#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
RASGEF1A	221002	broad.mit.edu	37	10	43697262	43697262	+	Silent	SNP	A	A	G			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr10:43697262A>G	ENST00000395809.1	-	4	2959	c.453T>C	c.(451-453)tgT>tgC	p.C151C	RASGEF1A_ENST00000374459.1_Silent_p.C159C|RASGEF1A_ENST00000395810.1_Silent_p.C151C|RASGEF1A_ENST00000472864.1_5'UTR			Q8N9B8	RGF1A_HUMAN	RasGEF domain family, member 1A	151	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				cell migration (GO:0016477)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)	11						TCACCTCATCACACTGGGTGA	0.617																																						ENST00000395809.1																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)	11						c.(451-453)tgT>tgC		RasGEF domain family, member 1A							69.0	58.0	62.0					10																	43697262		2203	4300	6503	SO:0001819	synonymous_variant	221002				cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	g.chr10:43697262A>G	AK095136	CCDS7202.2, CCDS60517.1	10q11.21	2006-01-11			ENSG00000198915	ENSG00000198915			24246	protein-coding gene	gene with protein product		614531				12477932	Standard	XM_005271808		Approved	CG4853, FLJ37817	uc001jap.1	Q8N9B8	OTTHUMG00000018025	ENST00000395809.1:c.453T>C	10.37:g.43697262A>G						RASGEF1A_ENST00000395810.1_Silent_p.C151C|RASGEF1A_ENST00000472864.1_5'UTR|RASGEF1A_ENST00000374459.1_Silent_p.C159C	p.C151C			Q8N9B8	RGF1A_HUMAN			4	2959	-			151			N-terminal Ras-GEF.		Q8TBF1	Silent	SNP	ENST00000395809.1	37	c.453T>C	CCDS7202.2	.	.	.	.	.	.	.	.	.	.	A	2.707	-0.269595	0.05716	.	.	ENSG00000198915	ENST00000374455	.	.	.	5.5	-2.64	0.06114	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2198	0.59881	0.6996:0.0:0.3004:0.0	.	.	.	.	R	53	.	.	X	-	1	0	RASGEF1A	43017268	0.139000	0.22563	0.434000	0.26772	0.171000	0.22731	-0.404000	0.07205	-0.801000	0.04427	-1.215000	0.01618	TGA		0.617	RASGEF1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000313989.1	NM_145313		11	89	0	0	0	1	0	11	89				
CELSR2	1952	broad.mit.edu	37	1	109807559	109807559	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr1:109807559G>A	ENST00000271332.3	+	12	5595	c.5534G>A	c.(5533-5535)cGc>cAc	p.R1845H		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1845	EGF-like 6; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GTGTGTACCCGCAAGCCCAGT	0.557																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82						c.(5533-5535)cGc>cAc		cadherin, EGF LAG seven-pass G-type receptor 2							157.0	142.0	147.0					1																	109807559		2203	4300	6503	SO:0001583	missense	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109807559G>A	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.5534G>A	1.37:g.109807559G>A	ENSP00000271332:p.Arg1845His						p.R1845H	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	12	5595	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	1845			EGF-like 6; calcium-binding.		Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.5534G>A	CCDS796.1	.	.	.	.	.	.	.	.	.	.	G	12.67	2.006429	0.35415	.	.	ENSG00000143126	ENST00000271332	D	0.91792	-2.91	5.12	4.2	0.49525	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.73946	0.3652	N	0.16743	0.435	0.47407	D	0.999418	P	0.37441	0.595	B	0.31751	0.135	T	0.74662	-0.3590	9	0.25106	T	0.35	.	11.5525	0.50729	0.1485:0.0:0.8515:0.0	.	1845	Q9HCU4	CELR2_HUMAN	H	1845	ENSP00000271332:R1845H	ENSP00000271332:R1845H	R	+	2	0	CELSR2	109609082	0.995000	0.38212	1.000000	0.80357	0.991000	0.79684	4.408000	0.59761	1.392000	0.46585	0.462000	0.41574	CGC		0.557	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		5	586	0	0	0	1	0	5	586				
HMGB3	3149	broad.mit.edu	37	X	150156360	150156360	+	Silent	SNP	G	G	A			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443																																						ENST00000325307.7																			1	Substitution - coding silent(1)	p.E192E(1)	large_intestine(1)	endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8						c.(574-576)gaG>gaA		high mobility group box 3							50.0	48.0	49.0					X																	150156360		2202	4299	6501	SO:0001819	synonymous_variant	3149				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	g.chrX:150156360G>A	AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"""High-mobility group / Canonical"""	5004	protein-coding gene	gene with protein product	"""non-histone chromosomal protein"""	300193	"""high-mobility group (nonhistone chromosomal) protein 4"", ""high-mobility group box 3"""	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.576G>A	X.37:g.150156360G>A						HMGB3_ENST00000448905.2_Silent_p.E192E	p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN			5	672	+	Acute lymphoblastic leukemia(192;6.56e-05)		192			Asp/Glu-rich (acidic).		O95556|Q6NS40	Silent	SNP	ENST00000325307.7	37	c.576G>A	CCDS35428.1																																																																																				0.443	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060867.1	NM_005342		7	223	0	0	0	1	0	7	223				
FRG1B	284802	broad.mit.edu	37	20	29628282	29628282	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr20:29628282G>A	ENST00000278882.3	+	6	664	c.284G>A	c.(283-285)gGg>gAg	p.G95E	FRG1B_ENST00000439954.2_Missense_Mutation_p.G100E|FRG1B_ENST00000358464.4_Missense_Mutation_p.G95E			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	95										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AATGAAGCAGGGGACATAGAA	0.373																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(283-285)gGg>gAg																																						SO:0001583	missense	0							g.chr20:29628282G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.284G>A	20.37:g.29628282G>A	ENSP00000278882:p.Gly95Glu					FRG1B_ENST00000358464.4_Missense_Mutation_p.G95E|FRG1B_ENST00000439954.2_Missense_Mutation_p.G100E	p.G95E							6	664	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.284G>A		.	.	.	.	.	.	.	.	.	.	g	18.02	3.529440	0.64860	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.56103	0.48	2.08	2.08	0.27032	Actin cross-linking (1);	0.051750	0.85682	D	0.000000	T	0.52092	0.1713	.	.	.	0.58432	D	0.999996	B;P	0.39940	0.309;0.696	P;P	0.46543	0.492;0.52	T	0.54221	-0.8326	9	0.45353	T	0.12	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	100;95	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	E	95;100;95	ENSP00000408863:G100E	ENSP00000278882:G95E	G	+	2	0	FRG1B	28241943	1.000000	0.71417	0.998000	0.56505	0.945000	0.59286	8.494000	0.90477	1.475000	0.48197	0.423000	0.28283	GGG		0.373	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		6	506	0	0	0	1	0	6	506				
CASKIN1	57524	broad.mit.edu	37	16	2228635	2228635	+	Silent	SNP	C	C	T	rs369309592		TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr16:2228635C>T	ENST00000343516.6	-	20	4304	c.4212G>A	c.(4210-4212)gcG>gcA	p.A1404A		NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	1404					signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						TGCTCTTTTCCGCCGCCGAGT	0.716													C|||	1	0.000199681	0.0008	0.0	5008	,	,		7187	0.0		0.0	False		,,,				2504	0.0					ENST00000343516.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						c.(4210-4212)gcG>gcA		CASK interacting protein 1		C		7,4207		0,7,2100	18.0	23.0	21.0		4212	-8.9	0.0	16		21	0,8496		0,0,4248	no	coding-synonymous	CASKIN1	NM_020764.3		0,7,6348	TT,TC,CC		0.0,0.1661,0.0551		1404/1432	2228635	7,12703	2107	4248	6355	SO:0001819	synonymous_variant	57524				signal transduction	cytoplasm		g.chr16:2228635C>T	AF451977	CCDS42103.1	16p13.3	2013-01-10				ENSG00000167971		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	20879	protein-coding gene	gene with protein product		612184				12040031	Standard	NM_020764		Approved	KIAA1306, ANKS5A	uc010bsg.1	Q8WXD9		ENST00000343516.6:c.4212G>A	16.37:g.2228635C>T							p.A1404A	NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN			20	4304	-			1404					Q9P2P0	Silent	SNP	ENST00000343516.6	37	c.4212G>A	CCDS42103.1																																																																																				0.716	CASKIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435055.1	NM_020764		14	104	0	0	0	1	0	14	104				
TBC1D2B	23102	broad.mit.edu	37	15	78290635	78290635	+	Missense_Mutation	SNP	C	C	T	rs200408968		TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr15:78290635C>T	ENST00000300584.3	-	13	2758	c.2759G>A	c.(2758-2760)cGa>cAa	p.R920Q	TBC1D2B_ENST00000409931.3_Missense_Mutation_p.D903N|TBC1D2B_ENST00000492078.1_5'UTR	NM_015079.5|NM_144572.1	NP_055894.6|NP_653173.1	Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	920							Rab GTPase activator activity (GO:0005097)	p.D903N(3)|p.R920Q(1)		breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						GTAGGCGCGTCGGTTCCGGAT	0.617																																						ENST00000409931.3																			4	Substitution - Missense(4)	p.D903N(3)|p.R920Q(1)	cervix(2)|upper_aerodigestive_tract(1)|ovary(1)	breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						c.(2707-2709)Gac>Aac		TBC1 domain family, member 2B							39.0	33.0	35.0					15																	78290635		2196	4291	6487	SO:0001583	missense	23102					intracellular	protein binding|Rab GTPase activator activity	g.chr15:78290635C>T	AB028978	CCDS32301.2, CCDS45314.1	15q24.3-q25.1	2005-11-29			ENSG00000167202	ENSG00000167202			29183	protein-coding gene	gene with protein product						10470851	Standard	NM_015079		Approved	KIAA1055	uc002bcy.4	Q9UPU7	OTTHUMG00000152885	ENST00000300584.3:c.2759G>A	15.37:g.78290635C>T	ENSP00000300584:p.Arg920Gln					TBC1D2B_ENST00000492078.1_5'UTR|TBC1D2B_ENST00000300584.3_Missense_Mutation_p.R920Q	p.D903N			Q9UPU7	TBD2B_HUMAN			13	2778	-			0					A7MD42|Q8N1F9|Q9NXM0	Missense_Mutation	SNP	ENST00000300584.3	37	c.2707G>A	CCDS45314.1	88|88	0.040293040293040296|0.040293040293040296	2|2	0.0040650406504065045|0.0040650406504065045	10|10	0.027624309392265192|0.027624309392265192	8|8	0.013986013986013986|0.013986013986013986	68|68	0.08970976253298153|0.08970976253298153	c|c	22.6|22.6	4.311579|4.311579	0.81358|0.81358	.|.	.|.	ENSG00000167202|ENSG00000167202	ENST00000418039;ENST00000409931|ENST00000300584	T|T	0.11712|0.09445	2.75|2.98	4.48|4.48	4.48|4.48	0.54585|0.54585	.|.	0.787190|.	0.11177|.	N|.	0.591392|.	T|T	0.00608|0.00608	0.0020|0.0020	.|.	.|.	.|.	0.26703|0.26703	N|N	0.971136|0.971136	B|D	0.30193|0.57257	0.272|0.979	B|P	0.18561|0.51833	0.022|0.681	T|T	0.06807|0.06807	-1.0806|-1.0806	9|8	0.02654|0.23891	T|T	1|0.37	.|.	16.1645|16.1645	0.81745|0.81745	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	903|920	Q9UPU7-2|Q9UPU7	.|TBD2B_HUMAN	N|Q	802;903|920	ENSP00000387165:D903N|ENSP00000300584:R920Q	ENSP00000387165:D903N|ENSP00000300584:R920Q	D|R	-|-	1|2	0|0	TBC1D2B|TBC1D2B	76077690|76077690	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.855000|0.855000	0.48748|0.48748	6.002000|6.002000	0.70693|0.70693	2.033000|2.033000	0.60031|0.60031	0.479000|0.479000	0.44913|0.44913	GAC|CGA		0.617	TBC1D2B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328369.3	NM_015079		4	57	0	0	0	1	0	4	57				
BTN2A3P	54718	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs571530750	byFrequency	TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr6:26422353C>T	ENST00000466808.2	+	0	7							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622													C|||	7	0.00139776	0.0023	0.0	5008	,	,		16376	0.001		0.0	False		,,,				2504	0.0031					ENST00000466808.2																			2	Substitution - Missense(2)	p.P3S(2)	endometrium(1)|kidney(1)																																																0							g.chr6:26422353C>T	AL021917		6p22.1	2014-01-14	2011-09-06	2011-09-06	ENSG00000124549	ENSG00000124549		"""Butyrophilins"""	13229	pseudogene	pseudogene		613592	"""butyrophilin, subfamily 2, member A3"""	BTN2A3			Standard	NR_027795		Approved	BTN2.3	uc011dkl.1	Q96KV6	OTTHUMG00000014453		6.37:g.26422353C>T														0	7	+								A6NEF4	RNA	SNP	ENST00000466808.2	37																																																																																						0.622	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000040118.4	NR_027795		14	250	0	0	0	1	0	14	250				
ESPNP	284729	broad.mit.edu	37	1	17017734	17017734	+	RNA	SNP	C	C	T	rs12561805	byFrequency	TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr1:17017734C>T	ENST00000492551.1	-	0	1993					NR_026567.1				espin pseudogene																		CAGCTTCTTCCGCAGGAGGTC	0.647													c|||	1453	0.290136	0.1589	0.3184	5008	,	,		38815	0.4425		0.2913	False		,,,				2504	0.2894					ENST00000492551.1																			0																																																			0							g.chr1:17017734C>T	AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17017734C>T								NR_026567.1						0	1993	-									RNA	SNP	ENST00000492551.1	37																																																																																						0.647	ESPNP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000326311.1			20	181	0	0	0	1	0	20	181				
ZNF347	84671	broad.mit.edu	37	19	53644064	53644064	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr19:53644064T>C	ENST00000334197.7	-	5	2085	c.2017A>G	c.(2017-2019)Aga>Gga	p.R673G	ZNF347_ENST00000601469.2_Missense_Mutation_p.R674G|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000452676.2_Missense_Mutation_p.R674G	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	673					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(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		GTATGAACTCTCCGATGTCTT	0.428																																					Melanoma(64;205 1597 17324 45721)	ENST00000452676.2																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23						c.(2020-2022)Aga>Gga		zinc finger protein 347							161.0	146.0	151.0					19																	53644064		2203	4300	6503	SO:0001583	missense	84671				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53644064T>C	AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"""Zinc fingers, C2H2-type"", ""-"""	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.2017A>G	19.37:g.53644064T>C	ENSP00000334146:p.Arg673Gly					ZNF347_ENST00000601469.2_Missense_Mutation_p.R674G|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000334197.7_Missense_Mutation_p.R673G	p.R674G	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN		GBM - Glioblastoma multiforme(134;0.0179)	5	2446	-			673					B3KU77|B9EG59|G5E9N4|Q8TCN1	Missense_Mutation	SNP	ENST00000334197.7	37	c.2020A>G	CCDS33097.1	.	.	.	.	.	.	.	.	.	.	T	9.306	1.054384	0.19907	.	.	ENSG00000197937	ENST00000334197;ENST00000452676	T;T	0.02421	4.3;4.3	2.94	1.91	0.25777	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05456	0.0144	M	0.83692	2.655	0.09310	N	0.999998	B;P	0.38504	0.169;0.634	B;B	0.36418	0.034;0.224	T	0.23476	-1.0187	9	0.72032	D	0.01	.	5.9153	0.19052	0.0:0.2437:0.0:0.7563	.	674;673	G5E9N4;Q96SE7	.;ZN347_HUMAN	G	673;674	ENSP00000334146:R673G;ENSP00000405218:R674G	ENSP00000334146:R673G	R	-	1	2	ZNF347	58335876	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-1.856000	0.01662	0.362000	0.24319	-0.256000	0.11100	AGA		0.428	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584		8	655	0	0	0	1	0	8	655				
SYT4	6860	broad.mit.edu	37	18	40853958	40853958	+	Missense_Mutation	SNP	T	T	A			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr18:40853958T>A	ENST00000255224.3	-	2	804	c.436A>T	c.(436-438)Act>Tct	p.T146S	SYT4_ENST00000590752.1_Missense_Mutation_p.T128S|SYT4_ENST00000586678.1_Intron	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	146					exocytosis (GO:0006887)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of vesicle fusion (GO:0031339)|neurotransmitter secretion (GO:0007269)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						TCTTCTGAAGTAAGGGAAGTG	0.448																																					NSCLC(85;81 1419 2855 22820 35912)	ENST00000255224.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						c.(436-438)Act>Tct		synaptotagmin IV							49.0	49.0	49.0					18																	40853958		2203	4300	6503	SO:0001583	missense	6860					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity	g.chr18:40853958T>A	BC036538	CCDS11922.1	18q12.3	2013-01-21			ENSG00000132872	ENSG00000132872		"""Synaptotagmins"""	11512	protein-coding gene	gene with protein product		600103				8058779	Standard	NM_020783		Approved	KIAA1342, HsT1192	uc002law.3	Q9H2B2	OTTHUMG00000132610	ENST00000255224.3:c.436A>T	18.37:g.40853958T>A	ENSP00000255224:p.Thr146Ser					SYT4_ENST00000590752.1_Missense_Mutation_p.T128S|SYT4_ENST00000586678.1_Intron	p.T146S	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN			2	804	-			146					B4DEU3|Q9P2K4	Missense_Mutation	SNP	ENST00000255224.3	37	c.436A>T	CCDS11922.1	.	.	.	.	.	.	.	.	.	.	T	0	-2.718377	0.00093	.	.	ENSG00000132872	ENST00000255224	T	0.07800	3.16	5.87	0.661	0.17874	.	0.510618	0.23724	N	0.045196	T	0.02230	0.0069	N	0.02539	-0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.45977	-0.9224	10	0.02654	T	1	.	6.2987	0.21101	0.5002:0.1473:0.0:0.3526	.	128;146	B4DEU3;Q9H2B2	.;SYT4_HUMAN	S	146	ENSP00000255224:T146S	ENSP00000255224:T146S	T	-	1	0	SYT4	39107956	0.020000	0.18652	0.091000	0.20842	0.126000	0.20510	0.155000	0.16362	-0.290000	0.09025	-1.427000	0.01099	ACT		0.448	SYT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255851.2	NM_020783		36	163	0	0	0	1	0	36	163				
LMBR1L	55716	broad.mit.edu	37	12	49491751	49491751	+	Missense_Mutation	SNP	G	G	A	rs371228926		TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr12:49491751G>A	ENST00000267102.8	-	16	1720	c.1378C>T	c.(1378-1380)Cgg>Tgg	p.R460W	LMBR1L_ENST00000547382.1_Missense_Mutation_p.R440W|LMBR1L_ENST00000395141.4_Missense_Mutation_p.R455W	NM_018113.2	NP_060583.2	Q6UX01	LMBRL_HUMAN	limb development membrane protein 1-like	460					endocytosis (GO:0006897)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						AGCTCTGCCCGCACAGCTGCA	0.562											OREG0021783	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000267102.8																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(1378-1380)Cgg>Tgg		limb development membrane protein 1-like		G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	105.0	107.0	106.0		1378	2.5	1.0	12		106	0,8600		0,0,4300	no	missense	LMBR1L	NM_018113.2	101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	460/490	49491751	1,13005	2203	4300	6503	SO:0001583	missense	55716				endocytosis	integral to membrane|plasma membrane	receptor activity	g.chr12:49491751G>A	AB033000	CCDS8780.2, CCDS73466.1	12q13.12	2013-08-05	2013-08-05		ENSG00000139636	ENSG00000139636			18268	protein-coding gene	gene with protein product		610007	"""limb region 1 homolog (mouse)-like"""			10574461, 11287427	Standard	XM_005269022		Approved	FLJ10494, KIAA1174	uc001rth.4	Q6UX01	OTTHUMG00000150511	ENST00000267102.8:c.1378C>T	12.37:g.49491751G>A	ENSP00000267102:p.Arg460Trp		OREG0021783	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	962	LMBR1L_ENST00000547382.1_Missense_Mutation_p.R440W|LMBR1L_ENST00000395141.4_Missense_Mutation_p.R455W	p.R460W	NM_018113.2	NP_060583.2	Q6UX01	LMBRL_HUMAN			16	1720	-			460					Q969J4|Q96BY8|Q96HN8|Q9NT09|Q9NVE1|Q9NVU9|Q9ULP6	Missense_Mutation	SNP	ENST00000267102.8	37	c.1378C>T	CCDS8780.2	.	.	.	.	.	.	.	.	.	.	G	22.0	4.231485	0.79688	2.27E-4	0.0	ENSG00000139636	ENST00000267102;ENST00000547382;ENST00000395141	T;T;T	0.58506	0.41;0.33;0.37	5.84	2.54	0.30619	.	0.054147	0.64402	D	0.000001	T	0.66287	0.2774	L	0.43923	1.385	0.41689	D	0.989332	D;D;D	0.89917	0.996;0.993;1.0	P;P;D	0.67231	0.649;0.548;0.95	T	0.69439	-0.5145	10	0.87932	D	0	.	13.789	0.63128	0.0:0.0:0.5232:0.4768	.	440;460;455	Q6UX01-3;Q6UX01;Q6UX01-4	.;LMBRL_HUMAN;.	W	460;440;455	ENSP00000267102:R460W;ENSP00000447329:R440W;ENSP00000378573:R455W	ENSP00000267102:R460W	R	-	1	2	LMBR1L	47778018	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.523000	0.73787	0.620000	0.30215	0.563000	0.77884	CGG		0.562	LMBR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318696.1	NM_018113		6	514	0	0	0	1	0	6	514				
PSG1	5669	broad.mit.edu	37	19	43383710	43383710	+	Silent	SNP	G	G	A			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr19:43383710G>A	ENST00000436291.2	-	1	140	c.24C>T	c.(22-24)ccC>ccT	p.P8P	PSG1_ENST00000403380.3_Silent_p.P8P|PSG1_ENST00000595124.1_Silent_p.P8P|PSG1_ENST00000244296.2_Silent_p.P8P|PSG1_ENST00000312439.6_Silent_p.P8P|PSG1_ENST00000601073.1_5'UTR|PSG1_ENST00000595356.1_Silent_p.P8P	NM_001184825.1|NM_001184826.1	NP_001171754.1|NP_001171755.1	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	8					female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				GCTGTGTGCAGGGAGGGGCTG	0.572																																						ENST00000244296.2																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						c.(22-24)ccC>ccT		pregnancy specific beta-1-glycoprotein 1							186.0	159.0	169.0					19																	43383710		1510	2707	4217	SO:0001819	synonymous_variant	0							g.chr19:43383710G>A		CCDS12612.1, CCDS54275.1, CCDS59392.1, CCDS74380.1	19q13.2	2013-01-29			ENSG00000231924	ENSG00000231924		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9514	protein-coding gene	gene with protein product		176390		PSBG1			Standard	NM_006905		Approved	PSGGA, CD66f, PBG1		P11464	OTTHUMG00000151123	ENST00000436291.2:c.24C>T	19.37:g.43383710G>A						PSG1_ENST00000601073.1_5'UTR|PSG1_ENST00000436291.2_Silent_p.P8P|PSG1_ENST00000403380.3_Silent_p.P8P|PSG1_ENST00000595356.1_Silent_p.P8P|PSG1_ENST00000312439.6_Silent_p.P8P|PSG1_ENST00000595124.1_Silent_p.P8P	p.P8P	NM_006905.2	NP_008836.2					1	161	-		Prostate(69;0.00682)						O75236|P11462|P11463|Q15231|Q15241|Q15243|Q16660|Q6ICR4|Q9P1W5|Q9UQ79	Silent	SNP	ENST00000436291.2	37	c.24C>T	CCDS54275.1																																																																																				0.572	PSG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321426.1			88	407	0	0	0	1	0	88	407				
ANKRD20A8P	729171	broad.mit.edu	37	2	95514946	95514946	+	RNA	SNP	C	C	T			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr2:95514946C>T	ENST00000432432.2	-	0	711				RNU6-1320P_ENST00000390838.1_RNA	NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene									p.R201Q(1)									ACTACTGTACCGTCTCAGCCT	0.308																																						ENST00000432432.2																			1	Substitution - Missense(1)	p.R201Q(1)	prostate(1)																																																0							g.chr2:95514946C>T			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95514946C>T								NR_040113.1						0	711	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.308	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			6	791	0	0	0	1	0	6	791				
DENND1A	57706	broad.mit.edu	37	9	126144428	126144428	+	Silent	SNP	G	G	C			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr9:126144428G>C	ENST00000373624.2	-	22	2514	c.2313C>G	c.(2311-2313)ggC>ggG	p.G771G	DENND1A_ENST00000542603.1_Silent_p.G556G|DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000394219.3_Silent_p.G782G	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	771	Pro-rich.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|regulation of Rab protein signal transduction (GO:0032483)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						CAGCCCCGGGGCCAGGGCTGA	0.716																																						ENST00000373624.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						c.(2311-2313)ggC>ggG		DENN/MADD domain containing 1A							10.0	15.0	13.0					9																	126144428		2179	4275	6454	SO:0001819	synonymous_variant	57706					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity	g.chr9:126144428G>C	AB046828	CCDS35133.1, CCDS35134.1	9q34.11	2012-10-03	2005-08-17	2005-08-17	ENSG00000119522	ENSG00000119522		"""DENN/MADD domain containing"""	29324	protein-coding gene	gene with protein product		613633	"""KIAA1608"""	KIAA1608		10997877	Standard	XM_005252109		Approved	FLJ21129, FAM31A	uc004bnz.1	Q8TEH3	OTTHUMG00000020643	ENST00000373624.2:c.2313C>G	9.37:g.126144428G>C						DENND1A_ENST00000394219.3_Silent_p.G782G|DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000542603.1_Silent_p.G556G	p.G771G	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN			22	2514	-			771			Pro-rich.		A8MZA3|B1AM80|B7Z3C8|B7Z669|D3PFD3|Q05C88|Q5VWF0|Q6PJZ5|Q8IVD6|Q9H796	Silent	SNP	ENST00000373624.2	37	c.2313C>G	CCDS35133.1																																																																																				0.716	DENND1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053997.1	NM_024820		11	50	0	0	0	1	0	11	50				
VPS13C	54832	broad.mit.edu	37	15	62255003	62255003	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr15:62255003G>A	ENST00000261517.5	-	33	3453	c.3380C>T	c.(3379-3381)gCc>gTc	p.A1127V	VPS13C_ENST00000249837.3_Missense_Mutation_p.A1084V|VPS13C_ENST00000395898.3_Missense_Mutation_p.A1084V|VPS13C_ENST00000395896.4_Missense_Mutation_p.A1127V	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TTCTAGTCGGGCAAAAAGTGA	0.328																																						ENST00000261517.5																			0				NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(3379-3381)gCc>gTc		vacuolar protein sorting 13 homolog C (S. cerevisiae)							79.0	80.0	79.0					15																	62255003		2203	4299	6502	SO:0001583	missense	54832				protein localization			g.chr15:62255003G>A	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.3380C>T	15.37:g.62255003G>A	ENSP00000261517:p.Ala1127Val					VPS13C_ENST00000395896.4_Missense_Mutation_p.A1127V|VPS13C_ENST00000395898.3_Missense_Mutation_p.A1084V|VPS13C_ENST00000249837.3_Missense_Mutation_p.A1084V	p.A1127V	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN			33	3453	-			1127						Missense_Mutation	SNP	ENST00000261517.5	37	c.3380C>T	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	G	12.69	2.012850	0.35511	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.45276	0.9;0.9;0.9	5.93	5.01	0.66863	.	0.386164	0.25909	N	0.027516	T	0.38214	0.1032	M	0.62266	1.93	0.53005	D	0.999967	B;B;B;B	0.29232	0.238;0.238;0.238;0.153	B;B;B;B	0.30855	0.121;0.121;0.121;0.076	T	0.12293	-1.0553	10	0.23891	T	0.37	.	9.4557	0.38753	0.0712:0.0:0.7853:0.1436	.	1084;1127;1084;1127	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	V	1084;1127;1127;1127	ENSP00000249837:A1084V;ENSP00000261517:A1127V;ENSP00000379233:A1127V	ENSP00000249837:A1084V	A	-	2	0	VPS13C	60042295	1.000000	0.71417	1.000000	0.80357	0.139000	0.21198	6.845000	0.75394	2.805000	0.96524	0.655000	0.94253	GCC		0.328	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		5	248	0	0	0	1	0	5	248				
CD1B	910	broad.mit.edu	37	1	158300606	158300606	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr1:158300606G>A	ENST00000368168.3	-	2	415	c.308C>T	c.(307-309)gCc>gTc	p.A103V		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	103					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	cell surface (GO:0009986)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)				breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					GAAATCACCGGCAAAGTCTTG	0.433																																						ENST00000368168.3																			0				breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30						c.(307-309)gCc>gTc		CD1b molecule							203.0	208.0	206.0					1																	158300606		2203	4300	6503	SO:0001583	missense	910				antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding	g.chr1:158300606G>A	M28826	CCDS1176.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158485	ENSG00000158485		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1635	protein-coding gene	gene with protein product		188360	"""CD1B antigen, b polypeptide"", ""CD1b antigen"""	CD1		2447586	Standard	NM_001764		Approved		uc001frx.3	P29016	OTTHUMG00000017513	ENST00000368168.3:c.308C>T	1.37:g.158300606G>A	ENSP00000357150:p.Ala103Val						p.A103V	NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN			2	415	-	all_hematologic(112;0.0378)		103					Q5TDK9|Q5TDL0|Q9UMM2	Missense_Mutation	SNP	ENST00000368168.3	37	c.308C>T	CCDS1176.1	.	.	.	.	.	.	.	.	.	.	G	7.665	0.685781	0.14973	.	.	ENSG00000158485	ENST00000368168	T	0.06371	3.31	4.28	-3.93	0.04143	MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	1.257440	0.05775	N	0.607617	T	0.00845	0.0028	N	0.11023	0.085	0.09310	N	1	B;B	0.32396	0.369;0.008	B;B	0.24541	0.054;0.012	T	0.44907	-0.9297	10	0.13108	T	0.6	-2.4627	10.7361	0.46126	0.7119:0.0:0.2881:0.0	.	103;103	B4E0D2;P29016	.;CD1B_HUMAN	V	103	ENSP00000357150:A103V	ENSP00000357150:A103V	A	-	2	0	CD1B	156567230	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.975000	0.03790	-0.705000	0.05035	0.655000	0.94253	GCC		0.433	CD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046350.2	NM_001764		7	1195	0	0	0	1	0	7	1195				
NCOR1P1	149934	broad.mit.edu	37	20	26084094	26084094	+	RNA	SNP	T	T	C			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr20:26084094T>C	ENST00000478176.1	-	0	363					NR_003678.1		Q9H4R4	CT191_HUMAN	nuclear receptor corepressor 1 pseudogene 1																		aaaacataCATTCTTAGAATA	0.299																																						ENST00000478176.1																			0																				76.0	58.0	64.0					20																	26084094		692	1588	2280			0							g.chr20:26084094T>C	AL391119		20p11.1	2011-09-16	2011-09-16	2011-09-16	ENSG00000240108	ENSG00000240108			16724	pseudogene	pseudogene			"""chromosome 20 open reading frame 191"""	C20orf191			Standard	NR_003678		Approved	bB329D4.2	uc002wvj.5	Q9H4R4	OTTHUMG00000032145		20.37:g.26084094T>C								NR_003678.1						0	363	-								A2RUA0	RNA	SNP	ENST00000478176.1	37																																																																																						0.299	NCOR1P1-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000078478.2			3	50	0	0	0	1	0	3	50				
TSSC2	650368	broad.mit.edu	37	11	3427765	3427765	+	RNA	SNP	G	G	C			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr11:3427765G>C	ENST00000529482.1	+	0	882									tumor suppressing subtransferable candidate 2 pseudogene																		CACACGTCCTGCAGTGGCCTG	0.602																																						ENST00000529482.1																			0																																																			0							g.chr11:3427765G>C			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427765G>C														0	882	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.602	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			5	175	0	0	0	1	0	5	175				
PRX	57716	broad.mit.edu	37	19	40902612	40902612	+	Silent	SNP	C	C	G	rs202113722		TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr19:40902612C>G	ENST00000324001.7	-	7	1917	c.1647G>C	c.(1645-1647)ccG>ccC	p.P549P	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	549	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.P549P(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTGACACTTTCGGCAGCTGTA	0.577																																						ENST00000324001.7																			1	Substitution - coding silent(1)	p.P549P(1)	ovary(1)	breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47						c.(1645-1647)ccG>ccC		periaxin							89.0	102.0	97.0					19																	40902612		2202	4297	6499	SO:0001819	synonymous_variant	57716				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	g.chr19:40902612C>G	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.1647G>C	19.37:g.40902612C>G						PRX_ENST00000291825.7_3'UTR	p.P549P	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		7	1917	-			549			55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].		Q9BXL9|Q9HCF2	Silent	SNP	ENST00000324001.7	37	c.1647G>C	CCDS33028.1																																																																																				0.577	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956		9	719	0	0	0	1	0	9	719				
