	135.0	137.0					7																	56154697		2203	4300	6503	SO:0001583	missense	5260				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity	g.chr7:56154697C>T	X80590	CCDS5525.1, CCDS59057.1	7p11.2	2009-07-10			ENSG00000164776	ENSG00000164776	2.7.11.19		8930	protein-coding gene	gene with protein product		172470		PHKG		8530014	Standard	NM_001258459		Approved		uc011kdb.2	Q16816	OTTHUMG00000023869	ENST00000297373.2:c.283G>A	7.37:g.56154697C>T	ENSP00000297373:p.Glu95Lys					PHKG1_ENST00000297373.2_Missense_Mutation_p.E95K|PHKG1_ENST00000537360.1_Intron|PHKG1_ENST00000489604.1_5'UTR	p.E95K	NM_001258459.1	NP_001245388.1	Q16816	PHKG1_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		4	432	-	Breast(14;0.214)		95			Protein kinase.		B7Z1D0|F5H2S1|Q75LP5	Missense_Mutation	SNP	ENST00000297373.2	37	c.283G>A	CCDS5525.1	.	.	.	.	.	.	.	.	.	.	C	35	5.507782	0.96386	.	.	ENSG00000164776	ENST00000452681;ENST00000297373	T;T	0.66460	-0.21;-0.21	5.12	5.12	0.69794	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000003	T	0.81049	0.4742	M	0.66560	2.04	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.99;0.985	T	0.82934	-0.0211	10	0.87932	D	0	-40.143	17.9115	0.88936	0.0:1.0:0.0:0.0	.	86;95;95	B7Z6U2;F5H2S1;Q16816	.;.;PHKG1_HUMAN	K	95	ENSP00000445440:E95K;ENSP00000297373:E95K	ENSP00000297373:E95K	E	-	1	0	PHKG1	56122191	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.629000	0.83207	2.561000	0.86390	0.462000	0.41574	GAG		0.572	PHKG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251587.1	NM_006213		34	68	0	0	0	1	0	34	68				
CORO2B	10391	broad.mit.edu	37	15	69006964	69006964	+	Missense_Mutation	SNP	T	T	C			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr15:69006964T>C	ENST00000566799.1	+	7	861	c.832T>C	c.(832-834)Tat>Cat	p.Y278H	CORO2B_ENST00000540068.1_Missense_Mutation_p.Y273H|CORO2B_ENST00000543950.1_Missense_Mutation_p.Y273H|CORO2B_ENST00000261861.5_Missense_Mutation_p.Y273H			Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	278					actin cytoskeleton organization (GO:0030036)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|membrane (GO:0016020)	actin binding (GO:0003779)|actin filament binding (GO:0051015)			kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						GTTCCCCTTCTATGATGCTGA	0.602																																						ENST00000543950.1																			0				kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						c.(817-819)Tat>Cat		coronin, actin binding protein, 2B							154.0	140.0	145.0					15																	69006964		2200	4298	6498	SO:0001583	missense	10391				actin cytoskeleton organization	actin cytoskeleton|cytoplasm|membrane	actin filament binding	g.chr15:69006964T>C	AB010098	CCDS53952.1, CCDS10229.2	15q22.31	2013-01-10	2001-11-28		ENSG00000103647	ENSG00000103647		"""Coronins"", ""WD repeat domain containing"""	2256	protein-coding gene	gene with protein product	"""clipin C"", ""coronin, actin-binding, 2B"""	605002	"""coronin, actin-binding protein, 2B"""			10224093, 10231032	Standard	NM_001190456		Approved	ClipinC, KIAA0925	uc021spj.1	Q9UQ03	OTTHUMG00000133288	ENST00000566799.1:c.832T>C	15.37:g.69006964T>C	ENSP00000454783:p.Tyr278His					CORO2B_ENST00000566799.1_Missense_Mutation_p.Y278H|CORO2B_ENST00000540068.1_Missense_Mutation_p.Y273H|CORO2B_ENST00000261861.5_Missense_Mutation_p.Y273H	p.Y273H	NM_001190457.1	NP_001177386.1	Q9UQ03	COR2B_HUMAN			7	1171	+			278					A8K0W3|O94767|Q8TAN1	Missense_Mutation	SNP	ENST00000566799.1	37	c.817T>C	CCDS10229.2	.	.	.	.	.	.	.	.	.	.	T	23.7	4.452960	0.84209	.	.	ENSG00000103647	ENST00000261861;ENST00000540068;ENST00000543950	T;T	0.50548	0.74;0.74	5.12	5.12	0.69794	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);Domain of unknown function DUF1900 (1);	0.000000	0.85682	D	0.000000	T	0.75568	0.3867	M	0.93283	3.4	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.82675	-0.0340	10	0.87932	D	0	-15.823	13.7761	0.63055	0.0:0.0:0.0:1.0	.	278	Q9UQ03	COR2B_HUMAN	H	278;273;273	ENSP00000446250:Y273H;ENSP00000443819:Y273H	ENSP00000261861:Y278H	Y	+	1	0	CORO2B	66794018	1.000000	0.71417	0.998000	0.56505	0.921000	0.55340	7.924000	0.87555	1.941000	0.56285	0.459000	0.35465	TAT		0.602	CORO2B-203	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_006091		54	151	0	0	0	1	0	54	151				
CFH	3075	broad.mit.edu	37	1	196716277	196716277	+	Missense_Mutation	SNP	A	A	G			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr1:196716277A>G	ENST00000367429.4	+	22	3770	c.3530A>G	c.(3529-3531)tAt>tGt	p.Y1177C		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	1177	Sushi 20. {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						ATGGAAAATTATAACATAGCA	0.343																																						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						c.(3529-3531)tAt>tGt		complement factor H							112.0	114.0	113.0					1																	196716277		2203	4298	6501	SO:0001583	missense	3075				complement activation, alternative pathway	extracellular space		g.chr1:196716277A>G	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.3530A>G	1.37:g.196716277A>G	ENSP00000356399:p.Tyr1177Cys						p.Y1177C	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN			22	3770	+			1177			Sushi 20.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000367429.4	37	c.3530A>G	CCDS1385.1	.	.	.	.	.	.	.	.	.	.	.	12.49	1.952147	0.34471	.	.	ENSG00000000971	ENST00000367429	D	0.82893	-1.66	4.48	4.48	0.54585	Complement control module (1);Sushi/SCR/CCP (1);	.	.	.	.	D	0.84642	0.5517	L	0.47716	1.5	0.53005	D	0.999964	D	0.67145	0.996	P	0.59221	0.854	D	0.83573	0.0113	9	0.37606	T	0.19	.	11.5443	0.50683	1.0:0.0:0.0:0.0	.	1177	P08603	CFAH_HUMAN	C	1177	ENSP00000356399:Y1177C	ENSP00000356399:Y1177C	Y	+	2	0	CFH	194982900	0.982000	0.34865	0.067000	0.19924	0.024000	0.10985	3.359000	0.52292	2.028000	0.59812	0.454000	0.30748	TAT		0.343	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086412.2	NM_000186		24	82	0	0	0	1	0	24	82				
MISP	126353	broad.mit.edu	37	19	758306	758306	+	Missense_Mutation	SNP	G	G	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr19:758306G>A	ENST00000215582.6	+	2	1463	c.1360G>A	c.(1360-1362)Gag>Aag	p.E454K		NM_173481.2	NP_775752.1	Q8IVT2	MISP_HUMAN	mitotic spindle positioning	454					mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											CTCCACAGCGGAGGCCAAGGC	0.607																																						ENST00000215582.6																			0											c.(1360-1362)Gag>Aag		mitotic spindle positioning							48.0	39.0	42.0					19																	758306		2203	4300	6503	SO:0001583	missense	126353							g.chr19:758306G>A	BC052236	CCDS12042.1	19p13.3	2014-06-25	2013-05-03	2013-05-03	ENSG00000099812	ENSG00000099812			27000	protein-coding gene	gene with protein product	"""mitotic interactor and substrate of Plk1"""	615289	"""chromosome 19 open reading frame 21"""	C19orf21		23574715, 23509069, 24475924	Standard	NM_173481		Approved	DKFZp686H18209, Caprice		Q8IVT2	OTTHUMG00000181786	ENST00000215582.6:c.1360G>A	19.37:g.758306G>A	ENSP00000215582:p.Glu454Lys						p.E454K	NM_173481.2	NP_775752.1					2	1463	+									Missense_Mutation	SNP	ENST00000215582.6	37	c.1360G>A	CCDS12042.1	.	.	.	.	.	.	.	.	.	.	G	9.113	1.006953	0.19199	.	.	ENSG00000099812	ENST00000215582	T	0.32272	1.46	3.71	3.71	0.42584	.	1.158750	0.06746	N	0.779169	T	0.27765	0.0683	L	0.38531	1.155	0.09310	N	1	B	0.25609	0.13	B	0.21360	0.034	T	0.14117	-1.0484	10	0.49607	T	0.09	-15.9184	11.318	0.49403	0.0:0.1847:0.8153:0.0	.	454	Q8IVT2	CS021_HUMAN	K	454	ENSP00000215582:E454K	ENSP00000215582:E454K	E	+	1	0	C19orf21	709306	0.494000	0.26043	0.007000	0.13788	0.003000	0.03518	4.520000	0.60524	1.989000	0.58080	0.491000	0.48974	GAG		0.607	MISP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457600.2	NM_173481		22	22	0	0	0	1	0	22	22				
ZNF99	7652	broad.mit.edu	37	19	22941439	22941439	+	Silent	SNP	G	G	C			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr19:22941439G>C	ENST00000596209.1	-	4	1362	c.1272C>G	c.(1270-1272)ccC>ccG	p.P424P	ZNF99_ENST00000397104.3_Silent_p.P333P	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	424					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CACATTTGCAGGGTTTCTCTG	0.368																																						ENST00000397104.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124						c.(997-999)ccC>ccG		zinc finger protein 99							47.0	48.0	48.0					19																	22941439		2016	4207	6223	SO:0001819	synonymous_variant	7652							g.chr19:22941439G>C	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.1272C>G	19.37:g.22941439G>C						ZNF99_ENST00000596209.1_Silent_p.P424P	p.P333P							5	998	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Silent	SNP	ENST00000596209.1	37	c.999C>G	CCDS59369.1																																																																																				0.368	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		28	45	0	0	0	1	0	28	45				
GNA14	9630	broad.mit.edu	37	9	80262668	80262668	+	Silent	SNP	C	C	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr9:80262668C>T	ENST00000341700.6	-	1	555	c.42G>A	c.(40-42)tcG>tcA	p.S14S		NM_004297.3	NP_004288.1	O95837	GNA14_HUMAN	guanine nucleotide binding protein (G protein), alpha 14	14					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	24						TGATGCGCTGCGACTCCTTCT	0.692																																						ENST00000341700.6																			0				endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	24						c.(40-42)tcG>tcA		guanine nucleotide binding protein (G protein), alpha 14							24.0	23.0	23.0					9																	80262668		2202	4300	6502	SO:0001819	synonymous_variant	9630				activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr9:80262668C>T	AF105201	CCDS6657.1	9q21	2008-05-23			ENSG00000156049	ENSG00000156049			4382	protein-coding gene	gene with protein product		604397				10191087, 17620339	Standard	NM_004297		Approved		uc004aku.3	O95837	OTTHUMG00000020058	ENST00000341700.6:c.42G>A	9.37:g.80262668C>T							p.S14S	NM_004297.3	NP_004288.1	O95837	GNA14_HUMAN			1	555	-			14					B1ALW3	Silent	SNP	ENST00000341700.6	37	c.42G>A	CCDS6657.1																																																																																				0.692	GNA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052759.1			9	7	0	0	0	1	0	9	7				
AIM1	202	broad.mit.edu	37	6	106969284	106969284	+	Missense_Mutation	SNP	G	G	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr6:106969284G>T	ENST00000369066.3	+	2	3464	c.2977G>T	c.(2977-2979)Gac>Tac	p.D993Y		NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		AAGCCGGTATGACCCAAGCAT	0.358																																						ENST00000369066.3																			0				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69						c.(2977-2979)Gac>Tac		absent in melanoma 1							74.0	77.0	76.0					6																	106969284		2203	4300	6503	SO:0001583	missense	202						sugar binding	g.chr6:106969284G>T	U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 4"", ""beta-gamma crystallin domain containing 1"""	601797	"""suppression of tumorigenicity 4 (malignant melanoma)"""	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.2977G>T	6.37:g.106969284G>T	ENSP00000358062:p.Asp993Tyr						p.D993Y	NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)	2	3464	+	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	993					Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000369066.3	37	c.2977G>T	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	G	18.35	3.604934	0.66445	.	.	ENSG00000112297	ENST00000369066	T	0.73047	-0.71	5.6	5.6	0.85130	.	1.262340	0.04960	N	0.461861	T	0.72581	0.3478	M	0.65975	2.015	0.80722	D	1	D	0.56521	0.976	P	0.47744	0.556	T	0.69157	-0.5219	10	0.72032	D	0.01	.	16.8805	0.86061	0.0:0.0:1.0:0.0	.	993	Q9Y4K1	AIM1_HUMAN	Y	993	ENSP00000358062:D993Y	ENSP00000358062:D993Y	D	+	1	0	AIM1	107075977	1.000000	0.71417	0.996000	0.52242	0.474000	0.32979	5.645000	0.67909	2.788000	0.95919	0.655000	0.94253	GAC		0.358	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1			23	82	1	0	5.61819e-17	1	6.32046e-17	23	82				
SACS	26278	broad.mit.edu	37	13	23906234	23906234	+	Silent	SNP	C	C	T	rs369998705		TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr13:23906234C>T	ENST00000382292.3	-	9	12054	c.11781G>A	c.(11779-11781)gcG>gcA	p.A3927A	SACS_ENST00000402364.1_Silent_p.A3177A|SACS_ENST00000382298.3_Silent_p.A3927A			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	3927					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)		TATAATGTGGCGCATCGTCAA	0.443																																						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.(11779-11781)gcG>gcA		spastic ataxia of Charlevoix-Saguenay (sacsin)							129.0	115.0	120.0					13																	23906234		2203	4300	6503	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.chr13:23906234C>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.11781G>A	13.37:g.23906234C>T						SACS_ENST00000402364.1_Silent_p.A3177A|SACS_ENST00000382292.3_Silent_p.A3927A	p.A3927A	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	12369	-		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)	3927					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Silent	SNP	ENST00000382292.3	37	c.11781G>A	CCDS9300.2																																																																																				0.443	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		5	206	0	0	0	1	0	5	206				
FMN1	342184	broad.mit.edu	37	15	33180454	33180454	+	Missense_Mutation	SNP	G	G	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr15:33180454G>A	ENST00000559047.1	-	13	3753	c.3754C>T	c.(3754-3756)Cca>Tca	p.P1252S	FMN1_ENST00000561249.1_Missense_Mutation_p.P1154S|FMN1_ENST00000334528.9_Missense_Mutation_p.P1029S			Q68DA7	FMN1_HUMAN	formin 1	1252	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		AAATCCTGTGGTTCCGGCAAG	0.393																																						ENST00000334528.9																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29						c.(3085-3087)Cca>Tca		formin 1							79.0	76.0	77.0					15																	33180454		1814	4072	5886	SO:0001583	missense	342184				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding	g.chr15:33180454G>A	AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"""limb deformity protein"""	136535	"""formin (limb deformity)"""	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.3754C>T	15.37:g.33180454G>A	ENSP00000454047:p.Pro1252Ser					FMN1_ENST00000561249.1_Missense_Mutation_p.P1154S|FMN1_ENST00000559047.1_Missense_Mutation_p.P1252S	p.P1029S	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	12	3084	-		all_lung(180;1.14e-07)	1252			FH2.		Q3B7I6|Q3ZAR4|Q6ZSY1	Missense_Mutation	SNP	ENST00000559047.1	37	c.3085C>T		.	.	.	.	.	.	.	.	.	.	G	18.00	3.524556	0.64747	.	.	ENSG00000248905	ENST00000334528	T	0.18174	2.23	5.31	5.31	0.75309	.	0.050986	0.85682	D	0.000000	T	0.34106	0.0886	L	0.49640	1.575	.	.	.	D	0.76494	0.999	D	0.69824	0.966	T	0.34477	-0.9827	9	0.66056	D	0.02	.	12.6642	0.56833	0.0758:0.0:0.9242:0.0	.	1029	Q68DA7-5	.	S	1029	ENSP00000333950:P1029S	ENSP00000333950:P1029S	P	-	1	0	FMN1	30967746	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.606000	0.74159	2.642000	0.89623	0.650000	0.86243	CCA		0.393	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	NM_001103184		15	38	0	0	0	1	0	15	38				
DNAJC10	54431	broad.mit.edu	37	2	183601042	183601042	+	Missense_Mutation	SNP	A	A	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr2:183601042A>T	ENST00000264065.7	+	11	1331	c.916A>T	c.(916-918)Att>Ttt	p.I306F	DNAJC10_ENST00000537515.1_Missense_Mutation_p.I306F	NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	306	Trxb 1.				cell redox homeostasis (GO:0045454)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATPase activity (GO:0032781)|protein folding in endoplasmic reticulum (GO:0034975)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|chaperone binding (GO:0051087)|disulfide oxidoreductase activity (GO:0015036)|Hsp70 protein binding (GO:0030544)|misfolded protein binding (GO:0051787)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide oxidoreductase activity (GO:0015035)			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			AAGCTTAGATATTACAACAAG	0.328																																					Pancreas(56;860 1183 25669 35822 48585)	ENST00000264065.6																			0				breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32						c.(916-918)Att>Ttt		DnaJ (Hsp40) homolog, subfamily C, member 10							111.0	107.0	108.0					2																	183601042		2203	4300	6503	SO:0001583	missense	54431				apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding	g.chr2:183601042A>T		CCDS33345.1, CCDS74613.1	2q32.1	2011-11-23			ENSG00000077232	ENSG00000077232		"""Heat shock proteins / DNAJ (HSP40)"", ""Protein disulfide isomerases"""	24637	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 19"""	607987				12411443, 12446677	Standard	NM_018981		Approved	ERdj5, PDIA19	uc002uow.2	Q8IXB1	OTTHUMG00000154209	ENST00000264065.7:c.916A>T	2.37:g.183601042A>T	ENSP00000264065:p.Ile306Phe					DNAJC10_ENST00000537515.1_Missense_Mutation_p.I306F	p.I306F	NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		11	1331	+			306					Q17RJ6|Q3B7W8|Q4ZG06|Q53QT7|Q6UWZ6|Q86T61|Q8NC82|Q8TD87|Q96K38|Q96K44|Q96K54|Q9NSY6	Missense_Mutation	SNP	ENST00000264065.7	37	c.916A>T	CCDS33345.1	.	.	.	.	.	.	.	.	.	.	A	14.84	2.656160	0.47467	.	.	ENSG00000077232	ENST00000264065;ENST00000537515	T;T	0.54279	0.58;0.58	5.44	1.64	0.23874	Thioredoxin-like fold (1);	0.338374	0.32106	N	0.006577	T	0.45236	0.1332	L	0.57536	1.79	0.41151	D	0.986024	B	0.29805	0.257	B	0.29942	0.109	T	0.30851	-0.9964	10	0.42905	T	0.14	.	9.0156	0.36168	0.7079:0.0:0.2921:0.0	.	306	Q8IXB1	DJC10_HUMAN	F	306	ENSP00000264065:I306F;ENSP00000441560:I306F	ENSP00000264065:I306F	I	+	1	0	DNAJC10	183309287	1.000000	0.71417	0.991000	0.47740	0.994000	0.84299	1.693000	0.37742	0.095000	0.17434	0.528000	0.53228	ATT		0.328	DNAJC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334418.2	NM_018981		24	53	0	0	0	1	0	24	53				
NUPL1	9818	broad.mit.edu	37	13	25901160	25901160	+	Missense_Mutation	SNP	A	A	G			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr13:25901160A>G	ENST00000381736.3	+	11	1388	c.1138A>G	c.(1138-1140)Ata>Gta	p.I380V	NUPL1_ENST00000463407.1_Missense_Mutation_p.I380V|NUPL1_ENST00000381718.3_Missense_Mutation_p.I368V|NUPL1_ENST00000466694.1_3'UTR	NM_001008564.1|NM_014089.3	NP_001008564.1|NP_054808.1	Q9BVL2	NUPL1_HUMAN	nucleoporin like 1	380	14 X 2 AA repeats of F-G.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	nucleocytoplasmic transporter activity (GO:0005487)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		TAATTCACATATAACCCCTCA	0.363																																					Pancreas(166;1040 2004 4560 4728 37041)|GBM(109;1045 1520 7614 9308 19618)	ENST00000463407.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16						c.(1138-1140)Ata>Gta		nucleoporin like 1							108.0	109.0	109.0					13																	25901160		2203	4300	6503	SO:0001583	missense	9818				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore		g.chr13:25901160A>G	AB007870	CCDS9314.1, CCDS31949.1	13q12.12	2011-04-12			ENSG00000139496	ENSG00000139496			20261	protein-coding gene	gene with protein product		607615				9455477	Standard	NM_014089		Approved	KIAA0410	uc001uqi.3	Q9BVL2	OTTHUMG00000016608	ENST00000381736.3:c.1138A>G	13.37:g.25901160A>G	ENSP00000371155:p.Ile380Val					NUPL1_ENST00000381736.3_Missense_Mutation_p.I380V|NUPL1_ENST00000466694.1_3'UTR|NUPL1_ENST00000381718.3_Missense_Mutation_p.I368V	p.I380V			Q9BVL2	NUPL1_HUMAN		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)	11	1281	+		Lung SC(185;0.0225)|Breast(139;0.0351)	380			14 X 2 AA repeats of F-G.		A6NI12|B4DZJ1|O43160|Q5JRG2|Q5JRG5	Missense_Mutation	SNP	ENST00000381736.3	37	c.1138A>G	CCDS9314.1	.	.	.	.	.	.	.	.	.	.	A	16.57	3.159534	0.57368	.	.	ENSG00000139496	ENST00000381736;ENST00000381745;ENST00000313619;ENST00000463407;ENST00000381718;ENST00000381747;ENST00000394327	T;T;T;T;T	0.47177	1.45;1.47;1.46;1.46;0.85	5.32	5.32	0.75619	.	0.044144	0.85682	D	0.000000	T	0.47985	0.1475	M	0.70275	2.135	0.58432	D	0.999997	P;B;P	0.35575	0.51;0.168;0.488	B;B;B	0.36567	0.228;0.153;0.217	T	0.52193	-0.8608	10	0.51188	T	0.08	-14.6335	10.7583	0.46249	0.8581:0.0:0.0:0.1419	.	368;380;380	A6NI12;Q9BVL2;Q9BVL2-2	.;NUPL1_HUMAN;.	V	380;368;357;380;368;380;327	ENSP00000371155:I380V;ENSP00000418555:I380V;ENSP00000371137:I368V;ENSP00000371166:I380V;ENSP00000408147:I327V	ENSP00000318459:I357V	I	+	1	0	NUPL1	24799160	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.228000	0.78079	2.135000	0.66039	0.482000	0.46254	ATA		0.363	NUPL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044228.2			49	121	0	0	0	1	0	49	121				
PRKCG	5582	broad.mit.edu	37	19	54403957	54403957	+	Missense_Mutation	SNP	C	C	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr19:54403957C>T	ENST00000263431.3	+	14	1811	c.1529C>T	c.(1528-1530)aCg>aTg	p.T510M	PRKCG_ENST00000542049.1_Missense_Mutation_p.T397M|PRKCG_ENST00000540413.1_Missense_Mutation_p.T510M	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	510	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cell death (GO:0008219)|chemosensory behavior (GO:0007635)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein ubiquitination (GO:0031397)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of mismatch repair (GO:0032425)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to morphine (GO:0043278)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic membrane (GO:0097060)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|zinc ion binding (GO:0008270)	p.T510M(1)		large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)	Tamoxifen(DB00675)	TTCCCCGGGACGACAACCCGC	0.572																																						ENST00000263431.3																			1	Substitution - Missense(1)	p.T510M(1)	large_intestine(1)	large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10						c.(1528-1530)aCg>aTg		protein kinase C, gamma							234.0	229.0	230.0					19																	54403957		2203	4300	6503	SO:0001583	missense	5582				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding	g.chr19:54403957C>T	M13977	CCDS12867.1	19q13.4	2014-09-17			ENSG00000126583	ENSG00000126583	2.7.11.1		9402	protein-coding gene	gene with protein product	"""PKC-gamma"""	176980		PKCG, SCA14		8432525, 3755548	Standard	NM_002739		Approved	PKCC, MGC57564	uc002qcq.1	P05129	OTTHUMG00000064846	ENST00000263431.3:c.1529C>T	19.37:g.54403957C>T	ENSP00000263431:p.Thr510Met					PRKCG_ENST00000542049.1_Missense_Mutation_p.T397M|PRKCG_ENST00000540413.1_Missense_Mutation_p.T510M	p.T510M	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN		GBM - Glioblastoma multiforme(134;0.0521)	14	1811	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		510			Protein kinase.		B7Z8Q0	Missense_Mutation	SNP	ENST00000263431.3	37	c.1529C>T	CCDS12867.1	.	.	.	.	.	.	.	.	.	.	C	11.40	1.627546	0.28978	.	.	ENSG00000126583	ENST00000540413;ENST00000263431;ENST00000542049	T;T;T	0.66638	-0.22;-0.22;-0.22	4.24	2.0	0.26442	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.58666	0.2138	L	0.49699	1.58	0.26030	N	0.98175	D;B;B	0.57257	0.979;0.139;0.044	B;B;B	0.42771	0.397;0.041;0.003	T	0.49341	-0.8950	9	0.44086	T	0.13	.	8.8051	0.34932	0.1704:0.6652:0.1645:0.0	.	397;510;510	B7Z8Q0;F5H5C4;P05129	.;.;KPCG_HUMAN	M	510;510;397	ENSP00000443493:T510M;ENSP00000263431:T510M;ENSP00000438090:T397M	ENSP00000263431:T510M	T	+	2	0	PRKCG	59095769	0.045000	0.20229	0.138000	0.22173	0.948000	0.59901	0.467000	0.22035	0.336000	0.23639	0.462000	0.41574	ACG		0.572	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139233.3	NM_002739		143	275	0	0	0	1	0	143	275				
HMGCS2	3158	broad.mit.edu	37	1	120293524	120293524	+	Silent	SNP	G	G	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr1:120293524G>A	ENST00000369406.3	-	9	1477	c.1428C>T	c.(1426-1428)ttC>ttT	p.F476F	HMGCS2_ENST00000544913.2_Silent_p.F434F	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	476					cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|ketone body biosynthetic process (GO:0046951)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxymethylglutaryl-CoA synthase activity (GO:0004421)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		CAGGTGGGGAGAAATTCACTG	0.488																																						ENST00000369406.3																			0				NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28						c.(1426-1428)ttC>ttT		3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)							59.0	53.0	55.0					1																	120293524		2203	4300	6503	SO:0001819	synonymous_variant	3158				acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity	g.chr1:120293524G>A	BC044217	CCDS905.1, CCDS53353.1	1p13-p12	2014-09-17	2010-04-30		ENSG00000134240	ENSG00000134240			5008	protein-coding gene	gene with protein product		600234	"""3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2 (mitochondrial)"""			7851882, 7893153	Standard	NM_005518		Approved		uc001eid.3	P54868	OTTHUMG00000012101	ENST00000369406.3:c.1428C>T	1.37:g.120293524G>A						HMGCS2_ENST00000544913.2_Silent_p.F434F	p.F476F	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)	9	1477	-	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)	476					B7Z8R3|D3Y5K6|Q5SZU2|Q6IBF4	Silent	SNP	ENST00000369406.3	37	c.1428C>T	CCDS905.1																																																																																				0.488	HMGCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033469.2	NM_005518		8	20	0	0	0	1	0	8	20				
UTRN	7402	broad.mit.edu	37	6	144808721	144808721	+	Missense_Mutation	SNP	G	G	A	rs373769853		TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr6:144808721G>A	ENST00000367545.3	+	28	3860	c.3860G>A	c.(3859-3861)cGc>cAc	p.R1287H		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1287					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GCAGATAATCGCACCCAGATT	0.448																																						ENST00000367545.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148						c.(3859-3861)cGc>cAc		utrophin		G	HIS/ARG	0,4406		0,0,2203	81.0	89.0	86.0		3860	4.4	1.0	6		86	1,8599		0,1,4299	no	missense	UTRN	NM_007124.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1287/3434	144808721	1,13005	2203	4300	6503	SO:0001583	missense	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144808721G>A	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.3860G>A	6.37:g.144808721G>A	ENSP00000356515:p.Arg1287His						p.R1287H	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	28	3860	+		Ovarian(120;0.218)	1287					Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.3860G>A	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.908721	0.92107	0.0	1.16E-4	ENSG00000152818	ENST00000367545	T	0.34472	1.36	5.23	4.36	0.52297	.	0.000000	0.52532	D	0.000071	T	0.49983	0.1589	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.55842	-0.8077	10	0.52906	T	0.07	.	15.5233	0.75881	0.0:0.0:0.8606:0.1394	.	1287	P46939	UTRO_HUMAN	H	1287	ENSP00000356515:R1287H	ENSP00000356515:R1287H	R	+	2	0	UTRN	144850414	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.813000	0.99286	1.328000	0.45358	0.655000	0.94253	CGC		0.448	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			34	66	0	0	0	1	0	34	66				
EXO5	64789	broad.mit.edu	37	1	40981078	40981078	+	Missense_Mutation	SNP	G	G	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr1:40981078G>A	ENST00000372703.1	+	2	1936	c.862G>A	c.(862-864)Gat>Aat	p.D288N	RP11-656D10.5_ENST00000453437.1_RNA|EXO5_ENST00000296380.4_Missense_Mutation_p.D288N|RP11-656D10.6_ENST00000437060.1_RNA|EXO5_ENST00000358527.2_Missense_Mutation_p.D288N			Q9H790	EXO5_HUMAN	exonuclease 5	288					DNA catabolic process, exonucleolytic (GO:0000738)|interstrand cross-link repair (GO:0036297)	cytosol (GO:0005829)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|single-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008310)|single-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0045145)	p.D288Y(1)									CCCAGTTATTGATATCTTGAA	0.493																																						ENST00000372703.1																			1	Substitution - Missense(1)	p.D288Y(1)	urinary_tract(1)								c.(862-864)Gat>Aat		exonuclease 5							172.0	160.0	164.0					1																	40981078		2203	4300	6503	SO:0001583	missense	64789							g.chr1:40981078G>A	AK024797	CCDS453.1	1p34.2	2012-11-02	2012-10-30	2012-10-30	ENSG00000164002	ENSG00000164002			26115	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 176"", ""defects in morphology 1 homolog (S. cerevisiae)"""	C1orf176, DEM1		23095756	Standard	NM_022774		Approved	FLJ21144	uc001cfp.3	Q9H790	OTTHUMG00000007305	ENST00000372703.1:c.862G>A	1.37:g.40981078G>A	ENSP00000361788:p.Asp288Asn					EXO5_ENST00000358527.2_Missense_Mutation_p.D288N|EXO5_ENST00000296380.4_Missense_Mutation_p.D288N	p.D288N							2	1936	+								D3DPV4|Q5SWM7|Q5SWM8|Q5SWM9|Q5SWN0|Q5SWN1|Q8WTW9	Missense_Mutation	SNP	ENST00000372703.1	37	c.862G>A	CCDS453.1	.	.	.	.	.	.	.	.	.	.	G	19.29	3.799888	0.70567	.	.	ENSG00000164002	ENST00000358527;ENST00000372703;ENST00000296380	T;T;T	0.29917	1.55;1.55;1.55	4.89	4.89	0.63831	.	0.000000	0.56097	D	0.000030	T	0.48333	0.1494	L	0.55834	1.745	0.46356	D	0.999001	D	0.89917	1.0	D	0.91635	0.999	T	0.19353	-1.0308	10	0.29301	T	0.29	-8.3459	13.7693	0.63015	0.0:0.0:1.0:0.0	.	288	Q9H790	EXO5_HUMAN	N	288	ENSP00000351328:D288N;ENSP00000361788:D288N;ENSP00000296380:D288N	ENSP00000296380:D288N	D	+	1	0	DEM1	40753665	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.826000	0.69293	2.720000	0.93068	0.650000	0.86243	GAT		0.493	EXO5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019087.1	NM_022774		23	121	0	0	0	1	0	23	121				
FANCC	2176	broad.mit.edu	37	9	97873861	97873861	+	Missense_Mutation	SNP	C	C	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr9:97873861C>T	ENST00000289081.3	-	13	1467	c.1213G>A	c.(1213-1215)Gag>Aag	p.E405K	FANCC_ENST00000375305.1_Missense_Mutation_p.E405K|FANCC_ENST00000464653.1_5'Flank|RP11-80I15.4_ENST00000423075.1_RNA	NM_000136.2	NP_000127.2	Q00597	FANCC_HUMAN	Fanconi anemia, complementation group C	405					DNA repair (GO:0006281)|germ cell development (GO:0007281)|myeloid cell homeostasis (GO:0002262)|nucleotide-excision repair (GO:0006289)|protein complex assembly (GO:0006461)|removal of superoxide radicals (GO:0019430)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				kidney(1)|skin(1)|upper_aerodigestive_tract(1)	3		Acute lymphoblastic leukemia(62;0.138)				GCCACCATCTCAGCCCATCCT	0.577			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000289081.3			yes	Rec		Fanconi anaemia C	9	9q22.3	2176	"""D, Mis, N, F, S"""	"""Fanconi anemia, complementation group C"""			L		"""AML, leukemia"""			0				kidney(1)|skin(1)|upper_aerodigestive_tract(1)	3						c.(1213-1215)Gag>Aag	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group C							113.0	107.0	109.0					9																	97873861		2203	4300	6503	SO:0001583	missense	2176	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	protein complex assembly	cytosol|nucleoplasm	protein binding	g.chr9:97873861C>T	BC006303	CCDS35071.1, CCDS75861.1	9q22.3	2014-09-17			ENSG00000158169	ENSG00000158169		"""Fanconi anemia, complementation groups"""	3584	protein-coding gene	gene with protein product		613899		FACC		1303234	Standard	NM_001243743		Approved	FAC, FA3	uc004avh.3	Q00597	OTTHUMG00000020279	ENST00000289081.3:c.1213G>A	9.37:g.97873861C>T	ENSP00000289081:p.Glu405Lys					FANCC_ENST00000375305.1_Missense_Mutation_p.E405K	p.E405K	NM_000136.2	NP_000127.2	Q00597	FANCC_HUMAN			13	1467	-		Acute lymphoblastic leukemia(62;0.138)	405					B1ALR8	Missense_Mutation	SNP	ENST00000289081.3	37	c.1213G>A	CCDS35071.1	.	.	.	.	.	.	.	.	.	.	C	17.03	3.283984	0.59867	.	.	ENSG00000158169	ENST00000289081;ENST00000375305	T;T	0.52057	0.68;0.68	6.06	4.13	0.48395	.	0.329109	0.35903	N	0.002915	T	0.27524	0.0676	N	0.08118	0	0.18873	N	0.999985	B	0.30563	0.285	B	0.28916	0.096	T	0.27502	-1.0072	10	0.72032	D	0.01	-6.0658	10.8267	0.46635	0.1306:0.8013:0.0:0.0681	.	405	Q00597	FANCC_HUMAN	K	405	ENSP00000289081:E405K;ENSP00000364454:E405K	ENSP00000289081:E405K	E	-	1	0	FANCC	96913682	0.980000	0.34600	0.592000	0.28758	0.012000	0.07955	2.885000	0.48570	1.577000	0.49804	-0.150000	0.13652	GAG		0.577	FANCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053219.1	NM_000136		23	28	0	0	0	1	0	23	28				
TRIM32	22954	broad.mit.edu	37	9	119461060	119461060	+	Missense_Mutation	SNP	G	G	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr9:119461060G>A	ENST00000450136.1	+	2	1200	c.1039G>A	c.(1039-1041)Gag>Aag	p.E347K	TRIM32_ENST00000373983.2_Missense_Mutation_p.E347K|ASTN2_ENST00000361209.2_Intron|ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000373996.3_Intron|ASTN2_ENST00000313400.4_Intron	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	Q13049	TRI32_HUMAN	tripartite motif containing 32	347					fat cell differentiation (GO:0045444)|innate immune response (GO:0045087)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of proteolysis (GO:0045862)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of type I interferon production (GO:0032479)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|striated muscle myosin thick filament (GO:0005863)	ligase activity (GO:0016874)|myosin binding (GO:0017022)|protein self-association (GO:0043621)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|translation initiation factor binding (GO:0031369)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						GCGGGGTCCTGAGGCAGCCTC	0.547																																					Esophageal Squamous(92;212 1916 19711 26951)	ENST00000450136.1																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						c.(1039-1041)Gag>Aag		tripartite motif containing 32							48.0	52.0	51.0					9																	119461060		2203	4300	6503	SO:0001583	missense	22954				fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV	nucleus	myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:119461060G>A	U18543	CCDS6817.1	9q33.1	2014-09-17	2011-01-25		ENSG00000119401	ENSG00000119401		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16380	protein-coding gene	gene with protein product		602290	"""limb girdle muscular dystrophy 2H (autosomal recessive)"", ""tripartite motif-containing 32"""	LGMD2H		11331580, 7778269, 16606853	Standard	NM_001099679		Approved	HT2A, TATIP, BBS11	uc004bjx.2	Q13049	OTTHUMG00000021026	ENST00000450136.1:c.1039G>A	9.37:g.119461060G>A	ENSP00000408292:p.Glu347Lys					ASTN2_ENST00000373996.3_Intron|ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000361209.2_Intron|ASTN2_ENST00000313400.4_Intron|TRIM32_ENST00000373983.2_Missense_Mutation_p.E347K	p.E347K	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	Q13049	TRI32_HUMAN			2	1200	+			347					Q9NQP8	Missense_Mutation	SNP	ENST00000450136.1	37	c.1039G>A	CCDS6817.1	.	.	.	.	.	.	.	.	.	.	G	12.86	2.063554	0.36373	.	.	ENSG00000119401	ENST00000450136;ENST00000373983	D;D	0.81996	-1.56;-1.56	5.05	5.05	0.67936	.	0.070077	0.53938	D	0.000057	T	0.74122	0.3675	N	0.24115	0.695	0.58432	D	0.999997	B	0.09022	0.002	B	0.12156	0.007	T	0.67715	-0.5599	9	.	.	.	-9.347	18.7738	0.91902	0.0:0.0:1.0:0.0	.	347	Q13049	TRI32_HUMAN	K	347	ENSP00000408292:E347K;ENSP00000363095:E347K	.	E	+	1	0	TRIM32	118500881	1.000000	0.71417	0.402000	0.26371	0.828000	0.46876	8.711000	0.91396	2.482000	0.83794	0.650000	0.86243	GAG		0.547	TRIM32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055466.2	NM_012210		6	65	0	0	0	1	0	6	65				
KNDC1	85442	broad.mit.edu	37	10	135009218	135009218	+	Missense_Mutation	SNP	G	G	A	rs182563365		TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr10:135009218G>A	ENST00000304613.3	+	10	1648	c.1627G>A	c.(1627-1629)Gtc>Atc	p.V543I	KNDC1_ENST00000368572.2_Missense_Mutation_p.V543I|KNDC1_ENST00000368571.2_Missense_Mutation_p.V478I			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	543	KIND 2. {ECO:0000255|PROSITE- ProRule:PRU00709}.				cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CAAGTTCAGCGTCCCCCGCAA	0.687													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16017	0.0		0.0	False		,,,				2504	0.0					ENST00000304613.3																			0				NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60						c.(1627-1629)Gtc>Atc		kinase non-catalytic C-lobe domain (KIND) containing 1			ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	47.0	42.0	43.0		1627	-5.3	0.0	10		43	3,8597	3.0+/-9.4	0,3,4297	yes	missense	KNDC1	NM_152643.6	29	0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308	benign	543/1750	135009218	4,13002	2203	4300	6503	SO:0001583	missense	85442				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			g.chr10:135009218G>A	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"""RasGEF domain family, member 2"""	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.1627G>A	10.37:g.135009218G>A	ENSP00000304437:p.Val543Ile					KNDC1_ENST00000368571.2_Missense_Mutation_p.V478I|KNDC1_ENST00000368572.2_Missense_Mutation_p.V543I	p.V543I			Q76NI1	VKIND_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)	10	1648	+		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)	543			KIND 2.		B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	ENST00000304613.3	37	c.1627G>A	CCDS7674.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	1.067	-0.671207	0.03403	2.27E-4	3.49E-4	ENSG00000171798	ENST00000304613;ENST00000368572;ENST00000368571	T;T;T	0.32272	1.46;1.46;1.46	4.63	-5.31	0.02730	KIND (2);	0.976965	0.08346	N	0.960109	T	0.13415	0.0325	N	0.15975	0.35	0.09310	N	1	B;B	0.17465	0.022;0.005	B;B	0.09377	0.004;0.002	T	0.28138	-1.0053	10	0.27082	T	0.32	-20.5636	5.616	0.17432	0.5361:0.0:0.2633:0.2006	.	478;543	Q76NI1-2;Q76NI1	.;VKIND_HUMAN	I	543;543;478	ENSP00000304437:V543I;ENSP00000357561:V543I;ENSP00000357560:V478I	ENSP00000304437:V543I	V	+	1	0	KNDC1	134859208	0.000000	0.05858	0.002000	0.10522	0.026000	0.11368	-0.398000	0.07259	-0.658000	0.05366	-0.692000	0.03713	GTC		0.687	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		10	9	0	0	0	1	0	10	9				
PCDHGA1	56114	broad.mit.edu	37	5	140712045	140712045	+	Silent	SNP	G	G	A	rs369957326		TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr5:140712045G>A	ENST00000517417.1	+	1	1794	c.1794G>A	c.(1792-1794)tcG>tcA	p.S598S	PCDHGA1_ENST00000378105.3_Silent_p.S598S	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	598	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAGAGACTCGGGCCAGAACG	0.706																																						ENST00000517417.1																			0				breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78						c.(1792-1794)tcG>tcA									26.0	34.0	31.0					5																	140712045		2188	4288	6476	SO:0001819	synonymous_variant	56114							g.chr5:140712045G>A	AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"""Cadherins / Protocadherins : Clustered"""	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.1794G>A	5.37:g.140712045G>A						PCDHGA1_ENST00000378105.3_Silent_p.S598S	p.S598S	NM_018912.2	NP_061735.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1794	+								Q2M273|Q9Y5D6	Silent	SNP	ENST00000517417.1	37	c.1794G>A	CCDS54922.1																																																																																				0.706	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912		42	39	0	0	0	1	0	42	39				
OSGIN1	29948	broad.mit.edu	37	16	83992930	83992930	+	Missense_Mutation	SNP	G	G	A	rs374108349		TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr16:83992930G>A	ENST00000343939.2	+	4	765	c.382G>A	c.(382-384)Gat>Aat	p.D128N	OSGIN1_ENST00000393306.1_Missense_Mutation_p.D45N|OSGIN1_ENST00000565123.1_Missense_Mutation_p.D45N|OSGIN1_ENST00000361711.3_Missense_Mutation_p.D45N			Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	128					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of cell growth (GO:0030308)|positive regulation of apoptotic process (GO:0043065)		growth factor activity (GO:0008083)			autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						CACGAAGCCAGATGCCATCCA	0.657																																						ENST00000343939.2																			0				autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						c.(382-384)Gat>Aat		oxidative stress induced growth inhibitor 1							130.0	111.0	118.0					16																	83992930		2200	4300	6500	SO:0001583	missense	29948				cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity	g.chr16:83992930G>A	AY258066	CCDS10939.1	16q23.3	2010-11-23			ENSG00000140961	ENSG00000140961			30093	protein-coding gene	gene with protein product	"""bone marrow stromal cell-derived growth inhibitor"", ""pregnancy induced growth inhibitor"""	607975				11459809, 14570898	Standard	NM_182981		Approved	BDGI, OKL38	uc002fhc.3	Q9UJX0	OTTHUMG00000137640	ENST00000343939.2:c.382G>A	16.37:g.83992930G>A	ENSP00000343376:p.Asp128Asn					OSGIN1_ENST00000393306.1_Missense_Mutation_p.D45N|OSGIN1_ENST00000361711.3_Missense_Mutation_p.D45N|OSGIN1_ENST00000565123.1_Missense_Mutation_p.D45N	p.D128N			Q9UJX0	OSGI1_HUMAN			4	765	+			128					Q52M33|Q86UQ1|Q96S88|Q9BZ70	Missense_Mutation	SNP	ENST00000343939.2	37	c.382G>A		.	.	.	.	.	.	.	.	.	.	G	13.43	2.233570	0.39498	.	.	ENSG00000140961	ENST00000343939;ENST00000361711;ENST00000393306	T;T;T	0.40476	1.03;1.03;1.03	4.66	4.66	0.58398	.	0.175195	0.49305	D	0.000158	T	0.32971	0.0847	N	0.16656	0.425	0.18873	N	0.999981	P	0.50272	0.933	P	0.46479	0.518	T	0.17653	-1.0362	10	0.46703	T	0.11	-22.503	13.1348	0.59403	0.0:0.1746:0.8254:0.0	.	128	Q9UJX0	OSGI1_HUMAN	N	128;45;45	ENSP00000343376:D128N;ENSP00000355374:D45N;ENSP00000376983:D45N	ENSP00000343376:D128N	D	+	1	0	OSGIN1	82550431	0.928000	0.31464	0.005000	0.12908	0.103000	0.19146	4.759000	0.62227	2.147000	0.66899	0.205000	0.17691	GAT		0.657	OSGIN1-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000269081.1	NM_013370		22	42	0	0	0	1	0	22	42				
ARHGEF9	23229	broad.mit.edu	37	X	62898400	62898400	+	Missense_Mutation	SNP	C	C	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chrX:62898400C>T	ENST00000253401.6	-	5	1414	c.614G>A	c.(613-615)tGc>tAc	p.C205Y	ARHGEF9_ENST00000495564.1_5'UTR|ARHGEF9_ENST00000374878.1_Missense_Mutation_p.C203Y|ARHGEF9_ENST00000437457.2_Missense_Mutation_p.C152Y|ARHGEF9_ENST00000433323.2_5'Flank|ARHGEF9_ENST00000374870.4_Missense_Mutation_p.C103Y|ARHGEF9_ENST00000374872.1_Missense_Mutation_p.C184Y	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	205	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|ion transmembrane transport (GO:0034220)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						GAGCTCCATGCAAGCATCCAG	0.463																																						ENST00000253401.6																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						c.(613-615)tGc>tAc		Cdc42 guanine nucleotide exchange factor (GEF) 9							75.0	58.0	64.0					X																	62898400		2203	4300	6503	SO:0001583	missense	23229				apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chrX:62898400C>T	AB007884	CCDS35315.1, CCDS55429.1, CCDS55430.1	Xq11.1	2013-01-10			ENSG00000131089	ENSG00000131089		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14561	protein-coding gene	gene with protein product	"""collybistin"""	300429				10559246, 9455477	Standard	NM_015185		Approved	KIAA0424, PEM-2	uc011mot.2	O43307	OTTHUMG00000021700	ENST00000253401.6:c.614G>A	X.37:g.62898400C>T	ENSP00000253401:p.Cys205Tyr					ARHGEF9_ENST00000374870.4_Missense_Mutation_p.C103Y|ARHGEF9_ENST00000495564.1_5'UTR|ARHGEF9_ENST00000437457.2_Missense_Mutation_p.C152Y|ARHGEF9_ENST00000374872.1_Missense_Mutation_p.C184Y|ARHGEF9_ENST00000374878.1_Missense_Mutation_p.C203Y	p.C205Y	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN			5	1414	-			205			DH.		A8K1S8|B4DHC7|F8W7P8|Q5JSL6	Missense_Mutation	SNP	ENST00000253401.6	37	c.614G>A	CCDS35315.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.937315	0.73557	.	.	ENSG00000131089	ENST00000253401;ENST00000374878;ENST00000437457;ENST00000374870;ENST00000374872	T;T;T;T;T	0.62364	0.03;0.03;0.03;0.03;0.03	5.08	5.08	0.68730	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.78387	0.4275	M	0.71581	2.175	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.996;0.996;0.996;0.996	T	0.81420	-0.0941	10	0.87932	D	0	.	16.0426	0.80695	0.0:1.0:0.0:0.0	.	152;203;205;205	B4DHC7;B1AMR4;O43307;A8K1S8	.;.;ARHG9_HUMAN;.	Y	205;203;152;103;184	ENSP00000253401:C205Y;ENSP00000364012:C203Y;ENSP00000399994:C152Y;ENSP00000364004:C103Y;ENSP00000364006:C184Y	ENSP00000253401:C205Y	C	-	2	0	ARHGEF9	62815125	1.000000	0.71417	1.000000	0.80357	0.779000	0.44077	7.201000	0.77847	2.087000	0.62958	0.600000	0.82982	TGC		0.463	ARHGEF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056937.1			11	9	0	0	0	1	0	11	9				
SMTNL1	219537	broad.mit.edu	37	11	57313477	57313477	+	Silent	SNP	G	G	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr11:57313477G>A	ENST00000399154.2	+	5	930	c.930G>A	c.(928-930)caG>caA	p.Q310Q	SMTNL1_ENST00000457912.1_Silent_p.Q365Q|SMTNL1_ENST00000527972.1_Silent_p.Q347Q			A8MU46	SMTL1_HUMAN	smoothelin-like 1	310					negative regulation of vasodilation (GO:0045908)|positive regulation of vasoconstriction (GO:0045907)	contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						CCCGGGCACAGAACCGCAAAG	0.667																																						ENST00000457912.1																			0				endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						c.(1093-1095)caG>caA		smoothelin-like 1							24.0	29.0	28.0					11																	57313477		1865	4109	5974	SO:0001819	synonymous_variant	219537							g.chr11:57313477G>A	BX116227		11q12.1	2006-02-02				ENSG00000214872			32394	protein-coding gene	gene with protein product	"""calponin homology-associated smooth muscle protein"""	613664				15327999	Standard	NM_001105565		Approved	CHASM	uc021qjh.1	A8MU46		ENST00000399154.2:c.930G>A	11.37:g.57313477G>A						SMTNL1_ENST00000399154.2_Silent_p.Q310Q|SMTNL1_ENST00000527972.1_Silent_p.Q347Q	p.Q365Q			E9PPJ3	E9PPJ3_HUMAN			5	1095	+			347						Silent	SNP	ENST00000399154.2	37	c.1095G>A																																																																																					0.667	SMTNL1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_166203		8	30	0	0	0	1	0	8	30				
POLR2B	5431	broad.mit.edu	37	4	57860682	57860682	+	Splice_Site	SNP	C	C	G			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr4:57860682C>G	ENST00000381227.1	+	5	769	c.356C>G	c.(355-357)aCg>aGg	p.T119R	POLR2B_ENST00000441246.2_Splice_Site_p.T112R|POLR2B_ENST00000314595.5_Splice_Site_p.T119R|snoU13_ENST00000459266.1_RNA|POLR2B_ENST00000431623.2_Splice_Site_p.T44R			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	119					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonucleoside binding (GO:0032549)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					AGGAATCTCACGTAAGAAAGA	0.353																																						ENST00000381227.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52						c.e5+1		polymerase (RNA) II (DNA directed) polypeptide B, 140kDa							52.0	51.0	51.0					4																	57860682		2203	4299	6502	SO:0001630	splice_region_variant	5431				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	g.chr4:57860682C>G		CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315		"""RNA polymerase subunits"""	9188	protein-coding gene	gene with protein product		180661	"""polymerase (RNA) II (DNA directed) polypeptide B (140kD)"""			1518060, 8034326	Standard	NM_000938		Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	ENST00000381227.1:c.356+1C>G	4.37:g.57860682C>G						POLR2B_ENST00000431623.2_Splice_Site_p.T44_splice|POLR2B_ENST00000314595.5_Splice_Site_p.T119_splice|POLR2B_ENST00000441246.2_Splice_Site_p.T112_splice	p.T119_splice			P30876	RPB2_HUMAN			5	769	+	Glioma(25;0.08)|all_neural(26;0.181)		119					A8K1A8|Q8IZ61	Splice_Site	SNP	ENST00000381227.1	37	c.356_splice	CCDS3511.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.642198	0.87859	.	.	ENSG00000047315	ENST00000381227;ENST00000431623;ENST00000441246;ENST00000314595	T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04	5.48	5.48	0.80851	RNA polymerase, beta subunit, protrusion (1);	0.000000	0.85682	D	0.000000	D	0.92424	0.7595	H	0.96365	3.81	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94248	0.7491	10	0.87932	D	0	.	19.7113	0.96096	0.0:1.0:0.0:0.0	.	44;119	C9J4M6;P30876	.;RPB2_HUMAN	R	119;44;112;119	ENSP00000370625:T119R;ENSP00000391096:T44R;ENSP00000391452:T112R;ENSP00000312735:T119R	ENSP00000312735:T119R	T	+	2	0	POLR2B	57555439	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	7.643000	0.83403	2.740000	0.93945	0.563000	0.77884	ACG		0.353	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250692.1	NM_000938	Missense_Mutation	11	26	0	0	0	1	0	11	26				
NR1I3	9970	broad.mit.edu	37	1	161202965	161202965	+	Missense_Mutation	SNP	C	C	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr1:161202965C>A	ENST00000367982.4	-	4	557	c.402G>T	c.(400-402)caG>caT	p.Q134H	NR1I3_ENST00000511676.1_Missense_Mutation_p.Q105H|NR1I3_ENST00000515621.1_Missense_Mutation_p.Q59H|NR1I3_ENST00000502985.1_Intron|NR1I3_ENST00000442691.2_Missense_Mutation_p.Q134H|NR1I3_ENST00000367980.2_Missense_Mutation_p.Q134H|NR1I3_ENST00000505005.1_Missense_Mutation_p.Q134H|NR1I3_ENST00000367983.4_Missense_Mutation_p.Q134H|NR1I3_ENST00000508387.1_Intron|NR1I3_ENST00000367985.3_Missense_Mutation_p.Q134H|NR1I3_ENST00000512372.1_Missense_Mutation_p.Q105H|NR1I3_ENST00000504010.1_Missense_Mutation_p.Q105H|NR1I3_ENST00000367984.4_Missense_Mutation_p.Q134H|NR1I3_ENST00000511944.1_Intron|NR1I3_ENST00000479324.1_5'Flank|NR1I3_ENST00000437437.2_Missense_Mutation_p.Q105H|NR1I3_ENST00000367979.2_Missense_Mutation_p.Q134H|NR1I3_ENST00000506209.1_Missense_Mutation_p.Q105H|NR1I3_ENST00000508740.1_Missense_Mutation_p.Q105H|NR1I3_ENST00000428574.2_Missense_Mutation_p.Q134H|NR1I3_ENST00000412844.2_Missense_Mutation_p.Q105H|NR1I3_ENST00000511748.1_Intron|NR1I3_ENST00000515452.1_Missense_Mutation_p.Q134H|NR1I3_ENST00000367981.3_Missense_Mutation_p.Q105H			Q14994	NR1I3_HUMAN	nuclear receptor subfamily 1, group I, member 3	134					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor activity (GO:0004882)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TCACCCTAAACTGCACAAACT	0.517																																						ENST00000367983.4																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15						c.(400-402)caG>caT		nuclear receptor subfamily 1, group I, member 3							149.0	150.0	149.0					1																	161202965		2203	4300	6503	SO:0001583	missense	9970				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding	g.chr1:161202965C>A	Z30425	CCDS1228.1, CCDS41427.1, CCDS41428.1, CCDS41429.1, CCDS41430.1, CCDS44260.1, CCDS44261.1, CCDS44262.1, CCDS53405.1, CCDS53406.1, CCDS53407.1, CCDS53408.1, CCDS53409.1, CCDS53410.1, CCDS53411.1	1q23.3	2013-01-16			ENSG00000143257	ENSG00000143257		"""Nuclear hormone receptors"""	7969	protein-coding gene	gene with protein product	"""constitutive androstane receptor"""	603881				8114692	Standard	NM_001077480		Approved	MB67, CAR1, CAR	uc001fzp.3	Q14994	OTTHUMG00000034347	ENST00000367982.4:c.402G>T	1.37:g.161202965C>A	ENSP00000356961:p.Gln134His					NR1I3_ENST00000367982.4_Missense_Mutation_p.Q134H|NR1I3_ENST00000412844.2_Missense_Mutation_p.Q105H|NR1I3_ENST00000367984.4_Missense_Mutation_p.Q134H|NR1I3_ENST00000367981.3_Missense_Mutation_p.Q105H|NR1I3_ENST00000442691.2_Missense_Mutation_p.Q134H|NR1I3_ENST00000367979.2_Missense_Mutation_p.Q134H|NR1I3_ENST00000428574.2_Missense_Mutation_p.Q134H|NR1I3_ENST00000502985.1_Intron|NR1I3_ENST00000367980.2_Missense_Mutation_p.Q134H|NR1I3_ENST00000508387.1_Intron|NR1I3_ENST00000506209.1_Missense_Mutation_p.Q105H|NR1I3_ENST00000504010.1_Missense_Mutation_p.Q105H|NR1I3_ENST00000505005.1_Missense_Mutation_p.Q134H|NR1I3_ENST00000511748.1_Intron|NR1I3_ENST00000515621.1_Missense_Mutation_p.Q59H|NR1I3_ENST00000367985.3_Missense_Mutation_p.Q134H|NR1I3_ENST00000511944.1_Intron|NR1I3_ENST00000437437.2_Missense_Mutation_p.Q105H|NR1I3_ENST00000508740.1_Missense_Mutation_p.Q105H|NR1I3_ENST00000512372.1_Missense_Mutation_p.Q105H|NR1I3_ENST00000511676.1_Missense_Mutation_p.Q105H|NR1I3_ENST00000515452.1_Missense_Mutation_p.Q134H	p.Q134H			Q14994	NR1I3_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		4	696	-	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		134					E9PB75|E9PC13|E9PDU3|E9PGH6|E9PH10|E9PHC8|E9PHN4|F1D8Q0|F1D8Q1|Q0VAC9|Q4U0F0|Q5VTW5|Q5VTW6|Q6GZ68|Q6GZ76|Q6GZ77|Q6GZ78|Q6GZ79|Q6GZ82|Q6GZ83|Q6GZ84|Q6GZ85|Q6GZ87|Q6GZ89	Missense_Mutation	SNP	ENST00000367982.4	37	c.402G>T	CCDS41430.1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.710927	0.30322	.	.	ENSG00000143257	ENST00000512372;ENST00000367983;ENST00000367980;ENST00000437437;ENST00000442691;ENST00000412844;ENST00000428574;ENST00000505005;ENST00000508740;ENST00000367982;ENST00000504010;ENST00000511676;ENST00000367981;ENST00000515621;ENST00000367984;ENST00000367985;ENST00000367979;ENST00000506209;ENST00000515452	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.95482	-3.72;-3.72;-3.72;-3.72;-3.72;-3.72;-3.72;-3.72;-3.72;-3.72;-3.72;-3.72;-3.72;-3.72;-3.72;-3.72;-3.72;-3.72;-3.72	6.06	0.392	0.16288	Nuclear hormone receptor, ligand-binding (2);	1.043440	0.07459	N	0.900234	D	0.87390	0.6165	M	0.66939	2.045	0.41501	D	0.988282	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.16166	0.001;0.003;0.002;0.001;0.002;0.001;0.0;0.001;0.006;0.0;0.0;0.001;0.016;0.001;0.006;0.0;0.001;0.006	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.14023	0.003;0.007;0.005;0.002;0.004;0.004;0.002;0.005;0.005;0.002;0.001;0.003;0.01;0.005;0.007;0.001;0.002;0.005	T	0.72491	-0.4277	9	0.41790	T	0.15	.	3.3768	0.07241	0.2835:0.3898:0.2456:0.0811	.	134;105;105;134;134;134;134;134;134;134;59;105;105;105;105;105;105;134	B7Z8R7;E9PCF2;E9PHN4;Q6GZ85;E9PHC8;Q0VAC9;F1D8Q1;Q14994;E9PC13;Q4U0F0;D6REZ7;Q6GZ87;E9PDU3;Q6GZ68;E9PH10;Q6GZ84;E9PGH6;E9PB75	.;.;.;.;.;.;.;NR1I3_HUMAN;.;.;.;.;.;.;.;.;.;.	H	105;134;134;105;134;105;134;134;105;134;105;105;105;59;134;134;134;105;134	ENSP00000425417:Q105H;ENSP00000356962:Q134H;ENSP00000356959:Q134H;ENSP00000407446:Q105H;ENSP00000406493:Q134H;ENSP00000399361:Q105H;ENSP00000412672:Q134H;ENSP00000424934:Q134H;ENSP00000423666:Q105H;ENSP00000356961:Q134H;ENSP00000424345:Q105H;ENSP00000427175:Q105H;ENSP00000356960:Q105H;ENSP00000421588:Q59H;ENSP00000356963:Q134H;ENSP00000356965:Q134H;ENSP00000356958:Q134H;ENSP00000423089:Q105H;ENSP00000427034:Q134H	ENSP00000356958:Q134H	Q	-	3	2	NR1I3	159469589	0.906000	0.30813	0.976000	0.42696	0.724000	0.41520	-0.310000	0.08135	-0.165000	0.10908	-0.885000	0.02943	CAG		0.517	NR1I3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083048.2			6	262	1	0	1.26484e-09	1	1.39483e-09	6	262				
OR5M10	390167	broad.mit.edu	37	11	56345134	56345134	+	Missense_Mutation	SNP	C	C	G			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr11:56345134C>G	ENST00000526812.2	-	1	129	c.64G>C	c.(64-66)Gtg>Ctg	p.V22L		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	22						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						TTCTCTAGCACTGGGTCGTCT	0.458																																						ENST00000526812.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						c.(64-66)Gtg>Ctg		olfactory receptor, family 5, subfamily M, member 10							166.0	155.0	159.0					11																	56345134		1915	4137	6052	SO:0001583	missense	390167				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56345134C>G	BK004515	CCDS53630.1	11q11	2012-08-09				ENSG00000254834		"""GPCR / Class A : Olfactory receptors"""	15290	protein-coding gene	gene with protein product							Standard	NM_001004741		Approved		uc001niz.1	Q6IEU7		ENST00000526812.2:c.64G>C	11.37:g.56345134C>G	ENSP00000436004:p.Val22Leu						p.V22L	NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN			1	129	-			22					B9EIL9	Missense_Mutation	SNP	ENST00000526812.2	37	c.64G>C	CCDS53630.1	.	.	.	.	.	.	.	.	.	.	C	10.44	1.349497	0.24426	.	.	ENSG00000254834	ENST00000526812	T	0.00433	7.43	4.04	-0.366	0.12545	.	.	.	.	.	T	0.00241	0.0007	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.36986	-0.9725	9	0.72032	D	0.01	.	5.5704	0.17194	0.0:0.3137:0.4239:0.2624	.	22	Q6IEU7	OR5MA_HUMAN	L	22	ENSP00000436004:V22L	ENSP00000436004:V22L	V	-	1	0	OR5M10	56101710	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.686000	0.05161	-0.151000	0.11176	-0.192000	0.12808	GTG		0.458	OR5M10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391609.1	NM_001004741		48	76	0	0	0	1	0	48	76				
FLG	2312	broad.mit.edu	37	1	152276071	152276071	+	Nonsense_Mutation	SNP	G	G	C			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr1:152276071G>C	ENST00000368799.1	-	3	11326	c.11291C>G	c.(11290-11292)tCa>tGa	p.S3764*	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3764	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)			TCCTCTCCTTGACCCCGGGTG	0.597									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.(11290-11292)tCa>tGa		filaggrin							366.0	358.0	361.0					1																	152276071		2203	4300	6503	SO:0001587	stop_gained	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.chr1:152276071G>C	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.11291C>G	1.37:g.152276071G>C	ENSP00000357789:p.Ser3764*					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.S3764*	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	11326	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3764			Ser-rich.		Q01720|Q5T583|Q9UC71	Nonsense_Mutation	SNP	ENST00000368799.1	37	c.11291C>G	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	50	17.183077	0.99881	.	.	ENSG00000143631	ENST00000368799	.	.	.	3.16	3.16	0.36331	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-1.2001	9.9928	0.41881	0.0:0.0:1.0:0.0	.	.	.	.	X	3764	.	ENSP00000357789:S3764X	S	-	2	0	FLG	150542695	0.001000	0.12720	0.004000	0.12327	0.023000	0.10783	0.278000	0.18753	1.766000	0.52107	0.552000	0.68991	TCA		0.597	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		199	367	0	0	0	1	0	199	367				
FAT3	120114	broad.mit.edu	37	11	92531594	92531594	+	Missense_Mutation	SNP	C	C	A	rs368524503		TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr11:92531594C>A	ENST00000298047.6	+	9	5432	c.5415C>A	c.(5413-5415)agC>agA	p.S1805R	FAT3_ENST00000525166.1_Missense_Mutation_p.S1655R|FAT3_ENST00000409404.2_Missense_Mutation_p.S1805R			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1805	Cadherin 16. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATGCTGACAGCAACCGGAATG	0.483										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(5413-5415)agC>agA		FAT atypical cadherin 3							31.0	32.0	32.0					11																	92531594		1959	4161	6120	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92531594C>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.5415C>A	11.37:g.92531594C>A	ENSP00000298047:p.Ser1805Arg	TCGA Ovarian(4;0.039)				FAT3_ENST00000525166.1_Missense_Mutation_p.S1655R|FAT3_ENST00000409404.2_Missense_Mutation_p.S1805R	p.S1805R			Q8TDW7	FAT3_HUMAN			9	5432	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	1805			Cadherin 16.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.5415C>A		.	.	.	.	.	.	.	.	.	.	C	0.220	-1.029606	0.02045	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.51817	0.69;0.69;0.69	5.93	0.244	0.15507	.	.	.	.	.	T	0.34716	0.0907	L	0.39898	1.24	0.80722	D	1	B	0.14805	0.011	B	0.14023	0.01	T	0.14839	-1.0458	9	0.14656	T	0.56	.	12.4221	0.55525	0.0:0.6036:0.0:0.3964	.	1805	Q8TDW7-3	.	R	1805;1805;1655	ENSP00000298047:S1805R;ENSP00000387040:S1805R;ENSP00000432586:S1655R	ENSP00000298047:S1805R	S	+	3	2	FAT3	92171242	0.009000	0.17119	0.996000	0.52242	0.990000	0.78478	-1.012000	0.03649	0.122000	0.18314	-0.229000	0.12294	AGC		0.483	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		9	21	1	0	0.000274275	1	0.000286602	9	21				
ARRDC2	27106	broad.mit.edu	37	19	18121448	18121448	+	Silent	SNP	G	G	A	rs145370397		TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr19:18121448G>A	ENST00000222250.4	+	7	1223	c.1080G>A	c.(1078-1080)ccG>ccA	p.P360P	ARRDC2_ENST00000379656.3_Silent_p.P355P	NM_015683.1	NP_056498.1	Q8TBH0	ARRD2_HUMAN	arrestin domain containing 2	360					signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)	12						GCCCCTTCCCGCTTCCGCAGG	0.637																																						ENST00000222250.4																			0				endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)	12						c.(1078-1080)ccG>ccA		arrestin domain containing 2		G	,	0,4406		0,0,2203	64.0	65.0	65.0		1065,1080	-8.5	0.0	19	dbSNP_134	65	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ARRDC2	NM_001025604.1,NM_015683.1	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	355/403,360/408	18121448	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	27106							g.chr19:18121448G>A		CCDS12370.1, CCDS32956.1	19p13.12	2008-02-05				ENSG00000105643			25225	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015683		Approved	CLONE24945, PP2703	uc002nhv.3	Q8TBH0		ENST00000222250.4:c.1080G>A	19.37:g.18121448G>A						ARRDC2_ENST00000379656.2_Silent_p.P355P	p.P360P	NM_015683.1	NP_056498.1	Q8TBH0	ARRD2_HUMAN			7	1223	+			360					B2RBG9|O95895|Q6ZRV9|Q8WYG6	Silent	SNP	ENST00000222250.4	37	c.1080G>A	CCDS12370.1																																																																																				0.637	ARRDC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466845.1	NM_015683		42	63	0	0	0	1	0	42	63				
ARID1B	57492	broad.mit.edu	37	6	157521890	157521890	+	Missense_Mutation	SNP	G	G	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr6:157521890G>A	ENST00000350026.5	+	17	4124	c.4123G>A	c.(4123-4125)Gag>Aag	p.E1375K	ARID1B_ENST00000275248.4_Missense_Mutation_p.E1370K|ARID1B_ENST00000367148.1_Missense_Mutation_p.E1428K|ARID1B_ENST00000346085.5_Missense_Mutation_p.E1388K	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1375					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CAAGCGCCACGAGGGCGACAT	0.552																																						ENST00000346085.5																			0				NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81						c.(4162-4164)Gag>Aag		AT rich interactive domain 1B (SWI1-like)							63.0	66.0	65.0					6																	157521890		2203	4296	6499	SO:0001583	missense	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157521890G>A	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.4123G>A	6.37:g.157521890G>A	ENSP00000055163:p.Glu1375Lys					ARID1B_ENST00000367148.1_Missense_Mutation_p.E1428K|ARID1B_ENST00000350026.5_Missense_Mutation_p.E1375K|ARID1B_ENST00000275248.4_Missense_Mutation_p.E1370K	p.E1388K	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	18	4163	+		Breast(66;0.000162)|Ovarian(120;0.0265)	1375					Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	ENST00000350026.5	37	c.4162G>A	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	G	15.45	2.837268	0.50951	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000414678	T;T;T;T;T	0.02631	4.6;4.51;4.58;4.58;4.22	4.88	4.01	0.46588	.	0.000000	0.85682	D	0.000000	T	0.01940	0.0061	M	0.62723	1.935	0.80722	D	1	B;B;B	0.32526	0.257;0.374;0.374	B;B;B	0.29942	0.051;0.109;0.109	T	0.44221	-0.9342	10	0.52906	T	0.07	.	13.2071	0.59803	0.0771:0.0:0.9229:0.0	.	1375;1388;1370	Q8NFD5;Q8NFD5-2;G3XAA0	ARI1B_HUMAN;.;.	K	1388;1375;1428;1370;897	ENSP00000344546:E1388K;ENSP00000055163:E1375K;ENSP00000356116:E1428K;ENSP00000275248:E1370K;ENSP00000412835:E897K	ENSP00000275248:E1370K	E	+	1	0	ARID1B	157563582	1.000000	0.71417	0.950000	0.38849	0.530000	0.34684	9.420000	0.97426	1.181000	0.42912	0.655000	0.94253	GAG		0.552	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		26	109	0	0	0	1	0	26	109				
NUPL1	9818	broad.mit.edu	37	13	25901152	25901152	+	Missense_Mutation	SNP	A	A	C			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr13:25901152A>C	ENST00000381736.3	+	11	1380	c.1130A>C	c.(1129-1131)aAt>aCt	p.N377T	NUPL1_ENST00000463407.1_Missense_Mutation_p.N377T|NUPL1_ENST00000381718.3_Missense_Mutation_p.N365T|NUPL1_ENST00000466694.1_3'UTR	NM_001008564.1|NM_014089.3	NP_001008564.1|NP_054808.1	Q9BVL2	NUPL1_HUMAN	nucleoporin like 1	377	14 X 2 AA repeats of F-G.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	nucleocytoplasmic transporter activity (GO:0005487)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		CAAGCAAATAATTCACATATA	0.363																																					Pancreas(166;1040 2004 4560 4728 37041)|GBM(109;1045 1520 7614 9308 19618)	ENST00000463407.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16						c.(1129-1131)aAt>aCt		nucleoporin like 1							112.0	112.0	112.0					13																	25901152		2203	4300	6503	SO:0001583	missense	9818				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore		g.chr13:25901152A>C	AB007870	CCDS9314.1, CCDS31949.1	13q12.12	2011-04-12			ENSG00000139496	ENSG00000139496			20261	protein-coding gene	gene with protein product		607615				9455477	Standard	NM_014089		Approved	KIAA0410	uc001uqi.3	Q9BVL2	OTTHUMG00000016608	ENST00000381736.3:c.1130A>C	13.37:g.25901152A>C	ENSP00000371155:p.Asn377Thr					NUPL1_ENST00000381736.3_Missense_Mutation_p.N377T|NUPL1_ENST00000466694.1_3'UTR|NUPL1_ENST00000381718.3_Missense_Mutation_p.N365T	p.N377T			Q9BVL2	NUPL1_HUMAN		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)	11	1273	+		Lung SC(185;0.0225)|Breast(139;0.0351)	377			14 X 2 AA repeats of F-G.		A6NI12|B4DZJ1|O43160|Q5JRG2|Q5JRG5	Missense_Mutation	SNP	ENST00000381736.3	37	c.1130A>C	CCDS9314.1	.	.	.	.	.	.	.	.	.	.	A	10.09	1.253724	0.22965	.	.	ENSG00000139496	ENST00000381736;ENST00000381745;ENST00000313619;ENST00000463407;ENST00000381718;ENST00000381747;ENST00000394327	T;T;T;T;T	0.46063	1.47;1.48;1.44;1.46;0.88	5.32	5.32	0.75619	.	0.138006	0.64402	D	0.000002	T	0.34454	0.0898	L	0.47716	1.5	0.40517	D	0.98079	B;B;B	0.31680	0.335;0.111;0.291	B;B;B	0.31751	0.135;0.088;0.039	T	0.17440	-1.0369	10	0.25106	T	0.35	-10.0665	10.0134	0.42001	0.9237:0.0:0.0763:0.0	.	365;377;377	A6NI12;Q9BVL2;Q9BVL2-2	.;NUPL1_HUMAN;.	T	377;365;354;377;365;377;324	ENSP00000371155:N377T;ENSP00000418555:N377T;ENSP00000371137:N365T;ENSP00000371166:N377T;ENSP00000408147:N324T	ENSP00000318459:N354T	N	+	2	0	NUPL1	24799152	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.198000	0.77823	2.135000	0.66039	0.482000	0.46254	AAT		0.363	NUPL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044228.2			50	114	0	0	0	1	0	50	114				
XKR5	389610	broad.mit.edu	37	8	6690390	6690390	+	RNA	SNP	C	C	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr8:6690390C>A	ENST00000518724.1	-	0	241				GS1-24F4.2_ENST00000500823.2_lincRNA			Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		AGAAGCCGTCCTGTGGTGAAG	0.597																																						ENST00000518724.1																			0				endometrium(1)|large_intestine(1)|lung(1)	3								XK, Kell blood group complex subunit-related family, member 5							40.0	49.0	46.0					8																	6690390		2022	4186	6208			389610					integral to membrane		g.chr8:6690390C>A	AY358489		8p23.1	2006-01-12	2006-01-12		ENSG00000186530	ENSG00000275591			20782	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 5"""				Standard	NM_207411		Approved		uc022aqv.1	Q6UX68	OTTHUMG00000153652		8.37:g.6690390C>A										Q6UX68	XKR5_HUMAN	STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)	0	241	-								Q5GH74	RNA	SNP	ENST00000518724.1	37																																																																																						0.597	XKR5-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000331969.2	NM_207411		12	10	1	0	3.07112e-06	1	3.30827e-06	12	10				
LRP2	4036	broad.mit.edu	37	2	170042307	170042307	+	Missense_Mutation	SNP	C	C	G			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr2:170042307C>G	ENST00000263816.3	-	50	9836	c.9551G>C	c.(9550-9552)cGa>cCa	p.R3184P		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3184	EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	ATCTGGTTCTCGGAGGTAGCC	0.423																																						ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(9550-9552)cGa>cCa		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						134.0	139.0	137.0					2																	170042307		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170042307C>G		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.9551G>C	2.37:g.170042307C>G	ENSP00000263816:p.Arg3184Pro						p.R3184P	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	50	9836	-			3184			EGF-like 12; calcium-binding (Potential).		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.9551G>C	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.044029	0.93685	.	.	ENSG00000081479	ENST00000263816	D	0.81821	-1.54	5.97	5.97	0.96955	Growth factor, receptor (1);EGF-like region, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	T	0.79021	0.4376	N	0.02539	-0.55	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.84759	0.0761	10	0.51188	T	0.08	.	20.4388	0.99107	0.0:1.0:0.0:0.0	.	3184	P98164	LRP2_HUMAN	P	3184	ENSP00000263816:R3184P	ENSP00000263816:R3184P	R	-	2	0	LRP2	169750553	1.000000	0.71417	0.987000	0.45799	0.998000	0.95712	7.818000	0.86416	2.836000	0.97738	0.655000	0.94253	CGA		0.423	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		54	139	0	0	0	1	0	54	139				