EEF1B2	1933	broad.mit.edu	37	2	207025366	207025366	+	Silent	SNP	G	G	A			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr2:207025366G>A	ENST00000392222.2	+	2	510	c.135G>A	c.(133-135)ccG>ccA	p.P45P	NDUFS1_ENST00000440274.1_5'Flank|NDUFS1_ENST00000423725.1_5'Flank|NDUFS1_ENST00000432169.1_5'Flank|EEF1B2_ENST00000236957.5_Silent_p.P45P|SNORA41_ENST00000384675.1_RNA|NDUFS1_ENST00000455934.2_5'Flank|NDUFS1_ENST00000457011.1_5'Flank|NDUFS1_ENST00000233190.6_5'Flank|SNORD51_ENST00000384320.2_RNA|NDUFS1_ENST00000449699.1_5'Flank|EEF1B2_ENST00000392221.1_Silent_p.P45P	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	45	GST C-terminal.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)	translation elongation factor activity (GO:0003746)	p.P45P(5)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						CCAGCCCACCGCCTGCCGACT	0.448																																						ENST00000392222.2																			5	Substitution - coding silent(5)	p.P45P(5)	kidney(2)|endometrium(2)|lung(1)	breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						c.(133-135)ccG>ccA		eukaryotic translation elongation factor 1 beta 2							109.0	99.0	102.0					2																	207025366		2203	4300	6503	SO:0001819	synonymous_variant	1933					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	g.chr2:207025366G>A	X60489	CCDS2367.1	2q33.3	2011-04-28			ENSG00000114942	ENSG00000114942			3208	protein-coding gene	gene with protein product		600655				8250921	Standard	NM_001959		Approved		uc002vbf.1	P24534	OTTHUMG00000132891	ENST00000392222.2:c.135G>A	2.37:g.207025366G>A						EEF1B2_ENST00000392221.1_Silent_p.P45P|EEF1B2_ENST00000236957.5_Silent_p.P45P	p.P45P	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN			2	510	+			45			GST C-terminal.		A8K795|Q6IBH9	Silent	SNP	ENST00000392222.2	37	c.135G>A	CCDS2367.1																																																																																				0.448	EEF1B2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336436.1	NM_001037663		9	375	0	0	0	1	0	9	375				
SIGLEC11	114132	broad.mit.edu	37	19	50462043	50462043	+	Missense_Mutation	SNP	C	C	T	rs201115105		TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr19:50462043C>T	ENST00000447370.2	-	7	1310	c.1220G>A	c.(1219-1221)gGa>gAa	p.G407E	SIGLEC11_ENST00000426971.2_Missense_Mutation_p.G407E|CTC-326K19.6_ENST00000451973.1_5'Flank	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	407	Ig-like C2-type 3.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		CACGGTCTGTCCCCACCGGGT	0.682																																						ENST00000447370.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32						c.(1219-1221)gGa>gAa		sialic acid binding Ig-like lectin 11							33.0	38.0	36.0					19																	50462043		2203	4300	6503	SO:0001583	missense	114132				cell adhesion	integral to membrane	sugar binding	g.chr19:50462043C>T	AF337818	CCDS12790.2, CCDS46150.1	19q13.3	2013-01-29			ENSG00000161640	ENSG00000161640		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15622	protein-coding gene	gene with protein product		607157				11986327	Standard	NM_052884		Approved		uc010ybi.2	Q96RL6	OTTHUMG00000157077	ENST00000447370.2:c.1220G>A	19.37:g.50462043C>T	ENSP00000412361:p.Gly407Glu					SIGLEC11_ENST00000426971.2_Missense_Mutation_p.G407E	p.G407E	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)	7	1310	-		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)	407			Ig-like C2-type 3.			Missense_Mutation	SNP	ENST00000447370.2	37	c.1220G>A	CCDS12790.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.387|6.387	0.439559|0.439559	0.12104|0.12104	.|.	.|.	ENSG00000161640|ENSG00000161640	ENST00000426971|ENST00000447370;ENST00000458019	.|T	.|0.15487	.|2.42	2.45|2.45	-4.91|-4.91	0.03085|0.03085	.|Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.|3.276290	.|0.00567	.|N	.|0.000300	T|T	0.18635|0.18635	0.0447|0.0447	M|M	0.66297|0.66297	2.02|2.02	0.09310|0.09310	N|N	1|1	.|B;B	.|0.32324	.|0.036;0.364	.|B;B	.|0.34722	.|0.063;0.188	T|T	0.21381|0.21381	-1.0247|-1.0247	5|10	.|0.40728	.|T	.|0.16	.|.	4.0021|4.0021	0.09584|0.09584	0.0:0.3472:0.3769:0.2759|0.0:0.3472:0.3769:0.2759	.|.	.|407;407	.|Q96RL6-2;Q96RL6	.|.;SIG11_HUMAN	N|E	397|407	.|ENSP00000412361:G407E	.|ENSP00000412361:G407E	D|G	-|-	1|2	0|0	SIGLEC11|SIGLEC11	55153855|55153855	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.003000|0.003000	0.03518|0.03518	-0.108000|-0.108000	0.10857|0.10857	-1.085000|-1.085000	0.03088|0.03088	-0.300000|-0.300000	0.09419|0.09419	GAC|GGA		0.682	SIGLEC11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347382.1	NM_052884		4	205	0	0	0	1	0	4	205				
ZNF347	84671	broad.mit.edu	37	19	53644061	53644061	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr19:53644061C>T	ENST00000334197.7	-	5	2088	c.2020G>A	c.(2020-2022)Gtt>Att	p.V674I	ZNF347_ENST00000601469.2_Missense_Mutation_p.V675I|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000452676.2_Missense_Mutation_p.V675I	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	674					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(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		CCAGTATGAACTCTCCGATGT	0.423																																					Melanoma(64;205 1597 17324 45721)	ENST00000452676.2																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23						c.(2023-2025)Gtt>Att		zinc finger protein 347							160.0	146.0	151.0					19																	53644061		2203	4300	6503	SO:0001583	missense	84671				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53644061C>T	AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"""Zinc fingers, C2H2-type"", ""-"""	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.2020G>A	19.37:g.53644061C>T	ENSP00000334146:p.Val674Ile					ZNF347_ENST00000601469.2_Missense_Mutation_p.V675I|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000334197.7_Missense_Mutation_p.V674I	p.V675I	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN		GBM - Glioblastoma multiforme(134;0.0179)	5	2449	-			674					B3KU77|B9EG59|G5E9N4|Q8TCN1	Missense_Mutation	SNP	ENST00000334197.7	37	c.2023G>A	CCDS33097.1	.	.	.	.	.	.	.	.	.	.	C	0.021	-1.427580	0.01117	.	.	ENSG00000197937	ENST00000334197;ENST00000452676	T;T	0.07688	3.17;3.17	3.01	-2.5	0.06384	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02727	0.0082	N	0.10645	0.015	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.001	T	0.44097	-0.9350	9	0.02654	T	1	.	4.6709	0.12689	0.0:0.2991:0.1577:0.5431	.	675;674	G5E9N4;Q96SE7	.;ZN347_HUMAN	I	674;675	ENSP00000334146:V674I;ENSP00000405218:V675I	ENSP00000334146:V674I	V	-	1	0	ZNF347	58335873	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.544000	0.06077	-0.760000	0.04677	-0.290000	0.09829	GTT		0.423	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584		7	636	0	0	0	1	0	7	636				
TMEM257	9142	broad.mit.edu	37	X	144909364	144909364	+	Silent	SNP	A	A	C			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chrX:144909364A>C	ENST00000408967.2	+	1	437	c.169A>C	c.(169-171)Agg>Cgg	p.R57R		NM_004709.2	NP_004700.1	O96002	TM257_HUMAN	transmembrane protein 257	57						integral component of membrane (GO:0016021)											ATTTTATTTTAGGATTTTTAT	0.328																																						ENST00000408967.2																			0											c.(169-171)Agg>Cgg		transmembrane protein 257							82.0	82.0	82.0					X																	144909364		2203	4300	6503	SO:0001819	synonymous_variant	9142							g.chrX:144909364A>C	Y08902	CCDS14681.1	Xq27.3	2012-12-03	2012-12-03	2012-12-03	ENSG00000221870	ENSG00000221870			2562	protein-coding gene	gene with protein product		300565	"""chromosome X open reading frame 1"""	CXorf1		9881668	Standard	NM_004709		Approved		uc004fch.3	O96002	OTTHUMG00000159605	ENST00000408967.2:c.169A>C	X.37:g.144909364A>C							p.R57R	NM_004709.2	NP_004700.1					1	437	+								Q14CW0	Silent	SNP	ENST00000408967.2	37	c.169A>C	CCDS14681.1																																																																																				0.328	TMEM257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356465.1	NM_004709		76	105	0	0	0	1	0	76	105				
FBLN2	2199	broad.mit.edu	37	3	13679189	13679189	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr3:13679189G>A	ENST00000295760.7	+	17	3394	c.3325G>A	c.(3325-3327)Gcg>Acg	p.A1109T	FBLN2_ENST00000492059.1_Missense_Mutation_p.A1156T|FBLN2_ENST00000535798.1_Missense_Mutation_p.A1135T|FBLN2_ENST00000404922.3_Missense_Mutation_p.A1156T	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	1109	Domain III.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)	p.A1156T(2)|p.A575T(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			CATTGGCCCCGCGCCAGCCTT	0.622																																						ENST00000404922.3																			4	Substitution - Missense(4)	p.A1156T(2)|p.A575T(2)	large_intestine(2)|prostate(2)	haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24						c.(3466-3468)Gcg>Acg		fibulin 2							43.0	48.0	46.0					3																	13679189		2154	4245	6399	SO:0001583	missense	2199					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr3:13679189G>A	X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"""Fibulins"""	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.3325G>A	3.37:g.13679189G>A	ENSP00000295760:p.Ala1109Thr					FBLN2_ENST00000492059.1_Missense_Mutation_p.A1156T|FBLN2_ENST00000295760.7_Missense_Mutation_p.A1109T|FBLN2_ENST00000535798.1_Missense_Mutation_p.A1135T	p.A1156T	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)		18	3585	+			1109			Domain III.		B7Z9C5|Q8IUI0|Q8IUI1	Missense_Mutation	SNP	ENST00000295760.7	37	c.3466G>A	CCDS46762.1	.	.	.	.	.	.	.	.	.	.	G	12.47	1.946543	0.34377	.	.	ENSG00000163520	ENST00000535798;ENST00000404922;ENST00000295760;ENST00000492059	T;T;T;T	0.79554	-1.28;-1.24;-1.19;-1.24	4.6	2.63	0.31362	.	0.194173	0.46442	D	0.000286	T	0.44871	0.1314	N	0.01729	-0.75	0.35567	D	0.805155	B;P;P	0.48998	0.313;0.918;0.72	B;B;B	0.34138	0.058;0.176;0.131	T	0.54221	-0.8326	10	0.14656	T	0.56	.	5.867	0.18781	0.1026:0.0:0.5213:0.376	.	1109;1156;1135	P98095;P98095-2;F5H1F3	FBLN2_HUMAN;.;.	T	1135;1156;1109;1156	ENSP00000445705:A1135T;ENSP00000384169:A1156T;ENSP00000295760:A1109T;ENSP00000420042:A1156T	ENSP00000295760:A1109T	A	+	1	0	FBLN2	13654190	0.993000	0.37304	0.747000	0.31113	0.616000	0.37450	3.099000	0.50267	1.157000	0.42530	0.462000	0.41574	GCG		0.622	FBLN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340083.3	NM_001004019		6	143	0	0	0	1	0	6	143				
PPP4R2	151987	broad.mit.edu	37	3	73047308	73047308	+	Splice_Site	SNP	A	A	G	rs150423598		TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr3:73047308A>G	ENST00000356692.5	+	2	368	c.115A>G	c.(115-117)Atg>Gtg	p.M39V	PPP4R2_ENST00000295862.9_5'UTR|PPP4R2_ENST00000394284.3_Splice_Site_p.I39V|PPP4R2_ENST00000495566.1_Splice_Site_p.M39V			Q9NY27	PP4R2_HUMAN	protein phosphatase 4, regulatory subunit 2	39					cellular protein modification process (GO:0006464)|hematopoietic progenitor cell differentiation (GO:0002244)|mRNA processing (GO:0006397)|regulation of catalytic activity (GO:0050790)|regulation of double-strand break repair via homologous recombination (GO:0010569)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)	protein binding, bridging (GO:0030674)|protein phosphatase type 4 regulator activity (GO:0030362)			breast(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)|urinary_tract(2)	12		Prostate(10;0.0187)|Lung SC(41;0.236)		Epithelial(33;1.76e-07)|BRCA - Breast invasive adenocarcinoma(55;9.42e-05)|LUSC - Lung squamous cell carcinoma(21;0.00211)|Lung(16;0.00643)|KIRC - Kidney renal clear cell carcinoma(39;0.0164)|Kidney(39;0.0193)|OV - Ovarian serous cystadenocarcinoma(275;0.031)		TGGAGAAACAATGTGAGTTGA	0.348																																						ENST00000356692.5																			0				breast(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)|urinary_tract(2)	12						c.e2+1		protein phosphatase 4, regulatory subunit 2		A	VAL/MET	0,4406		0,0,2203	94.0	96.0	95.0		115	5.5	1.0	3	dbSNP_134	95	1,8599	1.2+/-3.3	0,1,4299	no	missense-near-splice	PPP4R2	NM_174907.2	21	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign	39/418	73047308	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	151987				mRNA processing|protein modification process|regulation of double-strand break repair via homologous recombination|RNA splicing	centrosome|nucleus|protein phosphatase 4 complex	protein binding, bridging|protein phosphatase type 4 regulator activity	g.chr3:73047308A>G	AJ271448	CCDS2917.1	3q29	2010-06-18			ENSG00000163605	ENSG00000163605		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	18296	protein-coding gene	gene with protein product		613822				10769191	Standard	NM_174907		Approved		uc003dph.1	Q9NY27	OTTHUMG00000158816	ENST00000356692.5:c.116+1A>G	3.37:g.73047308A>G						PPP4R2_ENST00000394284.3_Splice_Site_p.I39_splice|PPP4R2_ENST00000295862.9_5'UTR|PPP4R2_ENST00000495566.1_Splice_Site_p.M39_splice	p.M39_splice			Q9NY27	PP4R2_HUMAN		Epithelial(33;1.76e-07)|BRCA - Breast invasive adenocarcinoma(55;9.42e-05)|LUSC - Lung squamous cell carcinoma(21;0.00211)|Lung(16;0.00643)|KIRC - Kidney renal clear cell carcinoma(39;0.0164)|Kidney(39;0.0193)|OV - Ovarian serous cystadenocarcinoma(275;0.031)	2	368	+		Prostate(10;0.0187)|Lung SC(41;0.236)	39					A8K1I6|Q2TAJ9|Q498B8|Q8WXX6	Splice_Site	SNP	ENST00000356692.5	37	c.116_splice	CCDS2917.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.536|9.536	1.112046|1.112046	0.20795|0.20795	0.0|0.0	1.16E-4|1.16E-4	ENSG00000163605|ENSG00000163605	ENST00000394284|ENST00000356692;ENST00000488810;ENST00000495566;ENST00000476505	T|T;T;T;T	0.40756|0.39406	1.02|1.08;1.08;1.08;1.08	5.46|5.46	5.46|5.46	0.80206|0.80206	.|.	.|0.122413	.|0.64402	.|D	.|0.000001	T|T	0.25606|0.25606	0.0623|0.0623	N|N	0.20328|0.20328	0.56|0.56	0.80722|0.80722	D|D	1|1	B|B	0.02656|0.02656	0.0|0.0	B|B	0.01281|0.04013	0.0|0.001	T|T	0.11179|0.11179	-1.0598|-1.0598	8|9	.|.	.|.	.|.	.|.	9.1019|9.1019	0.36673|0.36673	0.9171:0.0:0.0829:0.0|0.9171:0.0:0.0829:0.0	.|.	39|39	Q9NY27-2|Q9NY27	.|PP4R2_HUMAN	V|V	39|39;39;39;1	ENSP00000377825:I39V|ENSP00000349124:M39V;ENSP00000418750:M39V;ENSP00000418675:M39V;ENSP00000420098:M1V	.|.	I|M	+|+	1|1	0|0	PPP4R2|PPP4R2	73129998|73129998	0.996000|0.996000	0.38824|0.38824	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	3.326000|3.326000	0.52037|0.52037	2.077000|2.077000	0.62373|0.62373	0.533000|0.533000	0.62120|0.62120	ATT|ATG		0.348	PPP4R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352321.1	NM_174907	Missense_Mutation	70	475	0	0	0	1	0	70	475				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			0							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		9	190	0	0	0	1	0	9	190				
LILRP2	79166	broad.mit.edu	37	19	55221543	55221543	+	RNA	SNP	T	T	G	rs45452596	byFrequency	TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr19:55221543T>G	ENST00000413439.1	+	0	1323									leukocyte immunoglobulin-like receptor pseudogene 2																		CCTGTGAGGGTCTCCCACGGG	0.662													.|||	15	0.00299521	0.0	0.0086	5008	,	,		16447	0.0		0.006	False		,,,				2504	0.0031				Ovarian(107;788 1543 20399 31552 46707)	ENST00000413439.1																			0																																																			0							g.chr19:55221543T>G	AF072100		19q13.4	2010-02-17			ENSG00000240258	ENSG00000170858		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"""	15497	pseudogene	pseudogene						10941842	Standard	NR_003061		Approved	ILT10, CD85m	uc002qgs.1		OTTHUMG00000065886		19.37:g.55221543T>G														0	1323	+									RNA	SNP	ENST00000413439.1	37																																																																																						0.662	LILRP2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000141240.2	NM_024317		5	204	0	0	0	1	0	5	204				
BMS1P20	96610	broad.mit.edu	37	22	22664743	22664743	+	RNA	SNP	G	G	A	rs371682346		TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr22:22664743G>A	ENST00000426066.1	+	0	924					NR_027293.1				BMS1 pseudogene 20																		CAGACTAAAGGCAAACAAGGA	0.498																																						ENST00000426066.1																			0																																																			0							g.chr22:22664743G>A			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664743G>A								NR_027293.1						0	924	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.498	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			5	125	0	0	0	1	0	5	125				
EVC	2121	broad.mit.edu	37	4	5800472	5800472	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr4:5800472C>T	ENST00000264956.6	+	15	2441	c.2257C>T	c.(2257-2259)Cgg>Tgg	p.R753W	EVC_ENST00000382674.2_Missense_Mutation_p.R753W|EVC_ENST00000515113.1_3'UTR	NM_153717.2	NP_714928.1	P57679	EVC_HUMAN	Ellis van Creveld syndrome	753					cartilage development (GO:0051216)|endochondral bone growth (GO:0003416)|muscle organ development (GO:0007517)|positive regulation of smoothened signaling pathway (GO:0045880)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224)	ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				GGTGCATGCACGGAATGCAGC	0.637																																						ENST00000382674.2																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28						c.(2257-2259)Cgg>Tgg		Ellis van Creveld syndrome							23.0	20.0	21.0					4																	5800472		2194	4285	6479	SO:0001583	missense	2121				muscle organ development	integral to membrane		g.chr4:5800472C>T	AF216184	CCDS3383.1	4p16	2008-07-03			ENSG00000072840	ENSG00000072840			3497	protein-coding gene	gene with protein product		604831				10700184	Standard	NM_153717		Approved	DWF-1	uc003gil.1	P57679	OTTHUMG00000090427	ENST00000264956.6:c.2257C>T	4.37:g.5800472C>T	ENSP00000264956:p.Arg753Trp					EVC_ENST00000264956.6_Missense_Mutation_p.R753W|EVC_ENST00000515113.1_3'UTR	p.R753W			P57679	EVC_HUMAN			15	2441	+		Myeloproliferative disorder(84;0.117)	753						Missense_Mutation	SNP	ENST00000264956.6	37	c.2257C>T	CCDS3383.1	.	.	.	.	.	.	.	.	.	.	C	12.61	1.988209	0.35036	.	.	ENSG00000072840	ENST00000264956;ENST00000382674	T;T	0.59906	0.23;0.23	5.08	4.21	0.49690	.	0.273076	0.32640	N	0.005837	T	0.72334	0.3447	M	0.66939	2.045	0.38150	D	0.938729	D	0.89917	1.0	D	0.87578	0.998	T	0.76602	-0.2899	10	0.62326	D	0.03	.	12.2208	0.54433	0.178:0.822:0.0:0.0	.	753	P57679	EVC_HUMAN	W	753	ENSP00000264956:R753W;ENSP00000372120:R753W	ENSP00000264956:R753W	R	+	1	2	EVC	5851373	0.143000	0.22626	0.024000	0.17045	0.027000	0.11550	0.701000	0.25616	1.068000	0.40764	0.561000	0.74099	CGG		0.637	EVC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206859.1			8	74	0	0	0	1	0	8	74				
WDR48	57599	broad.mit.edu	37	3	39136218	39136218	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr3:39136218G>A	ENST00000302313.5	+	19	2046	c.2018G>A	c.(2017-2019)cGt>cAt	p.R673H	WDR48_ENST00000396258.3_Missense_Mutation_p.R591H|WDR48_ENST00000544962.1_Missense_Mutation_p.R398H|WDR48_ENST00000418020.1_Missense_Mutation_p.R117H|WDR48_ENST00000466405.1_3'UTR	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN	WD repeat domain 48	673					double-strand break repair via homologous recombination (GO:0000724)|embryonic organ development (GO:0048568)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|positive regulation of epithelial cell proliferation (GO:0050679)|protein deubiquitination (GO:0016579)|regulation of protein monoubiquitination (GO:1902525)|seminiferous tubule development (GO:0072520)|single fertilization (GO:0007338)|skeletal system morphogenesis (GO:0048705)|skin development (GO:0043588)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)				breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CTCCATTACCGTCAGAAGTCC	0.473																																						ENST00000302313.5																			0				breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						c.(2017-2019)cGt>cAt		WD repeat domain 48							142.0	136.0	138.0					3																	39136218		2203	4300	6503	SO:0001583	missense	57599				interspecies interaction between organisms|protein deubiquitination	lysosome|nucleus	protein binding	g.chr3:39136218G>A	AF468833	CCDS33738.1	3p21.33	2014-06-16			ENSG00000114742	ENSG00000114742		"""WD repeat domain containing"""	30914	protein-coding gene	gene with protein product		612167				10819331, 12196293, 24482476	Standard	NM_020839		Approved	KIAA1449, P80, SPG60	uc003cit.3	Q8TAF3	OTTHUMG00000155972	ENST00000302313.5:c.2018G>A	3.37:g.39136218G>A	ENSP00000307491:p.Arg673His					WDR48_ENST00000544962.1_Missense_Mutation_p.R398H|WDR48_ENST00000466405.1_3'UTR|WDR48_ENST00000396258.3_Missense_Mutation_p.R591H|WDR48_ENST00000418020.1_Missense_Mutation_p.R117H	p.R673H	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)	19	2046	+			673					B4DM86|B4DQI2|B4DY84|Q63HJ2|Q658Y1|Q8N3Z1|Q9NSK8|Q9P279	Missense_Mutation	SNP	ENST00000302313.5	37	c.2018G>A	CCDS33738.1	.	.	.	.	.	.	.	.	.	.	G	35	5.507838	0.96386	.	.	ENSG00000114742	ENST00000302313;ENST00000544962;ENST00000396258;ENST00000418020	T;D;T	0.92699	0.47;-3.09;0.2	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.96355	0.8811	M	0.79926	2.475	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.74674	0.984;0.961;0.961;0.975	D	0.96242	0.9176	10	0.87932	D	0	-14.2076	20.1865	0.98220	0.0:0.0:1.0:0.0	.	398;591;664;673	Q8TAF3-5;Q8TAF3-4;Q8TAF3-3;Q8TAF3	.;.;.;WDR48_HUMAN	H	673;398;591;117	ENSP00000307491:R673H;ENSP00000445187:R398H;ENSP00000379557:R591H	ENSP00000307491:R673H	R	+	2	0	WDR48	39111222	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	9.799000	0.99117	2.775000	0.95449	0.655000	0.94253	CGT		0.473	WDR48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342529.1	NM_020839		72	370	0	0	0	1	0	72	370				
ADAMTS9	56999	broad.mit.edu	37	3	64526867	64526867	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr3:64526867G>A	ENST00000498707.1	-	36	5767	c.5425C>T	c.(5425-5427)Cgg>Tgg	p.R1809W	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.R1781W	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1809	GON. {ECO:0000255|PROSITE- ProRule:PRU00383}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TCATCGCGCCGGCTCCCGTTA	0.473																																						ENST00000498707.1																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100						c.(5425-5427)Cgg>Tgg		ADAM metallopeptidase with thrombospondin type 1 motif, 9							75.0	78.0	77.0					3																	64526867		2203	4300	6503	SO:0001583	missense	56999				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr3:64526867G>A	AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.5425C>T	3.37:g.64526867G>A	ENSP00000418735:p.Arg1809Trp					ADAMTS9_ENST00000295903.4_Missense_Mutation_p.R1781W	p.R1809W	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)	36	5767	-		Lung NSC(201;0.00682)	1809			GON.		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	ENST00000498707.1	37	c.5425C>T	CCDS2903.1	.	.	.	.	.	.	.	.	.	.	G	16.56	3.156860	0.57259	.	.	ENSG00000163638	ENST00000295903;ENST00000498707	T;T	0.19394	2.15;2.15	5.73	3.76	0.43208	Peptidase M12B, GON-ADAMTSs (2);	0.000000	0.85682	D	0.000000	T	0.49779	0.1577	M	0.86864	2.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.57015	-0.7883	10	0.87932	D	0	.	13.0992	0.59210	0.0:0.0:0.6673:0.3327	.	1781;1809	B7ZVX9;Q9P2N4	.;ATS9_HUMAN	W	1781;1809	ENSP00000295903:R1781W;ENSP00000418735:R1809W	ENSP00000295903:R1781W	R	-	1	2	ADAMTS9	64501907	1.000000	0.71417	0.998000	0.56505	0.359000	0.29487	2.444000	0.44890	2.706000	0.92434	0.655000	0.94253	CGG		0.473	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1			83	380	0	0	0	1	0	83	380				
ABCG1	9619	broad.mit.edu	37	21	43706012	43706012	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr21:43706012A>G	ENST00000361802.2	+	8	1026	c.881A>G	c.(880-882)cAa>cGa	p.Q294R	ABCG1_ENST00000398449.3_Missense_Mutation_p.Q294R|ABCG1_ENST00000343687.3_Missense_Mutation_p.Q305R|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000398457.2_Missense_Mutation_p.Q296R|ABCG1_ENST00000398437.1_Missense_Mutation_p.Q440R|ABCG1_ENST00000340588.4_Missense_Mutation_p.Q402R|ABCG1_ENST00000347800.2_Missense_Mutation_p.Q291R	NM_004915.3	NP_004906.3	P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	294	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				amyloid precursor protein catabolic process (GO:0042987)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|detection of hormone stimulus (GO:0009720)|glycoprotein transport (GO:0034436)|high-density lipoprotein particle remodeling (GO:0034375)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of cholesterol efflux (GO:0010875)|regulation of cholesterol esterification (GO:0010872)|regulation of transcription, DNA-templated (GO:0006355)|response to high density lipoprotein particle (GO:0055099)|response to lipid (GO:0033993)|response to organic substance (GO:0010033)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|glycoprotein transporter activity (GO:0034437)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sterol-transporting ATPase activity (GO:0034041)|toxin transporter activity (GO:0019534)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	AGTCAAGGACAATGTGTGTAC	0.493																																						ENST00000398437.1																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29						c.(1318-1320)cAa>cGa		ATP-binding cassette, sub-family G (WHITE), member 1	Adenosine triphosphate(DB00171)						235.0	238.0	237.0					21																	43706012		2203	4300	6503	SO:0001583	missense	9619				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity	g.chr21:43706012A>G	U34919	CCDS13681.1, CCDS13682.1, CCDS13683.1, CCDS42937.1, CCDS42938.1	21q22.3	2012-03-14			ENSG00000160179	ENSG00000160179		"""ATP binding cassette transporters / subfamily G"""	73	protein-coding gene	gene with protein product	"""ATP-binding cassette transporter 8"""	603076				8659545, 16870176	Standard	NM_016818		Approved	ABC8	uc002zaq.3	P45844	OTTHUMG00000086791	ENST00000361802.2:c.881A>G	21.37:g.43706012A>G	ENSP00000354995:p.Gln294Arg					ABCG1_ENST00000340588.4_Missense_Mutation_p.Q402R|ABCG1_ENST00000398449.3_Missense_Mutation_p.Q294R|ABCG1_ENST00000398457.2_Missense_Mutation_p.Q296R|ABCG1_ENST00000343687.3_Missense_Mutation_p.Q305R|ABCG1_ENST00000361802.2_Missense_Mutation_p.Q294R|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000347800.2_Missense_Mutation_p.Q291R	p.Q440R			P45844	ABCG1_HUMAN			9	1467	+			294			ABC transmembrane type-2.		Q86SU8|Q96L76|Q9BXK6|Q9BXK7|Q9BXK8|Q9BXK9|Q9BXL0|Q9BXL1|Q9BXL2|Q9BXL3|Q9BXL4	Missense_Mutation	SNP	ENST00000361802.2	37	c.1319A>G	CCDS13682.1	.	.	.	.	.	.	.	.	.	.	A	17.08	3.296969	0.60086	.	.	ENSG00000160179	ENST00000398457;ENST00000347800;ENST00000398449;ENST00000361802;ENST00000343687;ENST00000398437;ENST00000340588	T;T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89;0.89	4.04	4.04	0.47022	ABC transporter-like (1);	0.000000	0.85682	D	0.000000	T	0.29389	0.0732	N	0.00841	-1.15	0.80722	D	1	B;B;D;B;B;D	0.67145	0.11;0.02;0.996;0.057;0.049;0.981	B;B;P;B;B;D	0.67900	0.074;0.032;0.889;0.032;0.061;0.954	T	0.44787	-0.9305	9	.	.	.	-14.5189	13.2943	0.60288	1.0:0.0:0.0:0.0	.	305;305;294;294;291;296	B4DPT7;P45844-2;P45844;P45844-4;P45844-5;P45844-3	.;.;ABCG1_HUMAN;.;.;.	R	296;291;294;294;305;440;402	ENSP00000381475:Q296R;ENSP00000291524:Q291R;ENSP00000381467:Q294R;ENSP00000354995:Q294R;ENSP00000339744:Q305R;ENSP00000381464:Q440R;ENSP00000343820:Q402R	.	Q	+	2	0	ABCG1	42579081	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	8.449000	0.90337	1.581000	0.49865	0.482000	0.46254	CAA		0.493	ABCG1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195318.2	NM_207174		113	795	0	0	0	1	0	113	795				
TUBB8P7	197331	broad.mit.edu	37	16	90162513	90162513	+	RNA	SNP	T	T	C			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr16:90162513T>C	ENST00000564451.1	+	0	1866				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.N415N(2)									GCAACATGAATGACCTGGTGT	0.537																																						ENST00000567960.1																			2	Substitution - coding silent(2)	p.N415N(2)	prostate(1)|kidney(1)																																																0							g.chr16:90162513T>C			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162513T>C						TUBB8P7_ENST00000564451.1_RNA								0	1249	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.537	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		9	426	0	0	0	1	0	9	426				
DLG4	1742	broad.mit.edu	37	17	7100076	7100076	+	Splice_Site	SNP	C	C	T			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr17:7100076C>T	ENST00000399506.2	-	9	1274	c.1083G>A	c.(1081-1083)tcG>tcA	p.S361S	DLG4_ENST00000302955.6_Splice_Site_p.S358S|DLG4_ENST00000399510.2_Splice_Site_p.S404S			P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	361	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|axon guidance (GO:0007411)|dendritic spine morphogenesis (GO:0060997)|establishment of protein localization (GO:0045184)|learning (GO:0007612)|locomotory exploration behavior (GO:0035641)|negative regulation of receptor internalization (GO:0002091)|nervous system development (GO:0007399)|neuromuscular process controlling balance (GO:0050885)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synaptic transmission (GO:0050806)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|receptor localization to synapse (GO:0097120)|regulation of grooming behavior (GO:2000821)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|signal transduction (GO:0007165)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vocalization behavior (GO:0071625)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|juxtaparanode region of axon (GO:0044224)|neuron projection terminus (GO:0044306)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	acetylcholine receptor binding (GO:0033130)|beta-1 adrenergic receptor binding (GO:0031697)|D1 dopamine receptor binding (GO:0031748)|ionotropic glutamate receptor binding (GO:0035255)|P2Y1 nucleotide receptor binding (GO:0031812)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein phosphatase binding (GO:0019903)|scaffold protein binding (GO:0097110)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18					Guanidine(DB00536)	CTTCCCTCACCGACAGGATCT	0.667																																						ENST00000399510.2																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						c.e11+1		discs, large homolog 4 (Drosophila)							12.0	15.0	14.0					17																	7100076		2039	4180	6219	SO:0001630	splice_region_variant	1742				axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding	g.chr17:7100076C>T	U83192	CCDS45599.1, CCDS45600.1	17p13.1	2008-12-15	2001-12-04		ENSG00000132535	ENSG00000132535			2903	protein-coding gene	gene with protein product		602887				9286702	Standard	NM_001128827		Approved	PSD-95, PSD95, SAP90, SAP-90	uc010cly.3	P78352	OTTHUMG00000134327	ENST00000399506.2:c.1083+1G>A	17.37:g.7100076C>T						DLG4_ENST00000302955.6_Splice_Site_p.S358_splice|DLG4_ENST00000399506.2_Splice_Site_p.S361_splice	p.S404_splice	NM_001365.3	NP_001356.1	P78352	DLG4_HUMAN			11	2064	-			361					B7Z1S1|G5E939|Q92941|Q9UKK8	Splice_Site	SNP	ENST00000399506.2	37	c.1212_splice																																																																																					0.667	DLG4-002	KNOWN	non_canonical_TEC|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000259419.2	NM_001365	Silent	5	37	0	0	0	1	0	5	37				
ZNF93	81931	broad.mit.edu	37	19	20045210	20045210	+	Silent	SNP	A	A	G			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr19:20045210A>G	ENST00000343769.5	+	4	1474	c.1446A>G	c.(1444-1446)aaA>aaG	p.K482K	AC007204.2_ENST00000592245.1_lincRNA	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93	482					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)			endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						AACCCTACAAATGTGAAGAAT	0.378																																						ENST00000343769.5																			0				endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						c.(1444-1446)aaA>aaG		zinc finger protein 93																																				SO:0001819	synonymous_variant	81931					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:20045210A>G	M61873	CCDS32973.1	19p12	2014-02-12	2006-05-12		ENSG00000184635	ENSG00000184635		"""Zinc fingers, C2H2-type"", ""-"""	13169	protein-coding gene	gene with protein product		603975	"""zinc finger protein 505"", ""zinc finger protein 93 (HTF34)"""	ZNF505		8467795, 2023909	Standard	NM_031218		Approved	HPF34, TF34, FLJ12488	uc002non.3	P35789	OTTHUMG00000182371	ENST00000343769.5:c.1446A>G	19.37:g.20045210A>G						AC007204.2_ENST00000592245.1_lincRNA	p.K482K	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN			4	1474	+			482					A6NMY2|B9EGT2|Q8N8Q4|Q9H9X5|Q9Y2N8	Silent	SNP	ENST00000343769.5	37	c.1446A>G	CCDS32973.1																																																																																				0.378	ZNF93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460808.2	NM_031218		5	575	0	0	0	1	0	5	575				
TRIM11	81559	broad.mit.edu	37	1	228584522	228584522	+	Intron	SNP	C	C	A			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr1:228584522C>A	ENST00000284551.6	-	5	1138				TRIM11_ENST00000493030.2_Intron|TRIM11_ENST00000366699.3_Missense_Mutation_p.V329F|TRIM11_ENST00000460651.1_Intron|RP11-245P10.8_ENST00000602963.1_RNA	NM_145214.2	NP_660215.1	Q96F44	TRI11_HUMAN	tripartite motif containing 11						defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of neurogenesis (GO:0050768)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of viral entry into host cell (GO:0046598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	18		Prostate(94;0.0724)				TTCCCAACAACCCACCACCAT	0.517																																						ENST00000366699.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	18						c.(985-987)Gtt>Ttt		tripartite motif containing 11																																				SO:0001627	intron_variant	81559				response to virus	cytoplasm|nucleus	protein binding|zinc ion binding	g.chr1:228584522C>A	AF220125	CCDS31048.1	1q42.13	2013-01-09	2011-01-25		ENSG00000154370	ENSG00000154370		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16281	protein-coding gene	gene with protein product		607868	"""tripartite motif-containing 11"""			11331580	Standard	NM_145214		Approved	RNF92, BIA1	uc001hss.3	Q96F44	OTTHUMG00000039773	ENST00000284551.6:c.859+125G>T	1.37:g.228584522C>A						RP11-245P10.8_ENST00000602963.1_RNA|TRIM11_ENST00000493030.2_Intron|TRIM11_ENST00000284551.6_Intron|TRIM11_ENST00000460651.1_Intron	p.V329F			Q96F44	TRI11_HUMAN			5	1223	-		Prostate(94;0.0724)	0			B30.2/SPRY.		A6NKE2|B2RB82|B3KUS3|B4DX88|Q5VSU1|Q8NCA6|Q9C022	Missense_Mutation	SNP	ENST00000284551.6	37	c.985G>T	CCDS31048.1	.	.	.	.	.	.	.	.	.	.	C	1.232	-0.623905	0.03636	.	.	ENSG00000154370	ENST00000366699	T	0.73258	-0.73	0.235	0.235	0.15431	.	.	.	.	.	T	0.67850	0.2937	.	.	.	0.09310	N	1	P	0.47106	0.89	P	0.49332	0.607	T	0.57568	-0.7789	7	0.49607	T	0.09	.	.	.	.	.	329	Q96F44-2	.	F	329	ENSP00000355660:V329F	ENSP00000355660:V329F	V	-	1	0	TRIM11	226651145	0.000000	0.05858	0.022000	0.16811	0.024000	0.10985	-1.151000	0.03175	0.308000	0.22923	0.313000	0.20887	GTT		0.517	TRIM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095995.3	NM_145214		3	24	1	0	0.115264	1	0.116118	3	24				
TRIOBP	11078	broad.mit.edu	37	22	38119859	38119859	+	Silent	SNP	C	C	T	rs66505048	byFrequency	TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr22:38119859C>T	ENST00000406386.3	+	7	1551	c.1296C>T	c.(1294-1296)tgC>tgT	p.C432C		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	432					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)	p.C432C(6)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GAACATCCTGCGCCCAGCGGG	0.582																																						ENST00000406386.3																			6	Substitution - coding silent(6)	p.C432C(6)	kidney(3)|cervix(1)|lung(1)|endometrium(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1294-1296)tgC>tgT		TRIO and F-actin binding protein																																				SO:0001819	synonymous_variant	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38119859C>T	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.1296C>T	22.37:g.38119859C>T						RP1-37E16.12_ENST00000455236.1_RNA	p.C432C	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			7	1551	+	Melanoma(58;0.0574)		432					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Silent	SNP	ENST00000406386.3	37	c.1296C>T	CCDS43015.1																																																																																				0.582	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			6	386	0	0	0	1	0	6	386				
RUVBL2	10856	broad.mit.edu	37	19	49507662	49507662	+	Silent	SNP	G	G	A	rs371113905	byFrequency	TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr19:49507662G>A	ENST00000595090.1	+	4	716	c.252G>A	c.(250-252)acG>acA	p.T84T	RUVBL2_ENST00000413176.2_Silent_p.T39T|RUVBL2_ENST00000601968.1_Silent_p.T39T	NM_006666.1	NP_006657.1	Q9Y230	RUVB2_HUMAN	RuvB-like AAA ATPase 2	84					ATP catabolic process (GO:0006200)|cellular response to estradiol stimulus (GO:0071392)|cellular response to UV (GO:0034644)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|establishment of protein localization to chromatin (GO:0071169)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of estrogen receptor binding (GO:0071899)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein folding (GO:0006457)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)|transcriptional activation by promoter-enhancer looping (GO:0071733)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Ino80 complex (GO:0031011)|intracellular (GO:0005622)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|NuA4 histone acetyltransferase complex (GO:0035267)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent DNA helicase activity (GO:0004003)|chromatin DNA binding (GO:0031490)|damaged DNA binding (GO:0003684)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|unfolded protein binding (GO:0051082)			large_intestine(1)|upper_aerodigestive_tract(1)	2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		CGGGGAAGACGGCCATCGCCA	0.612													G|||	5	0.000998403	0.0038	0.0	5008	,	,		15095	0.0		0.0	False		,,,				2504	0.0					ENST00000413176.2																			0				large_intestine(1)|upper_aerodigestive_tract(1)	2						c.(115-117)acG>acA		RuvB-like AAA ATPase 2		G		10,3876		0,10,1933	45.0	50.0	48.0		252	-10.3	0.7	19		48	0,8284		0,0,4142	no	coding-synonymous	RUVBL2	NM_006666.1		0,10,6075	AA,AG,GG		0.0,0.2573,0.0822		84/464	49507662	10,12160	1943	4142	6085	SO:0001819	synonymous_variant	10856				cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding	g.chr19:49507662G>A	AF155138	CCDS42588.1	19q13.3	2013-09-12	2013-09-12					"""INO80 complex subunits"", ""ATPases / AAA-type"""	10475	protein-coding gene	gene with protein product	"""reptin"", ""INO80 complex subunit J"""	604788	"""RuvB (E coli homolog)-like 2"", ""RuvB-like 2 (E. coli)"""			10428817, 10998447	Standard	XM_005258426		Approved	RVB2, TIP48, TIP49b, Reptin52, ECP51, TIH2, INO80J, Rvb2	uc002plr.1	Q9Y230		ENST00000595090.1:c.252G>A	19.37:g.49507662G>A						RUVBL2_ENST00000595090.1_Silent_p.T84T|RUVBL2_ENST00000601968.1_Silent_p.T39T	p.T39T			Q9Y230	RUVB2_HUMAN		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)	4	1265	+		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	84					B3KQ59|E7ETE5|Q6FIB9|Q6PK27|Q9Y361	Silent	SNP	ENST00000595090.1	37	c.117G>A	CCDS42588.1																																																																																				0.612	RUVBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466235.1			5	287	0	0	0	1	0	5	287				
CYP2D7	1564	broad.mit.edu	37	22	42538870	42538870	+	RNA	SNP	A	A	C	rs2982057	byFrequency	TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr22:42538870A>C	ENST00000428786.1	-	0	0				CYP2D7P1_ENST00000424775.1_RNA|CYP2D7P1_ENST00000358097.4_RNA|CYP2D7P1_ENST00000433992.1_RNA																							CCATAGCGCGACAGGAACACC	0.687													N|||	80	0.0159744	0.0023	0.0317	5008	,	,		11900	0.0109		0.0348	False		,,,				2504	0.0092					ENST00000424775.1																			0				endometrium(1)	1																																														0							g.chr22:42538870A>C																													22.37:g.42538870A>C						CYP2D7P1_ENST00000358097.4_RNA|CYP2D7P1_ENST00000433992.1_RNA								0	440	-									RNA	SNP	ENST00000428786.1	37			30	0.013736263736263736	1	0.0020325203252032522	5	0.013812154696132596	5	0.008741258741258742	19	0.025065963060686015	C	8.846	0.943329	0.18281	.	.	ENSG00000205702	ENST00000428297;ENST00000381321;ENST00000436260	.	.	.	3.26	3.26	0.37387	.	.	.	.	.	T	0.04724	0.0128	.	.	.	0.28613	N	0.908552	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.23154	-1.0196	7	0.02654	T	1	.	8.0614	0.30635	0.2422:0.7578:0.0:0.0	rs2982057	122;32	Q6XP50;F5H167	.;.	A	121;71;32	.	ENSP00000446103:S71A	S	-	1	0	CYP2D7P1	40868814	0.299000	0.24426	0.017000	0.16124	0.002000	0.02628	0.565000	0.23578	0.961000	0.38030	-0.290000	0.09829	TCG		0.687	RP4-669P10.16-001	KNOWN	basic|exp_conf	sense_intronic	sense_intronic	OTTHUMT00000320534.1			7	177	0	0	0	1	0	7	177				
RLIM	51132	broad.mit.edu	37	X	73811938	73811938	+	Silent	SNP	G	G	C	rs61754468		TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chrX:73811938G>C	ENST00000332687.6	-	4	1430	c.1212C>G	c.(1210-1212)acC>acG	p.T404T	RLIM_ENST00000349225.2_Silent_p.T404T	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	404					negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T404T(6)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCCTTAACATGGTCTGAATTG	0.413																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)	ENST00000332687.6																			6	Substitution - coding silent(6)	p.T404T(6)	lung(3)|urinary_tract(1)|kidney(1)|endometrium(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1210-1212)acC>acG		ring finger protein, LIM domain interacting							102.0	92.0	95.0					X																	73811938		2203	4300	6503	SO:0001819	synonymous_variant	51132				random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chrX:73811938G>C	AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"""RING-type (C3HC4) zinc fingers"""	13429	protein-coding gene	gene with protein product	"""ring zinc finger protein NY-REN-43antigen"", ""LIM domain interacting ring finger protein"""	300379	"""ring finger protein 12"""	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.1212C>G	X.37:g.73811938G>C						RLIM_ENST00000349225.2_Silent_p.T404T	p.T404T	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN			4	1430	-			404					B2RBQ1|D3DTE0|Q96D38|Q9Y598	Silent	SNP	ENST00000332687.6	37	c.1212C>G	CCDS14427.1																																																																																				0.413	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120		5	200	0	0	0	1	0	5	200				
URI1	8725	broad.mit.edu	37	19	30433560	30433560	+	Missense_Mutation	SNP	G	G	C			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr19:30433560G>C	ENST00000542441.2	+	1	403	c.106G>C	c.(106-108)Gag>Cag	p.E36Q	URI1_ENST00000312051.6_Missense_Mutation_p.R7S|URI1_ENST00000392271.1_5'UTR|URI1_ENST00000360605.4_Intron			O94763	RMP_HUMAN	URI1, prefoldin-like chaperone	36					cellular response to growth factor stimulus (GO:0071363)|cellular response to steroid hormone stimulus (GO:0071383)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of phosphatase activity (GO:0010923)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein folding (GO:0006457)|regulation of cell growth (GO:0001558)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to virus (GO:0009615)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, core complex (GO:0005665)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	chromatin binding (GO:0003682)|protein phosphatase inhibitor activity (GO:0004864)|RNA polymerase II transcription corepressor activity (GO:0001106)										GCTGCGCGAGGAGCAGGAAAA	0.786																																						ENST00000542441.2																			0											c.(106-108)Gag>Cag		URI1, prefoldin-like chaperone							6.0	8.0	7.0					19																	30433560		1553	3538	5091	SO:0001583	missense	8725				protein folding|regulation of transcription from RNA polymerase II promoter|response to virus	DNA-directed RNA polymerase II, core complex|prefoldin complex	transcription corepressor activity|unfolded protein binding	g.chr19:30433560G>C	AF091095	CCDS12420.1, CCDS58658.1	19q12	2012-04-17	2011-11-21	2011-11-21	ENSG00000105176	ENSG00000105176		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	13236	protein-coding gene	gene with protein product	"""unconventional prefoldin RPB5 interactor"", ""RPB5-mediating protein"", ""protein phosphatase 1, regulatory subunit 19"""	603494	"""chromosome 19 open reading frame 2"""	C19orf2		9878255, 9819440	Standard	NM_003796		Approved	RMP, NNX3, FLJ10575, URI, PPP1R19	uc002nsr.3	O94763		ENST00000542441.2:c.106G>C	19.37:g.30433560G>C	ENSP00000442436:p.Glu36Gln					URI1_ENST00000392271.1_5'UTR|URI1_ENST00000360605.4_Intron|URI1_ENST00000312051.6_Missense_Mutation_p.R7S	p.E36Q			O94763	RMP_HUMAN			1	403	+			36					A8K805|H7BY42|Q8TC23|Q9UNU3	Missense_Mutation	SNP	ENST00000542441.2	37	c.106G>C	CCDS12420.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.48|14.48	2.547386|2.547386	0.45383|0.45383	.|.	.|.	ENSG00000105176|ENSG00000105176	ENST00000542441|ENST00000312051	T|.	0.76839|.	-1.05|.	3.32|3.32	3.32|3.32	0.38043|0.38043	Prefoldin (1);|.	.|.	.|.	.|.	.|.	T|T	0.49321|0.49321	0.1550|0.1550	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	B|D	0.30482|0.54772	0.281|0.968	B|D	0.30179|0.72625	0.112|0.978	T|T	0.52480|0.52480	-0.8570|-0.8570	9|8	0.33141|0.46703	T|T	0.24|0.11	-0.4062|-0.4062	10.2972|10.2972	0.43631|0.43631	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	36|7	O94763|F8W9T0	RMP_HUMAN|.	Q|S	36|7	ENSP00000442436:E36Q|.	ENSP00000442436:E36Q|ENSP00000312530:R7S	E|R	+|+	1|3	0|2	C19orf2|C19orf2	35125400|35125400	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.961000|0.961000	0.63080|0.63080	3.268000|3.268000	0.51585|0.51585	1.821000|1.821000	0.53095|0.53095	0.305000|0.305000	0.20034|0.20034	GAG|AGG		0.786	URI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439756.1	NM_134447		14	84	0	0	0	1	0	14	84				
MDC1	9656	broad.mit.edu	37	6	30672363	30672363	+	Missense_Mutation	SNP	C	C	T	rs372525319		TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr6:30672363C>T	ENST00000376406.3	-	10	5244	c.4597G>A	c.(4597-4599)Gca>Aca	p.A1533T	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.A1269T	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1533	Interaction with the PRKDC complex.			A -> T (in Ref. 4; BAC54931/BAF31266). {ECO:0000305}.	DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						TCAGGGGCTGCGGGCACAACT	0.592								Other conserved DNA damage response genes																														ENST00000376406.3																			0				breast(2)|kidney(1)|ovary(1)	4						c.(4597-4599)Gca>Aca	Other conserved DNA damage response genes	mediator of DNA-damage checkpoint 1							118.0	136.0	130.0					6																	30672363		2203	4300	6503	SO:0001583	missense	9656				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	g.chr6:30672363C>T	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.4597G>A	6.37:g.30672363C>T	ENSP00000365588:p.Ala1533Thr					MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.A1269T	p.A1533T	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN			10	5244	-			1533	A -> T (in Ref. 4; BAC54931/BAF31266).		Interaction with the PRKDC complex.		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	ENST00000376406.3	37	c.4597G>A	CCDS34384.1	.	.	.	.	.	.	.	.	.	.	T	0.893	-0.724874	0.03158	.	.	ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000429610;ENST00000422104	T;T	0.02421	4.3;4.3	4.06	2.84	0.33178	.	.	.	.	.	T	0.00144	0.0004	N	0.00095	-2.16	0.09310	N	1	B;B	0.30542	0.284;0.001	B;B	0.19666	0.026;0.001	T	0.28870	-1.0030	9	0.02654	T	1	.	4.2762	0.10809	0.0:0.107:0.2038:0.6892	.	1269;1533	Q14676-2;Q14676	.;MDC1_HUMAN	T	1533;1269;1246;1099	ENSP00000365588:A1533T;ENSP00000365587:A1269T	ENSP00000365587:A1269T	A	-	1	0	MDC1	30780342	0.000000	0.05858	0.002000	0.10522	0.015000	0.08874	-0.039000	0.12124	0.342000	0.23796	-0.572000	0.04151	GCA		0.592	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641		6	676	0	0	0	1	0	6	676				
APEH	327	broad.mit.edu	37	3	49723596	49723596	+	IGR	SNP	G	G	A	rs200900272		TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr3:49723596G>A	ENST00000296456.5	+	0	3220				MST1_ENST00000449682.2_Missense_Mutation_p.P349L|MST1_ENST00000494828.2_5'Flank|MST1_ENST00000383728.3_3'UTR|AC099668.5_ENST00000563780.1_RNA	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)	p.P335L(5)		endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TGAGCCGTCGGGGTTCCGGCA	0.667																																						ENST00000449682.2																			5	Substitution - Missense(5)	p.P335L(5)	endometrium(3)|skin(2)	NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41						c.(1045-1047)cCc>cTc		macrophage stimulating 1 (hepatocyte growth factor-like)							12.0	16.0	15.0					3																	49723596		2189	4280	6469	SO:0001628	intergenic_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49723596G>A	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"""acylaminoacyl-peptidase"""	102645	"""N-acylaminoacyl-peptide hydrolase"""	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49723596G>A						MST1_ENST00000383728.3_3'UTR	p.P349L	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	9	1407	-			335			Kringle 3.		Q9BQ33|Q9P0Y2	Missense_Mutation	SNP	ENST00000296456.5	37	c.1046C>T	CCDS2801.1	.	.	.	.	.	.	.	.	.	.	G	35	5.499226	0.96355	.	.	ENSG00000173531	ENST00000449682	D	0.83250	-1.7	5.47	5.47	0.80525	.	0.000000	0.42053	D	0.000771	D	0.90256	0.6953	M	0.88450	2.955	0.80722	D	1	P	0.35793	0.521	P	0.46419	0.516	D	0.90879	0.4752	10	0.62326	D	0.03	.	18.9304	0.92563	0.0:0.0:1.0:0.0	.	349	G3XAK1	.	L	349	ENSP00000414287:P349L	ENSP00000414287:P349L	P	-	2	0	MST1	49698600	1.000000	0.71417	0.996000	0.52242	0.942000	0.58702	9.855000	0.99526	2.561000	0.86390	0.655000	0.94253	CCC		0.667	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			4	96	0	0	0	1	0	4	96				
ZNF345	25850	broad.mit.edu	37	19	37368703	37368703	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr19:37368703G>A	ENST00000529555.1	+	2	1759	c.971G>A	c.(970-972)aGa>aAa	p.R324K	ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000589046.1_Missense_Mutation_p.R324K|ZNF345_ENST00000420450.1_Missense_Mutation_p.R324K			Q14585	ZN345_HUMAN	zinc finger protein 345	324					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	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(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AAAGCCTTTAGAAGTGGTTCA	0.413																																						ENST00000529555.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24						c.(970-972)aGa>aAa		zinc finger protein 345							75.0	81.0	79.0					19																	37368703		2203	4300	6503	SO:0001583	missense	25850				negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleus	DNA binding|zinc ion binding	g.chr19:37368703G>A	X78933	CCDS12497.1	19q13.12	2013-01-08			ENSG00000251247	ENSG00000251247		"""Zinc fingers, C2H2-type"""	16367	protein-coding gene	gene with protein product						7865130	Standard	NM_003419		Approved	HZF10	uc002oey.4	Q14585	OTTHUMG00000048162	ENST00000529555.1:c.971G>A	19.37:g.37368703G>A	ENSP00000431202:p.Arg324Lys					ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000420450.1_Missense_Mutation_p.R324K|ZNF345_ENST00000589046.1_Missense_Mutation_p.R324K|ZNF345_ENST00000432005.2_Intron	p.R324K			Q14585	ZN345_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		2	1759	+	Esophageal squamous(110;0.183)		324						Missense_Mutation	SNP	ENST00000529555.1	37	c.971G>A	CCDS12497.1	.	.	.	.	.	.	.	.	.	.	G	11.11	1.543390	0.27563	.	.	ENSG00000251247	ENST00000420450;ENST00000529555;ENST00000344705	T;T	0.07327	3.2;3.2	3.8	2.71	0.32032	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03695	0.0105	N	0.03304	-0.355	0.09310	N	0.999994	B	0.13594	0.008	B	0.18561	0.022	T	0.39482	-0.9612	9	0.45353	T	0.12	.	5.1601	0.15056	0.117:0.2162:0.6668:0.0	.	324	Q14585	ZN345_HUMAN	K	324;324;88	ENSP00000431216:R324K;ENSP00000431202:R324K	ENSP00000442320:R88K	R	+	2	0	ZNF345	42060543	0.000000	0.05858	0.999000	0.59377	0.978000	0.69477	-1.214000	0.02988	0.857000	0.35407	0.462000	0.41574	AGA		0.413	ZNF345-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388258.1			60	341	0	0	0	1	0	60	341				
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr10:51093329C>T	ENST00000402038.3	-	4	294	c.295G>A	c.(295-297)Gca>Aca	p.A99T		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	584	A-domain.				carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	poly(ADP-ribose) glycohydrolase activity (GO:0004649)	p.A584T(1)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318																																						ENST00000402038.3																			1	Substitution - Missense(1)	p.A584T(1)	kidney(1)	endometrium(5)|kidney(2)|lung(1)|ovary(2)	10						c.(295-297)Gca>Aca		poly (ADP-ribose) glycohydrolase							235.0	183.0	198.0					10																	51093329		692	1589	2281	SO:0001583	missense	8505				carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	g.chr10:51093329C>T	AF005043	CCDS73130.1	10q11.23	2012-04-20			ENSG00000227345	ENSG00000227345	3.2.1.143		8605	protein-coding gene	gene with protein product		603501				9115250, 10449915	Standard	NM_003631		Approved		uc001jif.3	Q86W56	OTTHUMG00000018201	ENST00000402038.3:c.295G>A	10.37:g.51093329C>T	ENSP00000384408:p.Ala99Thr						p.A99T	NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN		Epithelial(53;0.213)	4	294	-			584					A5YBK3|B2RC24|B4DIU5|B4DYR4|I6RUV3|Q6E4P6|Q6E4P7|Q7Z742|Q9Y4W7	Missense_Mutation	SNP	ENST00000402038.3	37	c.295G>A		.	.	.	.	.	.	.	.	.	.	C	12.89	2.073258	0.36566	.	.	ENSG00000227345	ENST00000402038	.	.	.	3.88	2.96	0.34315	.	.	.	.	.	T	0.46678	0.1405	M	0.61703	1.905	.	.	.	B;B;P;P;P;B	0.41947	0.002;0.003;0.574;0.766;0.766;0.006	B;B;B;B;B;B	0.38616	0.006;0.006;0.191;0.179;0.277;0.01	T	0.56631	-0.7947	7	0.18710	T	0.47	-4.0352	11.9338	0.52862	0.0:0.9123:0.0:0.0877	.	502;584;135;99;124;584	Q86W56-2;Q86W56;A5YBK3;Q5SQP4;B4DX76;Q0MQR4	.;PARG_HUMAN;.;.;.;.	T	99	.	ENSP00000384408:A99T	A	-	1	0	PARG	50763335	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.907000	0.39897	0.952000	0.37798	0.407000	0.27541	GCA		0.318	PARG-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048011.2	NM_003631		5	274	0	0	0	1	0	5	274				
GK	2710	broad.mit.edu	37	X	30718984	30718984	+	Silent	SNP	G	G	A			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chrX:30718984G>A	ENST00000378943.3	+	10	974	c.795G>A	c.(793-795)gtG>gtA	p.V265V	GK_ENST00000427190.1_Silent_p.V66V|GK_ENST00000378945.3_Silent_p.V265V|GK-AS1_ENST00000464659.1_RNA|RP11-242C19.2_ENST00000497961.1_RNA|GK_ENST00000378946.3_Silent_p.V271V	NM_001128127.2	NP_001121599.1	P32189	GLPK_HUMAN	glycerol kinase	271					cellular lipid metabolic process (GO:0044255)|glucose homeostasis (GO:0042593)|glycerol catabolic process (GO:0019563)|glycerol metabolic process (GO:0006071)|glycerol-3-phosphate biosynthetic process (GO:0046167)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride metabolic process (GO:0006641)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|glycerol kinase activity (GO:0004370)			central_nervous_system(1)|large_intestine(3)	4						CTGCATTGGTGGGACAAATGT	0.353																																						ENST00000378943.3																			0				central_nervous_system(1)|large_intestine(3)	4						c.(793-795)gtG>gtA		glycerol kinase							91.0	85.0	87.0					X																	30718984		2202	4300	6502	SO:0001819	synonymous_variant	2710				glycerol-3-phosphate metabolic process|triglyceride biosynthetic process	cytosol|mitochondrial outer membrane	ATP binding|glycerol kinase activity	g.chrX:30718984G>A	X78711	CCDS14225.1, CCDS35224.1, CCDS48090.1, CCDS75963.1	Xp21.3	2014-09-17			ENSG00000198814	ENSG00000198814	2.7.1.30	"""Glycerol kinases"""	4289	protein-coding gene	gene with protein product		300474				7987308	Standard	NM_203391		Approved	GK1, GKD	uc022buj.1	P32189	OTTHUMG00000021328	ENST00000378943.3:c.795G>A	X.37:g.30718984G>A						RP11-242C19.2_ENST00000497961.1_RNA|GK_ENST00000427190.1_Silent_p.V66V|GK-AS1_ENST00000464659.1_RNA|GK_ENST00000378945.3_Silent_p.V265V|GK_ENST00000378946.3_Silent_p.V271V	p.V265V	NM_001128127.2	NP_001121599.1	P32189	GLPK_HUMAN			10	974	+			271					A6NJP5|B2R833|Q6IQ27|Q8IVR5|Q9UMP0|Q9UMP1	Silent	SNP	ENST00000378943.3	37	c.795G>A	CCDS48090.1																																																																																				0.353	GK-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056170.1	NM_000167		58	126	0	0	0	1	0	58	126				
ATG2B	55102	broad.mit.edu	37	14	96769570	96769570	+	Missense_Mutation	SNP	T	T	C	rs545591952	byFrequency	TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr14:96769570T>C	ENST00000359933.4	-	33	5758	c.4865A>G	c.(4864-4866)tAc>tGc	p.Y1622C	ATG2B_ENST00000261834.5_5'UTR	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1622					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		GCATGGCGGGTAGACTTCATG	0.433																																						ENST00000359933.4																			0				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64						c.(4864-4866)tAc>tGc		autophagy related 2B							86.0	86.0	86.0					14																	96769570		2203	4300	6503	SO:0001583	missense	55102							g.chr14:96769570T>C	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.4865A>G	14.37:g.96769570T>C	ENSP00000353010:p.Tyr1622Cys					ATG2B_ENST00000261834.5_5'UTR	p.Y1622C	NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	33	5758	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	1622					Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	ENST00000359933.4	37	c.4865A>G	CCDS9944.2	.	.	.	.	.	.	.	.	.	.	T	21.5	4.153369	0.78114	.	.	ENSG00000066739	ENST00000359933	T	0.24723	1.84	5.74	4.58	0.56647	.	0.199272	0.45361	D	0.000377	T	0.53916	0.1826	M	0.85197	2.74	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.60296	-0.7291	10	0.87932	D	0	.	12.2148	0.54400	0.1341:0.0:0.0:0.8659	.	1622	Q96BY7	ATG2B_HUMAN	C	1622	ENSP00000353010:Y1622C	ENSP00000261834:Y266C	Y	-	2	0	ATG2B	95839323	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	5.701000	0.68325	1.079000	0.41038	0.460000	0.39030	TAC		0.433	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036		35	212	0	0	0	1	0	35	212				
MARCH5	54708	broad.mit.edu	37	10	94109589	94109589	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr10:94109589A>G	ENST00000358935.2	+	5	1047	c.715A>G	c.(715-717)Atc>Gtc	p.I239V		NM_017824.4	NP_060294.1	Q9NX47	MARH5_HUMAN	membrane-associated ring finger (C3HC4) 5	239					negative regulation of cell aging (GO:0090344)|positive regulation of mitochondrial fission (GO:0090141)|protein autoubiquitination (GO:0051865)|protein localization to mitochondrion (GO:0070585)|protein polyubiquitination (GO:0000209)|regulation of mitochondrial fission (GO:0090140)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	GTPase binding (GO:0051020)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						ACAAAGGACAATCTTGGTAAG	0.348																																						ENST00000358935.2																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						c.(715-717)Atc>Gtc		membrane-associated ring finger (C3HC4) 5							105.0	101.0	102.0					10																	94109589		2203	4300	6503	SO:0001583	missense	54708				cell aging|protein autoubiquitination|protein localization in mitochondrion|protein polyubiquitination|regulation of mitochondrial fission	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	GTPase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr10:94109589A>G	BC015480	CCDS7420.1	10q23.32-q23.33	2013-01-09	2005-01-26	2005-01-27	ENSG00000198060	ENSG00000198060		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	26025	protein-coding gene	gene with protein product		610637	"""ring finger protein 153"""	RNF153		14722266	Standard	XM_005269923		Approved	FLJ20445, MARCH-V	uc001khx.1	Q9NX47	OTTHUMG00000018757	ENST00000358935.2:c.715A>G	10.37:g.94109589A>G	ENSP00000351813:p.Ile239Val						p.I239V	NM_017824.4	NP_060294.1	Q9NX47	MARH5_HUMAN			5	1047	+			239						Missense_Mutation	SNP	ENST00000358935.2	37	c.715A>G	CCDS7420.1	.	.	.	.	.	.	.	.	.	.	A	16.49	3.139263	0.56936	.	.	ENSG00000198060	ENST00000358935	T	0.46819	0.86	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.36853	0.0982	N	0.25380	0.74	0.80722	D	1	B	0.21606	0.058	B	0.15484	0.013	T	0.10917	-1.0609	10	0.27785	T	0.31	-6.4219	16.3512	0.83208	1.0:0.0:0.0:0.0	.	239	Q9NX47	MARH5_HUMAN	V	239	ENSP00000351813:I239V	ENSP00000351813:I239V	I	+	1	0	MARCH5	94099569	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.102000	0.94226	2.266000	0.75297	0.533000	0.62120	ATC		0.348	MARCH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049388.1	NM_017824		48	321	0	0	0	1	0	48	321				
DNAH3	55567	broad.mit.edu	37	16	21080894	21080894	+	Missense_Mutation	SNP	G	G	A	rs541368919	byFrequency	TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr16:21080894G>A	ENST00000261383.3	-	23	3222	c.3223C>T	c.(3223-3225)Cgc>Tgc	p.R1075C	DNAH3_ENST00000415178.1_Missense_Mutation_p.R1075C	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1075	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.R1075C(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TCTTGTATGCGAATTAGCTTT	0.458													G|||	2	0.000399361	0.0	0.0	5008	,	,		19096	0.0		0.0	False		,,,				2504	0.002					ENST00000261383.3																			2	Substitution - Missense(2)	p.R1075C(2)	large_intestine(2)	NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(3223-3225)Cgc>Tgc		dynein, axonemal, heavy chain 3							168.0	126.0	140.0					16																	21080894		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21080894G>A	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.3223C>T	16.37:g.21080894G>A	ENSP00000261383:p.Arg1075Cys					DNAH3_ENST00000415178.1_Missense_Mutation_p.R1075C	p.R1075C	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	23	3222	-			1075			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.3223C>T	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	G	11.04	1.521152	0.27211	.	.	ENSG00000158486	ENST00000261383;ENST00000415178	T;T	0.62232	0.04;0.04	5.4	4.38	0.52667	Dynein heavy chain, domain-2 (1);	0.726956	0.12981	N	0.423277	T	0.67571	0.2907	M	0.61703	1.905	0.09310	N	0.999999	D	0.71674	0.998	P	0.56916	0.809	T	0.59920	-0.7363	10	0.49607	T	0.09	.	5.2981	0.15764	0.0831:0.1449:0.6224:0.1496	.	1075	Q8TD57	DYH3_HUMAN	C	1075	ENSP00000261383:R1075C;ENSP00000394245:R1075C	ENSP00000261383:R1075C	R	-	1	0	DNAH3	20988395	0.019000	0.18553	0.931000	0.37212	0.665000	0.39181	1.662000	0.37418	2.696000	0.92011	0.655000	0.94253	CGC		0.458	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		46	313	0	0	0	1	0	46	313				
SYNE1	23345	broad.mit.edu	37	6	152539461	152539461	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr6:152539461T>C	ENST00000367255.5	-	121	22723	c.22122A>G	c.(22120-22122)atA>atG	p.I7374M	SYNE1_ENST00000341594.5_Missense_Mutation_p.I6986M|SYNE1_ENST00000265368.4_Missense_Mutation_p.I7374M|SYNE1_ENST00000423061.1_Missense_Mutation_p.I7303M|SYNE1_ENST00000356820.4_Missense_Mutation_p.I1898M|SYNE1_ENST00000448038.1_Missense_Mutation_p.I7303M	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7374					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCCCTTGTAGTATTTCTTCAG	0.433										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(22120-22122)atA>atG		spectrin repeat containing, nuclear envelope 1							221.0	230.0	227.0					6																	152539461		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152539461T>C	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.22122A>G	6.37:g.152539461T>C	ENSP00000356224:p.Ile7374Met	HNSCC(10;0.0054)				SYNE1_ENST00000423061.1_Missense_Mutation_p.I7303M|SYNE1_ENST00000265368.4_Missense_Mutation_p.I7374M|SYNE1_ENST00000448038.1_Missense_Mutation_p.I7303M|SYNE1_ENST00000341594.5_Missense_Mutation_p.I6986M|SYNE1_ENST00000356820.4_Missense_Mutation_p.I1898M	p.I7374M	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	121	22723	-		Ovarian(120;0.0955)	7374					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.22122A>G	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	T	12.11	1.839662	0.32513	.	.	ENSG00000131018	ENST00000367255;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000367251	T;T;T;T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65	5.68	-11.4	0.00090	.	0.421595	0.22458	N	0.059793	T	0.14917	0.0360	L	0.34521	1.04	0.09310	N	1	P;P;P;P	0.48764	0.915;0.915;0.896;0.915	P;P;P;P	0.52514	0.701;0.701;0.575;0.701	T	0.26538	-1.0100	10	0.46703	T	0.11	.	1.5785	0.02629	0.2272:0.2006:0.369:0.2032	.	7374;7374;7303;7303	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9	SYNE1_HUMAN;.;.;.	M	7374;20;7303;7374;7303;6986;1898;296	ENSP00000356224:I7374M;ENSP00000356226:I20M;ENSP00000396024:I7303M;ENSP00000265368:I7374M;ENSP00000390975:I7303M;ENSP00000341887:I6986M;ENSP00000349276:I1898M;ENSP00000356220:I296M	ENSP00000265368:I7374M	I	-	3	3	SYNE1	152581154	0.000000	0.05858	0.000000	0.03702	0.251000	0.25915	-1.289000	0.02780	-2.729000	0.00385	-0.321000	0.08615	ATA		0.433	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		204	1177	0	0	0	1	0	204	1177				