SLC29A1	2030	broad.mit.edu	37	6	44195012	44195012	+	5'UTR	SNP	G	G	A	rs375683637		TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr6:44195012G>A	ENST00000393841.1	+	0	453				SLC29A1_ENST00000371731.1_5'UTR|SLC29A1_ENST00000371724.1_5'UTR|SLC29A1_ENST00000371755.3_5'UTR|SLC29A1_ENST00000371708.1_5'UTR|SLC29A1_ENST00000393844.1_5'UTR|SLC29A1_ENST00000313248.7_Missense_Mutation_p.G67R|SLC29A1_ENST00000371740.5_5'UTR|SLC29A1_ENST00000371713.1_5'UTR|SLC29A1_ENST00000427851.2_5'UTR	NM_001078177.1	NP_001071645.1	Q99808	S29A1_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 1						cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|lactation (GO:0007595)|nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sleep (GO:0030431)|transmembrane transport (GO:0055085)|uridine transport (GO:0015862)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Cytarabine(DB00987)|Didanosine(DB00900)|Fludarabine(DB01073)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Pemetrexed(DB00642)|Ribavirin(DB00811)|Zalcitabine(DB00943)	CCCTGAGGGAGGGAGCTGTCA	0.637																																						ENST00000313248.7																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17						c.(199-201)Ggg>Agg		solute carrier family 29 (equilibrative nucleoside transporter), member 1	Troglitazone(DB00197)						81.0	63.0	69.0					6																	44195012		2203	4300	6503	SO:0001623	5_prime_UTR_variant	2030				nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction	nucleoside transmembrane transporter activity|protein binding	g.chr6:44195012G>A	U81375	CCDS4908.1	6p21.1	2013-07-17	2013-07-17		ENSG00000112759	ENSG00000112759		"""Solute carriers"""	11003	protein-coding gene	gene with protein product		602193	"""solute carrier family 29 (nucleoside transporters), member 1"""	ENT1		8986748, 9344680	Standard	NM_004955		Approved		uc003owy.2	Q99808	OTTHUMG00000014759	ENST00000393841.1:c.-39G>A	6.37:g.44195012G>A						SLC29A1_ENST00000371713.1_5'UTR|SLC29A1_ENST00000371731.1_5'UTR|SLC29A1_ENST00000371740.5_5'UTR|SLC29A1_ENST00000427851.2_5'UTR|SLC29A1_ENST00000371708.1_5'UTR|SLC29A1_ENST00000393841.1_5'UTR|SLC29A1_ENST00000371724.1_5'UTR|SLC29A1_ENST00000371755.3_5'UTR|SLC29A1_ENST00000393844.1_5'UTR	p.G67R			Q99808	S29A1_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		3	260	+	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		0					B3KQV7|B3KQY5|Q5T9W9|Q9UJY2	Missense_Mutation	SNP	ENST00000393841.1	37	c.199G>A	CCDS4908.1	.	.	.	.	.	.	.	.	.	.	G	12.90	2.077281	0.36662	.	.	ENSG00000112759	ENST00000313248	T	0.73897	-0.79	4.69	1.58	0.23477	.	.	.	.	.	T	0.30166	0.0756	.	.	.	0.19775	N	0.999956	B	0.09022	0.002	B	0.06405	0.002	T	0.12553	-1.0543	8	0.20519	T	0.43	.	2.9888	0.05977	0.0993:0.1772:0.541:0.1825	.	67	B3KQV7	.	R	67	ENSP00000319152:G67R	ENSP00000319152:G67R	G	+	1	0	SLC29A1	44302990	0.988000	0.35896	0.035000	0.18076	0.256000	0.26092	0.822000	0.27352	0.628000	0.30357	0.655000	0.94253	GGG		0.637	SLC29A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040721.1			8	19	0	0	0	1	0	8	19				
SPATA31C1	441452	broad.mit.edu	37	9	90535912	90535912	+	RNA	SNP	C	C	G			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr9:90535912C>G	ENST00000602681.1	+	0	1816							P0DKV0	S31C1_HUMAN	SPATA31 subfamily C, member 1						cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GGCCCATCTTCAATCCTCTTT	0.552																																						ENST00000602681.1																			0																				25.0	23.0	24.0					9																	90535912		692	1580	2272			441452							g.chr9:90535912C>G	AK093374		9q22.1	2014-03-18	2012-10-12	2012-10-12	ENSG00000230246	ENSG00000230246			27846	other	unknown			"""family with sequence similarity 75, member C1"""	FAM75C1			Standard	NM_001145124		Approved	FLJ36055	uc010mqi.3	P0DKV0	OTTHUMG00000020160		9.37:g.90535912C>G														0	1816	+									RNA	SNP	ENST00000602681.1	37																																																																																						0.552	SPATA31C1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467313.1	NM_001145124		114	128	0	0	0	1	0	114	128				
CST5	1473	broad.mit.edu	37	20	23860158	23860158	+	Silent	SNP	G	G	A	rs202048792	byFrequency	TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr20:23860158G>A	ENST00000304710.4	-	1	229	c.156C>T	c.(154-156)atC>atT	p.I52I		NM_001900.4	NP_001891.2	P28325	CYTD_HUMAN	cystatin D	52					negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11						TGTACTCGCTGATGGCAAAGT	0.582													g|||	3	0.000599042	0.0023	0.0	5008	,	,		17319	0.0		0.0	False		,,,				2504	0.0					ENST00000304710.4																			0				breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11						c.(154-156)atC>atT		cystatin D		G		2,4404	4.2+/-10.8	0,2,2201	214.0	194.0	201.0		156	-4.0	0.0	20		201	0,8600		0,0,4300	no	coding-synonymous	CST5	NM_001900.4		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		52/143	23860158	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	1473					extracellular region	cysteine-type endopeptidase inhibitor activity|protein binding	g.chr20:23860158G>A		CCDS13162.1	20p11.21	2008-04-15			ENSG00000170367	ENSG00000170367			2477	protein-coding gene	gene with protein product		123858				1939105	Standard	NM_001900		Approved		uc002wtr.1	P28325	OTTHUMG00000032089	ENST00000304710.4:c.156C>T	20.37:g.23860158G>A							p.I52I	NM_001900.4	NP_001891.2	P28325	CYTD_HUMAN			1	229	-			52					Q5JRF5|Q9UCA0	Silent	SNP	ENST00000304710.4	37	c.156C>T	CCDS13162.1																																																																																				0.582	CST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078355.2	NM_001900		58	246	0	0	0	1	0	58	246				
CFTR	1080	broad.mit.edu	37	7	117232542	117232542	+	Missense_Mutation	SNP	C	C	T	rs397508364		TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr7:117232542C>T	ENST00000003084.6	+	14	2453	c.2321C>T	c.(2320-2322)aCa>aTa	p.T774I	CFTR_ENST00000454343.1_Missense_Mutation_p.T713I	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	774					cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	AACCTGATGACACACTCAGTT	0.527									Cystic Fibrosis																													ENST00000003084.6																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69						c.(2320-2322)aCa>aTa		cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	Bumetanide(DB00887)|Glibenclamide(DB01016)						84.0	64.0	71.0					7																	117232542		2203	4300	6503	SO:0001583	missense	1080	Cystic Fibrosis	Familial Cancer Database	CF	respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding	g.chr7:117232542C>T	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"""Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators"", ""ATP binding cassette transporters / subfamily C"""	1884	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family C, member 7"""	602421	"""cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"""	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.2321C>T	7.37:g.117232542C>T	ENSP00000003084:p.Thr774Ile					CFTR_ENST00000454343.1_Missense_Mutation_p.T713I	p.T774I	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	STAD - Stomach adenocarcinoma(10;0.000534)		14	2453	+	Lung NSC(10;0.00148)|all_lung(10;0.00171)		774					Q20BG8|Q20BH2|Q2I0A1|Q2I102	Missense_Mutation	SNP	ENST00000003084.6	37	c.2321C>T	CCDS5773.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.792221	0.90453	.	.	ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809	D;D;D	0.97232	-4.3;-4.3;-4.3	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.98529	0.9509	M	0.83603	2.65	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98900	1.0776	10	0.54805	T	0.06	-18.7463	19.4938	0.95064	0.0:1.0:0.0:0.0	.	774	P13569	CFTR_HUMAN	I	774;713;744	ENSP00000003084:T774I;ENSP00000403677:T713I;ENSP00000389119:T744I	ENSP00000003084:T774I	T	+	2	0	CFTR	117019778	1.000000	0.71417	0.959000	0.39883	0.892000	0.51952	6.882000	0.75589	2.666000	0.90696	0.655000	0.94253	ACA		0.527	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	NM_000492		4	41	0	0	0	1	0	4	41				
SP1	6667	broad.mit.edu	37	12	53804967	53804967	+	Missense_Mutation	SNP	C	C	G			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr12:53804967C>G	ENST00000327443.4	+	6	2399	c.2301C>G	c.(2299-2301)atC>atG	p.I767M	SP1_ENST00000426431.2_Missense_Mutation_p.I760M	NM_001251825.1|NM_138473.2	NP_001238754.1|NP_612482.2	P08047	SP1_HUMAN	Sp1 transcription factor	767	Domain D.|VZV IE62-binding.				cellular lipid metabolic process (GO:0044255)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|gene expression (GO:0010467)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|ossification (GO:0001503)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)	bHLH transcription factor binding (GO:0043425)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|histone deacetylase binding (GO:0042826)|HMG box domain binding (GO:0071837)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		ACAGTGGCATCAACGTCATGC	0.547																																						ENST00000426431.2																			0				breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5						c.(2278-2280)atC>atG		Sp1 transcription factor							105.0	87.0	93.0					12																	53804967		2203	4300	6503	SO:0001583	missense	6667				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:53804967C>G	J03133	CCDS8857.1, CCDS44898.1	12q13.1	2013-01-08						"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11205	protein-coding gene	gene with protein product	"""specificity protein 1"""	189906				1662663	Standard	NM_003109		Approved		uc001scw.3	P08047	OTTHUMG00000170047	ENST00000327443.4:c.2301C>G	12.37:g.53804967C>G	ENSP00000329357:p.Ile767Met					SP1_ENST00000327443.4_Missense_Mutation_p.I767M	p.I760M	NM_003109.1	NP_003100.1	P08047	SP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.00527)	6	2340	+			767			Domain D.|VZV IE62-binding.		E4Z9M7|G5E9M8|Q86TN8|Q9H3Q5|Q9NR51|Q9NY21|Q9NYE7	Missense_Mutation	SNP	ENST00000327443.4	37	c.2280C>G	CCDS8857.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.416557	0.42918	.	.	ENSG00000185591	ENST00000327443;ENST00000426431	T;T	0.09073	3.05;3.02	5.04	4.16	0.48862	.	0.000000	0.56097	D	0.000022	T	0.10551	0.0258	L	0.27053	0.805	0.43073	D	0.994712	D	0.54772	0.968	P	0.53360	0.724	T	0.05484	-1.0882	10	0.87932	D	0	.	7.9516	0.30019	0.1589:0.7586:0.0:0.0824	.	767	P08047	SP1_HUMAN	M	767;760	ENSP00000329357:I767M;ENSP00000404263:I760M	ENSP00000329357:I767M	I	+	3	3	SP1	52091234	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.910000	0.48766	1.508000	0.48769	-0.251000	0.11542	ATC		0.547	SP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407044.1			16	63	0	0	0	1	0	16	63				
FEZF1	389549	broad.mit.edu	37	7	121943748	121943748	+	Silent	SNP	G	G	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr7:121943748G>A	ENST00000442488.2	-	1	811	c.744C>T	c.(742-744)ttC>ttT	p.F248F	FEZF1_ENST00000427185.2_Silent_p.F198F|FEZF1-AS1_ENST00000428449.1_RNA|FEZF1-AS1_ENST00000437317.1_RNA|FEZF1_ENST00000331178.4_Silent_p.F248F	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	248					axon guidance (GO:0007411)|forebrain anterior/posterior pattern specification (GO:0021797)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						AGCCTCGGCTGAAATCCGAGG	0.493																																						ENST00000442488.2																			0				breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						c.(742-744)ttC>ttT		FEZ family zinc finger 1							120.0	131.0	127.0					7																	121943748		2203	4300	6503	SO:0001819	synonymous_variant	389549				cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:121943748G>A	AY726588	CCDS34741.1, CCDS34741.2, CCDS55157.1	7q31.32	2013-01-08	2006-08-15	2006-08-15	ENSG00000128610	ENSG00000128610		"""Zinc fingers, C2H2-type"""	22788	protein-coding gene	gene with protein product		613301	"""zinc finger protein 312B"""	ZNF312B			Standard	NM_001024613		Approved		uc003vkd.3	A0PJY2	OTTHUMG00000157091	ENST00000442488.2:c.744C>T	7.37:g.121943748G>A						FEZF1_ENST00000331178.4_Silent_p.F248F|FEZF1_ENST00000427185.2_Silent_p.F198F|FEZF1-AS1_ENST00000428449.1_RNA	p.F248F	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN			1	811	-			248					A0PJY3|A4D0W3|B4DUP9|B7ZM98	Silent	SNP	ENST00000442488.2	37	c.744C>T	CCDS34741.2																																																																																				0.493	FEZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347410.1	NM_001024613		50	75	0	0	0	1	0	50	75				
ACTR5	79913	broad.mit.edu	37	20	37396227	37396227	+	Silent	SNP	G	G	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr20:37396227G>T	ENST00000243903.4	+	8	1591	c.1554G>T	c.(1552-1554)cgG>cgT	p.R518R		NM_024855.3	NP_079131.3	Q9H9F9	ARP5_HUMAN	ARP5 actin-related protein 5 homolog (yeast)	518					DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|UV-damage excision repair (GO:0070914)	cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)				kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12		Myeloproliferative disorder(115;0.00878)				GACCCTTCCGGTCTTCTTTTC	0.408																																						ENST00000243903.4																			0				kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12						c.(1552-1554)cgG>cgT		ARP5 actin-related protein 5 homolog (yeast)							102.0	89.0	93.0					20																	37396227		2203	4300	6503	SO:0001819	synonymous_variant	79913				DNA recombination|double-strand break repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent|UV-damage excision repair	cytoplasm|Ino80 complex	ATP binding|protein binding	g.chr20:37396227G>T	AK022847	CCDS13308.1	20q12	2011-07-06	2001-11-28		ENSG00000101442	ENSG00000101442		"""INO80 complex subunits"""	14671	protein-coding gene	gene with protein product	"""INO80 complex subunit M"""		"""ARP5 (actin-related protein 5, yeast) homolog"""			16230350	Standard	NM_024855		Approved	FLJ12785, Arp5, INO80M	uc002xjd.2	Q9H9F9	OTTHUMG00000032456	ENST00000243903.4:c.1554G>T	20.37:g.37396227G>T							p.R518R	NM_024855.3	NP_079131.3	Q9H9F9	ARP5_HUMAN			8	1591	+		Myeloproliferative disorder(115;0.00878)	518					Q86WF7|Q8IUY5|Q8N724|Q9BRN0|Q9BVB7	Silent	SNP	ENST00000243903.4	37	c.1554G>T	CCDS13308.1																																																																																				0.408	ACTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079205.2	NM_024855		56	84	1	0	3.8688e-20	1	4.37003e-20	56	84				
GFPT2	9945	broad.mit.edu	37	5	179763530	179763530	+	Nonsense_Mutation	SNP	G	G	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr5:179763530G>A	ENST00000253778.8	-	3	332	c.163C>T	c.(163-165)Cag>Tag	p.Q55*		NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	55	Glutamine amidotransferase type-2. {ECO:0000255|PROSITE-ProRule:PRU00609}.				carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glutamine metabolic process (GO:0006541)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	TTGACCAGCTGAATGTGTCTT	0.488																																						ENST00000253778.8																			0				breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34						c.(163-165)Cag>Tag		glutamine-fructose-6-phosphate transaminase 2	L-Glutamine(DB00130)						243.0	251.0	249.0					5																	179763530		1987	4178	6165	SO:0001587	stop_gained	9945				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding	g.chr5:179763530G>A	AB016789	CCDS43411.1	5q	2008-07-18			ENSG00000131459	ENSG00000131459			4242	protein-coding gene	gene with protein product	"""glutamine: fructose-6-phosphate aminotransferase 2"""	603865				10198162	Standard	NM_005110		Approved	GFAT2	uc003mlw.1	O94808	OTTHUMG00000163442	ENST00000253778.8:c.163C>T	5.37:g.179763530G>A	ENSP00000253778:p.Gln55*						p.Q55*	NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	332	-	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	55			Glutamine amidotransferase type-2.		Q53XM2|Q9BWS4	Nonsense_Mutation	SNP	ENST00000253778.8	37	c.163C>T	CCDS43411.1	.	.	.	.	.	.	.	.	.	.	G	19.25	3.790856	0.70452	.	.	ENSG00000131459	ENST00000253778	.	.	.	6.17	5.24	0.73138	.	0.519518	0.24076	N	0.041780	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-13.0339	14.1263	0.65222	0.0:0.0:0.7854:0.2146	.	.	.	.	X	55	.	.	Q	-	1	0	GFPT2	179696136	1.000000	0.71417	1.000000	0.80357	0.271000	0.26615	1.941000	0.40233	2.941000	0.99782	0.655000	0.94253	CAG		0.488	GFPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373444.4	NM_005110		17	241	0	0	0	1	0	17	241				
FAM21C	253725	broad.mit.edu	37	10	46248143	46248143	+	Missense_Mutation	SNP	G	G	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr10:46248143G>A	ENST00000336378.4	+	12	1229	c.1111G>A	c.(1111-1113)Gag>Aag	p.E371K	FAM21C_ENST00000540872.1_Missense_Mutation_p.E371K|FAM21C_ENST00000374362.2_Missense_Mutation_p.E371K|FAM21C_ENST00000537517.1_Missense_Mutation_p.E347K|FAM21C_ENST00000359860.4_Missense_Mutation_p.E315K	NM_015262.2	NP_056077.2	Q9Y4E1	FA21C_HUMAN	family with sequence similarity 21, member C	371					retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome (GO:0005768)|plasma membrane (GO:0005886)|WASH complex (GO:0071203)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						ATTTGATGATGAGGACGAGGA	0.567																																						ENST00000336378.4																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(1111-1113)Gag>Aag		family with sequence similarity 21, member C							87.0	99.0	95.0					10																	46248143		1901	4111	6012	SO:0001583	missense	253725							g.chr10:46248143G>A		CCDS44374.1, CCDS44374.2, CCDS53528.1, CCDS53529.1	10q11.22	2014-05-09			ENSG00000172661	ENSG00000172661			23414	protein-coding gene	gene with protein product		613631				20498093	Standard	NM_015262		Approved	Em:AC012044.3, KIAA0592	uc001jcu.3	Q9Y4E1	OTTHUMG00000018089	ENST00000336378.4:c.1111G>A	10.37:g.46248143G>A	ENSP00000337541:p.Glu371Lys					FAM21C_ENST00000537517.1_Missense_Mutation_p.E347K|FAM21C_ENST00000540872.1_Missense_Mutation_p.E371K|FAM21C_ENST00000374362.2_Missense_Mutation_p.E371K|FAM21C_ENST00000359860.4_Missense_Mutation_p.E315K	p.E371K	NM_015262.2	NP_056077.2	A8K5W5	A8K5W5_HUMAN			12	1229	+			371					B4DZQ6|B9EK53|F5H0J6|F5H871|Q5SQU4|Q5SQU5|Q7L521|Q9UG79	Missense_Mutation	SNP	ENST00000336378.4	37	c.1111G>A		.	.	.	.	.	.	.	.	.	.	G	18.11	3.550081	0.65311	.	.	ENSG00000172661	ENST00000336378;ENST00000540872;ENST00000537517;ENST00000374362;ENST00000399588;ENST00000359860;ENST00000436993	.	.	.	3.52	3.52	0.40303	.	0.239815	0.47852	D	0.000206	T	0.52108	0.1714	M	0.70595	2.14	0.33535	D	0.594164	P;P;P;P	0.45176	0.787;0.852;0.852;0.825	B;B;B;B	0.42593	0.359;0.392;0.392;0.371	T	0.66575	-0.5889	9	0.30854	T	0.27	-7.6763	12.9281	0.58272	0.0:0.0:1.0:0.0	.	347;371;371;316	F5H871;Q9Y4E1-4;Q9Y4E1;Q9Y4E1-3	.;.;FA21C_HUMAN;.	K	371;371;347;371;371;315;283	.	ENSP00000337541:E371K	E	+	1	0	FAM21C	45568149	1.000000	0.71417	0.978000	0.43139	0.916000	0.54674	7.936000	0.87665	1.957000	0.56846	0.603000	0.83216	GAG		0.567	FAM21C-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				32	147	0	0	0	1	0	32	147				
TRPV2	51393	broad.mit.edu	37	17	16342900	16342900	+	IGR	SNP	G	G	A	rs11540320		TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr17:16342900G>A	ENST00000338560.7	+	0	2808				C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000365172.1_RNA|C17orf76-AS1_ENST00000581913.1_RNA|C17orf76-AS1_ENST00000477249.2_RNA|C17orf76-AS1_ENST00000481027.1_RNA|C17orf76-AS1_ENST00000492250.1_RNA|C17orf76-AS1_ENST00000475947.2_RNA|C17orf76-AS1_ENST00000391079.1_RNA|C17orf76-AS1_ENST00000578380.2_RNA|C17orf76-AS1_ENST00000478103.2_RNA|C17orf76-AS1_ENST00000579473.1_RNA|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000481898.1_RNA|C17orf76-AS1_ENST00000484836.1_RNA|C17orf76-AS1_ENST00000582911.1_RNA|RP11-138I1.3_ENST00000585048.1_lincRNA|C17orf76-AS1_ENST00000480811.1_RNA|C17orf76-AS1_ENST00000475953.1_RNA|C17orf76-AS1_ENST00000472367.1_RNA|C17orf76-AS1_ENST00000584926.1_RNA|C17orf76-AS1_ENST00000491009.1_RNA|C17orf76-AS1_ENST00000384229.1_RNA|C17orf76-AS1_ENST00000487066.1_RNA|C17orf76-AS1_ENST00000460249.1_RNA|C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000583400.2_RNA|C17orf76-AS1_ENST00000483140.1_RNA|C17orf76-AS1_ENST00000470491.2_RNA|C17orf76-AS1_ENST00000584141.1_RNA|C17orf76-AS1_ENST00000580180.1_RNA	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2						calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|positive regulation of axon extension (GO:0045773)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|response to temperature stimulus (GO:0009266)|sensory perception (GO:0007600)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|growth cone membrane (GO:0032584)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|ion channel activity (GO:0005216)|ion transmembrane transporter activity (GO:0015075)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CGCAGTCGCTGAAACCTCTAC	0.478																																						ENST00000475953.1																			0																				169.0	159.0	162.0					17																	16342900		1568	3582	5150	SO:0001628	intergenic_variant	125144							g.chr17:16342900G>A	AF129112	CCDS32576.1	17p11.2	2013-01-10			ENSG00000187688	ENSG00000187688		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18082	protein-coding gene	gene with protein product		606676				10201375, 16382100	Standard	NM_016113		Approved	VRL, VRL-1, VRL1	uc002gpy.3	Q9Y5S1	OTTHUMG00000058989		17.37:g.16342900G>A						C17orf76-AS1_ENST00000478103.2_RNA|C17orf76-AS1_ENST00000583400.2_RNA|C17orf76-AS1_ENST00000472367.1_RNA|C17orf76-AS1_ENST00000477249.2_RNA|C17orf76-AS1_ENST00000475947.2_RNA|C17orf76-AS1_ENST00000582911.1_RNA|C17orf76-AS1_ENST00000581913.1_RNA|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000470491.2_RNA|C17orf76-AS1_ENST00000492250.1_RNA|C17orf76-AS1_ENST00000491009.1_RNA|C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000580180.1_RNA|C17orf76-AS1_ENST00000584926.1_RNA|C17orf76-AS1_ENST00000579473.1_RNA|C17orf76-AS1_ENST00000460249.1_RNA|C17orf76-AS1_ENST00000584141.1_RNA|C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000578380.2_RNA|C17orf76-AS1_ENST00000481027.1_RNA|C17orf76-AS1_ENST00000487066.1_RNA|C17orf76-AS1_ENST00000481898.1_RNA|C17orf76-AS1_ENST00000483140.1_RNA|C17orf76-AS1_ENST00000480811.1_RNA|C17orf76-AS1_ENST00000484836.1_RNA		NR_027667.1						0	370	+								A6NML2|A8K0Z0|Q9Y670	RNA	SNP	ENST00000338560.7	37		CCDS32576.1																																																																																				0.478	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130464.2	NM_016113		32	190	0	0	0	1	0	32	190				
ABCA13	154664	broad.mit.edu	37	7	48559723	48559723	+	Nonsense_Mutation	SNP	C	C	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr7:48559723C>A	ENST00000435803.1	+	53	13908	c.13884C>A	c.(13882-13884)tgC>tgA	p.C4628*	ABCA13_ENST00000544596.1_Nonsense_Mutation_p.C358*	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4628					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TAGAACTCTGCTATAATCAGA	0.413																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(13882-13884)tgC>tgA		ATP-binding cassette, sub-family A (ABC1), member 13							127.0	115.0	119.0					7																	48559723		1873	4107	5980	SO:0001587	stop_gained	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48559723C>A	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.13884C>A	7.37:g.48559723C>A	ENSP00000411096:p.Cys4628*					ABCA13_ENST00000544596.1_Nonsense_Mutation_p.C358*	p.C4628*	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			53	13908	+			4628					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Nonsense_Mutation	SNP	ENST00000435803.1	37	c.13884C>A	CCDS47584.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	53|53	21.212896|21.212896	0.99938|0.99938	.|.	.|.	ENSG00000179869|ENSG00000179869	ENST00000435803;ENST00000411975;ENST00000544596|ENST00000435451	.|.	.|.	.|.	5.36|5.36	-7.64|-7.64	0.01286|0.01286	.|.	0.000000|.	0.53938|.	D|.	0.000049|.	.|T	.|0.34454	.|0.0898	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.42682	.|-0.9437	.|3	0.22706|.	T|.	0.39|.	.|.	10.3087|10.3087	0.43695|0.43695	0.0958:0.6117:0.0975:0.195|0.0958:0.6117:0.0975:0.195	.|.	.|.	.|.	.|.	X|I	4628;401;358|149	.|.	ENSP00000391042:C401X|.	C|L	+|+	3|1	2|2	ABCA13|ABCA13	48530269|48530269	0.095000|0.095000	0.21747|0.21747	0.854000|0.854000	0.33618|0.33618	0.993000|0.993000	0.82548|0.82548	-0.960000|-0.960000	0.03849|0.03849	-1.297000|-1.297000	0.02351|0.02351	-0.302000|-0.302000	0.09304|0.09304	TGC|CTA		0.413	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		8	36	1	0	1.12685e-05	1	1.20456e-05	8	36				
FAM134C	162427	broad.mit.edu	37	17	40734139	40734139	+	Missense_Mutation	SNP	C	C	G			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr17:40734139C>G	ENST00000309428.5	-	9	1152	c.1093G>C	c.(1093-1095)Gag>Cag	p.E365Q	FAM134C_ENST00000585894.1_Missense_Mutation_p.E268Q|FAM134C_ENST00000543197.1_Missense_Mutation_p.E170Q	NM_178126.3	NP_835227.1	Q86VR2	F134C_HUMAN	family with sequence similarity 134, member C	365						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	11		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.134)		TGGGGCTCCTCAGCCCCTGGC	0.607																																						ENST00000309428.5																			0				endometrium(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	11						c.(1093-1095)Gag>Cag		family with sequence similarity 134, member C							59.0	63.0	62.0					17																	40734139		2203	4300	6503	SO:0001583	missense	162427					integral to membrane		g.chr17:40734139C>G	BC049370	CCDS11432.1	17q21.2	2007-05-01							27258	protein-coding gene	gene with protein product						12477932	Standard	NM_178126		Approved	DKFZp686B1036, FLJ33806	uc002ial.2	Q86VR2		ENST00000309428.5:c.1093G>C	17.37:g.40734139C>G	ENSP00000309432:p.Glu365Gln					FAM134C_ENST00000543197.1_Missense_Mutation_p.E170Q|FAM134C_ENST00000585894.1_Missense_Mutation_p.E268Q	p.E365Q	NM_178126.3	NP_835227.1	Q86VR2	F134C_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.134)	9	1152	-		Breast(137;0.00116)	365					B3KR75	Missense_Mutation	SNP	ENST00000309428.5	37	c.1093G>C	CCDS11432.1	.	.	.	.	.	.	.	.	.	.	C	3.710	-0.059790	0.07317	.	.	ENSG00000141699	ENST00000309428;ENST00000543197	T;T	0.44482	0.92;0.92	5.9	2.53	0.30540	.	0.820238	0.11712	N	0.536838	T	0.20414	0.0491	N	0.02011	-0.69	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.12218	-1.0556	10	0.29301	T	0.29	-15.3991	15.6553	0.77129	0.0:0.6297:0.3703:0.0	.	365	Q86VR2	F134C_HUMAN	Q	365;170	ENSP00000309432:E365Q;ENSP00000446235:E170Q	ENSP00000309432:E365Q	E	-	1	0	FAM134C	37987665	0.000000	0.05858	0.185000	0.23176	0.513000	0.34164	0.629000	0.24538	1.465000	0.48006	0.563000	0.77884	GAG		0.607	FAM134C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450536.1	NM_178126		31	66	0	0	0	1	0	31	66				
DESI1	27351	broad.mit.edu	37	22	41997127	41997127	+	Missense_Mutation	SNP	C	C	T	rs375150048		TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr22:41997127C>T	ENST00000263256.6	-	6	737	c.481G>A	c.(481-483)Gtg>Atg	p.V161M	DESI1_ENST00000463886.1_5'Flank	NM_015704.2	NP_056519.1	Q6ICB0	DESI1_HUMAN	desumoylating isopeptidase 1	161						cytoplasm (GO:0005737)|nucleus (GO:0005634)	peptidase activity (GO:0008233)										GGTCTGCCCACGGAGCTCCCT	0.577																																						ENST00000263256.6																			0											c.(481-483)Gtg>Atg		desumoylating isopeptidase 1		C	MET/VAL	0,4406		0,0,2203	35.0	36.0	36.0		481	-0.1	0.2	22		36	1,8599	1.2+/-3.3	0,1,4299	no	missense	PPPDE2	NM_015704.2	21	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	161/169	41997127	1,13005	2203	4300	6503	SO:0001583	missense	27351							g.chr22:41997127C>T	AF038183	CCDS33652.1	22q13.2	2012-05-16	2012-05-16	2012-05-16	ENSG00000100418	ENSG00000100418			24577	protein-coding gene	gene with protein product		614637	"""family with sequence similarity 152, member B"", ""PPPDE peptidase domain containing 2"""	FAM152B, PPPDE2		8619474, 9110174, 22370726	Standard	NM_015704		Approved	D15Wsu75e	uc003bam.2	Q6ICB0	OTTHUMG00000044632	ENST00000263256.6:c.481G>A	22.37:g.41997127C>T	ENSP00000263256:p.Val161Met						p.V161M	NM_015704.2	NP_056519.1	Q6ICB0	PPDE2_HUMAN			6	737	-			161						Missense_Mutation	SNP	ENST00000263256.6	37	c.481G>A	CCDS33652.1	.	.	.	.	.	.	.	.	.	.	C	12.75	2.030981	0.35797	0.0	1.16E-4	ENSG00000100418	ENST00000263256	.	.	.	5.94	-0.117	0.13551	.	0.269662	0.42964	N	0.000623	T	0.12475	0.0303	N	0.03608	-0.345	0.24790	N	0.992769	B	0.14438	0.01	B	0.01281	0.0	T	0.14337	-1.0476	9	0.32370	T	0.25	-1.7232	4.5681	0.12196	0.2795:0.3874:0.0:0.3332	.	161	Q6ICB0	PPDE2_HUMAN	M	161	.	ENSP00000263256:V161M	V	-	1	0	PPPDE2	40327073	0.595000	0.26857	0.162000	0.22713	0.952000	0.60782	0.851000	0.27751	0.129000	0.18514	0.563000	0.77884	GTG		0.577	DESI1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000104124.3	NM_015704		3	17	0	0	0	1	0	3	17				
SPTBN5	51332	broad.mit.edu	37	15	42168797	42168797	+	Missense_Mutation	SNP	C	C	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr15:42168797C>A	ENST00000320955.6	-	20	4127	c.3900G>T	c.(3898-3900)caG>caT	p.Q1300H		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1300					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CACTCCTCCCCTGGAGCCTGG	0.652																																						ENST00000320955.6																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62						c.(3898-3900)caG>caT		spectrin, beta, non-erythrocytic 5							29.0	33.0	31.0					15																	42168797		2050	4187	6237	SO:0001583	missense	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42168797C>A	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.3900G>T	15.37:g.42168797C>A	ENSP00000317790:p.Gln1300His						p.Q1300H	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)	20	4127	-		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	1300						Missense_Mutation	SNP	ENST00000320955.6	37	c.3900G>T		.	.	.	.	.	.	.	.	.	.	.	10.36	1.327493	0.24080	.	.	ENSG00000137877	ENST00000320955	T	0.51574	0.7	4.96	1.95	0.26073	.	0.494963	0.18824	N	0.130179	T	0.61640	0.2363	M	0.73598	2.24	0.19300	N	0.999979	D	0.76494	0.999	D	0.72982	0.979	T	0.48692	-0.9013	10	0.44086	T	0.13	.	6.7807	0.23643	0.0:0.6784:0.0:0.3216	.	1300	Q9NRC6	SPTN5_HUMAN	H	1300	ENSP00000317790:Q1300H	ENSP00000317790:Q1300H	Q	-	3	2	SPTBN5	39956089	0.000000	0.05858	0.157000	0.22605	0.207000	0.24258	0.103000	0.15292	0.472000	0.27344	0.491000	0.48974	CAG		0.652	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		5	8	1	0	5.9392e-07	1	6.44761e-07	5	8				
SUPT20H	55578	broad.mit.edu	37	13	37598214	37598214	+	Missense_Mutation	SNP	T	T	C			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr13:37598214T>C	ENST00000350612.6	-	19	1769	c.1549A>G	c.(1549-1551)Atg>Gtg	p.M517V	SUPT20H_ENST00000356185.3_Missense_Mutation_p.M518V|SUPT20H_ENST00000360252.4_Missense_Mutation_p.M518V|SUPT20H_ENST00000542180.1_Missense_Mutation_p.M481V|SUPT20H_ENST00000464744.1_Missense_Mutation_p.M518V|SUPT20H_ENST00000475892.1_Missense_Mutation_p.M517V	NM_001014286.2	NP_001014308.2	Q8NEM7	SP20H_HUMAN	suppressor of Ty 20 homolog (S. cerevisiae)	517					autophagy (GO:0006914)|chromatin organization (GO:0006325)|gastrulation (GO:0007369)	SAGA complex (GO:0000124)|SAGA-type complex (GO:0070461)	transcription cofactor activity (GO:0003712)										GGAGAAAGCATGCTAACTTGA	0.403																																						ENST00000360252.4																			0											c.(1552-1554)Atg>Gtg		suppressor of Ty 20 homolog (S. cerevisiae)							157.0	155.0	156.0					13																	37598214		2203	4300	6503	SO:0001583	missense	55578							g.chr13:37598214T>C	AF093250	CCDS9362.1, CCDS31959.1, CCDS61311.1	13q13	2012-11-29	2012-11-29	2012-11-29	ENSG00000102710	ENSG00000102710			20596	protein-coding gene	gene with protein product	"""p38 interacting protein"", ""transcription factor (p38 interacting protein)"""	613417	"""chromosome 13 open reading frame 19"", ""family with sequence similarity 48, member A"""	C13orf19, FAM48A		12070015 , 16685401	Standard	NM_001278480		Approved	SPT20, bA421P11.4, P38IP	uc001uwg.3	Q8NEM7	OTTHUMG00000016747	ENST00000350612.6:c.1549A>G	13.37:g.37598214T>C	ENSP00000218894:p.Met517Val					SUPT20H_ENST00000475892.1_Missense_Mutation_p.M517V|SUPT20H_ENST00000464744.1_Missense_Mutation_p.M518V|SUPT20H_ENST00000542180.1_Missense_Mutation_p.M481V|SUPT20H_ENST00000356185.3_Missense_Mutation_p.M518V|SUPT20H_ENST00000350612.6_Missense_Mutation_p.M517V	p.M518V	NM_001278481.1|NM_001278482.1|NM_017569.3	NP_001265410.1|NP_001265411.1|NP_060039.1					19	1799	-								E7ER46|Q71RF3|Q9Y6A6	Missense_Mutation	SNP	ENST00000350612.6	37	c.1552A>G	CCDS31959.1	.	.	.	.	.	.	.	.	.	.	T	8.758	0.922813	0.18056	.	.	ENSG00000102710	ENST00000360252;ENST00000475892;ENST00000350612;ENST00000356185;ENST00000536874;ENST00000464744;ENST00000542180	T;T;T;T;T;T	0.44482	0.92;1.0;1.5;0.92;0.92;0.97	5.4	4.22	0.49857	.	0.121187	0.56097	D	0.000030	T	0.33673	0.0871	L	0.60455	1.87	0.36300	D	0.856948	B;B;B;B;B;B;B	0.25667	0.0;0.0;0.0;0.05;0.088;0.131;0.088	B;B;B;B;B;B;B	0.21917	0.001;0.001;0.001;0.021;0.034;0.037;0.034	T	0.26360	-1.0105	10	0.16896	T	0.51	-6.0641	7.0786	0.25219	0.1312:0.0719:0.0:0.7969	.	481;517;517;518;518;517;517	B4E2D5;B3KNI1;E7ER46;A8K8L1;Q8NEM7-2;Q8NEM7;F5GX46	.;.;.;.;.;FA48A_HUMAN;.	V	518;517;517;518;517;518;481	ENSP00000353388:M518V;ENSP00000417510:M517V;ENSP00000218894:M517V;ENSP00000348512:M518V;ENSP00000419754:M518V;ENSP00000439000:M481V	ENSP00000218894:M517V	M	-	1	0	FAM48A	36496214	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	3.933000	0.56545	0.886000	0.36113	0.533000	0.62120	ATG		0.403	SUPT20H-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354766.1	NM_017569		25	45	0	0	0	1	0	25	45				
OR5L1	219437	broad.mit.edu	37	11	55579636	55579636	+	Missense_Mutation	SNP	G	G	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr11:55579636G>A	ENST00000333973.2	+	1	783	c.694G>A	c.(694-696)Gag>Aag	p.E232K		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	232						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E232Q(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				GGGCTCTGCAGAGGGCAGGCA	0.517																																						ENST00000333973.2																			1	Substitution - Missense(1)	p.E232Q(1)	prostate(1)	NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78						c.(694-696)Gag>Aag		olfactory receptor, family 5, subfamily L, member 1							186.0	153.0	164.0					11																	55579636		2200	4296	6496	SO:0001583	missense	219437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55579636G>A	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"""GPCR / Class A : Olfactory receptors"""	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.694G>A	11.37:g.55579636G>A	ENSP00000335529:p.Glu232Lys						p.E232K	NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN			1	783	+		all_epithelial(135;0.208)	232					B2RNK6|Q6IFD0	Missense_Mutation	SNP	ENST00000333973.2	37	c.694G>A	CCDS31509.1	.	.	.	.	.	.	.	.	.	.	g	21.4	4.140852	0.77775	.	.	ENSG00000186117	ENST00000333973	T	0.00174	8.62	4.12	0.872	0.19113	GPCR, rhodopsin-like superfamily (1);	0.117848	0.37955	N	0.001874	T	0.00241	0.0007	L	0.41961	1.31	0.09310	N	1	B	0.33919	0.432	P	0.45712	0.491	T	0.28933	-1.0028	10	0.62326	D	0.03	-23.5774	8.5505	0.33449	0.2884:0.0:0.7116:0.0	.	232	Q8NGL2	OR5L1_HUMAN	K	232	ENSP00000335529:E232K	ENSP00000335529:E232K	E	+	1	0	OR5L1	55336212	0.000000	0.05858	0.000000	0.03702	0.911000	0.54048	-0.019000	0.12546	0.178000	0.19917	0.428000	0.28381	GAG		0.517	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	NM_001004738		41	91	0	0	0	1	0	41	91				
FNDC4	64838	broad.mit.edu	37	2	27717517	27717517	+	Silent	SNP	G	G	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr2:27717517G>T	ENST00000264703.3	-	2	421	c.30C>A	c.(28-30)ccC>ccA	p.P10P	GCKR_ENST00000264717.2_5'Flank|GCKR_ENST00000424318.2_5'Flank	NM_022823.2	NP_073734.1	Q9H6D8	FNDC4_HUMAN	fibronectin type III domain containing 4	10						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S11fs*28(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|prostate(1)|skin(1)	9	Acute lymphoblastic leukemia(172;0.155)					GGAGTCCGCTGGGGGGGGAAC	0.647																																						ENST00000264703.3																			1	Insertion - Frameshift(1)	p.S11fs*28(1)	liver(1)	NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|prostate(1)|skin(1)	9						c.(28-30)ccC>ccA		fibronectin type III domain containing 4							13.0	14.0	14.0					2																	27717517		2199	4292	6491	SO:0001819	synonymous_variant	64838					integral to membrane		g.chr2:27717517G>T	AK026015	CCDS1756.1	2p23.3	2013-02-11			ENSG00000115226	ENSG00000115226		"""Fibronectin type III domain containing"""	20239	protein-coding gene	gene with protein product		611905				12384288	Standard	NM_022823		Approved	FLJ22362, FRCP1	uc002rkx.3	Q9H6D8	OTTHUMG00000097787	ENST00000264703.3:c.30C>A	2.37:g.27717517G>T							p.P10P	NM_022823.2	NP_073734.1	Q9H6D8	FNDC4_HUMAN			2	421	-	Acute lymphoblastic leukemia(172;0.155)		10					D6W560	Silent	SNP	ENST00000264703.3	37	c.30C>A	CCDS1756.1																																																																																				0.647	FNDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215031.1	NM_022823		8	12	1	0	1.12685e-05	1	1.20456e-05	8	12				
CERKL	375298	broad.mit.edu	37	2	182413467	182413467	+	Missense_Mutation	SNP	C	C	G			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr2:182413467C>G	ENST00000339098.5	-	8	1090	c.1091G>C	c.(1090-1092)cGa>cCa	p.R364P	CERKL_ENST00000410087.3_Missense_Mutation_p.R338P|CERKL_ENST00000374970.2_Missense_Mutation_p.R269P|CERKL_ENST00000374969.2_Missense_Mutation_p.R225P|CERKL_ENST00000479558.1_5'UTR|CERKL_ENST00000409440.3_Missense_Mutation_p.R320P			Q49MI3	CERKL_HUMAN	ceramide kinase-like	364					negative regulation of apoptotic process (GO:0043066)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			GGACATCCATCGATATTTTTC	0.453																																						ENST00000410087.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32						c.(1012-1014)cGa>cCa		ceramide kinase-like							89.0	90.0	90.0					2																	182413467		2203	4300	6503	SO:0001583	missense	375298				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|Golgi apparatus|nucleolus	diacylglycerol kinase activity	g.chr2:182413467C>G	BC020465	CCDS33340.1, CCDS33341.1, CCDS42789.1, CCDS46466.1, CCDS54425.1	2q31.3	2005-01-04			ENSG00000188452	ENSG00000188452			21699	protein-coding gene	gene with protein product			"""retinitis pigmentosa 26 (autosomal recessive)"""	RP26		14681825	Standard	NR_027689		Approved		uc002uny.3	Q49MI3	OTTHUMG00000154315	ENST00000339098.5:c.1091G>C	2.37:g.182413467C>G	ENSP00000341159:p.Arg364Pro					CERKL_ENST00000374969.2_Missense_Mutation_p.R225P|CERKL_ENST00000374970.2_Missense_Mutation_p.R269P|CERKL_ENST00000339098.5_Missense_Mutation_p.R364P|CERKL_ENST00000479558.1_5'UTR|CERKL_ENST00000409440.3_Missense_Mutation_p.R320P	p.R338P	NM_001030311.2|NM_201548.4	NP_001025482.1|NP_963842.1	Q49MI3	CERKL_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.088)		7	1113	-			364			DAGKc.		B2RPL2|B4DEY1|Q49MH9|Q49MI0|Q49MI1|Q49MI2|Q5DVJ2|Q5DVJ4|Q5DVJ5|Q6UZF6|Q6ZP59	Missense_Mutation	SNP	ENST00000339098.5	37	c.1013G>C	CCDS42789.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.516296	0.85495	.	.	ENSG00000188452	ENST00000410087;ENST00000409440;ENST00000374969;ENST00000339098;ENST00000374970	T;T;T;T;T	0.17528	2.27;2.27;2.27;2.27;2.27	5.62	4.74	0.60224	.	0.062071	0.64402	D	0.000008	T	0.49457	0.1558	M	0.89904	3.07	0.58432	D	0.999994	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;0.998;1.0;1.0	T	0.61173	-0.7116	10	0.87932	D	0	.	14.4465	0.67352	0.0:0.9293:0.0:0.0707	.	320;225;269;338;364	B4DEY1;Q49MI3-4;Q49MI3-3;Q49MI3-2;Q49MI3	.;.;.;.;CERKL_HUMAN	P	338;320;225;364;269	ENSP00000386725:R338P;ENSP00000387080:R320P;ENSP00000364108:R225P;ENSP00000341159:R364P;ENSP00000364109:R269P	ENSP00000341159:R364P	R	-	2	0	CERKL	182121712	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	5.901000	0.69861	1.366000	0.46076	0.655000	0.94253	CGA		0.453	CERKL-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334811.1			11	96	0	0	0	1	0	11	96				
GCSAML	148823	broad.mit.edu	37	1	247719712	247719712	+	Missense_Mutation	SNP	C	C	G			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr1:247719712C>G	ENST00000366488.4	+	2	137	c.33C>G	c.(31-33)tgC>tgG	p.C11W	GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000463359.1_5'UTR|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000536561.1_Intron|GCSAML_ENST00000527084.1_5'UTR	NM_001281836.1|NM_001281837.1|NM_001281853.1|NM_145278.3	NP_001268765.1|NP_001268766.1|NP_001268782.1|NP_660321.1	Q5JQS6	GSAML_HUMAN	germinal center-associated, signaling and motility-like	11																	CATATAGTTGCCTGGGAGAGA	0.368																																						ENST00000366488.4																			0											c.(31-33)tgC>tgG		germinal center-associated, signaling and motility-like							102.0	120.0	114.0					1																	247719712		2203	4300	6503	SO:0001583	missense	148823							g.chr1:247719712C>G	AK126682	CCDS1635.1, CCDS60470.1, CCDS73058.1	1q44	2012-08-23	2012-08-23	2012-08-23	ENSG00000169224	ENSG00000169224			29583	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 150"""	C1orf150			Standard	NM_001281834		Approved	FLJ44728	uc001idf.3	Q5JQS6	OTTHUMG00000040648	ENST00000366488.4:c.33C>G	1.37:g.247719712C>G	ENSP00000355444:p.Cys11Trp					GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000463359.1_5'UTR|GCSAML_ENST00000536561.1_Intron|GCSAML_ENST00000527084.1_5'UTR|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366489.1_Intron	p.C11W	NM_145278.3	NP_660321.1					2	137	+								B2R4Y5|B3KX46|Q5JQT3	Missense_Mutation	SNP	ENST00000366488.4	37	c.33C>G	CCDS1635.1	.	.	.	.	.	.	.	.	.	.	C	10.33	1.319819	0.23994	.	.	ENSG00000169224	ENST00000526896;ENST00000366488	.	.	.	3.0	2.08	0.27032	.	.	.	.	.	T	0.38983	0.1061	N	0.19112	0.55	0.27079	N	0.963135	D	0.89917	1.0	D	0.91635	0.999	T	0.12760	-1.0535	8	0.44086	T	0.13	-5.3558	6.0471	0.19766	0.0:0.8565:0.0:0.1435	.	11	Q5JQS6	CA150_HUMAN	W	11	.	ENSP00000355444:C11W	C	+	3	2	C1orf150	245786335	0.664000	0.27457	0.298000	0.25002	0.592000	0.36648	0.654000	0.24918	0.831000	0.34780	0.491000	0.48974	TGC		0.368	GCSAML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097745.4	NM_145278		8	27	0	0	0	1	0	8	27				
KIAA0226	9711	broad.mit.edu	37	3	197444966	197444966	+	Missense_Mutation	SNP	G	G	A	rs200206166		TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr3:197444966G>A	ENST00000296343.5	-	2	100	c.101C>T	c.(100-102)aCg>aTg	p.T34M	KIAA0226_ENST00000273582.5_De_novo_Start_InFrame|KIAA0226_ENST00000389665.5_Missense_Mutation_p.T34M|KIAA0226_ENST00000449205.1_Missense_Mutation_p.T34M|KIAA0226_ENST00000467303.1_Intron	NM_014687.1	NP_055502.1	Q92622	RUBIC_HUMAN	KIAA0226	34					autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)|negative regulation of autophagy (GO:0010507)|negative regulation of endocytosis (GO:0045806)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)				NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		CTCCACCGTCGTCTTCAAATT	0.502																																					Esophageal Squamous(3;167 355 3763 15924)	ENST00000273582.5																			0				NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31								KIAA0226		G	,MET/THR	1,3951		0,1,1975	96.0	96.0	96.0		,101	5.8	1.0	3		96	0,8322		0,0,4161	no	utr-5,missense	KIAA0226	NM_001145642.2,NM_014687.1	,81	0,1,6136	AA,AG,GG		0.0,0.0253,0.0081	,probably-damaging	,34/973	197444966	1,12273	1976	4161	6137	SO:0001583	missense	9711				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding	g.chr3:197444966G>A	D86979	CCDS43195.1, CCDS46987.1	3q29	2011-08-09			ENSG00000145016	ENSG00000145016			28991	protein-coding gene	gene with protein product	"""RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein"""	613516				9039502, 19270693, 20826435	Standard	XM_005269374		Approved	rubicon, rundataxin	uc003fyc.2	Q92622	OTTHUMG00000155452	ENST00000296343.5:c.101C>T	3.37:g.197444966G>A	ENSP00000296343:p.Thr34Met					KIAA0226_ENST00000389665.5_Missense_Mutation_p.T34M|KIAA0226_ENST00000467303.1_Intron|KIAA0226_ENST00000449205.1_Missense_Mutation_p.T34M|KIAA0226_ENST00000296343.5_Missense_Mutation_p.T34M		NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)	0	466	-	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)							Q96CK5	Translation_Start_Site	SNP	ENST00000296343.5	37		CCDS43195.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.499870	0.85176	2.53E-4	0.0	ENSG00000145016	ENST00000296343;ENST00000389665;ENST00000449205	T;T;T	0.11712	2.75;2.75;2.75	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.24236	0.0587	L	0.27053	0.805	0.54753	D	0.999985	D;D	0.89917	1.0;1.0	D;D	0.74348	0.97;0.983	T	0.01053	-1.1467	10	0.87932	D	0	.	20.0804	0.97772	0.0:0.0:1.0:0.0	.	34;34	E9PEM3;Q92622	.;RUBIC_HUMAN	M	34	ENSP00000296343:T34M;ENSP00000374316:T34M;ENSP00000390962:T34M	ENSP00000296343:T34M	T	-	2	0	KIAA0226	198929363	1.000000	0.71417	0.989000	0.46669	0.654000	0.38779	9.178000	0.94855	2.738000	0.93877	0.655000	0.94253	ACG		0.502	KIAA0226-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340184.1	XM_032901		4	90	0	0	0	1	0	4	90				
HUNK	30811	broad.mit.edu	37	21	33346916	33346916	+	Nonsense_Mutation	SNP	A	A	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr21:33346916A>T	ENST00000270112.2	+	7	1420	c.1060A>T	c.(1060-1062)Aag>Tag	p.K354*	HUNK_ENST00000465574.1_3'UTR	NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	354					multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						CATGACCGAGAAGCTGGGTTA	0.562																																						ENST00000270112.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						c.(1060-1062)Aag>Tag		hormonally up-regulated Neu-associated kinase							132.0	118.0	123.0					21																	33346916		2203	4300	6503	SO:0001587	stop_gained	30811				multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity	g.chr21:33346916A>T	AJ271722	CCDS13610.1	21q22.1	2008-06-05	2008-06-05		ENSG00000142149	ENSG00000142149			13326	protein-coding gene	gene with protein product		606532	"""hormonally upregulated Neu-associated kinase"""			10662544, 10830953	Standard	NM_014586		Approved		uc002yph.3	P57058	OTTHUMG00000085019	ENST00000270112.2:c.1060A>T	21.37:g.33346916A>T	ENSP00000270112:p.Lys354*					HUNK_ENST00000465574.1_3'UTR	p.K354*	NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN			7	1420	+			354						Nonsense_Mutation	SNP	ENST00000270112.2	37	c.1060A>T	CCDS13610.1	.	.	.	.	.	.	.	.	.	.	A	43	10.303030	0.99379	.	.	ENSG00000142149	ENST00000270112	.	.	.	4.51	4.51	0.55191	.	0.295541	0.31145	N	0.008175	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-27.2241	14.3142	0.66437	1.0:0.0:0.0:0.0	.	.	.	.	X	354	.	ENSP00000270112:K354X	K	+	1	0	HUNK	32268787	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	6.227000	0.72282	2.029000	0.59856	0.459000	0.35465	AAG		0.562	HUNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192782.1	NM_014586		38	92	0	0	0	1	0	38	92				
FAM45A	404636	broad.mit.edu	37	10	120877149	120877149	+	Nonsense_Mutation	SNP	C	C	T	rs113664509	byFrequency	TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr10:120877149C>T	ENST00000361432.2	+	4	477	c.451C>T	c.(451-453)Cga>Tga	p.R151*	FAM45A_ENST00000489988.1_3'UTR|FAM45A_ENST00000535029.1_Nonsense_Mutation_p.R151*|FAM45A_ENST00000544016.1_Intron	NM_207009.2	NP_996892.1	Q8TCE6	FA45A_HUMAN	family with sequence similarity 45, member A	151										breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	14		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0293)		TTTTGATGCCCGAAAGGCCTA	0.493																																						ENST00000361432.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	14						c.(451-453)Cga>Tga		family with sequence similarity 45, member A		C	stop/ARG	0,4406		0,0,2203	86.0	89.0	88.0		451	5.0	1.0	10	dbSNP_132	88	2,8598	2.2+/-6.3	0,2,4298	no	stop-gained	FAM45A	NM_207009.2		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		151/358	120877149	2,13004	2203	4300	6503	SO:0001587	stop_gained	404636							g.chr10:120877149C>T	AF168713	CCDS7609.1	10q25	2008-09-04			ENSG00000119979	ENSG00000119979			31793	protein-coding gene	gene with protein product							Standard	NM_207009		Approved			Q8TCE6	OTTHUMG00000019143	ENST00000361432.2:c.451C>T	10.37:g.120877149C>T	ENSP00000354688:p.Arg151*					FAM45A_ENST00000544016.1_Intron|FAM45A_ENST00000489988.1_3'UTR|FAM45A_ENST00000535029.1_Nonsense_Mutation_p.R151*	p.R151*	NM_207009.2	NP_996892.1	Q8TCE6	FA45A_HUMAN		all cancers(201;0.0293)	4	477	+		Lung NSC(174;0.094)|all_lung(145;0.123)	151					B1AMV6|B4DDC3|D3DRC8|Q9NXW4	Nonsense_Mutation	SNP	ENST00000361432.2	37	c.451C>T	CCDS7609.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.980942	0.92982	0.0	2.33E-4	ENSG00000119979	ENST00000535029;ENST00000546291;ENST00000361432	.	.	.	5.87	4.97	0.65823	.	0.061593	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.8565	0.70341	0.1436:0.8564:0.0:0.0	.	.	.	.	X	151	.	ENSP00000354688:R151X	R	+	1	2	FAM45A	120867139	1.000000	0.71417	0.997000	0.53966	0.581000	0.36288	4.094000	0.57721	1.481000	0.48307	0.591000	0.81541	CGA		0.493	FAM45A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050623.1	NM_207009		43	80	0	0	0	1	0	43	80				
PASK	23178	broad.mit.edu	37	2	242054512	242054512	+	Silent	SNP	G	G	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr2:242054512G>A	ENST00000405260.1	-	14	3977	c.3279C>T	c.(3277-3279)ttC>ttT	p.F1093F	PASK_ENST00000475666.1_5'Flank|PASK_ENST00000539818.1_Silent_p.F877F|PASK_ENST00000544142.1_Silent_p.F907F|PASK_ENST00000358649.4_Silent_p.F1093F|PASK_ENST00000403638.3_Silent_p.F1093F|PASK_ENST00000234040.4_Silent_p.F1093F	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	1093	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GGCGGTCGATGAAAGCGAAGA	0.552																																						ENST00000403638.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53						c.(3277-3279)ttC>ttT		PAS domain containing serine/threonine kinase							70.0	76.0	74.0					2																	242054512		2203	4300	6503	SO:0001819	synonymous_variant	23178				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr2:242054512G>A	U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.3279C>T	2.37:g.242054512G>A						PASK_ENST00000234040.4_Silent_p.F1093F|PASK_ENST00000539818.1_Silent_p.F877F|PASK_ENST00000358649.4_Silent_p.F1093F|PASK_ENST00000544142.1_Silent_p.F907F|PASK_ENST00000405260.1_Silent_p.F1093F	p.F1093F	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)	14	3370	-		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	1093			Protein kinase.		G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Silent	SNP	ENST00000405260.1	37	c.3279C>T	CCDS2545.1																																																																																				0.552	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	NM_015148		31	46	0	0	0	1	0	31	46				
ZWILCH	55055	broad.mit.edu	37	15	66812954	66812954	+	Missense_Mutation	SNP	G	G	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr15:66812954G>A	ENST00000307897.5	+	6	927	c.547G>A	c.(547-549)Gaa>Aaa	p.E183K	RPL4_ENST00000564517.1_Intron|ZWILCH_ENST00000535141.2_Missense_Mutation_p.E69K|RPL4_ENST00000568588.1_Intron|ZWILCH_ENST00000565627.1_Missense_Mutation_p.E69K|ZWILCH_ENST00000565960.1_3'UTR|ZWILCH_ENST00000446801.2_Missense_Mutation_p.E69K	NM_017975.3	NP_060445.3	Q9H900	ZWILC_HUMAN	zwilch kinetochore protein	183					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1)	18						TGTAAATCTTGAAAACCTAAA	0.299																																						ENST00000307897.5																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1)	18						c.(547-549)Gaa>Aaa		zwilch kinetochore protein							37.0	37.0	37.0					15																	66812954		2188	4282	6470	SO:0001583	missense	55055				cell division|mitotic cell cycle checkpoint|mitotic prometaphase	condensed chromosome kinetochore|cytosol	protein binding	g.chr15:66812954G>A	AK023175	CCDS10219.1, CCDS73746.1	15q22.31	2013-01-17	2012-12-13		ENSG00000174442	ENSG00000174442			25468	protein-coding gene	gene with protein product		609984	"""Zwilch, kinetochore associated, homolog (Drosophila)"""			12686595	Standard	NM_017975		Approved	FLJ10036, KNTC1AP	uc002aqb.3	Q9H900	OTTHUMG00000133194	ENST00000307897.5:c.547G>A	15.37:g.66812954G>A	ENSP00000311429:p.Glu183Lys					RPL4_ENST00000568588.1_Intron|ZWILCH_ENST00000535141.2_Missense_Mutation_p.E69K|ZWILCH_ENST00000565960.1_3'UTR|ZWILCH_ENST00000565627.1_Missense_Mutation_p.E69K|ZWILCH_ENST00000446801.2_Missense_Mutation_p.E69K|RPL4_ENST00000564517.1_Intron	p.E183K	NM_017975.3	NP_060445.3	Q9H900	ZWILC_HUMAN			6	927	+			183					B3KVB8|Q6N049|Q8N404|Q96SY7|Q9NWG7	Missense_Mutation	SNP	ENST00000307897.5	37	c.547G>A	CCDS10219.1	.	.	.	.	.	.	.	.	.	.	g	32	5.138362	0.94560	.	.	ENSG00000174442	ENST00000307897;ENST00000446801;ENST00000535141	T;T;T	0.44482	0.92;0.92;0.92	5.45	5.45	0.79879	.	0.096141	0.64402	D	0.000001	T	0.64450	0.2599	M	0.69823	2.125	0.48236	D	0.999615	D	0.76494	0.999	D	0.76071	0.987	T	0.62728	-0.6793	10	0.40728	T	0.16	-25.7847	17.848	0.88736	0.0:0.0:1.0:0.0	.	183	Q9H900	ZWILC_HUMAN	K	183;69;69	ENSP00000311429:E183K;ENSP00000402217:E69K;ENSP00000437749:E69K	ENSP00000311429:E183K	E	+	1	0	ZWILCH	64600008	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.938000	0.75904	2.564000	0.86499	0.650000	0.86243	GAA		0.299	ZWILCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256904.4	NM_017975		18	56	0	0	0	1	0	18	56				
ZSWIM4	65249	broad.mit.edu	37	19	13923921	13923921	+	Missense_Mutation	SNP	G	G	C			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr19:13923921G>C	ENST00000254323.2	+	6	1312	c.1123G>C	c.(1123-1125)Gag>Cag	p.E375Q	RN7SL619P_ENST00000581753.1_RNA|ZSWIM4_ENST00000440752.2_Missense_Mutation_p.E92Q	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	375							zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			CCCACTGGAAGAGGGCAACTA	0.632																																						ENST00000254323.2																			0				central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						c.(1123-1125)Gag>Cag		zinc finger, SWIM-type containing 4							48.0	43.0	45.0					19																	13923921		2203	4300	6503	SO:0001583	missense	65249						zinc ion binding	g.chr19:13923921G>C	AK022283	CCDS32924.1	19p13.13	2012-02-23			ENSG00000132003	ENSG00000132003		"""Zinc fingers, SWIM-type"""	25704	protein-coding gene	gene with protein product							Standard	NM_023072		Approved	FLJ12221	uc002mxh.1	Q9H7M6		ENST00000254323.2:c.1123G>C	19.37:g.13923921G>C	ENSP00000254323:p.Glu375Gln					ZSWIM4_ENST00000440752.2_Missense_Mutation_p.E92Q	p.E375Q	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)		6	1312	+			375						Missense_Mutation	SNP	ENST00000254323.2	37	c.1123G>C	CCDS32924.1	.	.	.	.	.	.	.	.	.	.	G	17.40	3.378870	0.61735	.	.	ENSG00000132003	ENST00000254323;ENST00000440752	T;T	0.47177	0.89;0.85	3.64	3.64	0.41730	.	0.000000	0.56097	D	0.000032	T	0.33904	0.0879	N	0.08118	0	0.36675	D	0.878732	P;P	0.52316	0.952;0.939	P;B	0.50352	0.638;0.347	T	0.25257	-1.0137	10	0.17832	T	0.49	-5.4221	13.1609	0.59544	0.0:0.0:1.0:0.0	.	92;375	E7ERX2;Q9H7M6	.;ZSWM4_HUMAN	Q	375;92	ENSP00000254323:E375Q;ENSP00000405278:E92Q	ENSP00000254323:E375Q	E	+	1	0	ZSWIM4	13784921	1.000000	0.71417	0.993000	0.49108	0.325000	0.28411	8.766000	0.91728	2.035000	0.60131	0.297000	0.19635	GAG		0.632	ZSWIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457457.1	XM_031342		12	28	0	0	0	1	0	12	28				
CSK	1445	broad.mit.edu	37	15	75094370	75094370	+	Silent	SNP	C	C	T	rs375554302		TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr15:75094370C>T	ENST00000220003.9	+	12	1845	c.1116C>T	c.(1114-1116)ttC>ttT	p.F372F	CSK_ENST00000439220.2_Silent_p.F372F|CSK_ENST00000309470.9_Silent_p.F372F|CSK_ENST00000567571.1_Silent_p.F372F	NM_004383.2	NP_004374.1	P41240	CSK_HUMAN	c-src tyrosine kinase	372	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adherens junction organization (GO:0034332)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cellular response to peptide hormone stimulus (GO:0071375)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of bone resorption (GO:0045779)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of kinase activity (GO:0033673)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of phagocytosis (GO:0050765)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060368)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein C-terminus binding (GO:0008022)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|lung(2)	3						TGTGGAGTTTCGGAATCCTTC	0.542																																						ENST00000220003.9																			0				central_nervous_system(1)|lung(2)	3						c.(1114-1116)ttC>ttT		c-src tyrosine kinase		C	,	1,4393	2.1+/-5.4	0,1,2196	117.0	117.0	117.0		1116,1116	-3.0	1.0	15		117	0,8592		0,0,4296	no	coding-synonymous,coding-synonymous	CSK	NM_001127190.1,NM_004383.2	,	0,1,6492	TT,TC,CC		0.0,0.0228,0.0077	,	372/451,372/451	75094370	1,12985	2197	4296	6493	SO:0001819	synonymous_variant	1445				blood coagulation|epidermal growth factor receptor signaling pathway|T cell costimulation|T cell receptor signaling pathway	centrosome|cytosol|Golgi apparatus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein C-terminus binding	g.chr15:75094370C>T		CCDS10269.1	15q24.1	2013-02-14			ENSG00000103653	ENSG00000103653	2.7.10.1	"""SH2 domain containing"""	2444	protein-coding gene	gene with protein product		124095				1377109	Standard	NM_004383		Approved		uc010bka.3	P41240	OTTHUMG00000142814	ENST00000220003.9:c.1116C>T	15.37:g.75094370C>T						CSK_ENST00000439220.2_Silent_p.F372F|CSK_ENST00000567571.1_Silent_p.F372F|CSK_ENST00000309470.9_Silent_p.F372F	p.F372F	NM_004383.2	NP_004374.1	P41240	CSK_HUMAN			12	1845	+			372			Protein kinase.		Q2M3N2|Q6FGZ6	Silent	SNP	ENST00000220003.9	37	c.1116C>T	CCDS10269.1																																																																																				0.542	CSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286398.2	NM_004383		36	124	0	0	0	1	0	36	124				
USP17L2	377630	broad.mit.edu	37	8	11994707	11994707	+	Missense_Mutation	SNP	G	G	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr8:11994707G>T	ENST00000333796.3	-	1	1879	c.1563C>A	c.(1561-1563)caC>caA	p.H521Q	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	521	Mediates interaction with SUDS3.				apoptotic process (GO:0006915)|CAAX-box protein processing (GO:0071586)|cell cycle checkpoint (GO:0000075)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of protein processing (GO:0010955)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of Ras GTPase activity (GO:0034261)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of RIG-I signaling pathway (GO:1900246)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of apoptotic process (GO:0042981)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of defense response to virus by host (GO:0050691)|regulation of ruffle assembly (GO:1900027)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						CCCTCTTGCTGTGTTTGTTCT	0.562																																						ENST00000333796.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						c.(1561-1563)caC>caA		ubiquitin specific peptidase 17-like family member 2							70.0	81.0	77.0					8																	11994707		1456	2989	4445	SO:0001583	missense	377630				apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr8:11994707G>T	BC156290	CCDS43713.1	8p23.1	2012-10-09	2012-10-09		ENSG00000223443	ENSG00000223443			34434	protein-coding gene	gene with protein product	"""deubiquitinating enzyme 3"""	610186	"""ubiquitin specific peptidase 17-like 2"""				Standard	NM_201402		Approved	DUB3	uc003wvc.1	Q6R6M4	OTTHUMG00000165295	ENST00000333796.3:c.1563C>A	8.37:g.11994707G>T	ENSP00000333329:p.His521Gln					FAM66D_ENST00000434078.2_RNA	p.H521Q	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN			1	1879	-			521						Missense_Mutation	SNP	ENST00000333796.3	37	c.1563C>A	CCDS43713.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.885660	0.00532	.	.	ENSG00000223443	ENST00000333796	T	0.10288	2.89	0.418	-0.836	0.10770	.	2.068110	0.03371	N	0.198931	T	0.03915	0.0110	N	0.02916	-0.46	0.09310	N	1	B	0.20052	0.041	B	0.14578	0.011	T	0.32508	-0.9904	9	0.10636	T	0.68	.	.	.	.	.	521	Q6R6M4	U17L2_HUMAN	Q	521	ENSP00000333329:H521Q	ENSP00000333329:H521Q	H	-	3	2	USP17L2	12032116	0.002000	0.14202	0.001000	0.08648	0.001000	0.01503	-0.424000	0.07025	-0.520000	0.06435	-0.532000	0.04303	CAC		0.562	USP17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383303.2	NM_201402		35	139	1	0	6.45866e-13	1	7.20786e-13	35	139				
ZNF483	158399	broad.mit.edu	37	9	114296094	114296094	+	Nonsense_Mutation	SNP	G	G	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr9:114296094G>T	ENST00000309235.5	+	4	735	c.577G>T	c.(577-579)Gag>Tag	p.E193*	ZNF483_ENST00000355824.3_Nonsense_Mutation_p.E193*|ZNF483_ENST00000358151.4_Nonsense_Mutation_p.E193*	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	193	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						TTTTCAAAAGGAGCTATATAA	0.403																																						ENST00000309235.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						c.(577-579)Gag>Tag		zinc finger protein 483							98.0	105.0	103.0					9																	114296094		2203	4300	6503	SO:0001587	stop_gained	158399				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:114296094G>T	AB075842	CCDS35105.1, CCDS35106.1	9q32	2013-01-09			ENSG00000173258	ENSG00000173258		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23384	protein-coding gene	gene with protein product							Standard	NM_001007169		Approved	ZKSCAN16, KIAA1962, ZSCAN48	uc004bff.2	Q8TF39	OTTHUMG00000020490	ENST00000309235.5:c.577G>T	9.37:g.114296094G>T	ENSP00000311679:p.Glu193*					ZNF483_ENST00000358151.4_Nonsense_Mutation_p.E193*|ZNF483_ENST00000355824.3_Nonsense_Mutation_p.E193*	p.E193*	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN			4	735	+			193			KRAB.		Q5VZN2|Q8NAE1	Nonsense_Mutation	SNP	ENST00000309235.5	37	c.577G>T	CCDS35106.1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.814611	0.50527	.	.	ENSG00000173258	ENST00000358151;ENST00000355824;ENST00000309235	.	.	.	3.91	2.02	0.26589	.	0.173476	0.27912	N	0.017345	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	-5.8179	4.2511	0.10695	0.2111:0.1922:0.5968:0.0	.	.	.	.	X	193	.	ENSP00000311679:E193X	E	+	1	0	ZNF483	113335915	0.700000	0.27796	0.488000	0.27440	0.113000	0.19764	0.807000	0.27140	0.420000	0.25954	-0.150000	0.13652	GAG		0.403	ZNF483-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053641.1	XM_088567		16	126	1	0	3.41278e-10	1	3.77844e-10	16	126				
GDPD5	81544	broad.mit.edu	37	11	75152270	75152270	+	Missense_Mutation	SNP	G	G	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr11:75152270G>A	ENST00000336898.3	-	14	2248	c.1411C>T	c.(1411-1413)Cca>Tca	p.P471S	GDPD5_ENST00000526177.1_Missense_Mutation_p.P333S|GDPD5_ENST00000529721.1_Missense_Mutation_p.P471S|GDPD5_ENST00000376282.3_Missense_Mutation_p.P352S|GDPD5_ENST00000533805.1_Missense_Mutation_p.P226S|GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000533784.1_Missense_Mutation_p.P352S	NM_030792.6	NP_110419.5	Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain containing 5	471	GP-PDE.				cerebral cortex neuron differentiation (GO:0021895)|glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)|negative regulation of Notch signaling pathway (GO:0045746)|neuron projection development (GO:0031175)|positive regulation of neuron differentiation (GO:0045666)|regulation of timing of cell differentiation (GO:0048505)|spinal cord motor neuron differentiation (GO:0021522)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						GTGACGGATGGGACCCCCGCA	0.652																																						ENST00000526177.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						c.(997-999)Cca>Tca		glycerophosphodiester phosphodiesterase domain containing 5							100.0	66.0	77.0					11																	75152270		2200	4293	6493	SO:0001583	missense	81544				glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity	g.chr11:75152270G>A	AF318377	CCDS8238.1	11q13.4-q13.5	2011-01-25				ENSG00000158555			28804	protein-coding gene	gene with protein product		609632				18667693, 17275818	Standard	NM_030792		Approved	PP1665, GDE2	uc001owp.4	Q8WTR4		ENST00000336898.3:c.1411C>T	11.37:g.75152270G>A	ENSP00000337972:p.Pro471Ser					GDPD5_ENST00000533805.1_Missense_Mutation_p.P226S|GDPD5_ENST00000336898.3_Missense_Mutation_p.P471S|GDPD5_ENST00000376282.3_Missense_Mutation_p.P352S|GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000533784.1_Missense_Mutation_p.P352S|GDPD5_ENST00000529721.1_Missense_Mutation_p.P471S	p.P333S			Q8WTR4	GDPD5_HUMAN			10	2875	-			471			GDPD.		Q49AQ5|Q6UX76|Q7Z4S0|Q8N781|Q8NCB7|Q8TB77	Missense_Mutation	SNP	ENST00000336898.3	37	c.997C>T	CCDS8238.1	.	.	.	.	.	.	.	.	.	.	g	4.896	0.166579	0.09339	.	.	ENSG00000158555	ENST00000526177;ENST00000533784;ENST00000529721;ENST00000336898;ENST00000533805;ENST00000376282;ENST00000534322	T;T;T;T;T;T;T	0.10668	2.85;2.85;2.85;2.85;2.85;2.85;2.85	4.84	3.93	0.45458	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.295488	0.35040	N	0.003492	T	0.05456	0.0144	N	0.16368	0.405	0.80722	D	1	P;B	0.38473	0.633;0.016	B;B	0.31495	0.131;0.008	T	0.46470	-0.9189	10	0.13470	T	0.59	-27.1323	11.2838	0.49210	0.0892:0.0:0.9108:0.0	.	352;471	Q8WTR4-2;Q8WTR4	.;GDPD5_HUMAN	S	333;352;471;471;226;352;55	ENSP00000434050:P333S;ENSP00000437049:P352S;ENSP00000433214:P471S;ENSP00000337972:P471S;ENSP00000435196:P226S;ENSP00000365459:P352S;ENSP00000435728:P55S	ENSP00000337972:P471S	P	-	1	0	GDPD5	74829918	1.000000	0.71417	0.953000	0.39169	0.114000	0.19823	3.319000	0.51983	1.425000	0.47237	0.645000	0.84053	CCA		0.652	GDPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384409.1	NM_030792		19	39	0	0	0	1	0	19	39				
TMC4	147798	broad.mit.edu	37	19	54673334	54673334	+	Missense_Mutation	SNP	G	G	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr19:54673334G>A	ENST00000376591.4	-	3	507	c.376C>T	c.(376-378)Cgg>Tgg	p.R126W	TMC4_ENST00000476013.2_5'UTR|TMC4_ENST00000301187.4_Missense_Mutation_p.R120W	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	126					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CGAAGTAGCCGCGCCCATCGG	0.592																																						ENST00000376591.4																			0				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22						c.(376-378)Cgg>Tgg		transmembrane channel-like 4							82.0	77.0	79.0					19																	54673334		2203	4300	6503	SO:0001583	missense	147798					integral to membrane		g.chr19:54673334G>A	AY236492	CCDS12882.1, CCDS46174.1	19q13.42	2008-02-05			ENSG00000167608	ENSG00000167608			22998	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005277069		Approved		uc010erf.3	Q7Z404	OTTHUMG00000066485	ENST00000376591.4:c.376C>T	19.37:g.54673334G>A	ENSP00000365776:p.Arg126Trp					TMC4_ENST00000476013.2_5'UTR|TMC4_ENST00000301187.4_Missense_Mutation_p.R120W	p.R126W	NM_001145303.1|NM_144686.2	NP_001138775.1|NP_653287.1	Q7Z404	TMC4_HUMAN			3	507	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		126					Q7Z5M3|Q8N5E4|Q8TBS7	Missense_Mutation	SNP	ENST00000376591.4	37	c.376C>T	CCDS46174.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.664863	0.47572	.	.	ENSG00000167608	ENST00000301187;ENST00000376591;ENST00000446291	T;T;T	0.53857	0.6;0.6;0.6	3.68	2.59	0.31030	.	1.981000	0.03428	U	0.207365	T	0.60392	0.2265	L	0.42744	1.35	0.09310	N	0.999999	D;D	0.65815	0.993;0.995	P;P	0.54924	0.528;0.764	T	0.46679	-0.9174	10	0.72032	D	0.01	-0.3605	8.8317	0.35087	0.0:0.0:0.7748:0.2252	.	126;120	Q7Z404;Q7Z404-1	TMC4_HUMAN;.	W	120;126;30	ENSP00000301187:R120W;ENSP00000365776:R126W;ENSP00000416444:R30W	ENSP00000301187:R120W	R	-	1	2	TMC4	59365146	0.132000	0.22450	0.001000	0.08648	0.002000	0.02628	1.086000	0.30853	0.812000	0.34326	0.442000	0.29010	CGG		0.592	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000156164.2			15	81	0	0	0	1	0	15	81				
LOXL2	4017	broad.mit.edu	37	8	23174465	23174465	+	Missense_Mutation	SNP	C	C	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr8:23174465C>T	ENST00000389131.3	-	9	2002	c.1633G>A	c.(1633-1635)Gaa>Aaa	p.E545K		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	545					aging (GO:0007568)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial to mesenchymal transition (GO:0001837)|histone modification (GO:0016570)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidation-reduction process (GO:0055114)|positive regulation of chondrocyte differentiation (GO:0032332)|protein deamination (GO:0018277)|response to copper ion (GO:0046688)|response to hypoxia (GO:0001666)|sprouting angiogenesis (GO:0002040)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|chromosome (GO:0005694)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|methylated histone binding (GO:0035064)|oligosaccharide binding (GO:0070492)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		CTCTCACTTTCTGAGCAGGCA	0.662																																						ENST00000389131.3																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1633-1635)Gaa>Aaa		lysyl oxidase-like 2							41.0	38.0	39.0					8																	23174465		2202	4300	6502	SO:0001583	missense	4017				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity	g.chr8:23174465C>T	U89942	CCDS34864.1	8p21.3	2008-05-15				ENSG00000134013			6666	protein-coding gene	gene with protein product		606663				9722957	Standard	NM_002318		Approved	WS9-14	uc003xdh.1	Q9Y4K0		ENST00000389131.3:c.1633G>A	8.37:g.23174465C>T	ENSP00000373783:p.Glu545Lys						p.E545K	NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)	9	2002	-		Prostate(55;0.0453)|Breast(100;0.143)	545					B2R5Q0|Q53HV3|Q9BW70|Q9Y5Y8	Missense_Mutation	SNP	ENST00000389131.3	37	c.1633G>A	CCDS34864.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.147024	0.77888	.	.	ENSG00000134013	ENST00000389131	T	0.30448	1.53	5.15	4.21	0.49690	Speract/scavenger receptor-related (1);	0.094060	0.64402	D	0.000001	T	0.35828	0.0945	M	0.76328	2.33	0.50313	D	0.999864	P;B	0.38335	0.627;0.278	B;B	0.37888	0.26;0.15	T	0.32824	-0.9892	10	0.45353	T	0.12	.	14.1952	0.65667	0.0:0.8496:0.1504:0.0	.	545;545	B2R5Q0;Q9Y4K0	.;LOXL2_HUMAN	K	545	ENSP00000373783:E545K	ENSP00000373783:E545K	E	-	1	0	LOXL2	23230410	0.980000	0.34600	1.000000	0.80357	0.928000	0.56348	2.004000	0.40854	2.562000	0.86427	0.655000	0.94253	GAA		0.662	LOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375603.1			5	17	0	0	0	1	0	5	17				