HNRNPCL1	343069	broad.mit.edu	37	1	12907458	12907458	+	Missense_Mutation	SNP	T	T	C	rs200282759	byFrequency	TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr1:12907458T>C	ENST00000317869.6	-	2	910	c.685A>G	c.(685-687)Atg>Gtg	p.M229V		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1	O60812	HNRC1_HUMAN	heterogeneous nuclear ribonucleoprotein C-like 1	229						nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						TCTTTCTTCATGGAGCTACTG	0.458																																						ENST00000317869.6																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						c.(685-687)Atg>Gtg		heterogeneous nuclear ribonucleoprotein C-like 1							110.0	112.0	112.0					1																	12907458		2203	4297	6500	SO:0001583	missense	343069							g.chr1:12907458T>C	BC002696	CCDS30591.1	1p36.21	2013-02-12		2008-04-18	ENSG00000179172	ENSG00000179172		"""RNA binding motif (RRM) containing"""	29295	protein-coding gene	gene with protein product				HNRPCL1			Standard	NM_001013631		Approved			O60812	OTTHUMG00000001931	ENST00000317869.6:c.685A>G	1.37:g.12907458T>C	ENSP00000365370:p.Met229Val						p.M229V	NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1					2	910	-								B2RP44	Missense_Mutation	SNP	ENST00000317869.6	37	c.685A>G	CCDS30591.1	.	.	.	.	.	.	.	.	.	.	.	0.001	-3.367597	0.00015	.	.	ENSG00000179172	ENST00000317869	T	0.08807	3.05	1.09	-1.67	0.08238	.	33.202900	0.00166	N	0.000000	T	0.02727	0.0082	N	0.00926	-1.1	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.34750	-0.9816	10	0.24483	T	0.36	.	3.6976	0.08371	0.0:0.2307:0.2991:0.4701	.	229	O60812	HNRCL_HUMAN	V	229	ENSP00000365370:M229V	ENSP00000365370:M229V	M	-	1	0	HNRNPCL1	12830045	0.986000	0.35501	0.919000	0.36401	0.078000	0.17371	0.226000	0.17776	-0.440000	0.07211	-2.072000	0.00384	ATG		0.458	HNRNPCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005462.1	NM_001013631		6	230	0	0	0	1	0	6	230				
PHC1	1911	broad.mit.edu	37	12	9085340	9085340	+	Silent	SNP	G	G	A			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr12:9085340G>A	ENST00000543824.1	+	9	1619	c.1287G>A	c.(1285-1287)caG>caA	p.Q429Q	PHC1_ENST00000536844.1_Silent_p.Q208Q|PHC1_ENST00000544916.1_Silent_p.Q429Q|PHC1_ENST00000433083.2_Silent_p.Q384Q|PHC1_ENST00000433847.2_3'UTR			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)	429	Poly-Gln.				cellular response to retinoic acid (GO:0071300)|histone ubiquitination (GO:0016574)|multicellular organismal development (GO:0007275)	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)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						agcagcagcagcaacaacagc	0.622																																						ENST00000433083.2																			0				breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						c.(1150-1152)caG>caA		polyhomeotic homolog 1 (Drosophila)							35.0	42.0	40.0					12																	9085340		2139	4130	6269	SO:0001819	synonymous_variant	1911				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding	g.chr12:9085340G>A	U89277	CCDS8597.1	12p13	2013-01-10	2006-09-12	2002-11-15	ENSG00000111752	ENSG00000111752		"""Sterile alpha motif (SAM) domain containing"""	3182	protein-coding gene	gene with protein product		602978	"""early development regulator 1 (homolog of polyhomeotic 1)"", ""polyhomeotic-like 1 (Drosophila)"""	EDR1		9121482	Standard	XM_005253334		Approved	HPH1, RAE28	uc001qvd.3	P78364	OTTHUMG00000168275	ENST00000543824.1:c.1287G>A	12.37:g.9085340G>A						PHC1_ENST00000433847.2_3'UTR|PHC1_ENST00000544916.1_Silent_p.Q429Q|PHC1_ENST00000536844.1_Silent_p.Q208Q|PHC1_ENST00000543824.1_Silent_p.Q429Q	p.Q384Q			P78364	PHC1_HUMAN			7	1297	+			429					D3DUV4|Q8WVM3|Q9BU63	Silent	SNP	ENST00000543824.1	37	c.1152G>A	CCDS8597.1	.	.	.	.	.	.	.	.	.	.	G	0.379	-0.929682	0.02359	.	.	ENSG00000111752	ENST00000537610	.	.	.	4.25	0.343	0.16001	.	.	.	.	.	T	0.45478	0.1344	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.23904	-1.0175	4	.	.	.	-5.0313	4.2042	0.10481	0.3896:0.1678:0.4427:0.0	.	.	.	.	N	65	.	.	S	+	2	0	PHC1	8976607	0.991000	0.36638	0.997000	0.53966	0.355000	0.29361	0.004000	0.13106	-0.022000	0.13986	0.491000	0.48974	AGC		0.622	PHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399115.1	NM_004426		5	111	0	0	0	1	0	5	111				
ADAMTS15	170689	broad.mit.edu	37	11	130343247	130343247	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr11:130343247G>A	ENST00000299164.2	+	8	2384	c.2384G>A	c.(2383-2385)cGc>cAc	p.R795H		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	795	Spacer.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		CCCCGGGTCCGCTACTCCTTC	0.657																																						ENST00000299164.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36						c.(2383-2385)cGc>cAc		ADAM metallopeptidase with thrombospondin type 1 motif, 15							86.0	98.0	94.0					11																	130343247		2201	4297	6498	SO:0001583	missense	170689				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:130343247G>A	AJ315733	CCDS8488.1	11q25	2008-02-01	2005-08-19		ENSG00000166106	ENSG00000166106		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	16305	protein-coding gene	gene with protein product		607509	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 15"""			11867212	Standard	NM_139055		Approved		uc010scd.2	Q8TE58	OTTHUMG00000165657	ENST00000299164.2:c.2384G>A	11.37:g.130343247G>A	ENSP00000299164:p.Arg795His						p.R795H	NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)	8	2384	+	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	795			Spacer.		Q32MI6	Missense_Mutation	SNP	ENST00000299164.2	37	c.2384G>A	CCDS8488.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.964311	0.92791	.	.	ENSG00000166106	ENST00000299164	T	0.52526	0.66	5.91	4.99	0.66335	ADAM-TS Spacer 1 (1);	.	.	.	.	T	0.58177	0.2104	L	0.38692	1.165	0.80722	D	1	D	0.89917	1.0	D	0.70016	0.967	T	0.55366	-0.8152	9	0.30854	T	0.27	.	16.5512	0.84473	0.0:0.0:0.8684:0.1316	.	795	Q8TE58	ATS15_HUMAN	H	795	ENSP00000299164:R795H	ENSP00000299164:R795H	R	+	2	0	ADAMTS15	129848457	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	6.428000	0.73383	1.498000	0.48600	0.655000	0.94253	CGC		0.657	ADAMTS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385638.1	NM_139055		215	681	0	0	0	1	0	215	681				
DNAH11	8701	broad.mit.edu	37	7	21727066	21727066	+	Silent	SNP	C	C	A	rs372143147		TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr7:21727066C>A	ENST00000409508.3	+	34	5876	c.5845C>A	c.(5845-5847)Cga>Aga	p.R1949R	DNAH11_ENST00000328843.6_Silent_p.R1956R	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1956	AAA 1. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TGAGTTCAACCGAATCTCTGT	0.443									Kartagener syndrome																													ENST00000328843.6																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(5866-5868)Cga>Aga		dynein, axonemal, heavy chain 11							78.0	82.0	81.0					7																	21727066		2197	4299	6496	SO:0001819	synonymous_variant	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21727066C>A	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.5845C>A	7.37:g.21727066C>A						DNAH11_ENST00000409508.3_Silent_p.R1949R	p.R1956R			Q96DT5	DYH11_HUMAN			35	5897	+			1956			AAA 1 (By similarity).		Q9UJ82	Silent	SNP	ENST00000409508.3	37	c.5866C>A																																																																																					0.443	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		21	113	1	0	2.98393e-07	1	3.09782e-07	21	113				
ZFHX3	463	broad.mit.edu	37	16	72821615	72821615	+	Silent	SNP	G	G	A			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr16:72821615G>A	ENST00000268489.5	-	10	11232	c.10560C>T	c.(10558-10560)ggC>ggT	p.G3520G	AC004943.1_ENST00000584072.1_RNA|RP5-991G20.1_ENST00000563328.2_RNA|RP5-991G20.4_ENST00000569195.1_RNA|ZFHX3_ENST00000397992.5_Silent_p.G2606G	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3520	Poly-Gly.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				cgccgccgccgccaccgccgc	0.706																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(10558-10560)ggC>ggT		zinc finger homeobox 3							10.0	14.0	12.0					16																	72821615		1455	3158	4613	SO:0001819	synonymous_variant	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72821615G>A	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.10560C>T	16.37:g.72821615G>A						AC004943.1_ENST00000584072.1_RNA|ZFHX3_ENST00000397992.5_Silent_p.G2606G	p.G3520G	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			10	11232	-		Ovarian(137;0.13)	3520			Poly-Gly.		D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	c.10560C>T	CCDS10908.1																																																																																				0.706	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		5	105	0	0	0	1	0	5	105				
MAML3	55534	broad.mit.edu	37	4	140811108	140811108	+	Silent	SNP	C	C	T			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr4:140811108C>T	ENST00000509479.2	-	2	2338	c.1482G>A	c.(1480-1482)caG>caA	p.Q494Q	MAML3_ENST00000398940.1_Silent_p.Q33Q|MAML3_ENST00000327122.5_Silent_p.Q338Q	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.537																																						ENST00000509479.2																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.(1480-1482)caG>caA		mastermind-like 3 (Drosophila)							14.0	19.0	17.0					4																	140811108		2165	4272	6437	SO:0001819	synonymous_variant	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140811108C>T	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1482G>A	4.37:g.140811108C>T						MAML3_ENST00000327122.5_Silent_p.Q338Q|MAML3_ENST00000398940.1_Silent_p.Q33Q	p.Q494Q	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN			2	2338	-	all_hematologic(180;0.162)		494			Gln-rich.			Silent	SNP	ENST00000509479.2	37	c.1482G>A	CCDS54805.1																																																																																				0.537	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			6	105	0	0	0	1	0	6	105				
CXCL12	6387	broad.mit.edu	37	10	44876321	44876321	+	Silent	SNP	G	G	A			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr10:44876321G>A	ENST00000374429.2	-	2	155	c.69C>T	c.(67-69)ccC>ccT	p.P23P	CXCL12_ENST00000343575.6_Silent_p.P23P|CXCL12_ENST00000395795.4_Silent_p.P23P|CXCL12_ENST00000395794.2_Silent_p.P23P|CXCL12_ENST00000496375.1_5'UTR|CXCL12_ENST00000374426.2_Silent_p.P23P|CXCL12_ENST00000395793.3_Silent_p.P23P|AL137026.1_ENST00000593376.1_Intron	NM_000609.5|NM_001277990.1	NP_000600.1|NP_001264919.1	P48061	SDF1_HUMAN	chemokine (C-X-C motif) ligand 12	23					adult locomotory behavior (GO:0008344)|ameboidal cell migration (GO:0001667)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cellular calcium ion homeostasis (GO:0006874)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|germ cell development (GO:0007281)|germ cell migration (GO:0008354)|immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|motor neuron axon guidance (GO:0008045)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative regulation of leukocyte tethering or rolling (GO:1903237)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|patterning of blood vessels (GO:0001569)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell adhesion (GO:0045785)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of T cell migration (GO:2000406)|regulation of actin polymerization or depolymerization (GO:0008064)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to peptide hormone (GO:0043434)|response to radiation (GO:0009314)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation (GO:0042098)|telencephalon cell migration (GO:0022029)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	chemokine activity (GO:0008009)|chemokine receptor binding (GO:0042379)|CXCR chemokine receptor binding (GO:0045236)|receptor binding (GO:0005102)	p.P23P(3)		endometrium(1)|large_intestine(1)|lung(3)|skin(1)	6					Tinzaparin(DB06822)	TCAGGCTGACGGGCTTCCCTA	0.507																																						ENST00000374429.2																			3	Substitution - coding silent(3)	p.P23P(3)	lung(3)	endometrium(1)|large_intestine(1)|lung(3)|skin(1)	6						c.(67-69)ccC>ccT		chemokine (C-X-C motif) ligand 12	Dexamethasone(DB01234)						197.0	185.0	189.0					10																	44876321		2203	4300	6503	SO:0001819	synonymous_variant	6387				blood circulation|cell adhesion|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|negative regulation of leukocyte apoptosis|positive regulation of monocyte chemotaxis|regulation of actin polymerization or depolymerization|response to virus	extracellular space	chemokine activity|growth factor activity|signal transducer activity	g.chr10:44876321G>A	L36033	CCDS7207.1, CCDS31186.1, CCDS44373.1, CCDS53527.1, CCDS60518.1	10q11.1	2013-02-28	2010-05-11	2002-08-23	ENSG00000107562	ENSG00000107562		"""Endogenous ligands"""	10672	protein-coding gene	gene with protein product		600835	"""stromal cell-derived factor 1"""	SDF1A, SDF1B, SDF1		7490086	Standard	NM_001033886		Approved	SCYB12, SDF-1a, SDF-1b, PBSF, TLSF-a, TLSF-b, TPAR1	uc021ppm.1	P48061	OTTHUMG00000018054	ENST00000374429.2:c.69C>T	10.37:g.44876321G>A						CXCL12_ENST00000374426.2_Silent_p.P23P|CXCL12_ENST00000395794.2_Silent_p.P23P|CXCL12_ENST00000496375.1_5'UTR|CXCL12_ENST00000395795.4_Silent_p.P23P|AL137026.1_ENST00000593376.1_Intron|CXCL12_ENST00000395793.3_Silent_p.P23P|CXCL12_ENST00000343575.6_Silent_p.P23P	p.P23P	NM_000609.5|NM_001277990.1	NP_000600.1|NP_001264919.1	P48061	SDF1_HUMAN			2	155	-			23					B2R4G0|E7EVL0|H7BYN8|Q2L985|Q2L986|Q2L988|Q5IT36|Q6ICW0|Q9H554	Silent	SNP	ENST00000374429.2	37	c.69C>T	CCDS44373.1																																																																																				0.507	CXCL12-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047738.2	NM_000609		92	564	0	0	0	1	0	92	564				
RP11-156P1.3	0	broad.mit.edu	37	17	45128792	45128792	+	RNA	SNP	G	G	T			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr17:45128792G>T	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							AATTCAGGTTGTCAGAATGCA	0.373																																						ENST00000575173.1																			0																																																			0							g.chr17:45128792G>T																													17.37:g.45128792G>T														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.373	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			6	180	1	0	8.12818e-05	1	8.2495e-05	6	180				
ABCC12	94160	broad.mit.edu	37	16	48145558	48145558	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr16:48145558A>G	ENST00000311303.3	-	15	2485	c.2140T>C	c.(2140-2142)Tac>Cac	p.Y714H	ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000448542.1_Missense_Mutation_p.Y714H	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	714						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				GCTGCATTGTAAAGGTGTTCA	0.488																																						ENST00000311303.3																			0				NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90						c.(2140-2142)Tac>Cac		ATP-binding cassette, sub-family C (CFTR/MRP), member 12							221.0	231.0	227.0					16																	48145558		2201	4300	6501	SO:0001583	missense	94160					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48145558A>G	AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.2140T>C	16.37:g.48145558A>G	ENSP00000311030:p.Tyr714His					ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000448542.1_Missense_Mutation_p.Y714H	p.Y714H	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN			15	2485	-		all_cancers(37;0.0474)|all_lung(18;0.047)	714					Q49AL2|Q8TAF0|Q8TEY2	Missense_Mutation	SNP	ENST00000311303.3	37	c.2140T>C	CCDS10730.1	.	.	.	.	.	.	.	.	.	.	A	4.790	0.146953	0.09134	.	.	ENSG00000140798	ENST00000311303;ENST00000448542;ENST00000449939	D;D	0.91894	-2.77;-2.93	5.19	2.96	0.34315	.	0.997368	0.08124	N	0.994277	D	0.82990	0.5157	N	0.12182	0.205	0.58432	D	0.999991	B	0.06786	0.001	B	0.04013	0.001	T	0.72308	-0.4332	10	0.32370	T	0.25	.	6.2311	0.20736	0.8025:0.0:0.1975:0.0	.	714	Q96J65	MRP9_HUMAN	H	714;714;656	ENSP00000311030:Y714H;ENSP00000401855:Y714H	ENSP00000311030:Y714H	Y	-	1	0	ABCC12	46703059	0.808000	0.29022	0.799000	0.32177	0.029000	0.11900	1.678000	0.37586	0.808000	0.34231	-0.411000	0.06167	TAC		0.488	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226		7	1010	0	0	0	1	0	7	1010				
DOCK8	81704	broad.mit.edu	37	9	372257	372257	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr9:372257C>T	ENST00000453981.1	+	18	2192	c.2080C>T	c.(2080-2082)Cca>Tca	p.P694S	DOCK8_ENST00000432829.2_Missense_Mutation_p.P626S|DOCK8_ENST00000382329.1_Missense_Mutation_p.P161S|DOCK8_ENST00000382331.1_5'UTR|DOCK8_ENST00000469391.1_Missense_Mutation_p.P626S			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	694	DHR-1.				blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		GGAAAAATTGCCACCCAACTA	0.448																																						ENST00000432829.2																			0				breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65						c.(1876-1878)Cca>Tca		dedicator of cytokinesis 8							123.0	111.0	115.0					9																	372257		2203	4300	6503	SO:0001583	missense	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:372257C>T	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.2080C>T	9.37:g.372257C>T	ENSP00000408464:p.Pro694Ser					DOCK8_ENST00000382329.1_Missense_Mutation_p.P161S|DOCK8_ENST00000453981.1_Missense_Mutation_p.P694S|DOCK8_ENST00000469391.1_Missense_Mutation_p.P626S|DOCK8_ENST00000382331.1_5'UTR	p.P626S	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	18	2192	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	694					A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	ENST00000453981.1	37	c.1876C>T	CCDS6440.2	.	.	.	.	.	.	.	.	.	.	C	28.8	4.948470	0.92593	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391;ENST00000382329	T;T;T;T	0.14766	2.48;2.48;2.48;2.48	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.42653	0.1212	M	0.78223	2.4	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	1.0;0.996;1.0	T	0.24261	-1.0165	10	0.72032	D	0.01	.	20.0442	0.97604	0.0:1.0:0.0:0.0	.	626;161;694	E9PH09;A2A369;Q8NF50	.;.;DOCK8_HUMAN	S	694;694;626;626;161	ENSP00000408464:P694S;ENSP00000394888:P626S;ENSP00000419438:P626S;ENSP00000371766:P161S	ENSP00000287364:P694S	P	+	1	0	DOCK8	362257	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.329000	0.79170	2.814000	0.96858	0.655000	0.94253	CCA		0.448	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307		5	429	0	0	0	1	0	5	429				
ZNF91	7644	broad.mit.edu	37	19	23544867	23544867	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr19:23544867T>C	ENST00000300619.7	-	4	1119	c.914A>G	c.(913-915)cAt>cGt	p.H305R	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.H273R	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	305					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)						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				GGTTGAAGAATGGCTAAAAGC	0.413																																						ENST00000300619.7																			0											c.(913-915)cAt>cGt		zinc finger protein 91							78.0	82.0	81.0					19																	23544867		2175	4288	6463	SO:0001583	missense	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23544867T>C	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.914A>G	19.37:g.23544867T>C	ENSP00000300619:p.His305Arg					ZNF91_ENST00000397082.2_Missense_Mutation_p.H273R|ZNF91_ENST00000599743.1_Intron	p.H305R	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN			4	1119	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	305					A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	c.914A>G	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	T	0.014	-1.588219	0.00872	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.17691	2.26;2.26	2.03	0.954	0.19595	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05640	0.0148	N	0.04043	-0.29	0.09310	N	1	B;B	0.26081	0.116;0.141	B;B	0.15484	0.007;0.013	T	0.41251	-0.9519	9	0.07030	T	0.85	.	6.7777	0.23628	0.0:0.1365:0.0:0.8635	.	273;305	Q05481-2;Q05481	.;ZNF91_HUMAN	R	305;273	ENSP00000300619:H305R;ENSP00000380272:H273R	ENSP00000300619:H305R	H	-	2	0	ZNF91	23336707	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.802000	0.00184	-0.005000	0.14395	-1.601000	0.00813	CAT		0.413	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		7	530	0	0	0	1	0	7	530				
LILRP2	79166	broad.mit.edu	37	19	55221570	55221570	+	RNA	SNP	A	A	C	rs554223424	byFrequency	TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr19:55221570A>C	ENST00000413439.1	+	0	1350									leukocyte immunoglobulin-like receptor pseudogene 2																		TACAGATGCTACGGTGCACAC	0.677													.|||	5	0.000998403	0.0	0.0014	5008	,	,		16629	0.003		0.001	False		,,,				2504	0.0				Ovarian(107;788 1543 20399 31552 46707)	ENST00000413439.1																			0																																																			0							g.chr19:55221570A>C	AF072100		19q13.4	2010-02-17			ENSG00000240258	ENSG00000170858		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"""	15497	pseudogene	pseudogene						10941842	Standard	NR_003061		Approved	ILT10, CD85m	uc002qgs.1		OTTHUMG00000065886		19.37:g.55221570A>C														0	1350	+									RNA	SNP	ENST00000413439.1	37																																																																																						0.677	LILRP2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000141240.2	NM_024317		4	213	0	0	0	1	0	4	213				
TSSC2	650368	broad.mit.edu	37	11	3427759	3427759	+	RNA	SNP	C	C	T			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr11:3427759C>T	ENST00000529482.1	+	0	876									tumor suppressing subtransferable candidate 2 pseudogene																		TGTCTGCACACGTCCTGCAGT	0.612																																						ENST00000529482.1																			0																																																			0							g.chr11:3427759C>T			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427759C>T														0	876	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.612	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			5	160	0	0	0	1	0	5	160				
TUBB8P7	197331	broad.mit.edu	37	16	90162620	90162620	+	RNA	SNP	T	T	G	rs567602838	byFrequency	TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr16:90162620T>G	ENST00000564451.1	+	0	1973				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7																		CTAGGTAAAGTGGGGAAGCAG	0.483													.|||	3	0.000599042	0.0015	0.0	5008	,	,		21669	0.0		0.0	False		,,,				2504	0.001					ENST00000564451.1																			0																																																			0							g.chr16:90162620T>G			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162620T>G														0	1973	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.483	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		6	535	0	0	0	1	0	6	535				
ZAN	7455	broad.mit.edu	37	7	100350487	100350487	+	RNA	SNP	C	C	T			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr7:100350487C>T	ENST00000348028.3	+	0	2924				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACGGAAAAACCCACCATCCCC	0.502																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							341.0	393.0	377.0					7																	100350487		1864	4100	5964			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100350487C>T	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100350487C>T						ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	2907	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.	.	.	.	.	.	.	.	.	.	C	13.49	2.252616	0.39797	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.63096	-0.02;-0.02;-0.02	3.25	1.22	0.21188	.	.	.	.	.	T	0.55353	0.1915	L	0.36672	1.1	0.22240	N	0.999267	B;P	0.37612	0.42;0.602	B;B	0.44108	0.312;0.441	T	0.50250	-0.8850	9	0.87932	D	0	.	7.3702	0.26798	0.1906:0.6243:0.1851:0.0	.	920;920	F5H0T8;Q9Y493	.;ZAN_HUMAN	L	920	ENSP00000445943:P920L;ENSP00000445091:P920L;ENSP00000444427:P920L	ENSP00000423579:P920L	P	+	2	0	ZAN	100188423	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	0.137000	0.15995	0.129000	0.18514	0.655000	0.94253	CCC		0.502	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		7	659	0	0	0	1	0	7	659				
ZNF878	729747	broad.mit.edu	37	19	12155673	12155673	+	Missense_Mutation	SNP	A	A	C			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr19:12155673A>C	ENST00000547628.1	-	4	680	c.543T>G	c.(541-543)agT>agG	p.S181R	CTD-2006C1.2_ENST00000591898.1_RNA|ZNF878_ENST00000602107.1_Missense_Mutation_p.S228R|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591838.1_RNA	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878	181					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						AACTGGGAAAACTGAATGCTT	0.403																																						ENST00000602107.1																			0				cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						c.(682-684)agT>agG		zinc finger protein 878							189.0	199.0	196.0					19																	12155673		2112	4260	6372	SO:0001583	missense	729747				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:12155673A>C		CCDS45984.1, CCDS45984.2	19p13.2	2013-01-08				ENSG00000257446		"""Zinc fingers, C2H2-type"", ""-"""	37246	protein-coding gene	gene with protein product							Standard	NM_001080404		Approved		uc021upl.1	C9JN71		ENST00000547628.1:c.543T>G	19.37:g.12155673A>C	ENSP00000447931:p.Ser181Arg					CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591898.1_RNA|ZNF878_ENST00000547628.1_Missense_Mutation_p.S181R	p.S228R			C9JN71	ZN878_HUMAN			5	683	-			181						Missense_Mutation	SNP	ENST00000547628.1	37	c.684T>G	CCDS45984.2	.	.	.	.	.	.	.	.	.	.	a	0	-2.730166	0.00089	.	.	ENSG00000257446;ENSG00000232371	ENST00000547628;ENST00000440730	T	0.07216	3.21	1.24	-2.47	0.06442	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03871	0.0109	N	0.12831	0.26	0.09310	N	1	B	0.11235	0.004	B	0.15484	0.013	T	0.39231	-0.9624	9	0.21540	T	0.41	.	5.2308	0.15420	0.5561:0.2971:0.0:0.1468	.	181	C9JN71	ZN878_HUMAN	R	181;228	ENSP00000447931:S181R	ENSP00000447931:S181R	S	-	3	2	AC022415.4;ZNF878	12016673	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.404000	0.07205	-2.785000	0.00359	-2.885000	0.00097	AGT		0.403	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403723.1	NM_001080404		7	1034	0	0	0	1	0	7	1034				
RLN2	6019	broad.mit.edu	37	9	5304440	5304440	+	Silent	SNP	G	G	A	rs544671340		TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr9:5304440G>A	ENST00000381627.3	-	1	529	c.141C>T	c.(139-141)tgC>tgT	p.C47C	RLN2_ENST00000308420.3_Silent_p.C47C	NM_134441.2	NP_604390.1	P04090	REL2_HUMAN	relaxin 2	47					female pregnancy (GO:0007565)	extracellular region (GO:0005576)				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	11	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987)		TGCTCATGCCGCAAATGGCAA	0.552													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18840	0.0		0.0	False		,,,				2504	0.0					ENST00000381627.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	11						c.(139-141)tgC>tgT		relaxin 2							41.0	42.0	42.0					9																	5304440		2203	4297	6500	SO:0001819	synonymous_variant	6019				female pregnancy	extracellular region	hormone activity	g.chr9:5304440G>A		CCDS6460.1	9p24.1	2013-02-26	2004-11-15		ENSG00000107014	ENSG00000107014		"""Endogenous ligands"""	10027	protein-coding gene	gene with protein product	"""relaxin H2"", ""prorelaxin H2"", ""relaxin, ovarian, of pregnancy"""	179740	"""relaxin 2 (H2)"""			6548703, 6548702	Standard	NM_134441		Approved	H2, RLXH2, bA12D24.1.1, bA12D24.1.2	uc003zja.2	P04090	OTTHUMG00000019496	ENST00000381627.3:c.141C>T	9.37:g.5304440G>A						RLN2_ENST00000308420.3_Silent_p.C47C	p.C47C	NM_134441.2	NP_604390.1	P04090	REL2_HUMAN		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987)	1	529	-	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)	47					A0AVM0|Q99936|Q9UCX3|Q9UQJ2	Silent	SNP	ENST00000381627.3	37	c.141C>T	CCDS6460.1																																																																																				0.552	RLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051619.1	NM_134441		6	220	0	0	0	1	0	6	220				
MEFV	4210	broad.mit.edu	37	16	3293521	3293521	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr16:3293521C>T	ENST00000219596.1	-	10	2005	c.1966G>A	c.(1966-1968)Gag>Aag	p.E656K	MEFV_ENST00000536379.1_Missense_Mutation_p.E445K|MEFV_ENST00000339854.4_Missense_Mutation_p.E476K|MEFV_ENST00000541159.1_3'UTR	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	656	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.		E -> A (in arFMF). {ECO:0000269|PubMed:16730661}.		inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						ACCTCCACCTCCCAGTAACGG	0.542																																						ENST00000219596.1																			0				NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						c.(1966-1968)Gag>Aag		Mediterranean fever	Colchicine(DB01394)						105.0	106.0	105.0					16																	3293521		2197	4300	6497	SO:0001583	missense	4210				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	g.chr16:3293521C>T	AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"""Tripartite motif containing / Tripartite motif containing"""	6998	protein-coding gene	gene with protein product	"""pyrin"""	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.1966G>A	16.37:g.3293521C>T	ENSP00000219596:p.Glu656Lys					MEFV_ENST00000541159.1_3'UTR|MEFV_ENST00000339854.4_Missense_Mutation_p.E476K|MEFV_ENST00000536379.1_Missense_Mutation_p.E445K	p.E656K	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN			10	2005	-			656		E -> A (in arFMF).	B30.2/SPRY.		D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Missense_Mutation	SNP	ENST00000219596.1	37	c.1966G>A	CCDS10498.1	.	.	.	.	.	.	.	.	.	.	C	19.25	3.791684	0.70452	.	.	ENSG00000103313	ENST00000545159;ENST00000219596;ENST00000339854;ENST00000536379	T;T;T	0.77620	-1.11;-1.11;-1.11	5.03	4.02	0.46733	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.139173	0.33110	N	0.005270	D	0.92750	0.7695	H	0.99312	4.51	0.37407	D	0.913101	D	0.89917	1.0	D	0.85130	0.997	D	0.96110	0.9076	10	0.87932	D	0	.	13.8796	0.63674	0.0:0.846:0.154:0.0	.	656	O15553	MEFV_HUMAN	K	656;656;476;445	ENSP00000219596:E656K;ENSP00000339639:E476K;ENSP00000445079:E445K	ENSP00000219596:E656K	E	-	1	0	MEFV	3233522	1.000000	0.71417	1.000000	0.80357	0.788000	0.44548	3.985000	0.56930	2.496000	0.84212	0.650000	0.86243	GAG		0.542	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243		94	456	0	0	0	1	0	94	456				
FBXO34	55030	broad.mit.edu	37	14	55818287	55818287	+	Silent	SNP	G	G	A	rs553317019		TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr14:55818287G>A	ENST00000313833.4	+	2	1424	c.1179G>A	c.(1177-1179)tcG>tcA	p.S393S	FBXO34_ENST00000440021.1_Silent_p.S393S	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	393										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						AGCCGGGTTCGCAAACTGCCG	0.507													G|||	1	0.000199681	0.0	0.0	5008	,	,		19849	0.0		0.0	False		,,,				2504	0.001					ENST00000313833.4																			0				breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						c.(1177-1179)tcG>tcA		F-box protein 34							121.0	105.0	110.0					14																	55818287		2203	4300	6503	SO:0001819	synonymous_variant	55030							g.chr14:55818287G>A	AK000732	CCDS32086.1	14q22.1	2004-08-24	2004-06-15			ENSG00000178974		"""F-boxes /  ""other"""""	20201	protein-coding gene	gene with protein product		609104	"""F-box only protein 34"""				Standard	NM_017943		Approved	FLJ20725, Fbx34	uc010aoo.3	Q9NWN3		ENST00000313833.4:c.1179G>A	14.37:g.55818287G>A						FBXO34_ENST00000440021.1_Silent_p.S393S	p.S393S	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN			2	1424	+			393					Q2VPB5|Q4VBP5|Q86TY4	Silent	SNP	ENST00000313833.4	37	c.1179G>A	CCDS32086.1																																																																																				0.507	FBXO34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411322.1			7	509	0	0	0	1	0	7	509				
OR1M1	125963	broad.mit.edu	37	19	9204125	9204125	+	Missense_Mutation	SNP	G	G	A	rs202009987		TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr19:9204125G>A	ENST00000429566.3	+	1	271	c.205G>A	c.(205-207)Gtt>Att	p.V69I		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	69						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V69I(2)		breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CCTGTCCCTGGTTGATTTCTG	0.557																																						ENST00000429566.3																			2	Substitution - Missense(2)	p.V69I(2)	prostate(1)|lung(1)	breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						c.(205-207)Gtt>Att		olfactory receptor, family 1, subfamily M, member 1							108.0	82.0	91.0					19																	9204125		2203	4300	6503	SO:0001583	missense	125963				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9204125G>A		CCDS32896.1	19p13.2	2013-09-20			ENSG00000170929	ENSG00000170929		"""GPCR / Class A : Olfactory receptors"""	8220	protein-coding gene	gene with protein product							Standard	NM_001004456		Approved	OR19-6	uc010xkj.2	Q8NGA1	OTTHUMG00000179930	ENST00000429566.3:c.205G>A	19.37:g.9204125G>A	ENSP00000401966:p.Val69Ile						p.V69I	NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN			1	271	+			69					B9EHA6|Q6IFJ3|Q96R91	Missense_Mutation	SNP	ENST00000429566.3	37	c.205G>A	CCDS32896.1	.	.	.	.	.	.	.	.	.	.	g	11.00	1.509904	0.27036	.	.	ENSG00000170929	ENST00000305465;ENST00000429566	T	0.02916	4.11	3.49	-0.909	0.10514	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000102	T	0.05960	0.0155	L	0.39397	1.21	0.09310	N	1	D	0.64830	0.994	D	0.70716	0.97	T	0.23154	-1.0196	10	0.54805	T	0.06	.	4.7447	0.13031	0.4655:0.159:0.3755:0.0	.	69	Q8NGA1	OR1M1_HUMAN	I	72;69	ENSP00000401966:V69I	ENSP00000303195:V72I	V	+	1	0	OR1M1	9065125	0.000000	0.05858	0.004000	0.12327	0.429000	0.31625	-5.071000	0.00154	-0.175000	0.10725	-0.508000	0.04489	GTT		0.557	OR1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448993.1			6	307	0	0	0	1	0	6	307				
CRYGD	1421	broad.mit.edu	37	2	208988981	208988981	+	Missense_Mutation	SNP	G	G	A	rs200234608		TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr2:208988981G>A	ENST00000264376.4	-	2	134	c.107C>T	c.(106-108)gCg>gTg	p.A36V		NM_006891.3	NP_008822.2	P07320	CRGD_HUMAN	crystallin, gamma D	36	Beta/gamma crystallin 'Greek key' 1. {ECO:0000255|PROSITE-ProRule:PRU00028}.				cellular response to reactive oxygen species (GO:0034614)|lens development in camera-type eye (GO:0002088)|lens fiber cell differentiation (GO:0070306)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	structural constituent of eye lens (GO:0005212)			breast(1)|endometrium(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		GTCCACGCGCGCCGAGTTGCA	0.652																																						ENST00000264376.4																			0				breast(1)|endometrium(1)|lung(3)	5						c.(106-108)gCg>gTg		crystallin, gamma D							11.0	13.0	12.0					2																	208988981		2179	4274	6453	SO:0001583	missense	1421				cellular response to reactive oxygen species|visual perception	soluble fraction	protein binding|structural constituent of eye lens	g.chr2:208988981G>A		CCDS2378.1	2q33.3	2013-02-14			ENSG00000118231	ENSG00000118231			2411	protein-coding gene	gene with protein product		123690		CRYG4			Standard	NM_006891		Approved		uc002vcn.4	P07320	OTTHUMG00000132944	ENST00000264376.4:c.107C>T	2.37:g.208988981G>A	ENSP00000264376:p.Ala36Val						p.A36V	NM_006891.3	NP_008822.2	P07320	CRGD_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)	2	134	-			36			Beta/gamma crystallin 'Greek key' 1.		Q17RF7|Q53R51|Q99681	Missense_Mutation	SNP	ENST00000264376.4	37	c.107C>T	CCDS2378.1	.	.	.	.	.	.	.	.	.	.	G	11.40	1.627591	0.28978	.	.	ENSG00000118231	ENST00000264376	T	0.72051	-0.62	4.35	3.19	0.36642	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.184420	0.36703	N	0.002444	T	0.29389	0.0732	N	0.00166	-1.94	0.09310	N	0.999995	B	0.02656	0.0	B	0.01281	0.0	T	0.34875	-0.9811	10	0.32370	T	0.25	.	8.1681	0.31239	0.9021:0.0:0.0979:0.0	.	36	P07320	CRGD_HUMAN	V	36	ENSP00000264376:A36V	ENSP00000264376:A36V	A	-	2	0	CRYGD	208697226	0.280000	0.24249	0.067000	0.19924	0.966000	0.64601	2.073000	0.41519	0.695000	0.31675	-0.573000	0.04149	GCG		0.652	CRYGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256476.2	NM_006891		4	75	0	0	0	1	0	4	75				
SUMF2	25870	broad.mit.edu	37	7	56142409	56142409	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr7:56142409C>T	ENST00000413756.1	+	5	538	c.515C>T	c.(514-516)gCc>gTc	p.A172V	SUMF2_ENST00000275607.9_Missense_Mutation_p.A84V|SUMF2_ENST00000395435.2_Intron|SUMF2_ENST00000437307.2_Intron|SUMF2_ENST00000395436.2_Missense_Mutation_p.A176V|SUMF2_ENST00000434526.2_Missense_Mutation_p.A191V|SUMF2_ENST00000342190.6_Missense_Mutation_p.A191V			Q8NBJ7	SUMF2_HUMAN	sulfatase modifying factor 2	172					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)	endoplasmic reticulum lumen (GO:0005788)	metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TGGGAGTTTGCCGCCCGAGGG	0.567											OREG0018081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000434526.2																			0				breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14						c.(571-573)gCc>gTc		sulfatase modifying factor 2							80.0	82.0	81.0					7																	56142409		2203	4300	6503	SO:0001583	missense	25870					endoplasmic reticulum lumen	metal ion binding	g.chr7:56142409C>T	AK075477	CCDS5524.2, CCDS43588.2, CCDS43589.2, CCDS47589.1, CCDS55111.1	7q11.1	2004-04-30			ENSG00000129103	ENSG00000129103			20415	protein-coding gene	gene with protein product		607940				12757706	Standard	NM_015411		Approved	DKFZp566I1024	uc003trv.3	Q8NBJ7	OTTHUMG00000129373	ENST00000413756.1:c.515C>T	7.37:g.56142409C>T	ENSP00000406445:p.Ala172Val		OREG0018081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1013	SUMF2_ENST00000437307.2_Intron|SUMF2_ENST00000413756.1_Missense_Mutation_p.A172V|SUMF2_ENST00000395435.2_Intron|SUMF2_ENST00000395436.2_Missense_Mutation_p.A176V|SUMF2_ENST00000342190.6_Missense_Mutation_p.A191V|SUMF2_ENST00000275607.9_Missense_Mutation_p.A84V	p.A191V	NM_001042469.1|NM_015411.2	NP_001035934.2|NP_056226.2	Q8NBJ7	SUMF2_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		5	603	+	Breast(14;0.214)		172					B4DU41|B4DWQ0|Q14DW5|Q53ZE3|Q96BH2|Q9BRN3|Q9BWI1|Q9Y405	Missense_Mutation	SNP	ENST00000413756.1	37	c.572C>T		.	.	.	.	.	.	.	.	.	.	C	36	5.686691	0.96784	.	.	ENSG00000129103	ENST00000395436;ENST00000434526;ENST00000275607;ENST00000413952;ENST00000342190;ENST00000413756;ENST00000451338	D;D;D;D;D;D;D	0.98968	-5.28;-5.28;-5.28;-5.28;-5.28;-5.28;-5.28	5.53	5.53	0.82687	C-type lectin fold (1);Formylglycine-generating sulphatase enzyme domain (2);	0.000000	0.85682	D	0.000000	D	0.99309	0.9758	M	0.90198	3.095	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.951	D	0.99226	1.0880	10	0.87932	D	0	-11.665	18.8414	0.92186	0.0:1.0:0.0:0.0	.	176;172;191	A8MXB9;Q8NBJ7;F8WA42	.;SUMF2_HUMAN;.	V	176;191;84;194;191;172;189	ENSP00000378824:A176V;ENSP00000400922:A191V;ENSP00000275607:A84V;ENSP00000414434:A194V;ENSP00000341938:A191V;ENSP00000406445:A172V;ENSP00000410796:A189V	ENSP00000275607:A84V	A	+	2	0	SUMF2	56109903	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.607000	0.82883	2.777000	0.95525	0.591000	0.81541	GCC		0.567	SUMF2-013	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000341457.2	NM_015411		6	430	0	0	0	1	0	6	430				
USP34	9736	broad.mit.edu	37	2	61448662	61448662	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr2:61448662G>A	ENST00000398571.2	-	66	7950	c.7874C>T	c.(7873-7875)tCt>tTt	p.S2625F	USP34_ENST00000472689.1_5'UTR	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2625					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			CAGAATATAAGATGCAAAGGG	0.383																																						ENST00000398571.2																			0				autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138						c.(7873-7875)tCt>tTt		ubiquitin specific peptidase 34							81.0	77.0	78.0					2																	61448662		1869	4105	5974	SO:0001583	missense	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61448662G>A	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.7874C>T	2.37:g.61448662G>A	ENSP00000381577:p.Ser2625Phe					USP34_ENST00000472689.1_5'UTR	p.S2625F	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		66	7950	-			2625					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	c.7874C>T	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.619780	0.87460	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571	T	0.36699	1.24	6.07	6.07	0.98685	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.43366	0.1244	L	0.36672	1.1	0.80722	D	1	D	0.56968	0.978	P	0.54664	0.758	T	0.04811	-1.0925	10	0.09590	T	0.72	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	2625	Q70CQ2	UBP34_HUMAN	F	2473;2473;2625	ENSP00000381577:S2625F	ENSP00000263989:S2473F	S	-	2	0	USP34	61302166	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.701000	0.98710	2.885000	0.99019	0.655000	0.94253	TCT		0.383	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			25	149	0	0	0	1	0	25	149				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522772	95522772	+	RNA	SNP	T	T	C	rs368571207		TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr2:95522772T>C	ENST00000432432.2	-	0	255					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene									p.E49G(1)									GCGCTCCACCTCCGCGGCGTC	0.682																																						ENST00000432432.2																			1	Substitution - Missense(1)	p.E49G(1)	kidney(1)																																																0							g.chr2:95522772T>C			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95522772T>C								NR_040113.1						0	255	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.682	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			5	192	0	0	0	1	0	5	192				
PRG4	10216	broad.mit.edu	37	1	186275982	186275982	+	Silent	SNP	C	C	T			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr1:186275982C>T	ENST00000445192.2	+	7	1176	c.1131C>T	c.(1129-1131)acC>acT	p.T377T	PRG4_ENST00000367483.4_Silent_p.T336T|PRG4_ENST00000367485.4_Silent_p.T284T|PRG4_ENST00000367484.3_Silent_p.T336T|PRG4_ENST00000367486.3_Silent_p.T334T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	377	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CACCCACCACCCCCAAGGAGC	0.637																																						ENST00000445192.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(1129-1131)acC>acT		proteoglycan 4							171.0	164.0	166.0					1																	186275982		2203	4300	6503	SO:0001819	synonymous_variant	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186275982C>T	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1131C>T	1.37:g.186275982C>T						PRG4_ENST00000367483.4_Silent_p.T336T|PRG4_ENST00000367486.3_Silent_p.T334T|PRG4_ENST00000367485.4_Silent_p.T284T|PRG4_ENST00000367484.3_Silent_p.T336T	p.T377T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1176	+			377			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	ENST00000445192.2	37	c.1131C>T	CCDS1369.1																																																																																				0.637	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		6	505	0	0	0	1	0	6	505				
RPRD1B	58490	broad.mit.edu	37	20	36687836	36687836	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr20:36687836C>T	ENST00000373433.4	+	5	971	c.569C>T	c.(568-570)gCc>gTc	p.A190V		NM_021215.3	NP_067038.1	Q9NQG5	RPR1B_HUMAN	regulation of nuclear pre-mRNA domain containing 1B	190					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle process (GO:0010564)|transcription, DNA-templated (GO:0006351)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						CTGGAAAATGCCGCATCAGGG	0.413																																						ENST00000373433.4																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						c.(568-570)gCc>gTc		regulation of nuclear pre-mRNA domain containing 1B							108.0	101.0	103.0					20																	36687836		2203	4300	6503	SO:0001583	missense	58490							g.chr20:36687836C>T	AL109823	CCDS13301.1	20q11.21-q12	2012-02-09	2008-08-15	2008-07-28	ENSG00000101413	ENSG00000101413			16209	protein-coding gene	gene with protein product		614694	"""chromosome 20 open reading frame 77"""	C20orf77		22231121	Standard	NM_021215		Approved	dJ1057B20.2, DKFZp434P0735, CREPT, FLJ44520, NET60	uc002xho.4	Q9NQG5	OTTHUMG00000032434	ENST00000373433.4:c.569C>T	20.37:g.36687836C>T	ENSP00000362532:p.Ala190Val						p.A190V	NM_021215.3	NP_067038.1	Q9NQG5	RPR1B_HUMAN			5	971	+			190					Q1WDE7|Q6PKF4	Missense_Mutation	SNP	ENST00000373433.4	37	c.569C>T	CCDS13301.1	.	.	.	.	.	.	.	.	.	.	C	36	5.667224	0.96745	.	.	ENSG00000101413	ENST00000373433;ENST00000449186	.	.	.	5.4	5.4	0.78164	.	0.046127	0.85682	D	0.000000	T	0.71005	0.3289	M	0.68593	2.085	0.80722	D	1	P	0.51653	0.947	P	0.50537	0.643	T	0.74438	-0.3665	9	0.72032	D	0.01	-10.9352	18.3479	0.90328	0.0:1.0:0.0:0.0	.	190	Q9NQG5	RPR1B_HUMAN	V	190;72	.	ENSP00000362532:A190V	A	+	2	0	RPRD1B	36121250	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	7.651000	0.83577	2.814000	0.96858	0.563000	0.77884	GCC		0.413	RPRD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079142.2	NM_021215		5	334	0	0	0	1	0	5	334				
NPIPB5	100132247	broad.mit.edu	37	16	22545865	22545865	+	Missense_Mutation	SNP	G	G	C	rs202011711	byFrequency	TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr16:22545865G>C	ENST00000517539.1	+	8	1636	c.1561G>C	c.(1561-1563)Gcc>Ccc	p.A521P	NPIPB5_ENST00000424340.1_Missense_Mutation_p.A521P|NPIPB5_ENST00000415654.1_3'UTR			A8MRT5	NPIB5_HUMAN	nuclear pore complex interacting protein family, member B5	521	Pro-rich.					integral component of membrane (GO:0016021)											TCAGCTCACTGCCCTTCCACC	0.567																																						ENST00000424340.1																			0											c.(1561-1563)Gcc>Ccc		nuclear pore complex interacting protein family, member B5							15.0	10.0	11.0					16																	22545865		690	1587	2277	SO:0001583	missense	100132247							g.chr16:22545865G>C		CCDS45443.1	16p12.2	2013-06-11			ENSG00000243716	ENSG00000243716			37233	protein-coding gene	gene with protein product							Standard	NM_001135865		Approved			A8MRT5	OTTHUMG00000163573	ENST00000517539.1:c.1561G>C	16.37:g.22545865G>C	ENSP00000430633:p.Ala521Pro					NPIPB5_ENST00000517539.1_Missense_Mutation_p.A521P|NPIPB5_ENST00000415654.1_3'UTR	p.A521P	NM_001135865.1	NP_001129337.1					7	1840	+								B4DK13	Missense_Mutation	SNP	ENST00000517539.1	37	c.1561G>C	CCDS45443.1	.	.	.	.	.	.	.	.	.	.	.	0.575	-0.839534	0.02692	.	.	ENSG00000243716	ENST00000415833;ENST00000424340;ENST00000342168;ENST00000503072;ENST00000517539;ENST00000528249;ENST00000344223	T;T;T;T	0.18338	2.32;2.22;2.22;2.32	.	.	.	.	.	.	.	.	T	0.03136	0.0092	N	0.01352	-0.895	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.001;0.003	T	0.28618	-1.0038	7	0.08381	T	0.77	.	.	.	.	.	521;521	F5GWX0;A8MRT5	.;K220L_HUMAN	P	521;521;521;399;521;521;502	ENSP00000445388:A521P;ENSP00000440703:A521P;ENSP00000430633:A521P;ENSP00000431553:A521P	ENSP00000441680:A521P	A	+	1	0	RP11-368J21.2	22453366	.	.	0.003000	0.11579	0.003000	0.03518	.	.	-2.321000	0.00641	-2.362000	0.00238	GCC		0.567	NPIPB5-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374343.2	NM_001135865		9	1281	0	0	0	1	0	9	1281				
DNAJC6	9829	broad.mit.edu	37	1	65845149	65845149	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr1:65845149G>A	ENST00000395325.3	+	5	594	c.437G>A	c.(436-438)cGg>cAg	p.R146Q	DNAJC6_ENST00000263441.7_Missense_Mutation_p.R133Q|DNAJC6_ENST00000371069.4_Missense_Mutation_p.R203Q	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	146	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				cell death (GO:0008219)|clathrin coat disassembly (GO:0072318)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytosol (GO:0005829)|synapse (GO:0045202)	protein tyrosine phosphatase activity (GO:0004725)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						GCTGTGTGTCGGAATATGTAT	0.458																																						ENST00000395325.3																			0				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						c.(436-438)cGg>cAg		DnaJ (Hsp40) homolog, subfamily C, member 6							217.0	200.0	206.0					1																	65845149		2203	4300	6503	SO:0001583	missense	9829				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding	g.chr1:65845149G>A	AB007942	CCDS30739.1, CCDS58004.1, CCDS58005.1	1p31.3	2011-09-02			ENSG00000116675	ENSG00000116675		"""Heat shock proteins / DNAJ (HSP40)"""	15469	protein-coding gene	gene with protein product	"""auxilin"""	608375				9455484, 11147971	Standard	NM_001256864		Approved	KIAA0473	uc001dce.2	O75061	OTTHUMG00000009066	ENST00000395325.3:c.437G>A	1.37:g.65845149G>A	ENSP00000378735:p.Arg146Gln					DNAJC6_ENST00000263441.7_Missense_Mutation_p.R133Q|DNAJC6_ENST00000371069.4_Missense_Mutation_p.R203Q	p.R146Q	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN			5	594	+			146			Phosphatase tensin-type.		B7Z3V8|D3DQ65|D3DQ66|Q32M66|Q4G0K1|Q5T614|Q5T615	Missense_Mutation	SNP	ENST00000395325.3	37	c.437G>A	CCDS30739.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.005156	0.74932	.	.	ENSG00000116675	ENST00000263441;ENST00000395325;ENST00000371069	D;D;D	0.98649	-5.05;-5.05;-5.05	5.41	3.42	0.39159	Phosphatase tensin type (1);	0.055637	0.64402	D	0.000001	D	0.90937	0.7151	N	0.17474	0.49	0.31432	N	0.672981	P;P;D	0.54397	0.932;0.811;0.966	B;B;B	0.40444	0.124;0.058;0.329	D	0.89605	0.3837	10	0.44086	T	0.13	.	4.517	0.11939	0.3974:0.0:0.6026:0.0	.	203;146;133	O75061-2;O75061;D3DQ66	.;AUXI_HUMAN;.	Q	133;146;203	ENSP00000263441:R133Q;ENSP00000378735:R146Q;ENSP00000360108:R203Q	ENSP00000263441:R133Q	R	+	2	0	DNAJC6	65617737	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.122000	0.77169	1.520000	0.48965	0.561000	0.74099	CGG		0.458	DNAJC6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025134.1			87	486	0	0	0	1	0	87	486				
ADAMTS2	9509	broad.mit.edu	37	5	178552090	178552090	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr5:178552090C>T	ENST00000251582.7	-	19	2943	c.2842G>A	c.(2842-2844)Gac>Aac	p.D948N		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	948	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GTGGTGTTGTCGTGTAGCGGC	0.692																																						ENST00000251582.7																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72						c.(2842-2844)Gac>Aac		ADAM metallopeptidase with thrombospondin type 1 motif, 2							112.0	113.0	113.0					5																	178552090		2203	4300	6503	SO:0001583	missense	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178552090C>T	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.2842G>A	5.37:g.178552090C>T	ENSP00000251582:p.Asp948Asn						p.D948N	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	19	2943	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	948			TSP type-1 3.			Missense_Mutation	SNP	ENST00000251582.7	37	c.2842G>A	CCDS4444.1	.	.	.	.	.	.	.	.	.	.	C	0.743	-0.775731	0.02951	.	.	ENSG00000087116	ENST00000251582	T	0.53857	0.6	5.31	2.0	0.26442	.	0.301971	0.27792	N	0.017833	T	0.26774	0.0655	N	0.12422	0.21	0.80722	D	1	B	0.24317	0.101	B	0.22601	0.04	T	0.10730	-1.0617	10	0.06757	T	0.87	.	8.4694	0.32975	0.0:0.7177:0.0:0.2823	.	948	O95450	ATS2_HUMAN	N	948	ENSP00000251582:D948N	ENSP00000251582:D948N	D	-	1	0	ADAMTS2	178484696	0.966000	0.33281	0.957000	0.39632	0.030000	0.12068	1.550000	0.36223	0.026000	0.15269	-1.140000	0.01884	GAC		0.692	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		6	895	0	0	0	1	0	6	895				
DNER	92737	broad.mit.edu	37	2	230312173	230312173	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr2:230312173C>T	ENST00000341772.4	-	8	1479	c.1345G>A	c.(1345-1347)Ggg>Agg	p.G449R		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	449	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|glial cell differentiation (GO:0010001)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|skeletal muscle fiber development (GO:0048741)|synapse assembly (GO:0007416)	dendrite (GO:0030425)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		AAGTGTACCCCGTCCACATAG	0.572																																						ENST00000341772.4																			0				NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63						c.(1345-1347)Ggg>Agg		delta/notch-like EGF repeat containing							55.0	52.0	53.0					2																	230312173		2203	4300	6503	SO:0001583	missense	92737				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity	g.chr2:230312173C>T	AY358891	CCDS33390.1	2q36.3	2006-10-26			ENSG00000187957	ENSG00000187957			24456	protein-coding gene	gene with protein product		607299				11950833, 11997712	Standard	NM_139072		Approved	UNQ26, bet	uc002vpv.3	Q8NFT8	OTTHUMG00000153637	ENST00000341772.4:c.1345G>A	2.37:g.230312173C>T	ENSP00000345229:p.Gly449Arg						p.G449R	NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)	8	1479	-		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)	449			EGF-like 6.		A6NP39|Q53R88|Q53TP7|Q53TQ5|Q8IYT0|Q8TB42|Q9NTF1|Q9UDM2	Missense_Mutation	SNP	ENST00000341772.4	37	c.1345G>A	CCDS33390.1	.	.	.	.	.	.	.	.	.	.	C	5.804	0.332713	0.11013	.	.	ENSG00000187957	ENST00000341772	D	0.87412	-2.25	4.94	4.01	0.46588	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.209202	0.49916	D	0.000132	T	0.78660	0.4318	L	0.42529	1.33	0.46499	D	0.999072	B	0.25719	0.132	B	0.18871	0.023	T	0.70952	-0.4732	10	0.15066	T	0.55	.	9.0768	0.36527	0.0:0.6526:0.2599:0.0876	.	449	Q8NFT8	DNER_HUMAN	R	449	ENSP00000345229:G449R	ENSP00000345229:G449R	G	-	1	0	DNER	230020417	0.942000	0.31987	0.080000	0.20451	0.198000	0.23893	2.742000	0.47434	2.442000	0.82660	0.655000	0.94253	GGG		0.572	DNER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331902.1	NM_139072		19	127	0	0	0	1	0	19	127				
KIAA1407	57577	broad.mit.edu	37	3	113737607	113737607	+	Missense_Mutation	SNP	G	G	A	rs563222564		TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr3:113737607G>A	ENST00000295878.3	-	8	1227	c.1081C>T	c.(1081-1083)Cgg>Tgg	p.R361W	KIAA1407_ENST00000545063.1_Missense_Mutation_p.R192W	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	361										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						CTCCAGGCCCGCAGGACCTTC	0.478													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16824	0.0		0.0	False		,,,				2504	0.0					ENST00000295878.3																			0				endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						c.(1081-1083)Cgg>Tgg		KIAA1407							199.0	210.0	206.0					3																	113737607		2203	4300	6503	SO:0001583	missense	57577							g.chr3:113737607G>A	AF509494	CCDS2977.1	3q13.31	2005-01-10			ENSG00000163617	ENSG00000163617			29272	protein-coding gene	gene with protein product						10718198	Standard	NM_020817		Approved		uc003eax.3	Q8NCU4	OTTHUMG00000159337	ENST00000295878.3:c.1081C>T	3.37:g.113737607G>A	ENSP00000295878:p.Arg361Trp					KIAA1407_ENST00000545063.1_Missense_Mutation_p.R192W	p.R361W	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN			8	1227	-			361					B4DYL1|Q9P2E0	Missense_Mutation	SNP	ENST00000295878.3	37	c.1081C>T	CCDS2977.1	.	.	.	.	.	.	.	.	.	.	G	19.18	3.778047	0.70107	.	.	ENSG00000163617	ENST00000295878;ENST00000545063;ENST00000491000	T;T;T	0.56275	1.09;0.47;0.54	5.76	1.75	0.24633	.	0.134260	0.47455	D	0.000230	T	0.69015	0.3064	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77004	0.989;0.989;0.989	T	0.71490	-0.4577	10	0.87932	D	0	.	15.3441	0.74320	0.0:0.0:0.5062:0.4938	.	348;237;361	C9JA89;B4DIZ9;Q8NCU4	.;.;K1407_HUMAN	W	361;192;348	ENSP00000295878:R361W;ENSP00000446381:R192W;ENSP00000418099:R348W	ENSP00000295878:R361W	R	-	1	2	KIAA1407	115220297	0.966000	0.33281	0.978000	0.43139	0.988000	0.76386	1.269000	0.33074	0.031000	0.15407	-0.181000	0.13052	CGG		0.478	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354724.2	NM_020817		9	1331	0	0	0	1	0	9	1331				
HECW1	23072	broad.mit.edu	37	7	43580819	43580819	+	Silent	SNP	C	C	T			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr7:43580819C>T	ENST00000395891.2	+	25	4682	c.4077C>T	c.(4075-4077)gaC>gaT	p.D1359D	HECW1_ENST00000453890.1_Silent_p.D1325D	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1359	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						ACCTTCTTGACGCTTTCTTCA	0.522																																						ENST00000395891.1																			0				NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						c.(4075-4077)gaC>gaT		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1							168.0	162.0	164.0					7																	43580819		2005	4171	6176	SO:0001819	synonymous_variant	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43580819C>T	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.4077C>T	7.37:g.43580819C>T						HECW1_ENST00000453890.1_Silent_p.D1325D	p.D1359D	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN			25	4682	+			1359			HECT.		A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Silent	SNP	ENST00000395891.2	37	c.4077C>T	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	C	7.599	0.672376	0.14776	.	.	ENSG00000002746	ENST00000429529	.	.	.	5.83	-11.7	0.00046	.	.	.	.	.	T	0.64260	0.2582	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.77778	-0.2460	4	.	.	.	.	19.7666	0.96346	0.0:0.5708:0.0:0.4292	.	.	.	.	M	83	.	.	T	+	2	0	HECW1	43547344	0.161000	0.22892	0.071000	0.20095	0.828000	0.46876	-0.564000	0.05936	-2.493000	0.00515	-0.965000	0.02619	ACG		0.522	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		48	424	0	0	0	1	0	48	424				
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000311936.3_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gTt		Kirsten rat sarcoma viral oncogene homolog							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>A	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>T	12.37:g.25398284C>A	ENSP00000256078:p.Gly12Val	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V	p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>T	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		18	165	1	0	9.95505e-16	1	1.05772e-15	18	165				
PRSS3P2	154754	broad.mit.edu	37	7	142481888	142481888	+	RNA	SNP	T	T	C	rs375829895		TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr7:142481888T>C	ENST00000603901.1	+	0	567					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										TGGGCTTCCTTGAGGGAGGCA	0.522																																						ENST00000603901.1																			0																																																			0							g.chr7:142481888T>C			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142481888T>C								NR_001296.3						0	567	+									RNA	SNP	ENST00000603901.1	37																																																																																						0.522	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		6	173	0	0	0	1	0	6	173				
TUBB8P7	197331	broad.mit.edu	37	16	90161926	90161926	+	RNA	SNP	T	T	C	rs8061283	byFrequency	TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr16:90161926T>C	ENST00000564451.1	+	0	1279				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.I221T(3)									CCCACACCCATCTATGGTGAC	0.527													.|||	3140	0.626997	0.9395	0.5	5008	,	,		11330	0.7847		0.4702	False		,,,				2504	0.2935					ENST00000567960.1																			3	Substitution - Missense(3)	p.I221T(3)	kidney(2)|prostate(1)																																																0							g.chr16:90161926T>C			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161926T>C						TUBB8P7_ENST00000564451.1_RNA								0	662	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.527	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		7	125	0	0	0	1	0	7	125				
NAB2	4665	broad.mit.edu	37	12	57485457	57485457	+	Silent	SNP	T	T	C			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr12:57485457T>C	ENST00000300131.3	+	2	1011	c.633T>C	c.(631-633)ccT>ccC	p.P211P	NAB2_ENST00000342556.6_Silent_p.P211P|NAB2_ENST00000554718.1_3'UTR|NAB2_ENST00000357680.4_Silent_p.P211P	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	211					cell proliferation (GO:0008283)|endochondral ossification (GO:0001958)|myelination (GO:0042552)|negative regulation of transcription from RNA polymerase III promoter (GO:0016480)|nervous system development (GO:0007399)|regulation of epidermis development (GO:0045682)|Schwann cell differentiation (GO:0014037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)	p.P211P(3)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						TCTCCCCCCCTGCAGGGGGAG	0.711																																						ENST00000300131.3																			3	Substitution - coding silent(3)	p.P211P(3)	prostate(1)|lung(1)|kidney(1)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(631-633)ccT>ccC		NGFI-A binding protein 2 (EGR1 binding protein 2)																																				SO:0001819	synonymous_variant	4665				cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity	g.chr12:57485457T>C	BC065931	CCDS8930.1	12q13.3	2008-05-14				ENSG00000166886			7627	protein-coding gene	gene with protein product		602381				8668170, 8649813	Standard	XM_005268894		Approved	MADER	uc001smz.3	Q15742		ENST00000300131.3:c.633T>C	12.37:g.57485457T>C						NAB2_ENST00000554718.1_3'UTR|NAB2_ENST00000342556.6_Silent_p.P211P|NAB2_ENST00000357680.4_Silent_p.P211P	p.P211P	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN			2	1011	+			211					B2RAK3|O76006|Q14797	Silent	SNP	ENST00000300131.3	37	c.633T>C	CCDS8930.1																																																																																				0.711	NAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412222.1	NM_005967		8	77	0	0	0	1	0	8	77				
BMS1P20	96610	broad.mit.edu	37	22	22664186	22664186	+	RNA	SNP	A	A	G	rs369741558		TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr22:22664186A>G	ENST00000426066.1	+	0	709					NR_027293.1				BMS1 pseudogene 20																		CAGATCAAGAAAGCACTCTGA	0.498																																						ENST00000426066.1																			0																																																			0							g.chr22:22664186A>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664186A>G								NR_027293.1						0	709	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.498	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			4	241	0	0	0	1	0	4	241				
EEF1B2	1933	broad.mit.edu	37	2	207025358	207025358	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr2:207025358A>G	ENST00000392222.2	+	2	502	c.127A>G	c.(127-129)Agc>Ggc	p.S43G	NDUFS1_ENST00000440274.1_5'Flank|NDUFS1_ENST00000423725.1_5'Flank|NDUFS1_ENST00000432169.1_5'Flank|EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G|SNORA41_ENST00000384675.1_RNA|NDUFS1_ENST00000455934.2_5'Flank|NDUFS1_ENST00000457011.1_5'Flank|NDUFS1_ENST00000233190.6_5'Flank|SNORD51_ENST00000384320.2_RNA|NDUFS1_ENST00000449699.1_5'Flank|EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	43	GST C-terminal.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)	translation elongation factor activity (GO:0003746)	p.S43G(4)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						AGCCGTGTCCAGCCCACCGCC	0.468																																						ENST00000392222.2																			4	Substitution - Missense(4)	p.S43G(4)	endometrium(2)|lung(1)|kidney(1)	breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						c.(127-129)Agc>Ggc		eukaryotic translation elongation factor 1 beta 2							109.0	99.0	102.0					2																	207025358		2203	4300	6503	SO:0001583	missense	1933					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	g.chr2:207025358A>G	X60489	CCDS2367.1	2q33.3	2011-04-28			ENSG00000114942	ENSG00000114942			3208	protein-coding gene	gene with protein product		600655				8250921	Standard	NM_001959		Approved		uc002vbf.1	P24534	OTTHUMG00000132891	ENST00000392222.2:c.127A>G	2.37:g.207025358A>G	ENSP00000376056:p.Ser43Gly					EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G|EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G	p.S43G	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN			2	502	+			43			GST C-terminal.		A8K795|Q6IBH9	Missense_Mutation	SNP	ENST00000392222.2	37	c.127A>G	CCDS2367.1	.	.	.	.	.	.	.	.	.	.	A	0.014	-1.585588	0.00872	.	.	ENSG00000114942	ENST00000236957;ENST00000392221;ENST00000392222;ENST00000445505	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.47	0.911	0.19343	Glutathione S-transferase, C-terminal-like (2);	0.442134	0.26800	N	0.022437	T	0.19846	0.0477	N	0.16098	0.37	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18745	-1.0327	10	0.17832	T	0.49	-2.1703	6.3337	0.21285	0.2348:0.0:0.6384:0.1268	.	43	P24534	EF1B_HUMAN	G	43	ENSP00000236957:S43G;ENSP00000376055:S43G;ENSP00000376056:S43G;ENSP00000407730:S43G	ENSP00000236957:S43G	S	+	1	0	EEF1B2	206733603	0.049000	0.20398	0.145000	0.22337	0.051000	0.14879	0.879000	0.28146	-0.027000	0.13873	-0.252000	0.11476	AGC		0.468	EEF1B2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336436.1	NM_001037663		7	371	0	0	0	1	0	7	371				