FOXJ3	22887	broad.mit.edu	37	1	42657219	42657219	+	Nonsense_Mutation	SNP	G	G	C			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr1:42657219G>C	ENST00000372572.1	-	11	1417	c.1106C>G	c.(1105-1107)tCa>tGa	p.S369*	FOXJ3_ENST00000361776.1_Nonsense_Mutation_p.S335*|FOXJ3_ENST00000545068.1_Nonsense_Mutation_p.S369*|FOXJ3_ENST00000372573.1_Nonsense_Mutation_p.S369*|FOXJ3_ENST00000361346.1_Nonsense_Mutation_p.S369*|FOXJ3_ENST00000372571.1_5'Flank	NM_001198851.1	NP_001185780.1	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	369					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GTGAGACAGTGAGACCTGTGC	0.577																																						ENST00000372572.1																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18						c.(1105-1107)tCa>tGa		forkhead box J3							503.0	410.0	441.0					1																	42657219		2203	4300	6503	SO:0001587	stop_gained	22887				embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr1:42657219G>C	AB028964	CCDS30689.1, CCDS55594.1	1p34.2	2008-04-10			ENSG00000198815	ENSG00000198815		"""Forkhead boxes"""	29178	protein-coding gene	gene with protein product							Standard	NM_014947		Approved	KIAA1041	uc001chf.3	Q9UPW0	OTTHUMG00000007026	ENST00000372572.1:c.1106C>G	1.37:g.42657219G>C	ENSP00000361653:p.Ser369*					FOXJ3_ENST00000372573.1_Nonsense_Mutation_p.S369*|FOXJ3_ENST00000545068.1_Nonsense_Mutation_p.S369*|FOXJ3_ENST00000361776.1_Nonsense_Mutation_p.S335*|FOXJ3_ENST00000361346.1_Nonsense_Mutation_p.S369*	p.S369*	NM_001198851.1	NP_001185780.1	Q9UPW0	FOXJ3_HUMAN			11	1417	-	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	369					A7MBL7|A7MD18|D3DPW2|Q9NSS7	Nonsense_Mutation	SNP	ENST00000372572.1	37	c.1106C>G	CCDS30689.1	.	.	.	.	.	.	.	.	.	.	G	37	6.312752	0.97467	.	.	ENSG00000198815	ENST00000372573;ENST00000372572;ENST00000361346;ENST00000361776;ENST00000545068;ENST00000445886	.	.	.	5.31	5.31	0.75309	.	3.036110	0.01054	N	0.004526	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	11.8657	0.52493	0.0:0.0:0.8254:0.1746	.	.	.	.	X	369;369;369;335;369;335	.	ENSP00000354620:S369X	S	-	2	0	FOXJ3	42429806	1.000000	0.71417	0.972000	0.41901	0.962000	0.63368	6.074000	0.71253	2.646000	0.89796	0.555000	0.69702	TCA		0.577	FOXJ3-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000018310.1	NM_014947		7	214	0	0	0	1	0	7	214				
MERTK	10461	broad.mit.edu	37	2	112702628	112702628	+	Missense_Mutation	SNP	G	G	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr2:112702628G>A	ENST00000295408.4	+	3	831	c.574G>A	c.(574-576)Gaa>Aaa	p.E192K	MERTK_ENST00000409780.1_Missense_Mutation_p.E16K|MERTK_ENST00000421804.2_Missense_Mutation_p.E192K			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	192					apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						CATCTACATCGAAGTACAAGG	0.408																																						ENST00000295408.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						c.(574-576)Gaa>Aaa		c-mer proto-oncogene tyrosine kinase							104.0	96.0	99.0					2																	112702628		2203	4300	6503	SO:0001583	missense	10461				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:112702628G>A	U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7027	protein-coding gene	gene with protein product		604705	"""c-mer proto-oncogene tyrosine kinase"""			8086340, 10343112	Standard	XM_005263565		Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.574G>A	2.37:g.112702628G>A	ENSP00000295408:p.Glu192Lys					MERTK_ENST00000409780.1_Missense_Mutation_p.E16K|MERTK_ENST00000421804.2_Missense_Mutation_p.E192K	p.E192K			Q12866	MERTK_HUMAN			3	831	+			192					Q9HBB4	Missense_Mutation	SNP	ENST00000295408.4	37	c.574G>A	CCDS2094.1	.	.	.	.	.	.	.	.	.	.	G	7.016	0.557786	0.13436	.	.	ENSG00000153208	ENST00000295408;ENST00000421804;ENST00000409780	T;T;T	0.35789	2.8;2.8;1.29	5.68	5.68	0.88126	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.000000	0.33895	U	0.004443	T	0.24470	0.0593	L	0.42632	1.34	0.29692	N	0.840845	P	0.50710	0.938	B	0.38106	0.265	T	0.14476	-1.0471	10	0.09590	T	0.72	-29.9859	10.0667	0.42308	0.0:0.2399:0.6244:0.1356	.	192	Q12866	MERTK_HUMAN	K	192;192;16	ENSP00000295408:E192K;ENSP00000389152:E192K;ENSP00000387277:E16K	ENSP00000295408:E192K	E	+	1	0	MERTK	112419099	0.999000	0.42202	0.915000	0.36163	0.064000	0.16182	3.615000	0.54167	2.670000	0.90874	0.655000	0.94253	GAA		0.408	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254046.2			12	50	0	0	0	1	0	12	50				
TLN1	7094	broad.mit.edu	37	9	35720091	35720091	+	Missense_Mutation	SNP	G	G	A	rs148182997		TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr9:35720091G>A	ENST00000314888.9	-	13	1762	c.1409C>T	c.(1408-1410)cCt>cTt	p.P470L	TLN1_ENST00000540444.1_Missense_Mutation_p.P470L	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	470					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CTGCTGGGCAGGGGGCATGCT	0.627																																						ENST00000314888.9																			0				NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85						c.(1408-1410)cCt>cTt		talin 1		G	LEU/PRO	0,4406		0,0,2203	59.0	58.0	58.0		1409	5.8	1.0	9	dbSNP_134	58	1,8599	1.2+/-3.3	0,1,4299	no	missense	TLN1	NM_006289.3	98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	470/2542	35720091	1,13005	2203	4300	6503	SO:0001583	missense	7094				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	g.chr9:35720091G>A	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.1409C>T	9.37:g.35720091G>A	ENSP00000316029:p.Pro470Leu					TLN1_ENST00000540444.1_Missense_Mutation_p.P470L	p.P470L	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		13	1762	-	all_epithelial(49;0.167)		470					A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	37	c.1409C>T	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.233075	0.39498	0.0	1.16E-4	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.67523	-0.27;-0.27	5.83	5.83	0.93111	.	0.060959	0.64402	D	0.000002	T	0.50922	0.1644	N	0.24115	0.695	0.45108	D	0.998123	B	0.16802	0.019	B	0.14023	0.01	T	0.45644	-0.9247	10	0.11485	T	0.65	-10.8821	14.7857	0.69803	0.0:0.0:0.8216:0.1784	.	470	Q9Y490	TLN1_HUMAN	L	470	ENSP00000316029:P470L;ENSP00000442981:P470L	ENSP00000316029:P470L	P	-	2	0	TLN1	35710091	0.979000	0.34478	0.998000	0.56505	0.999000	0.98932	2.244000	0.43124	2.756000	0.94617	0.655000	0.94253	CCT		0.627	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		15	20	0	0	0	1	0	15	20				
MFSD3	113655	broad.mit.edu	37	8	145737081	145737081	+	IGR	SNP	C	C	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr8:145737081C>T	ENST00000301327.4	+	0	1548				RECQL4_ENST00000532237.1_5'UTR|CTD-2517M22.17_ENST00000580385.1_RNA|RECQL4_ENST00000428558.2_Missense_Mutation_p.R1162H	NM_138431.1	NP_612440.1	Q96ES6	MFSD3_HUMAN	major facilitator superfamily domain containing 3						transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GTGGAAGATGCGGGCCACAGC	0.692																																						ENST00000428558.2										"""N, F, S"""						"""osteosarcoma, skin basal and sqamous cell"""			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						c.(3484-3486)cGc>cAc	Genes defective in diseases associated with sensitivity to DNA damaging agents	RecQ protein-like 4							56.0	65.0	62.0					8																	145737081		2099	4218	6317	SO:0001628	intergenic_variant	9401	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome			DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding	g.chr8:145737081C>T		CCDS6431.1	8q24.3	2005-11-17			ENSG00000167700	ENSG00000167700			25157	protein-coding gene	gene with protein product							Standard	NM_138431		Approved		uc003zdi.1	Q96ES6	OTTHUMG00000165177		8.37:g.145737081C>T						RECQL4_ENST00000532237.1_5'UTR	p.R1162H	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		21	3526	-	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1162						Missense_Mutation	SNP	ENST00000301327.4	37	c.3485G>A	CCDS6431.1																																																																																				0.692	MFSD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382478.2	NM_138431		5	167	0	0	0	1	0	5	167				
GRIP2	80852	broad.mit.edu	37	3	14552981	14552981	+	RNA	SNP	C	C	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr3:14552981C>T	ENST00000273083.3	-	0	1791							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						TCGTTTCCTGCTGGCCGCTGG	0.617																																						ENST00000273083.3																			0				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25								glutamate receptor interacting protein 2							92.0	93.0	93.0					3																	14552981		2073	4217	6290			80852				synaptic transmission	cytosol|plasma membrane	protein binding	g.chr3:14552981C>T	AB051506		3p24-p23	2012-02-08			ENSG00000144596	ENSG00000144596			23841	protein-coding gene	gene with protein product							Standard	NM_001080423		Approved	KIAA1719	uc021wtn.1	Q9C0E4	OTTHUMG00000155544		3.37:g.14552981C>T										Q9C0E4	GRIP2_HUMAN			0	1791	-								Q8TEH9|Q9H7H3	RNA	SNP	ENST00000273083.3	37																																																																																						0.617	GRIP2-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000340582.2	NM_001080423		9	17	0	0	0	1	0	9	17				
CELA3A	10136	broad.mit.edu	37	1	22332001	22332001	+	Missense_Mutation	SNP	C	C	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr1:22332001C>T	ENST00000290122.3	+	3	210	c.191C>T	c.(190-192)gCc>gTc	p.A64V	CELA3A_ENST00000374663.1_Missense_Mutation_p.A64V|RN7SL768P_ENST00000584415.1_RNA	NM_005747.4	NP_005738.4	P09093	CEL3A_HUMAN	chymotrypsin-like elastase family, member 3A	64	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cholesterol metabolic process (GO:0008203)|digestion (GO:0007586)|proteolysis (GO:0006508)		serine-type endopeptidase activity (GO:0004252)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						AGCCTCATCGCCCCCGATTGG	0.627											OREG0013211	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000290122.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(190-192)gCc>gTc		chymotrypsin-like elastase family, member 3A							82.0	96.0	92.0					1																	22332001		2197	4300	6497	SO:0001583	missense	10136							g.chr1:22332001C>T	D00306	CCDS220.1	1p36.12	2009-05-05	2009-05-05	2009-05-05	ENSG00000142789	ENSG00000142789			15944	protein-coding gene	gene with protein product	"""protease E"""		"""elastase 3A, pancreatic (protease E)"", ""elastase 3A, pancreatic"""	ELA3A		2826474, 2460440	Standard	NM_005747		Approved	ELA3		P09093	OTTHUMG00000002755	ENST00000290122.3:c.191C>T	1.37:g.22332001C>T	ENSP00000290122:p.Ala64Val		OREG0013211	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	755	CELA3A_ENST00000374663.1_Missense_Mutation_p.A64V	p.A64V	NM_005747.4	NP_005738.4					3	210	+								B1AQ53|Q9BRW4	Missense_Mutation	SNP	ENST00000290122.3	37	c.191C>T	CCDS220.1	.	.	.	.	.	.	.	.	.	.	C	10.85	1.467416	0.26335	.	.	ENSG00000142789	ENST00000290122;ENST00000374663;ENST00000374661	T;D	0.93488	2.19;-3.23	3.73	1.8	0.24995	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.94394	0.8197	M	0.66378	2.025	0.09310	N	1	D;P	0.57257	0.979;0.841	P;P	0.62560	0.904;0.639	D	0.86058	0.1530	9	0.35671	T	0.21	-12.5149	7.5423	0.27746	0.1868:0.6322:0.181:0.0	.	64;64	B1AQ52;P09093	.;CEL3A_HUMAN	V	64;64;80	ENSP00000290122:A64V;ENSP00000363795:A64V	ENSP00000290122:A64V	A	+	2	0	CELA3A	22204588	0.000000	0.05858	0.017000	0.16124	0.026000	0.11368	0.330000	0.19715	0.249000	0.21456	0.400000	0.26472	GCC		0.627	CELA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007791.1	NM_005747		11	142	0	0	0	1	0	11	142				
HIVEP3	59269	broad.mit.edu	37	1	42041238	42041238	+	Silent	SNP	C	C	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr1:42041238C>T	ENST00000372583.1	-	5	6069	c.5184G>A	c.(5182-5184)gcG>gcA	p.A1728A	HIVEP3_ENST00000372584.1_Silent_p.A1728A|HIVEP3_ENST00000429157.2_Silent_p.A1728A|HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000247584.5_Silent_p.A1728A	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1728					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TTTTGATCCTCGCCGGCTCCC	0.567																																						ENST00000372584.1																			0				NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85						c.(5182-5184)gcG>gcA		human immunodeficiency virus type I enhancer binding protein 3							158.0	169.0	165.0					1																	42041238		2203	4300	6503	SO:0001819	synonymous_variant	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:42041238C>T	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.5184G>A	1.37:g.42041238C>T						HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000247584.5_Silent_p.A1728A|HIVEP3_ENST00000372583.1_Silent_p.A1728A|HIVEP3_ENST00000429157.2_Silent_p.A1728A	p.A1728A	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN			4	6198	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	1728					A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Silent	SNP	ENST00000372583.1	37	c.5184G>A	CCDS463.1																																																																																				0.567	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		31	192	0	0	0	1	0	31	192				
CACNA1F	778	broad.mit.edu	37	X	49065818	49065818	+	Missense_Mutation	SNP	C	C	G			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chrX:49065818C>G	ENST00000376265.2	-	42	4951	c.4890G>C	c.(4888-4890)gaG>gaC	p.E1630D	CACNA1F_ENST00000323022.5_Missense_Mutation_p.E1619D|CACNA1F_ENST00000376251.1_Missense_Mutation_p.E1565D	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1630					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	CCTGCCGCATCTCAGGACCCA	0.572																																						ENST00000376265.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85						c.(4888-4890)gaG>gaC		calcium channel, voltage-dependent, L type, alpha 1F subunit	Verapamil(DB00661)						68.0	47.0	54.0					X																	49065818		2203	4299	6502	SO:0001583	missense	778				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chrX:49065818C>G	AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1393	protein-coding gene	gene with protein product		300110	"""Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"""	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.4890G>C	X.37:g.49065818C>G	ENSP00000365441:p.Glu1630Asp					CACNA1F_ENST00000323022.5_Missense_Mutation_p.E1619D|CACNA1F_ENST00000376251.1_Missense_Mutation_p.E1565D	p.E1630D	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN			42	4951	-			1630					A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP	ENST00000376265.2	37	c.4890G>C	CCDS35253.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.022555	0.75275	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265;ENST00000486943	D;D;D	0.97303	-4.33;-4.24;-4.25	5.58	5.58	0.84498	.	1.788610	0.02323	N	0.073122	D	0.98570	0.9522	M	0.77103	2.36	0.48975	D	0.999731	D;D	0.76494	0.998;0.999	D;D	0.77557	0.99;0.93	D	0.92147	0.5725	10	0.72032	D	0.01	.	11.3453	0.49556	0.0:0.9108:0.0:0.0892	.	1619;1630	F5CIQ9;O60840	.;CAC1F_HUMAN	D	1565;1619;1630;40	ENSP00000365427:E1565D;ENSP00000321618:E1619D;ENSP00000365441:E1630D	ENSP00000321618:E1619D	E	-	3	2	CACNA1F	48952762	1.000000	0.71417	1.000000	0.80357	0.756000	0.42949	2.007000	0.40883	2.322000	0.78497	0.600000	0.82982	GAG		0.572	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183		10	9	0	0	0	1	0	10	9				
TNFRSF21	27242	broad.mit.edu	37	6	47251887	47251887	+	Missense_Mutation	SNP	A	A	G			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr6:47251887A>G	ENST00000296861.2	-	3	1423	c.1030T>C	c.(1030-1032)Ttt>Ctt	p.F344L		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	344					adaptive immune response (GO:0002250)|apoptotic process (GO:0006915)|B cell apoptotic process (GO:0001783)|cellular lipid metabolic process (GO:0044255)|cellular response to tumor necrosis factor (GO:0071356)|humoral immune response (GO:0006959)|myelination (GO:0042552)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-13 secretion (GO:2000666)|negative regulation of interleukin-5 secretion (GO:2000663)|negative regulation of myelination (GO:0031642)|negative regulation of T cell proliferation (GO:0042130)|neuron apoptotic process (GO:0051402)|oligodendrocyte apoptotic process (GO:0097252)|regulation of oligodendrocyte differentiation (GO:0048713)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			TTGATGTCAAAATGCTTGTGT	0.547																																						ENST00000296861.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21						c.(1030-1032)Ttt>Ctt		tumor necrosis factor receptor superfamily, member 21							182.0	171.0	175.0					6																	47251887		2203	4300	6503	SO:0001583	missense	27242				cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity	g.chr6:47251887A>G	AF068868	CCDS4921.1	6p21.1	2011-08-11			ENSG00000146072	ENSG00000146072		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	13469	protein-coding gene	gene with protein product	"""death receptor 6"""	605732				9714541	Standard	NM_014452		Approved	DR6, CD358	uc003oyv.3	O75509	OTTHUMG00000014796	ENST00000296861.2:c.1030T>C	6.37:g.47251887A>G	ENSP00000296861:p.Phe344Leu						p.F344L	NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	Lung(136;0.189)		3	1423	-			344					B2RDI9|Q0D2P5|Q96D86	Missense_Mutation	SNP	ENST00000296861.2	37	c.1030T>C	CCDS4921.1	.	.	.	.	.	.	.	.	.	.	A	29.8	5.036529	0.93630	.	.	ENSG00000146072	ENST00000296861;ENST00000419206	T	0.74632	-0.86	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.81941	0.4929	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.84382	0.0550	10	0.87932	D	0	.	16.3483	0.83171	1.0:0.0:0.0:0.0	.	344	O75509	TNR21_HUMAN	L	344;33	ENSP00000296861:F344L	ENSP00000296861:F344L	F	-	1	0	TNFRSF21	47359846	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.659000	0.91116	2.254000	0.74563	0.533000	0.62120	TTT		0.547	TNFRSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040814.1	NM_014452		25	134	0	0	0	1	0	25	134				
SLC25A36	55186	broad.mit.edu	37	3	140692718	140692718	+	Silent	SNP	C	C	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr3:140692718C>T	ENST00000324194.6	+	6	781	c.613C>T	c.(613-615)Ctg>Ttg	p.L205L	SLC25A36_ENST00000453248.2_Silent_p.L179L|SLC25A36_ENST00000446041.2_Silent_p.L205L|RP11-231L11.3_ENST00000513802.1_RNA			Q96CQ1	S2536_HUMAN	solute carrier family 25 (pyrimidine nucleotide carrier ), member 36	205					response to estradiol (GO:0032355)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						ACAAAAACTACTGGAATATAA	0.358																																						ENST00000446041.2																			0				endometrium(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						c.(613-615)Ctg>Ttg		solute carrier family 25 (pyrimidine nucleotide carrier ), member 36							60.0	62.0	62.0					3																	140692718		2202	4300	6502	SO:0001819	synonymous_variant	55186				response to estradiol stimulus|transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr3:140692718C>T	AK001480	CCDS3114.1, CCDS46927.1	3q23	2013-05-22	2012-03-29		ENSG00000114120	ENSG00000114120		"""Solute carriers"""	25554	protein-coding gene	gene with protein product			"""solute carrier family 25, member 36"""				Standard	NM_001104647		Approved	FLJ10618, PNC2	uc003etr.2	Q96CQ1	OTTHUMG00000160260	ENST00000324194.6:c.613C>T	3.37:g.140692718C>T						SLC25A36_ENST00000324194.6_Silent_p.L205L|SLC25A36_ENST00000453248.2_Silent_p.L179L	p.L205L	NM_001104647.1|NM_018155.2	NP_001098117.1|NP_060625.2	Q96CQ1	S2536_HUMAN			6	838	+			205					A8MYF7|Q05CY1|Q9H0G8|Q9NVN5	Silent	SNP	ENST00000324194.6	37	c.613C>T	CCDS46927.1																																																																																				0.358	SLC25A36-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359929.1	NM_018155		16	44	0	0	0	1	0	16	44				
METTL3	56339	broad.mit.edu	37	14	21971721	21971721	+	Splice_Site	SNP	C	C	A	rs143040965	byFrequency	TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr14:21971721C>A	ENST00000298717.4	-	3	470		c.e3-1		METTL3_ENST00000538267.1_Splice_Site	NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3						circadian rhythm (GO:0007623)|gene expression (GO:0010467)|mRNA destabilization (GO:0061157)|mRNA methylation (GO:0080009)|mRNA processing (GO:0006397)|RNA methylation (GO:0001510)|stem cell maintenance (GO:0019827)	MIS complex (GO:0036396)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity (GO:0016422)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		GAGCATCTGGCTAGAGAACGA	0.488																																						ENST00000298717.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20						c.e3-1		methyltransferase like 3							56.0	53.0	54.0					14																	21971721		2203	4300	6503	SO:0001630	splice_region_variant	56339				gene expression	nuclear speck	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding	g.chr14:21971721C>A	AF014837	CCDS32044.1	14q11.1	2012-06-12			ENSG00000165819	ENSG00000165819	2.1.1.62		17563	protein-coding gene	gene with protein product	"""N6-adenosine-methyltransferase 70 kDa subunit"""	612472					Standard	XM_006720206		Approved	Spo8, M6A, MT-A70	uc001wbc.3	Q86U44	OTTHUMG00000168825	ENST00000298717.4:c.319-1G>T	14.37:g.21971721C>A						METTL3_ENST00000538267.1_Splice_Site		NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)	3	470	-	all_cancers(95;0.000628)							O14736|Q86V05|Q9HB32	Splice_Site	SNP	ENST00000298717.4	37		CCDS32044.1	.	.	.	.	.	.	.	.	.	.	C	18.38	3.610458	0.66558	.	.	ENSG00000165819	ENST00000298717;ENST00000538267;ENST00000440691	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0313	0.89285	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	METTL3	21041561	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	6.048000	0.71046	2.797000	0.96272	0.563000	0.77884	.		0.488	METTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401227.1	NM_019852	Intron	7	38	1	0	0.00198382	1	0.00205757	7	38				
PCDHGA8	9708	broad.mit.edu	37	5	140773323	140773323	+	Missense_Mutation	SNP	T	T	C			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr5:140773323T>C	ENST00000398604.2	+	1	943	c.943T>C	c.(943-945)Tat>Cat	p.Y315H	PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	315	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGTTCATTTTATGAAATGGA	0.368																																						ENST00000398604.2																			0				endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(943-945)Tat>Cat									121.0	126.0	124.0					5																	140773323		1825	4083	5908	SO:0001583	missense	9708							g.chr5:140773323T>C	AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767		"""Cadherins / Protocadherins : Clustered"""	8706	other	protocadherin		606295				10380929	Standard	NM_014004		Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.943T>C	5.37:g.140773323T>C	ENSP00000381605:p.Tyr315His					PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron	p.Y315H	NM_032088.1	NP_114477.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	943	+								A7MCZ4|O15039	Missense_Mutation	SNP	ENST00000398604.2	37	c.943T>C	CCDS47291.1	.	.	.	.	.	.	.	.	.	.	.	11.14	1.551150	0.27739	.	.	ENSG00000253767	ENST00000398604	T	0.69561	-0.41	5.41	5.41	0.78517	Cadherin (5);Cadherin-like (1);	0.000000	0.29080	U	0.013215	T	0.69797	0.3151	L	0.55481	1.735	0.27829	N	0.941533	P;B	0.44877	0.845;0.278	P;B	0.50825	0.651;0.205	T	0.66760	-0.5842	10	0.49607	T	0.09	.	11.3822	0.49763	0.0:0.0727:0.0:0.9273	.	315;315	Q9Y5G5;Q9Y5G5-2	PCDG8_HUMAN;.	H	315	ENSP00000381605:Y315H	ENSP00000381605:Y315H	Y	+	1	0	PCDHGA8	140753507	1.000000	0.71417	0.987000	0.45799	0.643000	0.38383	5.101000	0.64566	2.064000	0.61679	0.533000	0.62120	TAT		0.368	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376972.1	NM_032088		50	70	0	0	0	1	0	50	70				
TNKS1BP1	85456	broad.mit.edu	37	11	57070013	57070013	+	Nonsense_Mutation	SNP	G	G	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr11:57070013G>A	ENST00000532437.1	-	6	4914	c.4603C>T	c.(4603-4605)Cag>Tag	p.Q1535*	TNKS1BP1_ENST00000358252.3_Nonsense_Mutation_p.Q1535*			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1535	Acidic.|Tankyrase-binding.				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)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				GCTGGCCCCTGATCGCTCCAC	0.642																																						ENST00000532437.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(4603-4605)Cag>Tag		tankyrase 1 binding protein 1, 182kDa							34.0	37.0	36.0					11																	57070013		2201	4296	6497	SO:0001587	stop_gained	85456				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	g.chr11:57070013G>A	AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.4603C>T	11.37:g.57070013G>A	ENSP00000437271:p.Gln1535*					TNKS1BP1_ENST00000358252.3_Nonsense_Mutation_p.Q1535*	p.Q1535*			Q9C0C2	TB182_HUMAN			6	4914	-		all_epithelial(135;0.21)	1535			Acidic.|Tankyrase-binding.		A7E2F8|Q6PJ35|Q6ZV74	Nonsense_Mutation	SNP	ENST00000532437.1	37	c.4603C>T	CCDS7951.1	.	.	.	.	.	.	.	.	.	.	G	44	10.622917	0.99439	.	.	ENSG00000149115	ENST00000358252;ENST00000532437	.	.	.	4.26	4.26	0.50523	.	0.548939	0.16815	N	0.198387	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-16.4988	12.8896	0.58064	0.0:0.0:1.0:0.0	.	.	.	.	X	1535	.	ENSP00000350990:Q1535X	Q	-	1	0	TNKS1BP1	56826589	0.049000	0.20398	0.297000	0.24988	0.003000	0.03518	1.481000	0.35476	2.315000	0.78130	0.561000	0.74099	CAG		0.642	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396		10	23	0	0	0	1	0	10	23				
DUSP16	80824	broad.mit.edu	37	12	12629888	12629888	+	Missense_Mutation	SNP	C	C	G			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr12:12629888C>G	ENST00000228862.2	-	7	2508	c.1877G>C	c.(1876-1878)aGa>aCa	p.R626T	DUSP16_ENST00000545864.1_5'Flank|DUSP16_ENST00000298573.4_3'UTR	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	626					dephosphorylation (GO:0016311)|inactivation of MAPK activity (GO:0000188)|MAPK export from nucleus (GO:0045204)|MAPK phosphatase export from nucleus, leptomycin B sensitive (GO:0045209)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		TTGGCAGCTTCTGCGTTTAAA	0.537																																					Ovarian(158;443 1896 15437 36069 46477)	ENST00000228862.2																			0				endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26						c.(1876-1878)aGa>aCa		dual specificity phosphatase 16							135.0	146.0	142.0					12																	12629888		2203	4300	6503	SO:0001583	missense	80824				inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr12:12629888C>G	AB052156	CCDS8650.1	12p13	2011-06-09				ENSG00000111266		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	17909	protein-coding gene	gene with protein product	"""MAPK phosphatase-7"""	607175				11359773, 11489891, 15888437	Standard	NM_030640		Approved	MKP-7, KIAA1700, MKP7	uc001rao.2	Q9BY84		ENST00000228862.2:c.1877G>C	12.37:g.12629888C>G	ENSP00000228862:p.Arg626Thr					DUSP16_ENST00000298573.4_3'UTR	p.R626T	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0203)	7	2508	-		Prostate(47;0.0687)	626					Q547C7|Q96QS2|Q9C0G3	Missense_Mutation	SNP	ENST00000228862.2	37	c.1877G>C	CCDS8650.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.138971	0.77775	.	.	ENSG00000111266	ENST00000228862	T	0.10005	2.92	4.88	4.88	0.63580	.	0.654497	0.15592	N	0.254350	T	0.33585	0.0868	M	0.64404	1.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.991	T	0.02574	-1.1139	10	0.87932	D	0	.	18.5778	0.91161	0.0:1.0:0.0:0.0	.	626;626	Q9BY84;Q96N49	DUS16_HUMAN;.	T	626	ENSP00000228862:R626T	ENSP00000228862:R626T	R	-	2	0	DUSP16	12521155	1.000000	0.71417	0.755000	0.31263	0.819000	0.46315	7.403000	0.79983	2.679000	0.91253	0.655000	0.94253	AGA		0.537	DUSP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400311.1	NM_030640		19	187	0	0	0	1	0	19	187				
SLCO1B7	338821	broad.mit.edu	37	12	21201656	21201656	+	Silent	SNP	C	C	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr12:21201656C>T	ENST00000421593.2	+	8	1005	c.1005C>T	c.(1003-1005)gcC>gcT	p.A335A	SLCO1B3_ENST00000553473.1_Intron|LST3_ENST00000540229.1_Intron|SLCO1B7_ENST00000554957.1_Silent_p.A382A|LST3_ENST00000381541.3_Silent_p.A382A	NM_001009562.4	NP_001009562.3	G3V0H7	SO1B7_HUMAN	solute carrier organic anion transporter family, member 1B7 (non-functional)	335						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						GAGTCCTCGCCCTACCTGCTG	0.353																																						ENST00000381541.3																			0											c.(1144-1146)gcC>gcT									31.0	29.0	30.0					12																	21201656		1942	4185	6127	SO:0001819	synonymous_variant	0							g.chr12:21201656C>T	AF401642	CCDS44843.1	12p12.3	2013-05-22			ENSG00000205754	ENSG00000205754		"""Solute carriers"""	32934	protein-coding gene	gene with protein product							Standard	NM_001009562		Approved	LST3, SLC21A21		G3V0H7	OTTHUMG00000169045	ENST00000421593.2:c.1005C>T	12.37:g.21201656C>T						SLCO1B7_ENST00000421593.2_Silent_p.A335A|SLCO1B3_ENST00000553473.1_Intron|SLCO1B7_ENST00000554957.1_Silent_p.A382A|LST3_ENST00000540229.1_Intron	p.A382A							9	1211	+								Q71QF0	Silent	SNP	ENST00000421593.2	37	c.1146C>T	CCDS44843.1																																																																																				0.353	SLCO1B7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402066.1	NM_001009562		4	15	0	0	0	1	0	4	15				
NEU1	4758	broad.mit.edu	37	6	31827528	31827528	+	Missense_Mutation	SNP	C	C	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr6:31827528C>T	ENST00000375631.4	-	6	1345	c.1216G>A	c.(1216-1218)Gtg>Atg	p.V406M		NM_000434.3	NP_000425.1	Q99519	NEUR1_HUMAN	sialidase 1 (lysosomal sialidase)	406					glycosphingolipid metabolic process (GO:0006687)|lipid catabolic process (GO:0016042)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)|exo-alpha-sialidase activity (GO:0004308)			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10					Oseltamivir(DB00198)	ATTTTGGCCACGGAGATGCTC	0.582																																						ENST00000375631.4																			0				kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						c.(1216-1218)Gtg>Atg		sialidase 1 (lysosomal sialidase)	Oseltamivir(DB00198)|Zanamivir(DB00558)						124.0	124.0	124.0					6																	31827528		1511	2709	4220	SO:0001583	missense	4758					cytoplasmic membrane-bounded vesicle|lysosomal lumen|lysosomal membrane|plasma membrane	exo-alpha-sialidase activity|protein binding	g.chr6:31827528C>T	AF040958	CCDS4723.1	6p21	2012-10-02			ENSG00000204386	ENSG00000204386	3.2.1.18		7758	protein-coding gene	gene with protein product		608272		NEU		9054950	Standard	NM_000434		Approved		uc003nxq.4	Q99519	OTTHUMG00000031284	ENST00000375631.4:c.1216G>A	6.37:g.31827528C>T	ENSP00000364782:p.Val406Met						p.V406M	NM_000434.3	NP_000425.1	Q99519	NEUR1_HUMAN			6	1345	-			406						Missense_Mutation	SNP	ENST00000375631.4	37	c.1216G>A	CCDS4723.1	.	.	.	.	.	.	.	.	.	.	C	0.485	-0.877843	0.02550	.	.	ENSG00000204386	ENST00000375631	D	0.84070	-1.8	5.4	-1.11	0.09840	Neuraminidase (2);	0.355674	0.32444	N	0.006100	T	0.29491	0.0735	N	0.02539	-0.55	0.09310	N	0.999998	B	0.21520	0.057	B	0.10450	0.005	T	0.43327	-0.9398	10	0.30078	T	0.28	-16.4845	1.9254	0.03316	0.1588:0.281:0.3775:0.1826	.	406	Q99519	NEUR1_HUMAN	M	406	ENSP00000364782:V406M	ENSP00000364782:V406M	V	-	1	0	NEU1	31935507	0.903000	0.30736	0.916000	0.36221	0.237000	0.25408	0.245000	0.18142	-0.436000	0.07254	-2.772000	0.00119	GTG		0.582	NEU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076616.2			39	77	0	0	0	1	0	39	77				
IDE	3416	broad.mit.edu	37	10	94239147	94239147	+	Missense_Mutation	SNP	T	T	C			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr10:94239147T>C	ENST00000265986.6	-	15	1827	c.1771A>G	c.(1771-1773)Aac>Gac	p.N591D	IDE_ENST00000371581.5_Missense_Mutation_p.N36D|IDE_ENST00000496903.1_Intron	NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	591					beta-amyloid metabolic process (GO:0050435)|bradykinin catabolic process (GO:0010815)|determination of adult lifespan (GO:0008340)|hormone catabolic process (GO:0042447)|insulin catabolic process (GO:1901143)|insulin metabolic process (GO:1901142)|insulin receptor signaling pathway (GO:0008286)|negative regulation of proteolysis (GO:0045861)|positive regulation of protein oligomerization (GO:0032461)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein homotetramerization (GO:0051289)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|ubiquitin homeostasis (GO:0010992)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|beta-amyloid binding (GO:0001540)|beta-endorphin binding (GO:0031626)|glycoprotein binding (GO:0001948)|insulin binding (GO:0043559)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					"""""""Insulin(DB00071)|Bacitracin(DB00626)|Insulin Regular(DB00030)"""	TAGGCCATGTTACAGTGCAAG	0.413																																						ENST00000265986.6																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33						c.(1771-1773)Aac>Gac		insulin-degrading enzyme	Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						160.0	137.0	145.0					10																	94239147		2203	4300	6503	SO:0001583	missense	3416				beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding	g.chr10:94239147T>C	M21188	CCDS7421.1, CCDS53554.1	10q23-q25	2007-03-27			ENSG00000119912	ENSG00000119912			5381	protein-coding gene	gene with protein product	"""insulysin"""	146680				2293021	Standard	NM_004969		Approved		uc001kia.3	P14735	OTTHUMG00000018759	ENST00000265986.6:c.1771A>G	10.37:g.94239147T>C	ENSP00000265986:p.Asn591Asp					IDE_ENST00000496903.1_Intron|IDE_ENST00000371581.5_Missense_Mutation_p.N36D	p.N591D	NM_004969.3	NP_004960.2	P14735	IDE_HUMAN			15	1827	-			591					B2R721|B7ZAU2|D3DR35|Q5T5N2	Missense_Mutation	SNP	ENST00000265986.6	37	c.1771A>G	CCDS7421.1	.	.	.	.	.	.	.	.	.	.	T	15.50	2.851841	0.51270	.	.	ENSG00000119912	ENST00000265986;ENST00000371581	T;T	0.41400	1.0;1.0	5.4	5.4	0.78164	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.105878	0.64402	D	0.000006	T	0.46367	0.1389	M	0.72353	2.195	0.80722	D	1	P	0.41450	0.75	B	0.39706	0.307	T	0.53711	-0.8400	10	0.66056	D	0.02	-15.4273	15.0949	0.72226	0.0:0.0:0.0:1.0	.	591	P14735	IDE_HUMAN	D	591;36	ENSP00000265986:N591D;ENSP00000360637:N36D	ENSP00000265986:N591D	N	-	1	0	IDE	94229127	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.272000	0.72575	2.057000	0.61298	0.533000	0.62120	AAC		0.413	IDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049393.1	NM_004969		13	77	0	0	0	1	0	13	77				
SLC25A32	81034	broad.mit.edu	37	8	104427338	104427338	+	5'Flank	SNP	G	G	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr8:104427338G>A	ENST00000297578.4	-	0	0				DCAF13_ENST00000521716.1_5'Flank|SLC25A32_ENST00000543107.1_5'Flank|DCAF13_ENST00000521971.1_5'Flank|DCAF13_ENST00000519682.1_5'Flank|DCAF13_ENST00000297579.5_Silent_p.E40E	NM_030780.3	NP_110407.2	Q9H2D1	MFTC_HUMAN	solute carrier family 25 (mitochondrial folate carrier), member 32						folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|mitochondrial transport (GO:0006839)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	folic acid transporter activity (GO:0008517)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	9			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		Folic Acid(DB00158)	CTAGTACTGAGGGGGCAAGAA	0.667																																						ENST00000297579.5																			0				NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						c.(118-120)gaG>gaA		DDB1 and CUL4 associated factor 13							40.0	38.0	39.0					8																	104427338		2203	4300	6503	SO:0001631	upstream_gene_variant	25879				rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex		g.chr8:104427338G>A	AF283645	CCDS6300.1	8q22.3	2013-05-22	2013-03-15		ENSG00000164933	ENSG00000164933		"""Solute carriers"""	29683	protein-coding gene	gene with protein product		610815	"""solute carrier family 25, member 32"""			10978331	Standard	NM_030780		Approved	MFTC	uc003yll.4	Q9H2D1	OTTHUMG00000164790		8.37:g.104427338G>A	Exception_encountered						p.E40E	NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN			1	397	+			0					Q96JZ6|Q96SU7	Silent	SNP	ENST00000297578.4	37	c.120G>A	CCDS6300.1																																																																																				0.667	SLC25A32-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380290.2	NM_030780		21	46	0	0	0	1	0	21	46				
TMPRSS6	164656	broad.mit.edu	37	22	37466596	37466596	+	Missense_Mutation	SNP	C	C	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr22:37466596C>T	ENST00000346753.3	-	15	1912	c.1796G>A	c.(1795-1797)cGa>cAa	p.R599Q	TMPRSS6_ENST00000406856.1_Missense_Mutation_p.R590Q|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.R590Q|TMPRSS6_ENST00000381792.2_Missense_Mutation_p.R590Q	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	599	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						ACAGATGTGTCGACCCCGAAC	0.672																																						ENST00000381792.2																			0				breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						c.(1768-1770)cGa>cAa		transmembrane protease, serine 6							50.0	52.0	51.0					22																	37466596		2203	4300	6503	SO:0001583	missense	164656				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity	g.chr22:37466596C>T	AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045		"""Serine peptidases / Transmembrane"""	16517	protein-coding gene	gene with protein product		609862					Standard	NM_001289000		Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000346753.3:c.1796G>A	22.37:g.37466596C>T	ENSP00000334962:p.Arg599Gln					TMPRSS6_ENST00000346753.3_Missense_Mutation_p.R599Q|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.R590Q|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.R590Q	p.R590Q			Q8IU80	TMPS6_HUMAN			15	1909	-			599			Peptidase S1.		B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Missense_Mutation	SNP	ENST00000346753.3	37	c.1769G>A	CCDS13941.1	.	.	.	.	.	.	.	.	.	.	C	11.23	1.576834	0.28092	.	.	ENSG00000187045	ENST00000381792;ENST00000346753;ENST00000406725;ENST00000406856	D;D;D;D	0.88201	-2.35;-2.35;-2.35;-2.35	5.44	4.42	0.53409	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.236643	0.34178	N	0.004198	T	0.81418	0.4818	N	0.17922	0.545	0.09310	N	0.999997	D;D	0.59767	0.986;0.983	P;P	0.50440	0.476;0.641	T	0.71600	-0.4544	10	0.06757	T	0.87	.	8.5684	0.33554	0.0:0.7697:0.0:0.2303	.	590;599	Q8IU80-5;Q8IU80	.;TMPS6_HUMAN	Q	590;599;590;590	ENSP00000371211:R590Q;ENSP00000334962:R599Q;ENSP00000385453:R590Q;ENSP00000384964:R590Q	ENSP00000334962:R599Q	R	-	2	0	TMPRSS6	35796542	0.004000	0.15560	0.986000	0.45419	0.996000	0.88848	0.428000	0.21395	1.288000	0.44600	0.591000	0.81541	CGA		0.672	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318822.1	NM_153609		5	83	0	0	0	1	0	5	83				
ZIM2	23619	broad.mit.edu	37	19	57290765	57290765	+	Missense_Mutation	SNP	C	C	G			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr19:57290765C>G	ENST00000391708.3	-	11	1264	c.722G>C	c.(721-723)aGa>aCa	p.R241T	ZIM2_ENST00000593711.1_Missense_Mutation_p.R241T|ZIM2_ENST00000599935.1_Missense_Mutation_p.R241T|AC006115.3_ENST00000597946.1_RNA|AC006115.3_ENST00000594400.1_RNA|ZIM2_ENST00000601070.1_Missense_Mutation_p.R241T|ZIM2_ENST00000221722.5_Missense_Mutation_p.R241T|AC006115.3_ENST00000595954.1_RNA	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1	Q9NZV7	ZIM2_HUMAN	zinc finger, imprinted 2	241	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		CACTGTATGTCTGCTGTCTGT	0.502																																						ENST00000391708.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(721-723)aGa>aCa		zinc finger, imprinted 2							244.0	181.0	202.0					19																	57290765		2203	4300	6503	SO:0001583	missense	23619							g.chr19:57290765C>G	AF166122	CCDS33123.1	19q13.4	2012-10-31				ENSG00000269699		"""Zinc fingers, C2H2-type"""	12875	protein-coding gene	gene with protein product							Standard	NM_015363		Approved	ZNF656		Q9NZV7		ENST00000391708.3:c.722G>C	19.37:g.57290765C>G	ENSP00000375589:p.Arg241Thr					AC006115.3_ENST00000597946.1_RNA|AC006115.3_ENST00000595954.1_RNA|AC006115.3_ENST00000594400.1_RNA|ZIM2_ENST00000593711.1_Missense_Mutation_p.R241T|ZIM2_ENST00000601070.1_Missense_Mutation_p.R241T|ZIM2_ENST00000599935.1_Missense_Mutation_p.R241T|ZIM2_ENST00000221722.5_Missense_Mutation_p.R241T	p.R241T	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1				GBM - Glioblastoma multiforme(193;0.0314)	11	1264	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)						Q2M3K1	Missense_Mutation	SNP	ENST00000391708.3	37	c.722G>C	CCDS33123.1	.	.	.	.	.	.	.	.	.	.	C	0.019	-1.460939	0.01062	.	.	ENSG00000198300	ENST00000391708;ENST00000221722	T;T	0.04809	3.55;3.55	0.158	0.158	0.14942	Krueppel-associated box (1);	.	.	.	.	T	0.02342	0.0072	N	0.05124	-0.11	.	.	.	P	0.34662	0.462	B	0.36534	0.227	T	0.47328	-0.9126	7	0.16420	T	0.52	.	.	.	.	.	241	Q9NZV7	ZIM2_HUMAN	T	241	ENSP00000375589:R241T;ENSP00000221722:R241T	ENSP00000221722:R241T	R	-	2	0	ZIM2	61982577	0.001000	0.12720	0.001000	0.08648	0.033000	0.12548	0.212000	0.17497	0.202000	0.20498	0.205000	0.17691	AGA		0.502	ZIM2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416094.2			5	156	0	0	0	1	0	5	156				
OR5D16	390144	broad.mit.edu	37	11	55606887	55606887	+	Nonsense_Mutation	SNP	T	T	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr11:55606887T>A	ENST00000378396.1	+	1	660	c.660T>A	c.(658-660)taT>taA	p.Y220*		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	220						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				TGACATCTTATGCATTCATCA	0.468																																						ENST00000378396.1																			0				cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44						c.(658-660)taT>taA		olfactory receptor, family 5, subfamily D, member 16							204.0	167.0	180.0					11																	55606887		2201	4296	6497	SO:0001587	stop_gained	390144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55606887T>A	AB065783	CCDS31512.1	11q11	2012-08-09			ENSG00000205029	ENSG00000205029		"""GPCR / Class A : Olfactory receptors"""	15283	protein-coding gene	gene with protein product							Standard	NM_001005496		Approved		uc010rio.2	Q8NGK9	OTTHUMG00000154233	ENST00000378396.1:c.660T>A	11.37:g.55606887T>A	ENSP00000367649:p.Tyr220*						p.Y220*	NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN			1	660	+		all_epithelial(135;0.208)	220					Q6IF65|Q96RB4	Nonsense_Mutation	SNP	ENST00000378396.1	37	c.660T>A	CCDS31512.1	.	.	.	.	.	.	.	.	.	.	.	15.13	2.742993	0.49151	.	.	ENSG00000205029	ENST00000378396	.	.	.	4.47	-3.57	0.04612	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-39.8548	6.7143	0.23294	0.1417:0.5468:0.0:0.3115	.	.	.	.	X	220	.	ENSP00000367649:Y220X	Y	+	3	2	OR5D16	55363463	0.000000	0.05858	0.000000	0.03702	0.457000	0.32468	-1.780000	0.01775	-0.428000	0.07339	0.433000	0.28618	TAT		0.468	OR5D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334506.1	NM_001005496		15	133	0	0	0	1	0	15	133				
KIAA1109	84162	broad.mit.edu	37	4	123225996	123225996	+	Missense_Mutation	SNP	G	G	A	rs372091378		TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr4:123225996G>A	ENST00000264501.4	+	56	9903	c.9530G>A	c.(9529-9531)aGa>aAa	p.R3177K	KIAA1109_ENST00000388738.3_Missense_Mutation_p.R3177K|KIAA1109_ENST00000455637.1_Missense_Mutation_p.R3177K			Q2LD37	K1109_HUMAN	KIAA1109	3177					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AGAGCTGTAAGATTTGAAACT	0.383																																						ENST00000264501.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						c.(9529-9531)aGa>aAa		KIAA1109							114.0	104.0	107.0					4																	123225996		1834	4093	5927	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123225996G>A	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.9530G>A	4.37:g.123225996G>A	ENSP00000264501:p.Arg3177Lys					KIAA1109_ENST00000388738.3_Missense_Mutation_p.R3177K|KIAA1109_ENST00000455637.1_Missense_Mutation_p.R3177K	p.R3177K			Q2LD37	K1109_HUMAN			56	9903	+			3177					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.9530G>A	CCDS43267.1	.	.	.	.	.	.	.	.	.	.	G	36	5.918614	0.97105	.	.	ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637	T;T;T	0.47177	0.85;0.85;0.85	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.65112	0.2660	L	0.49455	1.56	0.50467	D	0.999879	D;D	0.58268	0.974;0.982	D;D	0.70487	0.969;0.952	T	0.60161	-0.7317	10	0.41790	T	0.15	.	20.081	0.97775	0.0:0.0:1.0:0.0	.	3177;3177	Q2LD37-6;Q2LD37	.;K1109_HUMAN	K	3177	ENSP00000264501:R3177K;ENSP00000373390:R3177K;ENSP00000389925:R3177K	ENSP00000264501:R3177K	R	+	2	0	KIAA1109	123445446	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.713000	0.98740	2.753000	0.94483	0.555000	0.69702	AGA		0.383	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		31	73	0	0	0	1	0	31	73				
MFSD6	54842	broad.mit.edu	37	2	191353419	191353419	+	Missense_Mutation	SNP	C	C	G			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr2:191353419C>G	ENST00000392328.1	+	5	1991	c.1667C>G	c.(1666-1668)tCt>tGt	p.S556C	MFSD6_ENST00000535751.1_Missense_Mutation_p.S18C|MFSD6_ENST00000281416.7_Missense_Mutation_p.S556C	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6	556					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						GCATGCATTTCTTACCTCAGT	0.542																																						ENST00000392328.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						c.(1666-1668)tCt>tGt		major facilitator superfamily domain containing 6							117.0	110.0	112.0					2																	191353419		2203	4300	6503	SO:0001583	missense	54842				transmembrane transport	integral to membrane		g.chr2:191353419C>G		CCDS2306.1	2q32.2	2008-10-29			ENSG00000151690	ENSG00000151690			24711	protein-coding gene	gene with protein product		613476					Standard	NM_017694		Approved	FLJ20160	uc002urz.2	Q6ZSS7	OTTHUMG00000132671	ENST00000392328.1:c.1667C>G	2.37:g.191353419C>G	ENSP00000376141:p.Ser556Cys					MFSD6_ENST00000281416.7_Missense_Mutation_p.S556C|MFSD6_ENST00000535751.1_Missense_Mutation_p.S18C	p.S556C	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN			5	1991	+			556					D3KSZ4|Q86TH2|Q9NXM3	Missense_Mutation	SNP	ENST00000392328.1	37	c.1667C>G	CCDS2306.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.7|26.7	4.766211|4.766211	0.90020|0.90020	.|.	.|.	ENSG00000151690|ENSG00000151690	ENST00000434582|ENST00000392328;ENST00000281416;ENST00000444317;ENST00000542423;ENST00000535751	.|T;T;T;T	.|0.59083	.|0.29;0.29;0.29;0.29	5.56|5.56	5.56|5.56	0.83823|0.83823	.|Major facilitator superfamily domain, general substrate transporter (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.77110|0.77110	0.4082|0.4082	M|M	0.76170|0.76170	2.325|2.325	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	T|T	0.78758|0.78758	-0.2079|-0.2079	5|10	.|0.66056	.|D	.|0.02	-21.1339|-21.1339	18.5043|18.5043	0.90892|0.90892	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|556	.|Q6ZSS7	.|MFSD6_HUMAN	L|C	91|556;556;18;18;18	.|ENSP00000376141:S556C;ENSP00000281416:S556C;ENSP00000406837:S18C;ENSP00000440917:S18C	.|ENSP00000281416:S556C	F|S	+|+	3|2	2|0	MFSD6|MFSD6	191061664|191061664	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.895000|0.895000	0.52256|0.52256	7.766000|7.766000	0.85320|0.85320	2.615000|2.615000	0.88500|0.88500	0.655000|0.655000	0.94253|0.94253	TTC|TCT		0.542	MFSD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255931.1			4	64	0	0	0	1	0	4	64				
KLK5	25818	broad.mit.edu	37	19	51453210	51453210	+	Missense_Mutation	SNP	G	G	A	rs201524467	byFrequency	TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr19:51453210G>A	ENST00000336334.3	-	3	588	c.236C>T	c.(235-237)cCg>cTg	p.P79L	KLK5_ENST00000593428.1_Missense_Mutation_p.P79L|CTB-147C22.8_ENST00000601506.1_RNA|KLK5_ENST00000391809.2_Missense_Mutation_p.P79L|CTB-147C22.8_ENST00000594939.1_RNA	NM_012427.4	NP_036559	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5	79	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				epidermis development (GO:0008544)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)	epidermal lamellar body (GO:0097209)|extracellular space (GO:0005615)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		GGCCTGCCACGGCTGGGTGTG	0.652													G|||	3	0.000599042	0.0	0.0	5008	,	,		9081	0.003		0.0	False		,,,				2504	0.0					ENST00000336334.3																			0				NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15						c.(235-237)cCg>cTg		kallikrein-related peptidase 5							48.0	39.0	42.0					19																	51453210		2203	4300	6503	SO:0001583	missense	25818				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	g.chr19:51453210G>A	AF135028	CCDS12810.1	19q13.33	2008-02-05	2006-10-27			ENSG00000167754		"""Kallikreins"""	6366	protein-coding gene	gene with protein product		605643	"""kallikrein 5"""			10514489, 10608802, 1680072, 4, 16800723, 17012259	Standard	NM_012427		Approved	SCTE, KLK-L2	uc002puf.3	Q9Y337		ENST00000336334.3:c.236C>T	19.37:g.51453210G>A	ENSP00000337733:p.Pro79Leu					KLK5_ENST00000593428.1_Missense_Mutation_p.P79L|KLK5_ENST00000391809.2_Missense_Mutation_p.P79L	p.P79L	NM_012427.4	NP_036559.1	Q9Y337	KLK5_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)	3	588	-		all_neural(266;0.026)	79			Peptidase S1.		Q53ZR3|Q9HBG8	Missense_Mutation	SNP	ENST00000336334.3	37	c.236C>T	CCDS12810.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	g	17.58	3.424726	0.62733	.	.	ENSG00000167754	ENST00000336334;ENST00000391809	D;D	0.99105	-5.43;-5.43	4.54	0.992	0.19819	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.33092	U	0.005286	D	0.99408	0.9791	H	0.98256	4.185	0.43313	D	0.995327	D	0.89917	1.0	D	0.97110	1.0	D	0.98563	1.0642	10	0.87932	D	0	.	6.945	0.24514	0.0:0.1721:0.473:0.3549	.	79	Q9Y337	KLK5_HUMAN	L	79	ENSP00000337733:P79L;ENSP00000375685:P79L	ENSP00000337733:P79L	P	-	2	0	KLK5	56145022	0.998000	0.40836	0.112000	0.21494	0.028000	0.11728	2.844000	0.48246	0.121000	0.18284	-0.152000	0.13540	CCG		0.652	KLK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465057.1	NM_012427		8	34	0	0	0	1	0	8	34				
PPP1R12C	54776	broad.mit.edu	37	19	55623899	55623899	+	Silent	SNP	C	C	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr19:55623899C>A	ENST00000263433.3	-	3	522	c.507G>T	c.(505-507)ctG>ctT	p.L169L	PPP1R12C_ENST00000376393.2_Silent_p.L169L|PPP1R12C_ENST00000435544.2_Silent_p.L95L	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1			protein phosphatase 1, regulatory subunit 12C											central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		GGTCCAGGGGCAGGTCCCCGT	0.716																																						ENST00000263433.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22						c.(505-507)ctG>ctT		protein phosphatase 1, regulatory subunit 12C							24.0	30.0	28.0					19																	55623899		2203	4297	6500	SO:0001819	synonymous_variant	54776					cytoplasm		g.chr19:55623899C>A	AF312028	CCDS12916.1	19q13.42	2013-01-10	2011-10-04		ENSG00000125503	ENSG00000125503		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	14947	protein-coding gene	gene with protein product	"""myosin-binding subunit 85"""	613245	"""leukocyte receptor cluster (LRC) member 3"", ""protein phosphatase 1, regulatory (inhibitor) subunit 12C"""	LENG3		11399775	Standard	NM_017607		Approved	DKFZP434D0412, p84, MBS85, p85	uc002qix.4	Q9BZL4		ENST00000263433.3:c.507G>T	19.37:g.55623899C>A						PPP1R12C_ENST00000435544.2_Silent_p.L95L|PPP1R12C_ENST00000376393.2_Silent_p.L169L	p.L169L	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1	Q9BZL4	PP12C_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)	3	522	-			169						Silent	SNP	ENST00000263433.3	37	c.507G>T	CCDS12916.1																																																																																				0.716	PPP1R12C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451814.2	NM_017607		13	32	1	0	7.93312e-07	1	8.57884e-07	13	32				
OGDH	4967	broad.mit.edu	37	7	44741199	44741199	+	Missense_Mutation	SNP	G	G	C			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr7:44741199G>C	ENST00000222673.5	+	20	2659	c.2617G>C	c.(2617-2619)Gat>Cat	p.D873H	OGDH_ENST00000543843.1_Missense_Mutation_p.D824H|OGDH_ENST00000447398.1_Missense_Mutation_p.D884H|OGDH_ENST00000444676.1_Missense_Mutation_p.D888H|OGDH_ENST00000449767.1_Missense_Mutation_p.D869H|OGDH_ENST00000439616.2_Missense_Mutation_p.D723H	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	873					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	ATCCAGCTTTGATGAGATGCT	0.498																																						ENST00000222673.5																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36						c.(2617-2619)Gat>Cat		oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	NADH(DB00157)						89.0	83.0	85.0					7																	44741199		2203	4300	6503	SO:0001583	missense	4967				glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr7:44741199G>C	D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.2617G>C	7.37:g.44741199G>C	ENSP00000222673:p.Asp873His					OGDH_ENST00000449767.1_Missense_Mutation_p.D869H|OGDH_ENST00000447398.1_Missense_Mutation_p.D884H|OGDH_ENST00000444676.1_Missense_Mutation_p.D888H|OGDH_ENST00000439616.2_Missense_Mutation_p.D723H|OGDH_ENST00000543843.1_Missense_Mutation_p.D824H	p.D873H	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN			20	2659	+			873					B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Missense_Mutation	SNP	ENST00000222673.5	37	c.2617G>C	CCDS34627.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.505409	0.85282	.	.	ENSG00000105953	ENST00000439616;ENST00000449767;ENST00000447398;ENST00000444676;ENST00000222673;ENST00000543843	T;T;T;T;T;T	0.12774	2.65;2.65;2.65;2.65;2.65;2.65	4.82	4.82	0.62117	.	0.045401	0.85682	D	0.000000	T	0.33265	0.0857	M	0.77820	2.39	0.80722	D	1	P;P;P;P;P	0.52577	0.92;0.904;0.954;0.954;0.921	P;P;P;P;P	0.54924	0.687;0.764;0.687;0.687;0.687	T	0.08146	-1.0736	10	0.62326	D	0.03	-32.6774	17.1907	0.86878	0.0:0.0:1.0:0.0	.	668;723;869;884;873	B4E3E9;E9PFG7;E9PBM1;E9PDF2;Q02218	.;.;.;.;ODO1_HUMAN	H	723;869;884;888;873;824	ENSP00000398576:D723H;ENSP00000392878:D869H;ENSP00000388183:D884H;ENSP00000414662:D888H;ENSP00000222673:D873H;ENSP00000443821:D824H	ENSP00000222673:D873H	D	+	1	0	OGDH	44707724	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	9.482000	0.97935	2.668000	0.90789	0.591000	0.81541	GAT		0.498	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1			13	36	0	0	0	1	0	13	36				
EPPK1	83481	broad.mit.edu	37	8	144940707	144940707	+	Missense_Mutation	SNP	G	G	A	rs527298231		TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr8:144940707G>A	ENST00000525985.1	-	2	6786	c.6715C>T	c.(6715-6717)Cgc>Tgc	p.R2239C				P58107	EPIPL_HUMAN	epiplakin 1	2239						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TTCTCCTGGCGGCCGGGCTGG	0.701													G|||	1	0.000199681	0.0008	0.0	5008	,	,		79841	0.0		0.0	False		,,,				2504	0.0					ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(6715-6717)Cgc>Tgc		epiplakin 1							62.0	63.0	62.0					8																	144940707		2173	4241	6414	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144940707G>A	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6715C>T	8.37:g.144940707G>A	ENSP00000436337:p.Arg2239Cys						p.R2239C			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	6786	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		2239					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.6715C>T		.	.	.	.	.	.	.	.	.	.	G	18.96	3.732908	0.69189	.	.	ENSG00000227184	ENST00000525985	T	0.73789	-0.78	4.67	2.75	0.32379	.	.	.	.	.	T	0.78272	0.4257	L	0.38175	1.15	0.29600	N	0.847721	D	0.89917	1.0	D	0.69479	0.964	T	0.72017	-0.4417	9	0.56958	D	0.05	.	11.4622	0.50217	0.0:0.0:0.6776:0.3223	.	2239	E9PPU0	.	C	2239	ENSP00000436337:R2239C	ENSP00000436337:R2239C	R	-	1	0	EPPK1	145012695	.	.	0.869000	0.34112	0.977000	0.68977	.	.	1.154000	0.42482	0.591000	0.81541	CGC		0.701	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		8	247	0	0	0	1	0	8	247				
ITGAE	3682	broad.mit.edu	37	17	3638150	3638150	+	Missense_Mutation	SNP	C	C	G			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr17:3638150C>G	ENST00000263087.4	-	21	2714	c.2616G>C	c.(2614-2616)ttG>ttC	p.L872F	ITGAE_ENST00000571185.1_5'UTR	NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	872					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	external side of plasma membrane (GO:0009897)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		TGGGGTAATTCAAGGCCATGC	0.542																																					NSCLC(182;635 2928 8995 38788)	ENST00000263087.4																			0				NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(2614-2616)ttG>ttC		integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)							274.0	254.0	261.0					17																	3638150		2203	4300	6503	SO:0001583	missense	3682				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr17:3638150C>G	L25851	CCDS32531.1	17p13	2010-03-23				ENSG00000083457		"""CD molecules"", ""Integrins"""	6147	protein-coding gene	gene with protein product		604682				8119947	Standard	NM_002208		Approved	CD103, HUMINAE	uc002fwo.4	P38570		ENST00000263087.4:c.2616G>C	17.37:g.3638150C>G	ENSP00000263087:p.Leu872Phe					ITGAE_ENST00000571185.1_5'UTR	p.L872F	NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)	21	2714	-			872					Q17RS6|Q9NZU9	Missense_Mutation	SNP	ENST00000263087.4	37	c.2616G>C	CCDS32531.1	.	.	.	.	.	.	.	.	.	.	C	10.59	1.392335	0.25118	.	.	ENSG00000083457	ENST00000263087	T	0.50548	0.74	5.05	2.99	0.34606	Integrin alpha-2 (1);	.	.	.	.	T	0.54935	0.1889	L	0.55103	1.725	0.22479	N	0.999065	D	0.69078	0.997	D	0.65874	0.939	T	0.41233	-0.9520	9	0.17832	T	0.49	.	6.9468	0.24522	0.0:0.7278:0.1764:0.0958	.	872	P38570	ITAE_HUMAN	F	872	ENSP00000263087:L872F	ENSP00000263087:L872F	L	-	3	2	ITGAE	3584899	0.175000	0.23083	0.548000	0.28192	0.559000	0.35586	0.868000	0.27982	0.611000	0.30052	0.603000	0.83216	TTG		0.542	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438169.1	NM_002208		77	166	0	0	0	1	0	77	166				
LRRN3	54674	broad.mit.edu	37	7	110764692	110764692	+	Missense_Mutation	SNP	G	G	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr7:110764692G>A	ENST00000422987.3	+	2	2695	c.1864G>A	c.(1864-1866)Gaa>Aaa	p.E622K	IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000415362.1_Intron|LRRN3_ENST00000451085.1_Missense_Mutation_p.E622K|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000489381.1_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.E622K|IMMP2L_ENST00000450877.1_Intron	NM_018334.4	NP_060804.3	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	622					positive regulation of protein phosphorylation (GO:0001934)	clathrin adaptor complex (GO:0030131)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		AAAAGAGTATGAAAAGAATAA	0.378																																						ENST00000451085.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55						c.(1864-1866)Gaa>Aaa		leucine rich repeat neuronal 3							66.0	67.0	67.0					7																	110764692		2203	4300	6503	SO:0001583	missense	54674					integral to membrane		g.chr7:110764692G>A	AB060967	CCDS5754.1	7q31.1	2013-02-11			ENSG00000173114	ENSG00000173114		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17200	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 5"""					11549284	Standard	NM_001099660		Approved	NLRR3, FLJ11129, FIGLER5	uc003vfs.4	Q9H3W5	OTTHUMG00000155039	ENST00000422987.3:c.1864G>A	7.37:g.110764692G>A	ENSP00000412417:p.Glu622Lys					LRRN3_ENST00000308478.5_Missense_Mutation_p.E622K|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000437687.1_Intron|LRRN3_ENST00000422987.3_Missense_Mutation_p.E622K|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000452895.1_Intron	p.E622K	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)	4	2910	+			622					O43377|Q6I9V8|Q8IYQ6	Missense_Mutation	SNP	ENST00000422987.3	37	c.1864G>A	CCDS5754.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.068858	0.76301	.	.	ENSG00000173114	ENST00000308478;ENST00000451085;ENST00000422987	T;T;T	0.42513	0.97;0.97;0.97	5.07	4.16	0.48862	.	0.247838	0.28618	N	0.014718	T	0.36468	0.0968	L	0.56769	1.78	0.36436	D	0.865209	B	0.02656	0.0	B	0.01281	0.0	T	0.35599	-0.9782	10	0.10636	T	0.68	.	13.0214	0.58789	0.0804:0.0:0.9196:0.0	.	622	Q9H3W5	LRRN3_HUMAN	K	622	ENSP00000312001:E622K;ENSP00000397312:E622K;ENSP00000412417:E622K	ENSP00000312001:E622K	E	+	1	0	LRRN3	110551928	0.999000	0.42202	0.253000	0.24343	0.827000	0.46813	3.096000	0.50243	1.469000	0.48083	0.650000	0.86243	GAA		0.378	LRRN3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338171.2	NM_018334		15	49	0	0	0	1	0	15	49				
RING1	6015	broad.mit.edu	37	6	33179753	33179753	+	Missense_Mutation	SNP	A	A	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr6:33179753A>T	ENST00000374656.4	+	6	1301	c.1093A>T	c.(1093-1095)Atc>Ttc	p.I365F	RING1_ENST00000478431.1_3'UTR	NM_002931.3	NP_002922.2	Q06587	RING1_HUMAN	ring finger protein 1	365	Gly-rich.|Necessary for interaction with CBX2. {ECO:0000250}.				anterior/posterior pattern specification (GO:0009952)|camera-type eye morphogenesis (GO:0048593)|histone H2A monoubiquitination (GO:0035518)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						CACCATCTACATCGCACCTGG	0.637																																						ENST00000374656.4																			0				endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						c.(1093-1095)Atc>Ttc		ring finger protein 1							17.0	20.0	19.0					6																	33179753		2190	4285	6475	SO:0001583	missense	6015				histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear speck|PcG protein complex	protein binding|zinc ion binding	g.chr6:33179753A>T		CCDS34424.1	6p21.3	2013-01-09			ENSG00000204227	ENSG00000204227		"""RING-type (C3HC4) zinc fingers"""	10018	protein-coding gene	gene with protein product		602045				1906426	Standard	NM_002931		Approved	RNF1	uc003odk.3	Q06587	OTTHUMG00000031278	ENST00000374656.4:c.1093A>T	6.37:g.33179753A>T	ENSP00000363787:p.Ile365Phe					RING1_ENST00000478431.1_3'UTR	p.I365F	NM_002931.3	NP_002922.2	Q06587	RING1_HUMAN			6	1301	+			365			Gly-rich.|Necessary for interaction with CBX2 (By similarity).		A8JZZ0|Q5JP96|Q5SQW2|Q86V19	Missense_Mutation	SNP	ENST00000374656.4	37	c.1093A>T	CCDS34424.1	.	.	.	.	.	.	.	.	.	.	A	13.61	2.288557	0.40494	.	.	ENSG00000204227	ENST00000374656	D	0.89123	-2.47	4.36	4.36	0.52297	.	0.000000	0.64402	D	0.000001	D	0.89114	0.6623	L	0.45352	1.415	0.51233	D	0.999912	D	0.65815	0.995	D	0.70487	0.969	D	0.90678	0.4603	10	0.87932	D	0	-14.132	11.5515	0.50723	1.0:0.0:0.0:0.0	.	365	Q06587	RING1_HUMAN	F	365	ENSP00000363787:I365F	ENSP00000363787:I365F	I	+	1	0	RING1	33287731	1.000000	0.71417	0.924000	0.36721	0.219000	0.24729	6.932000	0.75869	1.799000	0.52666	0.450000	0.29827	ATC		0.637	RING1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076609.2			7	8	0	0	0	1	0	7	8				
SNHG14	104472715	broad.mit.edu	37	15	25322114	25322114	+	RNA	SNP	G	G	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr15:25322114G>T	ENST00000549804.2	+	0	1220				SNORD116-13_ENST00000384408.1_RNA|SNORD116-11_ENST00000383882.1_RNA|SNORD116-12_ENST00000384468.1_RNA|SNORD116-10_ENST00000363791.1_RNA|SNHG14_ENST00000551077.1_RNA					small nucleolar RNA host gene 14 (non-protein coding)																		GGCTCCTTCAGAGGCTTTTGG	0.493																																						ENST00000549804.2																			0																																																			104472715							g.chr15:25322114G>T			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25322114G>T														0	1220	+									RNA	SNP	ENST00000549804.2	37																																																																																						0.493	SNHG14-012	KNOWN	non_canonical_other|basic	antisense	processed_transcript	OTTHUMT00000408278.2			7	32	1	0	0.00198382	1	0.00205757	7	32				
PLEKHS1	79949	broad.mit.edu	37	10	115540420	115540420	+	Silent	SNP	T	T	C			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr10:115540420T>C	ENST00000354462.3	+	6	635	c.477T>C	c.(475-477)tgT>tgC	p.C159C	PLEKHS1_ENST00000361048.1_3'UTR|PLEKHS1_ENST00000369312.4_Silent_p.C327C|PLEKHS1_ENST00000369309.1_Silent_p.C243C			Q5SXH7	PKHS1_HUMAN	pleckstrin homology domain containing, family S member 1	423																	CTGCATCCTGTATGTGTCCCT	0.438																																						ENST00000354462.3																			0											c.(475-477)tgT>tgC		pleckstrin homology domain containing, family S member 1							94.0	79.0	83.0					10																	115540420		692	1591	2283	SO:0001819	synonymous_variant	79949							g.chr10:115540420T>C	AK027190	CCDS7583.1, CCDS53580.1, CCDS53581.1	10q26.11	2013-01-11	2012-05-31	2012-05-31	ENSG00000148735	ENSG00000148735		"""Pleckstrin homology (PH) domain containing"""	26285	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 81"""	C10orf81		12477932	Standard	NM_024889		Approved	FLJ23537, bA211N11.2	uc001lat.2	Q5SXH7	OTTHUMG00000019074	ENST00000354462.3:c.477T>C	10.37:g.115540420T>C						PLEKHS1_ENST00000369309.1_Silent_p.C243C|PLEKHS1_ENST00000361048.1_3'UTR|PLEKHS1_ENST00000369312.4_Silent_p.C327C	p.C159C							6	635	+								A8KA02|B3KX00|B6EDE1|Q5SXH8|Q5SXI0|Q6ZQR5|Q8NE42|Q9H5D9	Silent	SNP	ENST00000354462.3	37	c.477T>C																																																																																					0.438	PLEKHS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050431.2	NM_024889		15	45	0	0	0	1	0	15	45				
TRPS1	7227	broad.mit.edu	37	8	116632271	116632271	+	Missense_Mutation	SNP	C	C	G			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr8:116632271C>G	ENST00000220888.5	-	2	174	c.15G>C	c.(13-15)aaG>aaC	p.K5N	TRPS1_ENST00000519076.1_Missense_Mutation_p.K5N|TRPS1_ENST00000520276.1_Missense_Mutation_p.K9N|TRPS1_ENST00000519674.1_Missense_Mutation_p.K5N|TRPS1_ENST00000395715.3_Missense_Mutation_p.K18N			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	5					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.K5N(1)|p.K5K(1)|p.K18K(1)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GAGGGGGGTTCTTTTTCCGGA	0.413									Langer-Giedion syndrome																													ENST00000395715.3																			3	Substitution - coding silent(2)|Substitution - Missense(1)	p.K5N(1)|p.K5K(1)|p.K18K(1)	lung(2)|large_intestine(1)	autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111						c.(52-54)aaG>aaC		trichorhinophalangeal syndrome I							57.0	54.0	55.0					8																	116632271		1836	4086	5922	SO:0001583	missense	7227	Langer-Giedion syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:116632271C>G	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.15G>C	8.37:g.116632271C>G	ENSP00000220888:p.Lys5Asn					TRPS1_ENST00000519076.1_Missense_Mutation_p.K5N|TRPS1_ENST00000520276.1_Missense_Mutation_p.K9N|TRPS1_ENST00000220888.5_Missense_Mutation_p.K5N|TRPS1_ENST00000519674.1_Missense_Mutation_p.K5N	p.K18N	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		3	631	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		5					B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	37	c.54G>C		.	.	.	.	.	.	.	.	.	.	C	20.8	4.043274	0.75732	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276;ENST00000519674;ENST00000395713;ENST00000519815;ENST00000422939	D;D;D;D;T	0.99287	-5.39;-5.35;-5.69;-5.36;0.43	5.82	5.82	0.92795	.	0.000000	0.64402	D	0.000001	D	0.98912	0.9631	L	0.27053	0.805	0.80722	D	1	D;D;D	0.76494	0.989;0.981;0.999	D;D;D	0.80764	0.985;0.966;0.994	D	0.99939	1.1387	10	0.87932	D	0	0.0788	20.0966	0.97849	0.0:1.0:0.0:0.0	.	9;5;18	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	N	18;5;5;9;5;18;18;18	ENSP00000379065:K18N;ENSP00000220888:K5N;ENSP00000428910:K5N;ENSP00000428680:K9N;ENSP00000429174:K5N	ENSP00000220888:K5N	K	-	3	2	TRPS1	116701446	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.272000	0.78516	2.751000	0.94390	0.650000	0.86243	AAG		0.413	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112		26	53	0	0	0	1	0	26	53				
MROH8	140699	broad.mit.edu	37	20	35731160	35731160	+	Missense_Mutation	SNP	G	G	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr20:35731160G>A	ENST00000400441.3	-	24	3058	c.3059C>T	c.(3058-3060)gCg>gTg	p.A1020V	MROH8_ENST00000441008.2_3'UTR|MROH8_ENST00000466091.1_5'UTR|MROH8_ENST00000217333.8_Missense_Mutation_p.A849V			Q9H579	MROH8_HUMAN	maestro heat-like repeat family member 8	0																	TTCGGCCCTCGCCATCTGGAC	0.527																																						ENST00000400441.3																			0											c.(3058-3060)gCg>gTg		maestro heat-like repeat family member 8							207.0	200.0	202.0					20																	35731160		1997	4169	6166	SO:0001583	missense	140699							g.chr20:35731160G>A	AL136172		20q11.22	2012-12-19	2012-12-19	2012-12-19	ENSG00000101353	ENSG00000101353		"""maestro heat-like repeat containing"""	16125	protein-coding gene	gene with protein product	"""hypothetical protein LOC140699"""		"""chromosome 20 open reading frame 131"", ""chromosome 20 open reading frame 132"""	C20orf131, C20orf132		11780052, 15635413	Standard	NM_152503		Approved	dJ621N11.4, dJ621N11.3	uc010zvu.2	Q9H579	OTTHUMG00000032407	ENST00000400441.3:c.3059C>T	20.37:g.35731160G>A	ENSP00000383291:p.Ala1020Val					MROH8_ENST00000441008.2_3'UTR|MROH8_ENST00000217333.8_Missense_Mutation_p.A849V|MROH8_ENST00000466091.1_5'UTR	p.A1020V							24	3058	-								Q5JYQ6	Missense_Mutation	SNP	ENST00000400441.3	37	c.3059C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.005|3.005	-0.205203|-0.205203	0.06180|0.06180	.|.	.|.	ENSG00000101353|ENSG00000101353	ENST00000400441;ENST00000217333|ENST00000343811	T;T|.	0.03663|.	4.42;3.85|.	5.42|5.42	-1.9|-1.9	0.07665|0.07665	.|.	0.933841|.	0.09009|.	N|.	0.861781|.	T|.	0.13841|.	0.0335|.	N|N	0.02960|0.02960	-0.455|-0.455	0.09310|0.09310	N|N	1|1	B;B|.	0.22211|.	0.066;0.009|.	B;B|.	0.12156|.	0.006;0.007|.	T|.	0.31696|.	-0.9934|.	10|.	0.02654|.	T|.	1|.	0.4051|0.4051	10.3639|10.3639	0.44012|0.44012	0.3537:0.0:0.6463:0.0|0.3537:0.0:0.6463:0.0	.|.	1020;854|.	E7ETR9;Q9H579-2|.	.;.|.	V|X	1020;849|1047	ENSP00000383291:A1020V;ENSP00000217333:A849V|.	ENSP00000217333:A849V|.	A|R	-|-	2|1	0|2	C20orf132|C20orf132	35164574|35164574	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.014000|0.014000	0.08584|0.08584	-0.368000|-0.368000	0.07543|0.07543	-0.234000|-0.234000	0.09782|0.09782	-0.474000|-0.474000	0.04947|0.04947	GCG|CGA		0.527	MROH8-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_152503		42	274	0	0	0	1	0	42	274				
PRPF40A	55660	broad.mit.edu	37	2	153532918	153532918	+	Splice_Site	SNP	C	C	G			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr2:153532918C>G	ENST00000410080.1	-	10	1573		c.e10+1			NM_017892.3	NP_060362.3	O75400	PR40A_HUMAN	PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae)						cell cycle (GO:0007049)|cell division (GO:0051301)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|mRNA processing (GO:0006397)|regulation of cell shape (GO:0008360)|regulation of cytokinesis (GO:0032465)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.?(3)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|urinary_tract(1)	21						ACTAAACTTACTCAGCTACAG	0.333																																						ENST00000410080.1																			3	Unknown(3)	p.?(3)	lung(3)	endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|urinary_tract(1)	21						c.e10+1		PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae)							52.0	48.0	49.0					2																	153532918		1843	4084	5927	SO:0001630	splice_region_variant	55660				mRNA processing|RNA splicing	nuclear matrix|nuclear speck	protein binding	g.chr2:153532918C>G	AF049523	CCDS46430.1	2q23.3	2010-01-25	2007-01-12	2006-01-13	ENSG00000196504	ENSG00000196504			16463	protein-coding gene	gene with protein product		612941	"""formin-binding protein 3"", ""formin binding protein 3"", ""PRP40 pre-mRNA processing factor 40 homolog A (yeast)"""	FNBP3		9724750, 12460579	Standard	NM_017892		Approved	FLJ20585, FBP11, HYPA, NY-REN-6, HIP10, FBP-11, FLAF1, Prp40	uc002tyh.4	O75400	OTTHUMG00000154031	ENST00000410080.1:c.1031+1G>C	2.37:g.153532918C>G								NM_017892.3	NP_060362.3	O75400	PR40A_HUMAN			10	1573	-								O43856|O75404|Q8TBQ1|Q9H782|Q9NWU9|Q9P0Q2|Q9Y5A8	Splice_Site	SNP	ENST00000410080.1	37		CCDS46430.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.65|16.65	3.182745|3.182745	0.57800|0.57800	.|.	.|.	ENSG00000196504|ENSG00000196504	ENST00000410080;ENST00000356402;ENST00000440252;ENST00000359961;ENST00000545856|ENST00000493468	.|.	.|.	.|.	5.49|5.49	4.62|4.62	0.57501|0.57501	.|.	.|.	.|.	.|.	.|.	.|T	.|0.34513	.|0.0900	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.15752	.|-1.0426	.|5	.|0.02654	.|T	.|1	.|.	12.2518|12.2518	0.54601|0.54601	0.0:0.9204:0.0:0.0796|0.0:0.9204:0.0:0.0796	.|.	.|.	.|.	.|.	.|D	-1|346	.|.	.|ENSP00000441656:E346D	.|E	-|-	.|3	.|2	PRPF40A|PRPF40A	153241164|153241164	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.904000|0.904000	0.53231|0.53231	4.409000|4.409000	0.59768|0.59768	1.332000|1.332000	0.45431|0.45431	-0.262000|-0.262000	0.10625|0.10625	.|GAG		0.333	PRPF40A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333559.2	XM_371575	Intron	6	5	0	0	0	1	0	6	5				
ARFGEF2	10564	broad.mit.edu	37	20	47605040	47605040	+	Missense_Mutation	SNP	A	A	G			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr20:47605040A>G	ENST00000371917.4	+	18	2374	c.2374A>G	c.(2374-2376)Atg>Gtg	p.M792V		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	792					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			AAAAAATAAAATGACGAAAGA	0.299																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)	ENST00000371917.4																			0				breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63						c.(2374-2376)Atg>Gtg		ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)							38.0	42.0	41.0					20																	47605040		2184	4290	6474	SO:0001583	missense	10564				exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity	g.chr20:47605040A>G	AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"""A-kinase anchor proteins"""	15853	protein-coding gene	gene with protein product	"""Brefeldin A-inhibited guanine nucleotide-exchange protein 2"""	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.2374A>G	20.37:g.47605040A>G	ENSP00000360985:p.Met792Val						p.M792V	NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)		18	2374	+			792					Q5TFT9|Q9NTS1	Missense_Mutation	SNP	ENST00000371917.4	37	c.2374A>G	CCDS13411.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.358357	0.82243	.	.	ENSG00000124198	ENST00000538445;ENST00000371917	T	0.62941	-0.01	5.73	5.73	0.89815	SEC7-like, alpha orthogonal bundle (1);Armadillo-type fold (1);SEC7-like (4);	0.000000	0.85682	D	0.000000	D	0.83852	0.5344	H	0.98314	4.2	0.80722	D	1	P	0.50443	0.935	P	0.52646	0.705	D	0.90232	0.4280	10	0.87932	D	0	.	16.3265	0.82983	1.0:0.0:0.0:0.0	.	792	Q9Y6D5	BIG2_HUMAN	V	792	ENSP00000360985:M792V	ENSP00000360985:M792V	M	+	1	0	ARFGEF2	47038447	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.287000	0.95975	2.313000	0.78055	0.455000	0.32223	ATG		0.299	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420		63	62	0	0	0	1	0	63	62				
NFU1	27247	broad.mit.edu	37	2	69623404	69623404	+	Missense_Mutation	SNP	C	C	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr2:69623404C>T	ENST00000410022.2	-	8	944	c.739G>A	c.(739-741)Gat>Aat	p.D247N	NFU1_ENST00000394305.1_Missense_Mutation_p.D106N|NFU1_ENST00000471185.1_5'UTR|NFU1_ENST00000462320.1_Missense_Mutation_p.D106N|NFU1_ENST00000303698.3_Missense_Mutation_p.D223N	NM_001002755.2	NP_001002755.1	Q9UMS0	NFU1_HUMAN	NFU1 iron-sulfur cluster scaffold	247					iron-sulfur cluster assembly (GO:0016226)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|iron ion binding (GO:0005506)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	7						TCTTTTTCATCTGATTCATCA	0.254																																						ENST00000410022.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	7						c.(739-741)Gat>Aat		NFU1 iron-sulfur cluster scaffold homolog (S. cerevisiae)							90.0	90.0	90.0					2																	69623404		2202	4290	6492	SO:0001583	missense	27247				iron-sulfur cluster assembly	cytosol|mitochondrion|nucleus	4 iron, 4 sulfur cluster binding|iron ion binding|protein binding	g.chr2:69623404C>T	AJ132584	CCDS33217.1, CCDS42694.1, CCDS46315.1	2p15-p13	2014-07-03	2014-07-03	2006-10-24	ENSG00000169599	ENSG00000169599			16287	protein-coding gene	gene with protein product		608100	"""HIRA interacting protein 5"", ""NFU1 iron-sulfur cluster scaffold homolog (S. cerevisiae)"""	HIRIP5		11342215, 12886008	Standard	NR_045631		Approved	CGI-33, NifU, NIFUC	uc002sfk.3	Q9UMS0	OTTHUMG00000152668	ENST00000410022.2:c.739G>A	2.37:g.69623404C>T	ENSP00000387219:p.Asp247Asn					NFU1_ENST00000471185.1_5'UTR|NFU1_ENST00000462320.1_Missense_Mutation_p.D106N|NFU1_ENST00000394305.1_Missense_Mutation_p.D106N|NFU1_ENST00000303698.3_Missense_Mutation_p.D223N	p.D247N	NM_001002755.2	NP_001002755.1	Q9UMS0	NFU1_HUMAN			8	944	-			247					B4DUL9|Q53QE5|Q6VNZ8|Q7Z5B1|Q7Z5B2|Q9Y322	Missense_Mutation	SNP	ENST00000410022.2	37	c.739G>A	CCDS33217.1	.	.	.	.	.	.	.	.	.	.	C	14.63	2.593253	0.46214	.	.	ENSG00000169599	ENST00000410022;ENST00000303698;ENST00000394305;ENST00000462320	T;T;T;T	0.77489	-0.14;-0.12;-1.1;-1.1	5.25	4.37	0.52481	.	0.360362	0.31709	N	0.007191	T	0.66587	0.2804	L	0.34521	1.04	0.34281	D	0.682173	B	0.15141	0.012	B	0.13407	0.009	T	0.70795	-0.4775	10	0.51188	T	0.08	-16.2243	9.9326	0.41532	0.0:0.9081:0.0:0.0919	.	247	Q9UMS0	NFU1_HUMAN	N	247;223;106;106	ENSP00000387219:D247N;ENSP00000306965:D223N;ENSP00000377842:D106N;ENSP00000418598:D106N	ENSP00000306965:D223N	D	-	1	0	NFU1	69476908	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.084000	0.41625	1.578000	0.49821	0.655000	0.94253	GAT		0.254	NFU1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327279.3	NM_015700		15	140	0	0	0	1	0	15	140				
NPFFR2	10886	broad.mit.edu	37	4	72897781	72897781	+	Missense_Mutation	SNP	G	G	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr4:72897781G>A	ENST00000308744.6	+	1	261	c.163G>A	c.(163-165)Gcg>Acg	p.A55T	NPFFR2_ENST00000344413.5_Missense_Mutation_p.A55T	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	55					detection of abiotic stimulus (GO:0009582)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of adenylate cyclase activity (GO:0045761)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of MAPK cascade (GO:0043408)	actin cytoskeleton (GO:0015629)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			CAGGCAGTCCGCGGGGGACAG	0.677																																						ENST00000308744.6																			0				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.(163-165)Gcg>Acg		neuropeptide FF receptor 2							28.0	33.0	31.0					4																	72897781		2203	4300	6503	SO:0001583	missense	10886				detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity	g.chr4:72897781G>A	AF236083	CCDS3551.1, CCDS3552.1, CCDS47072.1	4q21	2012-08-10	2006-02-15	2006-02-15	ENSG00000056291	ENSG00000056291		"""GPCR / Class A :  Neuropeptide receptors : FF/AF"", ""GPCR / Class A : RF amide peptide receptors"""	4525	protein-coding gene	gene with protein product	"""neuropeptide FF 2"""	607449	"""G protein-coupled receptor 74"""	GPR74		10079187, 10851242	Standard	NM_001144756		Approved	NPFF2, NPGPR	uc003hgg.2	Q9Y5X5	OTTHUMG00000129918	ENST00000308744.6:c.163G>A	4.37:g.72897781G>A	ENSP00000307822:p.Ala55Thr					NPFFR2_ENST00000344413.5_Missense_Mutation_p.A55T	p.A55T	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)		1	261	+			55					Q96RV1|Q9NR49	Missense_Mutation	SNP	ENST00000308744.6	37	c.163G>A	CCDS3551.1	.	.	.	.	.	.	.	.	.	.	G	9.753	1.168105	0.21621	.	.	ENSG00000056291	ENST00000308744;ENST00000344413	T	0.75260	-0.92	1.55	-1.34	0.09143	.	.	.	.	.	T	0.44540	0.1298	N	0.08118	0	0.09310	N	1	B	0.26120	0.142	B	0.08055	0.003	T	0.18808	-1.0325	9	0.24483	T	0.36	.	2.3007	0.04162	0.2099:0.0:0.3799:0.4102	.	55	Q9Y5X5	NPFF2_HUMAN	T	55	ENSP00000307822:A55T	ENSP00000307822:A55T	A	+	1	0	NPFFR2	73116645	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.631000	0.05496	-0.399000	0.07668	-0.671000	0.03813	GCG		0.677	NPFFR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252170.2	NM_004885		14	23	0	0	0	1	0	14	23				
RP11-344E13.3	0	broad.mit.edu	37	17	20805554	20805554	+	RNA	SNP	G	G	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr17:20805554G>T	ENST00000577537.1	+	0	738				RP11-344E13.3_ENST00000439794.2_RNA|RP11-344E13.3_ENST00000417232.2_RNA|RP11-344E13.3_ENST00000583962.1_RNA|RP11-344E13.3_ENST00000577860.1_RNA																							TACATTTAAAGGATAGCCCGG	0.517																																						ENST00000577537.1																			0																																																			0							g.chr17:20805554G>T																													17.37:g.20805554G>T						RP11-344E13.3_ENST00000439794.2_RNA|RP11-344E13.3_ENST00000583962.1_RNA|RP11-344E13.3_ENST00000577860.1_RNA|RP11-344E13.3_ENST00000417232.2_RNA								0	738	+									RNA	SNP	ENST00000577537.1	37																																																																																						0.517	RP11-344E13.3-001	KNOWN	basic	antisense	antisense	OTTHUMT00000444041.1			62	171	1	0	1.7104e-27	1	1.96379e-27	62	171				
MUC5B	727897	broad.mit.edu	37	11	1267341	1267341	+	Silent	SNP	C	C	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr11:1267341C>T	ENST00000529681.1	+	31	9289	c.9231C>T	c.(9229-9231)acC>acT	p.T3077T	MUC5B_ENST00000447027.1_Silent_p.T3080T|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3077	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.T3056T(1)|p.T3077T(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TTGGGACCACCGGGACCCTCC	0.602																																						ENST00000447027.1																			2	Substitution - coding silent(2)	p.T3056T(1)|p.T3077T(1)	lung(2)	cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(9238-9240)acC>acT		mucin 5B, oligomeric mucus/gel-forming							151.0	167.0	162.0					11																	1267341		2084	4195	6279	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1267341C>T	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.9231C>T	11.37:g.1267341C>T						RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Silent_p.T3077T	p.T3080T			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	9298	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	3077	LPEQTTT -> SQNRPPH (in Ref. 4; CAA96577).|Missing (in Ref. 6; AAB61398).		17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.9240C>T	CCDS44515.2																																																																																				0.602	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		27	71	0	0	0	1	0	27	71				
WDR7	23335	broad.mit.edu	37	18	54606602	54606602	+	Missense_Mutation	SNP	G	G	C	rs140089798		TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr18:54606602G>C	ENST00000254442.3	+	25	4253	c.4042G>C	c.(4042-4044)Gaa>Caa	p.E1348Q	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Missense_Mutation_p.E1315Q	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1348					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		AGGTCTTCAAGAATGTTTCCC	0.303													G|||	1	0.000199681	0.0	0.0014	5008	,	,		15357	0.0		0.0	False		,,,				2504	0.0					ENST00000254442.3																			0				NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78						c.(4042-4044)Gaa>Caa		WD repeat domain 7		G	GLN/GLU,GLN/GLU	0,4406		0,0,2203	49.0	51.0	50.0		4042,3943	4.9	1.0	18	dbSNP_134	50	9,8585	7.1+/-27.0	0,9,4288	yes	missense,missense	WDR7	NM_015285.2,NM_052834.2	29,29	0,9,6491	CC,CG,GG		0.1047,0.0,0.0692	probably-damaging,probably-damaging	1348/1491,1315/1458	54606602	9,12991	2203	4297	6500	SO:0001583	missense	23335							g.chr18:54606602G>C	AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"""WD repeat domain containing"""	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.4042G>C	18.37:g.54606602G>C	ENSP00000254442:p.Glu1348Gln					WDR7_ENST00000357574.3_Missense_Mutation_p.E1315Q|WDR7_ENST00000589935.1_Intron	p.E1348Q	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN		Lung(128;0.0238)|Colorectal(16;0.0296)	25	4253	+			1348					A7E2C8|Q86UX5|Q86VP2|Q96PS7	Missense_Mutation	SNP	ENST00000254442.3	37	c.4042G>C	CCDS11962.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	25.2	4.613446	0.87359	0.0	0.001047	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000444065;ENST00000398311	T;T	0.68331	-0.3;-0.32	4.9	4.9	0.64082	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.80439	0.4623	M	0.71581	2.175	0.80722	D	1	D;D	0.57899	0.967;0.981	P;D	0.67900	0.673;0.954	T	0.81178	-0.1051	10	0.46703	T	0.11	.	17.6993	0.88290	0.0:0.0:1.0:0.0	.	1315;1348	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	Q	1348;1315;673;1315	ENSP00000254442:E1348Q;ENSP00000350187:E1315Q	ENSP00000254442:E1348Q	E	+	1	0	WDR7	52757600	1.000000	0.71417	0.960000	0.40013	0.969000	0.65631	7.846000	0.86887	2.258000	0.74832	0.650000	0.86243	GAA		0.303	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1			15	146	0	0	0	1	0	15	146				
PLXNA1	5361	broad.mit.edu	37	3	126707991	126707991	+	Silent	SNP	C	C	G			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr3:126707991C>G	ENST00000393409.2	+	1	555	c.555C>G	c.(553-555)ctC>ctG	p.L185L	PLXNA1_ENST00000251772.4_Silent_p.L162L	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	185	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		AGGCCAAGCTCTTCGTGGGCA	0.652																																						ENST00000393409.2																			0				breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67						c.(553-555)ctC>ctG		plexin A1							43.0	41.0	42.0					3																	126707991		2203	4300	6503	SO:0001819	synonymous_variant	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126707991C>G	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.555C>G	3.37:g.126707991C>G						PLXNA1_ENST00000251772.4_Silent_p.L162L	p.L185L	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	1	555	+			185			Sema.			Silent	SNP	ENST00000393409.2	37	c.555C>G	CCDS33847.2																																																																																				0.652	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		12	24	0	0	0	1	0	12	24				
HIST1H1A	3024	broad.mit.edu	37	6	26017379	26017379	+	Silent	SNP	C	C	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr6:26017379C>T	ENST00000244573.3	-	1	661	c.582G>A	c.(580-582)gcG>gcA	p.A194A		NM_005325.3	NP_005316.1	Q02539	H11_HUMAN	histone cluster 1, H1a	194					nucleosome assembly (GO:0006334)|spermatogenesis (GO:0007283)	nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|ovary(3)|prostate(1)	13						TAGCCTTGGCCGCCTTGGGTT	0.448																																						ENST00000244573.3																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|ovary(3)|prostate(1)	13						c.(580-582)gcG>gcA		histone cluster 1, H1a							138.0	144.0	142.0					6																	26017379		2203	4300	6503	SO:0001819	synonymous_variant	3024				nucleosome assembly|spermatogenesis	nucleosome|nucleus	DNA binding	g.chr6:26017379C>T	AF531299	CCDS4569.1	6p22.1	2012-11-16	2006-10-11	2003-02-21	ENSG00000124610	ENSG00000124610		"""Histones / Replication-dependent"""	4715	protein-coding gene	gene with protein product		142709	"""H1 histone family, member 1"", ""histone 1, H1a"""	H1F1		2759094, 12408966	Standard	NM_005325		Approved	H1.1, H1a	uc003nfo.3	Q02539	OTTHUMG00000016413	ENST00000244573.3:c.582G>A	6.37:g.26017379C>T							p.A194A	NM_005325.3	NP_005316.1	Q02539	H11_HUMAN			1	661	-			194					Q3MJ34	Silent	SNP	ENST00000244573.3	37	c.582G>A	CCDS4569.1																																																																																				0.448	HIST1H1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043884.1	NM_005325		16	190	0	0	0	1	0	16	190				
WDR59	79726	broad.mit.edu	37	16	74946248	74946248	+	Missense_Mutation	SNP	C	C	G			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr16:74946248C>G	ENST00000262144.6	-	14	1367	c.1237G>C	c.(1237-1239)Gac>Cac	p.D413H		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	413	RWD. {ECO:0000255|PROSITE- ProRule:PRU00179}.									breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						CAGCTCCTGTCTGCCGCATCC	0.502																																						ENST00000262144.6																			0				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						c.(1237-1239)Gac>Cac		WD repeat domain 59							123.0	103.0	110.0					16																	74946248		2198	4300	6498	SO:0001583	missense	79726							g.chr16:74946248C>G	AB067510	CCDS32488.1	16q22.3	2013-01-09				ENSG00000103091		"""WD repeat domain containing"""	25706	protein-coding gene	gene with protein product						11572484	Standard	XM_005256146		Approved	FLJ12270	uc002fdh.1	Q6PJI9		ENST00000262144.6:c.1237G>C	16.37:g.74946248C>G	ENSP00000262144:p.Asp413His						p.D413H	NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN			14	1367	-			413			RWD.		B3KRC3|Q71RE7|Q96PW5|Q9BSW6|Q9HA43	Missense_Mutation	SNP	ENST00000262144.6	37	c.1237G>C	CCDS32488.1	.	.	.	.	.	.	.	.	.	.	C	13.39	2.222027	0.39300	.	.	ENSG00000103091	ENST00000262144;ENST00000536050	T	0.67865	-0.29	5.52	5.52	0.82312	RWD domain (2);	0.045467	0.85682	D	0.000000	T	0.49626	0.1568	N	0.08118	0	0.44587	D	0.997553	P;B	0.40107	0.703;0.435	P;B	0.45856	0.495;0.219	T	0.51244	-0.8730	10	0.38643	T	0.18	-23.5295	7.2088	0.25921	0.0:0.7947:0.0:0.2053	.	413;413	Q6PJI9-2;Q6PJI9	.;WDR59_HUMAN	H	413;392	ENSP00000262144:D413H	ENSP00000262144:D413H	D	-	1	0	WDR59	73503749	1.000000	0.71417	0.261000	0.24466	0.533000	0.34776	5.825000	0.69286	2.599000	0.87857	0.563000	0.77884	GAC		0.502	WDR59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410601.3	NM_030581		26	54	0	0	0	1	0	26	54				
TMPO	7112	broad.mit.edu	37	12	98909804	98909804	+	Silent	SNP	C	C	T	rs368465288		TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr12:98909804C>T	ENST00000556029.1	+	1	515	c.159C>T	c.(157-159)ctC>ctT	p.L53L	TMPO_ENST00000261210.5_Silent_p.L53L|TMPO_ENST00000343315.5_Silent_p.L53L|TMPO_ENST00000266732.4_Silent_p.L53L|TMPO-AS1_ENST00000546421.1_RNA|TMPO_ENST00000393053.2_Silent_p.L53L|TMPO-AS1_ENST00000548760.2_RNA	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN	thymopoietin	53	Linker.|Nucleoplasmic. {ECO:0000255}.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)|lamin binding (GO:0005521)			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GGCCGCCGCTCCCCGCCGGCA	0.721																																						ENST00000556029.1																			0				breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(157-159)ctC>ctT		thymopoietin							9.0	12.0	11.0					12																	98909804		1881	3763	5644	SO:0001819	synonymous_variant	7112					integral to membrane|nuclear inner membrane	DNA binding|lamin binding	g.chr12:98909804C>T		CCDS9064.1, CCDS31879.1, CCDS31880.1	12q22	2014-09-17			ENSG00000120802	ENSG00000120802			11875	protein-coding gene	gene with protein product	"""LEM domain containing 4"""	188380				7517549	Standard	NM_003276		Approved	TP, LAP2, LEMD4	uc001tfh.2	P42166	OTTHUMG00000170210	ENST00000556029.1:c.159C>T	12.37:g.98909804C>T						TMPO-AS1_ENST00000548760.2_RNA|TMPO_ENST00000393053.2_Silent_p.L53L|TMPO-AS1_ENST00000546421.1_RNA|TMPO_ENST00000343315.5_Silent_p.L53L|TMPO_ENST00000266732.4_Silent_p.L53L|TMPO_ENST00000261210.5_Silent_p.L53L	p.L53L	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN			1	515	+			53			Linker.|Nucleoplasmic (Potential).		A2T926|Q14861	Silent	SNP	ENST00000556029.1	37	c.159C>T	CCDS31879.1																																																																																				0.721	TMPO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407973.2	NM_003276		4	22	0	0	0	1	0	4	22				
POLE	5426	broad.mit.edu	37	12	133215852	133215852	+	Missense_Mutation	SNP	T	T	C			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr12:133215852T>C	ENST00000320574.5	-	40	5454	c.5411A>G	c.(5410-5412)aAg>aGg	p.K1804R	POLE_ENST00000535270.1_Missense_Mutation_p.K1777R|POLE_ENST00000434528.3_5'UTR	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1804					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	GGTGATCTCCTTCACCCAGCC	0.597								DNA polymerases (catalytic subunits)			OREG0022269	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000320574.5																			0				NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89						c.(5410-5412)aAg>aGg	DNA polymerases (catalytic subunits)	polymerase (DNA directed), epsilon, catalytic subunit							229.0	145.0	174.0					12																	133215852		2203	4300	6503	SO:0001583	missense	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133215852T>C		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.5411A>G	12.37:g.133215852T>C	ENSP00000322570:p.Lys1804Arg		OREG0022269	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1601	POLE_ENST00000535270.1_Missense_Mutation_p.K1777R|POLE_ENST00000434528.3_5'UTR	p.K1804R	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	40	5454	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	1804					Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	c.5411A>G	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	T	7.072	0.568502	0.13560	.	.	ENSG00000177084	ENST00000434528;ENST00000320574;ENST00000455752;ENST00000535270	T;T;T	0.21734	1.99;1.99;1.99	5.62	-0.961	0.10337	DNA polymerase epsilon, catalytic subunit A, C-terminal (1);	0.228970	0.49916	N	0.000122	T	0.07773	0.0195	N	0.05554	-0.025	0.34710	D	0.727602	B;B	0.06786	0.0;0.001	B;B	0.12837	0.002;0.008	T	0.44922	-0.9296	10	0.06365	T	0.9	.	10.1874	0.43006	0.0:0.3303:0.0:0.6697	.	1804;14	Q07864;B3KS74	DPOE1_HUMAN;.	R	14;1804;1815;1777	ENSP00000322570:K1804R;ENSP00000406383:K1815R;ENSP00000445753:K1777R	ENSP00000322570:K1804R	K	-	2	0	POLE	131725925	1.000000	0.71417	0.982000	0.44146	0.958000	0.62258	1.392000	0.34486	-0.379000	0.07906	0.533000	0.62120	AAG		0.597	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		23	24	0	0	0	1	0	23	24				
TRANK1	9881	broad.mit.edu	37	3	36873812	36873812	+	Missense_Mutation	SNP	C	C	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr3:36873812C>A	ENST00000429976.2	-	21	7377	c.7130G>T	c.(7129-7131)aGg>aTg	p.R2377M	TRANK1_ENST00000428977.2_Missense_Mutation_p.R1827M|TRANK1_ENST00000301807.6_Missense_Mutation_p.R1827M	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2377							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TTCTGGGTTCCTGTACACGTA	0.478																																						ENST00000429976.2																			0				NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						c.(7129-7131)aGg>aTg		tetratricopeptide repeat and ankyrin repeat containing 1							87.0	91.0	90.0					3																	36873812		1918	4125	6043	SO:0001583	missense	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36873812C>A	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.7130G>T	3.37:g.36873812C>A	ENSP00000416168:p.Arg2377Met					TRANK1_ENST00000428977.2_Missense_Mutation_p.R1827M|TRANK1_ENST00000301807.6_Missense_Mutation_p.R1827M	p.R2377M			O15050	TRNK1_HUMAN			21	7377	-			2377					Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	37	c.7130G>T	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	C	14.90	2.674172	0.47781	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.34072	1.38;1.78;1.38	5.27	4.39	0.52855	.	0.207799	0.30752	N	0.008959	T	0.40067	0.1102	L	0.29908	0.895	0.23304	N	0.997944	D	0.76494	0.999	P	0.59703	0.862	T	0.17289	-1.0374	10	0.87932	D	0	.	8.4898	0.33093	0.0:0.752:0.0:0.248	.	2377	O15050	TRNK1_HUMAN	M	1827;2377;1827	ENSP00000416826:R1827M;ENSP00000416168:R2377M;ENSP00000301807:R1827M	ENSP00000301807:R1827M	R	-	2	0	TRANK1	36848816	0.942000	0.31987	0.997000	0.53966	0.853000	0.48598	1.846000	0.39289	1.366000	0.46076	0.561000	0.74099	AGG		0.478	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		38	36	1	0	2.26627e-22	1	2.58078e-22	38	36				
IBSP	3381	broad.mit.edu	37	4	88732994	88732994	+	Missense_Mutation	SNP	G	G	C	rs546117590		TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr4:88732994G>C	ENST00000226284.5	+	7	953	c.886G>C	c.(886-888)Gag>Cag	p.E296Q		NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN	integrin-binding sialoprotein	296					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cellular response to growth factor stimulus (GO:0071363)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|membrane-bounded vesicle (GO:0031988)				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		CTATGAAGATGAGTACAGCTA	0.463																																						ENST00000226284.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21						c.(886-888)Gag>Cag		integrin-binding sialoprotein							86.0	83.0	84.0					4																	88732994		2203	4300	6503	SO:0001583	missense	3381				biomineral tissue development|cell adhesion|ossification			g.chr4:88732994G>C		CCDS3624.1	4q21.1	2008-07-28	2008-07-28		ENSG00000029559	ENSG00000029559			5341	protein-coding gene	gene with protein product	"""bone sialoprotein"", ""bone sialoprotein II"""	147563				8406493	Standard	NM_004967		Approved	BSP, SP-II, BSP-II	uc003hqx.4	P21815	OTTHUMG00000130600	ENST00000226284.5:c.886G>C	4.37:g.88732994G>C	ENSP00000226284:p.Glu296Gln						p.E296Q	NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)	7	953	+		Hepatocellular(203;0.114)	296						Missense_Mutation	SNP	ENST00000226284.5	37	c.886G>C	CCDS3624.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.964198	0.74131	.	.	ENSG00000029559	ENST00000226284	T	0.20200	2.09	5.36	5.36	0.76844	.	0.000000	0.64402	D	0.000002	T	0.49474	0.1559	M	0.79475	2.455	0.48830	D	0.999718	D	0.89917	1.0	D	0.91635	0.999	T	0.52779	-0.8530	10	0.87932	D	0	.	16.8805	0.86061	0.0:0.0:1.0:0.0	.	296	P21815	SIAL_HUMAN	Q	296	ENSP00000226284:E296Q	ENSP00000226284:E296Q	E	+	1	0	IBSP	88952018	1.000000	0.71417	1.000000	0.80357	0.790000	0.44656	5.986000	0.70563	2.507000	0.84556	0.591000	0.81541	GAG		0.463	IBSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253050.2			10	58	0	0	0	1	0	10	58				
POLR1A	25885	broad.mit.edu	37	2	86260842	86260842	+	Missense_Mutation	SNP	T	T	C			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr2:86260842T>C	ENST00000263857.6	-	28	4481	c.4103A>G	c.(4102-4104)aAc>aGc	p.N1368S	POLR1A_ENST00000409681.1_Missense_Mutation_p.N1368S			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1368					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						TCTTCGAGTGTTTACGTTCCT	0.478																																						ENST00000263857.6																			0				NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						c.(4102-4104)aAc>aGc		polymerase (RNA) I polypeptide A, 194kDa							90.0	92.0	92.0					2																	86260842		1905	4136	6041	SO:0001583	missense	25885				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding	g.chr2:86260842T>C	AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"""RNA polymerase subunits"""	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.4103A>G	2.37:g.86260842T>C	ENSP00000263857:p.Asn1368Ser					POLR1A_ENST00000409681.1_Missense_Mutation_p.N1368S	p.N1368S			O95602	RPA1_HUMAN			28	4481	-			1368					B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Missense_Mutation	SNP	ENST00000263857.6	37	c.4103A>G	CCDS42706.1	.	.	.	.	.	.	.	.	.	.	T	3.043	-0.197096	0.06259	.	.	ENSG00000068654	ENST00000263857;ENST00000409681	T;T	0.64991	-0.11;-0.13	5.38	4.02	0.46733	RNA polymerase Rpb1, domain 5 (1);	0.498382	0.24249	N	0.040193	T	0.26738	0.0654	N	0.02120	-0.675	0.09310	N	1	B;B	0.14012	0.009;0.009	B;B	0.15052	0.012;0.007	T	0.29518	-1.0009	10	0.06099	T	0.92	-27.793	5.943	0.19203	0.0:0.1825:0.0:0.8175	.	734;1368	B7Z8X7;O95602	.;RPA1_HUMAN	S	1368	ENSP00000263857:N1368S;ENSP00000386300:N1368S	ENSP00000263857:N1368S	N	-	2	0	POLR1A	86114353	1.000000	0.71417	0.023000	0.16930	0.274000	0.26718	1.942000	0.40243	2.037000	0.60232	0.459000	0.35465	AAC		0.478	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	NM_015425		12	37	0	0	0	1	0	12	37				
ATF4	468	broad.mit.edu	37	22	39917917	39917917	+	Silent	SNP	C	C	G			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr22:39917917C>G	ENST00000337304.2	+	2	1248	c.366C>G	c.(364-366)ctC>ctG	p.L122L	ATF4_ENST00000396680.1_Silent_p.L122L|ATF4_ENST00000404241.2_Silent_p.L122L	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN	activating transcription factor 4	122					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular amino acid metabolic process (GO:0006520)|cellular protein metabolic process (GO:0044267)|circadian regulation of gene expression (GO:0032922)|endoplasmic reticulum unfolded protein response (GO:0030968)|gamma-aminobutyric acid signaling pathway (GO:0007214)|gluconeogenesis (GO:0006094)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of oxidative stress-induced neuron death (GO:1903204)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of apoptotic process (GO:0043065)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress (GO:1990440)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to endoplasmic reticulum stress (GO:0034976)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite membrane (GO:0032590)|Lewy body core (GO:1990037)|neuron projection (GO:0043005)|nuclear periphery (GO:0034399)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)				Pseudoephedrine(DB00852)	CTTGTGATCTCTTTGCCCCCC	0.517																																						ENST00000337304.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11						c.(364-366)ctC>ctG		activating transcription factor 4							192.0	203.0	199.0					22																	39917917		2203	4300	6503	SO:0001819	synonymous_variant	468				cellular amino acid metabolic process|gluconeogenesis|positive regulation of transcription from RNA polymerase II promoter|response to endoplasmic reticulum stress|transcription from RNA polymerase II promoter	cytoplasm|plasma membrane	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:39917917C>G	D90209	CCDS13996.1	22q13.1	2013-05-23	2013-05-23		ENSG00000128272	ENSG00000128272		"""basic leucine zipper proteins"""	786	protein-coding gene	gene with protein product	"""tax-responsive enhancer element B67"""	604064	"""activating transcription factor 4 (tax-responsive enhancer element B67)"""	TXREB		1847461, 1534408	Standard	NM_182810		Approved	TAXREB67, CREB-2	uc003axz.3	P18848	OTTHUMG00000151099	ENST00000337304.2:c.366C>G	22.37:g.39917917C>G						ATF4_ENST00000396680.1_Silent_p.L122L|ATF4_ENST00000404241.2_Silent_p.L122L	p.L122L	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN			2	1248	+	Melanoma(58;0.04)		122					Q9UH31	Silent	SNP	ENST00000337304.2	37	c.366C>G	CCDS13996.1																																																																																				0.517	ATF4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321305.1	NM_001675		16	220	0	0	0	1	0	16	220				
NEK1	4750	broad.mit.edu	37	4	170354802	170354802	+	Missense_Mutation	SNP	C	C	G			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr4:170354802C>G	ENST00000439128.2	-	27	3335	c.2695G>C	c.(2695-2697)Gaa>Caa	p.E899Q	NEK1_ENST00000510533.1_Missense_Mutation_p.E855Q|NEK1_ENST00000511633.1_Missense_Mutation_p.E883Q|NEK1_ENST00000512193.1_Missense_Mutation_p.E830Q|NEK1_ENST00000507142.1_Missense_Mutation_p.E927Q	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	899					cellular response to DNA damage stimulus (GO:0006974)|cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		ATTTCTGTTTCCAAATCATCA	0.353																																						ENST00000439128.2																			0				NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45						c.(2695-2697)Gaa>Caa		NIMA-related kinase 1							129.0	115.0	120.0					4																	170354802		1847	4093	5940	SO:0001583	missense	4750				cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr4:170354802C>G	AB067488	CCDS47162.1, CCDS56348.1, CCDS56349.1, CCDS56350.1, CCDS56351.1	4q32.3	2012-11-15	2012-11-15		ENSG00000137601	ENSG00000137601			7744	protein-coding gene	gene with protein product		604588	"""NIMA (never in mitosis gene a)-related kinase 1"""			1382974, 8274451	Standard	NM_012224		Approved	NY-REN-55, KIAA1901	uc003isd.2	Q96PY6	OTTHUMG00000160963	ENST00000439128.2:c.2695G>C	4.37:g.170354802C>G	ENSP00000408020:p.Glu899Gln					NEK1_ENST00000510533.1_Missense_Mutation_p.E855Q|NEK1_ENST00000511633.1_Missense_Mutation_p.E883Q|NEK1_ENST00000512193.1_Missense_Mutation_p.E830Q|NEK1_ENST00000507142.1_Missense_Mutation_p.E927Q	p.E899Q	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)	27	3335	-		Prostate(90;0.00601)|Renal(120;0.0183)	899					G5E9Z3|Q05DG5|Q14CB7|Q5H9T1|Q6PIB8|Q96SS2|Q9H6P7|Q9Y594	Missense_Mutation	SNP	ENST00000439128.2	37	c.2695G>C	CCDS47162.1	.	.	.	.	.	.	.	.	.	.	c	17.07	3.294102	0.60086	.	.	ENSG00000137601	ENST00000439128;ENST00000511633;ENST00000510533;ENST00000507142;ENST00000512193	T;T;T;T;T	0.75154	-0.91;-0.85;-0.9;-0.88;-0.89	5.65	5.65	0.86999	.	0.000000	0.64402	D	0.000006	D	0.86222	0.5881	M	0.69823	2.125	0.54753	D	0.999983	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.998	D	0.85586	0.1243	10	0.49607	T	0.09	.	19.737	0.96210	0.0:1.0:0.0:0.0	.	830;883;927;855;899	Q96PY6-4;G5E9Z3;Q96PY6-3;Q96PY6-2;Q96PY6	.;.;.;.;NEK1_HUMAN	Q	899;883;855;927;830	ENSP00000408020:E899Q;ENSP00000423332:E883Q;ENSP00000427653:E855Q;ENSP00000424757:E927Q;ENSP00000424938:E830Q	ENSP00000408020:E899Q	E	-	1	0	NEK1	170591377	1.000000	0.71417	1.000000	0.80357	0.158000	0.22134	5.323000	0.65858	2.666000	0.90696	0.557000	0.71058	GAA		0.353	NEK1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000363157.3			13	52	0	0	0	1	0	13	52				
NBEAL1	65065	broad.mit.edu	37	2	204073440	204073440	+	Silent	SNP	C	C	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr2:204073440C>T	ENST00000449802.1	+	51	7833	c.7500C>T	c.(7498-7500)atC>atT	p.I2500I		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	2500										NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GTGTCGGCATCAGCACTGAGC	0.383																																						ENST00000449802.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						c.(7498-7500)atC>atT		neurobeachin-like 1							117.0	106.0	110.0					2																	204073440		1891	4132	6023	SO:0001819	synonymous_variant	65065						binding	g.chr2:204073440C>T	AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"""WD repeat domain containing"""	20681	protein-coding gene	gene with protein product		609816	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"""	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.7500C>T	2.37:g.204073440C>T							p.I2500I	NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN			51	7833	+			2500					A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Silent	SNP	ENST00000449802.1	37	c.7500C>T	CCDS46495.1	.	.	.	.	.	.	.	.	.	.	C	9.667	1.145803	0.21288	.	.	ENSG00000144426	ENST00000434469	.	.	.	5.95	5.06	0.68205	.	.	.	.	.	T	0.62183	0.2407	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58487	-0.7628	4	.	.	.	.	11.2991	0.49295	0.0:0.8592:0.0:0.1408	.	.	.	.	L	28	.	.	S	+	2	0	NBEAL1	203781685	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	4.623000	0.61247	2.817000	0.96982	0.563000	0.77884	TCA		0.383	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333982.4			46	53	0	0	0	1	0	46	53				
ZNF264	9422	broad.mit.edu	37	19	57716791	57716791	+	Missense_Mutation	SNP	A	A	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr19:57716791A>T	ENST00000263095.6	+	3	601	c.187A>T	c.(187-189)Atc>Ttc	p.I63F	ZNF264_ENST00000536056.1_Missense_Mutation_p.I63F	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	63	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		AGCTGAGCTGATCTGCCACCT	0.517																																						ENST00000263095.6																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27						c.(187-189)Atc>Ttc		zinc finger protein 264							58.0	46.0	50.0					19																	57716791		2203	4300	6503	SO:0001583	missense	9422				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57716791A>T	AB007872	CCDS33127.1	19q13.4	2013-01-08				ENSG00000083844		"""Zinc fingers, C2H2-type"", ""-"""	13057	protein-coding gene	gene with protein product		604668				9455477	Standard	NM_003417		Approved	KIAA0412	uc002qob.3	O43296		ENST00000263095.6:c.187A>T	19.37:g.57716791A>T	ENSP00000263095:p.Ile63Phe					ZNF264_ENST00000536056.1_Missense_Mutation_p.I63F	p.I63F	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)	3	601	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	63			KRAB.		A8K8Y9|Q9P1V0	Missense_Mutation	SNP	ENST00000263095.6	37	c.187A>T	CCDS33127.1	.	.	.	.	.	.	.	.	.	.	A	10.20	1.285078	0.23392	.	.	ENSG00000083844	ENST00000263095;ENST00000536056	T;T	0.00922	5.54;5.54	2.62	-0.997	0.10215	Krueppel-associated box (3);	.	.	.	.	T	0.02970	0.0088	M	0.64567	1.98	0.28618	N	0.908344	D	0.71674	0.998	D	0.76071	0.987	T	0.36311	-0.9753	9	0.66056	D	0.02	.	4.7015	0.12828	0.4572:0.365:0.0:0.1777	.	63	O43296	ZN264_HUMAN	F	63	ENSP00000263095:I63F;ENSP00000440376:I63F	ENSP00000263095:I63F	I	+	1	0	ZNF264	62408603	0.021000	0.18746	0.241000	0.24154	0.015000	0.08874	0.196000	0.17176	-0.317000	0.08677	0.402000	0.26972	ATC		0.517	ZNF264-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465080.1			7	19	0	0	0	1	0	7	19				
THADA	63892	broad.mit.edu	37	2	43801634	43801634	+	Missense_Mutation	SNP	C	C	G			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr2:43801634C>G	ENST00000405006.4	-	11	1921	c.1570G>C	c.(1570-1572)Gag>Cag	p.E524Q	THADA_ENST00000404790.1_Missense_Mutation_p.E524Q|THADA_ENST00000402360.2_Missense_Mutation_p.E524Q|THADA_ENST00000415080.2_Missense_Mutation_p.E234Q|THADA_ENST00000330266.7_Missense_Mutation_p.E234Q|THADA_ENST00000405975.2_Missense_Mutation_p.E524Q|THADA_ENST00000403856.1_Missense_Mutation_p.E524Q	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	524										breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				ACCCAAGTCTCATGCCACTGG	0.373																																						ENST00000403856.1																			0				breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66						c.(1570-1572)Gag>Cag		thyroid adenoma associated							54.0	54.0	54.0					2																	43801634		1846	4098	5944	SO:0001583	missense	63892						binding	g.chr2:43801634C>G	AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.1570G>C	2.37:g.43801634C>G	ENSP00000385995:p.Glu524Gln					THADA_ENST00000330266.7_Missense_Mutation_p.E234Q|THADA_ENST00000404790.1_Missense_Mutation_p.E524Q|THADA_ENST00000415080.2_Missense_Mutation_p.E234Q|THADA_ENST00000402360.2_Missense_Mutation_p.E524Q|THADA_ENST00000405975.2_Missense_Mutation_p.E524Q|THADA_ENST00000405006.4_Missense_Mutation_p.E524Q	p.E524Q			Q6YHU6	THADA_HUMAN			12	1717	-		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)	524					A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	ENST00000405006.4	37	c.1570G>C	CCDS46268.1	.	.	.	.	.	.	.	.	.	.	C	13.82	2.352659	0.41700	.	.	ENSG00000115970	ENST00000330266;ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006;ENST00000402360;ENST00000404790;ENST00000403856	T;T;T;T;T;T;T	0.66099	1.3;1.3;1.3;1.3;-0.19;-0.19;1.3	5.94	5.06	0.68205	Armadillo-type fold (1);	0.180890	0.48767	D	0.000167	T	0.70718	0.3256	L	0.45581	1.43	0.30959	N	0.723917	D;B;P;P;P	0.76494	0.999;0.433;0.831;0.741;0.642	D;B;B;B;B	0.67231	0.95;0.172;0.401;0.147;0.145	T	0.71087	-0.4694	10	0.52906	T	0.07	-0.6306	12.7562	0.57336	0.0:0.8713:0.0:0.1287	.	524;524;524;234;524	B5MC89;Q8IY32;Q6YHU6-5;C9JJB1;Q6YHU6	.;.;.;.;THADA_HUMAN	Q	234;524;524;234;524;524;524;524	ENSP00000331105:E234Q;ENSP00000386088:E524Q;ENSP00000416048:E234Q;ENSP00000385995:E524Q;ENSP00000385441:E524Q;ENSP00000384266:E524Q;ENSP00000385469:E524Q	ENSP00000331105:E234Q	E	-	1	0	THADA	43655138	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.500000	0.45381	2.816000	0.96949	0.561000	0.74099	GAG		0.373	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	NM_022065		14	25	0	0	0	1	0	14	25				
NTSR1	4923	broad.mit.edu	37	20	61386124	61386124	+	Missense_Mutation	SNP	C	C	T	rs140186245	byFrequency	TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr20:61386124C>T	ENST00000370501.3	+	2	1173	c.802C>T	c.(802-804)Cgc>Tgc	p.R268C		NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	268					adult locomotory behavior (GO:0008344)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	G-protein coupled neurotensin receptor activity (GO:0016492)|G-protein coupled receptor activity (GO:0004930)	p.R268S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			CGTCATGGTACGCCAGGCGGC	0.622													c|||	2	0.000399361	0.0008	0.0	5008	,	,		18580	0.0		0.001	False		,,,				2504	0.0				GBM(37;400 780 6403 19663 35669)	ENST00000370501.3																			1	Substitution - Missense(1)	p.R268S(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27						c.(802-804)Cgc>Tgc		neurotensin receptor 1 (high affinity)			CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	129.0	104.0	113.0		802	2.1	1.0	20	dbSNP_134	113	0,8600		0,0,4300	no	missense	NTSR1	NM_002531.2	180	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	268/419	61386124	2,13004	2203	4300	6503	SO:0001583	missense	4923					endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled	g.chr20:61386124C>T		CCDS13502.1	20q13	2012-08-08			ENSG00000101188	ENSG00000101188		"""GPCR / Class A : Neurotensin receptors"""	8039	protein-coding gene	gene with protein product		162651				8075503	Standard	NM_002531		Approved	NTR	uc002ydf.3	P30989	OTTHUMG00000032932	ENST00000370501.3:c.802C>T	20.37:g.61386124C>T	ENSP00000359532:p.Arg268Cys						p.R268C	NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.63e-06)		2	1173	+	Breast(26;3.65e-08)		268					Q9H4H1|Q9H4T5	Missense_Mutation	SNP	ENST00000370501.3	37	c.802C>T	CCDS13502.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	c	15.05	2.718882	0.48622	4.54E-4	0.0	ENSG00000101188	ENST00000370501	T	0.43688	0.94	4.25	2.07	0.26955	GPCR, rhodopsin-like superfamily (1);	0.999600	0.08092	N	0.999188	T	0.50222	0.1603	L	0.46670	1.46	0.42647	D	0.993434	D	0.67145	0.996	P	0.54815	0.761	T	0.49908	-0.8889	10	0.66056	D	0.02	-15.9644	11.0433	0.47844	0.5879:0.4121:0.0:0.0	.	268	P30989	NTR1_HUMAN	C	268	ENSP00000359532:R268C	ENSP00000359532:R268C	R	+	1	0	NTSR1	60856569	1.000000	0.71417	0.997000	0.53966	0.209000	0.24338	2.200000	0.42724	0.870000	0.35726	0.306000	0.20318	CGC		0.622	NTSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080061.1			59	84	0	0	0	1	0	59	84				
CCDC141	285025	broad.mit.edu	37	2	179718336	179718336	+	Nonsense_Mutation	SNP	C	C	A	rs139365189	byFrequency	TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr2:179718336C>A	ENST00000420890.2	-	20	3193	c.3076G>T	c.(3076-3078)Gaa>Taa	p.E1026*	CCDC141_ENST00000295723.5_Nonsense_Mutation_p.E451*	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	1026										NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CTTGCATCTTCGTACCAAAAA	0.338																																						ENST00000420890.2																			0				NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78						c.(3076-3078)Gaa>Taa		coiled-coil domain containing 141							84.0	84.0	84.0					2																	179718336		2203	4300	6503	SO:0001587	stop_gained	285025						protein binding	g.chr2:179718336C>A	AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26821	protein-coding gene	gene with protein product	"""coiled-coil protein associated with myosin II and DISC1"""					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.3076G>T	2.37:g.179718336C>A	ENSP00000395995:p.Glu1026*					CCDC141_ENST00000295723.5_Nonsense_Mutation_p.E451*	p.E1026*	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)		20	3193	-			451					H7C0P1|J3KNW6|Q8N8H3	Nonsense_Mutation	SNP	ENST00000420890.2	37	c.3076G>T		.	.	.	.	.	.	.	.	.	.	C	42	9.530662	0.99196	.	.	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723	.	.	.	6.07	6.07	0.98685	.	0.098308	0.44097	D	0.000498	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-16.3723	20.6593	0.99626	0.0:1.0:0.0:0.0	.	.	.	.	X	1026;470;451	.	ENSP00000295723:E451X	E	-	1	0	CCDC141	179426581	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.661000	0.74422	2.885000	0.99019	0.655000	0.94253	GAA		0.338	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173648		25	68	1	0	3.73808e-20	1	4.23953e-20	25	68				
MTERF2	80298	broad.mit.edu	37	12	107372302	107372302	+	Missense_Mutation	SNP	C	C	A	rs376885365		TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr12:107372302C>A	ENST00000552029.1	-	2	2259	c.191G>T	c.(190-192)aGa>aTa	p.R64I	C12orf23_ENST00000551237.1_3'UTR|MTERFD3_ENST00000392830.2_Missense_Mutation_p.R64I|MTERFD3_ENST00000240050.4_Missense_Mutation_p.R64I			Q49AM1	MTEF2_HUMAN		64					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)	transcription regulatory region DNA binding (GO:0044212)			breast(1)|kidney(1)|large_intestine(2)|lung(3)	7						TCCTTTTAATCTACGAATTTT	0.363																																						ENST00000552029.1																			0				breast(1)|kidney(1)|large_intestine(2)|lung(3)	7						c.(190-192)aGa>aTa		MTERF domain containing 3							117.0	113.0	115.0					12																	107372302		2203	4300	6503	SO:0001583	missense	80298				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	transcription regulatory region DNA binding	g.chr12:107372302C>A																												ENST00000552029.1:c.191G>T	12.37:g.107372302C>A	ENSP00000447651:p.Arg64Ile					MTERFD3_ENST00000240050.4_Missense_Mutation_p.R64I|C12orf23_ENST00000551237.1_3'UTR|MTERFD3_ENST00000392830.2_Missense_Mutation_p.R64I	p.R64I			Q49AM1	MTER3_HUMAN			2	2259	-			64					Q53HM2|Q9H4L6|Q9H7Y9	Missense_Mutation	SNP	ENST00000552029.1	37	c.191G>T	CCDS9111.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.846635	0.51164	.	.	ENSG00000120832	ENST00000392830;ENST00000240050;ENST00000552029;ENST00000548101;ENST00000550736	T;T;T;T;T	0.34472	2.61;2.61;2.61;2.9;1.36	5.81	5.81	0.92471	.	0.137345	0.64402	D	0.000003	T	0.55609	0.1931	M	0.63428	1.95	0.54753	D	0.999986	D	0.71674	0.998	D	0.68943	0.961	T	0.56257	-0.8009	10	0.72032	D	0.01	-6.5881	13.2985	0.60311	0.0:0.9278:0.0:0.0722	.	64	Q49AM1	MTER3_HUMAN	I	64	ENSP00000376575:R64I;ENSP00000240050:R64I;ENSP00000447651:R64I;ENSP00000448343:R64I;ENSP00000448854:R64I	ENSP00000240050:R64I	R	-	2	0	MTERFD3	105896432	1.000000	0.71417	0.671000	0.29857	0.231000	0.25187	3.834000	0.55798	2.749000	0.94314	0.460000	0.39030	AGA		0.363	MTERFD3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406835.1			14	123	1	0	4.7546e-09	1	5.22258e-09	14	123				
GFM2	84340	broad.mit.edu	37	5	74046424	74046424	+	Missense_Mutation	SNP	C	C	G			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr5:74046424C>G	ENST00000296805.3	-	7	956	c.499G>C	c.(499-501)Gat>Cat	p.D167H	GFM2_ENST00000345239.2_Missense_Mutation_p.D167H|GFM2_ENST00000509430.1_Missense_Mutation_p.D167H|GFM2_ENST00000427854.2_Missense_Mutation_p.D167H	NM_032380.3	NP_115756.2			G elongation factor, mitochondrial 2											breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		GCAGAGGCATCAAATACAGCC	0.378																																						ENST00000296805.3																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14						c.(499-501)Gat>Cat		G elongation factor, mitochondrial 2							81.0	70.0	74.0					5																	74046424		2203	4300	6503	SO:0001583	missense	84340				mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity	g.chr5:74046424C>G	AF111808	CCDS4023.1, CCDS4024.1, CCDS47232.1	5q13	2008-02-05			ENSG00000164347	ENSG00000164347			29682	protein-coding gene	gene with protein product		606544				11735030	Standard	NM_001281302		Approved	EFG2, FLJ21661	uc003kdh.1	Q969S9	OTTHUMG00000102058	ENST00000296805.3:c.499G>C	5.37:g.74046424C>G	ENSP00000296805:p.Asp167His					GFM2_ENST00000345239.2_Missense_Mutation_p.D167H|GFM2_ENST00000509430.1_Missense_Mutation_p.D167H|GFM2_ENST00000427854.2_Missense_Mutation_p.D167H	p.D167H	NM_032380.3	NP_115756.2	Q969S9	RRF2M_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)	7	956	-		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)	167						Missense_Mutation	SNP	ENST00000296805.3	37	c.499G>C	CCDS4023.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.007752	0.93287	.	.	ENSG00000164347	ENST00000296805;ENST00000345239;ENST00000546082;ENST00000509430;ENST00000427854;ENST00000509097	T;T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24;-1.24	5.93	5.93	0.95920	Small GTP-binding protein domain (1);Protein synthesis factor, GTP-binding (1);	0.000000	0.85682	D	0.000000	D	0.92064	0.7485	H	0.94771	3.58	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.998;1.0;1.0;0.999	D	0.93093	0.6501	10	0.66056	D	0.02	-22.5894	20.3368	0.98748	0.0:1.0:0.0:0.0	.	167;167;167;167;167	F5H687;Q969S9-3;Q969S9-5;Q969S9-2;Q969S9	.;.;.;.;RRF2M_HUMAN	H	167;167;167;167;167;125	ENSP00000296805:D167H;ENSP00000296804:D167H;ENSP00000427004:D167H;ENSP00000405808:D167H;ENSP00000421717:D125H	ENSP00000296805:D167H	D	-	1	0	GFM2	74082180	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	7.496000	0.81526	2.805000	0.96524	0.655000	0.94253	GAT		0.378	GFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219860.2	NM_032380		10	22	0	0	0	1	0	10	22				
CACNG7	59284	broad.mit.edu	37	19	54417826	54417826	+	Missense_Mutation	SNP	C	C	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr19:54417826C>T	ENST00000391767.1	+	3	481	c.269C>T	c.(268-270)aCg>aTg	p.T90M	CACNG7_ENST00000222212.2_Missense_Mutation_p.T90M|CACNG7_ENST00000391766.1_Missense_Mutation_p.T90M|CACNG7_ENST00000468076.1_Intron			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	90					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		ACGGAAAACACGGAGAATATT	0.547																																						ENST00000391767.1																			0				NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(268-270)aCg>aTg		calcium channel, voltage-dependent, gamma subunit 7							70.0	62.0	65.0					19																	54417826		2203	4300	6503	SO:0001583	missense	59284				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr19:54417826C>T	AF288387	CCDS12868.1	19q13.4	2008-05-02			ENSG00000105605	ENSG00000105605		"""Calcium channel subunits"""	13626	protein-coding gene	gene with protein product		606899				11170751	Standard	NM_031896		Approved		uc002qcr.2	P62955	OTTHUMG00000064852	ENST00000391767.1:c.269C>T	19.37:g.54417826C>T	ENSP00000375647:p.Thr90Met					CACNG7_ENST00000222212.2_Missense_Mutation_p.T90M|CACNG7_ENST00000391766.1_Missense_Mutation_p.T90M|CACNG7_ENST00000468076.1_Intron	p.T90M			P62955	CCG7_HUMAN		GBM - Glioblastoma multiforme(134;0.0711)	3	481	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		90					Q52LL8|Q8VBX3|Q8WXS6|Q9BXT1	Missense_Mutation	SNP	ENST00000391767.1	37	c.269C>T	CCDS12868.1	.	.	.	.	.	.	.	.	.	.	C	18.37	3.609154	0.66558	.	.	ENSG00000105605	ENST00000391767;ENST00000222212;ENST00000391766	D;D;D	0.88896	-2.44;-2.44;-2.44	2.96	2.96	0.34315	.	0.000000	0.85682	D	0.000000	D	0.93125	0.7811	M	0.75777	2.31	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.93450	0.6801	10	0.72032	D	0.01	-6.9602	12.156	0.54077	0.0:1.0:0.0:0.0	.	90	P62955	CCG7_HUMAN	M	90	ENSP00000375647:T90M;ENSP00000222212:T90M;ENSP00000375646:T90M	ENSP00000222212:T90M	T	+	2	0	CACNG7	59109638	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.509000	0.73725	1.979000	0.57680	0.561000	0.74099	ACG		0.547	CACNG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139240.2			11	38	0	0	0	1	0	11	38				
FBXO11	80204	broad.mit.edu	37	2	48059544	48059544	+	Missense_Mutation	SNP	G	G	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr2:48059544G>A	ENST00000403359.3	-	11	1414	c.1342C>T	c.(1342-1344)Cgg>Tgg	p.R448W	FBXO11_ENST00000316377.4_Missense_Mutation_p.R364W|FBXO11_ENST00000434523.2_De_novo_Start_OutOfFrame|FBXO11_ENST00000402508.1_Missense_Mutation_p.R364W	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	448					cellular protein modification process (GO:0006464)|peptidyl-arginine N-methylation (GO:0035246)|protein ubiquitination (GO:0016567)|sensory perception of sound (GO:0007605)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	protein-arginine N-methyltransferase activity (GO:0016274)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ATATGATTCCGTCTAATAATT	0.343			"""Mis, F, D"""		DLBCL																																	ENST00000434523.2				Rec	yes		2	2p16.3	80204	"""Mis, F, D"""	F-box protein 11			L			DLBCL		2	Whole gene deletion(2)	p.0?(2)	haematopoietic_and_lymphoid_tissue(2)	endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26								F-box protein 11							86.0	88.0	87.0					2																	48059544		2202	4299	6501	SO:0001583	missense	80204				ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:48059544G>A	AF174599	CCDS1837.1, CCDS54357.1	2p16.3	2014-01-29	2008-06-23	2008-06-23	ENSG00000138081	ENSG00000138081		"""Ubiquitin protein ligase E3 component n-recognins"", ""F-boxes /  ""other"""""	13590	protein-coding gene	gene with protein product	"""ubiquitin protein ligase E3 component n-recognin 6"""	607871	"""F-box only protein 11"""			10531035, 16487488, 18162545	Standard	NM_025133		Approved	FBX11, UBR6	uc002rwe.3	Q86XK2	OTTHUMG00000129130	ENST00000403359.3:c.1342C>T	2.37:g.48059544G>A	ENSP00000384823:p.Arg448Trp					FBXO11_ENST00000403359.3_Missense_Mutation_p.R448W|FBXO11_ENST00000402508.1_Missense_Mutation_p.R364W|FBXO11_ENST00000316377.4_Missense_Mutation_p.R364W				Q86XK2	FBX11_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		0	46	-		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)						A1L491|Q52ZP1|Q53EP7|Q53RT5|Q8IXG3|Q96E90|Q9H6V8|Q9H9L1|Q9NR14|Q9UFK1|Q9UHI1|Q9UKC2	Translation_Start_Site	SNP	ENST00000403359.3	37		CCDS54357.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.59|18.59	3.657785|3.657785	0.67586|0.67586	.|.	.|.	ENSG00000138081|ENSG00000138081	ENST00000402508;ENST00000403359;ENST00000316377|ENST00000493962	T;T;T|.	0.80824|.	-1.42;0.89;-1.42|.	5.95|5.95	4.1|4.1	0.47936|0.47936	Pectin lyase fold/virulence factor (1);Carbohydrate-binding/sugar hydrolysis domain (1);F-box domain, Skp2-like (1);Pectin lyase fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76307|0.76307	0.3969|0.3969	M|M	0.83774|0.83774	2.66|2.66	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.72625|.	0.978|.	T|T	0.77563|0.77563	-0.2541|-0.2541	10|5	0.87932|.	D|.	0|.	-5.3292|-5.3292	14.0049|14.0049	0.64456|0.64456	0.0:0.0:0.6019:0.3981|0.0:0.0:0.6019:0.3981	.|.	448|.	Q86XK2|.	FBX11_HUMAN|.	W|M	364;448;364|239	ENSP00000385398:R364W;ENSP00000384823:R448W;ENSP00000323822:R364W|.	ENSP00000323822:R364W|.	R|T	-|-	1|2	2|0	FBXO11|FBXO11	47913048|47913048	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	3.775000|3.775000	0.55349|0.55349	0.802000|0.802000	0.34089|0.34089	-0.311000|-0.311000	0.09066|0.09066	CGG|ACG		0.343	FBXO11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251181.3	NM_012167, NM_018693, NM_025133		17	56	0	0	0	1	0	17	56				
GRIK5	2901	broad.mit.edu	37	19	42566782	42566782	+	Silent	SNP	G	G	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr19:42566782G>A	ENST00000262895.3	-	4	365	c.366C>T	c.(364-366)ccC>ccT	p.P122P	GRIK5_ENST00000301218.4_Silent_p.P122P|GRIK5_ENST00000593562.1_Silent_p.P122P	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	122					cellular response to glucose stimulus (GO:0071333)|establishment of localization in cell (GO:0051649)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|positive regulation of neuron apoptotic process (GO:0043525)|protein retention in ER lumen (GO:0006621)|receptor clustering (GO:0043113)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)				GTGTCTCCTCGGGACCCACCT	0.622																																						ENST00000262895.3																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35						c.(364-366)ccC>ccT		glutamate receptor, ionotropic, kainate 5	L-Glutamic Acid(DB00142)						102.0	101.0	101.0					19																	42566782		2203	4300	6503	SO:0001819	synonymous_variant	2901					cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr19:42566782G>A		CCDS12595.1	19q13.2	2012-08-29			ENSG00000105737	ENSG00000105737		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4583	protein-coding gene	gene with protein product		600283		GRIK2		7527545	Standard	NM_002088		Approved	GluK5, KA2	uc002osj.2	Q16478	OTTHUMG00000044573	ENST00000262895.3:c.366C>T	19.37:g.42566782G>A						GRIK5_ENST00000301218.4_Silent_p.P122P|GRIK5_ENST00000593562.1_Silent_p.P122P	p.P122P	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN			4	365	-		Prostate(69;0.059)	122					Q8WWG8	Silent	SNP	ENST00000262895.3	37	c.366C>T	CCDS12595.1																																																																																				0.622	GRIK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463453.1			43	103	0	0	0	1	0	43	103				
NBEAL1	65065	broad.mit.edu	37	2	204000745	204000745	+	Missense_Mutation	SNP	G	G	C			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr2:204000745G>C	ENST00000449802.1	+	27	4405	c.4072G>C	c.(4072-4074)Gag>Cag	p.E1358Q		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1358										NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TTTCAAATCAGAGAATCAAGA	0.413																																						ENST00000449802.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						c.(4072-4074)Gag>Cag		neurobeachin-like 1							90.0	84.0	86.0					2																	204000745		1863	4100	5963	SO:0001583	missense	65065						binding	g.chr2:204000745G>C	AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"""WD repeat domain containing"""	20681	protein-coding gene	gene with protein product		609816	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"""	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.4072G>C	2.37:g.204000745G>C	ENSP00000399903:p.Glu1358Gln						p.E1358Q	NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN			27	4405	+			1358					A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	ENST00000449802.1	37	c.4072G>C	CCDS46495.1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.166104	0.38217	.	.	ENSG00000144426	ENST00000449802;ENST00000340268	T	0.55588	0.51	5.47	5.47	0.80525	.	0.813516	0.11664	N	0.541543	T	0.50990	0.1648	L	0.40543	1.245	0.39098	D	0.961223	B;B	0.32245	0.361;0.361	B;B	0.35470	0.134;0.203	T	0.47100	-0.9143	10	0.29301	T	0.29	.	18.925	0.92541	0.0:0.0:1.0:0.0	.	1358;1347	Q6ZS30;C9JGK5	NBEL1_HUMAN;.	Q	1358	ENSP00000399903:E1358Q	ENSP00000344985:E1358Q	E	+	1	0	NBEAL1	203708990	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	2.611000	0.46334	2.591000	0.87537	0.655000	0.94253	GAG		0.413	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333982.4			5	60	0	0	0	1	0	5	60				
NR2F2	7026	broad.mit.edu	37	15	96877676	96877676	+	Missense_Mutation	SNP	G	G	C			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr15:96877676G>C	ENST00000394166.3	+	2	2203	c.814G>C	c.(814-816)Gcc>Ccc	p.A272P	NR2F2_ENST00000453270.2_Missense_Mutation_p.A119P|NR2F2_ENST00000394171.2_Missense_Mutation_p.A119P|MIR1469_ENST00000410719.1_RNA|NR2F2_ENST00000421109.2_Missense_Mutation_p.A139P	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	272	Interaction with ZFPM2. {ECO:0000250}.|Ligand-binding. {ECO:0000250}.				anterior/posterior pattern specification (GO:0009952)|blood vessel morphogenesis (GO:0048514)|fertilization (GO:0009566)|forebrain development (GO:0030900)|intracellular receptor signaling pathway (GO:0030522)|limb development (GO:0060173)|lipid metabolic process (GO:0006629)|maternal placenta development (GO:0001893)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|radial pattern formation (GO:0009956)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to estradiol (GO:0032355)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			GCTCCTGGCCGCCGCCGGCCT	0.652																																						ENST00000394166.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17						c.(814-816)Gcc>Ccc		nuclear receptor subfamily 2, group F, member 2							38.0	37.0	37.0					15																	96877676		2195	4297	6492	SO:0001583	missense	7026				lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding	g.chr15:96877676G>C	M64497	CCDS10375.1, CCDS45358.1, CCDS45359.1	15q26	2013-01-16			ENSG00000185551	ENSG00000185551		"""Nuclear hormone receptors"""	7976	protein-coding gene	gene with protein product		107773		ARP1, TFCOUP2		8530078, 11544252	Standard	NM_021005		Approved	COUP-TFII, COUPTFB, SVP40, NF-E3	uc010uri.2	P24468	OTTHUMG00000149848	ENST00000394166.3:c.814G>C	15.37:g.96877676G>C	ENSP00000377721:p.Ala272Pro					NR2F2_ENST00000421109.2_Missense_Mutation_p.A139P|NR2F2_ENST00000453270.2_Missense_Mutation_p.A119P|NR2F2_ENST00000394171.2_Missense_Mutation_p.A119P	p.A272P	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0856)		2	2203	+	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		272			Interaction with ZFPM2 (By similarity).|Ligand-binding (By similarity).		B4DQJ2|B6ZGU1|Q03754|Q3KQR7	Missense_Mutation	SNP	ENST00000394166.3	37	c.814G>C	CCDS10375.1	.	.	.	.	.	.	.	.	.	.	G	34	5.313478	0.95655	.	.	ENSG00000185551	ENST00000421109;ENST00000394166;ENST00000394171;ENST00000453270	D;D;D;D	0.97209	-4.29;-4.29;-4.29;-4.29	5.09	5.09	0.68999	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.64402	D	0.000001	D	0.98210	0.9408	M	0.73372	2.23	0.80722	D	1	D;D	0.67145	0.996;0.993	D;D	0.75484	0.986;0.962	D	0.99513	1.0956	10	0.87932	D	0	.	18.4813	0.90812	0.0:0.0:1.0:0.0	.	272;139	P24468;Q3KQR7	COT2_HUMAN;.	P	139;272;119;119	ENSP00000401674:A139P;ENSP00000377721:A272P;ENSP00000377726:A119P;ENSP00000389853:A119P	ENSP00000377721:A272P	A	+	1	0	NR2F2	94678680	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.376000	0.81061	0.655000	0.94253	GCC		0.652	NR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313534.1			8	53	0	0	0	1	0	8	53				
ITGB6	3694	broad.mit.edu	37	2	160994681	160994681	+	Silent	SNP	T	T	C			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr2:160994681T>C	ENST00000283249.2	-	9	1374	c.1137A>G	c.(1135-1137)gtA>gtG	p.V379V	ITGB6_ENST00000428609.2_Silent_p.V337V|ITGB6_ENST00000409967.2_Silent_p.V379V|ITGB6_ENST00000409872.1_Silent_p.V379V	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	379					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|multicellular organismal development (GO:0007275)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						TGTCTCCTAATACTTCCAGTT	0.428																																						ENST00000283249.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						c.(1135-1137)gtA>gtG		integrin, beta 6							219.0	187.0	198.0					2																	160994681		2203	4300	6503	SO:0001819	synonymous_variant	3694				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity	g.chr2:160994681T>C		CCDS2212.1, CCDS63040.1, CCDS74596.1, CCDS74597.1	2q24.2	2010-03-23			ENSG00000115221	ENSG00000115221		"""Integrins"""	6161	protein-coding gene	gene with protein product		147558				1729173, 8120056	Standard	NM_001282353		Approved		uc002ubh.2	P18564	OTTHUMG00000132026	ENST00000283249.2:c.1137A>G	2.37:g.160994681T>C						ITGB6_ENST00000428609.2_Silent_p.V337V|ITGB6_ENST00000409872.1_Silent_p.V379V|ITGB6_ENST00000409967.2_Silent_p.V379V	p.V379V			P18564	ITB6_HUMAN			9	1374	-			379					B2R9W5|C9JA97|Q0VA95|Q16500|Q53RG5|Q53RR6	Silent	SNP	ENST00000283249.2	37	c.1137A>G	CCDS2212.1																																																																																				0.428	ITGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255036.1	NM_000888		40	95	0	0	0	1	0	40	95				
TRAPPC9	83696	broad.mit.edu	37	8	141297720	141297720	+	Silent	SNP	C	C	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr8:141297720C>T	ENST00000438773.2	-	13	2101	c.1968G>A	c.(1966-1968)acG>acA	p.T656T	TRAPPC9_ENST00000389327.3_Silent_p.T647T|TRAPPC9_ENST00000389328.4_Silent_p.T754T	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	656					cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						TCACAGTAATCGTTCCAGTCG	0.602																																						ENST00000389328.4																			0				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						c.(2260-2262)acG>acA		trafficking protein particle complex 9							83.0	78.0	80.0					8																	141297720		2203	4300	6503	SO:0001819	synonymous_variant	83696				cell differentiation	endoplasmic reticulum|Golgi apparatus		g.chr8:141297720C>T	BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632		"""Trafficking protein particle complex"""	30832	protein-coding gene	gene with protein product	"""TRAPP 120 kDa subunit"", ""tularik gene 1"""	611966				11572484	Standard	NM_031466		Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187	ENST00000438773.2:c.1968G>A	8.37:g.141297720C>T						TRAPPC9_ENST00000438773.2_Silent_p.T656T|TRAPPC9_ENST00000389327.3_Silent_p.T647T	p.T754T	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN			13	2276	-			656					Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Silent	SNP	ENST00000438773.2	37	c.2262G>A	CCDS55278.1	.	.	.	.	.	.	.	.	.	.	c	4.964	0.179085	0.09443	.	.	ENSG00000167632	ENST00000520857	.	.	.	5.52	-10.7	0.00240	.	.	.	.	.	T	0.49457	0.1558	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63373	-0.6652	4	.	.	.	.	11.2234	0.48869	0.0:0.5514:0.2793:0.1693	.	.	.	.	N	500	.	.	D	-	1	0	TRAPPC9	141366902	0.812000	0.29077	0.001000	0.08648	0.422000	0.31414	-0.182000	0.09726	-2.466000	0.00533	-1.088000	0.02184	GAT		0.602	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377749.1	NM_031466		4	94	0	0	0	1	0	4	94				
SNHG14	104472715	broad.mit.edu	37	15	25307544	25307544	+	RNA	SNP	C	C	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr15:25307544C>T	ENST00000549804.2	+	0	397				SNORD116-5_ENST00000384462.1_RNA|SNHG14_ENST00000384733.1_RNA|SNORD116-6_ENST00000384711.1_RNA|SNHG14_ENST00000551077.1_RNA					small nucleolar RNA host gene 14 (non-protein coding)																		AGTGAGAACTCATACCGTCGT	0.502																																						ENST00000549804.2																			0																				190.0	172.0	178.0					15																	25307544		876	1989	2865			104472715							g.chr15:25307544C>T			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25307544C>T						SNORD116-5_ENST00000384462.1_RNA								0	397	+									RNA	SNP	ENST00000549804.2	37																																																																																						0.502	SNHG14-012	KNOWN	non_canonical_other|basic	antisense	processed_transcript	OTTHUMT00000408278.2			14	330	0	0	0	1	0	14	330				
TTN	7273	broad.mit.edu	37	2	179498022	179498022	+	Silent	SNP	G	G	A	rs369959066	byFrequency	TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr2:179498022G>A	ENST00000591111.1	-	183	38279	c.38055C>T	c.(38053-38055)taC>taT	p.Y12685Y	TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Silent_p.Y5386Y|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Silent_p.Y5453Y|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Silent_p.Y5261Y|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Silent_p.Y14326Y|TTN_ENST00000342992.6_Silent_p.Y11758Y			Q8WZ42	TITIN_HUMAN	titin	12685					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTCTACTCCGTACAGAGGCT	0.408													G|||	6	0.00119808	0.0	0.0	5008	,	,		21626	0.0		0.001	False		,,,				2504	0.0051					ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(42976-42978)taC>taT		titin		G	,,,	0,3658		0,0,1829	104.0	104.0	104.0		15783,35274,16158,16359	-0.4	0.9	2		104	1,8181		0,1,4090	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	,,,	0,1,5919	AA,AG,GG		0.0122,0.0,0.0084	,,,	5261/26927,11758/33424,5386/27052,5453/27119	179498022	1,11839	1829	4091	5920	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179498022G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.38055C>T	2.37:g.179498022G>A						TTN_ENST00000342175.6_Silent_p.Y5453Y|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Silent_p.Y11758Y|TTN_ENST00000591111.1_Silent_p.Y12685Y|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.Y5386Y|TTN_ENST00000460472.2_Silent_p.Y5261Y	p.Y14326Y	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		233	43202	-			12685					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.42978C>T																																																																																					0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		47	115	0	0	0	1	0	47	115				