TGM3	7053	broad.mit.edu	37	20	2290352	2290352	+	Silent	SNP	G	G	T			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr20:2290352G>T	ENST00000381458.5	+	2	120	c.57G>T	c.(55-57)gcG>gcT	p.A19A		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	19					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|hair follicle morphogenesis (GO:0031069)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein tetramerization (GO:0051262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	calcium ion binding (GO:0005509)|catalytic activity (GO:0003824)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|transferase activity, transferring acyl groups (GO:0016746)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	ACCGACAAGCGCATCACACAG	0.517																																						ENST00000381458.5																			0				breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39						c.(55-57)gcG>gcT		transglutaminase 3	L-Glutamine(DB00130)						133.0	118.0	123.0					20																	2290352		2203	4300	6503	SO:0001819	synonymous_variant	7053				cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2290352G>T	L10386	CCDS33435.1	20q11.2	2013-05-02	2013-05-02		ENSG00000125780	ENSG00000125780	2.3.2.13	"""Transglutaminases"""	11779	protein-coding gene	gene with protein product	"""E polypeptide, protein-glutamine-gamma-glutamyltransferase"""	600238	"""transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase)"""			7851911, 9452468	Standard	NM_003245		Approved	TGE	uc002wfx.4	Q08188	OTTHUMG00000031690	ENST00000381458.5:c.57G>T	20.37:g.2290352G>T							p.A19A	NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN			2	120	+			19					A8K5N6|B2RCR6|D3DVX1|O95933|Q32ML9|Q32MM0	Silent	SNP	ENST00000381458.5	37	c.57G>T	CCDS33435.1																																																																																				0.517	TGM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077579.2	NM_003245		72	475	1	0	1.1397e-45	1	1.22047e-45	72	475				
SIGLEC11	114132	broad.mit.edu	37	19	50462047	50462047	+	Missense_Mutation	SNP	A	A	C	rs201935510	byFrequency	TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr19:50462047A>C	ENST00000447370.2	-	7	1306	c.1216T>G	c.(1216-1218)Tgg>Ggg	p.W406G	SIGLEC11_ENST00000426971.2_Missense_Mutation_p.W406G|CTC-326K19.6_ENST00000451973.1_5'Flank	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	406	Ig-like C2-type 3.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		GTCTGTCCCCACCGGGTCCAG	0.682																																						ENST00000447370.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32						c.(1216-1218)Tgg>Ggg		sialic acid binding Ig-like lectin 11							31.0	37.0	35.0					19																	50462047		2203	4299	6502	SO:0001583	missense	114132				cell adhesion	integral to membrane	sugar binding	g.chr19:50462047A>C	AF337818	CCDS12790.2, CCDS46150.1	19q13.3	2013-01-29			ENSG00000161640	ENSG00000161640		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15622	protein-coding gene	gene with protein product		607157				11986327	Standard	NM_052884		Approved		uc010ybi.2	Q96RL6	OTTHUMG00000157077	ENST00000447370.2:c.1216T>G	19.37:g.50462047A>C	ENSP00000412361:p.Trp406Gly					SIGLEC11_ENST00000426971.2_Missense_Mutation_p.W406G	p.W406G	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)	7	1306	-		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)	406			Ig-like C2-type 3.			Missense_Mutation	SNP	ENST00000447370.2	37	c.1216T>G	CCDS12790.2	.	.	.	.	.	.	.	.	.	.	A	0.410	-0.913951	0.02415	.	.	ENSG00000161640	ENST00000447370;ENST00000458019	T	0.06608	3.28	2.6	0.235	0.15431	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	1.580110	0.03342	N	0.194914	T	0.00754	0.0025	N	0.00002	-3.61	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.50750	-0.8791	9	.	.	.	.	3.7679	0.08630	0.2384:0.6144:0.0:0.1472	.	406;406	Q96RL6-2;Q96RL6	.;SIG11_HUMAN	G	406	ENSP00000412361:W406G	.	W	-	1	0	SIGLEC11	55153859	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.318000	0.08050	0.003000	0.14656	-1.045000	0.02358	TGG		0.682	SIGLEC11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347382.1	NM_052884		6	204	0	0	0	1	0	6	204				
RGPD3	653489	broad.mit.edu	37	2	107049681	107049681	+	Missense_Mutation	SNP	T	T	C	rs369310197		TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr2:107049681T>C	ENST00000409886.3	-	16	2353	c.2266A>G	c.(2266-2268)Aac>Gac	p.N756D	RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	756					protein targeting to Golgi (GO:0000042)			p.N756D(6)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCACTATAGTTTTCGAGTTCC	0.373																																						ENST00000409886.3																			6	Substitution - Missense(6)	p.N756D(6)	endometrium(6)	breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						c.(2266-2268)Aac>Gac		RANBP2-like and GRIP domain containing 3							164.0	133.0	142.0					2																	107049681		692	1590	2282	SO:0001583	missense	653489				intracellular transport		binding	g.chr2:107049681T>C		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.2266A>G	2.37:g.107049681T>C	ENSP00000386588:p.Asn756Asp					RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN			16	2353	-			756					B8ZZM4	Missense_Mutation	SNP	ENST00000409886.3	37	c.2266A>G	CCDS46379.1	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.481585	0.00163	.	.	ENSG00000153165	ENST00000409886;ENST00000452099;ENST00000304514	T;T	0.23754	1.89;1.89	2.34	2.34	0.29019	.	.	.	.	.	T	0.07638	0.0192	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37979	-0.9682	9	0.02654	T	1	-2.2547	7.1228	0.25454	0.0:0.8499:0.0:0.1501	.	756	A6NKT7	RGPD3_HUMAN	D	756;514;756	ENSP00000386588:N756D;ENSP00000303659:N756D	ENSP00000303659:N756D	N	-	1	0	RGPD3	106416113	0.974000	0.33945	0.242000	0.24170	0.003000	0.03518	4.107000	0.57811	0.325000	0.23359	-1.206000	0.01644	AAC		0.373	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		10	1855	0	0	0	1	0	10	1855				
NTNG1	22854	broad.mit.edu	37	1	107867468	107867468	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr1:107867468G>A	ENST00000370068.1	+	3	1657	c.811G>A	c.(811-813)Gtt>Att	p.V271I	NTNG1_ENST00000370074.4_Missense_Mutation_p.V271I|NTNG1_ENST00000370065.1_Missense_Mutation_p.V271I|NTNG1_ENST00000370070.2_Missense_Mutation_p.V271I|NTNG1_ENST00000477948.1_3'UTR|NTNG1_ENST00000542803.1_Missense_Mutation_p.V271I|NTNG1_ENST00000370072.3_Missense_Mutation_p.V271I|NTNG1_ENST00000370061.3_Missense_Mutation_p.V271I|NTNG1_ENST00000370067.1_Missense_Mutation_p.V271I|NTNG1_ENST00000370073.2_Missense_Mutation_p.V271I|NTNG1_ENST00000370071.2_Missense_Mutation_p.V271I|NTNG1_ENST00000370066.1_Missense_Mutation_p.V271I			Q9Y2I2	NTNG1_HUMAN	netrin G1	271	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)		p.V271I(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		AAGACCAGCCGTTGGGGAAAT	0.458																																						ENST00000370067.1																			2	Substitution - Missense(2)	p.V271I(2)	large_intestine(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37						c.(811-813)Gtt>Att		netrin G1							54.0	56.0	56.0					1																	107867468		2203	4299	6502	SO:0001583	missense	22854				axonogenesis	anchored to plasma membrane	protein binding	g.chr1:107867468G>A	AB023193	CCDS30785.1, CCDS44179.1, CCDS44180.1	1p13.2-p13.1	2013-03-01			ENSG00000162631	ENSG00000162631		"""Netrins"""	23319	protein-coding gene	gene with protein product	"""netrin G1f"", ""Netrin-G1"""	608818				10964959	Standard	NM_001113226		Approved	KIAA0976, Lmnt1	uc001dvh.4	Q9Y2I2	OTTHUMG00000010965	ENST00000370068.1:c.811G>A	1.37:g.107867468G>A	ENSP00000359085:p.Val271Ile					NTNG1_ENST00000477948.1_3'UTR|NTNG1_ENST00000542803.1_Missense_Mutation_p.V271I|NTNG1_ENST00000370061.3_Missense_Mutation_p.V271I|NTNG1_ENST00000370065.1_Missense_Mutation_p.V271I|NTNG1_ENST00000370066.1_Missense_Mutation_p.V271I|NTNG1_ENST00000370074.4_Missense_Mutation_p.V271I|NTNG1_ENST00000370068.1_Missense_Mutation_p.V271I|NTNG1_ENST00000370070.2_Missense_Mutation_p.V271I|NTNG1_ENST00000370072.3_Missense_Mutation_p.V271I|NTNG1_ENST00000370071.2_Missense_Mutation_p.V271I|NTNG1_ENST00000370073.2_Missense_Mutation_p.V271I	p.V271I			Q9Y2I2	NTNG1_HUMAN		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)	3	1438	+		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)	271			Laminin N-terminal.		Q5VU86|Q5VU87|Q5VU89|Q5VU90|Q5VU91|Q7Z2Y3|Q8N633	Missense_Mutation	SNP	ENST00000370068.1	37	c.811G>A	CCDS44180.1	.	.	.	.	.	.	.	.	.	.	G	11.41	1.630818	0.28978	.	.	ENSG00000162631	ENST00000370076;ENST00000370073;ENST00000370071;ENST00000542803;ENST00000370061;ENST00000370072;ENST00000370070;ENST00000535584;ENST00000370064;ENST00000370062;ENST00000370074;ENST00000370068;ENST00000294649;ENST00000370067;ENST00000370066;ENST00000370065	T;T;T;T;T;T;T;T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91;-0.91;-0.91;-0.91;-0.91;-0.91;-0.91;-0.91	5.94	3.92	0.45320	Laminin, N-terminal (3);	0.336633	0.24492	N	0.038046	T	0.29850	0.0746	N	0.04508	-0.205	0.33178	D	0.549223	B;B;B;B;B	0.25772	0.001;0.134;0.007;0.021;0.076	B;B;B;B;B	0.28709	0.007;0.093;0.019;0.024;0.046	T	0.05435	-1.0885	10	0.40728	T	0.16	.	4.7071	0.12855	0.6449:0.0:0.3551:0.0	.	271;271;271;271;271	B4DKF0;Q9Y2I2;Q9Y2I2-4;Q9Y2I2-2;Q9Y2I2-1	.;NTNG1_HUMAN;.;.;.	I	271;271;271;271;271;271;271;271;32;32;271;271;271;271;271;271	ENSP00000359090:V271I;ENSP00000359088:V271I;ENSP00000440561:V271I;ENSP00000359078:V271I;ENSP00000359089:V271I;ENSP00000359087:V271I;ENSP00000359091:V271I;ENSP00000359085:V271I;ENSP00000359084:V271I;ENSP00000359083:V271I;ENSP00000359082:V271I	ENSP00000294649:V271I	V	+	1	0	NTNG1	107668991	1.000000	0.71417	0.787000	0.31911	0.994000	0.84299	7.637000	0.83313	0.752000	0.32923	0.655000	0.94253	GTT		0.458	NTNG1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000030340.1	NM_014917		42	339	0	0	0	1	0	42	339				
ITLN1	55600	broad.mit.edu	37	1	160850421	160850421	+	Silent	SNP	G	G	A	rs201111955		TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr1:160850421G>A	ENST00000326245.3	-	6	757	c.642C>T	c.(640-642)ggC>ggT	p.G214G	ITLN1_ENST00000487531.1_5'UTR	NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)	214	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				positive regulation of glucose import (GO:0046326)|positive regulation of protein phosphorylation (GO:0001934)|response to nematode (GO:0009624)	anchored component of membrane (GO:0031225)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TCTGGGCGTCGCCAAAATCAT	0.443																																						ENST00000326245.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21						c.(640-642)ggC>ggT		intelectin 1 (galactofuranose binding)							181.0	181.0	181.0					1																	160850421		2203	4300	6503	SO:0001819	synonymous_variant	55600				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding	g.chr1:160850421G>A	AB036706	CCDS1211.1	1q21.3	2008-02-05			ENSG00000179914	ENSG00000179914			18259	protein-coding gene	gene with protein product		609873				11313366, 11181563	Standard	NM_017625		Approved	ITLN, FLJ20022, LFR, HL-1, hIntL	uc001fxc.3	Q8WWA0	OTTHUMG00000028604	ENST00000326245.3:c.642C>T	1.37:g.160850421G>A						ITLN1_ENST00000487531.1_5'UTR	p.G214G	NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		6	757	-	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		214			Fibrinogen C-terminal.		Q5IWS4|Q5VYI4|Q6YDJ3|Q9NP67	Silent	SNP	ENST00000326245.3	37	c.642C>T	CCDS1211.1																																																																																				0.443	ITLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071462.1	NM_017625		7	785	0	0	0	1	0	7	785				
PCDHA11	56138	broad.mit.edu	37	5	140250312	140250312	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr5:140250312C>T	ENST00000398640.2	+	1	1624	c.1624C>T	c.(1624-1626)Ccg>Tcg	p.P542S	PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	542	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCGGGCGTGCCGCCTCTGAG	0.692																																						ENST00000398640.2																			0				breast(1)|lung(1)	2						c.(1624-1626)Ccg>Tcg									73.0	81.0	78.0					5																	140250312		2202	4298	6500	SO:0001583	missense	0							g.chr5:140250312C>T	AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.1624C>T	5.37:g.140250312C>T	ENSP00000381636:p.Pro542Ser					PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron	p.P542S	NM_018902.3	NP_061725.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1624	+								B2RN58|O75279	Missense_Mutation	SNP	ENST00000398640.2	37	c.1624C>T	CCDS47284.1	.	.	.	.	.	.	.	.	.	.	C	19.23	3.788483	0.70337	.	.	ENSG00000249158	ENST00000398640	T	0.56776	0.44	5.15	5.15	0.70609	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.78698	0.4324	M	0.92026	3.265	0.35643	D	0.811176	D;D	0.89917	1.0;1.0	D;D	0.71414	0.969;0.973	D	0.87476	0.2417	9	0.87932	D	0	.	18.2779	0.90089	0.0:1.0:0.0:0.0	.	542;542	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	S	542	ENSP00000381636:P542S	ENSP00000381636:P542S	P	+	1	0	PCDHA11	140230496	0.999000	0.42202	0.994000	0.49952	0.949000	0.60115	5.585000	0.67497	2.398000	0.81561	0.556000	0.70494	CCG		0.692	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902		7	651	0	0	0	1	0	7	651				
ZNF483	158399	broad.mit.edu	37	9	114304261	114304261	+	Missense_Mutation	SNP	G	G	A	rs201645923		TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr9:114304261G>A	ENST00000309235.5	+	6	1204	c.1046G>A	c.(1045-1047)cGc>cAc	p.R349H	ZNF483_ENST00000358151.4_Intron	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	349					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)	p.R349H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						GTTCTGAACCGCAAGGAGAAA	0.423																																						ENST00000309235.5																			1	Substitution - Missense(1)	p.R349H(1)	large_intestine(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						c.(1045-1047)cGc>cAc		zinc finger protein 483							80.0	91.0	87.0					9																	114304261		2203	4299	6502	SO:0001583	missense	158399				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:114304261G>A	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.1046G>A	9.37:g.114304261G>A	ENSP00000311679:p.Arg349His					ZNF483_ENST00000358151.4_Intron	p.R349H	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN			6	1204	+			349					Q5VZN2|Q8NAE1	Missense_Mutation	SNP	ENST00000309235.5	37	c.1046G>A	CCDS35106.1	.	.	.	.	.	.	.	.	.	.	G	10.19	1.281994	0.23392	.	.	ENSG00000173258	ENST00000309235	T	0.04917	3.53	4.55	2.71	0.32032	.	0.470780	0.18592	N	0.136701	T	0.01489	0.0048	N	0.00138	-2.015	0.25163	N	0.990339	B	0.18968	0.032	B	0.10450	0.005	T	0.43798	-0.9369	10	0.30854	T	0.27	-6.2832	9.1112	0.36730	0.1807:0.0:0.8193:0.0	.	349	Q8TF39	ZN483_HUMAN	H	349	ENSP00000311679:R349H	ENSP00000311679:R349H	R	+	2	0	ZNF483	113344082	0.000000	0.05858	0.765000	0.31456	0.035000	0.12851	0.761000	0.26489	0.858000	0.35431	-0.150000	0.13652	CGC		0.423	ZNF483-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053641.1	XM_088567		9	687	0	0	0	1	0	9	687				
RBBP8	5932	broad.mit.edu	37	18	20602110	20602110	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr18:20602110G>A	ENST00000399722.2	+	18	2824	c.2473G>A	c.(2473-2475)Gca>Aca	p.A825T	RBBP8_ENST00000399725.2_Silent_p.Q792Q|RBBP8_ENST00000327155.5_Missense_Mutation_p.A825T|RBBP8_ENST00000360790.5_Missense_Mutation_p.A830T|Y_RNA_ENST00000411091.1_RNA|RBBP8_ENST00000581687.1_Missense_Mutation_p.A3T	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	825					blastocyst hatching (GO:0001835)|cell cycle checkpoint (GO:0000075)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|G2 DNA damage checkpoint (GO:0031572)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	damaged DNA binding (GO:0003684)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			AGATATGCCAGCAGAAGAAAG	0.353								Homologous recombination																														ENST00000399722.2																			0				central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24						c.(2473-2475)Gca>Aca	Homologous recombination	retinoblastoma binding protein 8							122.0	131.0	128.0					18																	20602110		2203	4300	6503	SO:0001583	missense	5932				cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity	g.chr18:20602110G>A	AF043431	CCDS11874.1, CCDS11875.1	18q11.2	2012-11-05	2001-11-28		ENSG00000101773	ENSG00000101773			9891	protein-coding gene	gene with protein product	"""CTBP-interacting protein"""	604124	"""retinoblastoma-binding protein 8"", ""Seckel syndrome 2"""	SCKL2		9721205, 17965729, 21998596	Standard	NM_002894		Approved	CtIP, RIM, COM1	uc002ktw.3	Q99708	OTTHUMG00000131769	ENST00000399722.2:c.2473G>A	18.37:g.20602110G>A	ENSP00000382628:p.Ala825Thr					RBBP8_ENST00000327155.5_Missense_Mutation_p.A825T|RBBP8_ENST00000399725.2_Silent_p.Q792Q|RBBP8_ENST00000581687.1_Missense_Mutation_p.A3T|RBBP8_ENST00000360790.5_Missense_Mutation_p.A830T	p.A825T	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;0.00196)		18	2824	+	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		825					A6NKN2|A8K8W6|E7ETY1|O75371|Q8NHQ3	Missense_Mutation	SNP	ENST00000399722.2	37	c.2473G>A	CCDS11875.1	.	.	.	.	.	.	.	.	.	.	G	14.30	2.495044	0.44352	.	.	ENSG00000101773	ENST00000327155;ENST00000399722;ENST00000360790	T;T;T	0.32272	1.47;1.47;1.46	5.93	3.14	0.36123	.	0.054739	0.64402	D	0.000001	T	0.25606	0.0623	L	0.29908	0.895	0.32479	N	0.541741	P;P	0.47191	0.891;0.656	P;B	0.46419	0.516;0.297	T	0.22695	-1.0209	10	0.25751	T	0.34	-9.1687	10.6324	0.45545	0.0674:0.2497:0.6829:0.0	.	830;825	E7ETY1;Q99708	.;COM1_HUMAN	T	825;825;830	ENSP00000323050:A825T;ENSP00000382628:A825T;ENSP00000354024:A830T	ENSP00000323050:A825T	A	+	1	0	RBBP8	18856108	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	7.513000	0.81739	0.384000	0.24942	0.585000	0.79938	GCA		0.353	RBBP8-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446387.1	NM_203291		6	770	0	0	0	1	0	6	770				
KLHL31	401265	broad.mit.edu	37	6	53519025	53519025	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr6:53519025G>A	ENST00000407079.1	-	1	1045	c.1046C>T	c.(1045-1047)aCg>aTg	p.T349M	KLHL31_ENST00000370905.3_Missense_Mutation_p.T349M			Q9H511	KLH31_HUMAN	kelch-like family member 31	349					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					TGGCATTTCCGTAAGCTTGCT	0.483																																						ENST00000370905.3																			0				autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20						c.(1045-1047)aCg>aTg		kelch-like family member 31							105.0	100.0	102.0					6																	53519025		2203	4300	6503	SO:0001583	missense	401265				regulation of transcription, DNA-dependent|transcription, DNA-dependent			g.chr6:53519025G>A		CCDS34478.1	6p12.1	2013-09-27	2013-02-22	2007-01-09	ENSG00000124743	ENSG00000124743		"""Kelch-like"", ""BTB/POZ domain containing"""	21353	protein-coding gene	gene with protein product		610749	"""kelch repeat and BTB (POZ) domain containing 1"", ""kelch-like 31 (Drosophila)"""	KBTBD1			Standard	NM_001003760		Approved	bA345L23.2, BKLHD6	uc003pcb.4	Q9H511	OTTHUMG00000014882	ENST00000407079.1:c.1046C>T	6.37:g.53519025G>A	ENSP00000384644:p.Thr349Met					KLHL31_ENST00000407079.1_Missense_Mutation_p.T349M	p.T349M	NM_001003760.4	NP_001003760.2	Q9H511	KLH31_HUMAN			2	1186	-	Lung NSC(77;0.0158)		349					A6N9J2|B2RP49	Missense_Mutation	SNP	ENST00000407079.1	37	c.1046C>T	CCDS34478.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.453374	0.63290	.	.	ENSG00000124743	ENST00000370905;ENST00000407079	T;T	0.68025	-0.3;-0.3	5.25	5.25	0.73442	Galactose oxidase, beta-propeller (1);	0.095468	0.64402	D	0.000001	T	0.75852	0.3906	M	0.82716	2.605	0.58432	D	0.999994	D	0.76494	0.999	P	0.57283	0.817	T	0.80621	-0.1301	10	0.87932	D	0	.	15.4902	0.75600	0.0:0.1482:0.8518:0.0	.	349	Q9H511	KLH31_HUMAN	M	349	ENSP00000359942:T349M;ENSP00000384644:T349M	ENSP00000359942:T349M	T	-	2	0	KLHL31	53626984	1.000000	0.71417	0.994000	0.49952	0.980000	0.70556	7.818000	0.86416	2.467000	0.83353	0.561000	0.74099	ACG		0.483	KLHL31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040965.1	NM_001003760		5	357	0	0	0	1	0	5	357				
LRRC37A4P	55073	broad.mit.edu	37	17	43587657	43587657	+	RNA	SNP	C	C	T			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr17:43587657C>T	ENST00000579913.1	-	0	1396				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		GGTGACAACACATCTGTTTTA	0.323																																						ENST00000253803.2																			0																																																			0							g.chr17:43587657C>T	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587657C>T						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.323	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		8	469	0	0	0	1	0	8	469				
KCNV2	169522	broad.mit.edu	37	9	2718192	2718192	+	Silent	SNP	C	C	T			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr9:2718192C>T	ENST00000382082.3	+	1	691	c.453C>T	c.(451-453)ttC>ttT	p.F151F		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	151					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)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		AATACTTCTTCGACCGCGACC	0.652																																						ENST00000382082.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35						c.(451-453)ttC>ttT		potassium channel, subfamily V, member 2							25.0	22.0	23.0					9																	2718192		2201	4298	6499	SO:0001819	synonymous_variant	169522					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr9:2718192C>T	AF348983	CCDS6447.1	9p24.2	2011-07-05			ENSG00000168263	ENSG00000168263		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	19698	protein-coding gene	gene with protein product		607604				12060745, 16382104	Standard	NM_133497		Approved	Kv8.2	uc003zho.2	Q8TDN2	OTTHUMG00000019449	ENST00000382082.3:c.453C>T	9.37:g.2718192C>T							p.F151F	NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN		GBM - Glioblastoma multiforme(50;0.0257)	1	691	+			151					Q5T6X0	Silent	SNP	ENST00000382082.3	37	c.453C>T	CCDS6447.1																																																																																				0.652	KCNV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051528.1	NM_133497		8	69	0	0	0	1	0	8	69				
ABCC10	89845	broad.mit.edu	37	6	43413586	43413586	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr6:43413586C>T	ENST00000372530.4	+	15	3495	c.3280C>T	c.(3280-3282)Cgc>Tgc	p.R1094C	ABCC10_ENST00000244533.3_Missense_Mutation_p.R1066C	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	1094	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	GGAGCTGCGGCGCCTGGGCAG	0.652																																						ENST00000244533.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(3196-3198)Cgc>Tgc		ATP-binding cassette, sub-family C (CFTR/MRP), member 10							33.0	35.0	34.0					6																	43413586		2202	4299	6501	SO:0001583	missense	89845					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr6:43413586C>T	U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"""ATP binding cassette transporters / subfamily C"""	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.3280C>T	6.37:g.43413586C>T	ENSP00000361608:p.Arg1094Cys					ABCC10_ENST00000372530.4_Missense_Mutation_p.R1094C	p.R1066C	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		13	3555	+	all_lung(25;0.00536)		1094			ABC transmembrane type-1 2.		Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Missense_Mutation	SNP	ENST00000372530.4	37	c.3196C>T	CCDS56430.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.299799	0.81136	.	.	ENSG00000124574	ENST00000372530;ENST00000244533	D;D	0.94376	-3.41;-3.41	4.81	3.92	0.45320	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.97321	0.9124	H	0.97131	3.945	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98014	1.0367	10	0.87932	D	0	-11.614	12.2499	0.54591	0.3088:0.6912:0.0:0.0	.	1066;1094	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	C	1094;1066	ENSP00000361608:R1094C;ENSP00000244533:R1066C	ENSP00000244533:R1066C	R	+	1	0	ABCC10	43521564	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.755000	0.68750	1.200000	0.43188	0.655000	0.94253	CGC		0.652	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450		38	215	0	0	0	1	0	38	215				
ZP3	7784	broad.mit.edu	37	7	76062797	76062797	+	Silent	SNP	C	C	T	rs371699247		TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr7:76062797C>T	ENST00000394857.3	+	4	604	c.546C>T	c.(544-546)aaC>aaT	p.N182N	ZP3_ENST00000416245.1_Silent_p.N6N|ZP3_ENST00000336517.4_Silent_p.N131N	NM_001110354.1	NP_001103824.1	P21754	ZP3_HUMAN	zona pellucida glycoprotein 3 (sperm receptor)	182	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				binding of sperm to zona pellucida (GO:0007339)|blastocyst formation (GO:0001825)|calcium ion transmembrane transport (GO:0070588)|egg coat formation (GO:0035803)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|intracellular protein transport (GO:0006886)|intracellular signal transduction (GO:0035556)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|negative regulation of transcription, DNA-templated (GO:0045892)|oocyte development (GO:0048599)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of acrosomal vesicle exocytosis (GO:2000368)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of antral ovarian follicle growth (GO:2000388)|positive regulation of calcium ion import (GO:0090280)|positive regulation of humoral immune response (GO:0002922)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of ovarian follicle development (GO:2000386)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type IV hypersensitivity (GO:0001809)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|outer acrosomal membrane (GO:0002081)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	acrosin binding (GO:0032190)|carbohydrate binding (GO:0030246)|manganese ion transmembrane transporter activity (GO:0005384)|signal transducer activity (GO:0004871)|store-operated calcium channel activity (GO:0015279)			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7						AGAACTGGAACGCTGAGAAGA	0.597																																						ENST00000416245.1																			0				endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7						c.(16-18)aaC>aaT		zona pellucida glycoprotein 3 (sperm receptor)							69.0	67.0	67.0					7																	76062797		2203	4300	6503	SO:0001819	synonymous_variant	7784				binding of sperm to zona pellucida|blastocyst formation|egg coat formation|humoral immune response mediated by circulating immunoglobulin|intracellular protein transport|negative regulation of binding of sperm to zona pellucida|negative regulation of transcription, DNA-dependent|oocyte development|phosphatidylinositol-mediated signaling|positive regulation of acrosomal vesicle exocytosis|positive regulation of acrosome reaction|positive regulation of antral ovarian follicle growth|positive regulation of calcium ion import|positive regulation of calcium ion transport via store-operated calcium channel activity|positive regulation of humoral immune response|positive regulation of interferon-gamma production|positive regulation of interleukin-4 production|positive regulation of leukocyte migration|positive regulation of ovarian follicle development|positive regulation of phosphatidylinositol biosynthetic process|positive regulation of protein kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of T cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of type IV hypersensitivity|protein kinase C signaling cascade	endoplasmic reticulum|extracellular space|Golgi apparatus|integral to membrane|multivesicular body|outer acrosomal membrane|perinuclear region of cytoplasm|plasma membrane|proteinaceous extracellular matrix	acrosin binding|manganese ion transmembrane transporter activity|receptor activity|sugar binding	g.chr7:76062797C>T	M60504	CCDS5586.1, CCDS47618.1	7q11.23	2014-07-04	2002-09-17	2002-09-20	ENSG00000188372	ENSG00000188372		"""Zona pellucida glycoproteins"""	13189	protein-coding gene	gene with protein product		182889	"""zona pellucida glycoprotein 3A (sperm receptor)"""	ZP3A, ZP3B		1478648	Standard	NM_007155		Approved	ZP3-424, ZP3-372, ZPC	uc003ufd.4	P21754	OTTHUMG00000130575	ENST00000394857.3:c.546C>T	7.37:g.76062797C>T						ZP3_ENST00000336517.4_Silent_p.N131N|ZP3_ENST00000394857.3_Silent_p.N182N	p.N6N			P21754	ZP3_HUMAN			3	1111	+			182					Q06633|Q29RW0	Silent	SNP	ENST00000394857.3	37	c.18C>T	CCDS47618.1	.	.	.	.	.	.	.	.	.	.	C	3.906	-0.021105	0.07634	.	.	ENSG00000188372	ENST00000394860	.	.	.	5.4	-2.82	0.05787	.	.	.	.	.	T	0.18593	0.0446	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.27088	-1.0084	4	.	.	.	-12.4296	1.8203	0.03109	0.1105:0.2938:0.2176:0.3782	.	.	.	.	M	4	.	.	T	+	2	0	ZP3	75900733	0.000000	0.05858	0.006000	0.13384	0.117000	0.20001	-3.225000	0.00550	-0.242000	0.09667	-0.258000	0.10820	ACG		0.597	ZP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253004.1			51	250	0	0	0	1	0	51	250				
GABBR1	2550	broad.mit.edu	37	6	29574715	29574715	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr6:29574715C>T	ENST00000377034.4	-	18	2511	c.2176G>A	c.(2176-2178)Gcc>Acc	p.A726T	GABBR1_ENST00000376977.3_3'UTR|GABBR1_ENST00000377012.4_Missense_Mutation_p.A609T|GABBR1_ENST00000377016.4_Missense_Mutation_p.A664T|GABBR1_ENST00000355973.3_Missense_Mutation_p.A609T	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	726					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	G-protein coupled GABA receptor activity (GO:0004965)	p.A726T(1)		endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)|Vigabatrin(DB01080)	TGCCAGATGGCGAGAGTGAGG	0.577																																						ENST00000377034.4																			1	Substitution - Missense(1)	p.A726T(1)	prostate(1)	endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(2176-2178)Gcc>Acc		gamma-aminobutyric acid (GABA) B receptor, 1	Baclofen(DB00181)|Progabide(DB00837)						95.0	83.0	87.0					6																	29574715		1511	2709	4220	SO:0001583	missense	0				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr6:29574715C>T	Y11044	CCDS4663.1, CCDS4664.1, CCDS4665.1	6p21.3	2012-08-29			ENSG00000204681	ENSG00000204681		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4070	protein-coding gene	gene with protein product	"""GABA-B receptor"""	603540				9753614, 9798068	Standard	NM_001470		Approved	hGB1a, GPRC3A	uc003nmt.4	Q9UBS5	OTTHUMG00000031095	ENST00000377034.4:c.2176G>A	6.37:g.29574715C>T	ENSP00000366233:p.Ala726Thr					GABBR1_ENST00000377012.4_Missense_Mutation_p.A609T|GABBR1_ENST00000377016.4_Missense_Mutation_p.A664T|GABBR1_ENST00000376977.3_3'UTR|GABBR1_ENST00000355973.3_Missense_Mutation_p.A609T	p.A726T	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN			18	2511	-			726					B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	Missense_Mutation	SNP	ENST00000377034.4	37	c.2176G>A	CCDS4663.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.202|8.202	0.798448|0.798448	0.16397|0.16397	.|.	.|.	ENSG00000204681|ENSG00000204681	ENST00000355973;ENST00000377016;ENST00000377012;ENST00000377034|ENST00000485026	D;D;D;D|.	0.87491|.	-2.26;-2.26;-2.26;-2.26|.	4.27|4.27	4.27|4.27	0.50696|0.50696	GPCR, family 3, C-terminal (2);|.	0.374080|.	0.26109|.	N|.	0.026294|.	T|T	0.14227|0.14227	0.0344|0.0344	N|N	0.01624|0.01624	-0.795|-0.795	0.47308|0.47308	D|D	0.999387|0.999387	P;P;P|.	0.48503|.	0.911;0.91;0.91|.	B;B;B|.	0.38056|.	0.224;0.264;0.195|.	T|T	0.16100|0.16100	-1.0414|-1.0414	10|5	0.14656|.	T|.	0.56|.	-14.1093|-14.1093	14.5609|14.5609	0.68136|0.68136	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	664;726;609|.	Q9UBS5-3;Q9UBS5;Q5SUJ9|.	.;GABR1_HUMAN;.|.	T|H	609;664;609;726|106	ENSP00000348248:A609T;ENSP00000366215:A664T;ENSP00000366211:A609T;ENSP00000366233:A726T|.	ENSP00000348248:A609T|.	A|R	-|-	1|2	0|0	GABBR1|GABBR1	29682694|29682694	0.852000|0.852000	0.29690|0.29690	0.930000|0.930000	0.37139|0.37139	0.882000|0.882000	0.50991|0.50991	1.632000|1.632000	0.37102|0.37102	2.075000|2.075000	0.62263|0.62263	0.563000|0.563000	0.77884|0.77884	GCC|CGC		0.577	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076141.3			35	205	0	0	0	1	0	35	205				