LTA	4049	broad.mit.edu	37	6	31540721	31540721	+	Missense_Mutation	SNP	G	G	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr6:31540721G>A	ENST00000454783.1	+	3	374	c.116G>A	c.(115-117)gGc>gAc	p.G39D	TNF_ENST00000449264.2_5'Flank|LTA_ENST00000418386.2_Missense_Mutation_p.G39D	NM_001159740.2	NP_001153212.1	P01374	TNFB_HUMAN	lymphotoxin alpha	39					apoptotic process (GO:0006915)|cell-cell signaling (GO:0007267)|defense response to Gram-positive bacterium (GO:0050830)|humoral immune response (GO:0006959)|lymph node development (GO:0048535)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of growth of symbiont in host (GO:0044130)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chronic inflammatory response to antigenic stimulus (GO:0002876)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of interferon-gamma production (GO:0032729)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|membrane (GO:0016020)	receptor binding (GO:0005102)			endometrium(2)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9					Etanercept(DB00005)	CCTGGTGTTGGCCTCACACCT	0.607																																						ENST00000454783.1																			0				endometrium(2)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9						c.(115-117)gGc>gAc		lymphotoxin alpha	Etanercept(DB00005)						96.0	76.0	83.0					6																	31540721		1511	2709	4220	SO:0001583	missense	4049				cell-cell signaling|induction of apoptosis|signal transduction	extracellular space|membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr6:31540721G>A	X01393	CCDS4701.1	6p21.3	2013-05-22	2013-05-22		ENSG00000226979	ENSG00000226979		"""Tumor necrosis factor (ligand) superfamily"""	6709	protein-coding gene	gene with protein product	"""TNF superfamily member 1"""	153440	"""lymphotoxin alpha (TNF superfamily, member 1)"""	TNFB		2995927, 3001529	Standard	NM_001159740		Approved	TNFSF1, LT	uc011dnu.2	P01374	OTTHUMG00000031135	ENST00000454783.1:c.116G>A	6.37:g.31540721G>A	ENSP00000403495:p.Gly39Asp					LTA_ENST00000418386.2_Missense_Mutation_p.G39D	p.G39D	NM_001159740.2	NP_001153212.1	P01374	TNFB_HUMAN			3	374	+			39					Q8N4C3|Q9UKS8	Missense_Mutation	SNP	ENST00000454783.1	37	c.116G>A	CCDS4701.1	.	.	.	.	.	.	.	.	.	.	G	0.984	-0.696059	0.03279	.	.	ENSG00000226979	ENST00000454783;ENST00000418386;ENST00000436827	T;T	0.15834	2.39;2.39	5.01	2.01	0.26516	.	0.227245	0.22663	N	0.057174	T	0.03434	0.0099	L	0.44542	1.39	0.09310	N	1	B	0.12013	0.005	B	0.09377	0.004	T	0.43621	-0.9380	10	0.11794	T	0.64	-6.8077	6.048	0.19770	0.3307:0.0:0.6693:0.0	.	39	P01374	TNFB_HUMAN	D	39	ENSP00000403495:G39D;ENSP00000413450:G39D	ENSP00000413450:G39D	G	+	2	0	LTA	31648700	0.001000	0.12720	0.010000	0.14722	0.997000	0.91878	0.265000	0.18515	0.694000	0.31654	0.655000	0.94253	GGC		0.607	LTA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259097.1			4	38	0	0	0	1	0	4	38				
MMEL1	79258	broad.mit.edu	37	1	2541172	2541172	+	Missense_Mutation	SNP	C	C	G	rs548411329		TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr1:2541172C>G	ENST00000378412.3	-	5	552	c.391G>C	c.(391-393)Gag>Cag	p.E131Q	MMEL1_ENST00000288709.6_Missense_Mutation_p.E122Q|MMEL1_ENST00000502556.1_Missense_Mutation_p.E131Q			Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	131						endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		GAGTTGGTCTCAGGGATCACG	0.617																																						ENST00000288709.6																			0				cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27						c.(364-366)Gag>Cag		membrane metallo-endopeptidase-like 1							102.0	81.0	88.0					1																	2541172		2203	4300	6503	SO:0001583	missense	79258				proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity	g.chr1:2541172C>G	AF336981	CCDS30569.1, CCDS30569.2	1p36	2008-02-05			ENSG00000142606	ENSG00000142606			14668	protein-coding gene	gene with protein product			"""membrane metallo-endopeptidase-like 2"""	MMEL2			Standard	NM_033467		Approved	SEP, NL1, NL2, NEPII	uc001ajy.2	Q495T6	OTTHUMG00000000846	ENST00000378412.3:c.391G>C	1.37:g.2541172C>G	ENSP00000367668:p.Glu131Gln					MMEL1_ENST00000378412.3_Missense_Mutation_p.E131Q|MMEL1_ENST00000502556.1_Missense_Mutation_p.E131Q	p.E122Q	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)	5	604	-	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	131					B9DI79|Q495T7|Q495T8|Q5SZS6|Q96PH9	Missense_Mutation	SNP	ENST00000378412.3	37	c.364G>C	CCDS30569.2	.	.	.	.	.	.	.	.	.	.	c	32	5.183390	0.94885	.	.	ENSG00000142606	ENST00000378411;ENST00000288709;ENST00000378412;ENST00000502556	T;T;T	0.75589	-0.95;-0.95;-0.95	5.29	5.29	0.74685	Peptidase M13 (1);	0.000000	0.85682	D	0.000000	D	0.87018	0.6073	M	0.80847	2.515	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.88736	0.3240	10	0.87932	D	0	-44.3727	17.8954	0.88886	0.0:1.0:0.0:0.0	.	131	Q495T6	MMEL1_HUMAN	Q	131;122;131;131	ENSP00000288709:E122Q;ENSP00000367668:E131Q;ENSP00000422492:E131Q	ENSP00000288709:E122Q	E	-	1	0	MMEL1	2531032	1.000000	0.71417	0.983000	0.44433	0.957000	0.61999	7.639000	0.83342	2.452000	0.82932	0.555000	0.69702	GAG		0.617	MMEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002395.2	NM_033467		26	56	0	0	0	1	0	26	56				
KHDRBS2	202559	broad.mit.edu	37	6	62611200	62611200	+	Missense_Mutation	SNP	C	C	G			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr6:62611200C>G	ENST00000281156.4	-	5	838	c.560G>C	c.(559-561)gGc>gCc	p.G187A		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	187					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) binding (GO:0008143)|poly(U) RNA binding (GO:0008266)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		AATACCTCTGCCACGACCAGA	0.408																																						ENST00000281156.4																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(559-561)gGc>gCc		KH domain containing, RNA binding, signal transduction associated 2							114.0	113.0	114.0					6																	62611200		2203	4300	6503	SO:0001583	missense	202559				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding	g.chr6:62611200C>G	BC034043	CCDS4963.1	6q11.1	2013-09-20			ENSG00000112232	ENSG00000112232			18114	protein-coding gene	gene with protein product	"""Sam68-like mammalian protein 1"""	610487					Standard	NM_152688		Approved	SLM1, SLM-1, MGC26664	uc003peg.2	Q5VWX1	OTTHUMG00000014936	ENST00000281156.4:c.560G>C	6.37:g.62611200C>G	ENSP00000281156:p.Gly187Ala						p.G187A	NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.149)	5	838	-			187					A8K7M8|Q8N4I4|Q8TCZ4	Missense_Mutation	SNP	ENST00000281156.4	37	c.560G>C	CCDS4963.1	.	.	.	.	.	.	.	.	.	.	C	14.57	2.575551	0.45902	.	.	ENSG00000112232	ENST00000281156;ENST00000539571	T	0.15256	2.44	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.08358	0.0208	L	0.54323	1.7	0.80722	D	1	B	0.22909	0.077	B	0.18263	0.021	T	0.16424	-1.0403	10	0.02654	T	1	-2.5484	20.4388	0.99107	0.0:1.0:0.0:0.0	.	187	Q5VWX1	KHDR2_HUMAN	A	187	ENSP00000281156:G187A	ENSP00000281156:G187A	G	-	2	0	KHDRBS2	62669159	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.403000	0.59729	2.836000	0.97738	0.655000	0.94253	GGC		0.408	KHDRBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041066.2	NM_152688		14	82	0	0	0	1	0	14	82				
CCDC126	90693	broad.mit.edu	37	7	23651052	23651052	+	Missense_Mutation	SNP	C	C	G			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr7:23651052C>G	ENST00000307471.3	+	3	575	c.118C>G	c.(118-120)Caa>Gaa	p.Q40E	CCDC126_ENST00000486109.1_3'UTR|CCDC126_ENST00000409765.1_Missense_Mutation_p.Q40E|CCDC126_ENST00000410069.1_Missense_Mutation_p.Q40E	NM_138771.3	NP_620126.2	Q96EE4	CC126_HUMAN	coiled-coil domain containing 126	40					protein N-linked glycosylation (GO:0006487)	extracellular region (GO:0005576)|membrane (GO:0016020)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)			endometrium(3)|kidney(1)|large_intestine(1)|ovary(1)|skin(1)	7						ACCAAGACATCAAAGCAGTGT	0.368																																						ENST00000307471.3																			0				endometrium(3)|kidney(1)|large_intestine(1)|ovary(1)|skin(1)	7						c.(118-120)Caa>Gaa		coiled-coil domain containing 126							130.0	115.0	120.0					7																	23651052		2203	4300	6503	SO:0001583	missense	90693					extracellular region		g.chr7:23651052C>G	BC012427	CCDS5384.1	7p15.3	2006-08-15			ENSG00000169193	ENSG00000169193			22398	protein-coding gene	gene with protein product						12477932	Standard	NM_138771		Approved	FLJ23031	uc003swl.3	Q96EE4	OTTHUMG00000128461	ENST00000307471.3:c.118C>G	7.37:g.23651052C>G	ENSP00000304355:p.Gln40Glu					CCDC126_ENST00000409765.1_Missense_Mutation_p.Q40E|CCDC126_ENST00000410069.1_Missense_Mutation_p.Q40E|CCDC126_ENST00000486109.1_3'UTR	p.Q40E	NM_138771.3	NP_620126.2	Q96EE4	CC126_HUMAN			3	575	+			40					A8K1J6|Q6UWP1|Q75MQ6	Missense_Mutation	SNP	ENST00000307471.3	37	c.118C>G	CCDS5384.1	.	.	.	.	.	.	.	.	.	.	C	6.855	0.527115	0.13066	.	.	ENSG00000169193	ENST00000307471;ENST00000409765;ENST00000448353;ENST00000410069	.	.	.	5.71	5.71	0.89125	.	0.053566	0.85682	D	0.000000	T	0.51669	0.1688	L	0.36672	1.1	0.54753	D	0.999989	B	0.11235	0.004	B	0.13407	0.009	T	0.51779	-0.8662	9	0.02654	T	1	-9.2596	19.8593	0.96777	0.0:1.0:0.0:0.0	.	40	Q96EE4	CC126_HUMAN	E	40	.	ENSP00000304355:Q40E	Q	+	1	0	CCDC126	23617577	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.383000	0.59600	2.700000	0.92200	0.557000	0.71058	CAA		0.368	CCDC126-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250259.1	NM_138771		6	129	0	0	0	1	0	6	129				
MOGS	7841	broad.mit.edu	37	2	74692085	74692085	+	Missense_Mutation	SNP	C	C	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr2:74692085C>A	ENST00000233616.4	-	1	452	c.290G>T	c.(289-291)gGa>gTa	p.G97V	MOGS_ENST00000462443.1_Intron|MOGS_ENST00000409065.1_Missense_Mutation_p.G97V|MOGS_ENST00000535045.1_Missense_Mutation_p.G97V|MOGS_ENST00000452063.2_5'UTR	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	97	Required for endoplasmic reticulum targeting. {ECO:0000250}.				cellular protein metabolic process (GO:0044267)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucosidase activity (GO:0015926)|mannosyl-oligosaccharide glucosidase activity (GO:0004573)			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						GCGGTAGGTTCCCCAGAAGAG	0.721																																						ENST00000233616.4																			0				cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						c.(289-291)gGa>gTa		mannosyl-oligosaccharide glucosidase							18.0	25.0	22.0					2																	74692085		2123	4231	6354	SO:0001583	missense	7841				oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity	g.chr2:74692085C>A	X87237	CCDS42700.1, CCDS54370.1	2p13.1	2012-01-31			ENSG00000115275	ENSG00000115275	3.2.1.106		24862	protein-coding gene	gene with protein product	"""glucosidase I"", ""processing A-glucosidase I"""	601336				7635146, 8786151	Standard	NM_006302		Approved	GCS1, CWH41, DER7	uc010ffj.3	Q13724	OTTHUMG00000152886	ENST00000233616.4:c.290G>T	2.37:g.74692085C>A	ENSP00000233616:p.Gly97Val					MOGS_ENST00000452063.2_5'UTR|MOGS_ENST00000462443.1_Intron|MOGS_ENST00000409065.1_Missense_Mutation_p.G97V|MOGS_ENST00000535045.1_Missense_Mutation_p.G97V	p.G97V	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN			1	452	-			97					A8K938|F5H6D0|Q17RN9|Q8TCT5	Missense_Mutation	SNP	ENST00000233616.4	37	c.290G>T	CCDS42700.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.361931	0.82353	.	.	ENSG00000115275	ENST00000233616;ENST00000409065;ENST00000535045	T;T;T	0.71698	-0.59;-0.59;-0.59	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	D	0.86847	0.6031	M	0.92507	3.315	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89558	0.3804	10	0.87932	D	0	-12.8665	13.2861	0.60243	0.0:1.0:0.0:0.0	.	97;97	B4E3B8;Q13724	.;MOGS_HUMAN	V	97	ENSP00000233616:G97V;ENSP00000386493:G97V;ENSP00000439971:G97V	ENSP00000233616:G97V	G	-	2	0	MOGS	74545593	1.000000	0.71417	1.000000	0.80357	0.618000	0.37518	6.496000	0.73670	2.492000	0.84095	0.655000	0.94253	GGA		0.721	MOGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328382.1	NM_006302		6	12	1	0	1	1	1	6	12				
TET1	80312	broad.mit.edu	37	10	70451319	70451319	+	Silent	SNP	C	C	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr10:70451319C>T	ENST00000373644.4	+	12	6368	c.6159C>T	c.(6157-6159)aaC>aaT	p.N2053N		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	2053					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						AGCACAAAAACCTAAATAAGC	0.463																																						ENST00000373644.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						c.(6157-6159)aaC>aaT		tet methylcytosine dioxygenase 1							60.0	61.0	61.0					10																	70451319		2203	4300	6503	SO:0001819	synonymous_variant	80312				DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	g.chr10:70451319C>T	AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.6159C>T	10.37:g.70451319C>T							p.N2053N	NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN			12	6368	+			2053					Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Silent	SNP	ENST00000373644.4	37	c.6159C>T	CCDS7281.1																																																																																				0.463	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625		6	40	0	0	0	1	0	6	40				
NDUFA9	4704	broad.mit.edu	37	12	4771726	4771726	+	Missense_Mutation	SNP	G	G	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr12:4771726G>A	ENST00000266544.5	+	6	600	c.580G>A	c.(580-582)Gca>Aca	p.A194T	RP11-500M8.7_ENST00000536588.1_3'UTR	NM_005002.4	NP_004993.1	Q16795	NDUA9_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa	194					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|sodium ion transport (GO:0006814)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)|nucleus (GO:0005634)	coenzyme binding (GO:0050662)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)|protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21						AGTGAGAGATGCATTTCCGGA	0.373																																					Colon(75;996 1244 23946 25294 29232)	ENST00000266544.5																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21						c.(580-582)Gca>Aca		NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa	NADH(DB00157)						170.0	160.0	163.0					12																	4771726		2203	4300	6503	SO:0001583	missense	4704				mitochondrial electron transport, NADH to ubiquinone|sodium ion transport	mitochondrial matrix|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding	g.chr12:4771726G>A	AF050641	CCDS8532.1	12p13.3	2011-09-14	2002-08-29		ENSG00000139180	ENSG00000139180		"""Mitochondrial respiratory chain complex / Complex I"", ""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	7693	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 22E, member 1"", ""complex I 39kDa subunit"""	603834	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9 (39kD)"""	NDUFS2L		8486360, 19027726	Standard	NM_005002		Approved	SDR22E1, CI-39k	uc001qnc.3	Q16795		ENST00000266544.5:c.580G>A	12.37:g.4771726G>A	ENSP00000266544:p.Ala194Thr						p.A194T	NM_005002.4	NP_004993.1	Q16795	NDUA9_HUMAN			6	600	+			194					Q14076|Q2NKX0	Missense_Mutation	SNP	ENST00000266544.5	37	c.580G>A	CCDS8532.1	.	.	.	.	.	.	.	.	.	.	G	12.09	1.832446	0.32421	.	.	ENSG00000139180	ENST00000266544	D	0.93811	-3.29	5.15	2.21	0.28008	NAD(P)-binding domain (1);	0.377682	0.31859	N	0.006949	D	0.89375	0.6697	L	0.52126	1.63	0.37600	D	0.920528	B;B	0.14805	0.011;0.006	B;B	0.23150	0.044;0.044	T	0.82145	-0.0602	10	0.24483	T	0.36	-3.7303	10.3967	0.44205	0.2095:0.0:0.7905:0.0	.	194;194	A8K4V2;Q16795	.;NDUA9_HUMAN	T	194	ENSP00000266544:A194T	ENSP00000266544:A194T	A	+	1	0	NDUFA9	4641987	0.890000	0.30428	0.000000	0.03702	0.660000	0.38997	4.473000	0.60196	0.214000	0.20742	0.555000	0.69702	GCA		0.373	NDUFA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398900.2	NM_005002		24	87	0	0	0	1	0	24	87				
NCBP1	4686	broad.mit.edu	37	9	100405623	100405623	+	Missense_Mutation	SNP	A	A	G	rs201055450		TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr9:100405623A>G	ENST00000375147.3	+	4	618	c.362A>G	c.(361-363)tAt>tGt	p.Y121C		NM_002486.4	NP_002477.1	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa	121	MIF4G.				7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of viral transcription (GO:0050434)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|mRNA cap binding complex (GO:0005845)|nuclear cap binding complex (GO:0005846)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA cap binding (GO:0000339)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19		Acute lymphoblastic leukemia(62;0.158)				GCAAACAATTATAATGAAGCC	0.338																																					Ovarian(36;879 898 2893 44212 50307)	ENST00000375147.3																			0				NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19						c.(361-363)tAt>tGt		nuclear cap binding protein subunit 1, 80kDa							128.0	129.0	128.0					9																	100405623		2203	4300	6503	SO:0001583	missense	4686				gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex	protein binding|RNA cap binding	g.chr9:100405623A>G	BC001450	CCDS6728.1	9q34.1	2010-01-26	2002-08-29		ENSG00000136937	ENSG00000136937			7658	protein-coding gene	gene with protein product		600469	"""nuclear cap binding protein subunit 1, 80kD"""	NCBP		7937105, 8812508	Standard	NM_002486		Approved	CBP80, Sto1	uc004axq.3	Q09161	OTTHUMG00000020332	ENST00000375147.3:c.362A>G	9.37:g.100405623A>G	ENSP00000364289:p.Tyr121Cys						p.Y121C	NM_002486.4	NP_002477.1	Q09161	NCBP1_HUMAN			4	618	+		Acute lymphoblastic leukemia(62;0.158)	121			MIF4G.		B2R718|Q59G76|Q5T1V0|Q5T7X2	Missense_Mutation	SNP	ENST00000375147.3	37	c.362A>G	CCDS6728.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.177670	0.78564	.	.	ENSG00000136937	ENST00000375147	T	0.22945	1.93	5.5	5.5	0.81552	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	T	0.35038	0.0918	N	0.20685	0.6	0.80722	D	1	D	0.69078	0.997	D	0.68353	0.957	T	0.12142	-1.0559	10	0.40728	T	0.16	-18.3825	15.5857	0.76479	1.0:0.0:0.0:0.0	.	121	Q09161	NCBP1_HUMAN	C	121	ENSP00000364289:Y121C	ENSP00000364289:Y121C	Y	+	2	0	NCBP1	99445444	1.000000	0.71417	0.976000	0.42696	0.982000	0.71751	5.066000	0.64351	2.230000	0.72887	0.454000	0.30748	TAT		0.338	NCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053337.1	NM_002486		79	59	0	0	0	1	0	79	59				
MYH13	8735	broad.mit.edu	37	17	10265714	10265714	+	Missense_Mutation	SNP	T	T	A	rs145355767	byFrequency	TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr17:10265714T>A	ENST00000418404.3	-	3	474	c.311A>T	c.(310-312)tAc>tTc	p.Y104F	MYH13_ENST00000252172.4_Missense_Mutation_p.Y104F			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	104	Myosin motor.				cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TTTGAGGTTGTACAGAACAGC	0.453																																						ENST00000418404.3																			0				breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						c.(310-312)tAc>tTc		myosin, heavy chain 13, skeletal muscle							287.0	261.0	270.0					17																	10265714		2203	4300	6503	SO:0001583	missense	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10265714T>A	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.311A>T	17.37:g.10265714T>A	ENSP00000404570:p.Tyr104Phe					MYH13_ENST00000570743.1_Missense_Mutation_p.Y104F|MYH13_ENST00000252172.4_Missense_Mutation_p.Y104F	p.Y104F			Q9UKX3	MYH13_HUMAN			3	474	-			104			Myosin head-like.		O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	c.311A>T	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	T	4.494	0.091611	0.08632	.	.	ENSG00000006788	ENST00000252172	D	0.87256	-2.23	4.4	4.4	0.53042	Myosin head, motor domain (2);	.	.	.	.	D	0.82623	0.5077	L	0.39514	1.22	0.32574	N	0.529422	B	0.10296	0.003	B	0.22386	0.039	T	0.81623	-0.0849	9	0.31617	T	0.26	.	14.0676	0.64839	0.0:0.0:0.0:1.0	.	104	Q9UKX3	MYH13_HUMAN	F	104	ENSP00000252172:Y104F	ENSP00000252172:Y104F	Y	-	2	0	MYH13	10206439	1.000000	0.71417	1.000000	0.80357	0.128000	0.20619	2.338000	0.43957	1.979000	0.57680	0.383000	0.25322	TAC		0.453	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		54	131	0	0	0	1	0	54	131				
SMARCA4	6597	broad.mit.edu	37	19	11106910	11106910	+	Missense_Mutation	SNP	C	C	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr19:11106910C>T	ENST00000429416.3	+	11	1896	c.1615C>T	c.(1615-1617)Cgc>Tgc	p.R539C	SMARCA4_ENST00000590574.1_Missense_Mutation_p.R539C|SMARCA4_ENST00000358026.2_Missense_Mutation_p.R539C|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R539C|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R539C|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R539C|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R539C|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R539C|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R539C	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	539					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.R539C(1)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GGAGGGGTACCGCAAGCTCAT	0.557			"""F, N, Mis"""		NSCLC																																	ENST00000358026.2				Rec	yes		19	19p13.2	6597	"""F, N, Mis"""	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""			E			NSCLC		2	Substitution - Missense(1)|Unknown(1)	p.R539C(1)|p.?(1)	ovary(1)|lung(1)	adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163						c.(1615-1617)Cgc>Tgc		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4							173.0	147.0	156.0					19																	11106910		2203	4300	6503	SO:0001583	missense	6597				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11106910C>T	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.1615C>T	19.37:g.11106910C>T	ENSP00000395654:p.Arg539Cys					SMARCA4_ENST00000590574.1_Missense_Mutation_p.R539C|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R539C|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R539C|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R539C|SMARCA4_ENST00000429416.3_Missense_Mutation_p.R539C|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R539C|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R539C|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R539C	p.R539C	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN			10	1899	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	539					B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.1615C>T	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	C	19.65	3.866728	0.72065	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	T;T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0;1.0	4.83	3.72	0.42706	.	0.000000	0.64402	D	0.000001	T	0.64853	0.2636	M	0.82323	2.585	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;0.999;1.0;1.0	T	0.70350	-0.4896	10	0.87932	D	0	-31.4947	12.1614	0.54105	0.2756:0.7244:0.0:0.0	.	539;539;539;539;539;539;539	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;A7E2E1;P51532	.;.;.;.;.;.;SMCA4_HUMAN	C	539;539;603;539;539;539;539;539	ENSP00000395654:R539C;ENSP00000350720:R539C;ENSP00000343896:R539C;ENSP00000445036:R539C;ENSP00000392837:R539C;ENSP00000397783:R539C;ENSP00000414727:R539C	ENSP00000343896:R539C	R	+	1	0	SMARCA4	10967910	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	2.959000	0.49153	2.371000	0.80710	0.563000	0.77884	CGC		0.557	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		43	120	0	0	0	1	0	43	120				
SEC23IP	11196	broad.mit.edu	37	10	121693241	121693241	+	Nonsense_Mutation	SNP	C	C	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr10:121693241C>T	ENST00000369075.3	+	18	3037	c.2965C>T	c.(2965-2967)Cga>Tga	p.R989*	SEC23IP_ENST00000475542.1_3'UTR|SEC23IP_ENST00000543134.1_Nonsense_Mutation_p.R778*	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	989	DDHD. {ECO:0000255|PROSITE- ProRule:PRU00378}.				acrosome assembly (GO:0001675)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|single fertilization (GO:0007338)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear endoplasmic reticulum (GO:0097038)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R989*(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		AGAAATTTATCGAACAATGAA	0.313																																						ENST00000369075.3																			1	Substitution - Nonsense(1)	p.R989*(1)	endometrium(1)	NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36						c.(2965-2967)Cga>Tga		SEC23 interacting protein							81.0	75.0	77.0					10																	121693241		2203	4300	6503	SO:0001587	stop_gained	11196				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding	g.chr10:121693241C>T	AB019435	CCDS7618.1	10q26.11-q26.12	2013-01-10			ENSG00000107651	ENSG00000107651		"""Sterile alpha motif (SAM) domain containing"""	17018	protein-coding gene	gene with protein product						10400679	Standard	NM_007190		Approved	p125	uc001leu.2	Q9Y6Y8	OTTHUMG00000019161	ENST00000369075.3:c.2965C>T	10.37:g.121693241C>T	ENSP00000358071:p.Arg989*					SEC23IP_ENST00000543134.1_Nonsense_Mutation_p.R778*|SEC23IP_ENST00000475542.1_3'UTR	p.R989*	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN		all cancers(201;0.00515)	18	3037	+		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)	989			DDHD.		D3DRD2|Q8IXH5|Q9BUK5	Nonsense_Mutation	SNP	ENST00000369075.3	37	c.2965C>T	CCDS7618.1	.	.	.	.	.	.	.	.	.	.	C	37	6.566236	0.97667	.	.	ENSG00000107651	ENST00000369075;ENST00000543134	.	.	.	4.57	3.64	0.41730	.	0.347098	0.28730	N	0.014335	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.1714	12.3855	0.55330	0.3699:0.63:0.0:0.0	.	.	.	.	X	989;778	.	ENSP00000358071:R989X	R	+	1	2	SEC23IP	121683231	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	1.421000	0.34815	0.995000	0.38917	0.655000	0.94253	CGA		0.313	SEC23IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050688.1			8	54	0	0	0	1	0	8	54				
THSD7B	80731	broad.mit.edu	37	2	138169405	138169405	+	Missense_Mutation	SNP	T	T	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr2:138169405T>A	ENST00000409968.1	+	14	3100	c.2922T>A	c.(2920-2922)aaT>aaA	p.N974K	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.N943K|THSD7B_ENST00000272643.3_Missense_Mutation_p.N974K			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	974	TSP type-1 12. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CTGATAAAAATGGAAGACCTG	0.527																																						ENST00000409968.1																			0				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134						c.(2920-2922)aaT>aaA		thrombospondin, type I, domain containing 7B							50.0	52.0	51.0					2																	138169405		1939	4144	6083	SO:0001583	missense	80731							g.chr2:138169405T>A			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.2922T>A	2.37:g.138169405T>A	ENSP00000387145:p.Asn974Lys					THSD7B_ENST00000413152.2_Missense_Mutation_p.N943K|THSD7B_ENST00000272643.3_Missense_Mutation_p.N974K|THSD7B_ENST00000543459.1_Intron	p.N974K						BRCA - Breast invasive adenocarcinoma(221;0.19)	14	3100	+									Missense_Mutation	SNP	ENST00000409968.1	37	c.2922T>A		.	.	.	.	.	.	.	.	.	.	T	12.83	2.055183	0.36277	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.60672	0.17;0.17;0.17	5.72	-0.78	0.10969	.	1.032920	0.07553	N	0.915746	T	0.49932	0.1586	L	0.60455	1.87	0.80722	D	1	B;B	0.30793	0.295;0.215	B;B	0.29353	0.101;0.101	T	0.39702	-0.9601	10	0.13470	T	0.59	.	11.1923	0.48691	0.0:0.4163:0.0:0.5837	.	974;943	Q9C0I4;C9JKN6	THS7B_HUMAN;.	K	974;974;943	ENSP00000387145:N974K;ENSP00000272643:N974K;ENSP00000413841:N943K	ENSP00000272643:N974K	N	+	3	2	THSD7B	137885875	0.649000	0.27322	0.947000	0.38551	0.913000	0.54294	-0.118000	0.10692	-0.119000	0.11830	0.455000	0.32223	AAT		0.527	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		15	30	0	0	0	1	0	15	30				
ATXN3	4287	broad.mit.edu	37	14	92537302	92537302	+	Missense_Mutation	SNP	G	G	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr14:92537302G>A	ENST00000532032.1	-	10	977	c.968C>T	c.(967-969)tCa>tTa	p.S323L	ATXN3_ENST00000554491.1_5'UTR|ATXN3_ENST00000545170.1_Missense_Mutation_p.S332L|ATXN3_ENST00000393287.5_Missense_Mutation_p.S323L|ATXN3_ENST00000429774.2_Missense_Mutation_p.S316L|ATXN3_ENST00000340660.6_Missense_Mutation_p.S268L|ATXN3_ENST00000502250.1_Missense_Mutation_p.S144L|ATXN3_ENST00000503767.1_Missense_Mutation_p.S308L			P54252	ATX3_HUMAN	ataxin 3	323					actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|cellular response to misfolded protein (GO:0071218)|intermediate filament cytoskeleton organization (GO:0045104)|microtubule cytoskeleton organization (GO:0000226)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|monoubiquitinated protein deubiquitination (GO:0035520)|nervous system development (GO:0007399)|nucleotide-excision repair (GO:0006289)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of cell-substrate adhesion (GO:0010810)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATPase binding (GO:0051117)|identical protein binding (GO:0042802)|Lys48-specific deubiquitinase activity (GO:1990380)|Lys63-specific deubiquitinase activity (GO:0061578)|omega peptidase activity (GO:0008242)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	12		all_cancers(154;0.0768)		COAD - Colon adenocarcinoma(157;0.224)		AAGTGCTCCTGAACTGGTGGC	0.507																																					Esophageal Squamous(190;752 2094 29897 44875 49530)	ENST00000545170.1																			0				endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	12						c.(994-996)tCa>tTa		ataxin 3							200.0	149.0	166.0					14																	92537302		2203	4300	6503	SO:0001583	missense	4287				cell death|nervous system development|nucleotide-excision repair|regulation of transcription, DNA-dependent|synaptic transmission|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleoplasm	cysteine-type peptidase activity|protein binding	g.chr14:92537302G>A	U64820	CCDS9900.1, CCDS32143.1, CCDS45154.1, CCDS53908.1, CCDS73680.1	14q21	2014-09-17	2004-08-12	2004-08-13	ENSG00000066427	ENSG00000066427		"""Ataxins"""	7106	protein-coding gene	gene with protein product		607047	"""Machado-Joseph disease (spinocerebellar ataxia 3, olivopontocerebellar ataxia 3, autosomal dominant, ataxin 3)"""	SCA3, MJD		8358439	Standard	NM_004993		Approved	ATX3, JOS	uc001yac.4	P54252	OTTHUMG00000162212	ENST00000532032.1:c.968C>T	14.37:g.92537302G>A	ENSP00000437157:p.Ser323Leu					ATXN3_ENST00000429774.2_Missense_Mutation_p.S316L|ATXN3_ENST00000532032.1_Missense_Mutation_p.S323L|ATXN3_ENST00000393287.5_Missense_Mutation_p.S323L|ATXN3_ENST00000503767.1_Missense_Mutation_p.S308L|ATXN3_ENST00000340660.6_Missense_Mutation_p.S268L|ATXN3_ENST00000502250.1_Missense_Mutation_p.S144L|ATXN3_ENST00000554491.1_5'UTR	p.S332L	NM_001164774.1|NM_001164776.1|NM_001164777.1|NM_001164778.1|NM_004993.5	NP_001158246.1|NP_001158248.1|NP_001158249.1|NP_001158250.1|NP_004984.2	P54252	ATX3_HUMAN		COAD - Colon adenocarcinoma(157;0.224)	10	1063	-		all_cancers(154;0.0768)	323					A7LFZ5|D6RDL9|E9PB63|O15284|O15285|O15286|Q8N189|Q96TC3|Q96TC4|Q9H3N0	Missense_Mutation	SNP	ENST00000532032.1	37	c.995C>T		.	.	.	.	.	.	.	.	.	.	G	9.417	1.081965	0.20309	.	.	ENSG00000066427	ENST00000545278;ENST00000539555;ENST00000537884;ENST00000545170;ENST00000447800;ENST00000359819;ENST00000393289;ENST00000429774;ENST00000539454;ENST00000393287;ENST00000502250;ENST00000503767;ENST00000340660;ENST00000532032;ENST00000555381;ENST00000557311;ENST00000554592;ENST00000554672;ENST00000553491;ENST00000556220	T;T;T;T;T;T;T;T;T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12	5.27	3.34	0.38264	.	0.626255	0.15102	N	0.280493	T	0.46308	0.1386	N	0.24115	0.695	0.22034	N	0.999404	B;B;B;B;B	0.10296	0.001;0.0;0.002;0.003;0.001	B;B;B;B;B	0.17979	0.005;0.002;0.005;0.02;0.012	T	0.38243	-0.9670	10	0.46703	T	0.11	.	8.7634	0.34689	0.0:0.1639:0.6662:0.1699	.	323;308;334;268;323	P54252;E9PB63;F5H096;P54252-3;P54252-2	ATX3_HUMAN;.;.;.;.	L	339;336;334;332;332;331;328;316;337;323;144;308;268;323;253;144;322;225;272;217	ENSP00000445618:S332L;ENSP00000389376:S316L;ENSP00000376965:S323L;ENSP00000425322:S144L;ENSP00000426697:S308L;ENSP00000339110:S268L;ENSP00000437157:S323L;ENSP00000451001:S253L;ENSP00000450642:S144L;ENSP00000451385:S322L;ENSP00000451417:S225L;ENSP00000451996:S272L;ENSP00000450641:S217L	ENSP00000339110:S268L	S	-	2	0	ATXN3	91607055	0.961000	0.32948	0.496000	0.27539	0.014000	0.08584	1.560000	0.36331	1.220000	0.43490	0.454000	0.30748	TCA		0.507	ATXN3-015	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000388065.1	NM_004993		19	66	0	0	0	1	0	19	66				
AHNAK	79026	broad.mit.edu	37	11	62293276	62293276	+	Silent	SNP	G	G	C			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr11:62293276G>C	ENST00000378024.4	-	5	8887	c.8613C>G	c.(8611-8613)ctC>ctG	p.L2871L	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2871					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TGGGGCCTTTGAGGTCAACTT	0.468																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(8611-8613)ctC>ctG		AHNAK nucleoprotein							155.0	159.0	158.0					11																	62293276		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62293276G>C	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.8613C>G	11.37:g.62293276G>C						AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.L2871L	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	8887	-		Melanoma(852;0.155)	2871					A1A586	Silent	SNP	ENST00000378024.4	37	c.8613C>G	CCDS31584.1																																																																																				0.468	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		28	320	0	0	0	1	0	28	320				
EXOC6B	23233	broad.mit.edu	37	2	72968463	72968463	+	Silent	SNP	C	C	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr2:72968463C>T	ENST00000272427.6	-	2	379	c.249G>A	c.(247-249)ctG>ctA	p.L83L	EXOC6B_ENST00000410104.1_Silent_p.L83L	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	83					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						CTCTCACTTTCAGCAGTTCAG	0.418																																						ENST00000272427.6																			0				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						c.(247-249)ctG>ctA		exocyst complex component 6B							178.0	170.0	173.0					2																	72968463		1844	4095	5939	SO:0001819	synonymous_variant	23233				protein transport|vesicle docking involved in exocytosis	exocyst		g.chr2:72968463C>T	AB023136	CCDS46333.1	2p13.2	2013-01-22	2006-11-07	2006-11-07	ENSG00000144036	ENSG00000144036			17085	protein-coding gene	gene with protein product		607880	"""SEC15-like 2 (S. cerevisiae)"", ""SEC15 homolog B (S. cerevisiae)"""	SEC15L2, SEC15B		10231032, 11406615	Standard	NM_015189		Approved	KIAA0919	uc010fep.3	Q9Y2D4	OTTHUMG00000152723	ENST00000272427.6:c.249G>A	2.37:g.72968463C>T						EXOC6B_ENST00000410104.1_Silent_p.L83L	p.L83L	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN			2	379	-			83					B8ZZY3	Silent	SNP	ENST00000272427.6	37	c.249G>A	CCDS46333.1																																																																																				0.418	EXOC6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327558.1	XM_039570		24	189	0	0	0	1	0	24	189				
SPATA31D1	389763	broad.mit.edu	37	9	84608492	84608492	+	Missense_Mutation	SNP	A	A	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr9:84608492A>T	ENST00000344803.2	+	4	3154	c.3107A>T	c.(3106-3108)aAa>aTa	p.K1036I		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	1036					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CAAAGCGAAAAATTAGATTCA	0.433																																						ENST00000344803.2																			0											c.(3106-3108)aAa>aTa		SPATA31 subfamily D, member 1							157.0	160.0	159.0					9																	84608492		1857	4098	5955	SO:0001583	missense	389763							g.chr9:84608492A>T		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.3107A>T	9.37:g.84608492A>T	ENSP00000341988:p.Lys1036Ile						p.K1036I	NM_001001670.2	NP_001001670.1					4	3154	+									Missense_Mutation	SNP	ENST00000344803.2	37	c.3107A>T	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	A	11.62	1.693085	0.30052	.	.	ENSG00000214929	ENST00000344803	T	0.06528	3.29	1.67	0.432	0.16529	.	.	.	.	.	T	0.04770	0.0129	L	0.34521	1.04	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.40701	-0.9549	9	0.39692	T	0.17	-1.5648	3.9942	0.09551	0.686:0.0:0.0:0.314	.	1036	Q6ZQQ2	F75D1_HUMAN	I	1036	ENSP00000341988:K1036I	ENSP00000341988:K1036I	K	+	2	0	FAM75D1	83798312	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.154000	0.10130	0.117000	0.18138	-0.406000	0.06334	AAA		0.433	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		32	148	0	0	0	1	0	32	148				
PLA2G4B	100137049	broad.mit.edu	37	15	42135877	42135877	+	Silent	SNP	G	G	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr15:42135877G>A	ENST00000452633.1	+	12	1099	c.747G>A	c.(745-747)ctG>ctA	p.L249L	JMJD7-PLA2G4B_ENST00000342159.4_Silent_p.L480L|JMJD7-PLA2G4B_ENST00000382448.4_Silent_p.L480L|PLA2G4B_ENST00000458483.1_Silent_p.L249L|PLA2G4B_ENST00000542534.2_Silent_p.L480L			P0C869	PA24B_HUMAN	phospholipase A2, group IVB (cytosolic)	249	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|arachidonic acid metabolic process (GO:0019369)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|parturition (GO:0007567)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)						all_cancers(109;1.84e-13)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		all cancers(2;1.08e-30)|Epithelial(2;1.43e-22)|OV - Ovarian serous cystadenocarcinoma(18;1.13e-17)|GBM - Glioblastoma multiforme(94;9.77e-07)|Colorectal(2;0.0129)|COAD - Colon adenocarcinoma(120;0.0371)		CGGCCAGACTGAGGGAGCTGG	0.642																																						ENST00000382448.4																			0				endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						c.(1438-1440)ctG>ctA									35.0	34.0	34.0					15																	42135877		2203	4299	6502	SO:0001819	synonymous_variant	8681				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity	g.chr15:42135877G>A	AF065215	CCDS45241.1	15q11.2-q21.3	2010-08-17			ENSG00000243708	ENSG00000243708	3.1.1.4		9036	protein-coding gene	gene with protein product		606088				9705332	Standard	NM_001114633		Approved	cPLA2-beta, HsT16992		P0C869	OTTHUMG00000156809	ENST00000452633.1:c.747G>A	15.37:g.42135877G>A						JMJD7-PLA2G4B_ENST00000342159.4_Silent_p.L480L|PLA2G4B_ENST00000452633.1_Silent_p.L249L|JMJD7-PLA2G4B_ENST00000458483.1_Silent_p.L249L	p.L480L	NM_005090.3	NP_005081.1	P0C869	PA24B_HUMAN			16	1449	+			249			PLA2c.		B4DRT9|O95712|Q19KD5|Q19KD6|Q59GF9|Q8TB10|Q9UKV7	Silent	SNP	ENST00000452633.1	37	c.1440G>A	CCDS45241.1																																																																																				0.642	PLA2G4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345969.1	NM_001114633		14	54	0	0	0	1	0	14	54				
ITGB4	3691	broad.mit.edu	37	17	73736880	73736880	+	Missense_Mutation	SNP	G	G	A	rs144402600	byFrequency	TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr17:73736880G>A	ENST00000200181.3	+	22	2744	c.2557G>A	c.(2557-2559)Gag>Aag	p.E853K	ITGB4_ENST00000579662.1_Missense_Mutation_p.E853K|ITGB4_ENST00000450894.3_Missense_Mutation_p.E853K|ITGB4_ENST00000449880.2_Missense_Mutation_p.E853K|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000339591.3_Missense_Mutation_p.E853K	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	853					amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCAGCTGAACGAGGTCTACAG	0.687																																						ENST00000200181.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43						c.(2557-2559)Gag>Aag		integrin, beta 4		G	LYS/GLU,LYS/GLU,LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	56.0	56.0	56.0		2557,2557,2557	5.1	1.0	17	dbSNP_134	56	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense	ITGB4	NM_000213.3,NM_001005619.1,NM_001005731.1	56,56,56	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging,probably-damaging,probably-damaging	853/1823,853/1806,853/1753	73736880	2,13004	2203	4300	6503	SO:0001583	missense	3691				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity	g.chr17:73736880G>A		CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"""CD molecules"", ""Integrins"", ""Fibronectin type III domain containing"""	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.2557G>A	17.37:g.73736880G>A	ENSP00000200181:p.Glu853Lys					ITGB4_ENST00000579662.1_Missense_Mutation_p.E853K|ITGB4_ENST00000450894.3_Missense_Mutation_p.E853K|ITGB4_ENST00000449880.2_Missense_Mutation_p.E853K|ITGB4_ENST00000339591.3_Missense_Mutation_p.E853K|ITGB4_ENST00000584558.1_3'UTR	p.E853K	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		22	2744	+	all_cancers(13;1.5e-07)		853					A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Missense_Mutation	SNP	ENST00000200181.3	37	c.2557G>A	CCDS11727.1	.	.	.	.	.	.	.	.	.	.	G	15.95	2.984470	0.53934	2.27E-4	1.16E-4	ENSG00000132470	ENST00000200181;ENST00000339591;ENST00000449880	T;T;T	0.76968	-1.06;-1.0;-1.0	5.07	5.07	0.68467	.	0.121061	0.56097	D	0.000035	T	0.78266	0.4256	L	0.29908	0.895	0.58432	D	0.999999	D;D;D	0.62365	0.991;0.971;0.984	P;P;P	0.53102	0.718;0.526;0.691	T	0.81607	-0.0856	10	0.72032	D	0.01	.	18.4555	0.90718	0.0:0.0:1.0:0.0	.	853;853;853	P16144-3;A0AVL6;P16144	.;.;ITB4_HUMAN	K	853	ENSP00000200181:E853K;ENSP00000344079:E853K;ENSP00000400217:E853K	ENSP00000200181:E853K	E	+	1	0	ITGB4	71248475	1.000000	0.71417	0.998000	0.56505	0.612000	0.37316	8.029000	0.88807	2.353000	0.79882	0.561000	0.74099	GAG		0.687	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1			5	67	0	0	0	1	0	5	67				
FAM179B	23116	broad.mit.edu	37	14	45475443	45475443	+	Missense_Mutation	SNP	C	C	G			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr14:45475443C>G	ENST00000361577.3	+	5	3091	c.2877C>G	c.(2875-2877)ttC>ttG	p.F959L	FAM179B_ENST00000382233.2_Missense_Mutation_p.F959L|FAM179B_ENST00000361462.2_Missense_Mutation_p.F959L|KLHL28_ENST00000553817.1_Intron	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	959								p.F959F(1)		endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						AATTAAATTTCAAGGATAAAG	0.284																																						ENST00000361462.2																			1	Substitution - coding silent(1)	p.F959F(1)	large_intestine(1)	endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						c.(2875-2877)ttC>ttG		family with sequence similarity 179, member B							41.0	45.0	43.0					14																	45475443		2203	4300	6503	SO:0001583	missense	23116						binding	g.chr14:45475443C>G	AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"""KIAA0423"""	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.2877C>G	14.37:g.45475443C>G	ENSP00000355045:p.Phe959Leu					FAM179B_ENST00000361577.3_Missense_Mutation_p.F959L|FAM179B_ENST00000382233.2_Missense_Mutation_p.F959L|KLHL28_ENST00000553817.1_Intron	p.F959L			Q9Y4F4	F179B_HUMAN			5	3060	+			959					Q68D66|Q6PG27	Missense_Mutation	SNP	ENST00000361577.3	37	c.2877C>G	CCDS9681.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.90|13.90	2.374330|2.374330	0.42105|0.42105	.|.	.|.	ENSG00000198718|ENSG00000198718	ENST00000429476;ENST00000361577;ENST00000361462;ENST00000382233|ENST00000557250	T;T;T|.	0.28069|.	2.7;2.7;1.63|.	5.24|5.24	3.4|3.4	0.38934|0.38934	Armadillo-type fold (1);|.	0.706306|.	0.12555|.	N|.	0.458745|.	T|.	0.18676|.	0.0448|.	N|N	0.14661|0.14661	0.345|0.345	0.26031|0.26031	N|N	0.981735|0.981735	B;B;B|.	0.09022|.	0.0;0.0;0.002|.	B;B;B|.	0.10450|.	0.001;0.001;0.005|.	T|.	0.19811|.	-1.0294|.	10|.	0.13108|.	T|.	0.6|.	-0.5627|-0.5627	3.2629|3.2629	0.06855|0.06855	0.143:0.5652:0.1385:0.1534|0.143:0.5652:0.1385:0.1534	.|.	959;959;959|.	G3XAE9;Q9Y4F4;Q9Y4F4-2|.	.;F179B_HUMAN;.|.	L|X	959|151	ENSP00000355045:F959L;ENSP00000354917:F959L;ENSP00000371668:F959L|.	ENSP00000354917:F959L|.	F|S	+|+	3|2	2|0	FAM179B|FAM179B	44545193|44545193	0.974000|0.974000	0.33945|0.33945	0.934000|0.934000	0.37439|0.37439	0.984000|0.984000	0.73092|0.73092	0.388000|0.388000	0.20735|0.20735	0.583000|0.583000	0.29574|0.29574	0.563000|0.563000	0.77884|0.77884	TTC|TCA		0.284	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	XM_113781		16	36	0	0	0	1	0	16	36				
OR9Q1	219956	broad.mit.edu	37	11	57946991	57946991	+	Silent	SNP	C	C	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr11:57946991C>T	ENST00000335397.3	+	3	391	c.75C>T	c.(73-75)ctC>ctT	p.L25L		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	25						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				AATGGGCACTCCCTCTCTTCC	0.458																																						ENST00000335397.3																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(73-75)ctC>ctT		olfactory receptor, family 9, subfamily Q, member 1							233.0	216.0	222.0					11																	57946991		2201	4296	6497	SO:0001819	synonymous_variant	219956				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57946991C>T	AB065734	CCDS31543.1	11q12.1	2012-08-09				ENSG00000186509		"""GPCR / Class A : Olfactory receptors"""	14724	protein-coding gene	gene with protein product							Standard	NM_001005212		Approved		uc001nmj.3	Q8NGQ5		ENST00000335397.3:c.75C>T	11.37:g.57946991C>T							p.L25L	NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN			3	391	+		Breast(21;0.222)	25					Q2TAN3|Q96RA7	Silent	SNP	ENST00000335397.3	37	c.75C>T	CCDS31543.1																																																																																				0.458	OR9Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394538.2	NM_001005212		25	77	0	0	0	1	0	25	77				
KCNA7	3743	broad.mit.edu	37	19	49573904	49573904	+	Silent	SNP	G	G	T	rs140612328		TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr19:49573904G>T	ENST00000221444.1	-	2	1142	c.787C>A	c.(787-789)Cgg>Agg	p.R263R		NM_031886.2	NP_114092.2	Q96RP8	KCNA7_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 7	263					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)	Dalfampridine(DB06637)	CCTCGCTGCCGGGCCAGCTCG	0.567																																					Colon(74;686 1235 3793 23366 48562)	ENST00000221444.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11						c.(787-789)Cgg>Agg		potassium voltage-gated channel, shaker-related subfamily, member 7							77.0	71.0	73.0					19																	49573904		2203	4300	6503	SO:0001819	synonymous_variant	3743					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr19:49573904G>T	AF315818	CCDS12755.1	19q13.3	2012-07-05				ENSG00000104848		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6226	protein-coding gene	gene with protein product		176268				16382104	Standard	NM_031886		Approved	Kv1.7, HAK6	uc002pmg.3	Q96RP8		ENST00000221444.1:c.787C>A	19.37:g.49573904G>T							p.R263R	NM_031886.2	NP_114092.2	Q96RP8	KCNA7_HUMAN		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)	2	1142	-		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	263					A1KYX7|Q9BYS4	Silent	SNP	ENST00000221444.1	37	c.787C>A	CCDS12755.1																																																																																				0.567	KCNA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466263.1	NM_031886		32	75	1	0	5.90632e-09	1	6.46221e-09	32	75				
DAO	1610	broad.mit.edu	37	12	109284009	109284009	+	Missense_Mutation	SNP	A	A	C			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr12:109284009A>C	ENST00000228476.3	+	5	616	c.412A>C	c.(412-414)Att>Ctt	p.I138L	DAO_ENST00000551281.1_Intron	NM_001917.4	NP_001908.3	P14920	OXDA_HUMAN	D-amino-acid oxidase	138					cellular nitrogen compound metabolic process (GO:0034641)|D-alanine catabolic process (GO:0055130)|D-serine catabolic process (GO:0036088)|D-serine metabolic process (GO:0070178)|dopamine biosynthetic process (GO:0042416)|glyoxylate metabolic process (GO:0046487)|leucine metabolic process (GO:0006551)|proline catabolic process (GO:0006562)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	cofactor binding (GO:0048037)|D-amino-acid oxidase activity (GO:0003884)|FAD binding (GO:0071949)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26					Flavin adenine dinucleotide(DB03147)	CACAAGCCTAATTCTGGAGGG	0.433																																						ENST00000228476.3																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26						c.(412-414)Att>Ctt		D-amino-acid oxidase							127.0	116.0	120.0					12																	109284009		2203	4300	6503	SO:0001583	missense	1610				glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity	g.chr12:109284009A>C	D11370	CCDS9122.1	12q24.11	2013-09-20			ENSG00000110887	ENSG00000110887	1.4.3.3		2671	protein-coding gene	gene with protein product		124050				1356107, 8182053	Standard	NM_001917		Approved	DAMOX	uc001tnr.4	P14920	OTTHUMG00000169360	ENST00000228476.3:c.412A>C	12.37:g.109284009A>C	ENSP00000228476:p.Ile138Leu					DAO_ENST00000551281.1_Intron	p.I138L	NM_001917.4	NP_001908.3	P14920	OXDA_HUMAN			5	616	+			138					B2R7I5|Q16758|Q8N6R2	Missense_Mutation	SNP	ENST00000228476.3	37	c.412A>C	CCDS9122.1	.	.	.	.	.	.	.	.	.	.	A	7.186	0.590474	0.13812	.	.	ENSG00000110887	ENST00000228476;ENST00000547768;ENST00000547166	D;D;D	0.81579	-1.51;-1.51;-1.51	5.68	1.86	0.25419	FAD dependent oxidoreductase (1);NAD(P)-binding domain (1);	0.207172	0.56097	N	0.000024	T	0.63510	0.2517	N	0.17872	0.535	0.26518	N	0.974484	B	0.06786	0.001	B	0.16722	0.016	T	0.41556	-0.9502	10	0.07175	T	0.84	-10.5539	12.5102	0.56002	0.5805:0.4195:0.0:0.0	.	138	P14920	OXDA_HUMAN	L	138;15;138	ENSP00000228476:I138L;ENSP00000449967:I15L;ENSP00000447104:I138L	ENSP00000228476:I138L	I	+	1	0	DAO	107808138	1.000000	0.71417	0.496000	0.27539	0.953000	0.61014	2.265000	0.43311	0.075000	0.16796	-0.313000	0.08912	ATT		0.433	DAO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403682.1			33	53	0	0	0	1	0	33	53				
CHIA	27159	broad.mit.edu	37	1	111857201	111857201	+	Nonsense_Mutation	SNP	G	G	A	rs147282128	byFrequency	TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr1:111857201G>A	ENST00000369740.1	+	5	400	c.297G>A	c.(295-297)tgG>tgA	p.W99*	CHIA_ENST00000343320.6_Nonsense_Mutation_p.W99*|CHIA_ENST00000451398.2_5'UTR|CHIA_ENST00000483391.1_5'UTR|CHIA_ENST00000430615.1_5'UTR|CHIA_ENST00000353665.6_5'UTR	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	99	Chitooligosaccharide binding. {ECO:0000305}.				apoptotic process (GO:0006915)|cell wall chitin metabolic process (GO:0006037)|chitin catabolic process (GO:0006032)|chitin metabolic process (GO:0006030)|digestion (GO:0007586)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|positive regulation of chemokine secretion (GO:0090197)|production of molecular mediator involved in inflammatory response (GO:0002532)|response to fungus (GO:0009620)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|chitinase activity (GO:0004568)|kinase binding (GO:0019900)|lysozyme activity (GO:0003796)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		TTGGAGGCTGGAACTTCGGGA	0.443													G|||	3	0.000599042	0.0008	0.0029	5008	,	,		16777	0.0		0.0	False		,,,				2504	0.0					ENST00000369740.1																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23						c.(295-297)tgG>tgA		chitinase, acidic		G	,stop/TRP	0,3742		0,0,1871	111.0	109.0	109.0		,297	4.6	1.0	1	dbSNP_134	109	9,8197		0,9,4094	yes	utr-5,stop-gained	CHIA	NM_021797.2,NM_201653.2	,	0,9,5965	AA,AG,GG		0.1097,0.0,0.0753	,	,99/477	111857201	9,11939	1871	4103	5974	SO:0001587	stop_gained	27159				apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding	g.chr1:111857201G>A	AF290004	CCDS832.1, CCDS41368.1, CCDS58017.1	1p13.2	2008-05-14			ENSG00000134216	ENSG00000134216			17432	protein-coding gene	gene with protein product		606080				11085997	Standard	NM_021797		Approved	AMCase, TSA1902, CHIT2	uc001eas.4	Q9BZP6	OTTHUMG00000011165	ENST00000369740.1:c.297G>A	1.37:g.111857201G>A	ENSP00000358755:p.Trp99*					CHIA_ENST00000483391.1_5'UTR|CHIA_ENST00000451398.2_5'UTR|CHIA_ENST00000430615.1_5'UTR|CHIA_ENST00000353665.6_5'UTR|CHIA_ENST00000343320.6_Nonsense_Mutation_p.W99*	p.W99*	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)	5	400	+		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)	99			Chitooligosaccharide binding (Probable).		Q32W79|Q32W80|Q3B866|Q5U5Z5|Q5VUV4|Q86UD8|Q9ULY3|Q9ULY4	Nonsense_Mutation	SNP	ENST00000369740.1	37	c.297G>A	CCDS41368.1	2	9.157509157509158E-4	0	0.0	2	0.0055248618784530384	0	0.0	0	0.0	G	36	5.630077	0.96671	0.0	0.001097	ENSG00000134216	ENST00000422815;ENST00000369740;ENST00000343320	.	.	.	4.56	4.56	0.56223	.	0.000000	0.64402	U	0.000009	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.6189	15.1925	0.73057	0.0:0.0:1.0:0.0	.	.	.	.	X	43;99;99	.	ENSP00000341828:W99X	W	+	3	0	CHIA	111658724	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	7.020000	0.76419	2.233000	0.73108	0.462000	0.41574	TGG		0.443	CHIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030710.1			20	29	0	0	0	1	0	20	29				
GRM3	2913	broad.mit.edu	37	7	86416063	86416063	+	Missense_Mutation	SNP	G	G	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr7:86416063G>A	ENST00000361669.2	+	3	2054	c.955G>A	c.(955-957)Ggc>Agc	p.G319S	GRM3_ENST00000394720.2_Missense_Mutation_p.G317S|GRM3_ENST00000439827.1_Missense_Mutation_p.G319S|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.G191S|AC005009.2_ENST00000418031.1_RNA|AC005009.2_ENST00000452471.1_RNA	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	319					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					TGTGGCCTACGGCGCCATCAC	0.672																																					GBM(52;969 1098 3139 52280)	ENST00000361669.2																			0				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109						c.(955-957)Ggc>Agc		glutamate receptor, metabotropic 3	Acamprosate(DB00659)|Nicotine(DB00184)						37.0	37.0	37.0					7																	86416063		2203	4300	6503	SO:0001583	missense	2913				synaptic transmission	integral to plasma membrane		g.chr7:86416063G>A		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.955G>A	7.37:g.86416063G>A	ENSP00000355316:p.Gly319Ser					GRM3_ENST00000439827.1_Missense_Mutation_p.G319S|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.G191S|GRM3_ENST00000394720.2_Missense_Mutation_p.G317S	p.G319S	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN			3	2054	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		319					Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	c.955G>A	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	G	35	5.484895	0.96323	.	.	ENSG00000198822	ENST00000361669;ENST00000536043;ENST00000439827;ENST00000394720	D;D;D;D	0.91894	-2.93;-2.93;-2.93;-2.93	5.93	5.93	0.95920	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.96555	0.8876	M	0.86573	2.825	0.80722	D	1	D;D;D	0.89917	0.976;1.0;0.981	P;D;P	0.67548	0.746;0.952;0.835	D	0.96566	0.9419	10	0.72032	D	0.01	.	19.3249	0.94258	0.0:0.0:1.0:0.0	.	191;319;319	F5GYZ2;G5E9K2;Q14832	.;.;GRM3_HUMAN	S	319;191;319;317	ENSP00000355316:G319S;ENSP00000441407:G191S;ENSP00000398767:G319S;ENSP00000378209:G317S	ENSP00000355316:G319S	G	+	1	0	GRM3	86253999	1.000000	0.71417	0.977000	0.42913	0.981000	0.71138	7.938000	0.87678	2.805000	0.96524	0.655000	0.94253	GGC		0.672	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			16	43	0	0	0	1	0	16	43				
ATP8B4	79895	broad.mit.edu	37	15	50223357	50223357	+	Missense_Mutation	SNP	A	A	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr15:50223357A>T	ENST00000284509.6	-	16	1742	c.1601T>A	c.(1600-1602)tTt>tAt	p.F534Y	ATP8B4_ENST00000559829.1_Missense_Mutation_p.F534Y	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	534						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		GAAATCCAAAAAGGCAAGTAA	0.368																																						ENST00000284509.6																			0				breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73						c.(1600-1602)tTt>tAt		ATPase, class I, type 8B, member 4							161.0	153.0	156.0					15																	50223357		2196	4295	6491	SO:0001583	missense	79895				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:50223357A>T	AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"""ATPases / P-type"""	13536	protein-coding gene	gene with protein product		609123	"""ATPase, Class I, type 8B, member 4"""			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.1601T>A	15.37:g.50223357A>T	ENSP00000284509:p.Phe534Tyr					ATP8B4_ENST00000559829.1_Missense_Mutation_p.F534Y	p.F534Y	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)	16	1742	-		all_lung(180;0.00183)	534					Q9H727	Missense_Mutation	SNP	ENST00000284509.6	37	c.1601T>A	CCDS32238.1	.	.	.	.	.	.	.	.	.	.	A	28.9	4.960854	0.92791	.	.	ENSG00000104043	ENST00000284509	T	0.67698	-0.28	5.61	5.61	0.85477	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.055368	0.64402	D	0.000004	T	0.70842	0.3270	L	0.46614	1.455	0.36730	D	0.88164	P	0.51653	0.947	P	0.53549	0.729	T	0.78600	-0.2141	10	0.87932	D	0	.	13.7541	0.62926	1.0:0.0:0.0:0.0	.	534	Q8TF62	AT8B4_HUMAN	Y	534	ENSP00000284509:F534Y	ENSP00000284509:F534Y	F	-	2	0	ATP8B4	48010649	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	9.037000	0.93765	2.139000	0.66308	0.477000	0.44152	TTT		0.368	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837		37	80	0	0	0	1	0	37	80				
COL14A1	7373	broad.mit.edu	37	8	121222051	121222051	+	Nonsense_Mutation	SNP	C	C	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr8:121222051C>T	ENST00000297848.3	+	12	1648	c.1378C>T	c.(1378-1380)Cga>Tga	p.R460*	COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Nonsense_Mutation_p.R365*|COL14A1_ENST00000309791.4_Nonsense_Mutation_p.R460*|COL14A1_ENST00000537875.1_Nonsense_Mutation_p.R460*	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GAACAGCATGCGAGTCAAATG	0.468																																						ENST00000297848.3																			0				NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119						c.(1378-1380)Cga>Tga		collagen, type XIV, alpha 1							119.0	110.0	113.0					8																	121222051		2203	4300	6503	SO:0001587	stop_gained	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121222051C>T		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.1378C>T	8.37:g.121222051C>T	ENSP00000297848:p.Arg460*					COL14A1_ENST00000537875.1_Nonsense_Mutation_p.R460*|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Nonsense_Mutation_p.R460*|COL14A1_ENST00000247781.3_Nonsense_Mutation_p.R365*	p.R460*	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		12	1648	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		460			Fibronectin type-III 3.			Nonsense_Mutation	SNP	ENST00000297848.3	37	c.1378C>T	CCDS34938.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.63|16.63	3.178115|3.178115	0.57692|0.57692	.|.	.|.	ENSG00000187955|ENSG00000187955	ENST00000523142|ENST00000537875;ENST00000309791;ENST00000297848;ENST00000247781;ENST00000434620	.|.	.|.	.|.	5.31|5.31	2.08|2.08	0.27032|0.27032	.|.	.|0.238373	.|0.40554	.|N	.|0.001067	T|.	0.31857|.	0.0810|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.37079|.	-0.9721|.	3|.	.|0.02654	.|T	.|1	.|.	13.2762|13.2762	0.60188|0.60188	0.553:0.447:0.0:0.0|0.553:0.447:0.0:0.0	.|.	.|.	.|.	.|.	V|X	216|460;460;460;365;273	.|.	.|ENSP00000247781:R365X	A|R	+|+	2|1	0|2	COL14A1|COL14A1	121291232|121291232	0.971000|0.971000	0.33674|0.33674	0.011000|0.011000	0.14972|0.14972	0.318000|0.318000	0.28184|0.28184	0.645000|0.645000	0.24782|0.24782	0.689000|0.689000	0.31550|0.31550	0.650000|0.650000	0.86243|0.86243	GCG|CGA		0.468	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		4	132	0	0	0	1	0	4	132				
PAPOLG	64895	broad.mit.edu	37	2	60998716	60998716	+	Silent	SNP	C	C	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr2:60998716C>T	ENST00000238714.3	+	7	804	c.555C>T	c.(553-555)gaC>gaT	p.D185D		NM_022894.3	NP_075045.2	Q9BWT3	PAPOG_HUMAN	poly(A) polymerase gamma	185					mRNA polyadenylation (GO:0006378)|RNA polyadenylation (GO:0043631)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			ATCTAAGAGACGACTCTCGCC	0.343																																					GBM(183;1497 2932 21839 46797)	ENST00000238714.3																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35						c.(553-555)gaC>gaT		poly(A) polymerase gamma							81.0	85.0	83.0					2																	60998716		2203	4300	6503	SO:0001819	synonymous_variant	64895				mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding	g.chr2:60998716C>T	AC012498	CCDS1863.1	2p16.1	2008-02-08			ENSG00000115421	ENSG00000115421	2.7.7.19		14982	protein-coding gene	gene with protein product							Standard	NM_022894		Approved	FLJ12972	uc002sai.3	Q9BWT3	OTTHUMG00000129419	ENST00000238714.3:c.555C>T	2.37:g.60998716C>T							p.D185D	NM_022894.3	NP_075045.2	Q9BWT3	PAPOG_HUMAN	LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)		7	804	+	all_hematologic(2;0.0797)		185					B2RBH4|Q59G05|Q969N1|Q9H8L2|Q9HAD0	Silent	SNP	ENST00000238714.3	37	c.555C>T	CCDS1863.1																																																																																				0.343	PAPOLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251577.3	NM_022894		25	92	0	0	0	1	0	25	92				
THSD7A	221981	broad.mit.edu	37	7	11441590	11441590	+	Missense_Mutation	SNP	A	A	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr7:11441590A>T	ENST00000423059.4	-	23	4494	c.4243T>A	c.(4243-4245)Tgt>Agt	p.C1415S	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1415	TSP type-1 15. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TTCAAATAACAGTCACCTGTA	0.448										HNSCC(18;0.044)																												ENST00000423059.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113						c.(4243-4245)Tgt>Agt		thrombospondin, type I, domain containing 7A							98.0	97.0	98.0					7																	11441590		1917	4134	6051	SO:0001583	missense	221981					integral to membrane		g.chr7:11441590A>T		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.4243T>A	7.37:g.11441590A>T	ENSP00000406482:p.Cys1415Ser	HNSCC(18;0.044)				AC004538.3_ENST00000445839.1_RNA	p.C1415S	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	23	4494	-			1415			TSP type-1 15.			Missense_Mutation	SNP	ENST00000423059.4	37	c.4243T>A	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.655893	0.88056	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.20881	2.04	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.51635	0.1686	M	0.85859	2.78	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.56751	-0.7927	10	0.51188	T	0.08	.	15.841	0.78845	1.0:0.0:0.0:0.0	.	1415	Q9UPZ6	THS7A_HUMAN	S	1415	ENSP00000406482:C1415S	ENSP00000262042:C1415S	C	-	1	0	THSD7A	11408115	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.935000	0.92923	2.146000	0.66826	0.459000	0.35465	TGT		0.448	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		17	61	0	0	0	1	0	17	61				
ZC3H14	79882	broad.mit.edu	37	14	89037454	89037454	+	Missense_Mutation	SNP	G	G	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr14:89037454G>A	ENST00000251038.5	+	4	446	c.221G>A	c.(220-222)cGc>cAc	p.R74H	ZC3H14_ENST00000336693.4_Missense_Mutation_p.R40H|ZC3H14_ENST00000556945.1_Missense_Mutation_p.R74H|ZC3H14_ENST00000557607.1_5'UTR|ZC3H14_ENST00000555755.1_Missense_Mutation_p.R74H|ZC3H14_ENST00000393514.5_Missense_Mutation_p.R74H|ZC3H14_ENST00000359301.3_Missense_Mutation_p.R40H|ZC3H14_ENST00000302216.8_Missense_Mutation_p.R74H	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	74						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						GATAAACTTCGCTCTGTTACA	0.294																																						ENST00000251038.5																			0				cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						c.(220-222)cGc>cAc		zinc finger CCCH-type containing 14							88.0	89.0	89.0					14																	89037454		2202	4295	6497	SO:0001583	missense	79882					cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding	g.chr14:89037454G>A	AF155107	CCDS32133.1, CCDS32134.1, CCDS32135.1, CCDS32136.1, CCDS55938.1	14q31.3	2014-08-12			ENSG00000100722	ENSG00000100722		"""Zinc fingers, CCCH-type domain containing"""	20509	protein-coding gene	gene with protein product		613279				10508479	Standard	NM_024824		Approved	FLJ11806, UKp68, NY-REN-37	uc001xww.3	Q6PJT7	OTTHUMG00000170803	ENST00000251038.5:c.221G>A	14.37:g.89037454G>A	ENSP00000251038:p.Arg74His					ZC3H14_ENST00000359301.3_Missense_Mutation_p.R40H|ZC3H14_ENST00000393514.5_Missense_Mutation_p.R74H|ZC3H14_ENST00000557607.1_5'UTR|ZC3H14_ENST00000555755.1_Missense_Mutation_p.R74H|ZC3H14_ENST00000336693.4_Missense_Mutation_p.R40H|ZC3H14_ENST00000302216.8_Missense_Mutation_p.R74H|ZC3H14_ENST00000556945.1_Missense_Mutation_p.R74H	p.R74H	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN			4	446	+			74					A8MY46|B4DXU8|B4DZW7|B4E2H4|G3V5R4|Q6MZU4|Q6PJ32|Q6PUI6|Q6PUI8|Q86TQ5|Q86TW0|Q86TW1|Q8NCT6|Q8NCZ3|Q8TDE2|Q9HAC9|Q9Y5A0	Missense_Mutation	SNP	ENST00000251038.5	37	c.221G>A	CCDS32133.1	.	.	.	.	.	.	.	.	.	.	G	31	5.081311	0.94050	.	.	ENSG00000100722	ENST00000251038;ENST00000393530;ENST00000353091;ENST00000359301;ENST00000302216;ENST00000554602;ENST00000380684;ENST00000556945;ENST00000556158;ENST00000555799;ENST00000555755;ENST00000393514;ENST00000336693;ENST00000557693;ENST00000555120	T;T;T;T;T;T;T;T;T;T;T;T	0.72835	-0.69;-0.69;-0.69;-0.69;-0.69;-0.69;-0.69;-0.69;-0.69;-0.69;-0.69;-0.69	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.80623	0.4658	L	0.46157	1.445	0.50313	D	0.999869	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.79108	0.969;0.988;0.992;0.988	T	0.78437	-0.2204	10	0.42905	T	0.14	-11.2783	18.479	0.90804	0.0:0.0:1.0:0.0	.	74;74;74;74	G3V5R4;Q6PJT7-2;Q6PJT7-3;Q6PJT7	.;.;.;ZC3HE_HUMAN	H	74;74;74;40;74;40;74;74;61;40;74;74;40;40;40	ENSP00000251038:R74H;ENSP00000352250:R40H;ENSP00000307025:R74H;ENSP00000451638:R40H;ENSP00000450474:R74H;ENSP00000451389:R61H;ENSP00000451489:R40H;ENSP00000452475:R74H;ENSP00000377150:R74H;ENSP00000338002:R40H;ENSP00000452210:R40H;ENSP00000450451:R40H	ENSP00000251038:R74H	R	+	2	0	ZC3H14	88107207	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.921000	0.87530	2.793000	0.96121	0.655000	0.94253	CGC		0.294	ZC3H14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410387.1	NM_024824		30	79	0	0	0	1	0	30	79				
KIF2B	84643	broad.mit.edu	37	17	51901823	51901823	+	Missense_Mutation	SNP	G	G	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr17:51901823G>A	ENST00000268919.4	+	1	1585	c.1429G>A	c.(1429-1431)Gcc>Acc	p.A477T		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	477	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GAGTCTTCTAGCCCTCAAAGA	0.507																																						ENST00000268919.4																			0				NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(1429-1431)Gcc>Acc		kinesin family member 2B							47.0	43.0	45.0					17																	51901823		2203	4300	6503	SO:0001583	missense	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51901823G>A	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.1429G>A	17.37:g.51901823G>A	ENSP00000268919:p.Ala477Thr						p.A477T	NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN			1	1585	+			477					Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	c.1429G>A	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	G	18.12	3.553591	0.65425	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.75154	-0.91	5.73	4.76	0.60689	Kinesin, motor domain (3);	0.000000	0.44688	D	0.000437	T	0.81978	0.4937	M	0.66939	2.045	0.29231	N	0.873254	D	0.59767	0.986	P	0.59115	0.852	T	0.79596	-0.1738	10	0.62326	D	0.03	.	13.8979	0.63785	0.0729:0.0:0.9271:0.0	.	477	Q8N4N8	KIF2B_HUMAN	T	477;365	ENSP00000268919:A477T	ENSP00000268919:A477T	A	+	1	0	KIF2B	49256822	1.000000	0.71417	0.132000	0.22025	0.934000	0.57294	6.647000	0.74354	1.545000	0.49373	0.655000	0.94253	GCC		0.507	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		13	38	0	0	0	1	0	13	38				
B3GNT1	11041	broad.mit.edu	37	11	66113655	66113655	+	Missense_Mutation	SNP	C	C	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr11:66113655C>A	ENST00000311181.4	-	2	1259	c.1113G>T	c.(1111-1113)ttG>ttT	p.L371F	RP11-867G23.8_ENST00000531602.1_5'Flank|BRMS1_ENST00000359957.3_5'Flank|BRMS1_ENST00000425825.2_5'Flank	NM_006876.2	NP_006867.1	O43505	B3GN1_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1	371					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|poly-N-acetyllactosamine biosynthetic process (GO:0030311)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity (GO:0008532)			breast(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1)	12						CCTTATGAACCAAGAAACCTT	0.463																																						ENST00000311181.4																			0				breast(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1)	12						c.(1111-1113)ttG>ttT		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1							155.0	148.0	150.0					11																	66113655		2200	4295	6495	SO:0001583	missense	11041				poly-N-acetyllactosamine biosynthetic process	integral to Golgi membrane	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity	g.chr11:66113655C>A	AF029893	CCDS8136.1	11q13.2	2014-07-08	2006-04-12	2006-04-12	ENSG00000174684	ENSG00000174684	2.4.1.149	"""Beta 3-glycosyltransferases"""	15685	protein-coding gene	gene with protein product	"""N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase"""	605517	"""UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6"""	B3GNT6		9405606	Standard	NM_006876		Approved	iGNT, iGAT, iGnT, BETA3GNTI, B3GN-T1	uc001ohr.3	O43505	OTTHUMG00000167082	ENST00000311181.4:c.1113G>T	11.37:g.66113655C>A	ENSP00000309096:p.Leu371Phe						p.L371F	NM_006876.2	NP_006867.1	O43505	B3GN1_HUMAN			2	1259	-			371					Q4TTN0	Missense_Mutation	SNP	ENST00000311181.4	37	c.1113G>T	CCDS8136.1	.	.	.	.	.	.	.	.	.	.	C	14.31	2.496374	0.44352	.	.	ENSG00000174684	ENST00000311181;ENST00000538757	T	0.27402	1.67	5.13	4.21	0.49690	.	0.080294	0.51477	D	0.000082	T	0.55305	0.1912	M	0.79805	2.47	0.48975	D	0.999738	D	0.76494	0.999	D	0.75484	0.986	T	0.59616	-0.7421	10	0.62326	D	0.03	-13.9374	11.7008	0.51569	0.0:0.9126:0.0:0.0874	.	371	O43505	B3GN1_HUMAN	F	371;142	ENSP00000309096:L371F	ENSP00000309096:L371F	L	-	3	2	B3GNT1	65870231	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.286000	0.33273	1.162000	0.42619	0.655000	0.94253	TTG		0.463	B3GNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392959.1	NM_006876		25	65	1	0	1.66031e-10	1	1.84552e-10	25	65				
HRH1	3269	broad.mit.edu	37	3	11300990	11300990	+	Silent	SNP	C	C	G			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr3:11300990C>G	ENST00000397056.1	+	3	458	c.267C>G	c.(265-267)ctC>ctG	p.L89L	HRH1_ENST00000438284.2_Silent_p.L89L|HRH1_ENST00000431010.2_Silent_p.L89L	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	89					cellular response to histamine (GO:0071420)|eosinophil chemotaxis (GO:0048245)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|inositol phosphate-mediated signaling (GO:0048016)|memory (GO:0007613)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of vasoconstriction (GO:0045907)|regulation of synaptic plasticity (GO:0048167)|regulation of vascular permeability (GO:0043114)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|histamine receptor activity (GO:0004969)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Alcaftadine(DB06766)|Alimemazine(DB01246)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Antazoline(DB08799)|Aripiprazole(DB01238)|Asenapine(DB06216)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzatropine(DB00245)|Bepotastine(DB04890)|Betahistine(DB06698)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlorcyclizine(DB08936)|Chloropyramine(DB08800)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Citalopram(DB00215)|Clemastine(DB00283)|Clofedanol(DB04837)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Dimetindene(DB08801)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Escitalopram(DB01175)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Iloperidone(DB04946)|Imipramine(DB00458)|Isothipendyl(DB08802)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Loxapine(DB00408)|Maprotiline(DB00934)|Meclizine(DB00737)|Mepyramine(DB06691)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Paliperidone(DB01267)|Phenindamine(DB01619)|Pheniramine(DB01620)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Tolazoline(DB00797)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	TCTACCTGCTCATGTCCAAGT	0.557																																						ENST00000397056.1																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						c.(265-267)ctC>ctG		histamine receptor H1	Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)						187.0	165.0	172.0					3																	11300990		2203	4300	6503	SO:0001819	synonymous_variant	3269				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity	g.chr3:11300990C>G		CCDS2604.1	3p25	2012-11-12			ENSG00000196639	ENSG00000196639		"""GPCR / Class A : Histamine receptors"""	5182	protein-coding gene	gene with protein product		600167				8003029	Standard	NM_001098211		Approved		uc010hds.3	P35367	OTTHUMG00000129719	ENST00000397056.1:c.267C>G	3.37:g.11300990C>G						HRH1_ENST00000438284.2_Silent_p.L89L|HRH1_ENST00000431010.2_Silent_p.L89L	p.L89L	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN			3	458	+			89					A8K047|Q6P9E5	Silent	SNP	ENST00000397056.1	37	c.267C>G	CCDS2604.1																																																																																				0.557	HRH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251928.2			23	120	0	0	0	1	0	23	120				
BCL9	607	broad.mit.edu	37	1	147090756	147090756	+	Silent	SNP	C	C	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr1:147090756C>A	ENST00000234739.3	+	8	1535	c.795C>A	c.(793-795)ccC>ccA	p.P265P		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	265	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					CACCAGCACCCAAGCCTGCCG	0.602			T	"""IGH@, IGL@"""	B-ALL																																	ENST00000234739.3				Dom	yes		1	1q21	607	T	B-cell CLL/lymphoma 9			L	"""IGH@, IGL@"""		B-ALL		0				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7						c.(793-795)ccC>ccA		B-cell CLL/lymphoma 9							54.0	56.0	55.0					1																	147090756		2203	4300	6503	SO:0001819	synonymous_variant	607				Wnt receptor signaling pathway	nucleus	protein binding	g.chr1:147090756C>A	Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.795C>A	1.37:g.147090756C>A							p.P265P	NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN			8	1535	+	all_hematologic(923;0.115)		265			Pro-rich.		Q5T489	Silent	SNP	ENST00000234739.3	37	c.795C>A	CCDS30833.1																																																																																				0.602	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	NM_004326		32	59	1	0	6.04164e-23	1	6.90827e-23	32	59				
UBA6	55236	broad.mit.edu	37	4	68527946	68527946	+	Missense_Mutation	SNP	C	C	G			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr4:68527946C>G	ENST00000322244.5	-	13	1124	c.1065G>C	c.(1063-1065)ttG>ttC	p.L355F	UBA6_ENST00000420827.2_Missense_Mutation_p.L355F	NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	355					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|FAT10 activating enzyme activity (GO:0019780)|ligase activity (GO:0016874)			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						TTGCTAGTTTCAACAGTTCTT	0.333																																						ENST00000322244.4																			0				central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						c.(1063-1065)ttG>ttC		ubiquitin-like modifier activating enzyme 6							133.0	133.0	133.0					4																	68527946		2202	4298	6500	SO:0001583	missense	55236				protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding	g.chr4:68527946C>G	AK094164	CCDS3516.1	4q13.2	2008-02-05	2007-11-30	2007-11-30	ENSG00000033178	ENSG00000033178		"""Ubiquitin-like modifier activating enzymes"""	25581	protein-coding gene	gene with protein product	"""UBA6, ubiquitin-activating enzyme E1"""	611361	"""ubiquitin-activating enzyme E1-like 2"""	UBE1L2		17580310	Standard	NM_018227		Approved	FLJ10808	uc003hdg.4	A0AVT1	OTTHUMG00000129299	ENST00000322244.5:c.1065G>C	4.37:g.68527946C>G	ENSP00000313454:p.Leu355Phe					UBA6_ENST00000420827.2_Missense_Mutation_p.L355F	p.L355F	NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN			13	1124	-			355					A6N8M7|B2RAV3|Q4W5K0|Q6UV21|Q86T78|Q86TC7|Q8N5T3|Q8N9E4|Q9H3T7|Q9NVC9	Missense_Mutation	SNP	ENST00000322244.5	37	c.1065G>C	CCDS3516.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.923942	0.52653	.	.	ENSG00000033178	ENST00000322244;ENST00000420827	T;T	0.31769	1.48;1.48	5.92	5.08	0.68730	Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.074095	0.56097	D	0.000034	T	0.45236	0.1332	L	0.53729	1.69	0.54753	D	0.999986	D;P	0.63880	0.993;0.901	P;B	0.60682	0.878;0.408	T	0.32824	-0.9892	10	0.41790	T	0.15	0.0153	11.9903	0.53171	0.0:0.92:0.0:0.08	.	355;355	A0AVT1-3;A0AVT1	.;UBA6_HUMAN	F	355	ENSP00000313454:L355F;ENSP00000399234:L355F	ENSP00000313454:L355F	L	-	3	2	UBA6	68210541	0.997000	0.39634	1.000000	0.80357	0.992000	0.81027	0.475000	0.22164	1.514000	0.48869	0.467000	0.42956	TTG		0.333	UBA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251429.2	NM_018227		6	90	0	0	0	1	0	6	90				
NMRK2	27231	broad.mit.edu	37	19	3942082	3942082	+	Splice_Site	SNP	C	C	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr19:3942082C>T	ENST00000168977.2	+	8	794	c.504C>T	c.(502-504)gtC>gtT	p.V168V	NMRK2_ENST00000599576.1_Splice_Site_p.L100L|NMRK2_ENST00000593949.1_Splice_Site_p.V173V	NM_170678.2	NP_733778.1	Q9NPI5	NRK2_HUMAN	nicotinamide riboside kinase 2	168					NAD biosynthetic process (GO:0009435)|negative regulation of myoblast differentiation (GO:0045662)	intracellular (GO:0005622)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|ribosylnicotinamide kinase activity (GO:0050262)										TGATTTCAGTCTACCTGGACG	0.617																																						ENST00000168977.2																			0											c.e8-1		nicotinamide riboside kinase 2							39.0	41.0	40.0					19																	3942082		2202	4299	6501	SO:0001630	splice_region_variant	27231							g.chr19:3942082C>T	AF190819	CCDS12115.1, CCDS74259.1	19p13.3	2013-10-28	2012-05-31	2012-05-31	ENSG00000077009	ENSG00000077009			17871	protein-coding gene	gene with protein product	"""muscle-specific beta 1 integrin binding protein"", ""nicotinamide riboside kinase 2"""	608705	"""integrin beta 1 binding protein 3"""	ITGB1BP3		10613898, 15137942	Standard	NM_170678		Approved	MIBP, NRK2	uc002lyz.4	Q9NPI5	OTTHUMG00000181758	ENST00000168977.2:c.503-1C>T	19.37:g.3942082C>T						NMRK2_ENST00000599576.1_Splice_Site_p.L100_splice|NMRK2_ENST00000593949.1_Splice_Site_p.V173_splice	p.V168_splice	NM_170678.2	NP_733778.1					8	794	+								B7ZKR3|Q52M81|Q9NZK3	Splice_Site	SNP	ENST00000168977.2	37	c.502_splice	CCDS12115.1																																																																																				0.617	NMRK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457492.1	NM_014446, NM_170678	Silent	24	37	0	0	0	1	0	24	37				
COMMD5	28991	broad.mit.edu	37	8	146076216	146076216	+	Missense_Mutation	SNP	G	G	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr8:146076216G>A	ENST00000305103.3	-	2	760	c.508C>T	c.(508-510)Cgc>Tgc	p.R170C	AF235103.1_ENST00000578937.1_RNA|COMMD5_ENST00000402718.3_Missense_Mutation_p.R170C|COMMD5_ENST00000450361.2_Missense_Mutation_p.R170C	NM_014066.3	NP_054785.2	Q9GZQ3	COMD5_HUMAN	COMM domain containing 5	170	COMM. {ECO:0000255|PROSITE- ProRule:PRU00602}.					nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|ovary(1)|pancreas(1)	11	all_cancers(97;1.14e-11)|all_epithelial(106;7.74e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)			TGCAGGGAGCGAGCCAGGGCA	0.617																																						ENST00000450361.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|ovary(1)|pancreas(1)	11						c.(508-510)Cgc>Tgc		COMM domain containing 5							32.0	31.0	31.0					8																	146076216		2203	4300	6503	SO:0001583	missense	28991					nucleus	protein binding	g.chr8:146076216G>A	AK023070	CCDS6436.1	8q24.3	2006-11-06				ENSG00000170619			17902	protein-coding gene	gene with protein product		608216				15799966, 10918053	Standard	NM_014066		Approved	HT002, FLJ13008, HCaRG	uc003zem.3	Q9GZQ3		ENST00000305103.3:c.508C>T	8.37:g.146076216G>A	ENSP00000304544:p.Arg170Cys					COMMD5_ENST00000402718.3_Missense_Mutation_p.R170C|COMMD5_ENST00000305103.3_Missense_Mutation_p.R170C	p.R170C	NM_001081003.1	NP_001074472.1	Q9GZQ3	COMD5_HUMAN	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)		2	929	-	all_cancers(97;1.14e-11)|all_epithelial(106;7.74e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		170			COMM.		D3DWN7|Q9NVN6|Q9UHX5	Missense_Mutation	SNP	ENST00000305103.3	37	c.508C>T	CCDS6436.1	.	.	.	.	.	.	.	.	.	.	G	18.51	3.639344	0.67244	.	.	ENSG00000170619	ENST00000402718;ENST00000450361;ENST00000305103;ENST00000529143;ENST00000533270	T;T;T;T;T	0.11063	2.81;2.81;2.81;2.81;2.81	4.18	4.18	0.49190	COMM domain (1);	0.000000	0.85682	D	0.000000	T	0.31670	0.0804	M	0.78049	2.395	0.58432	D	0.999994	D	0.89917	1.0	D	0.73380	0.98	T	0.05178	-1.0901	10	0.87932	D	0	-14.9027	12.2147	0.54400	0.0:0.0:1.0:0.0	.	170	Q9GZQ3	COMD5_HUMAN	C	170	ENSP00000385793:R170C;ENSP00000394331:R170C;ENSP00000304544:R170C;ENSP00000435552:R170C;ENSP00000433758:R170C	ENSP00000304544:R170C	R	-	1	0	COMMD5	146047020	1.000000	0.71417	0.645000	0.29479	0.956000	0.61745	2.183000	0.42565	2.320000	0.78422	0.557000	0.71058	CGC		0.617	COMMD5-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000382962.1	NM_014066		11	26	0	0	0	1	0	11	26				
PCSK7	9159	broad.mit.edu	37	11	117100339	117100339	+	Silent	SNP	C	C	T	rs201300694		TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr11:117100339C>T	ENST00000320934.3	-	3	852	c.222G>A	c.(220-222)gcG>gcA	p.A74A		NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	74					peptide hormone processing (GO:0016486)|protein processing (GO:0016485)	integral component of Golgi membrane (GO:0030173)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		CCAAGGCATCCGCCTGCTGCT	0.672			T	IGH@	MLCLS								C|||	1	0.000199681	0.0	0.0014	5008	,	,		18477	0.0		0.0	False		,,,				2504	0.0					ENST00000320934.3				Dom	yes		11	11q23.3	9159	T	proprotein convertase subtilisin/kexin type 7			L	IGH@		MLCLS		0				NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16						c.(220-222)gcG>gcA		proprotein convertase subtilisin/kexin type 7		C		0,4402		0,0,2201	47.0	50.0	49.0		222	-0.2	0.7	11		49	2,8590	2.2+/-6.3	0,2,4294	no	coding-synonymous	PCSK7	NM_004716.2		0,2,6495	TT,TC,CC		0.0233,0.0,0.0154		74/786	117100339	2,12992	2201	4296	6497	SO:0001819	synonymous_variant	9159				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity	g.chr11:117100339C>T	U40623	CCDS8382.1	11q23-q24	2008-02-01			ENSG00000160613	ENSG00000160613			8748	protein-coding gene	gene with protein product		604872				8615762, 9820811	Standard	XM_006718938		Approved	PC7, PC8, LPC, SPC7	uc001pqr.3	Q16549	OTTHUMG00000165640	ENST00000320934.3:c.222G>A	11.37:g.117100339C>T							p.A74A	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)	3	852	-	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	74					B0YJ60|Q3C1X1|Q53GM4|Q96FK8|Q9UL57	Silent	SNP	ENST00000320934.3	37	c.222G>A	CCDS8382.1																																																																																				0.672	PCSK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385529.2	NM_004716		6	56	0	0	0	1	0	6	56				
ANK1	286	broad.mit.edu	37	8	41550658	41550658	+	Silent	SNP	G	G	A	rs186020985		TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr8:41550658G>A	ENST00000347528.4	-	30	3677	c.3594C>T	c.(3592-3594)aaC>aaT	p.N1198N	ANK1_ENST00000265709.8_Silent_p.N1239N|ANK1_ENST00000379758.2_Silent_p.N1198N|ANK1_ENST00000396945.1_Silent_p.N1198N|ANK1_ENST00000352337.4_Silent_p.N1198N|ANK1_ENST00000396942.1_Silent_p.N1198N|ANK1_ENST00000289734.7_Silent_p.N1198N	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1198	ZU5 2. {ECO:0000255|PROSITE- ProRule:PRU00485}.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TGGCGCACTCGTTGGCATATA	0.567													G|||	1	0.000199681	0.0	0.0	5008	,	,		20755	0.001		0.0	False		,,,				2504	0.0					ENST00000396942.1																			0				breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122						c.(3592-3594)aaC>aaT		ankyrin 1, erythrocytic		G	,,,,	2,4404	4.2+/-10.8	0,2,2201	367.0	286.0	313.0		3594,3717,3594,3594,3594	-4.1	0.9	8		313	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ANK1	NM_000037.3,NM_001142446.1,NM_020475.2,NM_020476.2,NM_020477.2	,,,,	0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231	,,,,	1198/1881,1239/1898,1198/1857,1198/1882,1198/1720	41550658	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41550658G>A	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.3594C>T	8.37:g.41550658G>A						ANK1_ENST00000352337.4_Silent_p.N1198N|ANK1_ENST00000396945.1_Silent_p.N1198N|ANK1_ENST00000379758.2_Silent_p.N1198N|ANK1_ENST00000347528.4_Silent_p.N1198N|ANK1_ENST00000265709.8_Silent_p.N1239N|ANK1_ENST00000289734.7_Silent_p.N1198N	p.N1198N			P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		30	3677	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	1198					A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Silent	SNP	ENST00000347528.4	37	c.3594C>T	CCDS6119.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	6.835	0.523250	0.13066	4.54E-4	1.16E-4	ENSG00000029534	ENST00000520299	.	.	.	4.94	-4.14	0.03892	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.7746	0.46342	0.6258:0.0:0.2824:0.0917	.	.	.	.	X	520	.	.	R	-	1	2	ANK1	41669815	0.000000	0.05858	0.909000	0.35828	0.843000	0.47879	-2.920000	0.00694	-0.924000	0.03780	-0.444000	0.05651	CGA		0.567	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		40	139	0	0	0	1	0	40	139				
OR10Q1	219960	broad.mit.edu	37	11	57995715	57995715	+	Silent	SNP	C	C	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr11:57995715C>A	ENST00000316770.2	-	1	675	c.633G>T	c.(631-633)gtG>gtT	p.V211V		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	211						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				GGATGGTCAGCACGAGGATGC	0.622																																						ENST00000316770.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35						c.(631-633)gtG>gtT		olfactory receptor, family 10, subfamily Q, member 1							79.0	67.0	71.0					11																	57995715		2201	4295	6496	SO:0001819	synonymous_variant	219960				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57995715C>A	AB065735	CCDS31547.1	11q12.1	2012-08-09			ENSG00000180475	ENSG00000180475		"""GPCR / Class A : Olfactory receptors"""	15134	protein-coding gene	gene with protein product							Standard	NM_001004471		Approved		uc010rkd.2	Q8NGQ4	OTTHUMG00000167542	ENST00000316770.2:c.633G>T	11.37:g.57995715C>A							p.V211V	NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN			1	675	-		Breast(21;0.0589)	211					Q6IFG4	Silent	SNP	ENST00000316770.2	37	c.633G>T	CCDS31547.1																																																																																				0.622	OR10Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394706.1	NM_001004471		7	42	1	0	0.0381472	1	0.0384227	7	42				
GRM1	2911	broad.mit.edu	37	6	146755545	146755545	+	Silent	SNP	C	C	T	rs575610612		TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr6:146755545C>T	ENST00000282753.1	+	8	3433	c.3198C>T	c.(3196-3198)taC>taT	p.Y1066Y	GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000361719.2_Silent_p.Y1066Y|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000492807.2_3'UTR			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	1066					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		GGTCCCTGTACCCGCCCCCGC	0.692													C|||	1	0.000199681	0.0	0.0	5008	,	,		13192	0.001		0.0	False		,,,				2504	0.0					ENST00000361719.2																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(3196-3198)taC>taT		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						22.0	27.0	25.0					6																	146755545		2196	4286	6482	SO:0001819	synonymous_variant	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146755545C>T	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.3198C>T	6.37:g.146755545C>T						GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000282753.1_Silent_p.Y1066Y|GRM1_ENST00000355289.4_3'UTR	p.Y1066Y	NM_001278064.1	NP_001264993.1	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	9	3668	+		Ovarian(120;0.0387)	1066					B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Silent	SNP	ENST00000282753.1	37	c.3198C>T	CCDS5209.1																																																																																				0.692	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		16	58	0	0	0	1	0	16	58				
RYR3	6263	broad.mit.edu	37	15	34072457	34072457	+	Silent	SNP	C	C	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr15:34072457C>T	ENST00000389232.4	+	65	9253	c.9183C>T	c.(9181-9183)gcC>gcT	p.A3061A	RYR3_ENST00000415757.3_Silent_p.A3061A	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3061					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGGCAGCTGCCATACCAGTGG	0.567																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(9181-9183)gcC>gcT		ryanodine receptor 3							53.0	55.0	55.0					15																	34072457		1944	4154	6098	SO:0001819	synonymous_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34072457C>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.9183C>T	15.37:g.34072457C>T						RYR3_ENST00000415757.3_Silent_p.A3061A	p.A3061A	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	65	9253	+		all_lung(180;7.18e-09)	3061					O15175|Q15412	Silent	SNP	ENST00000389232.4	37	c.9183C>T	CCDS45210.1																																																																																				0.567	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			13	33	0	0	0	1	0	13	33				
MEF2C	4208	broad.mit.edu	37	5	88056904	88056904	+	Intron	SNP	G	G	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr5:88056904G>A	ENST00000437473.2	-	4	820				MEF2C_ENST00000503554.1_Intron|MEF2C_ENST00000340208.5_Silent_p.P119P|MEF2C_ENST00000514015.1_Intron|MEF2C_ENST00000508569.1_Intron|MEF2C_ENST00000510942.1_Intron|MEF2C_ENST00000506554.1_Intron|MEF2C_ENST00000424173.2_Silent_p.P99P|MEF2C_ENST00000504921.2_Intron|MEF2C_ENST00000539796.1_Intron|MEF2C_ENST00000514028.1_Intron	NM_001193350.1|NM_002397.4	NP_001180279.1|NP_002388.2	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C						apoptotic process (GO:0006915)|B cell homeostasis (GO:0001782)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac ventricle formation (GO:0003211)|cartilage morphogenesis (GO:0060536)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to fluid shear stress (GO:0071498)|cellular response to glucose stimulus (GO:0071333)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to trichostatin A (GO:0035984)|chondrocyte differentiation (GO:0002062)|dentate gyrus development (GO:0021542)|embryonic viscerocranium morphogenesis (GO:0048703)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|germinal center formation (GO:0002467)|glomerulus morphogenesis (GO:0072102)|heart development (GO:0007507)|heart looping (GO:0001947)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|MAPK cascade (GO:0000165)|melanocyte differentiation (GO:0030318)|monocyte differentiation (GO:0030224)|muscle cell differentiation (GO:0042692)|muscle cell fate determination (GO:0007521)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myotube differentiation (GO:0014902)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nephron tubule epithelial cell differentiation (GO:0072160)|nervous system development (GO:0007399)|neural crest cell differentiation (GO:0014033)|neuron development (GO:0048666)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoblast differentiation (GO:0001649)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|platelet formation (GO:0030220)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primary heart field specification (GO:0003138)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of dendritic spine development (GO:0060998)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of germinal center formation (GO:0002634)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron apoptotic process (GO:0043523)|regulation of neurotransmitter secretion (GO:0046928)|regulation of sarcomere organization (GO:0060297)|regulation of synapse assembly (GO:0051963)|regulation of synaptic activity (GO:0060025)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|renal tubule morphogenesis (GO:0061333)|response to ischemia (GO:0002931)|response to virus (GO:0009615)|response to vitamin E (GO:0033197)|secondary heart field specification (GO:0003139)|sinoatrial valve morphogenesis (GO:0003185)|skeletal muscle tissue development (GO:0007519)|smooth muscle cell differentiation (GO:0051145)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|sarcomere (GO:0030017)	activating transcription factor binding (GO:0033613)|AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|miRNA binding (GO:0035198)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		AGTCGGGATCGGGGCTTTCAC	0.373										HNSCC(66;0.2)																												ENST00000340208.5																			0				breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40						c.(355-357)ccC>ccT		myocyte enhancer factor 2C							198.0	189.0	192.0					5																	88056904		1568	3582	5150	SO:0001627	intron_variant	4208				apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr5:88056904G>A	AL833268	CCDS47244.1, CCDS47245.1, CCDS54877.1, CCDS54878.1	5q14.3	2013-07-03	2007-04-24		ENSG00000081189	ENSG00000081189		"""Myocyte enhancer factors"""	6996	protein-coding gene	gene with protein product		600662				8455629	Standard	NM_002397		Approved		uc003kjl.3	Q06413	OTTHUMG00000162634	ENST00000437473.2:c.402+97C>T	5.37:g.88056904G>A		HNSCC(66;0.2)				MEF2C_ENST00000514015.1_Intron|MEF2C_ENST00000503554.1_Intron|MEF2C_ENST00000539796.1_Intron|MEF2C_ENST00000506554.1_Intron|MEF2C_ENST00000510942.1_Intron|MEF2C_ENST00000514028.1_Intron|MEF2C_ENST00000437473.2_Intron|MEF2C_ENST00000508569.1_Intron|MEF2C_ENST00000424173.2_Silent_p.P99P|MEF2C_ENST00000504921.2_Intron	p.P119P	NM_001193347.1	NP_001180276.1	Q06413	MEF2C_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)	6	762	-		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)	101					C9JMZ0|D7F7N5|F8W7V7	Silent	SNP	ENST00000437473.2	37	c.357C>T	CCDS47245.1																																																																																				0.373	MEF2C-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000369817.1	NM_002397		26	35	0	0	0	1	0	26	35				
CDR2	1039	broad.mit.edu	37	16	22358367	22358367	+	Silent	SNP	C	C	T	rs529904009		TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr16:22358367C>T	ENST00000268383.2	-	5	1591	c.1284G>A	c.(1282-1284)gaG>gaA	p.E428E		NM_001802.1	NP_001793.1	Q01850	CDR2_HUMAN	cerebellar degeneration-related protein 2, 62kDa	428						cytoplasm (GO:0005737)				endometrium(3)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(48;0.0188)		AACTAAAGATCTCCTTAAACA	0.458													C|||	1	0.000199681	0.0	0.0	5008	,	,		22531	0.0		0.001	False		,,,				2504	0.0					ENST00000268383.2																			0				endometrium(3)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11						c.(1282-1284)gaG>gaA		cerebellar degeneration-related protein 2, 62kDa							174.0	159.0	164.0					16																	22358367		2197	4300	6497	SO:0001819	synonymous_variant	1039					nucleus	protein binding	g.chr16:22358367C>T	M63256	CCDS32404.1	16p13.1-p12	2008-02-05	2002-08-29			ENSG00000140743			1799	protein-coding gene	gene with protein product	"""Yo paraneoplastic antigen"""	117340	"""cerebellar degeneration-related protein (62kD)"""			2014264	Standard	NM_001802		Approved	CDR62, Yo	uc002dkn.3	Q01850		ENST00000268383.2:c.1284G>A	16.37:g.22358367C>T							p.E428E	NM_001802.1	NP_001793.1	Q01850	CDR2_HUMAN		GBM - Glioblastoma multiforme(48;0.0188)	5	1591	-			428					A8K8A8|Q13977	Silent	SNP	ENST00000268383.2	37	c.1284G>A	CCDS32404.1																																																																																				0.458	CDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430081.1			38	72	0	0	0	1	0	38	72				
TP53	7157	broad.mit.edu	37	17	7578271	7578271	+	Missense_Mutation	SNP	T	T	G			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr17:7578271T>G	ENST00000269305.4	-	6	767	c.578A>C	c.(577-579)cAt>cCt	p.H193P	TP53_ENST00000420246.2_Missense_Mutation_p.H193P|TP53_ENST00000413465.2_Missense_Mutation_p.H193P|TP53_ENST00000455263.2_Missense_Mutation_p.H193P|TP53_ENST00000359597.4_Missense_Mutation_p.H193P|TP53_ENST00000445888.2_Missense_Mutation_p.H193P|TP53_ENST00000574684.1_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	193	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7887414}.|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.H193R(80)|p.H193L(42)|p.H193P(18)|p.0?(8)|p.?(6)|p.H61R(4)|p.H100R(4)|p.H100L(4)|p.H61L(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.H193fs*16(3)|p.P191fs*53(2)|p.H61P(2)|p.H100P(2)|p.A189fs*53(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P98_E105>Q(1)|p.H193_I195>AP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TCGGATAAGATGCTGAGGAGG	0.562		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		193	Substitution - Missense(160)|Whole gene deletion(8)|Complex - deletion inframe(6)|Unknown(6)|Deletion - In frame(5)|Deletion - Frameshift(4)|Insertion - Frameshift(3)|Complex - frameshift(1)	p.H193R(80)|p.H193L(42)|p.H193P(18)|p.0?(8)|p.?(6)|p.H61R(4)|p.H100R(4)|p.H100L(4)|p.H61L(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.H193fs*16(3)|p.P191fs*53(2)|p.H61P(2)|p.H100P(2)|p.A189fs*53(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P98_E105>Q(1)|p.H193_I195>AP(1)	lung(36)|upper_aerodigestive_tract(26)|ovary(20)|breast(18)|oesophagus(14)|haematopoietic_and_lymphoid_tissue(12)|endometrium(12)|biliary_tract(10)|liver(9)|stomach(7)|central_nervous_system(6)|large_intestine(6)|urinary_tract(5)|skin(5)|bone(4)|pancreas(2)|prostate(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM083194|CM951225	TP53	M		c.(577-579)cAt>cCt	Other conserved DNA damage response genes	tumor protein p53							97.0	87.0	90.0					17																	7578271		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578271T>G	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.578A>C	17.37:g.7578271T>G	ENSP00000269305:p.His193Pro	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000413465.2_Missense_Mutation_p.H193P|TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.H193P|TP53_ENST00000359597.4_Missense_Mutation_p.H193P|TP53_ENST00000455263.2_Missense_Mutation_p.H193P|TP53_ENST00000445888.2_Missense_Mutation_p.H193P	p.H193P	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	710	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	193		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.578A>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	13.91	2.377907	0.42105	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99855	-7.2;-7.2;-7.2;-7.2;-7.2;-7.2;-7.2;-7.2	5.41	4.33	0.51752	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	M	0.88906	2.99	0.58432	D	0.999998	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.97320	0.9943	10	0.87932	D	0	-29.0766	9.707	0.40222	0.0:0.0827:0.0:0.9173	.	154;193;193;100;193;193;193	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	P	193;193;193;193;193;193;182;100;61;100;61	ENSP00000410739:H193P;ENSP00000352610:H193P;ENSP00000269305:H193P;ENSP00000398846:H193P;ENSP00000391127:H193P;ENSP00000391478:H193P;ENSP00000425104:H61P;ENSP00000423862:H100P	ENSP00000269305:H193P	H	-	2	0	TP53	7518996	1.000000	0.71417	0.814000	0.32528	0.023000	0.10783	7.996000	0.88334	1.001000	0.39076	-0.256000	0.11100	CAT		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		27	34	0	0	0	1	0	27	34				
NPHS2	7827	broad.mit.edu	37	1	179544737	179544737	+	Missense_Mutation	SNP	C	C	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr1:179544737C>A	ENST00000367615.4	-	1	331	c.263G>T	c.(262-264)cGg>cTg	p.R88L	RNU5F-2P_ENST00000516066.1_RNA|NPHS2_ENST00000367616.4_Missense_Mutation_p.R88L	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	88					actin cytoskeleton reorganization (GO:0031532)|excretion (GO:0007588)|metanephric glomerular visceral epithelial cell development (GO:0072249)	cell-cell junction (GO:0005911)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)				NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						TTCCTCGGGCCGCTCGCTCTC	0.652																																						ENST00000367615.4																			0				NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						c.(262-264)cGg>cTg		nephrosis 2, idiopathic, steroid-resistant (podocin)							24.0	25.0	25.0					1																	179544737		2194	4285	6479	SO:0001583	missense	7827				excretion	integral to plasma membrane	protein binding	g.chr1:179544737C>A	AJ279254	CCDS1331.1, CCDS72988.1	1q25-q31	2014-06-27			ENSG00000116218	ENSG00000116218			13394	protein-coding gene	gene with protein product		604766				8589695, 10742096	Standard	XM_005245483		Approved	SRN1, PDCN	uc001gmq.4	Q9NP85	OTTHUMG00000035252	ENST00000367615.4:c.263G>T	1.37:g.179544737C>A	ENSP00000356587:p.Arg88Leu					NPHS2_ENST00000367616.4_Missense_Mutation_p.R88L	p.R88L	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN			1	331	-			88					B1AM32|B1AM33|Q8N6Q5	Missense_Mutation	SNP	ENST00000367615.4	37	c.263G>T	CCDS1331.1	.	.	.	.	.	.	.	.	.	.	C	15.54	2.864668	0.51482	.	.	ENSG00000116218	ENST00000367615;ENST00000367616	D;D	0.99748	-6.62;-6.62	4.1	2.11	0.27256	.	0.526280	0.18429	N	0.141499	D	0.98248	0.9420	L	0.43152	1.355	0.28892	N	0.89381	P;B	0.41748	0.761;0.114	B;B	0.38458	0.274;0.025	D	0.98433	1.0583	10	0.62326	D	0.03	-0.5996	6.1064	0.20075	0.0:0.6892:0.1966:0.1142	.	88;88	Q9NP85-2;Q9NP85	.;PODO_HUMAN	L	88	ENSP00000356587:R88L;ENSP00000356588:R88L	ENSP00000356587:R88L	R	-	2	0	NPHS2	177811360	0.662000	0.27439	0.986000	0.45419	0.768000	0.43524	0.331000	0.19733	0.806000	0.34183	-0.499000	0.04595	CGG		0.652	NPHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085283.1			5	22	1	0	0.00307968	1	0.00317059	5	22				
TAF15	8148	broad.mit.edu	37	17	34165524	34165524	+	Missense_Mutation	SNP	C	C	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr17:34165524C>T	ENST00000588240.1	+	11	995	c.880C>T	c.(880-882)Cct>Tct	p.P294S	TAF15_ENST00000592237.1_Missense_Mutation_p.P203S|TAF15_ENST00000311979.3_Missense_Mutation_p.P291S	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q16514	TAF12_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	0					chromatin organization (GO:0006325)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of RNA biosynthetic process (GO:2001141)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		TGATGACCCTCCTTCAGCTAA	0.408			T	"""TEC, CHN1, ZNF384"""	"""extraskeletal myxoid chondrosarcomas, ALL"""																																	ENST00000588240.1				Dom	yes		17	17q11.1-q11.2	8148	T	"""TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa"""			"""L, M"""	"""TEC, CHN1, ZNF384"""		"""extraskeletal myxoid chondrosarcomas, ALL"""	TAF15/NR4A3(33)	0				lung(1)|ovary(1)|skin(2)|stomach(1)	5						c.(880-882)Cct>Tct		TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa							129.0	120.0	123.0					17																	34165524		2203	4300	6503	SO:0001583	missense	8148				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr17:34165524C>T	U51334	CCDS32623.1, CCDS59279.1	17q11.1-q11.2	2013-02-12	2002-08-29	2001-12-07		ENSG00000270647		"""RNA binding motif (RRM) containing"""	11547	protein-coding gene	gene with protein product		601574	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, N, 68kD (RNA-binding protein 56)"""	TAF2N		8954779, 9795213	Standard	NM_003487		Approved	hTAFII68, RBP56, Npl3	uc002hkd.4	Q92804		ENST00000588240.1:c.880C>T	17.37:g.34165524C>T	ENSP00000466950:p.Pro294Ser					TAF15_ENST00000592237.1_Missense_Mutation_p.P203S|TAF15_ENST00000311979.3_Missense_Mutation_p.P291S	p.P294S	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q92804	RBP56_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)	11	995	+		Ovarian(249;0.17)	294			RRM.		D3DPM5|Q15775|Q5T077	Missense_Mutation	SNP	ENST00000588240.1	37	c.880C>T	CCDS32623.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.869714	0.91587	.	.	ENSG00000172660	ENST00000311979;ENST00000536077	.	.	.	5.84	5.84	0.93424	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	.	.	.	.	T	0.60130	0.2245	N	0.10782	0.045	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.77557	0.99;0.982	T	0.63545	-0.6613	8	0.39692	T	0.17	-3.9841	17.6233	0.88088	0.0:1.0:0.0:0.0	.	294;291	Q92804;Q92804-2	RBP56_HUMAN;.	S	294;97	.	ENSP00000309558:P294S	P	+	1	0	TAF15	31189637	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.461000	0.80834	2.758000	0.94735	0.591000	0.81541	CCT		0.408	TAF15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449134.1	NM_139215		14	166	0	0	0	1	0	14	166				
UNC13A	23025	broad.mit.edu	37	19	17722620	17722620	+	Missense_Mutation	SNP	C	C	G			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr19:17722620C>G	ENST00000519716.2	-	42	4602	c.4603G>C	c.(4603-4605)Gag>Cag	p.E1535Q	UNC13A_ENST00000551649.1_Missense_Mutation_p.E1554Q|UNC13A_ENST00000550896.1_Missense_Mutation_p.E1508Q|CTD-3149D2.3_ENST00000600512.1_RNA|UNC13A_ENST00000252773.7_Missense_Mutation_p.E1535Q|UNC13A_ENST00000552293.1_Missense_Mutation_p.E1529Q|UNC13A_ENST00000428389.2_Missense_Mutation_p.E1623Q	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1535	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.				beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GTGAACAGCTCAACATGGACA	0.542																																						ENST00000428389.2																			0				breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						c.(4867-4869)Gag>Cag		unc-13 homolog A (C. elegans)							141.0	137.0	138.0					19																	17722620		2105	4268	6373	SO:0001583	missense	23025				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr19:17722620C>G	AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.4603G>C	19.37:g.17722620C>G	ENSP00000429562:p.Glu1535Gln					UNC13A_ENST00000519716.2_Missense_Mutation_p.E1535Q|UNC13A_ENST00000551649.1_Missense_Mutation_p.E1554Q|UNC13A_ENST00000552293.1_Missense_Mutation_p.E1529Q|UNC13A_ENST00000550896.1_Missense_Mutation_p.E1508Q|UNC13A_ENST00000252773.7_Missense_Mutation_p.E1535Q	p.E1623Q			Q9UPW8	UN13A_HUMAN			43	4866	-			1535			C2 3.		E5RHY9	Missense_Mutation	SNP	ENST00000519716.2	37	c.4867G>C	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	C	16.29	3.081535	0.55753	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	T;T;T;T;T;T	0.81330	-1.47;-1.48;-1.46;-1.33;-1.31;-1.46	4.75	4.75	0.60458	C2 calcium/lipid-binding domain, CaLB (1);	0.117336	0.56097	U	0.000030	T	0.79839	0.4515	L	0.50333	1.59	0.42471	D	0.992829	P	0.42649	0.786	B	0.44315	0.446	D	0.83394	0.0019	10	0.87932	D	0	-23.5947	15.3216	0.74126	0.0:1.0:0.0:0.0	.	1535	Q9UPW8	UN13A_HUMAN	Q	1535;1623;1535;1554;1529;1508	ENSP00000429562:E1535Q;ENSP00000400409:E1623Q;ENSP00000252773:E1535Q;ENSP00000447236:E1554Q;ENSP00000447572:E1529Q;ENSP00000446831:E1508Q	ENSP00000252773:E1535Q	E	-	1	0	UNC13A	17583620	1.000000	0.71417	0.964000	0.40570	0.069000	0.16628	5.954000	0.70298	2.209000	0.71365	0.549000	0.68633	GAG		0.542	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604		36	60	0	0	0	1	0	36	60				
PGA3	643834	broad.mit.edu	37	11	60971074	60971074	+	Missense_Mutation	SNP	C	C	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr11:60971074C>T	ENST00000325558.6	+	1	223	c.38C>T	c.(37-39)tCt>tTt	p.S13F		NM_001079807.1	NP_001073275.1	P0DJD8	PEPA3_HUMAN	pepsinogen 3, group I (pepsinogen A)	13					digestion (GO:0007586)	extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(1)|lung(1)|ovary(1)|skin(2)	5						GTGGCACTCTCTGAGTGCATC	0.572																																						ENST00000325558.6																			0				endometrium(1)|lung(1)|ovary(1)|skin(2)	5						c.(37-39)tCt>tTt		pepsinogen 3, group I (pepsinogen A)							182.0	141.0	155.0					11																	60971074		2194	4293	6487	SO:0001583	missense	643834							g.chr11:60971074C>T	AL832946	CCDS31574.1	11q13	2006-12-13			ENSG00000229859	ENSG00000229859	3.4.23.1		8885	protein-coding gene	gene with protein product		169710				6300126	Standard	NM_001079807		Approved		uc001nqx.3	P0DJD8	OTTHUMG00000168071	ENST00000325558.6:c.38C>T	11.37:g.60971074C>T	ENSP00000322192:p.Ser13Phe						p.S13F	NM_001079807.1	NP_001073275.1					1	223	+								A8K749|B2R7D6|B7ZW75|P00790|Q7M4R0|Q8N1E3	Missense_Mutation	SNP	ENST00000325558.6	37	c.38C>T	CCDS31574.1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.851633	0.51270	.	.	ENSG00000229859	ENST00000325558;ENST00000439843	T	0.60299	0.2	3.49	2.56	0.30785	.	0.207707	0.19858	U	0.104488	T	0.73345	0.3575	M	0.83012	2.62	0.80722	D	1	D;D	0.60575	0.988;0.976	D;D	0.67548	0.928;0.952	T	0.76788	-0.2830	10	0.66056	D	0.02	.	10.4683	0.44622	0.0:0.8916:0.0:0.1084	.	13;13	E7EUP8;F8WAB4	.;.	F	13	ENSP00000322192:S13F	ENSP00000322192:S13F	S	+	2	0	PGA3	60727650	0.983000	0.35010	0.780000	0.31762	0.029000	0.11900	2.906000	0.48735	1.989000	0.58080	0.552000	0.68991	TCT		0.572	PGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397955.2	NM_001079807		4	74	0	0	0	1	0	4	74				
RNF41	10193	broad.mit.edu	37	12	56600258	56600258	+	Missense_Mutation	SNP	T	T	C			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr12:56600258T>C	ENST00000345093.4	-	7	1296	c.927A>G	c.(925-927)atA>atG	p.I309M	RNF41_ENST00000394013.2_Missense_Mutation_p.I238M|RNF41_ENST00000552656.1_Missense_Mutation_p.I309M	NM_005785.3|NM_194359.2	NP_005776.1|NP_919340.1	Q9H4P4	RNF41_HUMAN	ring finger protein 41, E3 ubiquitin protein ligase	309					extrinsic apoptotic signaling pathway (GO:0097191)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|proteasomal protein catabolic process (GO:0010498)|protein autoubiquitination (GO:0051865)|protein polyubiquitination (GO:0000209)|regulation of establishment of cell polarity (GO:2000114)|regulation of lymphocyte differentiation (GO:0045619)|regulation of MAPK cascade (GO:0043408)|regulation of myeloid cell differentiation (GO:0045637)|regulation of protein kinase B signaling (GO:0051896)|regulation of reactive oxygen species metabolic process (GO:2000377)	cytosol (GO:0005829)	acid-amino acid ligase activity (GO:0016881)|protein tag (GO:0031386)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	11						CATGCGCAAATATCATGACAA	0.532											OREG0021921	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000345093.4																			0				breast(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	11						c.(925-927)atA>atG		ring finger protein 41							192.0	179.0	183.0					12																	56600258		2203	4300	6503	SO:0001583	missense	10193				apoptosis|induction of apoptosis|protein polyubiquitination|regulation of reactive oxygen species metabolic process		protein binding|protein tag|ubiquitin-protein ligase activity|zinc ion binding	g.chr12:56600258T>C	AF077599	CCDS8909.1, CCDS8910.1	12q13.13	2014-03-24	2014-03-24		ENSG00000181852	ENSG00000181852		"""RING-type (C3HC4) zinc fingers"""	18401	protein-coding gene	gene with protein product			"""ring finger protein 41"""				Standard	NM_005785		Approved	SBBI03, NRDP1	uc001skg.2	Q9H4P4	OTTHUMG00000170328	ENST00000345093.4:c.927A>G	12.37:g.56600258T>C	ENSP00000342755:p.Ile309Met		OREG0021921	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1016	RNF41_ENST00000394013.2_Missense_Mutation_p.I238M|RNF41_ENST00000552656.1_Missense_Mutation_p.I309M	p.I309M	NM_005785.3|NM_194359.2	NP_005776.1|NP_919340.1	Q9H4P4	RNF41_HUMAN			7	1296	-			309					A6NFW0|B2RBT8|O75598	Missense_Mutation	SNP	ENST00000345093.4	37	c.927A>G	CCDS8909.1	.	.	.	.	.	.	.	.	.	.	T	19.20	3.782254	0.70222	.	.	ENSG00000181852	ENST00000345093;ENST00000394013;ENST00000448057;ENST00000552656	T;T	0.15487	2.42;2.42	5.21	-0.82	0.10826	USP8 interacting (1);	0.096598	0.64402	D	0.000001	T	0.39279	0.1072	M	0.73598	2.24	0.80722	D	1	D;D	0.67145	0.979;0.996	D;D	0.79108	0.979;0.992	T	0.48317	-0.9046	10	0.87932	D	0	.	15.8719	0.79127	0.0:0.0:0.6773:0.3227	.	296;309	B4E353;Q9H4P4	.;RNF41_HUMAN	M	309;238;296;309	ENSP00000342755:I309M;ENSP00000447303:I309M	ENSP00000342755:I309M	I	-	3	3	RNF41	54886525	0.990000	0.36364	0.999000	0.59377	0.943000	0.58893	0.091000	0.15046	0.005000	0.14708	0.533000	0.62120	ATA		0.532	RNF41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408525.1	NM_005785		36	163	0	0	0	1	0	36	163				
KDM3A	55818	broad.mit.edu	37	2	86684151	86684151	+	Missense_Mutation	SNP	A	A	G			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr2:86684151A>G	ENST00000409556.1	+	9	1165	c.800A>G	c.(799-801)aAt>aGt	p.N267S	KDM3A_ENST00000542128.1_Missense_Mutation_p.N215S|KDM3A_ENST00000312912.5_Missense_Mutation_p.N267S|KDM3A_ENST00000409064.1_Missense_Mutation_p.N267S			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	267					androgen receptor signaling pathway (GO:0030521)|formaldehyde biosynthetic process (GO:0046293)|histone H3-K9 demethylation (GO:0033169)|histone H3-K9 dimethylation (GO:0036123)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of histone H3-K9 methylation (GO:0051573)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|dioxygenase activity (GO:0051213)|iron ion binding (GO:0005506)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						TCTTCTGAGAATAATGGAACC	0.363																																					NSCLC(96;1150 1523 6936 46253 49736)	ENST00000409556.1																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						c.(799-801)aAt>aGt		lysine (K)-specific demethylase 3A							55.0	54.0	54.0					2																	86684151		2203	4300	6503	SO:0001583	missense	55818				androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr2:86684151A>G	AB018285	CCDS1990.1	2p11.2	2011-07-01	2009-04-06	2009-04-06	ENSG00000115548	ENSG00000115548		"""Chromatin-modifying enzymes / K-demethylases"""	20815	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 2A"""	611512	"""jumonji domain containing 1"", ""jumonji domain containing 1A"""	JMJD1, JMJD1A		9872452	Standard	NM_018433		Approved	TSGA, KIAA0742, JHMD2A	uc010ytj.2	Q9Y4C1	OTTHUMG00000130204	ENST00000409556.1:c.800A>G	2.37:g.86684151A>G	ENSP00000386660:p.Asn267Ser					KDM3A_ENST00000409064.1_Missense_Mutation_p.N267S|KDM3A_ENST00000312912.5_Missense_Mutation_p.N267S|KDM3A_ENST00000542128.1_Missense_Mutation_p.N215S	p.N267S			Q9Y4C1	KDM3A_HUMAN			9	1165	+			267					D6W5M3|Q53S72|Q68D47|Q68UT9|Q6N050|Q8IY08	Missense_Mutation	SNP	ENST00000409556.1	37	c.800A>G	CCDS1990.1	.	.	.	.	.	.	.	.	.	.	A	6.739	0.505217	0.12822	.	.	ENSG00000115548	ENST00000409556;ENST00000540058;ENST00000312912;ENST00000409064;ENST00000542128	T;T;T;T	0.59638	0.25;0.25;0.25;0.26	5.52	3.13	0.36017	.	0.276445	0.36665	N	0.002472	T	0.43010	0.1228	L	0.51422	1.61	0.28722	N	0.902972	B;B	0.20052	0.041;0.0	B;B	0.14578	0.011;0.001	T	0.33879	-0.9851	10	0.07644	T	0.81	.	7.2382	0.26082	0.8223:0.0:0.1777:0.0	.	215;267	F5H070;Q9Y4C1	.;KDM3A_HUMAN	S	267;267;267;267;215	ENSP00000386660:N267S;ENSP00000323659:N267S;ENSP00000386516:N267S;ENSP00000438324:N215S	ENSP00000323659:N267S	N	+	2	0	KDM3A	86537662	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	1.926000	0.40084	0.377000	0.24735	-0.411000	0.06167	AAT		0.363	KDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252522.2	NM_018433		21	54	0	0	0	1	0	21	54				
FMN2	56776	broad.mit.edu	37	1	240458175	240458175	+	Missense_Mutation	SNP	T	T	C			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr1:240458175T>C	ENST00000319653.9	+	8	4437	c.4207T>C	c.(4207-4209)Tat>Cat	p.Y1403H	FMN2_ENST00000545751.1_Intron	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1403	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TCAAGCTCTCTATGAGAATGT	0.368																																						ENST00000319653.9																			0				NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(4207-4209)Tat>Cat		formin 2							125.0	126.0	126.0					1																	240458175		2203	4300	6503	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240458175T>C	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.4207T>C	1.37:g.240458175T>C	ENSP00000318884:p.Tyr1403His					FMN2_ENST00000545751.1_Intron	p.Y1403H	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		8	4437	+	Ovarian(103;0.127)	all_cancers(173;0.013)	1403			FH2.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.4207T>C	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	T	14.78	2.637596	0.47049	.	.	ENSG00000155816	ENST00000319653;ENST00000441342;ENST00000537355	T;T	0.17370	2.28;2.28	5.27	5.27	0.74061	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.111616	0.40064	N	0.001187	T	0.39279	0.1072	M	0.64676	1.99	0.80722	D	1	B;D;P	0.89917	0.044;1.0;0.939	B;D;P	0.91635	0.099;0.999;0.907	T	0.18335	-1.0340	10	0.72032	D	0.01	.	14.0505	0.64732	0.0:0.0:0.0:1.0	.	49;32;1403	F5H2C1;B4DN09;Q9NZ56	.;.;FMN2_HUMAN	H	1403;49;30	ENSP00000318884:Y1403H;ENSP00000388922:Y49H	ENSP00000318884:Y1403H	Y	+	1	0	FMN2	238524798	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.548000	0.73896	2.133000	0.65898	0.528000	0.53228	TAT		0.368	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		12	78	0	0	0	1	0	12	78				
SNHG14	104472715	broad.mit.edu	37	15	25324246	25324246	+	RNA	SNP	G	G	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr15:25324246G>A	ENST00000546682.1	+	0	0				SNORD116-14_ENST00000383894.1_RNA|SNORD116-13_ENST00000384408.1_RNA|SNORD116-12_ENST00000384468.1_RNA|SNORD116-15_ENST00000384445.1_RNA|SNHG14_ENST00000549804.2_RNA	NR_003361.1				small nucleolar RNA host gene 14 (non-protein coding)																		TTGGAAAGCTGAACAAAATGA	0.418																																						ENST00000549804.2																			0																				197.0	186.0	189.0					15																	25324246		876	1991	2867			104472715							g.chr15:25324246G>A			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25324246G>A						SNORD116-13_ENST00000384408.1_RNA								0	1377	+									RNA	SNP	ENST00000546682.1	37																																																																																						0.418	SNHG14-022	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000408281.1			49	144	0	0	0	1	0	49	144				
NOLC1	9221	broad.mit.edu	37	10	103919277	103919277	+	Missense_Mutation	SNP	T	T	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr10:103919277T>A	ENST00000605788.1	+	7	1046	c.811T>A	c.(811-813)Tcc>Acc	p.S271T	NOLC1_ENST00000603742.1_5'UTR|NOLC1_ENST00000405356.1_Missense_Mutation_p.S281T|NOLC1_ENST00000488254.2_Missense_Mutation_p.S272T	NM_001284389.1|NM_004741.3	NP_001271318.1|NP_004732.2	Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	271	11 X 12 AA approximate repeats of an acidic serine cluster.|Interacts with RPA194.				cell cycle (GO:0007049)|mitotic nuclear division (GO:0007067)|nucleolus organization (GO:0007000)|rRNA processing (GO:0006364)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		TGAGGATTCCTCCAGTGACGA	0.517																																						ENST00000405356.1																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31						c.(841-843)Tcc>Acc		nucleolar and coiled-body phosphoprotein 1							105.0	115.0	111.0					10																	103919277		2203	4300	6503	SO:0001583	missense	9221				mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding	g.chr10:103919277T>A	Z34289	CCDS7530.1, CCDS65925.1, CCDS65926.1	10q24.32	2008-08-01			ENSG00000166197	ENSG00000166197			15608	protein-coding gene	gene with protein product		602394				7657714, 10567578	Standard	XM_005270273		Approved	P130, KIAA0035, NOPP140, NOPP130	uc001kuo.2	Q14978	OTTHUMG00000018944	ENST00000605788.1:c.811T>A	10.37:g.103919277T>A	ENSP00000474710:p.Ser271Thr					NOLC1_ENST00000605788.1_Missense_Mutation_p.S271T|NOLC1_ENST00000488254.2_Missense_Mutation_p.S272T|NOLC1_ENST00000603742.1_5'UTR	p.S281T			Q14978	NOLC1_HUMAN		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)	7	1076	+		Colorectal(252;0.122)	271			11 X 12 AA approximate repeats of an acidic serine cluster.|Interacts with RPA194.		Q15030|Q5VV70|Q9BUV3	Missense_Mutation	SNP	ENST00000605788.1	37	c.841T>A	CCDS7530.1	.	.	.	.	.	.	.	.	.	.	T	18.02	3.529426	0.64860	.	.	ENSG00000166197	ENST00000405356;ENST00000370007	T	0.57436	0.4	5.97	5.97	0.96955	.	0.000000	0.64402	D	0.000002	T	0.76442	0.3988	M	0.87269	2.87	0.58432	D	0.999993	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.85130	0.997;0.997;0.994	T	0.80148	-0.1503	10	0.59425	D	0.04	-14.2029	15.642	0.77012	0.0:0.0:0.0:1.0	.	272;281;271	Q14978-3;Q14978-2;Q14978	.;.;NOLC1_HUMAN	T	281;271	ENSP00000385410:S281T	ENSP00000359024:S271T	S	+	1	0	NOLC1	103909267	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	4.351000	0.59398	2.288000	0.76882	0.533000	0.62120	TCC		0.517	NOLC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050012.2	NM_004741		8	50	0	0	0	1	0	8	50				
CHST1	8534	broad.mit.edu	37	11	45672336	45672336	+	Silent	SNP	C	C	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr11:45672336C>A	ENST00000308064.2	-	4	808	c.138G>T	c.(136-138)ctG>ctT	p.L46L	CHST1_ENST00000533673.1_5'Flank|RP11-495O11.1_ENST00000525563.1_RNA	NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	46					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|polysaccharide metabolic process (GO:0005976)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	keratan sulfotransferase activity (GO:0045130)|sulfotransferase activity (GO:0008146)			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		TCTCCTCGCACAGTCGCTCGG	0.662																																						ENST00000308064.2																			0				breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42						c.(136-138)ctG>ctT		carbohydrate (keratan sulfate Gal-6) sulfotransferase 1							72.0	70.0	71.0					11																	45672336		2203	4299	6502	SO:0001819	synonymous_variant	8534				galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity	g.chr11:45672336C>A	U65637	CCDS7913.1	11p11.2	2010-04-29			ENSG00000175264	ENSG00000175264		"""Sulfotransferases, membrane-bound"""	1969	protein-coding gene	gene with protein product		603797				9405439, 9639683	Standard	NM_003654		Approved	C6ST, KSGal6ST	uc001mys.2	O43916		ENST00000308064.2:c.138G>T	11.37:g.45672336C>A							p.L46L	NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN		GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)	4	808	-			46					D3DQP2	Silent	SNP	ENST00000308064.2	37	c.138G>T	CCDS7913.1																																																																																				0.662	CHST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390127.1	NM_003654		17	51	1	0	0.000132079	1	0.000139057	17	51				
BRICD5	283870	broad.mit.edu	37	16	2259480	2259480	+	Missense_Mutation	SNP	C	C	G	rs199992378	byFrequency	TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr16:2259480C>G	ENST00000562360.1	-	5	665	c.666G>C	c.(664-666)gaG>gaC	p.E222D	RP11-304L19.8_ENST00000561544.1_lincRNA|BRICD5_ENST00000328540.3_Intron			Q6PL45	BRID5_HUMAN	BRICHOS domain containing 5	222						integral component of membrane (GO:0016021)											TGCCGTGAATCTCCAAGGGCT	0.637																																						ENST00000562360.1																			0											c.(664-666)gaG>gaC		BRICHOS domain containing 5							50.0	54.0	53.0					16																	2259480		2198	4300	6498	SO:0001583	missense	283870							g.chr16:2259480C>G	BC039154	CCDS10463.1	16p13.3	2012-10-10	2012-10-10	2012-10-10	ENSG00000182685	ENSG00000182685		"""BRICHOS domain containing"""	28309	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 79"""	C16orf79		12477932	Standard	NM_182563		Approved	MGC21830	uc002cpi.2	Q6PL45	OTTHUMG00000128831	ENST00000562360.1:c.666G>C	16.37:g.2259480C>G	ENSP00000455052:p.Glu222Asp					BRICD5_ENST00000328540.3_Intron	p.E222D							5	665	-								C9J7K2|Q8IXU9	Missense_Mutation	SNP	ENST00000562360.1	37	c.666G>C	CCDS10463.1																																																																																				0.637	BRICD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000435091.1	NM_182563		21	59	0	0	0	1	0	21	59				
TNRC18	84629	broad.mit.edu	37	7	5410492	5410492	+	Silent	SNP	G	G	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr7:5410492G>A	ENST00000430969.1	-	11	4081	c.3733C>T	c.(3733-3735)Ctg>Ttg	p.L1245L	TNRC18_ENST00000399537.4_Silent_p.L1245L	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1245							chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		TGCACCCCCAGGTCCAGGGCG	0.692																																						ENST00000399537.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11						c.(3733-3735)Ctg>Ttg		trinucleotide repeat containing 18							14.0	18.0	17.0					7																	5410492		1963	4154	6117	SO:0001819	synonymous_variant	84629						DNA binding	g.chr7:5410492G>A	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.3733C>T	7.37:g.5410492G>A						TNRC18_ENST00000430969.1_Silent_p.L1245L	p.L1245L			O15417	TNC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	11	4081	-		Ovarian(82;0.142)	1245					A8MX41|Q96JH1|Q96K91	Silent	SNP	ENST00000430969.1	37	c.3733C>T	CCDS47534.1																																																																																				0.692	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				14	22	0	0	0	1	0	14	22				
ANKRD6	22881	broad.mit.edu	37	6	90331647	90331647	+	Missense_Mutation	SNP	C	C	T	rs569364324		TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr6:90331647C>T	ENST00000522441.1	+	10	1440	c.799C>T	c.(799-801)Cgc>Tgc	p.R267C	ANKRD6_ENST00000369408.5_Intron|ANKRD6_ENST00000447838.2_Missense_Mutation_p.R267C|LYRM2_ENST00000520441.1_Missense_Mutation_p.R75H|ANKRD6_ENST00000339746.4_Missense_Mutation_p.R267C|ANKRD6_ENST00000520793.1_Missense_Mutation_p.R208C	NM_001242811.1	NP_001229740.1	Q9Y2G4	ANKR6_HUMAN	ankyrin repeat domain 6	267					negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of JNK cascade (GO:0046330)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		TCAGGTCTTGCGCTTCAGTCG	0.542													C|||	1	0.000199681	0.0	0.0	5008	,	,		21043	0.001		0.0	False		,,,				2504	0.0					ENST00000522441.1																			0				NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21						c.(799-801)Cgc>Tgc		ankyrin repeat domain 6							54.0	59.0	57.0					6																	90331647		2008	4171	6179	SO:0001583	missense	22881						protein binding	g.chr6:90331647C>T	AB023174	CCDS47460.1, CCDS56441.1, CCDS56442.1, CCDS56443.1	6q14.2-q16.1	2013-03-20			ENSG00000135299	ENSG00000135299		"""Ankyrin repeat domain containing"""	17280	protein-coding gene	gene with protein product		610583					Standard	NM_001242809		Approved	KIAA0957	uc003pni.4	Q9Y2G4	OTTHUMG00000015202	ENST00000522441.1:c.799C>T	6.37:g.90331647C>T	ENSP00000430985:p.Arg267Cys					ANKRD6_ENST00000520793.1_Missense_Mutation_p.R208C|ANKRD6_ENST00000339746.4_Missense_Mutation_p.R267C|ANKRD6_ENST00000369408.5_Intron|ANKRD6_ENST00000447838.2_Missense_Mutation_p.R267C|LYRM2_ENST00000520441.1_Missense_Mutation_p.R75H	p.R267C	NM_001242811.1	NP_001229740.1	Q9Y2G4	ANKR6_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0209)	10	1440	+		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)	267					B3KUC3|Q5JUJ4|Q5JUJ5|Q8IUQ8|Q9NU24|Q9UFQ9	Missense_Mutation	SNP	ENST00000522441.1	37	c.799C>T	CCDS56441.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.2|25.2	4.616091|4.616091	0.87359|0.87359	.|.	.|.	ENSG00000135299|ENSG00000083099	ENST00000339746;ENST00000447838;ENST00000522441;ENST00000520793|ENST00000520441	T;T;T;T|T	0.70045|0.26957	1.03;1.03;1.03;-0.45|1.7	5.9|5.9	5.9|5.9	0.94986|0.94986	.|.	0.099895|0.099895	0.44902|0.44902	D|N	0.000404|0.000404	T|T	0.30603|0.30603	0.0770|0.0770	L|L	0.45352|0.45352	1.415|1.415	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.999;1.0;1.0|.	P;D;D|.	0.91635|.	0.642;0.999;0.98|.	T|T	0.00419|0.00419	-1.1751|-1.1751	10|8	0.87932|0.42905	D|T	0|0.14	-13.0488|-13.0488	20.2789|20.2789	0.98501|0.98501	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	208;267;267|.	B3KUC3;Q9Y2G4;C9JJE8|.	.;ANKR6_HUMAN;.|.	C|H	267;267;267;208|75	ENSP00000345767:R267C;ENSP00000396771:R267C;ENSP00000430985:R267C;ENSP00000429782:R208C|ENSP00000427859:R75H	ENSP00000345767:R267C|ENSP00000427859:R75H	R|R	+|-	1|2	0|0	ANKRD6|LYRM2	90388368|90388368	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.969000|0.969000	0.65631|0.65631	4.750000|4.750000	0.62162|0.62162	2.788000|2.788000	0.95919|0.95919	0.650000|0.650000	0.86243|0.86243	CGC|CGC		0.542	ANKRD6-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376594.1			24	21	0	0	0	1	0	24	21				
VNN2	8875	broad.mit.edu	37	6	133078596	133078596	+	Silent	SNP	T	T	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr6:133078596T>A	ENST00000326499.6	-	2	427	c.303A>T	c.(301-303)ccA>ccT	p.P101P	VNN2_ENST00000525270.1_Silent_p.P48P|VNN2_ENST00000526192.1_5'UTR|VNN2_ENST00000525289.1_Silent_p.P101P	NM_004665.2	NP_004656	O95498	VNN2_HUMAN	vanin 2	101	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				cellular component movement (GO:0006928)|pantothenate metabolic process (GO:0015939)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	pantetheine hydrolase activity (GO:0017159)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		CCTGAGGGTCTGGGATATCCT	0.433																																						ENST00000326499.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(301-303)ccA>ccT		vanin 2							86.0	89.0	88.0					6																	133078596		2203	4300	6503	SO:0001819	synonymous_variant	8875				cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity	g.chr6:133078596T>A	AB026705	CCDS5161.1, CCDS5162.1, CCDS56451.1	6q23-q24	2013-02-13			ENSG00000112303	ENSG00000112303	3.5.1.92	"""Vanins"""	12706	protein-coding gene	gene with protein product	"""pantetheinase"""	603571				9790769, 11491533	Standard	NM_078488		Approved	FOAP-4, GPI-80	uc003qdt.3	O95498	OTTHUMG00000015588	ENST00000326499.6:c.303A>T	6.37:g.133078596T>A						VNN2_ENST00000525289.1_Silent_p.P101P|VNN2_ENST00000526192.1_5'UTR|VNN2_ENST00000525270.1_Silent_p.P48P	p.P101P	NM_004665.2	NP_004656.2	O95498	VNN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)	2	427	-			101			CN hydrolase.		A0AUZ3|A6NDY1|A8K4E3|A8K7W0|B2DFZ0|B2DFZ1|B2DFZ2|B2DFZ3|F6XL73|Q2XUN1|Q9UJF3|Q9UMW2	Silent	SNP	ENST00000326499.6	37	c.303A>T	CCDS5161.1																																																																																				0.433	VNN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042264.2			25	54	0	0	0	1	0	25	54				
GTSE1	51512	broad.mit.edu	37	22	46722505	46722505	+	Missense_Mutation	SNP	C	C	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr22:46722505C>T	ENST00000454366.1	+	9	1890	c.1678C>T	c.(1678-1680)Cca>Tca	p.P560S		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	541					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|microtubule-based process (GO:0007017)	cytoplasmic microtubule (GO:0005881)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		CCTGTGTGTGCCAGCTCGGAG	0.597																																					GBM(153;542 1915 12487 29016 50495)	ENST00000454366.1																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27						c.(1678-1680)Cca>Tca		G-2 and S-phase expressed 1							58.0	53.0	55.0					22																	46722505		2203	4300	6503	SO:0001583	missense	51512				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule		g.chr22:46722505C>T	AF223408	CCDS14074.2	22q13.2-q13.3	2008-06-10			ENSG00000075218	ENSG00000075218			13698	protein-coding gene	gene with protein product		607477				10974554, 10984615, 12750368	Standard	NM_016426		Approved	GTSE-1, B99	uc011aqy.2	Q9NYZ3	OTTHUMG00000150486	ENST00000454366.1:c.1678C>T	22.37:g.46722505C>T	ENSP00000415430:p.Pro560Ser						p.P560S	NM_016426.6	NP_057510.4	Q9NYZ3	GTSE1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)	9	1890	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	541					B0QYM3|Q20WK2|Q53GX5|Q5R3I6|Q6DHX4|Q9BRE0|Q9UGZ9|Q9Y557	Missense_Mutation	SNP	ENST00000454366.1	37	c.1678C>T	CCDS14074.2	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.600466	0.00849	.	.	ENSG00000075218	ENST00000454366;ENST00000361934	T	0.06294	3.32	4.5	-2.14	0.07123	.	1.053280	0.07320	N	0.877343	T	0.01940	0.0061	N	0.02368	-0.58	0.09310	N	1	B;B	0.22541	0.041;0.071	B;B	0.28011	0.012;0.085	T	0.44620	-0.9316	10	0.02654	T	1	-5.0077	2.5398	0.04722	0.1486:0.4204:0.2947:0.1362	.	541;520	Q9NYZ3;B4DZT6	GTSE1_HUMAN;.	S	560;520	ENSP00000415430:P560S	ENSP00000354634:P520S	P	+	1	0	GTSE1	45101169	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-1.014000	0.03641	-0.097000	0.12307	-0.479000	0.04858	CCA		0.597	GTSE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318360.2	NM_016426		13	57	0	0	0	1	0	13	57				
HELB	92797	broad.mit.edu	37	12	66731855	66731855	+	Missense_Mutation	SNP	C	C	G			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr12:66731855C>G	ENST00000247815.4	+	13	3296	c.3237C>G	c.(3235-3237)ttC>ttG	p.F1079L		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	1079					DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication, synthesis of RNA primer (GO:0006269)		ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|single-stranded DNA-dependent ATP-dependent DNA helicase activity (GO:0017116)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		GGCAACTTTTCAAGCCCACCG	0.343																																						ENST00000247815.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40						c.(3235-3237)ttC>ttG		helicase (DNA) B							68.0	71.0	70.0					12																	66731855		2203	4300	6503	SO:0001583	missense	92797				DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity	g.chr12:66731855C>G	AF319995	CCDS8976.1	12q14.2	2009-01-15			ENSG00000127311	ENSG00000127311			17196	protein-coding gene	gene with protein product		614539				12181327	Standard	NM_033647		Approved		uc001sti.3	Q8NG08	OTTHUMG00000169006	ENST00000247815.4:c.3237C>G	12.37:g.66731855C>G	ENSP00000247815:p.Phe1079Leu						p.F1079L	NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)	13	3296	+			1079					A8K4C9|Q4G0T2|Q9H7L5	Missense_Mutation	SNP	ENST00000247815.4	37	c.3237C>G	CCDS8976.1	.	.	.	.	.	.	.	.	.	.	C	15.31	2.794724	0.50102	.	.	ENSG00000127311	ENST00000247815	T	0.17054	2.3	5.5	0.504	0.16946	.	0.000000	0.64402	D	0.000001	T	0.14787	0.0357	M	0.62723	1.935	0.36843	D	0.887516	B	0.25390	0.125	B	0.24848	0.056	T	0.10200	-1.0640	9	.	.	.	-21.4179	6.0111	0.19575	0.1171:0.5618:0.0:0.3211	.	1079	Q8NG08	HELB_HUMAN	L	1079	ENSP00000247815:F1079L	.	F	+	3	2	HELB	65018122	0.204000	0.23447	0.490000	0.27465	0.338000	0.28826	-0.033000	0.12246	-0.191000	0.10448	-0.122000	0.15005	TTC		0.343	HELB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401919.1			14	69	0	0	0	1	0	14	69				
PNCK	139728	broad.mit.edu	37	X	152938024	152938024	+	Missense_Mutation	SNP	C	C	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chrX:152938024C>T	ENST00000370150.1	-	3	375	c.197G>A	c.(196-198)cGt>cAt	p.R66H	PNCK_ENST00000447676.2_Missense_Mutation_p.R149H|PNCK_ENST00000393831.2_Missense_Mutation_p.R66H|PNCK_ENST00000370142.1_Missense_Mutation_p.R66H|PNCK_ENST00000475172.1_5'UTR|PNCK_ENST00000370145.4_Missense_Mutation_p.R83H|PNCK_ENST00000340888.3_Missense_Mutation_p.R66H			Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase	66	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGCGCACCTACGGAGCACTGC	0.677																																						ENST00000393831.2																			0				breast(2)|lung(3)|skin(1)	6						c.(196-198)cGt>cAt		pregnancy up-regulated nonubiquitous CaM kinase							55.0	57.0	56.0					X																	152938024		2203	4300	6503	SO:0001583	missense	139728					cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chrX:152938024C>T	BC033746	CCDS35503.2, CCDS48189.1	Xq28	2013-10-14	2013-10-14		ENSG00000130822	ENSG00000130822			13415	protein-coding gene	gene with protein product		300680	"""pregnancy upregulated non-ubiquitously expressed CaM kinase"", ""pregnancy up-regulated non-ubiquitously expressed CaM kinase"""			12477932	Standard	NM_001039582		Approved	MGC45419, CaMK1b	uc011myu.2	Q6P2M8	OTTHUMG00000024216	ENST00000370150.1:c.197G>A	X.37:g.152938024C>T	ENSP00000359169:p.Arg66His					PNCK_ENST00000447676.2_Missense_Mutation_p.R149H|PNCK_ENST00000475172.1_5'UTR|PNCK_ENST00000370142.1_Missense_Mutation_p.R66H|PNCK_ENST00000370145.4_Missense_Mutation_p.R83H|PNCK_ENST00000370150.1_Missense_Mutation_p.R66H|PNCK_ENST00000340888.3_Missense_Mutation_p.R66H	p.R66H	NM_001039582.3	NP_001034671.3	Q6P2M8	KCC1B_HUMAN			3	631	-	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		66			Protein kinase.		B4DJR8|B4E1A6|B7WPG0|D3DWU7|Q8N4R0	Missense_Mutation	SNP	ENST00000370150.1	37	c.197G>A		.	.	.	.	.	.	.	.	.	.	c	13.57	2.276174	0.40294	.	.	ENSG00000130822	ENST00000340888;ENST00000370150;ENST00000393831;ENST00000370142;ENST00000370145;ENST00000447676;ENST00000439087;ENST00000422811;ENST00000418241;ENST00000434652	T;T;T;T;T;T;T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24;-0.24;-0.24;-0.24;-0.24;-0.24;-0.24	4.41	2.26	0.28386	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.354677	0.18252	N	0.146917	T	0.54208	0.1844	M	0.65677	2.01	0.09310	N	0.999997	B;B;B;B	0.30851	0.297;0.01;0.004;0.004	B;B;B;B	0.17979	0.02;0.004;0.003;0.005	T	0.40739	-0.9547	10	0.28530	T	0.3	.	4.5176	0.11943	0.0:0.4047:0.0:0.5953	.	93;149;83;66	B4DJG4;Q6P2M8-5;B4E1A6;Q6P2M8	.;.;.;KCC1B_HUMAN	H	66;66;66;66;83;149;66;66;66;66	ENSP00000340586:R66H;ENSP00000359169:R66H;ENSP00000377417:R66H;ENSP00000359161:R66H;ENSP00000359164:R83H;ENSP00000405950:R149H;ENSP00000415770:R66H;ENSP00000391772:R66H;ENSP00000411267:R66H;ENSP00000396128:R66H	ENSP00000340586:R66H	R	-	2	0	PNCK	152591218	0.001000	0.12720	0.997000	0.53966	0.448000	0.32197	0.761000	0.26489	0.672000	0.31204	-0.430000	0.05897	CGT		0.677	PNCK-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000061044.2	NM_198452		80	26	0	0	0	1	0	80	26				
CYP7B1	9420	broad.mit.edu	37	8	65517355	65517355	+	Missense_Mutation	SNP	C	C	G			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr8:65517355C>G	ENST00000310193.3	-	5	1290	c.1117G>C	c.(1117-1119)Gag>Cag	p.E373Q	CYP7B1_ENST00000523954.1_5'UTR	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	373					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|cholesterol metabolic process (GO:0008203)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|positive regulation of epithelial cell proliferation (GO:0050679)|prostate gland epithelium morphogenesis (GO:0060740)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	25-hydroxycholesterol 7alpha-hydroxylase activity (GO:0033783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxysterol 7-alpha-hydroxylase activity (GO:0008396)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				AAATCCTCCTCAACAAAACGA	0.438																																						ENST00000310193.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.(1117-1119)Gag>Cag		cytochrome P450, family 7, subfamily B, polypeptide 1							106.0	98.0	100.0					8																	65517355		2203	4300	6503	SO:0001583	missense	9420				bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity	g.chr8:65517355C>G	AF029403	CCDS6180.1	8q21.3	2008-07-04	2003-01-14		ENSG00000172817	ENSG00000172817		"""Cytochrome P450s"""	2652	protein-coding gene	gene with protein product		603711	"""cytochrome P450, subfamily VIIB (oxysterol 7 alpha-hydroxylase), polypeptide 1"", ""spastic paraplegia 5A (autosomal recessive)"""	SPG5A		9802883, 18252231	Standard	NM_004820		Approved		uc003xvj.2	O75881	OTTHUMG00000164387	ENST00000310193.3:c.1117G>C	8.37:g.65517355C>G	ENSP00000310721:p.Glu373Gln					CYP7B1_ENST00000523954.1_5'UTR	p.E373Q	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN			5	1290	-		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)	373					B2RN07|Q9UNF5	Missense_Mutation	SNP	ENST00000310193.3	37	c.1117G>C	CCDS6180.1	.	.	.	.	.	.	.	.	.	.	C	2.668	-0.278322	0.05679	.	.	ENSG00000172817	ENST00000310193	T	0.68624	-0.34	6.17	-1.63	0.08345	.	0.358819	0.32287	N	0.006311	T	0.33904	0.0879	N	0.01742	-0.745	0.09310	N	0.999999	B	0.12013	0.005	B	0.16289	0.015	T	0.26780	-1.0093	10	0.06365	T	0.9	-5.5651	16.6307	0.85032	0.0:0.2242:0.6491:0.1267	.	373	O75881	CP7B1_HUMAN	Q	373	ENSP00000310721:E373Q	ENSP00000310721:E373Q	E	-	1	0	CYP7B1	65679909	0.415000	0.25416	0.066000	0.19879	0.247000	0.25773	0.032000	0.13732	-0.281000	0.09141	-0.211000	0.12701	GAG		0.438	CYP7B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378550.1			5	47	0	0	0	1	0	5	47				