ZNF506	440515	broad.mit.edu	37	19	19905821	19905821	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr19:19905821T>C	ENST00000540806.2	-	4	963	c.875A>G	c.(874-876)aAa>aGa	p.K292R	CTC-559E9.6_ENST00000591884.1_RNA|ZNF506_ENST00000443905.2_Missense_Mutation_p.K292R|ZNF506_ENST00000587461.1_Intron|CTC-559E9.6_ENST00000589657.1_RNA|CTC-559E9.4_ENST00000590274.1_lincRNA|ZNF506_ENST00000450683.2_Missense_Mutation_p.K260R			Q5JVG8	ZN506_HUMAN	zinc finger protein 506	292					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1)	14						AATAAAGGCTTTGCCACATTT	0.383																																						ENST00000443905.2																			0				breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1)	14						c.(874-876)aAa>aGa		zinc finger protein 506							48.0	52.0	51.0					19																	19905821		2198	4300	6498	SO:0001583	missense	440515				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding	g.chr19:19905821T>C	AK095575	CCDS42531.1, CCDS46027.1	19p13.11	2013-01-08				ENSG00000081665		"""Zinc fingers, C2H2-type"", ""-"""	23780	protein-coding gene	gene with protein product							Standard	NM_001099269		Approved	DKFZp761G1812	uc010eci.2	Q5JVG8		ENST00000540806.2:c.875A>G	19.37:g.19905821T>C	ENSP00000440625:p.Lys292Arg					ZNF506_ENST00000587461.1_Intron|ZNF506_ENST00000540806.2_Missense_Mutation_p.K292R|ZNF506_ENST00000450683.2_Missense_Mutation_p.K260R|CTC-559E9.6_ENST00000589657.1_RNA|CTC-559E9.6_ENST00000591884.1_RNA|CTC-559E9.4_ENST00000590274.1_lincRNA	p.K292R			Q5JVG8	ZN506_HUMAN			4	1022	-			292					B3KTH6	Missense_Mutation	SNP	ENST00000540806.2	37	c.875A>G	CCDS42531.1	.	.	.	.	.	.	.	.	.	.	-	12.46	1.944705	0.34283	.	.	ENSG00000081665	ENST00000443905;ENST00000540806;ENST00000450683	T;T;T	0.35789	1.75;1.75;1.29	0.974	0.974	0.19715	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.28366	0.0701	L	0.33339	1.005	0.30874	N	0.732139	B;B	0.20368	0.044;0.005	B;B	0.32465	0.146;0.009	T	0.37174	-0.9717	9	0.62326	D	0.03	.	5.7771	0.18285	0.0:0.0:0.0:1.0	.	292;260	Q5JVG8;Q5JVG8-2	ZN506_HUMAN;.	R	292;292;260	ENSP00000393835:K292R;ENSP00000440625:K292R;ENSP00000408892:K260R	ENSP00000393835:K292R	K	-	2	0	ZNF506	19766821	0.999000	0.42202	0.339000	0.25562	0.301000	0.27625	5.174000	0.65015	0.358000	0.24211	0.347000	0.21830	AAA		0.383	ZNF506-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460794.1	XM_036218		44	278	0	0	0	1	0	44	278				
VSTM4	196740	broad.mit.edu	37	10	50315941	50315941	+	Missense_Mutation	SNP	C	C	G			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr10:50315941C>G	ENST00000332853.4	-	2	178	c.155G>C	c.(154-156)aGg>aCg	p.R52T	VSTM4_ENST00000298454.3_Missense_Mutation_p.R52T	NM_001031746.3	NP_001026916.2	Q8IW00	VSTM4_HUMAN	V-set and transmembrane domain containing 4	52	Ig-like.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						GTCCTTCCGCCTTTTCTGGGA	0.617																																						ENST00000332853.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						c.(154-156)aGg>aCg		V-set and transmembrane domain containing 4							43.0	46.0	45.0					10																	50315941		2203	4300	6503	SO:0001583	missense	196740					integral to membrane|plasma membrane		g.chr10:50315941C>G	BC041414	CCDS7228.1, CCDS31198.1	10q11.23	2013-01-11	2011-07-01	2011-07-01	ENSG00000165633	ENSG00000165633		"""Immunoglobulin superfamily / V-set domain containing"""	26470	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 72"""	C10orf72			Standard	XR_246075		Approved	FLJ31737	uc001jhf.2	Q8IW00	OTTHUMG00000018184	ENST00000332853.4:c.155G>C	10.37:g.50315941C>G	ENSP00000331062:p.Arg52Thr					VSTM4_ENST00000298454.3_Missense_Mutation_p.R52T	p.R52T	NM_001031746.3	NP_001026916.2	Q8IW00	CJ072_HUMAN			2	178	-			52			Ig-like.		B4DNI6|Q96MX7	Missense_Mutation	SNP	ENST00000332853.4	37	c.155G>C	CCDS31198.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.480158	0.84747	.	.	ENSG00000165633	ENST00000332853;ENST00000298454	T;T	0.02446	4.29;4.29	5.83	5.83	0.93111	.	0.097665	0.64402	D	0.000003	T	0.13200	0.0320	M	0.62723	1.935	0.53005	D	0.999964	D;D	0.76494	0.999;0.997	D;D	0.69142	0.961;0.962	T	0.06427	-1.0827	10	0.24483	T	0.36	-35.4731	20.1152	0.97926	0.0:1.0:0.0:0.0	.	52;52	Q8IW00-2;Q8IW00	.;VSTM4_HUMAN	T	52	ENSP00000331062:R52T;ENSP00000298454:R52T	ENSP00000298454:R52T	R	-	2	0	VSTM4	49985947	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.120000	0.64685	2.750000	0.94351	0.655000	0.94253	AGG		0.617	VSTM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047966.2	NM_144984		9	98	0	0	0	1	0	9	98				
TP53	7157	broad.mit.edu	37	17	7578554	7578554	+	Splice_Site	SNP	A	A	T			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr17:7578554A>T	ENST00000269305.4	-	5	565	c.376T>A	c.(376-378)Tac>Aac	p.Y126N	TP53_ENST00000445888.2_Splice_Site_p.Y126N|TP53_ENST00000455263.2_Splice_Site_p.Y126N|TP53_ENST00000359597.4_Splice_Site_p.Y126N|TP53_ENST00000413465.2_Splice_Site_p.Y126N|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Splice_Site_p.Y126N	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	126	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> G (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; 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.Y126D(9)|p.0?(8)|p.Y126N(6)|p.Y126_K132delYSPALNK(6)|p.Y126_N131delYSPALN(3)|p.Y33D(2)|p.V73fs*9(1)|p.?(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)|p.Y126fs*18(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)	GCAGGGGAGTACTGTAGGAAG	0.557		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"""		40	Substitution - Missense(17)|Deletion - In frame(9)|Whole gene deletion(8)|Deletion - Frameshift(4)|Insertion - In frame(1)|Unknown(1)	p.Y126D(9)|p.0?(8)|p.Y126N(6)|p.Y126_K132delYSPALNK(6)|p.Y126_N131delYSPALN(3)|p.Y33D(2)|p.V73fs*9(1)|p.?(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)|p.Y126fs*18(1)	central_nervous_system(6)|haematopoietic_and_lymphoid_tissue(6)|upper_aerodigestive_tract(4)|large_intestine(4)|lung(4)|prostate(4)|bone(4)|breast(3)|ovary(2)|stomach(1)|liver(1)|oesophagus(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	CI004819	TP53	I		c.e5-1	Other conserved DNA damage response genes	tumor protein p53							42.0	43.0	43.0					17																	7578554		2203	4300	6503	SO:0001630	splice_region_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578554A>T	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.376-1T>A	17.37:g.7578554A>T		HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000413465.2_Splice_Site_p.Y126_splice|TP53_ENST00000359597.4_Splice_Site_p.Y126_splice|TP53_ENST00000455263.2_Splice_Site_p.Y126_splice|TP53_ENST00000269305.4_Splice_Site_p.Y126_splice|TP53_ENST00000445888.2_Splice_Site_p.Y126_splice	p.Y126_splice	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	508	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	126		Y -> C (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> G (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; 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	Splice_Site	SNP	ENST00000269305.4	37	c.375_splice	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	25.5	4.639687	0.87760	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793;ENST00000503591	D;D;D;D;D;D;D;D;D	0.99869	-7.33;-7.33;-7.33;-7.33;-7.33;-7.33;-7.33;-7.33;-7.33	5.48	5.48	0.80851	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	0.99869	0.9938	M	0.90483	3.12	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.998;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.999;0.999;1.0;0.961;1.0;1.0;1.0	D	0.96375	0.9277	10	0.87932	D	0	-28.2517	13.8301	0.63375	1.0:0.0:0.0:0.0	.	87;126;126;33;126;126;126	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	N	126;126;126;126;126;126;115;33;33;126;126	ENSP00000410739:Y126N;ENSP00000352610:Y126N;ENSP00000269305:Y126N;ENSP00000398846:Y126N;ENSP00000391127:Y126N;ENSP00000391478:Y126N;ENSP00000423862:Y33N;ENSP00000424104:Y126N;ENSP00000426252:Y126N	ENSP00000269305:Y126N	Y	-	1	0	TP53	7519279	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	9.240000	0.95396	2.206000	0.71126	0.533000	0.62120	TAC		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Missense_Mutation	20	80	0	0	0	1	0	20	80				
ACAP2	23527	broad.mit.edu	37	3	195027287	195027287	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr3:195027287G>A	ENST00000326793.6	-	13	1299	c.1069C>T	c.(1069-1071)Cag>Tag	p.Q357*		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	357	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cellular response to nerve growth factor stimulus (GO:1990090)|protein localization to endosome (GO:0036010)|regulation of ARF GTPase activity (GO:0032312)	endosome membrane (GO:0010008)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						ATACTGGTCTGAACAGCCTTA	0.383																																						ENST00000326793.6																			0				cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						c.(1069-1071)Cag>Tag		ArfGAP with coiled-coil, ankyrin repeat and PH domains 2							177.0	178.0	178.0					3																	195027287		2203	4300	6503	SO:0001587	stop_gained	23527				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr3:195027287G>A		CCDS33924.1	3q29	2013-01-10	2008-09-22	2008-09-22	ENSG00000114331	ENSG00000114331		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16469	protein-coding gene	gene with protein product		607766	"""centaurin, beta 2"""	CENTB2		11050434, 11062263	Standard	NM_012287		Approved	KIAA0041, CNT-B2	uc003fun.4	Q15057	OTTHUMG00000155885	ENST00000326793.6:c.1069C>T	3.37:g.195027287G>A	ENSP00000324287:p.Gln357*						p.Q357*	NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN			13	1299	-			357			PH.		A8K2V4|Q8N5Z8|Q9UQR3	Nonsense_Mutation	SNP	ENST00000326793.6	37	c.1069C>T	CCDS33924.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.017412|6.017412	0.97205|0.97205	.|.	.|.	ENSG00000114331|ENSG00000114331	ENST00000326793|ENST00000439758	.|.	.|.	.|.	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	0.051792|.	0.85682|.	D|.	0.000000|.	.|T	.|0.74869	.|0.3773	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73167	.|-0.4068	.|3	0.72032|.	D|.	0.01|.	.|.	18.484|18.484	0.90821|0.90821	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	357|231	.|.	ENSP00000324287:Q357X|.	Q|S	-|-	1|2	0|0	ACAP2|ACAP2	196508576|196508576	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.869000|9.869000	0.99810|0.99810	2.593000|2.593000	0.87608|0.87608	0.511000|0.511000	0.50034|0.50034	CAG|TCA		0.383	ACAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342126.2	NM_012287		95	647	0	0	0	1	0	95	647				
ATRX	546	broad.mit.edu	37	X	76949326	76949326	+	Silent	SNP	G	G	T	rs398123424		TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chrX:76949326G>T	ENST00000373344.5	-	6	685	c.471C>A	c.(469-471)ctC>ctA	p.L157L	ATRX_ENST00000373341.1_Silent_p.L118L|ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Intron	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	157					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						CGCGTTTTTTGAGATTTTCAG	0.348			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(469-471)ctC>ctA		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						151.0	132.0	138.0					X																	76949326		2203	4299	6502	SO:0001819	synonymous_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76949326G>T	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.471C>A	X.37:g.76949326G>T						ATRX_ENST00000395603.3_Intron|ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000373341.1_Silent_p.L118L	p.L157L	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			6	685	-			157					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Silent	SNP	ENST00000373344.5	37	c.471C>A	CCDS14434.1																																																																																				0.348	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		12	139	1	0	5.03518e-11	1	5.30841e-11	12	139				
MUC7	4589	broad.mit.edu	37	4	71346978	71346978	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr4:71346978T>C	ENST00000304887.5	+	3	707	c.517T>C	c.(517-519)Tct>Cct	p.S173P	MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000413702.1_Missense_Mutation_p.S173P|MUC7_ENST00000456088.1_Missense_Mutation_p.S173P	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	173	Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.S173P(3)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ACCCACACCTTCTGCAACTAC	0.522																																						ENST00000413702.1																			3	Substitution - Missense(3)	p.S173P(3)	lung(2)|kidney(1)	central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(517-519)Tct>Cct		mucin 7, secreted							341.0	284.0	303.0					4																	71346978		2203	4300	6503	SO:0001583	missense	4589					extracellular region	protein binding	g.chr4:71346978T>C	BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"""Mucins"""	7518	protein-coding gene	gene with protein product		158375	"""mucin 7, salivary"""			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.517T>C	4.37:g.71346978T>C	ENSP00000302021:p.Ser173Pro					MUC7_ENST00000304887.5_Missense_Mutation_p.S173P|MUC7_ENST00000456088.1_Missense_Mutation_p.S173P|MUC7_ENST00000514512.1_3'UTR	p.S173P	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	Lung(101;0.211)		4	805	+			173			Thr-rich.		Q9UCD7|Q9UCD8	Missense_Mutation	SNP	ENST00000304887.5	37	c.517T>C	CCDS3541.1	.	.	.	.	.	.	.	.	.	.	T	8.294	0.818323	0.16607	.	.	ENSG00000171195	ENST00000413702;ENST00000456088;ENST00000304887	T;T;T	0.52754	0.65;0.65;0.65	2.59	-1.83	0.07833	.	.	.	.	.	T	0.22360	0.0539	N	0.12182	0.205	0.09310	N	1	B	0.14805	0.011	B	0.10450	0.005	T	0.19451	-1.0305	8	.	.	.	-1.8981	3.858	0.08984	0.0:0.2646:0.3931:0.3423	.	173	Q8TAX7	MUC7_HUMAN	P	173	ENSP00000407422:S173P;ENSP00000400585:S173P;ENSP00000302021:S173P	.	S	+	1	0	MUC7	71381567	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.097000	0.01348	-0.350000	0.08262	-0.605000	0.04089	TCT		0.522	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2	NM_152291		5	567	0	0	0	1	0	5	567				
EVI5	7813	broad.mit.edu	37	1	93159366	93159366	+	Frame_Shift_Del	DEL	T	T	-	rs200529227		TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr1:93159366delT	ENST00000370331.1	-	9	1231	c.1222delA	c.(1222-1224)atgfs	p.M408fs	EVI5_ENST00000543509.1_Frame_Shift_Del_p.M408fs|EVI5_ENST00000540033.1_Frame_Shift_Del_p.M408fs	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	408	Dimerization.|Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|Targeting to the centrosomes.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|retrograde transport, endosome to Golgi (GO:0042147)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		TACTTTTTCATTTTTTTTGAA	0.318																																						ENST00000370331.1																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38						c.(1222-1224)tgfs		ecotropic viral integration site 5							76.0	82.0	80.0					1																	93159366		2202	4297	6499	SO:0001589	frameshift_variant	7813				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity	g.chr1:93159366delT	AF008915	CCDS30774.1	1p22	2013-07-09			ENSG00000067208	ENSG00000067208			3501	protein-coding gene	gene with protein product	"""neuroblastoma stage 4S gene"""	602942				9618176	Standard	XM_005271180		Approved	NB4S	uc001dox.3	O60447	OTTHUMG00000010895	ENST00000370331.1:c.1222delA	1.37:g.93159366delT	ENSP00000359356:p.Met408fs					EVI5_ENST00000540033.1_Frame_Shift_Del_p.M408fs|EVI5_ENST00000543509.1_Frame_Shift_Del_p.M408fs	p.M408fs	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)	9	1231	-		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)	408			Dimerization.|Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|Targeting to the centrosomes.		A6NKX8|B9A6J0|Q9H1Y9	Frame_Shift_Del	DEL	ENST00000370331.1	37	c.1222delA	CCDS30774.1																																																																																				0.318	EVI5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030047.1	NM_005665		10	488						10	488	---	---	---	---
BCL9	607	broad.mit.edu	37	1	147091501	147091501	+	Frame_Shift_Del	DEL	C	C	-			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr1:147091501delC	ENST00000234739.3	+	8	2280	c.1540delC	c.(1540-1542)cccfs	p.P517fs		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	517	Poly-Pro.|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)					GGTCCGAGGACCCCCCCCTCC	0.582			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.(1540-1542)ccfs		B-cell CLL/lymphoma 9				35,42,4183		0,0,35,4,34,2057	60.0	70.0	66.0			3.6	1.0	1		67	38,97,8115		0,0,38,24,49,4014	no	codingComplex	BCL9	NM_004326.2		0,0,73,28,83,6071	A1A1,A1A2,A1R,A2A2,A2R,RR		1.6364,1.8075,1.6946			147091501	73,139,12298	2203	4300	6503	SO:0001589	frameshift_variant	607				Wnt receptor signaling pathway	nucleus	protein binding	g.chr1:147091501delC	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.1540delC	1.37:g.147091501delC	ENSP00000234739:p.Pro517fs						p.P517fs	NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN			8	2280	+	all_hematologic(923;0.115)		517			Poly-Pro.|Pro-rich.		Q5T489	Frame_Shift_Del	DEL	ENST00000234739.3	37	c.1540delC	CCDS30833.1																																																																																				0.582	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	NM_004326		7	593						7	593	---	---	---	---
TCHH	7062	broad.mit.edu	37	1	152083468	152083469	+	Frame_Shift_Ins	INS	-	-	G	rs368293517		TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr1:152083468_152083469insG	ENST00000368804.1	-	2	2223_2224	c.2224_2225insC	c.(2224-2226)cggfs	p.R742fs		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	742					keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCACTCTCCCGGCGCCGCCTC	0.653																																						ENST00000368804.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(2224-2226)ggafs		trichohyalin																																				SO:0001589	frameshift_variant	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152083468_152083469insG	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.2225dupC	1.37:g.152083470_152083470dupG	ENSP00000357794:p.Arg742fs						p.G742fs	NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	2223_2224	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		742					Q5VUI3	Frame_Shift_Ins	INS	ENST00000368804.1	37	c.2224_2225insC	CCDS41396.1																																																																																				0.653	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		7	1068						7	1068	---	---	---	---
UBE2Q1	55585	broad.mit.edu	37	1	154523416	154523416	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr1:154523416delT	ENST00000292211.4	-	12	1314	c.1235delA	c.(1234-1236)aacfs	p.N412fs	UBE2Q1_ENST00000497453.1_5'Flank|UBE2Q1-AS1_ENST00000441613.1_RNA	NM_017582.6	NP_060052.3	Q7Z7E8	UB2Q1_HUMAN	ubiquitin-conjugating enzyme E2Q family member 1	412					embryo implantation (GO:0007566)|fertilization (GO:0009566)|mating behavior (GO:0007617)|prolactin secretion (GO:0070459)|protein ubiquitination (GO:0016567)|reproductive system development (GO:0061458)|suckling behavior (GO:0001967)		acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)	p.N412fs*>12(1)|p.G413fs*>11(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			AGCCTCACCGTTTTTTTCGTG	0.522																																						ENST00000292211.4																			2	Insertion - Frameshift(2)	p.N412fs*>12(1)|p.G413fs*>11(1)	haematopoietic_and_lymphoid_tissue(2)	endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16						c.(1234-1236)acfs		ubiquitin-conjugating enzyme E2Q family member 1							214.0	203.0	207.0					1																	154523416		2203	4300	6503	SO:0001589	frameshift_variant	55585						ATP binding|protein binding|ubiquitin-protein ligase activity	g.chr1:154523416delT	AJ243666	CCDS1069.1	1q22	2008-05-02	2008-05-02	2005-08-05	ENSG00000160714	ENSG00000160714		"""Ubiquitin-conjugating enzymes E2"""	15698	protein-coding gene	gene with protein product			"""ubiquitin-conjugating enzyme E2Q (putative)"""	UBE2Q			Standard	NM_017582		Approved	PRO3094, NICE-5	uc001fff.1	Q7Z7E8	OTTHUMG00000037265	ENST00000292211.4:c.1235delA	1.37:g.154523416delT	ENSP00000292211:p.Asn412fs						p.N412fs	NM_017582.6	NP_060052.3	Q7Z7E8	UB2Q1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		12	1314	-	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		412					B4DF92|Q3B841|Q5I0X2|Q6IS04|Q6P7P2|Q96MV4|Q9BVX5|Q9UGL6	Frame_Shift_Del	DEL	ENST00000292211.4	37	c.1235delA	CCDS1069.1																																																																																				0.522	UBE2Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090704.1	NM_017582		7	1208						7	1208	---	---	---	---
NOS1AP	9722	broad.mit.edu	37	1	162326888	162326890	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr1:162326888_162326890delCAG	ENST00000361897.5	+	8	1303_1305	c.901_903delCAG	c.(901-903)cagdel	p.Q306del	NOS1AP_ENST00000530878.1_In_Frame_Del_p.Q301del	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	306	Poly-Gln.				regulation of apoptotic process (GO:0042981)|regulation of nitric oxide biosynthetic process (GO:0045428)|regulation of nitric-oxide synthase activity (GO:0050999)		nitric-oxide synthase binding (GO:0050998)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			gcagctcctccagcagcAGCAGC	0.611																																						ENST00000361897.5																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32						c.(901-903)del		nitric oxide synthase 1 (neuronal) adaptor protein																																				SO:0001651	inframe_deletion	9722				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding	g.chr1:162326888_162326890delCAG	AB007933	CCDS1237.1, CCDS44267.1, CCDS53421.1	1q23.3	2010-08-20			ENSG00000198929	ENSG00000198929			16859	protein-coding gene	gene with protein product	"""C-terminal PDZ domain ligand of neuronal nitric oxide synthase"""	605551				9455484, 9459447	Standard	NM_001126060		Approved	KIAA0464, CAPON	uc001gbv.2	O75052	OTTHUMG00000024049	ENST00000361897.5:c.901_903delCAG	1.37:g.162326897_162326899delCAG	ENSP00000355133:p.Gln306del					NOS1AP_ENST00000530878.1_In_Frame_Del_p.Q301del	p.Q306del	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0537)		8	1303_1305	+	all_hematologic(112;0.203)		306			Poly-Gln.		B7ZLF5|O43564|Q3T551|Q5VU95	In_Frame_Del	DEL	ENST00000361897.5	37	c.901_903delCAG	CCDS1237.1																																																																																				0.611	NOS1AP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060555.2	NM_014697		7	248						7	248	---	---	---	---
POU2F1	5451	broad.mit.edu	37	1	167385016	167385018	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr1:167385016_167385018delCCA	ENST00000541643.3	+	17	2363_2365	c.2201_2203delCCA	c.(2200-2205)tccacc>tcc	p.T738del	POU2F1_ENST00000429375.2_In_Frame_Del_p.T698del|POU2F1_ENST00000367866.2_In_Frame_Del_p.T761del|POU2F1_ENST00000420254.3_Intron|POU2F1_ENST00000367862.5_In_Frame_Del_p.T750del|POU2F1_ENST00000367865.1_3'UTR			P14859	PO2F1_HUMAN	POU class 2 homeobox 1	738					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						GGGGCTGCGTCCACCACCACCAC	0.601																																						ENST00000367862.5																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						c.(2236-2241)tcc>t		POU class 2 homeobox 1																																				SO:0001651	inframe_deletion	5451				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:167385016_167385018delCCA	BC001664	CCDS1259.1, CCDS1259.2, CCDS55655.1, CCDS55656.1	1q24.2	2011-06-20	2007-07-13		ENSG00000143190	ENSG00000143190		"""Homeoboxes / POU class"""	9212	protein-coding gene	gene with protein product		164175	"""POU domain class 2, transcription factor 1"""	OTF1		1887216	Standard	NM_002697		Approved	OCT1	uc001gee.3	P14859	OTTHUMG00000034436	ENST00000541643.3:c.2201_2203delCCA	1.37:g.167385025_167385027delCCA	ENSP00000441285:p.Thr738del					POU2F1_ENST00000420254.3_Intron|POU2F1_ENST00000541643.3_In_Frame_Del_p.ST734del|POU2F1_ENST00000429375.2_In_Frame_Del_p.ST694del|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000367866.2_In_Frame_Del_p.ST757del	p.ST746del	NM_001198783.1	NP_001185712.1	P14859	PO2F1_HUMAN			16	2472_2474	+			734					B1AL91|B1AL93|B4E029|J3KP77|Q5TBT7|Q6PK46|Q8NEU9|Q9BPV1	In_Frame_Del	DEL	ENST00000541643.3	37	c.2237_2239delCCA																																																																																					0.601	POU2F1-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_002697		7	831						7	831	---	---	---	---
INTS7	25896	broad.mit.edu	37	1	212115191	212115193	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr1:212115191_212115193delTGC	ENST00000366994.3	-	20	2966_2968	c.2862_2864delGCA	c.(2860-2865)cagcaa>caa	p.954_955QQ>Q	INTS7_ENST00000366992.3_In_Frame_Del_p.934_935QQ>Q|INTS7_ENST00000366993.3_In_Frame_Del_p.940_941QQ>Q|INTS7_ENST00000440600.2_In_Frame_Del_p.905_906QQ>Q|INTS7_ENST00000469606.1_5'UTR	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	954	Gln-rich.				cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|snRNA processing (GO:0016180)	chromosome (GO:0005694)|integrator complex (GO:0032039)				NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		GGCATTGCGTTGCTGCTGCTGCT	0.443																																						ENST00000366994.3																			0				NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(2860-2865)caa>ca		integrator complex subunit 7																																				SO:0001651	inframe_deletion	25896				snRNA processing	integrator complex	protein binding	g.chr1:212115191_212115193delTGC	AK022509	CCDS1501.1, CCDS55684.1, CCDS55683.1, CCDS55685.1	1q32.3	2008-02-05	2006-03-15	2006-03-15	ENSG00000143493	ENSG00000143493			24484	protein-coding gene	gene with protein product		611350	"""chromosome 1 open reading frame 73"""	C1orf73		16239144	Standard	NM_015434		Approved	DKFZP434B168, INT7	uc001hiw.2	Q9NVH2	OTTHUMG00000037119	ENST00000366994.3:c.2862_2864delGCA	1.37:g.212115200_212115202delTGC	ENSP00000355961:p.Gln955del					INTS7_ENST00000366992.3_In_Frame_Del_p.QQ934del|INTS7_ENST00000440600.2_In_Frame_Del_p.QQ905del|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366993.3_In_Frame_Del_p.QQ940del	p.QQ954del	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)	20	2966_2968	-			954			Gln-rich.		B4DLZ6|B7WNP6|B7WPB6|Q8N4K7|Q8WUH5|Q9H9V3|Q9NVU5|Q9UFC6|Q9UFM3	In_Frame_Del	DEL	ENST00000366994.3	37	c.2862_2864delGCA	CCDS1501.1																																																																																				0.443	INTS7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090142.1	NM_015434		9	839						9	839	---	---	---	---
DNAH7	56171	broad.mit.edu	37	2	196788374	196788374	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr2:196788374delT	ENST00000312428.6	-	23	3870	c.3770delA	c.(3769-3771)aatfs	p.N1257fs		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1257	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATCGCTAATATTTTTTTTTAC	0.418																																						ENST00000312428.6																			0				NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(3769-3771)atfs		dynein, axonemal, heavy chain 7							103.0	95.0	97.0					2																	196788374		1906	4139	6045	SO:0001589	frameshift_variant	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196788374delT	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.3770delA	2.37:g.196788374delT	ENSP00000311273:p.Asn1257fs						p.N1257fs	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			23	3870	-			1257			Stem (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Frame_Shift_Del	DEL	ENST00000312428.6	37	c.3770delA	CCDS42794.1																																																																																				0.418	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		7	356						7	356	---	---	---	---
AAMP	14	broad.mit.edu	37	2	219134766	219134766	+	Frame_Shift_Del	DEL	G	G	-	rs368777489		TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr2:219134766delG	ENST00000248450.4	-	1	214	c.44delC	c.(43-45)ccafs	p.P15fs	PNKD_ENST00000273077.4_5'Flank|AAMP_ENST00000444053.1_Frame_Shift_Del_p.P15fs|AAMP_ENST00000420660.1_5'Flank|PNKD_ENST00000248451.3_5'Flank			Q13685	AAMP_HUMAN	angio-associated, migratory cell protein	15					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|positive regulation of endothelial cell migration (GO:0010595)|smooth muscle cell migration (GO:0014909)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)	p.L16fs*9(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1)	11		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGTCTCCAGTGGGGGGGTGTC	0.617																																						ENST00000248450.4																			1	Insertion - Frameshift(1)	p.L16fs*9(1)	ovary(1)	haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1)	11						c.(43-45)cafs		angio-associated, migratory cell protein							151.0	171.0	164.0					2																	219134766		2203	4300	6503	SO:0001589	frameshift_variant	14				angiogenesis|cell differentiation|positive regulation of endothelial cell migration|smooth muscle cell migration	cell surface|cytoplasm|plasma membrane	heparin binding	g.chr2:219134766delG	AB209790	CCDS33378.1	2q	2013-01-10			ENSG00000127837	ENSG00000127837		"""WD repeat domain containing"""	18	protein-coding gene	gene with protein product		603488				7743515	Standard	XM_005246325		Approved		uc002vhk.3	Q13685	OTTHUMG00000155202	ENST00000248450.4:c.44delC	2.37:g.219134766delG	ENSP00000248450:p.Pro15fs					AAMP_ENST00000444053.1_Frame_Shift_Del_p.P15fs	p.P15fs			Q13685	AAMP_HUMAN		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	1	214	-		Renal(207;0.0474)	15					Q8WUJ9|Q96H92	Frame_Shift_Del	DEL	ENST00000248450.4	37	c.44delC	CCDS33378.1																																																																																				0.617	AAMP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000338756.1	NM_001087		7	1632						7	1632	---	---	---	---
SLC11A1	6556	broad.mit.edu	37	2	219252307	219252307	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr2:219252307delT	ENST00000233202.6	+	7	931	c.591delT	c.(589-591)gctfs	p.A197fs	SLC11A1_ENST00000539932.1_Frame_Shift_Del_p.A79fs	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1	197					activation of protein kinase activity (GO:0032147)|antigen processing and presentation of peptide antigen (GO:0048002)|cadmium ion transmembrane transport (GO:0070574)|cellular cadmium ion homeostasis (GO:0006876)|cellular iron ion homeostasis (GO:0006879)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|defense response to protozoan (GO:0042832)|divalent metal ion export (GO:0070839)|inflammatory response (GO:0006954)|interaction with host (GO:0051701)|interleukin-2 production (GO:0032623)|interleukin-3 production (GO:0032632)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)|L-arginine import (GO:0043091)|macrophage activation (GO:0042116)|manganese ion transport (GO:0006828)|MHC class II biosynthetic process (GO:0045342)|mRNA stabilization (GO:0048255)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of cytokine production (GO:0001818)|nitrite transport (GO:0015707)|phagocytosis (GO:0006909)|phagosome maturation (GO:0090382)|positive regulation of cytokine production (GO:0001819)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of gene expression (GO:0010628)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of phagocytosis (GO:0050766)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein import into nucleus, translocation (GO:0000060)|respiratory burst (GO:0045730)|response to bacterium (GO:0009617)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|T cell cytokine production (GO:0002369)|T cell proliferation involved in immune response (GO:0002309)|transmembrane transport (GO:0055085)|vacuolar acidification (GO:0007035)|wound healing (GO:0042060)	cell outer membrane (GO:0009279)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosome (GO:0005764)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|tertiary granule membrane (GO:0070821)	manganese ion transmembrane transporter activity (GO:0005384)|metal ion:proton antiporter activity (GO:0051139)|protein homodimerization activity (GO:0042803)|transition metal ion transmembrane transporter activity (GO:0046915)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCTGGAAGCTTTTTTTGGAC	0.448																																						ENST00000233202.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(589-591)gcfs		solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1							305.0	318.0	314.0					2																	219252307		2203	4300	6503	SO:0001589	frameshift_variant	6556				activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity	g.chr2:219252307delT	D38171	CCDS2415.1	2q35	2013-07-18	2013-07-18		ENSG00000018280	ENSG00000018280		"""Solute carriers"""	10907	protein-coding gene	gene with protein product	"""natural resistance-associated macrophage protein 1"""	600266		LSH, NRAMP, NRAMP1		7964458, 7980580	Standard	NM_000578		Approved		uc002vhv.3	P49279	OTTHUMG00000086747	ENST00000233202.6:c.591delT	2.37:g.219252307delT	ENSP00000233202:p.Ala197fs					SLC11A1_ENST00000539932.1_Frame_Shift_Del_p.A79fs	p.A197fs	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	7	931	+		Renal(207;0.0474)	197					C0H5Y3	Frame_Shift_Del	DEL	ENST00000233202.6	37	c.591delT	CCDS2415.1																																																																																				0.448	SLC11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195076.2	NM_000578		8	1898						8	1898	---	---	---	---