LIG4	3981	broad.mit.edu	37	13	108861130	108861130	+	Silent	SNP	C	C	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr13:108861130C>T	ENST00000356922.4	-	2	2759	c.2487G>A	c.(2485-2487)ctG>ctA	p.L829L	LIG4_ENST00000442234.1_Silent_p.L829L|LIG4_ENST00000405925.1_Silent_p.L829L	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	829	BRCT 2. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|chromosome organization (GO:0051276)|DNA biosynthetic process (GO:0071897)|DNA ligation (GO:0006266)|DNA ligation involved in DNA recombination (GO:0051102)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|lagging strand elongation (GO:0006273)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|single strand break repair (GO:0000012)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|focal adhesion (GO:0005925)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					TTTTGGTACTCAGGTCATTAA	0.428								Non-homologous end-joining																														ENST00000356922.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(2485-2487)ctG>ctA	Non-homologous end-joining	ligase IV, DNA, ATP-dependent							96.0	92.0	93.0					13																	108861130		2203	4300	6503	SO:0001819	synonymous_variant	3981				cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding	g.chr13:108861130C>T	X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	6.5.1.1		6601	protein-coding gene	gene with protein product	"""polydeoxyribonucleotide synthase [ATP] 4"", ""polynucleotide ligase"", ""sealase"", ""DNA repair enzyme"", ""DNA joinase"""	601837				7760816	Standard	NM_001098268		Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.2487G>A	13.37:g.108861130C>T						LIG4_ENST00000442234.1_Silent_p.L829L|LIG4_ENST00000405925.1_Silent_p.L829L	p.L829L	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN			2	2759	-	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)		829			BRCT 2.		Q8IY66|Q8TEU5	Silent	SNP	ENST00000356922.4	37	c.2487G>A	CCDS9508.1																																																																																				0.428	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045738.4	NM_002312		20	81	0	0	0	1	0	20	81				
CACNA1B	774	broad.mit.edu	37	9	140807638	140807638	+	Silent	SNP	T	T	C			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr9:140807638T>C	ENST00000371372.1	+	4	682	c.537T>C	c.(535-537)ctT>ctC	p.L179L	CACNA1B_ENST00000277551.2_Silent_p.L179L|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371363.1_Silent_p.L179L|CACNA1B_ENST00000371355.4_Silent_p.L179L|CACNA1B_ENST00000371357.1_Silent_p.L179L	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	179					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	CCAGGATCCTTGCCACGGCTG	0.562																																						ENST00000371372.1																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80						c.(535-537)ctT>ctC		calcium channel, voltage-dependent, N type, alpha 1B subunit	Amlodipine(DB00381)|Gabapentin(DB00996)						68.0	72.0	71.0					9																	140807638		2118	4223	6341	SO:0001819	synonymous_variant	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:140807638T>C	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.537T>C	9.37:g.140807638T>C						CACNA1B_ENST00000371357.1_Silent_p.L179L|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000277551.2_Silent_p.L179L|CACNA1B_ENST00000371363.1_Silent_p.L179L|CACNA1B_ENST00000371355.4_Silent_p.L179L	p.L179L	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	4	682	+	all_cancers(76;0.166)		179					B1AQK5	Silent	SNP	ENST00000371372.1	37	c.537T>C	CCDS59522.1																																																																																				0.562	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		24	28	0	0	0	1	0	24	28				
RAB3A	5864	broad.mit.edu	37	19	18313528	18313528	+	Missense_Mutation	SNP	C	C	T	rs367923648		TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr19:18313528C>T	ENST00000222256.4	-	2	201	c.23G>A	c.(22-24)cGc>cAc	p.R8H	AC068499.10_ENST00000594805.3_RNA|RAB3A_ENST00000464076.3_Intron|AC068499.10_ENST00000599416.2_RNA|AC068499.10_ENST00000596473.1_RNA	NM_002866.4	NP_002857.1	P20336	RAB3A_HUMAN	RAB3A, member RAS oncogene family	8					axonogenesis (GO:0007409)|constitutive secretory pathway (GO:0045054)|glutamate secretion (GO:0014047)|GTP catabolic process (GO:0006184)|lung development (GO:0030324)|maintenance of presynaptic active zone structure (GO:0048790)|mitochondrion organization (GO:0007005)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|positive regulation of exocytosis (GO:0045921)|post-embryonic development (GO:0009791)|protein transport (GO:0015031)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|respiratory system process (GO:0003016)|response to electrical stimulus (GO:0051602)|sensory perception of touch (GO:0050975)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|synaptic vesicle maturation (GO:0016188)|synaptic vesicle recycling (GO:0036465)	acrosomal vesicle (GO:0001669)|axon (GO:0030424)|clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|vesicle (GO:0031982)	ATPase activator activity (GO:0001671)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			NS(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	8						CTGCCCATAGCGCGAGTCTGT	0.587											OREG0025360	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000222256.4																			0				NS(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	8						c.(22-24)cGc>cAc		RAB3A, member RAS oncogene family		C	HIS/ARG	0,4406		0,0,2203	180.0	153.0	162.0		23	4.4	1.0	19		162	1,8599	1.2+/-3.3	0,1,4299	no	missense	RAB3A	NM_002866.4	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	8/221	18313528	1,13005	2203	4300	6503	SO:0001583	missense	5864				glutamate secretion|protein transport|small GTPase mediated signal transduction	clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|plasma membrane|synaptic vesicle	GTP binding|GTPase activity	g.chr19:18313528C>T		CCDS12372.1	19p13.2	2008-07-17			ENSG00000105649	ENSG00000105649		"""RAB, member RAS oncogene"""	9777	protein-coding gene	gene with protein product	"""RAS-associated protein RAB3A"""	179490				2687157, 7532276	Standard	NM_002866		Approved		uc002nie.2	P20336	OTTHUMG00000137378	ENST00000222256.4:c.23G>A	19.37:g.18313528C>T	ENSP00000222256:p.Arg8His		OREG0025360	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	724	RAB3A_ENST00000464076.2_Intron	p.R8H	NM_002866.4	NP_002857.1	P20336	RAB3A_HUMAN			2	201	-			8					A8K0J4|Q9NYE1	Missense_Mutation	SNP	ENST00000222256.4	37	c.23G>A	CCDS12372.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.352930	0.61293	0.0	1.16E-4	ENSG00000105649	ENST00000222256	T	0.65549	-0.16	4.4	4.4	0.53042	.	0.085243	0.56097	D	0.000028	T	0.46268	0.1384	N	0.14661	0.345	0.58432	D	0.999994	B	0.06786	0.001	B	0.06405	0.002	T	0.46303	-0.9201	10	0.62326	D	0.03	-14.4127	14.4727	0.67526	0.0:1.0:0.0:0.0	.	8	P20336	RAB3A_HUMAN	H	8	ENSP00000222256:R8H	ENSP00000222256:R8H	R	-	2	0	RAB3A	18174528	1.000000	0.71417	0.982000	0.44146	0.731000	0.41821	6.144000	0.71762	1.996000	0.58369	0.313000	0.20887	CGC		0.587	RAB3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268056.2	NM_002866		50	134	0	0	0	1	0	50	134				
VIT	5212	broad.mit.edu	37	2	36970262	36970262	+	Silent	SNP	C	C	T	rs373107899		TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr2:36970262C>T	ENST00000389975.3	+	4	440	c.138C>T	c.(136-138)tgC>tgT	p.C46C	VIT_ENST00000401530.1_Silent_p.C46C|VIT_ENST00000497382.1_5'UTR|VIT_ENST00000404084.1_Silent_p.C24C|VIT_ENST00000379241.3_Silent_p.C46C|VIT_ENST00000379242.3_Silent_p.C46C|VIT_ENST00000457137.2_Silent_p.C46C	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	Q6UXI7	VITRN_HUMAN	vitrin	46	LCCL. {ECO:0000255|PROSITE- ProRule:PRU00123}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)	glycosaminoglycan binding (GO:0005539)			autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				AGATCAACTGCGATGTCAAAG	0.438																																						ENST00000379242.3																			0				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57						c.(136-138)tgC>tgT		vitrin		C	,,,,	0,4406		0,0,2203	158.0	134.0	142.0		138,138,138,138,138	0.8	1.0	2		142	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	VIT	NM_001177969.1,NM_001177970.1,NM_001177971.1,NM_001177972.1,NM_053276.3	,,,,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,,,,	46/679,46/658,46/657,46/204,46/694	36970262	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	5212					proteinaceous extracellular matrix		g.chr2:36970262C>T	AF063833	CCDS33180.1, CCDS54347.1, CCDS54348.1, CCDS54349.1, CCDS54350.1	2p22.2	2008-05-15			ENSG00000205221	ENSG00000205221			12697	protein-coding gene	gene with protein product							Standard	NM_001177969		Approved		uc002rpl.3	Q6UXI7	OTTHUMG00000152149	ENST00000389975.3:c.138C>T	2.37:g.36970262C>T						VIT_ENST00000401530.1_Silent_p.C46C|VIT_ENST00000404084.1_Silent_p.C24C|VIT_ENST00000457137.2_Silent_p.C46C|VIT_ENST00000379241.3_Silent_p.C46C|VIT_ENST00000497382.1_5'UTR|VIT_ENST00000389975.3_Silent_p.C46C	p.C46C	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN			4	440	+		all_hematologic(82;0.248)	46			LCCL.		A1A526|A6NKI9|A8K7Y4|E9PF47|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0	Silent	SNP	ENST00000389975.3	37	c.138C>T	CCDS54347.1																																																																																				0.438	VIT-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding				4	105	0	0	0	1	0	4	105				
SLC12A7	10723	broad.mit.edu	37	5	1064267	1064267	+	Missense_Mutation	SNP	G	G	C	rs76539639	byFrequency	TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr5:1064267G>C	ENST00000264930.5	-	19	2581	c.2538C>G	c.(2536-2538)atC>atG	p.I846M	MIR4635_ENST00000583759.1_RNA	NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	846					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	ACCACACGTCGATGTGGCCCC	0.687																																						ENST00000264930.5																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32						c.(2536-2538)atC>atG		solute carrier family 12 (potassium/chloride transporter), member 7	Potassium Chloride(DB00761)						38.0	36.0	37.0					5																	1064267		2197	4295	6492	SO:0001583	missense	10723				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity	g.chr5:1064267G>C	AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"""Solute carriers"""	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.2538C>G	5.37:g.1064267G>C	ENSP00000264930:p.Ile846Met						p.I846M	NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		19	2581	-	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		846					A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Missense_Mutation	SNP	ENST00000264930.5	37	c.2538C>G	CCDS34129.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.44|10.44	1.350109|1.350109	0.24512|0.24512	.|.	.|.	ENSG00000113504|ENSG00000113504	ENST00000264930|ENST00000513223	D|.	0.92805|.	-3.11|.	4.26|4.26	-6.84|-6.84	0.01687|0.01687	.|.	0.110586|.	0.64402|.	D|.	0.000017|.	T|T	0.66066|0.66066	0.2752|0.2752	M|M	0.79693|0.79693	2.465|2.465	0.50313|0.50313	D|D	0.999865|0.999865	P|.	0.49783|.	0.928|.	B|.	0.39771|.	0.309|.	T|T	0.69837|0.69837	-0.5037|-0.5037	10|5	0.72032|.	D|.	0.01|.	.|.	7.9096|7.9096	0.29782|0.29782	0.6585:0.0:0.1817:0.1598|0.6585:0.0:0.1817:0.1598	.|.	846|.	Q9Y666|.	S12A7_HUMAN|.	M|G	846|204	ENSP00000264930:I846M|.	ENSP00000264930:I846M|.	I|R	-|-	3|1	3|2	SLC12A7|SLC12A7	1117267|1117267	0.001000|0.001000	0.12720|0.12720	0.122000|0.122000	0.21767|0.21767	0.020000|0.020000	0.10135|0.10135	-2.226000|-2.226000	0.01211|0.01211	-1.122000|-1.122000	0.02945|0.02945	-0.643000|-0.643000	0.03959|0.03959	ATC|CGA		0.687	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	NM_006598		14	51	0	0	0	1	0	14	51				
DERL2	51009	broad.mit.edu	37	17	5389406	5389406	+	Missense_Mutation	SNP	G	G	C			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr17:5389406G>C	ENST00000158771.4	-	1	131	c.76C>G	c.(76-78)Ctc>Gtc	p.L26V	MIS12_ENST00000381165.3_5'Flank|DERL2_ENST00000572834.1_Missense_Mutation_p.L26V|DERL2_ENST00000570848.1_Missense_Mutation_p.L26V|MIS12_ENST00000573759.1_5'Flank|DERL2_ENST00000571968.1_Intron	NM_016041.3	NP_057125.2	Q9GZP9	DERL2_HUMAN	derlin 2	26					endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|retrograde protein transport, ER to cytosol (GO:0030970)|suckling behavior (GO:0001967)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|late endosome (GO:0005770)|membrane (GO:0016020)				large_intestine(3)	3						GCGGTGGTGAGGACGCAGGCA	0.642																																						ENST00000158771.4																			0				large_intestine(3)	3						c.(76-78)Ctc>Gtc		derlin 2							46.0	43.0	44.0					17																	5389406		2190	4285	6475	SO:0001583	missense	51009				endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of cell growth|positive regulation of cell proliferation|retrograde protein transport, ER to cytosol	integral to endoplasmic reticulum membrane	protein binding	g.chr17:5389406G>C	BC010890	CCDS11073.1	17p13.2	2012-02-01	2012-02-01		ENSG00000072849	ENSG00000072849			17943	protein-coding gene	gene with protein product		610304	"""Der1-like domain family, member 2"""			10810093, 11500051	Standard	NM_016041		Approved	F-LAN-1, FLANa, F-LANa, CGI-101, derlin-2	uc002gcc.1	Q9GZP9	OTTHUMG00000102040	ENST00000158771.4:c.76C>G	17.37:g.5389406G>C	ENSP00000158771:p.Leu26Val					DERL2_ENST00000572834.1_Missense_Mutation_p.L26V|DERL2_ENST00000571968.1_Intron|DERL2_ENST00000570848.1_Missense_Mutation_p.L26V	p.L26V	NM_016041.3	NP_057125.2	Q9GZP9	DERL2_HUMAN			1	131	-			26					Q9Y3A7	Missense_Mutation	SNP	ENST00000158771.4	37	c.76C>G	CCDS11073.1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.022931	0.54683	.	.	ENSG00000072849	ENST00000158771	T	0.30182	1.54	6.17	5.2	0.72013	.	0.067394	0.64402	D	0.000011	T	0.32164	0.0820	L	0.49640	1.575	0.80722	D	1	B	0.23806	0.091	B	0.37833	0.259	T	0.08743	-1.0707	10	0.02654	T	1	23.941	14.6	0.68435	0.0693:0.0:0.9307:0.0	.	26	Q9GZP9	DERL2_HUMAN	V	26	ENSP00000158771:L26V	ENSP00000158771:L26V	L	-	1	0	DERL2	5330130	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.038000	0.70964	1.621000	0.50320	0.655000	0.94253	CTC		0.642	DERL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219825.1	NM_016041		22	49	0	0	0	1	0	22	49				
KCNH4	23415	broad.mit.edu	37	17	40317679	40317679	+	Missense_Mutation	SNP	C	C	G			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr17:40317679C>G	ENST00000264661.3	-	11	2205	c.1873G>C	c.(1873-1875)Gag>Cag	p.E625Q	KCNH4_ENST00000607371.1_Missense_Mutation_p.E625Q	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	625					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TGCCCCGGCTCAGGGATATCT	0.577																																					NSCLC(117;707 1703 2300 21308 31858)	ENST00000264661.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32						c.(1873-1875)Gag>Cag		potassium voltage-gated channel, subfamily H (eag-related), member 4							48.0	42.0	44.0					17																	40317679		2203	4300	6503	SO:0001583	missense	23415				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity	g.chr17:40317679C>G	AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.1873G>C	17.37:g.40317679C>G	ENSP00000264661:p.Glu625Gln					KCNH4_ENST00000607371.1_Missense_Mutation_p.E625Q	p.E625Q	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	11	2205	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)	625						Missense_Mutation	SNP	ENST00000264661.3	37	c.1873G>C	CCDS11420.1	.	.	.	.	.	.	.	.	.	.	C	10.13	1.265560	0.23136	.	.	ENSG00000089558	ENST00000264661	D	0.96587	-4.06	4.25	4.25	0.50352	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (1);	0.000000	0.38005	N	0.001855	D	0.90072	0.6899	N	0.12182	0.205	0.35365	D	0.788571	B	0.27192	0.171	B	0.29663	0.105	D	0.88855	0.3322	10	0.15499	T	0.54	.	12.3248	0.55005	0.0:1.0:0.0:0.0	.	625	Q9UQ05	KCNH4_HUMAN	Q	625	ENSP00000264661:E625Q	ENSP00000264661:E625Q	E	-	1	0	KCNH4	37571205	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	5.582000	0.67477	2.376000	0.81061	0.561000	0.74099	GAG		0.577	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2	NM_012285		12	38	0	0	0	1	0	12	38				
KDM2A	22992	broad.mit.edu	37	11	66982819	66982819	+	Missense_Mutation	SNP	C	C	G			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr11:66982819C>G	ENST00000529006.2	+	7	941	c.495C>G	c.(493-495)ttC>ttG	p.F165L	KDM2A_ENST00000398645.2_Missense_Mutation_p.F165L|KDM2A_ENST00000526258.1_3'UTR	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	165	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				histone H3-K36 demethylation (GO:0070544)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						AGGTGGATTTCATTGACTGGG	0.408																																						ENST00000529006.2																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						c.(493-495)ttC>ttG		lysine (K)-specific demethylase 2A							79.0	74.0	76.0					11																	66982819		1894	4098	5992	SO:0001583	missense	22992				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chr11:66982819C>G	BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13606	protein-coding gene	gene with protein product	"""F-box protein FBL11"", ""jumonji C domain-containing histone demethylase 1A"""	605657	"""F-box and leucine-rich repeat protein 11"""	FBXL11		10231032, 10531037	Standard	NM_012308		Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.495C>G	11.37:g.66982819C>G	ENSP00000432786:p.Phe165Leu					KDM2A_ENST00000398645.2_Missense_Mutation_p.F165L|KDM2A_ENST00000526258.1_3'UTR	p.F165L	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN			7	941	+			165			JmjC.		D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	Missense_Mutation	SNP	ENST00000529006.2	37	c.495C>G	CCDS44657.1	.	.	.	.	.	.	.	.	.	.	C	5.813	0.334291	0.11013	.	.	ENSG00000173120	ENST00000398645;ENST00000529006	T;T	0.68765	-0.35;-0.35	5.76	3.57	0.40892	Transcription factor jumonji/aspartyl beta-hydroxylase (2);	0.252805	0.40728	N	0.001037	T	0.23171	0.0560	N	0.00237	-1.79	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.07121	-1.0789	10	0.18276	T	0.48	-18.4497	3.3316	0.07087	0.1329:0.5533:0.1449:0.1689	.	165	Q9Y2K7	KDM2A_HUMAN	L	165	ENSP00000381640:F165L;ENSP00000432786:F165L	ENSP00000381640:F165L	F	+	3	2	KDM2A	66739395	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	0.556000	0.23438	1.451000	0.47736	0.655000	0.94253	TTC		0.408	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393140.2	NM_012308		7	16	0	0	0	1	0	7	16				
AHNAK2	113146	broad.mit.edu	37	14	105407698	105407698	+	Missense_Mutation	SNP	G	G	A	rs377637525		TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr14:105407698G>A	ENST00000333244.5	-	7	14209	c.14090C>T	c.(14089-14091)tCg>tTg	p.S4697L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4697						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CTTAAACTTCGAATCCATTCC	0.403																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(14089-14091)tCg>tTg		AHNAK nucleoprotein 2		G	LEU/SER	0,3748		0,0,1874	54.0	56.0	55.0		14090	-2.9	0.0	14		55	2,8196		0,2,4097	no	missense	AHNAK2	NM_138420.2	145	0,2,5971	AA,AG,GG		0.0244,0.0,0.0167	benign	4697/5796	105407698	2,11944	1874	4099	5973	SO:0001583	missense	113146					nucleus		g.chr14:105407698G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.14090C>T	14.37:g.105407698G>A	ENSP00000353114:p.Ser4697Leu					AHNAK2_ENST00000557457.1_Intron	p.S4697L	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	14209	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	4697					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.14090C>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	G	3.877	-0.026750	0.07589	0.0	2.44E-4	ENSG00000185567	ENST00000333244	T	0.00669	5.9	2.21	-2.86	0.05717	.	.	.	.	.	T	0.00496	0.0016	N	0.11927	0.2	0.09310	N	1	P	0.52170	0.951	B	0.43301	0.415	T	0.46965	-0.9153	9	0.10902	T	0.67	.	5.2781	0.15661	0.197:0.3948:0.4082:0.0	.	4697	Q8IVF2	AHNK2_HUMAN	L	4697	ENSP00000353114:S4697L	ENSP00000353114:S4697L	S	-	2	0	AHNAK2	104478743	0.984000	0.35163	0.000000	0.03702	0.031000	0.12232	2.781000	0.47750	-0.399000	0.07668	0.196000	0.17591	TCG		0.403	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		45	35	0	0	0	1	0	45	35				
PCED1A	64773	broad.mit.edu	37	20	2819522	2819522	+	Silent	SNP	C	C	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr20:2819522C>T	ENST00000360652.2	-	4	913	c.411G>A	c.(409-411)gtG>gtA	p.V137V	VPS16_ENST00000380469.3_5'Flank|PCED1A_ENST00000356872.3_Silent_p.V86V|VPS16_ENST00000380445.3_5'Flank	NM_022760.4	NP_073597.2	Q9H1Q7	PED1A_HUMAN	PC-esterase domain containing 1A	137																	AGTTGATGATCACCAGGTCCG	0.572																																						ENST00000360652.2																			0											c.(409-411)gtG>gtA		PC-esterase domain containing 1A							107.0	102.0	104.0					20																	2819522		2203	4300	6503	SO:0001819	synonymous_variant	64773							g.chr20:2819522C>T	AK026029	CCDS13035.1, CCDS59442.1	20p13	2012-06-11	2012-06-11	2012-06-11	ENSG00000132635	ENSG00000132635			16212	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 81"", ""family with sequence similarity 113, member A"""	C20orf81, FAM113A		20056006	Standard	NM_022760		Approved	bA12M19.1, FLJ22376	uc002wgz.2	Q9H1Q7	OTTHUMG00000031716	ENST00000360652.2:c.411G>A	20.37:g.2819522C>T						PCED1A_ENST00000356872.3_Silent_p.V86V	p.V137V	NM_022760.3	NP_073597.2					4	913	-								Q5JUA5|Q5JUA6|Q6PK19|Q86WF5|Q96CG7|Q9H1Q6|Q9H6D1	Silent	SNP	ENST00000360652.2	37	c.411G>A	CCDS13035.1																																																																																				0.572	PCED1A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077676.2	NM_022760		9	130	0	0	0	1	0	9	130				
SPG11	80208	broad.mit.edu	37	15	44944452	44944452	+	Silent	SNP	T	T	C			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr15:44944452T>C	ENST00000261866.7	-	5	898	c.882A>G	c.(880-882)ggA>ggG	p.G294G	SPG11_ENST00000535302.2_Silent_p.G294G|SPG11_ENST00000558319.1_Silent_p.G294G|SPG11_ENST00000559193.1_Silent_p.G294G|SPG11_ENST00000427534.2_Silent_p.G294G	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	294					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		ACAGTAGGTGTCCTGGGTGTT	0.363																																						ENST00000261866.7																			0				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72						c.(880-882)ggA>ggG		spastic paraplegia 11 (autosomal recessive)							87.0	78.0	81.0					15																	44944452		2198	4298	6496	SO:0001819	synonymous_variant	80208				cell death	cytosol|integral to membrane|nucleus	protein binding	g.chr15:44944452T>C		CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.882A>G	15.37:g.44944452T>C						SPG11_ENST00000558319.1_Silent_p.G294G|SPG11_ENST00000535302.2_Silent_p.G294G|SPG11_ENST00000559193.1_Silent_p.G294G|SPG11_ENST00000427534.2_Silent_p.G294G	p.G294G	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)	5	898	-		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)	294					A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Silent	SNP	ENST00000261866.7	37	c.882A>G	CCDS10112.1																																																																																				0.363	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1			18	47	0	0	0	1	0	18	47				
MFSD12	126321	broad.mit.edu	37	19	3551007	3551007	+	Missense_Mutation	SNP	C	C	T	rs375464453		TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr19:3551007C>T	ENST00000355415.2	-	2	653	c.484G>A	c.(484-486)Gag>Aag	p.E162K	MFSD12_ENST00000389395.3_Missense_Mutation_p.E162K|MFSD12_ENST00000398558.4_Missense_Mutation_p.E162K|AC005786.7_ENST00000589360.1_RNA|MFSD12_ENST00000591878.1_5'UTR	NM_174983.3	NP_778148.2	Q6NUT3	MFS12_HUMAN	major facilitator superfamily domain containing 12	162					transport (GO:0006810)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				cervix(1)|endometrium(2)|lung(4)|urinary_tract(2)	9						TCCACCTTCTCATGGTCGTTG	0.627																																						ENST00000355415.2																			0				cervix(1)|endometrium(2)|lung(4)|urinary_tract(2)	9						c.(484-486)Gag>Aag		major facilitator superfamily domain containing 12		C	LYS/GLU,LYS/GLU,LYS/GLU	1,3979		0,1,1989	21.0	23.0	23.0		484,484,484	4.1	1.0	19		23	0,8298		0,0,4149	no	missense,missense,missense	C19orf28	NM_001042680.1,NM_021731.2,NM_174983.3	56,56,56	0,1,6138	TT,TC,CC		0.0,0.0251,0.0081	possibly-damaging,possibly-damaging,possibly-damaging	162/474,162/539,162/481	3551007	1,12277	1990	4149	6139	SO:0001583	missense	126321				transmembrane transport	integral to membrane		g.chr19:3551007C>T	AF218008	CCDS42465.1, CCDS74256.1	19p13.3	2012-03-09	2011-11-24	2011-11-24	ENSG00000161091	ENSG00000161091			28299	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 28"""	C19orf28		12477932	Standard	NM_174983		Approved	MGC20700, PP3501	uc002lxw.3	Q6NUT3		ENST00000355415.2:c.484G>A	19.37:g.3551007C>T	ENSP00000347583:p.Glu162Lys					MFSD12_ENST00000591878.1_5'UTR|AC005786.7_ENST00000589360.1_RNA|MFSD12_ENST00000398558.4_Missense_Mutation_p.E162K|MFSD12_ENST00000389395.3_Missense_Mutation_p.E162K	p.E162K	NM_174983.3	NP_778148.2	Q6NUT3	CS028_HUMAN			2	653	-			162					A8MXP7|D6W615|E9PAJ8|Q8N459	Missense_Mutation	SNP	ENST00000355415.2	37	c.484G>A	CCDS42465.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.843560	0.91197	2.51E-4	0.0	ENSG00000161091	ENST00000389395;ENST00000398558;ENST00000355415	D;D;D	0.90324	-2.65;-2.65;-2.65	5.13	4.1	0.47936	Major facilitator superfamily domain, general substrate transporter (1);	0.231315	0.45867	D	0.000328	D	0.92704	0.7681	M	0.79123	2.44	0.44395	D	0.997304	P;D;D	0.59357	0.908;0.962;0.985	P;P;P	0.53401	0.716;0.604;0.725	D	0.92361	0.5897	10	0.51188	T	0.08	-31.3854	12.5467	0.56203	0.0:0.9189:0.0:0.0811	.	162;153;162	Q6NUT3;Q6NUT3-2;A8MXP7	CS028_HUMAN;.;.	K	162	ENSP00000374046:E162K;ENSP00000381566:E162K;ENSP00000347583:E162K	ENSP00000347583:E162K	E	-	1	0	C19orf28	3502007	1.000000	0.71417	0.998000	0.56505	0.842000	0.47809	7.048000	0.76606	1.161000	0.42604	0.462000	0.41574	GAG		0.627	MFSD12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452949.2	NM_174983		4	20	0	0	0	1	0	4	20				
NR2F2	7026	broad.mit.edu	37	15	96877672	96877672	+	Silent	SNP	G	G	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr15:96877672G>T	ENST00000394166.3	+	2	2199	c.810G>T	c.(808-810)ctG>ctT	p.L270L	NR2F2_ENST00000453270.2_Silent_p.L117L|NR2F2_ENST00000394171.2_Silent_p.L117L|MIR1469_ENST00000410719.1_RNA|NR2F2_ENST00000421109.2_Silent_p.L137L	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	270	Interaction with ZFPM2. {ECO:0000250}.|Ligand-binding. {ECO:0000250}.				anterior/posterior pattern specification (GO:0009952)|blood vessel morphogenesis (GO:0048514)|fertilization (GO:0009566)|forebrain development (GO:0030900)|intracellular receptor signaling pathway (GO:0030522)|limb development (GO:0060173)|lipid metabolic process (GO:0006629)|maternal placenta development (GO:0001893)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|radial pattern formation (GO:0009956)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to estradiol (GO:0032355)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			CCCCGCTCCTGGCCGCCGCCG	0.642																																						ENST00000394166.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17						c.(808-810)ctG>ctT		nuclear receptor subfamily 2, group F, member 2							41.0	39.0	40.0					15																	96877672		2197	4298	6495	SO:0001819	synonymous_variant	7026				lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding	g.chr15:96877672G>T	M64497	CCDS10375.1, CCDS45358.1, CCDS45359.1	15q26	2013-01-16			ENSG00000185551	ENSG00000185551		"""Nuclear hormone receptors"""	7976	protein-coding gene	gene with protein product		107773		ARP1, TFCOUP2		8530078, 11544252	Standard	NM_021005		Approved	COUP-TFII, COUPTFB, SVP40, NF-E3	uc010uri.2	P24468	OTTHUMG00000149848	ENST00000394166.3:c.810G>T	15.37:g.96877672G>T						NR2F2_ENST00000421109.2_Silent_p.L137L|NR2F2_ENST00000453270.2_Silent_p.L117L|NR2F2_ENST00000394171.2_Silent_p.L117L	p.L270L	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0856)		2	2199	+	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		270			Interaction with ZFPM2 (By similarity).|Ligand-binding (By similarity).		B4DQJ2|B6ZGU1|Q03754|Q3KQR7	Silent	SNP	ENST00000394166.3	37	c.810G>T	CCDS10375.1																																																																																				0.642	NR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313534.1			7	57	1	0	8.12818e-05	1	8.62267e-05	7	57				
SLC35G3	146861	broad.mit.edu	37	17	33520722	33520722	+	Missense_Mutation	SNP	G	G	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr17:33520722G>A	ENST00000297307.5	-	1	690	c.605C>T	c.(604-606)gCg>gTg	p.A202V	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	202						integral component of membrane (GO:0016021)											CAGGGACAGCGCCAGGCCTCC	0.607																																						ENST00000297307.5																			0											c.(604-606)gCg>gTg		solute carrier family 35, member G3							95.0	102.0	99.0					17																	33520722		2203	4300	6503	SO:0001583	missense	146861					integral to membrane		g.chr17:33520722G>A	AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"""Solute carriers"""	26848	protein-coding gene	gene with protein product			"""transmembrane protein 21A"", ""acyl-malonyl condensing enzyme 1"""	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.605C>T	17.37:g.33520722G>A	ENSP00000297307:p.Ala202Val						p.A202V	NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN			1	690	-			202					B9EGE9	Missense_Mutation	SNP	ENST00000297307.5	37	c.605C>T	CCDS11293.1	.	.	.	.	.	.	.	.	.	.	G	11.30	1.597589	0.28445	.	.	ENSG00000164729	ENST00000297307	T	0.27890	1.64	.	.	.	.	0.146381	0.30723	N	0.009015	T	0.17746	0.0426	L	0.51422	1.61	0.25692	N	0.985678	P	0.40144	0.704	B	0.31869	0.137	T	0.23048	-1.0199	9	0.15066	T	0.55	-0.7688	5.844	0.18652	9.0E-4:0.0:0.9991:0.0	.	202	Q8N808	S35G3_HUMAN	V	202	ENSP00000297307:A202V	ENSP00000297307:A202V	A	-	2	0	SLC35G3	30544835	0.545000	0.26449	0.138000	0.22173	0.139000	0.21198	1.948000	0.40303	0.064000	0.16427	0.064000	0.15345	GCG		0.607	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2	NM_152462		48	144	0	0	0	1	0	48	144				
ZNF804B	219578	broad.mit.edu	37	7	88963981	88963981	+	Missense_Mutation	SNP	A	A	G			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr7:88963981A>G	ENST00000333190.4	+	4	2294	c.1685A>G	c.(1684-1686)aAt>aGt	p.N562S		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	562							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TCTGAGCCAAATAAGAGTGAA	0.353										HNSCC(36;0.09)																												ENST00000333190.4																			0				NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144						c.(1684-1686)aAt>aGt		zinc finger protein 804B							42.0	45.0	44.0					7																	88963981		2195	4293	6488	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88963981A>G	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.1685A>G	7.37:g.88963981A>G	ENSP00000329638:p.Asn562Ser	HNSCC(36;0.09)					p.N562S	NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	2294	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		562					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.1685A>G	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	A	1.641	-0.516379	0.04200	.	.	ENSG00000182348	ENST00000333190	T	0.05513	3.43	5.49	-7.06	0.01568	.	0.677881	0.14586	N	0.310548	T	0.03348	0.0097	L	0.35723	1.085	0.09310	N	1	B	0.17852	0.024	B	0.08055	0.003	T	0.31586	-0.9938	10	0.36615	T	0.2	-0.0548	2.2778	0.04106	0.4002:0.2073:0.2921:0.1004	.	562	A4D1E1	Z804B_HUMAN	S	562	ENSP00000329638:N562S	ENSP00000329638:N562S	N	+	2	0	ZNF804B	88801917	0.000000	0.05858	0.000000	0.03702	0.060000	0.15804	0.338000	0.19858	-1.517000	0.01780	-0.250000	0.11733	AAT		0.353	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		27	59	0	0	0	1	0	27	59				
OR4D11	219986	broad.mit.edu	37	11	59271951	59271951	+	Silent	SNP	G	G	A	rs116174674		TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr11:59271951G>A	ENST00000313253.1	+	1	903	c.903G>A	c.(901-903)ctG>ctA	p.L301L		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	301						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						TGAGAAGACTGAAGAGAAGAC	0.522													g|||	1	0.000199681	0.0	0.0	5008	,	,		16719	0.001		0.0	False		,,,				2504	0.0					ENST00000313253.1																			0				endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(901-903)ctG>ctA		olfactory receptor, family 4, subfamily D, member 11							60.0	57.0	58.0					11																	59271951		2201	4295	6496	SO:0001819	synonymous_variant	219986				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59271951G>A	AB065810	CCDS31563.1	11q12.1	2012-08-09		2004-03-10	ENSG00000176200	ENSG00000176200		"""GPCR / Class A : Olfactory receptors"""	15174	protein-coding gene	gene with protein product				OR4D11P			Standard	NM_001004706		Approved		uc001noa.1	Q8NGI4	OTTHUMG00000167342	ENST00000313253.1:c.903G>A	11.37:g.59271951G>A							p.L301L	NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN			1	903	+			301						Silent	SNP	ENST00000313253.1	37	c.903G>A	CCDS31563.1																																																																																				0.522	OR4D11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394236.1	NM_001004706		17	29	0	0	0	1	0	17	29				
AGAP11	119385	broad.mit.edu	37	10	88768491	88768491	+	RNA	SNP	A	A	G			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr10:88768491A>G	ENST00000444431.1	+	0	3091				RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.10_ENST00000451760.1_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)										TTAGGTGATTATATGAAGAAT	0.443																																						ENST00000444431.1																			0													ankyrin repeat and GTPase domain Arf GTPase activating protein 11							75.0	88.0	83.0					10																	88768491		2173	4263	6436			119385				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:88768491A>G			10q23.2	2013-01-11			ENSG00000151303	ENSG00000151303		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	29421	protein-coding gene	gene with protein product						11853319	Standard	NM_133447		Approved	KIAA1975	uc001kee.2	Q8TF27	OTTHUMG00000018667		10.37:g.88768491A>G						RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA				Q8TF27	AGA11_HUMAN			0	3091	+								B9EIP7|D3DWE4	RNA	SNP	ENST00000444431.1	37																																																																																						0.443	AGAP11-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000049193.1	NM_133447		112	177	0	0	0	1	0	112	177				
SLC13A3	64849	broad.mit.edu	37	20	45221067	45221067	+	Missense_Mutation	SNP	A	A	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr20:45221067A>T	ENST00000279027.4	-	6	914	c.896T>A	c.(895-897)tTc>tAc	p.F299Y	SLC13A3_ENST00000413164.2_Missense_Mutation_p.F249Y|SLC13A3_ENST00000435032.1_5'UTR|SLC13A3_ENST00000290317.5_Missense_Mutation_p.F252Y|SLC13A3_ENST00000396360.1_Missense_Mutation_p.F252Y|SLC13A3_ENST00000472148.1_Missense_Mutation_p.F252Y|SLC13A3_ENST00000372121.1_Missense_Mutation_p.F249Y|SLC13A3_ENST00000495082.1_Missense_Mutation_p.F252Y	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	299					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-affinity sodium:dicarboxylate symporter activity (GO:0015362)			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	CCCGTACAGGAAGGAGATCCA	0.502																																						ENST00000279027.4																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(895-897)tTc>tAc		solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	Succinic acid(DB00139)						133.0	107.0	116.0					20																	45221067		2203	4300	6503	SO:0001583	missense	64849					integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity	g.chr20:45221067A>T	AF154121	CCDS13400.1, CCDS42886.1, CCDS54469.1, CCDS54470.1	20q13.12	2013-05-22			ENSG00000158296	ENSG00000158296		"""Solute carriers"""	14430	protein-coding gene	gene with protein product		606411				10794676, 10992006	Standard	NM_001011554		Approved	NADC3, SDCT2	uc002xsf.2	Q8WWT9	OTTHUMG00000033042	ENST00000279027.4:c.896T>A	20.37:g.45221067A>T	ENSP00000279027:p.Phe299Tyr					SLC13A3_ENST00000413164.2_Missense_Mutation_p.F249Y|SLC13A3_ENST00000396360.1_Missense_Mutation_p.F252Y|SLC13A3_ENST00000495082.1_Missense_Mutation_p.F252Y|SLC13A3_ENST00000472148.1_Missense_Mutation_p.F252Y|SLC13A3_ENST00000372121.1_Missense_Mutation_p.F249Y|SLC13A3_ENST00000290317.5_Missense_Mutation_p.F252Y|SLC13A3_ENST00000435032.1_5'UTR	p.F299Y	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN			6	914	-		Myeloproliferative disorder(115;0.0122)	299					B4DIR8|E1P5U4|F6WI18|Q5JYC9|Q5JYD0|Q5JYD1|Q5TCQ2|Q8IVB1|Q8N8K4|Q96MM5|Q9BR25|Q9H1G1|Q9H3W4|Q9NQN5|Q9NS04	Missense_Mutation	SNP	ENST00000279027.4	37	c.896T>A	CCDS13400.1	.	.	.	.	.	.	.	.	.	.	A	18.88	3.717152	0.68844	.	.	ENSG00000158296	ENST00000290317;ENST00000396360;ENST00000279027;ENST00000472148;ENST00000413164;ENST00000495082;ENST00000468915;ENST00000420568;ENST00000372121	T;T;T;T;T;T;T;T;T	0.10763	4.16;4.16;4.16;4.16;3.55;4.16;4.16;2.84;2.84	5.45	5.45	0.79879	.	0.103697	0.64402	D	0.000003	T	0.12860	0.0312	N	0.26042	0.785	0.80722	D	1	B;B;B;B	0.30763	0.289;0.07;0.022;0.294	B;B;B;B	0.40940	0.344;0.082;0.056;0.088	T	0.23013	-1.0200	10	0.31617	T	0.26	-30.9153	15.5218	0.75871	1.0:0.0:0.0:0.0	.	249;252;252;299	B4DIR8;Q8WWT9-3;F6WI18;Q8WWT9	.;.;.;S13A3_HUMAN	Y	252;252;299;252;249;252;252;212;249	ENSP00000290317:F252Y;ENSP00000379648:F252Y;ENSP00000279027:F299Y;ENSP00000420177:F252Y;ENSP00000415852:F249Y;ENSP00000419621:F252Y;ENSP00000417784:F252Y;ENSP00000395095:F212Y;ENSP00000361193:F249Y	ENSP00000279027:F299Y	F	-	2	0	SLC13A3	44654474	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	5.730000	0.68546	2.076000	0.62316	0.533000	0.62120	TTC		0.502	SLC13A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080329.2			24	87	0	0	0	1	0	24	87				
NLRP7	199713	broad.mit.edu	37	19	55449431	55449431	+	Missense_Mutation	SNP	A	A	C			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr19:55449431A>C	ENST00000590030.1	-	4	2150	c.2110T>G	c.(2110-2112)Tgt>Ggt	p.C704G	NLRP7_ENST00000592784.1_Missense_Mutation_p.C704G|NLRP7_ENST00000340844.2_Missense_Mutation_p.C704G|NLRP7_ENST00000588756.1_Missense_Mutation_p.C704G|NLRP7_ENST00000328092.5_Missense_Mutation_p.C676G|NLRP7_ENST00000448121.2_Missense_Mutation_p.C676G|NLRP7_ENST00000446217.1_Missense_Mutation_p.C732G			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	704							ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TGCAGATGACAGGTGCTACGG	0.428																																						ENST00000446217.1																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73						c.(2194-2196)Tgt>Ggt		NLR family, pyrin domain containing 7							245.0	255.0	251.0					19																	55449431		2203	4300	6503	SO:0001583	missense	199713						ATP binding	g.chr19:55449431A>C	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.2110T>G	19.37:g.55449431A>C	ENSP00000465520:p.Cys704Gly					NLRP7_ENST00000340844.2_Missense_Mutation_p.C704G|NLRP7_ENST00000328092.5_Missense_Mutation_p.C676G|NLRP7_ENST00000592784.1_Missense_Mutation_p.C704G|NLRP7_ENST00000590030.1_Missense_Mutation_p.C704G|NLRP7_ENST00000588756.1_Missense_Mutation_p.C704G|NLRP7_ENST00000448121.2_Missense_Mutation_p.C676G	p.C732G			Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	7	2596	-			704					E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	ENST00000590030.1	37	c.2194T>G	CCDS33109.1	.	.	.	.	.	.	.	.	.	.	A	11.41	1.631891	0.29068	.	.	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217;ENST00000399724	T;T;T	0.53857	0.6;0.6;0.6	2.19	1.17	0.20885	.	0.957842	0.08524	N	0.932980	T	0.60830	0.2299	M	0.73598	2.24	0.09310	N	1	P;P;P;P	0.50443	0.902;0.82;0.82;0.935	P;B;B;P	0.52627	0.66;0.328;0.328;0.704	T	0.49771	-0.8904	10	0.72032	D	0.01	.	5.4878	0.16759	0.8468:0.0:0.1532:0.0	.	732;704;704;676	E7EPM2;Q32MH9;Q8WX94;Q8WX94-2	.;.;NALP7_HUMAN;.	G	704;676;704;732;471	ENSP00000409137:C676G;ENSP00000339491:C704G;ENSP00000414273:C732G	ENSP00000329568:C704G	C	-	1	0	NLRP7	60141243	0.073000	0.21202	0.023000	0.16930	0.020000	0.10135	0.433000	0.21477	0.301000	0.22738	0.459000	0.35465	TGT		0.428	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		95	202	0	0	0	1	0	95	202				
KIAA0753	9851	broad.mit.edu	37	17	6498368	6498368	+	Silent	SNP	G	G	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr17:6498368G>A	ENST00000361413.3	-	16	2722	c.2364C>T	c.(2362-2364)taC>taT	p.Y788Y	KIAA0753_ENST00000572370.1_Silent_p.Y489Y|KIAA0753_ENST00000575027.1_5'UTR|KIAA0753_ENST00000542606.1_Silent_p.Y489Y|KIAA0753_ENST00000589033.1_Silent_p.Y244Y	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	788						centrosome (GO:0005813)|cytoplasm (GO:0005737)				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		CAGACTCCTGGTATTTCTTTA	0.328																																						ENST00000361413.3																			0				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24						c.(2362-2364)taC>taT		KIAA0753							57.0	54.0	55.0					17																	6498368		1791	4059	5850	SO:0001819	synonymous_variant	9851					centrosome		g.chr17:6498368G>A		CCDS42247.1	17p13.1	2014-04-04			ENSG00000198920	ENSG00000198920			29110	protein-coding gene	gene with protein product						24613305	Standard	NM_014804		Approved		uc002gde.4	Q2KHM9	OTTHUMG00000177928	ENST00000361413.3:c.2364C>T	17.37:g.6498368G>A						KIAA0753_ENST00000589033.1_Silent_p.Y244Y|KIAA0753_ENST00000542606.1_Silent_p.Y489Y|KIAA0753_ENST00000575027.1_5'UTR|KIAA0753_ENST00000572370.1_Silent_p.Y489Y	p.Y788Y	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN		COAD - Colon adenocarcinoma(228;0.157)	16	2722	-			788					A8KA11|B7Z479|O94853|Q05D97|Q2KHN0|Q9UG45	Silent	SNP	ENST00000361413.3	37	c.2364C>T	CCDS42247.1																																																																																				0.328	KIAA0753-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439769.3	NM_014804		17	52	0	0	0	1	0	17	52				
GTDC1	79712	broad.mit.edu	37	2	144714808	144714808	+	Missense_Mutation	SNP	C	C	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr2:144714808C>T	ENST00000392869.2	-	8	1236	c.1084G>A	c.(1084-1086)Gat>Aat	p.D362N	AC016910.1_ENST00000422799.1_RNA|GTDC1_ENST00000344850.4_Missense_Mutation_p.D362N|GTDC1_ENST00000463875.2_Missense_Mutation_p.D233N|GTDC1_ENST00000409298.1_Missense_Mutation_p.D244N|GTDC1_ENST00000241391.5_Intron|GTDC1_ENST00000409214.1_Missense_Mutation_p.D362N|GTDC1_ENST00000542155.1_Missense_Mutation_p.D362N|GTDC1_ENST00000392867.3_Intron	NM_001284234.1	NP_001271163.1	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	362					biosynthetic process (GO:0009058)		transferase activity, transferring glycosyl groups (GO:0016757)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		ATGACAACATCAGCCATGCAC	0.388																																						ENST00000409214.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25						c.(1084-1086)Gat>Aat		glycosyltransferase-like domain containing 1							131.0	118.0	123.0					2																	144714808		2203	4300	6503	SO:0001583	missense	79712				biosynthetic process		transferase activity, transferring glycosyl groups	g.chr2:144714808C>T	AY281366	CCDS2185.1, CCDS33300.1, CCDS63029.1, CCDS74582.1, CCDS74583.1	2q22.3	2013-02-22			ENSG00000121964	ENSG00000121964		"""Glycosyltransferase group 1 domain containing"""	20887	protein-coding gene	gene with protein product	"""mannosyltransferase-like"""	610165				15068588, 21821951	Standard	NM_024659		Approved	FLJ11753, Hmat-Xa	uc010fnn.3	Q4AE62	OTTHUMG00000131835	ENST00000392869.2:c.1084G>A	2.37:g.144714808C>T	ENSP00000376608:p.Asp362Asn					GTDC1_ENST00000344850.4_Missense_Mutation_p.D362N|GTDC1_ENST00000392867.3_Intron|GTDC1_ENST00000392869.1_Missense_Mutation_p.D362N|GTDC1_ENST00000463875.2_Missense_Mutation_p.D233N|GTDC1_ENST00000542155.1_Missense_Mutation_p.D362N|AC016910.1_ENST00000422799.1_RNA|GTDC1_ENST00000409298.1_Missense_Mutation_p.D244N|GTDC1_ENST00000241391.5_Intron	p.D362N	NM_001006636.3	NP_001006637.1	Q4AE62	GTDC1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0914)	9	1362	-			362					A8K5P2|D3DP81|Q53SM7|Q53TC5|Q6P7E7|Q6PJB6|Q6WKW6|Q9HAE5	Missense_Mutation	SNP	ENST00000392869.2	37	c.1084G>A	CCDS33300.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.493760	0.84962	.	.	ENSG00000121964	ENST00000392869;ENST00000409214;ENST00000409298;ENST00000542155;ENST00000344850;ENST00000463875	T;T;D;T;T;T	0.86297	-1.42;-1.42;-2.1;-1.42;-1.42;-1.42	5.93	5.93	0.95920	Glycosyl transferase, family 1 (1);	0.000000	0.85682	D	0.000000	D	0.95130	0.8422	M	0.89715	3.055	0.80722	D	1	D;D;D	0.89917	1.0;0.997;1.0	D;D;D	0.91635	0.998;0.996;0.999	D	0.95024	0.8163	10	0.66056	D	0.02	-1.719	20.3539	0.98825	0.0:1.0:0.0:0.0	.	362;244;362	G1UFN1;B8ZZ45;Q4AE62	.;.;GTDC1_HUMAN	N	362;362;244;362;362;233	ENSP00000376608:D362N;ENSP00000386581:D362N;ENSP00000386691:D244N;ENSP00000438323:D362N;ENSP00000339750:D362N;ENSP00000437964:D233N	ENSP00000339750:D362N	D	-	1	0	GTDC1	144431278	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.339000	0.79282	2.826000	0.97356	0.655000	0.94253	GAT		0.388	GTDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254779.2	NM_024659		14	57	0	0	0	1	0	14	57				
MGAM	8972	broad.mit.edu	37	7	141708351	141708351	+	Missense_Mutation	SNP	G	G	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr7:141708351G>A	ENST00000549489.2	+	3	268	c.173G>A	c.(172-174)gGt>gAt	p.G58D	MGAM_ENST00000475668.2_Missense_Mutation_p.G58D	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	58	Ser/Thr-rich.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GGGACAACTGGTACCCCAGAT	0.478																																						ENST00000475668.2																			0				cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13						c.(172-174)gGt>gAt		maltase-glucoamylase (alpha-glucosidase)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						75.0	71.0	72.0					7																	141708351		1847	4094	5941	SO:0001583	missense	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141708351G>A	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.173G>A	7.37:g.141708351G>A	ENSP00000447378:p.Gly58Asp					MGAM_ENST00000549489.2_Missense_Mutation_p.G58D	p.G58D			O43451	MGA_HUMAN			3	227	+	Melanoma(164;0.0272)		58			Ser/Thr-rich.		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	c.173G>A	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	G	0.167	-1.074888	0.01903	.	.	ENSG00000257335	ENST00000465654;ENST00000549489;ENST00000497673;ENST00000475668	T;D;T	0.88975	-0.74;-2.45;0.65	1.77	0.878	0.19150	.	.	.	.	.	T	0.77598	0.4154	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.58668	-0.7596	9	0.12430	T	0.62	.	4.3813	0.11295	0.2079:0.0:0.7921:0.0	.	58	O43451	MGA_HUMAN	D	58	ENSP00000419372:G58D;ENSP00000447378:G58D;ENSP00000417103:G58D	ENSP00000373973:G58D	G	+	2	0	MGAM	141354820	0.112000	0.22096	0.001000	0.08648	0.001000	0.01503	-0.506000	0.06359	0.315000	0.23110	-0.137000	0.14449	GGT		0.478	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			6	15	0	0	0	1	0	6	15				
CPSF6	11052	broad.mit.edu	37	12	69650523	69650523	+	Missense_Mutation	SNP	A	A	G			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr12:69650523A>G	ENST00000435070.2	+	4	531	c.421A>G	c.(421-423)Atg>Gtg	p.M141V	CPSF6_ENST00000266679.8_Missense_Mutation_p.M141V|CPSF6_ENST00000456847.3_Missense_Mutation_p.M141V|CPSF6_ENST00000551516.1_Intron	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	141	Necessary for interaction with NUDT21/CPSF5.|RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA polyadenylation (GO:0006378)|mRNA processing (GO:0006397)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			AAAAAAGTTAATGGATCTGTT	0.358																																						ENST00000435070.2																			0				endometrium(1)|large_intestine(7)|lung(8)	16						c.(421-423)Atg>Gtg		cleavage and polyadenylation specific factor 6, 68kDa							127.0	128.0	128.0					12																	69650523		2203	4300	6503	SO:0001583	missense	11052				mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding	g.chr12:69650523A>G	X67336	CCDS8988.1, CCDS73494.1	12q15	2013-06-18	2002-08-29			ENSG00000111605		"""RNA binding motif (RRM) containing"""	13871	protein-coding gene	gene with protein product	"""cleavage factor Im complex 68 kDa subunit"""	604979	"""cleavage and polyadenylation specific factor 6, 68kD subunit"""			9659921, 17267687	Standard	NM_007007		Approved	CFIM, HPBRII-4, HPBRII-7, CFIM68	uc001sut.4	Q16630		ENST00000435070.2:c.421A>G	12.37:g.69650523A>G	ENSP00000391774:p.Met141Val					CPSF6_ENST00000456847.3_Missense_Mutation_p.M141V|CPSF6_ENST00000266679.8_Missense_Mutation_p.M141V|CPSF6_ENST00000551516.1_Intron	p.M141V	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)		4	531	+	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		141			Necessary for interaction with NUDT21/CPSF5.|RRM.		A8K7K9|Q53ES1|Q9BSJ7|Q9BW18	Missense_Mutation	SNP	ENST00000435070.2	37	c.421A>G	CCDS8988.1	.	.	.	.	.	.	.	.	.	.	A	15.82	2.946477	0.53186	.	.	ENSG00000111605	ENST00000435070;ENST00000456847;ENST00000266679	T;T;T	0.07800	3.16;3.16;3.16	5.85	4.71	0.59529	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.067807	0.85682	D	0.000000	T	0.07908	0.0198	L	0.47078	1.49	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.21999	-1.0229	9	.	.	.	-6.2316	7.843	0.29410	0.7925:0.1385:0.069:0.0	.	141;141	Q16630-2;Q16630	.;CPSF6_HUMAN	V	141	ENSP00000391774:M141V;ENSP00000391437:M141V;ENSP00000266679:M141V	.	M	+	1	0	CPSF6	67936790	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.356000	0.79445	1.165000	0.42670	0.533000	0.62120	ATG		0.358	CPSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403609.1	NM_007007		42	72	0	0	0	1	0	42	72				
FNBP4	23360	broad.mit.edu	37	11	47765672	47765672	+	Missense_Mutation	SNP	C	C	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr11:47765672C>A	ENST00000263773.5	-	8	1301	c.1289G>T	c.(1288-1290)gGg>gTg	p.G430V	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	430						nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						TGGACTAGACCCTGACACACT	0.418																																						ENST00000263773.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						c.(1288-1290)gGg>gTg		formin binding protein 4							122.0	112.0	115.0					11																	47765672		2057	4210	6267	SO:0001583	missense	23360							g.chr11:47765672C>A	BC037404	CCDS41644.1	11q12.1	2008-02-05			ENSG00000109920	ENSG00000109920			19752	protein-coding gene	gene with protein product		615265				10231032	Standard	NM_015308		Approved	KIAA1014	uc009ylv.3	Q8N3X1	OTTHUMG00000166533	ENST00000263773.5:c.1289G>T	11.37:g.47765672C>A	ENSP00000263773:p.Gly430Val					FNBP4_ENST00000534003.1_5'UTR	p.G430V	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN			8	1301	-			430					Q9H985|Q9NT81|Q9Y2L7	Missense_Mutation	SNP	ENST00000263773.5	37	c.1289G>T	CCDS41644.1	.	.	.	.	.	.	.	.	.	.	C	32	5.184476	0.94885	.	.	ENSG00000109920	ENST00000263773	T	0.55413	0.52	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.66848	0.2831	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.66085	-0.6011	10	0.59425	D	0.04	-21.7265	20.3539	0.98825	0.0:1.0:0.0:0.0	.	430	Q8N3X1	FNBP4_HUMAN	V	430	ENSP00000263773:G430V	ENSP00000263773:G430V	G	-	2	0	FNBP4	47722248	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.324000	0.79115	2.826000	0.97356	0.655000	0.94253	GGG		0.418	FNBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390237.3			22	48	1	0	1.28384e-07	1	1.39918e-07	22	48				
ACSM4	341392	broad.mit.edu	37	12	7475033	7475033	+	Missense_Mutation	SNP	C	C	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr12:7475033C>T	ENST00000399422.4	+	7	1069	c.1021C>T	c.(1021-1023)Cgg>Tgg	p.R341W		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	341					acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty-acyl-CoA synthase activity (GO:0004321)|metal ion binding (GO:0046872)			endometrium(6)|kidney(1)|lung(14)	21						CAAGAGTCTGCGGCACTGCTT	0.512																																						ENST00000399422.4																			0				endometrium(6)|kidney(1)|lung(14)	21						c.(1021-1023)Cgg>Tgg		acyl-CoA synthetase medium-chain family member 4							58.0	58.0	58.0					12																	7475033		1922	4135	6057	SO:0001583	missense	341392				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr12:7475033C>T		CCDS44825.1	12p13.31	2008-06-12			ENSG00000215009	ENSG00000215009		"""Acyl-CoA synthetase family"""	32016	protein-coding gene	gene with protein product	"""similar to olfactory specific medium-chain acyl CoA synthetase"""	614360				17762044	Standard	NM_001080454		Approved		uc001qsx.1	P0C7M7	OTTHUMG00000154975	ENST00000399422.4:c.1021C>T	12.37:g.7475033C>T	ENSP00000382349:p.Arg341Trp						p.R341W	NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN			7	1069	+			341					A8MTI6	Missense_Mutation	SNP	ENST00000399422.4	37	c.1021C>T	CCDS44825.1	.	.	.	.	.	.	.	.	.	.	C	11.42	1.633380	0.29068	.	.	ENSG00000215009	ENST00000399422	T	0.56275	0.47	3.4	-0.105	0.13601	AMP-dependent synthetase/ligase (1);	1.088790	0.07435	U	0.896382	T	0.73434	0.3586	H	0.94847	3.59	0.09310	N	1	D	0.64830	0.994	P	0.55011	0.766	T	0.62515	-0.6838	10	0.72032	D	0.01	11.2912	9.7736	0.40605	0.5079:0.4921:0.0:0.0	.	341	P0C7M7	ACSM4_HUMAN	W	341	ENSP00000382349:R341W	ENSP00000382349:R341W	R	+	1	2	ACSM4	7366300	0.000000	0.05858	0.006000	0.13384	0.338000	0.28826	-1.945000	0.01537	0.204000	0.20548	0.563000	0.77884	CGG		0.512	ACSM4-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337866.2	NM_001080454		20	49	0	0	0	1	0	20	49				
SNPH	9751	broad.mit.edu	37	20	1285872	1285872	+	Missense_Mutation	SNP	A	A	G			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr20:1285872A>G	ENST00000381873.3	+	6	895	c.659A>G	c.(658-660)gAc>gGc	p.D220G	SNPH_ENST00000381867.1_Missense_Mutation_p.D264G	NM_014723.2	NP_055538.2	O15079	SNPH_HUMAN	syntaphilin	220					brain development (GO:0007420)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|synaptic vesicle docking involved in exocytosis (GO:0016081)	cell junction (GO:0030054)|cytoplasmic microtubule (GO:0005881)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)	syntaxin-1 binding (GO:0017075)			endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						AAGCTGAGTGACCCGGCTGTC	0.662																																						ENST00000381867.1																			0				endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(790-792)gAc>gGc		syntaphilin							24.0	24.0	24.0					20																	1285872		2203	4298	6501	SO:0001583	missense	9751				synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding	g.chr20:1285872A>G		CCDS13012.1	20p13	2008-07-02			ENSG00000101298	ENSG00000101298			15931	protein-coding gene	gene with protein product		604942				10707983	Standard	NM_014723		Approved	bA314N13.5	uc002wes.3	O15079	OTTHUMG00000031662	ENST00000381873.3:c.659A>G	20.37:g.1285872A>G	ENSP00000371297:p.Asp220Gly					SNPH_ENST00000381873.3_Missense_Mutation_p.D220G	p.D264G			O15079	SNPH_HUMAN			7	1433	+			220					Q8IYI3	Missense_Mutation	SNP	ENST00000381873.3	37	c.791A>G	CCDS13012.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.003542	0.74932	.	.	ENSG00000101298	ENST00000381873;ENST00000381867	.	.	.	4.75	4.75	0.60458	.	0.133866	0.47455	D	0.000228	T	0.65312	0.2679	L	0.39147	1.195	0.50813	D	0.999897	D;D	0.71674	0.998;0.998	D;D	0.66196	0.942;0.942	T	0.67317	-0.5701	9	0.56958	D	0.05	-32.0863	12.6401	0.56705	1.0:0.0:0.0:0.0	.	264;220	O15079-2;O15079	.;SNPH_HUMAN	G	220;264	.	ENSP00000371291:D264G	D	+	2	0	SNPH	1233872	1.000000	0.71417	0.994000	0.49952	0.976000	0.68499	6.089000	0.71384	2.005000	0.58758	0.459000	0.35465	GAC		0.662	SNPH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145240.2	NM_014723		7	21	0	0	0	1	0	7	21				
UNC50	25972	broad.mit.edu	37	2	99226188	99226188	+	Intron	SNP	C	C	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr2:99226188C>T	ENST00000357765.2	+	2	148				COA5_ENST00000328709.3_5'Flank|UNC50_ENST00000409347.1_Missense_Mutation_p.T6M|COA5_ENST00000409997.1_5'Flank|COA5_ENST00000483527.1_5'Flank|UNC50_ENST00000409975.1_Missense_Mutation_p.T6M	NM_014044.5	NP_054763.2	Q53HI1	UNC50_HUMAN	unc-50 homolog (C. elegans)						cell surface receptor signaling pathway (GO:0007166)|protein transport (GO:0015031)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)	RNA binding (GO:0003723)			breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)	10						CTTCAGAATACGTGTAAAAGA	0.453																																						ENST00000409975.1																			0				breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)	10						c.(16-18)aCg>aTg		unc-50 homolog (C. elegans)							158.0	169.0	165.0					2																	99226188		2203	4300	6503	SO:0001627	intron_variant	25972				protein transport	Golgi membrane|integral to membrane|nuclear inner membrane	RNA binding	g.chr2:99226188C>T		CCDS2035.1	2q12.2	2008-02-05			ENSG00000115446	ENSG00000115446			16046	protein-coding gene	gene with protein product						10980252	Standard	NM_014044		Approved	URP, UNCL, GMH1	uc002szc.4	Q53HI1	OTTHUMG00000130562	ENST00000357765.2:c.-4-31C>T	2.37:g.99226188C>T						UNC50_ENST00000409347.1_Missense_Mutation_p.T6M|UNC50_ENST00000357765.2_Intron	p.T6M			Q53HI1	UNC50_HUMAN			1	1147	+			0					D3DVH4|Q53S98|Q53TD6|Q5U5U2|Q6X7B9|Q9UQF4|Q9Y4S6	Missense_Mutation	SNP	ENST00000357765.2	37	c.17C>T	CCDS2035.1	.	.	.	.	.	.	.	.	.	.	C	8.692	0.907638	0.17833	.	.	ENSG00000115446	ENST00000409975;ENST00000409347	.	.	.	4.42	-5.08	0.02929	.	.	.	.	.	T	0.38161	0.1030	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.50625	-0.8806	5	0.87932	D	0	.	8.3799	0.32466	0.1273:0.1735:0.0:0.6992	.	.	.	.	M	6	.	ENSP00000386466:T6M	T	+	2	0	UNC50	98592620	0.000000	0.05858	0.000000	0.03702	0.059000	0.15707	-0.705000	0.05052	-1.084000	0.03092	-0.218000	0.12543	ACG		0.453	UNC50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252987.1	NM_014044		5	304	0	0	0	1	0	5	304				
LRP2	4036	broad.mit.edu	37	2	170042104	170042104	+	Missense_Mutation	SNP	C	C	G			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr2:170042104C>G	ENST00000263816.3	-	50	10039	c.9754G>C	c.(9754-9756)Gag>Cag	p.E3252Q		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3252					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	AACATTCTCTCAATGACTTGC	0.413																																						ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(9754-9756)Gag>Cag		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						160.0	151.0	154.0					2																	170042104		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170042104C>G		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.9754G>C	2.37:g.170042104C>G	ENSP00000263816:p.Glu3252Gln						p.E3252Q	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	50	10039	-			3252					O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.9754G>C	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	19.12	3.766260	0.69878	.	.	ENSG00000081479	ENST00000263816	D	0.90900	-2.75	5.91	5.91	0.95273	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.93919	0.8054	L	0.49571	1.57	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.91303	0.5068	10	0.25751	T	0.34	.	20.2936	0.98544	0.0:1.0:0.0:0.0	.	3252	P98164	LRP2_HUMAN	Q	3252	ENSP00000263816:E3252Q	ENSP00000263816:E3252Q	E	-	1	0	LRP2	169750350	1.000000	0.71417	0.999000	0.59377	0.806000	0.45545	7.734000	0.84928	2.801000	0.96364	0.655000	0.94253	GAG		0.413	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		28	68	0	0	0	1	0	28	68				
ATP2B3	492	broad.mit.edu	37	X	152815728	152815728	+	Missense_Mutation	SNP	G	G	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chrX:152815728G>A	ENST00000349466.2	+	11	2133	c.1807G>A	c.(1807-1809)Gag>Aag	p.E603K	ATP2B3_ENST00000263519.4_Missense_Mutation_p.E603K|ATP2B3_ENST00000370186.1_Missense_Mutation_p.E589K|ATP2B3_ENST00000359149.3_Missense_Mutation_p.E603K|ATP2B3_ENST00000393842.1_Missense_Mutation_p.E589K|ATP2B3_ENST00000370181.2_Missense_Mutation_p.E589K			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	603					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGGGGCCTCAGAGATCCTCTT	0.537																																						ENST00000370186.1																			0				NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50						c.(1765-1767)Gag>Aag		ATPase, Ca++ transporting, plasma membrane 3							67.0	61.0	63.0					X																	152815728		2203	4300	6503	SO:0001583	missense	492				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	g.chrX:152815728G>A	U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"""ATPases / P-type"""	816	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 3"", ""cilia and flagella associated protein 39"""	300014	"""spinocerebellar ataxia, X-linked 1"", ""cerebellar ataxia 2 (X-linked)"""	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.1807G>A	X.37:g.152815728G>A	ENSP00000343886:p.Glu603Lys					ATP2B3_ENST00000349466.2_Missense_Mutation_p.E603K|ATP2B3_ENST00000393842.1_Missense_Mutation_p.E589K|ATP2B3_ENST00000370181.2_Missense_Mutation_p.E589K|ATP2B3_ENST00000359149.3_Missense_Mutation_p.E603K|ATP2B3_ENST00000263519.4_Missense_Mutation_p.E603K	p.E589K			Q16720	AT2B3_HUMAN			10	2091	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		603					B7WNR8|B7WNY5|Q12995|Q16858	Missense_Mutation	SNP	ENST00000349466.2	37	c.1765G>A	CCDS35440.1	.	.	.	.	.	.	.	.	.	.	g	32	5.159177	0.94686	.	.	ENSG00000067842	ENST00000370186;ENST00000349466;ENST00000393842;ENST00000359149;ENST00000263519;ENST00000370181	D;D;D;D;D;D	0.81908	-1.55;-1.55;-1.55;-1.55;-1.55;-1.55	5.02	5.02	0.67125	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.109676	0.64402	D	0.000013	D	0.93684	0.7982	H	0.95079	3.62	0.58432	D	0.999998	D;D	0.76494	0.999;0.999	D;D	0.81914	0.995;0.991	D	0.95618	0.8678	10	0.87932	D	0	-24.0778	16.1936	0.82006	0.0:0.0:1.0:0.0	.	603;603	Q16720;Q16720-2	AT2B3_HUMAN;.	K	589;603;589;603;603;589	ENSP00000359205:E589K;ENSP00000343886:E603K;ENSP00000377425:E589K;ENSP00000352062:E603K;ENSP00000263519:E603K;ENSP00000359200:E589K	ENSP00000263519:E603K	E	+	1	0	ATP2B3	152468922	1.000000	0.71417	0.960000	0.40013	0.805000	0.45488	9.851000	0.99511	2.074000	0.62210	0.592000	0.82586	GAG		0.537	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	NM_021949		37	63	0	0	0	1	0	37	63				
KDF1	126695	broad.mit.edu	37	1	27278035	27278035	+	Silent	SNP	G	G	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr1:27278035G>A	ENST00000320567.5	-	2	925	c.837C>T	c.(835-837)atC>atT	p.I279I		NM_152365.2	NP_689578.2	Q8NAX2	KDF1_HUMAN		279					developmental growth (GO:0048589)|establishment of skin barrier (GO:0061436)|keratinocyte development (GO:0003334)|limb epidermis development (GO:0060887)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of stem cell proliferation (GO:2000647)|positive regulation of epidermal cell differentiation (GO:0045606)|regulation of epidermal cell division (GO:0010482)	cell cortex (GO:0005938)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		TGATGCTGCTGATAAGGTCCG	0.562																																						ENST00000320567.5																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17						c.(835-837)atC>atT		chromosome 1 open reading frame 172							74.0	61.0	66.0					1																	27278035		2203	4300	6503	SO:0001819	synonymous_variant	126695							g.chr1:27278035G>A																												ENST00000320567.5:c.837C>T	1.37:g.27278035G>A							p.I279I	NM_152365.2	NP_689578.2	Q8NAX2	CA172_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)	2	925	-		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)	279					Q5QP32|Q8N0S7	Silent	SNP	ENST00000320567.5	37	c.837C>T	CCDS293.1																																																																																				0.562	C1orf172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012340.1			14	31	0	0	0	1	0	14	31				
KIAA0586	9786	broad.mit.edu	37	14	58909589	58909589	+	Silent	SNP	G	G	A	rs369143869		TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr14:58909589G>A	ENST00000556134.1	+	6	805	c.531G>A	c.(529-531)ccG>ccA	p.P177P	Y_RNA_ENST00000516389.1_RNA|KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000354386.6_Silent_p.P245P|KIAA0586_ENST00000261244.5_Silent_p.P192P|KIAA0586_ENST00000423743.3_Silent_p.P148P	NM_001244190.1|NM_001244193.1	NP_001231119.1|NP_001231122.1	Q9BVV6	TALD3_HUMAN	KIAA0586	177					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|regulation of establishment of protein localization (GO:0070201)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCGCAGCTCCGTTGATAAAGG	0.403																																						ENST00000423743.3																			0				endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(442-444)ccG>ccA		KIAA0586		A		1,3691		0,1,1845	25.0	27.0	26.0		576	-2.1	1.0	14		26	0,8210		0,0,4105	no	coding-synonymous	KIAA0586	NM_014749.3		0,1,5950	AA,AG,GG		0.0,0.0271,0.0084		192/1473	58909589	1,11901	1846	4105	5951	SO:0001819	synonymous_variant	9786							g.chr14:58909589G>A	AB011158	CCDS45115.1, CCDS58320.1, CCDS58321.1, CCDS58322.1, CCDS73639.1	14q23.1	2012-12-06			ENSG00000100578	ENSG00000100578			19960	protein-coding gene	gene with protein product		610178				16702409	Standard	NM_014749		Approved	Talpid3	uc010trr.2	Q9BVV6	OTTHUMG00000171141	ENST00000556134.1:c.531G>A	14.37:g.58909589G>A						KIAA0586_ENST00000261244.5_Silent_p.P192P|KIAA0586_ENST00000354386.6_Silent_p.P245P|KIAA0586_ENST00000556134.1_Silent_p.P177P|KIAA0586_ENST00000538571.2_3'UTR	p.P148P	NM_001244191.1|NM_001244192.1	NP_001231120.1|NP_001231121.1	E9PGW8	E9PGW8_HUMAN			6	702	+			192					B4DZB6|E7EWM8|J3KQH9|O60328|Q6NYC6|Q6UV20	Silent	SNP	ENST00000556134.1	37	c.444G>A	CCDS58321.1																																																																																				0.403	KIAA0586-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000411887.1	NM_014749		10	21	0	0	0	1	0	10	21				
HCN1	348980	broad.mit.edu	37	5	45303855	45303855	+	Silent	SNP	C	C	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr5:45303855C>T	ENST00000303230.4	-	6	1521	c.1464G>A	c.(1462-1464)ctG>ctA	p.L488L		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	488					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TCAACTTGCTCAGCATGGCAG	0.418																																						ENST00000303230.4																			0				NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						c.(1462-1464)ctG>ctA		hyperpolarization activated cyclic nucleotide-gated potassium channel 1							118.0	119.0	119.0					5																	45303855		2203	4300	6503	SO:0001819	synonymous_variant	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45303855C>T	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1464G>A	5.37:g.45303855C>T							p.L488L	NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN			6	1521	-			488						Silent	SNP	ENST00000303230.4	37	c.1464G>A	CCDS3952.1																																																																																				0.418	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		41	152	0	0	0	1	0	41	152				
ZBTB41	360023	broad.mit.edu	37	1	197128584	197128584	+	Missense_Mutation	SNP	G	G	C			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr1:197128584G>C	ENST00000367405.4	-	10	2703	c.2635C>G	c.(2635-2637)Cta>Gta	p.L879V	ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	879					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						CTAGGATCTAGCATTTGTTCA	0.383																																						ENST00000367405.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						c.(2635-2637)Cta>Gta		zinc finger and BTB domain containing 41							196.0	197.0	197.0					1																	197128584		2203	4299	6502	SO:0001583	missense	360023				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:197128584G>C		CCDS30960.1	1q31.3	2013-01-08			ENSG00000177888	ENSG00000177888		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	24819	protein-coding gene	gene with protein product							Standard	NM_194314		Approved	FRBZ1, FLJ36199, DKFZp686C06120, ZNF924	uc001gtx.1	Q5SVQ8	OTTHUMG00000036275	ENST00000367405.4:c.2635C>G	1.37:g.197128584G>C	ENSP00000356375:p.Leu879Val					ZBTB41_ENST00000467322.1_5'UTR	p.L879V	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN			10	2703	-			879					A2RUA8|Q6MZT8|Q6ZR25|Q7Z4T1|Q8IZ99	Missense_Mutation	SNP	ENST00000367405.4	37	c.2635C>G	CCDS30960.1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.613954	0.46631	.	.	ENSG00000177888	ENST00000367405	T	0.09538	2.97	5.63	4.71	0.59529	.	0.000000	0.33732	N	0.004609	T	0.11879	0.0289	L	0.34521	1.04	0.43766	D	0.996287	D	0.52996	0.957	P	0.47981	0.563	T	0.02385	-1.1167	10	0.87932	D	0	.	8.8469	0.35174	0.2756:0.0:0.7244:0.0	.	879	Q5SVQ8	ZBT41_HUMAN	V	879	ENSP00000356375:L879V	ENSP00000356375:L879V	L	-	1	2	ZBTB41	195395207	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.521000	0.45563	1.373000	0.46208	0.591000	0.81541	CTA		0.383	ZBTB41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088249.2	NM_194314		31	144	0	0	0	1	0	31	144				
ZNF551	90233	broad.mit.edu	37	19	58196690	58196690	+	Missense_Mutation	SNP	G	G	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr19:58196690G>A	ENST00000282296.5	+	2	327	c.142G>A	c.(142-144)Gag>Aag	p.E48K	ZNF551_ENST00000356715.4_Missense_Mutation_p.E32K|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF551_ENST00000596085.1_Missense_Mutation_p.E32K|ZNF551_ENST00000599402.1_Intron			Q7Z340	ZN551_HUMAN	zinc finger protein 551	48	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GCTCCTTGATGAGTCTCAGAG	0.502																																						ENST00000282296.5																			0				endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15						c.(142-144)Gag>Aag		zinc finger protein 551							243.0	210.0	221.0					19																	58196690		2203	4300	6503	SO:0001583	missense	90233				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58196690G>A	BX538151	CCDS12959.1, CCDS12959.2	19q13.43	2013-09-20			ENSG00000204519	ENSG00000204519		"""Zinc fingers, C2H2-type"", ""-"""	25108	protein-coding gene	gene with protein product							Standard	NM_138347		Approved	DKFZp686H1038	uc002qpw.5	Q7Z340	OTTHUMG00000183470	ENST00000282296.5:c.142G>A	19.37:g.58196690G>A	ENSP00000282296:p.Glu48Lys					AC003006.7_ENST00000596085.1_Missense_Mutation_p.E32K|ZNF551_ENST00000356715.4_Missense_Mutation_p.E32K|ZNF551_ENST00000599402.1_Intron|AC003006.7_ENST00000599221.1_Intron	p.E48K	NM_001270938.1	NP_001257867.1	Q7Z340	ZN551_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	2	327	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	48			KRAB.		B4DU22|P17034|Q8N246|Q9BRY1	Missense_Mutation	SNP	ENST00000282296.5	37	c.142G>A	CCDS12959.2	.	.	.	.	.	.	.	.	.	.	G	11.20	1.567665	0.28003	.	.	ENSG00000204519	ENST00000356715;ENST00000282296;ENST00000359821	T	0.01685	4.69	2.17	1.07	0.20283	Krueppel-associated box (4);	.	.	.	.	T	0.05364	0.0142	M	0.65975	2.015	0.09310	N	1	D	0.59357	0.985	D	0.66602	0.945	T	0.39143	-0.9628	9	0.25751	T	0.34	.	3.3653	0.07201	0.1638:0.2804:0.5558:0.0	.	48	Q7Z340	ZN551_HUMAN	K	48;32;20	ENSP00000282296:E32K	ENSP00000282296:E32K	E	+	1	0	ZNF551	62888502	0.000000	0.05858	0.004000	0.12327	0.382000	0.30200	-0.125000	0.10579	0.446000	0.26666	0.462000	0.41574	GAG		0.502	ZNF551-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466803.2	NM_138347		64	144	0	0	0	1	0	64	144				
SEC31A	22872	broad.mit.edu	37	4	83801962	83801962	+	Missense_Mutation	SNP	A	A	G			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr4:83801962A>G	ENST00000395310.2	-	3	375	c.193T>C	c.(193-195)Tct>Cct	p.S65P	SEC31A_ENST00000311785.7_Missense_Mutation_p.S65P|SEC31A_ENST00000448323.1_Missense_Mutation_p.S65P|SEC31A_ENST00000505984.1_Missense_Mutation_p.S65P|SEC31A_ENST00000509142.1_Missense_Mutation_p.S65P|SEC31A_ENST00000513858.1_Missense_Mutation_p.S65P|SEC31A_ENST00000505472.1_Missense_Mutation_p.S65P|SEC31A_ENST00000432794.1_Missense_Mutation_p.S65P|SEC31A_ENST00000355196.2_Missense_Mutation_p.S65P|SEC31A_ENST00000500777.2_Missense_Mutation_p.S65P|SEC31A_ENST00000508502.1_Missense_Mutation_p.S65P|SEC31A_ENST00000508479.1_Missense_Mutation_p.S65P|SEC31A_ENST00000326950.5_Missense_Mutation_p.S65P|SEC31A_ENST00000443462.2_Missense_Mutation_p.S60P|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000348405.4_Missense_Mutation_p.S65P	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	65					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|response to calcium ion (GO:0051592)	COPII vesicle coat (GO:0030127)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|vesicle coat (GO:0030120)	calcium-dependent protein binding (GO:0048306)		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				CTGTGAGAAGAGGAGAATGTG	0.328																																						ENST00000432794.1																		SEC31A/ALK(3)|SEC31A/JAK2(4)	0				breast(1)	1						c.(193-195)Tct>Cct		SEC31 homolog A (S. cerevisiae)							116.0	116.0	116.0					4																	83801962		2203	4300	6503	SO:0001583	missense	22872				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding	g.chr4:83801962A>G	AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"""WD repeat domain containing"""	17052	protein-coding gene	gene with protein product		610257	"""SEC31-like 1 (S. cerevisiae)"", ""Sec31 homolog A (S. cerevisiae)"""	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.193T>C	4.37:g.83801962A>G	ENSP00000378721:p.Ser65Pro					SEC31A_ENST00000505984.1_Missense_Mutation_p.S65P|SEC31A_ENST00000500777.2_Missense_Mutation_p.S65P|SEC31A_ENST00000448323.1_Missense_Mutation_p.S65P|SEC31A_ENST00000443462.2_Missense_Mutation_p.S60P|SEC31A_ENST00000355196.2_Missense_Mutation_p.S65P|SEC31A_ENST00000348405.4_Missense_Mutation_p.S65P|SEC31A_ENST00000395310.2_Missense_Mutation_p.S65P|SEC31A_ENST00000326950.5_Missense_Mutation_p.S65P|SEC31A_ENST00000505472.1_Missense_Mutation_p.S65P|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000508479.1_Missense_Mutation_p.S65P|SEC31A_ENST00000513858.1_Missense_Mutation_p.S65P|SEC31A_ENST00000509142.1_Missense_Mutation_p.S65P|SEC31A_ENST00000311785.7_Missense_Mutation_p.S65P|SEC31A_ENST00000508502.1_Missense_Mutation_p.S65P	p.S65P			O94979	SC31A_HUMAN			3	356	-		Hepatocellular(203;0.114)	65					B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Missense_Mutation	SNP	ENST00000395310.2	37	c.193T>C	CCDS3596.1	.	.	.	.	.	.	.	.	.	.	A	19.36	3.813241	0.70912	.	.	ENSG00000138674	ENST00000348405;ENST00000513858;ENST00000395310;ENST00000443462;ENST00000509142;ENST00000432794;ENST00000448323;ENST00000326950;ENST00000311785;ENST00000505472;ENST00000500777;ENST00000508502;ENST00000355196;ENST00000505984;ENST00000508479;ENST00000514326;ENST00000513323;ENST00000503210;ENST00000505434	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.64618	1.27;1.14;2.28;1.55;1.15;2.17;2.28;1.27;1.15;1.03;1.14;2.28;2.28;2.27;2.2;-0.11;-0.11	4.17	4.17	0.49024	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.74733	0.3755	M	0.64170	1.965	0.80722	D	1	D;D;D;D;D;B;B;D;D	0.89917	0.995;0.998;0.999;0.999;0.997;0.311;0.151;1.0;0.994	D;P;D;D;D;B;B;D;P	0.85130	0.922;0.854;0.994;0.981;0.964;0.213;0.1;0.997;0.885	T	0.75019	-0.3465	10	0.41790	T	0.15	-17.5165	13.3735	0.60726	1.0:0.0:0.0:0.0	.	60;65;65;65;65;65;65;65;65	B4DIW6;B7ZL00;O94979-5;D6RHZ5;O94979-6;O94979-4;O94979-3;O94979-2;O94979	.;.;.;.;.;.;.;.;SC31A_HUMAN	P	65;65;65;60;65;65;65;65;65;65;65;65;65;65;65;65;65;65;65	ENSP00000337602:S65P;ENSP00000426886:S65P;ENSP00000378721:S65P;ENSP00000408027:S60P;ENSP00000426569:S65P;ENSP00000407944:S65P;ENSP00000400926:S65P;ENSP00000325087:S65P;ENSP00000309070:S65P;ENSP00000421633:S65P;ENSP00000421464:S65P;ENSP00000424635:S65P;ENSP00000347329:S65P;ENSP00000424451:S65P;ENSP00000425999:S65P;ENSP00000425555:S65P;ENSP00000426950:S65P	ENSP00000309070:S65P	S	-	1	0	SEC31A	84020986	1.000000	0.71417	0.992000	0.48379	0.920000	0.55202	7.022000	0.76431	1.753000	0.51906	0.377000	0.23210	TCT		0.328	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252640.1	NM_016211		39	81	0	0	0	1	0	39	81				
AHNAK	79026	broad.mit.edu	37	11	62293496	62293496	+	Nonsense_Mutation	SNP	G	G	C	rs536954047		TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr11:62293496G>C	ENST00000378024.4	-	5	8667	c.8393C>G	c.(8392-8394)tCa>tGa	p.S2798*	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2798					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTTCGGTCCTGAGACATCAAT	0.458																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(8392-8394)tCa>tGa		AHNAK nucleoprotein							186.0	183.0	184.0					11																	62293496		2202	4299	6501	SO:0001587	stop_gained	79026				nervous system development	nucleus	protein binding	g.chr11:62293496G>C	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.8393C>G	11.37:g.62293496G>C	ENSP00000367263:p.Ser2798*					AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.S2798*	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	8667	-		Melanoma(852;0.155)	2798					A1A586	Nonsense_Mutation	SNP	ENST00000378024.4	37	c.8393C>G	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	-	48	14.528799	0.99799	.	.	ENSG00000124942	ENST00000378024	.	.	.	3.91	3.91	0.45181	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	15.9018	0.79384	0.0:0.0:1.0:0.0	.	.	.	.	X	2798	.	ENSP00000367263:S2798X	S	-	2	0	AHNAK	62050072	0.031000	0.19500	0.027000	0.17364	0.068000	0.16541	2.148000	0.42235	1.870000	0.54199	0.298000	0.19748	TCA		0.458	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		28	297	0	0	0	1	0	28	297				
SHOC2	8036	broad.mit.edu	37	10	112764471	112764471	+	Silent	SNP	C	C	G			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr10:112764471C>G	ENST00000369452.4	+	5	1425	c.1080C>G	c.(1078-1080)ctC>ctG	p.L360L	SHOC2_ENST00000265277.5_Silent_p.L314L|SHOC2_ENST00000489390.1_3'UTR	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog (C. elegans)	360					fibroblast growth factor receptor signaling pathway (GO:0008543)|positive regulation of Ras protein signal transduction (GO:0046579)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein phosphatase type 1 complex (GO:0000164)	protein phosphatase binding (GO:0019903)|protein phosphatase regulator activity (GO:0019888)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		TCTATTCCCTCAACATGGAAC	0.353																																						ENST00000369452.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17						c.(1078-1080)ctC>ctG		soc-2 suppressor of clear homolog (C. elegans)							89.0	84.0	85.0					10																	112764471		2203	4300	6503	SO:0001819	synonymous_variant	8036				fibroblast growth factor receptor signaling pathway|positive regulation of Ras protein signal transduction|Ras protein signal transduction	nucleus|protein phosphatase type 1 complex	protein phosphatase binding|protein phosphatase regulator activity	g.chr10:112764471C>G	AB020669	CCDS7568.1, CCDS58095.1	10q25	2014-09-17	2001-11-28		ENSG00000108061	ENSG00000108061			15454	protein-coding gene	gene with protein product		602775	"""soc-2 (suppressor of clear, C.elegans) homolog"""			9618511, 9674433, 10783161	Standard	NM_007373		Approved	KIAA0862, SOC2, SUR-8, SOC-2, SUR8	uc001kzl.4	Q9UQ13	OTTHUMG00000019047	ENST00000369452.4:c.1080C>G	10.37:g.112764471C>G						SHOC2_ENST00000265277.5_Silent_p.L314L|SHOC2_ENST00000489390.1_3'UTR	p.L360L	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN		Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)	5	1425	+			360					A8K9W8|B3KR23|O76063|Q5VZS8|Q5VZS9	Silent	SNP	ENST00000369452.4	37	c.1080C>G	CCDS7568.1																																																																																				0.353	SHOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050355.1	NM_007373		5	88	0	0	0	1	0	5	88				
SAPCD2	89958	broad.mit.edu	37	9	139960053	139960053	+	Missense_Mutation	SNP	C	C	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr9:139960053C>T	ENST00000409687.3	-	3	879	c.752G>A	c.(751-753)cGg>cAg	p.R251Q	RP11-229P13.23_ENST00000456356.2_RNA	NM_178448.3	NP_848543.2	Q86UD0	SAPC2_HUMAN	suppressor APC domain containing 2	251						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)											GTCGCGGCCCCGCGCCATCAT	0.637																																						ENST00000409687.3																			0											c.(751-753)cGg>cAg		suppressor APC domain containing 2							85.0	84.0	85.0					9																	139960053		2203	4300	6503	SO:0001583	missense	89958					cytoplasm|nucleus		g.chr9:139960053C>T	BC024299	CCDS7027.2	9q34.3	2012-02-08	2012-02-08	2012-02-08	ENSG00000186193	ENSG00000186193			28055	protein-coding gene	gene with protein product		612057	"""chromosome 9 open reading frame 140"""	C9orf140		12477932	Standard	NM_178448		Approved	p42.3	uc011men.2	Q86UD0	OTTHUMG00000020961	ENST00000409687.3:c.752G>A	9.37:g.139960053C>T	ENSP00000386348:p.Arg251Gln						p.R251Q	NM_178448.3	NP_848543.2	Q86UD0	CI140_HUMAN			3	879	-			251						Missense_Mutation	SNP	ENST00000409687.3	37	c.752G>A	CCDS7027.2	.	.	.	.	.	.	.	.	.	.	C	12.48	1.951215	0.34471	.	.	ENSG00000186193	ENST00000409687	D	0.81499	-1.5	4.44	1.52	0.23074	.	0.091827	0.46442	D	0.000300	T	0.72003	0.3407	L	0.54908	1.71	0.35350	D	0.787256	P	0.35575	0.51	B	0.35182	0.197	T	0.71381	-0.4610	10	0.37606	T	0.19	-27.2491	7.7962	0.29148	0.0:0.7199:0.0:0.2801	.	251	Q86UD0	CI140_HUMAN	Q	251	ENSP00000386348:R251Q	ENSP00000386348:R251Q	R	-	2	0	C9orf140	139079874	0.218000	0.23608	0.036000	0.18154	0.386000	0.30323	1.959000	0.40412	0.512000	0.28257	0.561000	0.74099	CGG		0.637	SAPCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055215.2	NM_178448		38	76	0	0	0	1	0	38	76				
CEMP1	752014	broad.mit.edu	37	16	2580737	2580737	+	Missense_Mutation	SNP	C	C	T	rs202046694		TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr16:2580737C>T	ENST00000567119.1	-	1	672	c.338G>A	c.(337-339)aGg>aAg	p.R113K	AMDHD2_ENST00000302956.4_3'UTR|CEMP1_ENST00000565480.1_Intron|AMDHD2_ENST00000413459.3_Silent_p.L588L|CEMP1_ENST00000382350.1_Missense_Mutation_p.R113K|AMDHD2_ENST00000565570.1_3'UTR|MIR3178_ENST00000581887.1_RNA	NM_001048212.3	NP_001041677.1	Q6PRD7	CEMP1_HUMAN	cementum protein 1	113						cytoplasm (GO:0005737)				lung(1)|skin(1)	2						GAAGAACCACCTGCCTGGGCA	0.632													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19324	0.0		0.0	False		,,,				2504	0.0					ENST00000382350.1																			0				lung(1)|skin(1)	2						c.(337-339)aGg>aAg		cementum protein 1							36.0	40.0	39.0					16																	2580737		1974	4143	6117	SO:0001583	missense	752014					cytoplasm		g.chr16:2580737C>T	AY584596	CCDS42108.1	16p13.3	2006-09-22							32553	protein-coding gene	gene with protein product	"""cementum protein-23"""	611113				16263347	Standard	NM_001048212		Approved	CP-23	uc002cqr.3	Q6PRD7		ENST00000567119.1:c.338G>A	16.37:g.2580737C>T	ENSP00000457380:p.Arg113Lys					AMDHD2_ENST00000565570.1_3'UTR|CEMP1_ENST00000567119.1_Missense_Mutation_p.R113K|AMDHD2_ENST00000413459.3_Silent_p.L588L|AMDHD2_ENST00000302956.4_3'UTR|CEMP1_ENST00000565480.1_Intron	p.R113K			Q6PRD7	CEMP1_HUMAN			1	683	-			113					B2RUY1	Missense_Mutation	SNP	ENST00000567119.1	37	c.338G>A	CCDS42108.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	7.173	0.588076	0.13812	.	.	ENSG00000205923	ENST00000382350	T	0.53857	0.6	1.81	0.409	0.16382	.	.	.	.	.	T	0.36138	0.0956	.	.	.	0.09310	N	1	B	0.23540	0.087	B	0.20384	0.029	T	0.32851	-0.9891	8	0.87932	D	0	.	3.5008	0.07672	0.0:0.6234:0.0:0.3766	.	113	Q6PRD7	CEMP1_HUMAN	K	113	ENSP00000371787:R113K	ENSP00000371787:R113K	R	-	2	0	CEMP1	2520738	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	0.003000	0.13083	0.106000	0.17784	0.462000	0.41574	AGG		0.632	CEMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435686.1	NM_001048212		5	24	0	0	0	1	0	5	24				
CKAP2	26586	broad.mit.edu	37	13	53035910	53035910	+	Missense_Mutation	SNP	A	A	G			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr13:53035910A>G	ENST00000378037.5	+	4	1042	c.952A>G	c.(952-954)Ata>Gta	p.I318V	CKAP2_ENST00000258607.5_Missense_Mutation_p.I317V|CKAP2_ENST00000378034.3_Missense_Mutation_p.I317V|CKAP2_ENST00000490903.1_Missense_Mutation_p.I269V	NM_001098525.1|NM_018204.3	NP_001091995.1|NP_060674.3			cytoskeleton associated protein 2											breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1)	20		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.6e-08)		ATCAAGATCCATAGCATCTGA	0.383																																						ENST00000378037.5																			0				breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1)	20						c.(952-954)Ata>Gta		cytoskeleton associated protein 2							79.0	85.0	83.0					13																	53035910		2203	4300	6503	SO:0001583	missense	26586				apoptosis|cell cycle	centrosome|microtubule|spindle pole		g.chr13:53035910A>G	AF177227	CCDS9435.1, CCDS41893.1, CCDS66557.1, CCDS73578.1	13q14	2014-03-21			ENSG00000136108	ENSG00000136108			1990	protein-coding gene	gene with protein product		611569				9771967	Standard	XM_005266343		Approved	LB1, FLJ10749, se20-10, TMAP	uc001vgv.2	Q8WWK9	OTTHUMG00000016967	ENST00000378037.5:c.952A>G	13.37:g.53035910A>G	ENSP00000367276:p.Ile318Val					CKAP2_ENST00000258607.5_Missense_Mutation_p.I317V|CKAP2_ENST00000490903.1_Missense_Mutation_p.I269V|CKAP2_ENST00000378034.3_Missense_Mutation_p.I317V	p.I318V	NM_001098525.1|NM_018204.3	NP_001091995.1|NP_060674.3	Q8WWK9	CKAP2_HUMAN		GBM - Glioblastoma multiforme(99;2.6e-08)	4	1042	+		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	318						Missense_Mutation	SNP	ENST00000378037.5	37	c.952A>G	CCDS41893.1	.	.	.	.	.	.	.	.	.	.	.	0.066	-1.213125	0.01555	.	.	ENSG00000136108	ENST00000398044;ENST00000258607;ENST00000378034;ENST00000378037;ENST00000490903	T;T;T;T	0.20463	2.39;2.07;2.4;2.39	5.88	0.282	0.15692	.	0.981144	0.08378	N	0.954943	T	0.12475	0.0303	N	0.17474	0.49	0.09310	N	1	B;B;B;B	0.25809	0.135;0.135;0.065;0.037	B;B;B;B	0.27500	0.08;0.08;0.054;0.014	T	0.39881	-0.9592	9	.	.	.	0.7345	8.2246	0.31562	0.5471:0.3839:0.069:0.0	.	269;318;317;318	E9PD90;Q8WWK9;B2RMQ4;A8MYU4	.;CKAP2_HUMAN;.;.	V	318;317;317;318;269	ENSP00000258607:I317V;ENSP00000367273:I317V;ENSP00000367276:I318V;ENSP00000417830:I269V	.	I	+	1	0	CKAP2	51933911	0.000000	0.05858	0.003000	0.11579	0.011000	0.07611	0.277000	0.18734	0.116000	0.18110	0.528000	0.53228	ATA		0.383	CKAP2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355010.2			15	107	0	0	0	1	0	15	107				
FBLN5	10516	broad.mit.edu	37	14	92403509	92403509	+	Missense_Mutation	SNP	C	C	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr14:92403509C>T	ENST00000342058.4	-	4	754	c.161G>A	c.(160-162)cGa>cAa	p.R54Q	FBLN5_ENST00000556154.1_Missense_Mutation_p.R59Q|FBLN5_ENST00000267620.10_Missense_Mutation_p.R95Q	NM_006329.3	NP_006320.2	Q9UBX5	FBLN5_HUMAN	fibulin 5	54	EGF-like 1; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell-matrix adhesion (GO:0007160)|elastic fiber assembly (GO:0048251)|extracellular matrix organization (GO:0030198)|protein localization to cell surface (GO:0034394)|regulation of cell growth (GO:0001558)|regulation of removal of superoxide radicals (GO:2000121)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				CATGTCTCCTCGGCAGGCCTC	0.537																																						ENST00000267620.10																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28						c.(283-285)cGa>cAa		fibulin 5							79.0	72.0	75.0					14																	92403509		2203	4300	6503	SO:0001583	missense	10516				cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding	g.chr14:92403509C>T	AJ133490	CCDS9898.1	14q31	2014-09-17				ENSG00000140092		"""Fibulins"""	3602	protein-coding gene	gene with protein product		604580				10640802	Standard	NM_006329		Approved	EVEC, UP50, DANCE, ARMD3	uc001xzx.4	Q9UBX5		ENST00000342058.4:c.161G>A	14.37:g.92403509C>T	ENSP00000345008:p.Arg54Gln					FBLN5_ENST00000556154.1_Missense_Mutation_p.R59Q|FBLN5_ENST00000342058.4_Missense_Mutation_p.R54Q	p.R95Q			Q9UBX5	FBLN5_HUMAN			5	453	-		all_cancers(154;0.0722)	54					O75966|Q6IAL4|Q6UWA3	Missense_Mutation	SNP	ENST00000342058.4	37	c.284G>A	CCDS9898.1	.	.	.	.	.	.	.	.	.	.	C	34	5.407248	0.96051	.	.	ENSG00000140092	ENST00000267620;ENST00000342058;ENST00000556154;ENST00000554468	D;D;D;D	0.91894	-2.93;-2.93;-2.93;-2.93	5.58	5.58	0.84498	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.93141	0.7816	L	0.28458	0.855	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.998	D;D;D	0.76575	0.982;0.947;0.988	D	0.90334	0.4354	10	0.17369	T	0.5	.	19.5675	0.95401	0.0:1.0:0.0:0.0	.	95;59;54	G3XA98;G3V4U0;Q9UBX5	.;.;FBLN5_HUMAN	Q	95;54;59;54	ENSP00000267620:R95Q;ENSP00000345008:R54Q;ENSP00000451982:R59Q;ENSP00000451486:R54Q	ENSP00000267620:R151Q	R	-	2	0	FBLN5	91473262	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.989000	0.70587	2.640000	0.89533	0.561000	0.74099	CGA		0.537	FBLN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411787.1			24	43	0	0	0	1	0	24	43				
RIOK2	55781	broad.mit.edu	37	5	96503502	96503502	+	Missense_Mutation	SNP	G	G	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr5:96503502G>A	ENST00000283109.3	-	8	1134	c.1066C>T	c.(1066-1068)Cgg>Tgg	p.R356W	CTD-2215E18.1_ENST00000509481.1_Intron|RIOK2_ENST00000508447.1_Missense_Mutation_p.R356W	NM_018343.2	NP_060813.2	Q9BVS4	RIOK2_HUMAN	RIO kinase 2	356	Protein kinase.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R356W(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0657)		AGACAGTTCCGTTCACTTTCA	0.403																																						ENST00000283109.3																			1	Substitution - Missense(1)	p.R356W(1)	large_intestine(1)	breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23						c.(1066-1068)Cgg>Tgg		RIO kinase 2							141.0	139.0	140.0					5																	96503502		2203	4300	6503	SO:0001583	missense	55781						ATP binding|protein serine/threonine kinase activity	g.chr5:96503502G>A	AK002021	CCDS4089.1, CCDS54884.1	5q14	2012-12-10	2012-12-10		ENSG00000058729	ENSG00000058729			18999	protein-coding gene	gene with protein product			"""RIO kinase 2 (yeast)"""				Standard	NM_018343		Approved	FLJ11159	uc003kmz.3	Q9BVS4	OTTHUMG00000128723	ENST00000283109.3:c.1066C>T	5.37:g.96503502G>A	ENSP00000283109:p.Arg356Trp					RIOK2_ENST00000508447.1_Missense_Mutation_p.R356W|CTD-2215E18.1_ENST00000509481.1_Intron	p.R356W	NM_018343.2	NP_060813.2	Q9BVS4	RIOK2_HUMAN		COAD - Colon adenocarcinoma(37;0.0657)	8	1134	-		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)	356			Protein kinase.		D6RDI3|Q9NUT0	Missense_Mutation	SNP	ENST00000283109.3	37	c.1066C>T	CCDS4089.1	.	.	.	.	.	.	.	.	.	.	G	12.25	1.882389	0.33255	.	.	ENSG00000058729	ENST00000283109;ENST00000508447	T;T	0.18657	2.2;2.2	5.25	-3.09	0.05331	.	2.659730	0.00982	N	0.003393	T	0.10551	0.0258	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.32798	-0.9893	10	0.66056	D	0.02	-5.0408	3.5724	0.07922	0.1379:0.4409:0.1585:0.2627	.	356;356	D6RDI3;Q9BVS4	.;RIOK2_HUMAN	W	356	ENSP00000283109:R356W;ENSP00000420932:R356W	ENSP00000283109:R356W	R	-	1	2	RIOK2	96529258	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.395000	0.07287	-0.219000	0.10003	0.585000	0.79938	CGG		0.403	RIOK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250628.1	NM_018343		46	88	0	0	0	1	0	46	88				
HEATR9	256957	broad.mit.edu	37	17	34186002	34186002	+	Missense_Mutation	SNP	C	C	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr17:34186002C>T	ENST00000311880.2	-	9	977	c.829G>A	c.(829-831)Gca>Aca	p.A277T	C17orf66_ENST00000592980.1_Missense_Mutation_p.A237T	NM_152781.2	NP_689994.2	A2RTY3	HEAT9_HUMAN		277					hematopoietic progenitor cell differentiation (GO:0002244)					breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		TCCAGAGATGCTTCACTGGAC	0.552																																						ENST00000311880.2																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38						c.(829-831)Gca>Aca		chromosome 17 open reading frame 66							97.0	77.0	84.0					17																	34186002		2203	4300	6503	SO:0001583	missense	256957						binding	g.chr17:34186002C>T																												ENST00000311880.2:c.829G>A	17.37:g.34186002C>T	ENSP00000309560:p.Ala277Thr					C17orf66_ENST00000592980.1_Missense_Mutation_p.A237T	p.A277T	NM_152781.2	NP_689994.2	A2RTY3	CQ066_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)	9	977	-		Ovarian(249;0.17)	277					B4DX21|B4DXA4|B4DXF0|Q8N4R4|Q96M46	Missense_Mutation	SNP	ENST00000311880.2	37	c.829G>A	CCDS11299.1	.	.	.	.	.	.	.	.	.	.	C	17.87	3.494275	0.64186	.	.	ENSG00000172653	ENST00000311880	T	0.47869	0.83	4.05	2.02	0.26589	Armadillo-like helical (1);Armadillo-type fold (1);	0.969700	0.08427	N	0.947545	T	0.39172	0.1068	L	0.29908	0.895	0.09310	N	1	P;P;P	0.50156	0.932;0.932;0.888	P;B;P	0.46758	0.526;0.424;0.459	T	0.18366	-1.0339	10	0.34782	T	0.22	.	6.2783	0.20993	0.0:0.7665:0.0:0.2335	.	243;237;277	A2RTY3-4;A2RTY3-3;A2RTY3	.;.;CQ066_HUMAN	T	277	ENSP00000309560:A277T	ENSP00000309560:A277T	A	-	1	0	C17orf66	31210115	0.000000	0.05858	0.006000	0.13384	0.959000	0.62525	-0.049000	0.11924	0.476000	0.27440	0.305000	0.20034	GCA		0.552	C17orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256487.1			14	56	0	0	0	1	0	14	56				
FAM21C	253725	broad.mit.edu	37	10	46222968	46222968	+	Nonsense_Mutation	SNP	C	C	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr10:46222968C>A	ENST00000336378.4	+	2	225	c.107C>A	c.(106-108)tCg>tAg	p.S36*	FAM21C_ENST00000540872.1_Nonsense_Mutation_p.S36*|FAM21FP_ENST00000608637.1_RNA|FAM21C_ENST00000374362.2_Nonsense_Mutation_p.S36*|FAM21C_ENST00000537517.1_Nonsense_Mutation_p.S36*|FAM21C_ENST00000359860.4_Nonsense_Mutation_p.S35*	NM_015262.2	NP_056077.2	Q9Y4E1	FA21C_HUMAN	family with sequence similarity 21, member C	36					retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome (GO:0005768)|plasma membrane (GO:0005886)|WASH complex (GO:0071203)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						CAGAGCTGGTCGCTGGCGGCC	0.761																																						ENST00000336378.4																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(106-108)tCg>tAg		family with sequence similarity 21, member C							5.0	7.0	7.0					10																	46222968		1721	3878	5599	SO:0001587	stop_gained	253725							g.chr10:46222968C>A		CCDS44374.1, CCDS44374.2, CCDS53528.1, CCDS53529.1	10q11.22	2014-05-09			ENSG00000172661	ENSG00000172661			23414	protein-coding gene	gene with protein product		613631				20498093	Standard	NM_015262		Approved	Em:AC012044.3, KIAA0592	uc001jcu.3	Q9Y4E1	OTTHUMG00000018089	ENST00000336378.4:c.107C>A	10.37:g.46222968C>A	ENSP00000337541:p.Ser36*					FAM21C_ENST00000537517.1_Nonsense_Mutation_p.S36*|FAM21C_ENST00000540872.1_Nonsense_Mutation_p.S36*|FAM21C_ENST00000374362.2_Nonsense_Mutation_p.S36*|FAM21C_ENST00000359860.4_Nonsense_Mutation_p.S35*	p.S36*	NM_015262.2	NP_056077.2	A8K5W5	A8K5W5_HUMAN			2	225	+			36					B4DZQ6|B9EK53|F5H0J6|F5H871|Q5SQU4|Q5SQU5|Q7L521|Q9UG79	Nonsense_Mutation	SNP	ENST00000336378.4	37	c.107C>A		.	.	.	.	.	.	.	.	.	.	C	38	6.753564	0.97813	.	.	ENSG00000172661	ENST00000336378;ENST00000540872;ENST00000537517;ENST00000374362;ENST00000399588;ENST00000359860;ENST00000420848	.	.	.	4.2	4.2	0.49525	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.312	14.0837	0.64942	0.0:1.0:0.0:0.0	.	.	.	.	X	36;36;36;36;36;35;36	.	ENSP00000337541:S36X	S	+	2	0	FAM21C	45542974	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	6.158000	0.71851	2.153000	0.67306	0.563000	0.77884	TCG		0.761	FAM21C-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				3	23	1	0	0.004672	1	0.00479224	3	23				
HIST1H2BJ	8970	broad.mit.edu	37	6	27100220	27100220	+	Missense_Mutation	SNP	G	G	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr6:27100220G>A	ENST00000607124.1	-	1	309	c.310C>T	c.(310-312)Cct>Tct	p.P104S	HIST1H2BJ_ENST00000339812.2_Missense_Mutation_p.P104S|HIST1H2BJ_ENST00000541790.1_Missense_Mutation_p.P104S|HIST1H2AG_ENST00000359193.2_5'Flank			P06899	H2B1J_HUMAN	histone cluster 1, H2bj	104					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|kidney(2)|lung(5)|ovary(1)|prostate(1)	10						AACTCCCCAGGCAGCAGCAGG	0.602																																						ENST00000607124.1																			0				breast(1)|kidney(2)|lung(5)|ovary(1)|prostate(1)	10						c.(310-312)Cct>Tct		histone cluster 1, H2bj							80.0	82.0	82.0					6																	27100220		2203	4300	6503	SO:0001583	missense	8970				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27100220G>A	X00088	CCDS4618.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000124635	ENSG00000124635		"""Histones / Replication-dependent"""	4761	protein-coding gene	gene with protein product		615044	"""H2B histone family, member R"", ""histone 1, H2bj"""	H2BFR		6647026, 12408966	Standard	NM_021058		Approved	H2B/r	uc003niv.3	P06899	OTTHUMG00000014470	ENST00000607124.1:c.310C>T	6.37:g.27100220G>A	ENSP00000476136:p.Pro104Ser					HIST1H2BJ_ENST00000339812.2_Missense_Mutation_p.P104S|HIST1H2BJ_ENST00000541790.1_Missense_Mutation_p.P104S	p.P104S			P06899	H2B1J_HUMAN			1	309	-			104					B2R4J4|O60816	Missense_Mutation	SNP	ENST00000607124.1	37	c.310C>T	CCDS4618.1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.363150	0.61513	.	.	ENSG00000124635	ENST00000541790;ENST00000339812	T;T	0.60548	0.18;0.18	4.06	4.06	0.47325	Histone-fold (2);	0.000000	0.43747	U	0.000526	T	0.79381	0.4436	H	0.95504	3.68	0.53688	D	0.999977	D	0.89917	1.0	D	0.79108	0.992	D	0.85776	0.1358	10	0.87932	D	0	.	14.5496	0.68057	0.0:0.0:1.0:0.0	.	104	P06899	H2B1J_HUMAN	S	104	ENSP00000445633:P104S;ENSP00000342886:P104S	ENSP00000342886:P104S	P	-	1	0	HIST1H2BJ	27208199	1.000000	0.71417	1.000000	0.80357	0.219000	0.24729	6.815000	0.75242	2.210000	0.71456	0.585000	0.79938	CCT		0.602	HIST1H2BJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040138.2	NM_021058		54	103	0	0	0	1	0	54	103				
LRRN3	54674	broad.mit.edu	37	7	110763396	110763396	+	Missense_Mutation	SNP	C	C	G			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr7:110763396C>G	ENST00000422987.3	+	2	1399	c.568C>G	c.(568-570)Cta>Gta	p.L190V	IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000415362.1_Intron|LRRN3_ENST00000451085.1_Missense_Mutation_p.L190V|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000489381.1_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.L190V|IMMP2L_ENST00000450877.1_Intron	NM_018334.4	NP_060804.3	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	190					positive regulation of protein phosphorylation (GO:0001934)	clathrin adaptor complex (GO:0030131)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		TCTTCCAAATCTAGAGATTCT	0.373																																						ENST00000451085.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55						c.(568-570)Cta>Gta		leucine rich repeat neuronal 3							65.0	68.0	67.0					7																	110763396		2203	4299	6502	SO:0001583	missense	54674					integral to membrane		g.chr7:110763396C>G	AB060967	CCDS5754.1	7q31.1	2013-02-11			ENSG00000173114	ENSG00000173114		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17200	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 5"""					11549284	Standard	NM_001099660		Approved	NLRR3, FLJ11129, FIGLER5	uc003vfs.4	Q9H3W5	OTTHUMG00000155039	ENST00000422987.3:c.568C>G	7.37:g.110763396C>G	ENSP00000412417:p.Leu190Val					LRRN3_ENST00000308478.5_Missense_Mutation_p.L190V|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000437687.1_Intron|LRRN3_ENST00000422987.3_Missense_Mutation_p.L190V|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000452895.1_Intron	p.L190V	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)	4	1614	+			190					O43377|Q6I9V8|Q8IYQ6	Missense_Mutation	SNP	ENST00000422987.3	37	c.568C>G	CCDS5754.1	.	.	.	.	.	.	.	.	.	.	C	15.15	2.749341	0.49257	.	.	ENSG00000173114	ENST00000308478;ENST00000451085;ENST00000422987;ENST00000421101	T;T;T;T	0.51574	0.7;0.7;0.7;3.0	6.16	4.38	0.52667	.	0.000000	0.46145	D	0.000309	T	0.68284	0.2984	M	0.92784	3.345	0.46564	D	0.9991	P	0.49783	0.928	P	0.53035	0.716	T	0.75722	-0.3218	10	0.72032	D	0.01	.	12.6358	0.56683	0.0:0.8683:0.0:0.1317	.	190	Q9H3W5	LRRN3_HUMAN	V	190	ENSP00000312001:L190V;ENSP00000397312:L190V;ENSP00000412417:L190V;ENSP00000407927:L190V	ENSP00000312001:L190V	L	+	1	2	LRRN3	110550632	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	2.193000	0.42658	0.947000	0.37659	0.650000	0.86243	CTA		0.373	LRRN3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338171.2	NM_018334		27	82	0	0	0	1	0	27	82				
SHQ1	55164	broad.mit.edu	37	3	72890271	72890271	+	Silent	SNP	T	T	C			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr3:72890271T>C	ENST00000325599.8	-	4	550	c.411A>G	c.(409-411)gtA>gtG	p.V137V	SHQ1_ENST00000463369.1_Silent_p.V109V	NM_018130.2	NP_060600.2	Q6PI26	SHQ1_HUMAN	SHQ1, H/ACA ribonucleoprotein assembly factor	137					negative regulation of rRNA processing (GO:2000233)|positive regulation of apoptotic process (GO:0043065)|ribonucleoprotein complex assembly (GO:0022618)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)		CACTTTCTGATACCTCTTCAC	0.408																																						ENST00000325599.8																			0				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27						c.(409-411)gtA>gtG		SHQ1, H/ACA ribonucleoprotein assembly factor							157.0	144.0	148.0					3																	72890271		2203	4300	6503	SO:0001819	synonymous_variant	55164				ribonucleoprotein complex assembly	cytosol|nucleoplasm	protein binding	g.chr3:72890271T>C	BC025270	CCDS33788.1	3p13	2013-01-08	2013-01-08		ENSG00000144736	ENSG00000144736			25543	protein-coding gene	gene with protein product		613663	"""SHQ1 homolog (S. cerevisiae)"""			12477932	Standard	NM_018130		Approved	FLJ10539, Shq1p	uc003dpf.3	Q6PI26	OTTHUMG00000158814	ENST00000325599.8:c.411A>G	3.37:g.72890271T>C						SHQ1_ENST00000463369.1_Silent_p.V109V	p.V137V	NM_018130.2	NP_060600.2	Q6PI26	SHQ1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)	4	550	-		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)	137					B4DL05|Q6MZJ4|Q7Z748|Q9H7E5|Q9NVS8	Silent	SNP	ENST00000325599.8	37	c.411A>G	CCDS33788.1																																																																																				0.408	SHQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352310.1	NM_018130		36	44	0	0	0	1	0	36	44				
ZNF583	147949	broad.mit.edu	37	19	56935034	56935034	+	Missense_Mutation	SNP	G	G	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr19:56935034G>T	ENST00000333201.9	+	5	1217	c.1007G>T	c.(1006-1008)gGt>gTt	p.G336V	ZNF583_ENST00000585612.1_3'UTR|ZNF583_ENST00000291598.7_Missense_Mutation_p.G336V	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	336					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		TTTAGTAATGGTTCATTTCTT	0.423																																						ENST00000333201.9																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26						c.(1006-1008)gGt>gTt		zinc finger protein 583							126.0	133.0	131.0					19																	56935034		2203	4300	6503	SO:0001583	missense	147949				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56935034G>T	AK055592	CCDS12943.1	19q13.43	2013-09-20			ENSG00000198440	ENSG00000198440		"""Zinc fingers, C2H2-type"", ""-"""	26427	protein-coding gene	gene with protein product							Standard	NM_152478		Approved	FLJ31030	uc010ygl.1	Q96ND8	OTTHUMG00000168874	ENST00000333201.9:c.1007G>T	19.37:g.56935034G>T	ENSP00000388502:p.Gly336Val					ZNF583_ENST00000585612.1_3'UTR|ZNF583_ENST00000291598.7_Missense_Mutation_p.G336V	p.G336V	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN		GBM - Glioblastoma multiforme(193;0.0564)	5	1217	+		Colorectal(82;0.000256)|Ovarian(87;0.243)	336					O14850|Q2NKK3	Missense_Mutation	SNP	ENST00000333201.9	37	c.1007G>T	CCDS12943.1	.	.	.	.	.	.	.	.	.	.	G	9.488	1.099950	0.20552	.	.	ENSG00000198440	ENST00000291598;ENST00000333201	T;T	0.07444	3.19;3.19	4.33	2.01	0.26516	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45606	D	0.000357	T	0.09423	0.0232	N	0.13235	0.315	0.09310	N	0.999993	D	0.63046	0.992	D	0.64595	0.927	T	0.17048	-1.0382	9	.	.	.	.	5.2755	0.15647	0.1874:0.0:0.6481:0.1646	.	336	Q96ND8	ZN583_HUMAN	V	336	ENSP00000291598:G336V;ENSP00000388502:G336V	.	G	+	2	0	ZNF583	61626846	0.000000	0.05858	0.001000	0.08648	0.996000	0.88848	-1.413000	0.02473	1.176000	0.42840	0.462000	0.41574	GGT		0.423	ZNF583-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401453.1	NM_152478		22	62	1	0	0.00229938	1	0.00237602	22	62				
RPL10A	4736	broad.mit.edu	37	6	35436775	35436775	+	Silent	SNP	G	G	A	rs370449510		TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr6:35436775G>A	ENST00000322203.6	+	3	159	c.132G>A	c.(130-132)caG>caA	p.Q44Q	RPL10A_ENST00000467020.1_3'UTR	NM_007104.4	NP_009035.3	P62906	RL10A_HUMAN	ribosomal protein L10a	44					anatomical structure morphogenesis (GO:0009653)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|large_intestine(2)|ovary(1)	4						ATGATCCCCAGAAGGACAAGC	0.652																																						ENST00000322203.6																			0				breast(1)|large_intestine(2)|ovary(1)	4						c.(130-132)caG>caA		ribosomal protein L10a		G		1,4405	2.1+/-5.4	0,1,2202	38.0	37.0	37.0		132	3.8	1.0	6		37	0,8600		0,0,4300	no	coding-synonymous	RPL10A	NM_007104.4		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		44/218	35436775	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4736				anatomical structure morphogenesis|endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	RNA binding|structural constituent of ribosome	g.chr6:35436775G>A	U12404	CCDS4806.1	6p21.31	2011-04-06			ENSG00000198755	ENSG00000198755		"""L ribosomal proteins"""	10299	protein-coding gene	gene with protein product		615660		NEDD6		7609734, 9647638	Standard	NM_007104		Approved	Csa-19, L10A	uc003okp.1	P62906	OTTHUMG00000014566	ENST00000322203.6:c.132G>A	6.37:g.35436775G>A						RPL10A_ENST00000467020.1_3'UTR	p.Q44Q	NM_007104.4	NP_009035.3	P62906	RL10A_HUMAN			3	159	+			44					B2R801|P52859|P53025|Q5TZT6|Q8J013	Silent	SNP	ENST00000322203.6	37	c.132G>A	CCDS4806.1																																																																																				0.652	RPL10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040283.1	NM_007104		12	38	0	0	0	1	0	12	38				
PRAMEF11	440560	broad.mit.edu	37	1	12887527	12887527	+	Silent	SNP	A	A	G	rs2486716	byFrequency	TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr1:12887527A>G	ENST00000535591.1	-	3	525	c.330T>C	c.(328-330)ttT>ttC	p.F110F		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	110					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.F110F(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						AAAGTTCTACAAACACAGTCA	0.498													.|||	20	0.00399361	0.0023	0.0	5008	,	,		19220	0.0089		0.002	False		,,,				2504	0.0061					ENST00000535591.1																			1	Substitution - coding silent(1)	p.F110F(1)	endometrium(1)	NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						c.(328-330)ttT>ttC		PRAME family member 11																																				SO:0001819	synonymous_variant	440560							g.chr1:12887527A>G	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.330T>C	1.37:g.12887527A>G							p.F110F	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN			3	525	-			110						Silent	SNP	ENST00000535591.1	37	c.330T>C	CCDS53268.1																																																																																				0.498	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		13	267	0	0	0	1	0	13	267				
FAT4	79633	broad.mit.edu	37	4	126238943	126238943	+	Silent	SNP	A	A	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr4:126238943A>T	ENST00000394329.3	+	1	1390	c.1377A>T	c.(1375-1377)gcA>gcT	p.A459A		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	459	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CTTCTGTGGCAAGCCTGGTGA	0.567											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(1375-1377)gcA>gcT		FAT atypical cadherin 4							43.0	46.0	45.0					4																	126238943		2092	4226	6318	SO:0001819	synonymous_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126238943A>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.1377A>T	4.37:g.126238943A>T			OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1548		p.A459A	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			1	1390	+			459			Cadherin 4.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	c.1377A>T	CCDS3732.3																																																																																				0.567	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		5	47	0	0	0	1	0	5	47				
PEG3	5178	broad.mit.edu	37	19	57328508	57328508	+	Silent	SNP	G	G	C			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr19:57328508G>C	ENST00000326441.9	-	10	1665	c.1302C>G	c.(1300-1302)ctC>ctG	p.L434L	ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000593695.1_Silent_p.L308L|PEG3_ENST00000598410.1_Silent_p.L310L|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000423103.2_Silent_p.L434L	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	434					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AGGGGGAGCTGAGGCTGCTCA	0.502																																						ENST00000326441.9																			0				NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170						c.(1300-1302)ctC>ctG		paternally expressed 3							163.0	154.0	157.0					19																	57328508		2203	4300	6503	SO:0001819	synonymous_variant	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57328508G>C	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.1302C>G	19.37:g.57328508G>C						ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Silent_p.L434L|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000593695.1_Silent_p.L308L|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000598410.1_Silent_p.L310L|ZIM2_ENST00000221722.5_Intron	p.L434L	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	10	1665	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	434					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Silent	SNP	ENST00000326441.9	37	c.1302C>G	CCDS12948.1																																																																																				0.502	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			49	116	0	0	0	1	0	49	116				
PLPPR4	9890	broad.mit.edu	37	1	99730036	99730036	+	Frame_Shift_Del	DEL	G	G	-			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr1:99730036delG	ENST00000370185.3	+	1	528	c.31delG	c.(31-33)gggfs	p.G11fs	LPPR4_ENST00000457765.1_Frame_Shift_Del_p.G11fs	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		11					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		CGGTGGCCGCGGGGAATGTGA	0.716																																						ENST00000370185.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72						c.(31-33)ggfs									4.0	5.0	5.0					1																	99730036		2045	4022	6067	SO:0001589	frameshift_variant	9890						phosphatidate phosphatase activity	g.chr1:99730036delG																												ENST00000370185.3:c.31delG	1.37:g.99730036delG	ENSP00000359204:p.Gly11fs					LPPR4_ENST00000457765.1_Frame_Shift_Del_p.G11fs	p.G11fs	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)	1	528	+		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)	11					E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Frame_Shift_Del	DEL	ENST00000370185.3	37	c.31delG	CCDS757.1																																																																																				0.716	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2			2	4						2	4	---	---	---	---
RP11-423O2.5	0	broad.mit.edu	37	1	142803276	142803278	+	lincRNA	DEL	AAC	AAC	-	rs140309984|rs145869340		TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr1:142803276_142803278delAAC	ENST00000423385.1	-	0	1687_1689																											ACCAAACCAAaacaacaacaaca	0.345																																						ENST00000423385.1																			0																																																			0							g.chr1:142803276_142803278delAAC																													1.37:g.142803285_142803287delAAC														0	1687_1689	-									RNA	DEL	ENST00000423385.1	37																																																																																						0.345	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1			3	6						3	6	---	---	---	---
LOC101927533	101927533	broad.mit.edu	37	2	65738862	65738863	+	lincRNA	DEL	TG	TG	-	rs373784983|rs377731020|rs369932162		TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr2:65738862_65738863delTG	ENST00000377977.3	+	0	862																											TTTTTTTTTTTGTCCAGGAGGC	0.302																																						ENST00000377977.3																			0																																																			101927533							g.chr2:65738862_65738863delTG																													2.37:g.65738862_65738863delTG														0	862	+									RNA	DEL	ENST00000377977.3	37																																																																																						0.302	AC074391.1-010	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000470883.1			2	4						2	4	---	---	---	---
SETD2	29072	broad.mit.edu	37	3	47144912	47144917	+	Splice_Site	DEL	ATCTGG	ATCTGG	-			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr3:47144912_47144917delATCTGG	ENST00000409792.3	-	7	4882_4883	c.4840_4841delCCAGAT	c.(4840-4842)cca>a	p.P1614del		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1614	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		GGCATCTATTATCTGGGAGAAGAGGA	0.316			"""N, F, S, Mis"""		clear cell renal carcinoma																																	ENST00000409792.3				Rec	yes		3	3p21.31	29072	"""N, F, S, Mis"""	SET domain containing 2			E			clear cell renal carcinoma		0				breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141						c.e7-1		SET domain containing 2																																				SO:0001630	splice_region_variant	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47144912_47144917delATCTGG	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.4840-1CCAGAT>-	3.37:g.47144912_47144917delATCTGG							p.1614_splice	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	7	4882_4883	-		Acute lymphoblastic leukemia(5;0.0169)	1614			SET.		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Splice_Site	DEL	ENST00000409792.3	37	c.4839_splice	CCDS2749.2																																																																																				0.316	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159	In_Frame_Del	22	77						22	77	---	---	---	---
COL6A6	131873	broad.mit.edu	37	3	130368102	130368102	+	Frame_Shift_Del	DEL	G	G	-			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr3:130368102delG	ENST00000358511.6	+	32	5460	c.5429delG	c.(5428-5430)aggfs	p.R1810fs	COL6A6_ENST00000453409.2_Frame_Shift_Del_p.R1810fs	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1810	Nonhelical region.|VWFA 8. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TCCCACGCCAGGCACCTTGTG	0.527																																						ENST00000358511.6																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(5428-5430)agfs		collagen, type VI, alpha 6							34.0	34.0	34.0					3																	130368102		1925	4129	6054	SO:0001589	frameshift_variant	131873				axon guidance|cell adhesion	collagen		g.chr3:130368102delG	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.5429delG	3.37:g.130368102delG	ENSP00000351310:p.Arg1810fs					COL6A6_ENST00000453409.2_Frame_Shift_Del_p.R1810fs	p.R1810fs	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN			32	5460	+			1810			Nonhelical region.|VWFA 8.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Frame_Shift_Del	DEL	ENST00000358511.6	37	c.5429delG	CCDS46911.1																																																																																				0.527	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		7	16						7	16	---	---	---	---
NAALADL2	254827	broad.mit.edu	37	3	174815058	174815068	+	Frame_Shift_Del	DEL	AGAAGATATTA	AGAAGATATTA	-			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr3:174815058_174815068delAGAAGATATTA	ENST00000454872.1	+	2	650_660	c.522_532delAGAAGATATTA	c.(520-534)gcagaagatattaagfs	p.EDIK175fs	NAALADL2-AS3_ENST00000453180.1_RNA|NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	175						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		CAATCCAGGCAGAAGATATTAAGAAGTCTTT	0.374																																						ENST00000454872.1																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49						c.(520-534)gcagfs		N-acetylated alpha-linked acidic dipeptidase-like 2																																				SO:0001589	frameshift_variant	254827				proteolysis	integral to membrane	peptidase activity	g.chr3:174815058_174815068delAGAAGATATTA		CCDS46960.1	3q26.3	2011-08-16			ENSG00000177694	ENSG00000177694			23219	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase II-type non-peptidase homologue"""	608806				15168106	Standard	NM_207015		Approved		uc003fir.3	Q58DX5	OTTHUMG00000157120	ENST00000454872.1:c.522_532delAGAAGATATTA	3.37:g.174815058_174815068delAGAAGATATTA	ENSP00000404705:p.Glu175fs					NAALADL2_ENST00000473253.1_3'UTR|NAALADL2-AS3_ENST00000453180.1_RNA	p.AEDIK174fs	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)	2	650_660	+	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	174					Q658X9|Q6H9J8|Q6H9J9|Q6PG38	Frame_Shift_Del	DEL	ENST00000454872.1	37	c.522_532delAGAAGATATTA	CCDS46960.1																																																																																				0.374	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347390.2	NM_207015		17	145						17	145	---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187522473	187522490	+	In_Frame_Del	DEL	TGGAATATGTTCTGAGCC	TGGAATATGTTCTGAGCC	-	rs79448797		TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr4:187522473_187522490delTGGAATATGTTCTGAGCC	ENST00000441802.2	-	21	11782_11799	c.11573_11590delGGCTCAGAACATATTCCA	c.(11572-11592)aggctcagaacatattccacg>acg	p.RLRTYS3858del	FAT1_ENST00000512347.1_5'Flank	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3858	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ACCGCATGCGTGGAATATGTTCTGAGCCTCATGGTCAG	0.427										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(11572-11592)acg>a		FAT atypical cadherin 1																																				SO:0001651	inframe_deletion	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187522473_187522490delTGGAATATGTTCTGAGCC	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.11573_11590delGGCTCAGAACATATTCCA	4.37:g.187522473_187522490delTGGAATATGTTCTGAGCC	ENSP00000406229:p.Arg3858_Ser3863del	HNSCC(5;0.00058)					p.RLRTYST3858del	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			21	11782_11799	-			3858			Laminin G-like.			In_Frame_Del	DEL	ENST00000441802.2	37	c.11573_11590delGGCTCAGAACATATTCCA	CCDS47177.1																																																																																				0.427	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		11	35						11	35	---	---	---	---
TPBG	7162	broad.mit.edu	37	6	83074698	83074698	+	Frame_Shift_Del	DEL	G	G	-			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr6:83074698delG	ENST00000369750.3	+	2	637	c.20delG	c.(19-21)cggfs	p.R7fs	TPBG_ENST00000535040.1_Frame_Shift_Del_p.R7fs|TPBG_ENST00000543496.1_Frame_Shift_Del_p.R7fs			Q13641	TPBG_HUMAN	trophoblast glycoprotein	7					cell adhesion (GO:0007155)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15		all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897)		BRCA - Breast invasive adenocarcinoma(397;0.107)		GGGTGCTcccggggccccgcc	0.766																																						ENST00000369750.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15						c.(19-21)cgfs		trophoblast glycoprotein							11.0	11.0	11.0					6																	83074698		1969	3857	5826	SO:0001589	frameshift_variant	7162				cell adhesion	integral to plasma membrane		g.chr6:83074698delG	AJ012159	CCDS4995.1	6q14-q15	2008-07-29			ENSG00000146242	ENSG00000146242			12004	protein-coding gene	gene with protein product		190920				8132670	Standard	NM_006670		Approved	5T4-AG, 5T4	uc003pjo.3	Q13641	OTTHUMG00000015103	ENST00000369750.3:c.20delG	6.37:g.83074698delG	ENSP00000358765:p.Arg7fs					TPBG_ENST00000543496.1_Frame_Shift_Del_p.R7fs|TPBG_ENST00000535040.1_Frame_Shift_Del_p.R7fs	p.R7fs			Q13641	TPBG_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.107)	2	637	+		all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897)	7					A8K555	Frame_Shift_Del	DEL	ENST00000369750.3	37	c.20delG	CCDS4995.1																																																																																				0.766	TPBG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041340.1			2	4						2	4	---	---	---	---
ZNF367	195828	broad.mit.edu	37	9	99180258	99180259	+	In_Frame_Ins	INS	-	-	GGC	rs553637829	byFrequency	TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr9:99180258_99180259insGGC	ENST00000375256.4	-	1	352_353	c.56_57insGCC	c.(55-57)ccc>ccGCCc	p.19_19P>PP		NM_153695.3	NP_710162.1	Q7RTV3	ZN367_HUMAN	zinc finger protein 367	19	Pro-rich.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(4)|large_intestine(3)|lung(3)|prostate(1)	12		Acute lymphoblastic leukemia(62;0.0167)				AGAAGATGACGggcggcggcgg	0.752														27	0.00539137	0.0008	0.0029	5008	,	,		10525	0.0		0.0219	False		,,,				2504	0.002					ENST00000375256.4																			0				cervix(1)|endometrium(4)|large_intestine(3)|lung(3)|prostate(1)	12						c.(55-57)cgt>cGCCgt		zinc finger protein 367																																				SO:0001652	inframe_insertion	195828				regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:99180258_99180259insGGC	AK091289	CCDS6718.1	9q22	2008-05-02			ENSG00000165244	ENSG00000165244		"""Zinc fingers, C2H2-type"""	18320	protein-coding gene	gene with protein product		610160					Standard	NM_153695		Approved	FLJ33970	uc004awf.3	Q7RTV3	OTTHUMG00000020295	ENST00000375256.4:c.54_56dupGCC	9.37:g.99180265_99180267dupGGC	ENSP00000364405:p.Pro19dup						p.19_19R>RR	NM_153695.3	NP_710162.1	Q7RTV3	ZN367_HUMAN			1	352_353	-		Acute lymphoblastic leukemia(62;0.0167)	19			Pro-rich.		Q6Q7C8	In_Frame_Ins	INS	ENST00000375256.4	37	c.56_57insGCC	CCDS6718.1																																																																																				0.752	ZNF367-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053266.1			7	12						7	12	---	---	---	---
AHNAK	79026	broad.mit.edu	37	11	62291072	62291086	+	In_Frame_Del	DEL	TTCACTTTGGGCATC	TTCACTTTGGGCATC	-	rs145179465		TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr11:62291072_62291086delTTCACTTTGGGCATC	ENST00000378024.4	-	5	11077_11091	c.10803_10817delGATGCCCAAAGTGAA	c.(10801-10818)aagatgcccaaagtgaaa>aaa	p.3601_3606KMPKVK>K	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3601					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTTGGGCATTTTCACTTTGGGCATCTTCAGATGCC	0.488																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(10801-10818)aaa>aa		AHNAK nucleoprotein																																				SO:0001651	inframe_deletion	79026				nervous system development	nucleus	protein binding	g.chr11:62291072_62291086delTTCACTTTGGGCATC	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.10803_10817delGATGCCCAAAGTGAA	11.37:g.62291072_62291086delTTCACTTTGGGCATC	ENSP00000367263:p.Lys3601_Val3605del					AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.KMPKVK3601del	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	11077_11091	-		Melanoma(852;0.155)	3601					A1A586	In_Frame_Del	DEL	ENST00000378024.4	37	c.10803_10817delGATGCCCAAAGTGAA	CCDS31584.1																																																																																				0.488	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		92	391						92	391	---	---	---	---
KIAA1377	57562	broad.mit.edu	37	11	101834519	101834525	+	Frame_Shift_Del	DEL	ATCCGTC	ATCCGTC	-	rs370774279		TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr11:101834519_101834525delATCCGTC	ENST00000263468.8	+	6	3023_3029	c.2753_2759delATCCGTC	c.(2752-2760)tatccgtctfs	p.YPS918fs	KIAA1377_ENST00000537689.1_Frame_Shift_Del_p.YPS719fs	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	918								p.P919P(1)		breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		GAAGAAAGTTATCCGTCTGTGACTCTA	0.396																																						ENST00000263468.8																			1	Substitution - coding silent(1)	p.P919P(1)	lung(1)	breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53						c.(2752-2760)ttfs		KIAA1377																																				SO:0001589	frameshift_variant	57562						protein binding	g.chr11:101834519_101834525delATCCGTC	AK095004	CCDS31658.1	11q22.2	2006-02-03			ENSG00000110318	ENSG00000110318			29264	protein-coding gene	gene with protein product		614634				10718198	Standard	XM_005271627		Approved		uc001pgm.3	Q9P2H0	OTTHUMG00000167319	ENST00000263468.8:c.2753_2759delATCCGTC	11.37:g.101834519_101834525delATCCGTC	ENSP00000263468:p.Tyr918fs					KIAA1377_ENST00000537689.1_Frame_Shift_Del_p.YPS719fs	p.YPS918fs	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.038)	6	3023_3029	+	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)	918					Q4G0U6	Frame_Shift_Del	DEL	ENST00000263468.8	37	c.2753_2759delATCCGTC	CCDS31658.1																																																																																				0.396	KIAA1377-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394140.1	NM_020802		42	162						42	162	---	---	---	---
ALG10	84920	broad.mit.edu	37	12	34179606	34179606	+	Frame_Shift_Del	DEL	T	T	-			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr12:34179606delT	ENST00000266483.2	+	3	1497	c.1178delT	c.(1177-1179)attfs	p.I393fs	RP11-847H18.2_ENST00000501954.2_RNA|AC046130.1_ENST00000401300.2_RNA|ALG10_ENST00000538927.1_Intron	NM_032834.3	NP_116223.3	Q5BKT4	AG10A_HUMAN	ALG10, alpha-1,2-glucosyltransferase	393					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring hexosyl groups (GO:0016758)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				TCAAAGTCAATTTTTTGGAAT	0.299																																						ENST00000266483.2																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1177-1179)atfs		ALG10, alpha-1,2-glucosyltransferase							115.0	118.0	117.0					12																	34179606		2203	4299	6502	SO:0001589	frameshift_variant	84920				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	g.chr12:34179606delT	AJ312278	CCDS41769.1	12p11.21	2013-03-04	2013-03-04		ENSG00000139133	ENSG00000139133	2.4.1.256		23162	protein-coding gene	gene with protein product	"""derepression of ITR1 expression 2 homolog (S. cerevisiae)"", ""dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase"""	603313	"""asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (yeast)"", ""asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (S. pombe)"""				Standard	NM_032834		Approved	FLJ14751, DIE2, ALG10A	uc001rlm.3	Q5BKT4	OTTHUMG00000169285	ENST00000266483.2:c.1178delT	12.37:g.34179606delT	ENSP00000266483:p.Ile393fs					RP11-847H18.2_ENST00000501954.2_RNA|ALG10_ENST00000538927.1_Intron	p.I393fs	NM_032834.3	NP_116223.3	Q5BKT4	AG10A_HUMAN			3	1497	+	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)	393					Q6NS98|Q96DU0|Q96SM6	Frame_Shift_Del	DEL	ENST00000266483.2	37	c.1178delT	CCDS41769.1																																																																																				0.299	ALG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403309.1	NM_032834		69	93						69	93	---	---	---	---
TPTE2P1	646405	broad.mit.edu	37	13	25527490	25527491	+	RNA	INS	-	-	AAAAAG	rs375560921|rs201773491	byFrequency	TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr13:25527490_25527491insAAAAAG	ENST00000429698.1	-	0	282							Q5T6R2	TPT2L_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 1																		AGGAAGGTTCTAAAAAAAATTT	0.252														9	0.00179712	0.0008	0.0014	5008	,	,		20326	0.004		0.003	False		,,,				2504	0.0					ENST00000429698.1																			0																																																			646405							g.chr13:25527490_25527491insAAAAAG			13q12.12-q12.13	2012-10-03			ENSG00000253771	ENSG00000253771			35196	pseudogene	pseudogene							Standard	NR_026730		Approved		uc010tdh.2	Q5T6R2	OTTHUMG00000016596		13.37:g.25527490_25527491insAAAAAG														0	282	-								B3KST4|B4DMH9	RNA	INS	ENST00000429698.1	37																																																																																						0.252	TPTE2P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000044206.1			3	5						3	5	---	---	---	---
SLC24A1	9187	broad.mit.edu	37	15	65918177	65918179	+	In_Frame_Del	DEL	CTG	CTG	-	rs370680044		TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr15:65918177_65918179delCTG	ENST00000261892.6	+	2	2046_2048	c.1759_1761delCTG	c.(1759-1761)ctgdel	p.L591del	SLC24A1_ENST00000339868.6_In_Frame_Del_p.L591del|SLC24A1_ENST00000546330.1_In_Frame_Del_p.L591del|SLC24A1_ENST00000537259.1_In_Frame_Del_p.L591del|SLC24A1_ENST00000399033.4_In_Frame_Del_p.L591del|SLC24A1_ENST00000544319.2_In_Frame_Del_p.L591del	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	591					calcium ion transport (GO:0006816)|ion transport (GO:0006811)|phototransduction, visible light (GO:0007603)|response to light intensity (GO:0009642)|rhodopsin mediated signaling pathway (GO:0016056)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						GTGGGAGAGCCTGCTGCTGCTGC	0.547																																						ENST00000261892.6																			0				breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1759-1761)del		solute carrier family 24 (sodium/potassium/calcium exchanger), member 1				99,3943		8,83,1930						4.1	1.0			151	234,7914		7,220,3847	no	coding	SLC24A1	NM_004727.2		15,303,5777	A1A1,A1R,RR		2.8719,2.4493,2.7317				333,11857				SO:0001651	inframe_deletion	9187				response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity	g.chr15:65918177_65918179delCTG	AF062922	CCDS45284.1, CCDS73742.1, CCDS73743.1, CCDS73744.1	15q22.31	2014-01-28			ENSG00000074621	ENSG00000074621		"""Solute carriers"""	10975	protein-coding gene	gene with protein product		603617				9856482	Standard	NM_004727		Approved	NCKX1, NCKX, RODX, KIAA0702, HsT17412, CSNB1D	uc010ujf.2	O60721	OTTHUMG00000167960	ENST00000261892.6:c.1759_1761delCTG	15.37:g.65918186_65918188delCTG	ENSP00000261892:p.Leu591del					SLC24A1_ENST00000339868.6_In_Frame_Del_p.L591del|SLC24A1_ENST00000546330.1_In_Frame_Del_p.L591del|SLC24A1_ENST00000537259.1_In_Frame_Del_p.L591del|SLC24A1_ENST00000399033.4_In_Frame_Del_p.L591del|SLC24A1_ENST00000544319.2_In_Frame_Del_p.L591del	p.L591del	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN			2	2046_2048	+			591					O43485|O75184|Q17RM9	In_Frame_Del	DEL	ENST00000261892.6	37	c.1759_1761delCTG	CCDS45284.1																																																																																				0.547	SLC24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397304.1	NM_004727		9	97						9	97	---	---	---	---
ABCA17P	650655	broad.mit.edu	37	16	2475097	2475098	+	RNA	DEL	TC	TC	-	rs372790950|rs372517981		TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr16:2475097_2475098delTC	ENST00000469908.1	+	0	3047					NR_003574.1				ATP-binding cassette, sub-family A (ABC1), member 17, pseudogene																		GGTAActctgtctctctctctc	0.559																																						ENST00000469908.1																			0																																																			650655							g.chr16:2475097_2475098delTC	DQ266102		16p13.3	2012-03-14	2010-03-12		ENSG00000238098	ENSG00000238098		"""ATP binding cassette transporters / subfamily A"""	32972	pseudogene	pseudogene						16968533	Standard	NR_003574		Approved		uc002cqc.1		OTTHUMG00000154348		16.37:g.2475107_2475108delTC								NR_003574.1						0	3047	+									RNA	DEL	ENST00000469908.1	37																																																																																						0.559	ABCA17P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000334904.1	NR_003574		3	4						3	4	---	---	---	---
FAM92B	339145	broad.mit.edu	37	16	85143886	85143900	+	In_Frame_Del	DEL	GGTGGCCCGCAGCTC	GGTGGCCCGCAGCTC	-	rs35834733|rs188484129		TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr16:85143886_85143900delGGTGGCCCGCAGCTC	ENST00000539556.1	-	2	342_356	c.187_201delGAGCTGCGGGCCACC	c.(187-201)gagctgcgggccaccdel	p.ELRAT63del		NM_198491.1	NP_940893.1	Q6ZTR7	FA92B_HUMAN	family with sequence similarity 92, member B	63										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	16						AGCCCCTCATGGTGGCCCGCAGCTCGGGGTTCTCG	0.679																																						ENST00000539556.1																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	16						c.(187-201)del		family with sequence similarity 92, member B																																				SO:0001651	inframe_deletion	339145							g.chr16:85143886_85143900delGGTGGCCCGCAGCTC		CCDS32500.1	16q24.1	2005-09-22				ENSG00000153789			24781	protein-coding gene	gene with protein product						12477932	Standard	NM_198491		Approved	FLJ44299	uc021tlz.1	Q6ZTR7		ENST00000539556.1:c.187_201delGAGCTGCGGGCCACC	16.37:g.85143886_85143900delGGTGGCCCGCAGCTC	ENSP00000443411:p.Glu63_Thr67del						p.ELRAT63del	NM_198491.1	NP_940893.1	Q6ZTR7	FA92B_HUMAN			2	342_356	-			63						In_Frame_Del	DEL	ENST00000539556.1	37	c.187_201delGAGCTGCGGGCCACC	CCDS32500.1																																																																																				0.679	FAM92B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_198491		8	52						8	52	---	---	---	---
SPAG7	9552	broad.mit.edu	37	17	4863018	4863027	+	Intron	DEL	CCTCTCCCAG	CCTCTCCCAG	-			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr17:4863018_4863027delCCTCTCCCAG	ENST00000206020.3	-	6	642				SPAG7_ENST00000573366.1_Intron|SPAG7_ENST00000575142.1_Frame_Shift_Del_p.AGRG190fs	NM_004890.2	NP_004881.2	O75391	SPAG7_HUMAN	sperm associated antigen 7							nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(3)|ovary(2)|urinary_tract(1)	10						ATCCTATGCTCCTCTCCCAGCCACCCCCAG	0.633																																						ENST00000575142.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(3)|ovary(2)|urinary_tract(1)	10						c.(568-579)gafs		sperm associated antigen 7																																				SO:0001627	intron_variant	9552					nucleus	nucleic acid binding|protein binding	g.chr17:4863018_4863027delCCTCTCCCAG	AF047437	CCDS42240.1	17p13.2	2008-07-18				ENSG00000091640			11216	protein-coding gene	gene with protein product		610056				9653160	Standard	NM_004890		Approved	FSA-1, ACRP, MGC20134	uc002gae.3	O75391		ENST00000206020.3:c.574+27CTGGGAGAGG>-	17.37:g.4863018_4863027delCCTCTCCCAG						SPAG7_ENST00000573366.1_Intron|SPAG7_ENST00000206020.3_Intron	p.AGRG190fs			O75391	SPAG7_HUMAN			6	587_596	-			0					Q96EU5	Frame_Shift_Del	DEL	ENST00000206020.3	37	c.569_578delCTGGGAGAGG	CCDS42240.1																																																																																				0.633	SPAG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438747.1	NM_004890		38	183						38	183	---	---	---	---
SPAG7	9552	broad.mit.edu	37	17	4863350	4863351	+	Frame_Shift_Ins	INS	-	-	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr17:4863350_4863351insT	ENST00000206020.3	-	5	450_451	c.383_384insA	c.(382-384)gacfs	p.D128fs	SPAG7_ENST00000573366.1_Frame_Shift_Ins_p.D77fs|SPAG7_ENST00000575142.1_Frame_Shift_Ins_p.D117fs	NM_004890.2	NP_004881.2	O75391	SPAG7_HUMAN	sperm associated antigen 7	128						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(3)|ovary(2)|urinary_tract(1)	10						CCTTCTGGGGGTCCCATTCCTC	0.554																																						ENST00000573366.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(3)|ovary(2)|urinary_tract(1)	10						c.(229-231)gccfs		sperm associated antigen 7																																				SO:0001589	frameshift_variant	9552					nucleus	nucleic acid binding|protein binding	g.chr17:4863350_4863351insT	AF047437	CCDS42240.1	17p13.2	2008-07-18				ENSG00000091640			11216	protein-coding gene	gene with protein product		610056				9653160	Standard	NM_004890		Approved	FSA-1, ACRP, MGC20134	uc002gae.3	O75391		ENST00000206020.3:c.384dupA	17.37:g.4863351_4863351dupT	ENSP00000206020:p.Asp128fs					SPAG7_ENST00000575142.1_Frame_Shift_Ins_p.A117fs|SPAG7_ENST00000206020.3_Frame_Shift_Ins_p.A128fs	p.A77fs			O75391	SPAG7_HUMAN			5	1088_1089	-			128			R3H.		Q96EU5	Frame_Shift_Ins	INS	ENST00000206020.3	37	c.230_231insA	CCDS42240.1																																																																																				0.554	SPAG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438747.1	NM_004890		59	183						59	183	---	---	---	---
DOCK6	57572	broad.mit.edu	37	19	11364313	11364314	+	Splice_Site	INS	-	-	C			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr19:11364313_11364314insC	ENST00000294618.7	-	2	144		c.e2+1			NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6						blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						CCAAATACTTACCCCCAGGGAG	0.663																																						ENST00000294618.7																			0				breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						c.e2+1		dedicator of cytokinesis 6																																				SO:0001630	splice_region_variant	57572				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr19:11364313_11364314insC		CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.132+1->G	19.37:g.11364318_11364318dupC								NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN			2	144	-								A6H8X5|Q7Z7P4|Q9P2F2	Splice_Site	INS	ENST00000294618.7	37		CCDS45975.1																																																																																				0.663	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453155.1	NM_020812	Intron	2	4						2	4	---	---	---	---
CTC-260E6.6	0	broad.mit.edu	37	19	20361495	20361495	+	RNA	DEL	G	G	-			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr19:20361495delG	ENST00000593655.1	-	0	199																											ccaacatggtgaaacctcgtc	0.468																																						ENST00000593655.1																			0																																																			0							g.chr19:20361495delG																													19.37:g.20361495delG														0	199	-									RNA	DEL	ENST00000593655.1	37																																																																																						0.468	CTC-260E6.6-006	KNOWN	basic	antisense	antisense	OTTHUMT00000462901.1			2	4						2	4	---	---	---	---