IRS1	3667	broad.mit.edu	37	2	227660808	227660810	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr2:227660808_227660810delGCT	ENST00000305123.5	-	1	3665_3667	c.2645_2647delAGC	c.(2644-2649)cagccc>ccc	p.Q882del	IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	882	Poly-Gln.				cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		TGCAGCAAGGgctgctgctgctg	0.626																																						ENST00000305123.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69						c.(2644-2649)ccc>c		insulin receptor substrate 1																																				SO:0001651	inframe_deletion	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227660808_227660810delGCT		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"""Pleckstrin homology (PH) domain containing"""	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.2645_2647delAGC	2.37:g.227660817_227660819delGCT	ENSP00000304895:p.Gln882del						p.QP882del	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	1	3665_3667	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	882			Poly-Gln.			In_Frame_Del	DEL	ENST00000305123.5	37	c.2645_2647delAGC	CCDS2463.1																																																																																				0.626	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		7	294						7	294	---	---	---	---
TMF1	7110	broad.mit.edu	37	3	69082709	69082710	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr3:69082709_69082710delAG	ENST00000398559.2	-	10	2606_2607	c.2390_2391delCT	c.(2389-2391)tctfs	p.S797fs	CTD-2013N24.2_ENST00000596274.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000599467.1_RNA|TMF1_ENST00000543976.1_Frame_Shift_Del_p.S800fs|CTD-2013N24.2_ENST00000597366.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000601511.1_RNA			P82094	TMF1_HUMAN	TATA element modulatory factor 1	797					acrosome assembly (GO:0001675)|cellular response to organic cyclic compound (GO:0071407)|defense response to bacterium (GO:0042742)|Leydig cell differentiation (GO:0033327)|luteinizing hormone secretion (GO:0032275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|positive regulation of cytokine production (GO:0001819)|positive regulation of testosterone secretion (GO:2000845)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of transcription, DNA-templated (GO:0006355)|sperm motility (GO:0030317)|spermatid nucleus differentiation (GO:0007289)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription cofactor activity (GO:0003712)			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		CAAGCCTATCAGAAAGATTCTT	0.366																																						ENST00000543976.1																			0				cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(2398-2400)tfs		TATA element modulatory factor 1																																				SO:0001589	frameshift_variant	7110				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity	g.chr3:69082709_69082710delAG		CCDS43105.1	3p21-p12	2009-02-11			ENSG00000144747	ENSG00000144747			11870	protein-coding gene	gene with protein product		601126				1409643	Standard	NM_007114		Approved	ARA160, TMF	uc003dnn.3	P82094	OTTHUMG00000158771	ENST00000398559.2:c.2390_2391delCT	3.37:g.69082709_69082710delAG	ENSP00000381567:p.Ser797fs					CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|TMF1_ENST00000398559.2_Frame_Shift_Del_p.S797fs|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000599467.1_RNA|CTD-2013N24.2_ENST00000601511.1_RNA	p.S800fs	NM_007114.2	NP_009045.2	P82094	TMF1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)	10	2645_2646	-		Lung NSC(201;0.0193)|Prostate(884;0.174)	797					B7ZLJ2|Q17R87|Q59GK0	Frame_Shift_Del	DEL	ENST00000398559.2	37	c.2399_2400delCT	CCDS43105.1																																																																																				0.366	TMF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352106.1	NM_007114		42	334						42	334	---	---	---	---
BBX	56987	broad.mit.edu	37	3	107497243	107497244	+	Frame_Shift_Ins	INS	-	-	A			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr3:107497243_107497244insA	ENST00000325805.8	+	13	2367_2368	c.2080_2081insA	c.(2080-2082)gaafs	p.E694fs	BBX_ENST00000415149.2_Frame_Shift_Ins_p.E694fs|BBX_ENST00000473542.1_3'UTR|BBX_ENST00000406780.1_Frame_Shift_Ins_p.E694fs|BBX_ENST00000402543.1_Frame_Shift_Ins_p.E694fs|BBX_ENST00000416476.2_Frame_Shift_Ins_p.K358fs			Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	694	Lys-rich.				bone development (GO:0060348)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			TGAAGAATTTGAAAAAAAATTC	0.381																																						ENST00000415149.2																			0				breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49						c.(2080-2082)aaafs		bobby sox homolog (Drosophila)																																				SO:0001589	frameshift_variant	56987				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr3:107497243_107497244insA	AF168718	CCDS2950.1, CCDS46881.1, CCDS63712.1	3q13.1	2008-07-18			ENSG00000114439	ENSG00000114439			14422	protein-coding gene	gene with protein product	"""x 001 protein"""					11680820	Standard	NM_001142568		Approved	MDS001, HSPC339, HBP2	uc010hpr.4	Q8WY36	OTTHUMG00000150360	ENST00000325805.8:c.2088dupA	3.37:g.107497251_107497251dupA	ENSP00000319974:p.Glu694fs					BBX_ENST00000402543.1_Frame_Shift_Ins_p.K694fs|BBX_ENST00000473542.1_3'UTR|BBX_ENST00000406780.1_Frame_Shift_Ins_p.K694fs|BBX_ENST00000325805.8_Frame_Shift_Ins_p.K694fs|BBX_ENST00000416476.2_Frame_Shift_Ins_p.LK357fs	p.K694fs	NM_001142568.1|NM_020235.5	NP_001136040.1|NP_064620.2	Q8WY36	BBX_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.112)		13	2407_2408	+			694			Lys-rich.		A2RRM7|Q2TAJ1|Q7L3J8|Q7LBY8|Q8NDB0|Q8WY35|Q9H0J6	Frame_Shift_Ins	INS	ENST00000325805.8	37	c.2080_2081insA	CCDS46881.1																																																																																				0.381	BBX-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317820.1	NM_020235		7	515						7	515	---	---	---	---
CRIPAK	285464	broad.mit.edu	37	4	1388467	1388468	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr4:1388467_1388468delCA	ENST00000324803.4	+	1	3128_3129	c.168_169delCA	c.(166-171)ctcacafs	p.T57fs		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	57					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CCCGCCTGCTCACACGTGCCCA	0.644																																						ENST00000324803.4																			0				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35						c.(166-171)ctcafs		cysteine-rich PAK1 inhibitor																																				SO:0001589	frameshift_variant	285464				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding	g.chr4:1388467_1388468delCA	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.168_169delCA	4.37:g.1388469_1388470delCA	ENSP00000323978:p.Thr57fs						p.LT56fs	NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0106)		1	3128_3129	+			56					Q8NB03	Frame_Shift_Del	DEL	ENST00000324803.4	37	c.168_169delCA	CCDS3349.1																																																																																				0.644	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		7	1945						7	1945	---	---	---	---
NKX6-1	4825	broad.mit.edu	37	4	85414481	85414483	+	In_Frame_Del	DEL	GCC	GCC	-	rs143458004	byFrequency	TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr4:85414481_85414483delGCC	ENST00000295886.4	-	3	1284_1286	c.1063_1065delGGC	c.(1063-1065)ggcdel	p.G355del	NKX6-1_ENST00000515820.2_In_Frame_Del_p.G81del	NM_006168.2	NP_006159.2	P78426	NKX61_HUMAN	NK6 homeobox 1	355	Involved in DNA-binding. {ECO:0000250}.|Poly-Gly.				cell proliferation (GO:0008283)|cellular response to cytokine stimulus (GO:0071345)|cellular response to peptide hormone stimulus (GO:0071375)|detection of glucose (GO:0051594)|endocrine pancreas development (GO:0031018)|negative regulation of glial cell differentiation (GO:0045686)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte differentiation (GO:0048709)|organ morphogenesis (GO:0009887)|pancreas development (GO:0031016)|positive regulation of glial cell differentiation (GO:0045687)|positive regulation of insulin secretion (GO:0032024)|positive regulation of neuron differentiation (GO:0045666)|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 type B pancreatic cell development (GO:2000078)|regulation of axon extension (GO:0030516)|regulation of neuron migration (GO:2001222)|regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification (GO:0021912)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)|response to drug (GO:0042493)|response to nicotine (GO:0035094)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell maturation (GO:0072560)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	15		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.0013)		GCAGTAGGAGGCCGCCGCCGCCG	0.675																																						ENST00000295886.4																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	15						c.(1063-1065)del		NK6 homeobox 1				24,3,4239		2,0,20,0,3,2108						3.5	1.0			46	32,2,8218		1,0,30,0,2,4093	no	codingComplex	NKX6-1	NM_006168.2		3,0,50,0,5,6201	A1A1,A1A2,A1R,A2A2,A2R,RR		0.412,0.6329,0.4873				56,5,12457				SO:0001651	inframe_deletion	4825				detection of glucose|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|type B pancreatic cell maturation	nucleus		g.chr4:85414481_85414483delGCC	AH007313	CCDS3607.1	4q21.33	2012-03-09	2007-07-09	2002-10-04	ENSG00000163623	ENSG00000163623		"""Homeoboxes / ANTP class : NKL subclass"""	7839	protein-coding gene	gene with protein product		602563	"""NK homeobox (Drosophila), family 6, A"", ""NK6 transcription factor related, locus 1 (Drosophila)"""	NKX6A		9119408	Standard	NM_006168		Approved	Nkx6.1	uc003hpa.1	P78426	OTTHUMG00000130426	ENST00000295886.4:c.1063_1065delGGC	4.37:g.85414490_85414492delGCC	ENSP00000295886:p.Gly355del					NKX6-1_ENST00000515820.2_In_Frame_Del_p.G81del	p.G355del	NM_006168.2	NP_006159.2	P78426	NKX61_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0013)	3	1284_1286	-		Hepatocellular(203;0.114)	355			Involved in DNA-binding (By similarity).|Poly-Gly.			In_Frame_Del	DEL	ENST00000295886.4	37	c.1063_1065delGGC	CCDS3607.1																																																																																				0.675	NKX6-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252814.2	NM_006168		7	221						7	221	---	---	---	---
NAP1L5	266812	broad.mit.edu	37	4	89618431	89618433	+	In_Frame_Del	DEL	CCT	CCT	-	rs372401787		TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr4:89618431_89618433delCCT	ENST00000323061.5	-	1	953_955	c.473_475delAGG	c.(472-477)gaggct>gct	p.E158del	HERC3_ENST00000402738.1_Intron|HERC3_ENST00000543130.1_Intron|HERC3_ENST00000264345.3_Intron	NM_153757.2	NP_715638.1	Q96NT1	NP1L5_HUMAN	nucleosome assembly protein 1-like 5	158	Glu-rich.				nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(123;0.000181)		TCTGCCGCAGcctcctcctcctc	0.626																																						ENST00000323061.5																			0				endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	7						c.(472-477)gct>g		nucleosome assembly protein 1-like 5																																				SO:0001651	inframe_deletion	266812				nucleosome assembly	nucleus	protein binding	g.chr4:89618431_89618433delCCT	NM_153757	CCDS3632.1	4q21-q22	2006-04-12			ENSG00000177432	ENSG00000177432			19968	protein-coding gene	gene with protein product		612203				12383514	Standard	NM_153757		Approved	DRLM	uc003hrx.3	Q96NT1	OTTHUMG00000130950	ENST00000323061.5:c.473_475delAGG	4.37:g.89618440_89618442delCCT	ENSP00000320488:p.Glu158del					HERC3_ENST00000402738.1_Intron|HERC3_ENST00000264345.3_Intron|HERC3_ENST00000543130.1_Intron	p.EA158del	NM_153757.2	NP_715638.1	Q96NT1	NP1L5_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000181)	1	953_955	-			158			Glu-rich.			In_Frame_Del	DEL	ENST00000323061.5	37	c.473_475delAGG	CCDS3632.1																																																																																				0.626	NAP1L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253551.1	NM_153757		7	508						7	508	---	---	---	---
ZNF827	152485	broad.mit.edu	37	4	146823381	146823383	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr4:146823381_146823383delGTG	ENST00000508784.1	-	2	1255_1257	c.1028_1030delCAC	c.(1027-1032)ccacaa>caa	p.P343del	ZNF827_ENST00000513320.1_Intron|ZNF827_ENST00000379448.4_In_Frame_Del_p.P343del			Q17R98	ZN827_HUMAN	zinc finger protein 827	343	Pro-rich.				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(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					TCCAGGGATTgtggtggtggtgg	0.512																																						ENST00000508784.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(1027-1032)caa>c		zinc finger protein 827																																				SO:0001651	inframe_deletion	152485				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:146823381_146823383delGTG	AK091130	CCDS34072.1	4q31.22	2013-01-08			ENSG00000151612	ENSG00000151612		"""Zinc fingers, C2H2-type"""	27193	protein-coding gene	gene with protein product						12477932	Standard	NM_178835		Approved		uc003ikm.3	Q17R98	OTTHUMG00000161362	ENST00000508784.1:c.1028_1030delCAC	4.37:g.146823390_146823392delGTG	ENSP00000421863:p.Pro343del					ZNF827_ENST00000513320.1_Intron|ZNF827_ENST00000379448.4_In_Frame_Del_p.PQ343del	p.PQ343del			Q17R98	ZN827_HUMAN			2	1255_1257	-	all_hematologic(180;0.151)		343			Pro-rich.		B7ZL52|Q7Z4S7|Q8N279	In_Frame_Del	DEL	ENST00000508784.1	37	c.1028_1030delCAC																																																																																					0.512	ZNF827-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000364654.2	NM_178835		7	180						7	180	---	---	---	---
ZFR	51663	broad.mit.edu	37	5	32419951	32419953	+	In_Frame_Del	DEL	GGT	GGT	-	rs376016449		TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr5:32419951_32419953delGGT	ENST00000265069.8	-	3	495_497	c.393_395delACC	c.(391-396)ccaccc>ccc	p.131_132PP>P		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	131	Ala-rich.				multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		AGTAGCTGGGGGTGGTGGTGGTG	0.483																																						ENST00000265069.8																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32						c.(391-396)ccc>cc		zinc finger RNA binding protein																																				SO:0001651	inframe_deletion	51663				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding	g.chr5:32419951_32419953delGGT	AF100742	CCDS34139.1	5p15.2	2014-03-03			ENSG00000056097	ENSG00000056097			17277	protein-coding gene	gene with protein product		615635				11574164, 24482476	Standard	NM_016107		Approved	ZFR1, SPG71	uc003jhr.1	Q96KR1	OTTHUMG00000161979	ENST00000265069.8:c.393_395delACC	5.37:g.32419960_32419962delGGT	ENSP00000265069:p.Pro133del						p.PP131del	NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN		STAD - Stomach adenocarcinoma(35;0.19)	3	495_497	-			131			Ala-rich.		B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	In_Frame_Del	DEL	ENST00000265069.8	37	c.393_395delACC	CCDS34139.1																																																																																				0.483	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366586.1			11	721						11	721	---	---	---	---
RAPGEF6	51735	broad.mit.edu	37	5	130815368	130815369	+	Frame_Shift_Ins	INS	-	-	T			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr5:130815368_130815369insT	ENST00000509018.1	-	16	2123_2124	c.1918_1919insA	c.(1918-1920)agtfs	p.S640fs	RAPGEF6_ENST00000296859.6_Frame_Shift_Ins_p.S640fs|CTC-432M15.3_ENST00000514667.1_Frame_Shift_Ins_p.S690fs|RAPGEF6_ENST00000510071.1_Frame_Shift_Ins_p.S640fs|RAPGEF6_ENST00000307984.5_Frame_Shift_Ins_p.S640fs|RAPGEF6_ENST00000507093.1_Frame_Shift_Ins_p.S640fs|RAPGEF6_ENST00000512052.1_Frame_Shift_Ins_p.S355fs|RAPGEF6_ENST00000308008.6_Frame_Shift_Ins_p.S640fs	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	640					positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		ATGGCGATTACTTTTTTTTTCA	0.366																																					Melanoma(168;435 1955 13113 13877 23213)	ENST00000509018.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31						c.(1918-1920)taafs		Rap guanine nucleotide exchange factor (GEF) 6																																				SO:0001589	frameshift_variant	51735				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding	g.chr5:130815368_130815369insT	AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 2"""	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.1919dupA	5.37:g.130815377_130815377dupT	ENSP00000421684:p.Ser640fs					FNIP1_ENST00000514667.1_Frame_Shift_Ins_p.*690fs|RAPGEF6_ENST00000296859.6_Frame_Shift_Ins_p.*640fs|RAPGEF6_ENST00000512052.1_Frame_Shift_Ins_p.*355fs|RAPGEF6_ENST00000510071.1_Frame_Shift_Ins_p.*640fs|RAPGEF6_ENST00000308008.6_Frame_Shift_Ins_p.*640fs|RAPGEF6_ENST00000507093.1_Frame_Shift_Ins_p.*640fs|RAPGEF6_ENST00000307984.5_Frame_Shift_Ins_p.*640fs	p.*640fs	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)	16	2123_2124	-			640					A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Frame_Shift_Ins	INS	ENST00000509018.1	37	c.1918_1919insA	CCDS34225.1																																																																																				0.366	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340		7	631						7	631	---	---	---	---
SYNGAP1	8831	broad.mit.edu	37	6	33411201	33411203	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr6:33411201_33411203delCAC	ENST00000418600.2	+	15	2973_2975	c.2872_2874delCAC	c.(2872-2874)cacdel	p.H966del	SYNGAP1_ENST00000293748.5_In_Frame_Del_p.H966del|SYNGAP1_ENST00000428982.2_In_Frame_Del_p.H907del|SYNGAP1_ENST00000496374.1_3'UTR	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	966					dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						TTCCTCccatcaccaccaccacc	0.645																																						ENST00000418600.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						c.(2872-2874)del		synaptic Ras GTPase activating protein 1																																				SO:0001651	inframe_deletion	8831				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding	g.chr6:33411201_33411203delCAC	AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"""synaptic Ras GTPase activating protein 1 homolog (rat)"""			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.2872_2874delCAC	6.37:g.33411210_33411212delCAC	ENSP00000403636:p.His966del					SYNGAP1_ENST00000293748.5_In_Frame_Del_p.H966del|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000428982.2_In_Frame_Del_p.H907del	p.H966del	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN			15	2973_2975	+			966					A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	In_Frame_Del	DEL	ENST00000418600.2	37	c.2872_2874delCAC	CCDS34434.2																																																																																				0.645	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4	XM_166407		9	600						9	600	---	---	---	---
CCT6P3	643180	broad.mit.edu	37	7	64528813	64528814	+	RNA	INS	-	-	T			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr7:64528813_64528814insT	ENST00000426828.1	+	0	621				SNORA15_ENST00000384334.1_RNA|SNORA22_ENST00000384614.1_RNA	NR_033416.1				chaperonin containing TCP1, subunit 6 (zeta) pseudogene 3																		CTTTCTGTAACTTTTTTTTTTT	0.317																																						ENST00000426828.1																			0																																																			0							g.chr7:64528813_64528814insT			7q11.21	2010-06-29			ENSG00000234585	ENSG00000234585			35137	pseudogene	pseudogene							Standard	NR_033416		Approved		uc010kzt.1		OTTHUMG00000156630		7.37:g.64528824_64528824dupT								NR_033416.1						0	621	+									RNA	INS	ENST00000426828.1	37																																																																																						0.317	CCT6P3-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000344862.1			7	54						7	54	---	---	---	---
PRSS3P2	154754	broad.mit.edu	37	7	142481923	142481925	+	RNA	DEL	CAA	CAA	-	rs201697815		TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr7:142481923_142481925delCAA	ENST00000603901.1	+	0	591					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										GTGATTAGACCAACCCTTCCCAT	0.537																																						ENST00000603901.1																			0																																																			0							g.chr7:142481923_142481925delCAA			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142481923_142481925delCAA								NR_001296.3						0	591	+									RNA	DEL	ENST00000603901.1	37																																																																																						0.537	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		13	171						13	171	---	---	---	---
LOC101927914	101927914	broad.mit.edu	37	7	157280615	157280615	+	lincRNA	DEL	A	A	-	rs370515085	byFrequency	TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr7:157280615delA	ENST00000444158.1	+	0	2547																											ggcacacgggagagccgggga	0.761													A|A|-|deletion	259	0.0517173	0.0083	0.1037	5008	,	,		11059	0.0417		0.0815	False		,,,				2504	0.0532					ENST00000444158.1																			0																																																			0							g.chr7:157280615delA																													7.37:g.157280615delA														0	2547	+									RNA	DEL	ENST00000444158.1	37																																																																																						0.761	AC006372.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000327102.1			5	4						5	4	---	---	---	---
SGK223	157285	broad.mit.edu	37	8	8234868	8234869	+	In_Frame_Ins	INS	-	-	GCCGCT	rs59372311|rs150979349	byFrequency	TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr8:8234868_8234869insGCCGCT	ENST00000520004.1	-	3	1314_1315	c.1050_1051insAGCGGC	c.(1048-1053)ggcgcc>ggcAGCGGCgcc	p.349_350insGS	SGK223_ENST00000330777.4_In_Frame_Ins_p.349_350insGS			Q86YV5	SG223_HUMAN		349							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.G350_A351insSG(1)|p.G350_S351insSG(1)									GGGCTACTGGCGCCGCTGCCGC	0.653														2980	0.595048	0.7254	0.4942	5008	,	,		15838	0.629		0.3827	False		,,,				2504	0.6738				GBM(34;731 755 10259 33573 33867)	ENST00000520004.1																			2	Insertion - In frame(2)	p.G350_A351insSG(1)|p.G350_S351insSG(1)	breast(2)								c.(1048-1053)ggccag>ggAGCGGCccag																																						SO:0001652	inframe_insertion	0						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:8234868_8234869insGCCGCT																												ENST00000520004.1:c.1045_1050dupAGCGGC	8.37:g.8234869_8234874dupGCCGCT	ENSP00000428054:p.Gly348_Ser349dup					SGK223_ENST00000330777.4_In_Frame_Ins_p.350_351GQ>GAAQ	p.350_351GQ>GAAQ			Q86YV5	SG223_HUMAN			3	1314_1315	-			350					Q8N3N5	In_Frame_Ins	INS	ENST00000520004.1	37	c.1050_1051insAGCGGC	CCDS43706.1																																																																																				0.653	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1			29	52						29	52	---	---	---	---
ESRP1	54845	broad.mit.edu	37	8	95686610	95686611	+	Frame_Shift_Ins	INS	-	-	A			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr8:95686610_95686611insA	ENST00000433389.2	+	12	1717_1718	c.1527_1528insA	c.(1528-1530)aaafs	p.K510fs	ESRP1_ENST00000358397.5_Frame_Shift_Ins_p.K510fs|ESRP1_ENST00000423620.2_Frame_Shift_Ins_p.K510fs|ESRP1_ENST00000454170.2_Frame_Shift_Ins_p.K510fs	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	510	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)	p.N512fs*8(2)	ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						AGAAGTGTCATAAAAAAAACAT	0.436																																						ENST00000433389.2																		ESRP1/RAF1(4)	2	Insertion - Frameshift(2)	p.N512fs*8(2)	large_intestine(2)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						c.(1525-1530)caaaaafs		epithelial splicing regulatory protein 1																																				SO:0001589	frameshift_variant	54845				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding	g.chr8:95686610_95686611insA	AK000178	CCDS47895.1, CCDS47896.1, CCDS47897.1, CCDS47898.1	8q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000104413	ENSG00000104413		"""RNA binding motif (RRM) containing"""	25966	protein-coding gene	gene with protein product		612959	"""RNA binding motif protein 35A"""	RBM35A		12477932	Standard	NM_017697		Approved	FLJ20171	uc003ygq.4	Q6NXG1	OTTHUMG00000164587	ENST00000433389.2:c.1535dupA	8.37:g.95686618_95686618dupA	ENSP00000405738:p.Lys510fs					ESRP1_ENST00000358397.5_Frame_Shift_Ins_p.QK509fs|ESRP1_ENST00000423620.2_Frame_Shift_Ins_p.QK509fs|ESRP1_ENST00000454170.2_Frame_Shift_Ins_p.QK509fs	p.QK509fs	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN			12	1717_1718	+			509			RRM 3.		A6NHA8|A8MPX1|E9PB47|Q2M2B0|Q499G3|Q6PJ86|Q9NXL8	Frame_Shift_Ins	INS	ENST00000433389.2	37	c.1527_1528insA	CCDS47897.1																																																																																				0.436	ESRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379326.1	NM_017697		8	416						8	416	---	---	---	---
DPYS	1807	broad.mit.edu	37	8	105440214	105440214	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr8:105440214delT	ENST00000351513.2	-	6	1218	c.1086delA	c.(1084-1086)aaafs	p.K362fs	AP003471.2_ENST00000410226.1_RNA	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	362					beta-alanine metabolic process (GO:0019482)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|uracil catabolic process (GO:0006212)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|dihydropyrimidinase activity (GO:0004157)|thymine binding (GO:0002059)|uracil binding (GO:0002058)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CCACCACGCCTTTTTCCCATA	0.478																																						ENST00000351513.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1084-1086)aafs		dihydropyrimidinase							179.0	176.0	177.0					8																	105440214		2203	4300	6503	SO:0001589	frameshift_variant	1807				protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding	g.chr8:105440214delT	D78011	CCDS6302.1	8q22	2004-01-22			ENSG00000147647	ENSG00000147647			3013	protein-coding gene	gene with protein product		613326				8973361	Standard	NM_001385		Approved	DHPase	uc003yly.4	Q14117	OTTHUMG00000164891	ENST00000351513.2:c.1086delA	8.37:g.105440214delT	ENSP00000276651:p.Lys362fs						p.K362fs	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)		6	1218	-			362						Frame_Shift_Del	DEL	ENST00000351513.2	37	c.1086delA	CCDS6302.1																																																																																				0.478	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380814.1	NM_001385		8	1113						8	1113	---	---	---	---
NFIL3	4783	broad.mit.edu	37	9	94172779	94172779	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr9:94172779delT	ENST00000297689.3	-	2	632	c.238delA	c.(238-240)aggfs	p.R81fs		NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	81	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				cellular response to interleukin-4 (GO:0071353)|circadian rhythm (GO:0007623)|immune response (GO:0006955)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						TTTTTCCGCCTTTTTTCCCAA	0.423																																					Esophageal Squamous(152;732 1832 10053 26981 51762)	ENST00000297689.3																			0				endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						c.(238-240)ggfs		nuclear factor, interleukin 3 regulated							214.0	216.0	215.0					9																	94172779		2203	4300	6503	SO:0001589	frameshift_variant	4783				circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr9:94172779delT	X64318	CCDS6690.1	9q22	2013-01-10			ENSG00000165030	ENSG00000165030		"""basic leucine zipper proteins"""	7787	protein-coding gene	gene with protein product		605327		IL3BP1		7565758, 1620116	Standard	NM_005384		Approved	E4BP4, NFIL3A, NF-IL3A	uc004arh.3	Q16649	OTTHUMG00000020209	ENST00000297689.3:c.238delA	9.37:g.94172779delT	ENSP00000297689:p.Arg81fs						p.R81fs	NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN			2	632	-			81					B2R9Y8|Q14211|Q6FGQ8|Q96HS0	Frame_Shift_Del	DEL	ENST00000297689.3	37	c.238delA	CCDS6690.1																																																																																				0.423	NFIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053038.2	NM_005384		8	1087						8	1087	---	---	---	---
SEC61B	10952	broad.mit.edu	37	9	101992661	101992668	+	Frame_Shift_Del	DEL	TTCTGTAT	TTCTGTAT	-	rs1804433		TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr9:101992661_101992668delTTCTGTAT	ENST00000223641.4	+	4	309_316	c.246_253delTTCTGTAT	c.(244-255)gcttctgtatttfs	p.SVF83fs	SEC61B_ENST00000498603.1_Frame_Shift_Del_p.SVF29fs	NM_006808.2	NP_006799.1	P60468	SC61B_HUMAN	Sec61 beta subunit	83					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|gene expression (GO:0010467)|protein import into nucleus, translocation (GO:0000060)|retrograde protein transport, ER to cytosol (GO:0030970)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum Sec complex (GO:0031205)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	epidermal growth factor binding (GO:0048408)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)			kidney(1)|large_intestine(1)	2		Acute lymphoblastic leukemia(62;0.0559)				TGTTCATCGCTTCTGTATTTATGTTGCA	0.38																																						ENST00000498603.1																			0				kidney(1)|large_intestine(1)	2						c.(82-93)gcttfs		Sec61 beta subunit																																				SO:0001589	frameshift_variant	10952				ER-associated protein catabolic process|protein import into nucleus, translocation|retrograde protein transport, ER to cytosol|transmembrane transport	endoplasmic reticulum Sec complex|integral to membrane	epidermal growth factor binding	g.chr9:101992661_101992668delTTCTGTAT	L25085	CCDS6741.1	9q22.32-q31.3	2009-03-19			ENSG00000106803	ENSG00000106803			16993	protein-coding gene	gene with protein product		609214				8107851, 10212142	Standard	NM_006808		Approved		uc004azh.3	P60468	OTTHUMG00000020354	ENST00000223641.4:c.246_253delTTCTGTAT	9.37:g.101992661_101992668delTTCTGTAT	ENSP00000223641:p.Ser83fs					SEC61B_ENST00000223641.4_Frame_Shift_Del_p.ASVF82fs	p.ASVF28fs			P60468	SC61B_HUMAN			4	351_358	+		Acute lymphoblastic leukemia(62;0.0559)	82					P38390|P38391|Q6IBC1	Frame_Shift_Del	DEL	ENST00000223641.4	37	c.84_91delTTCTGTAT	CCDS6741.1																																																																																				0.380	SEC61B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053391.1	NM_006808		52	764						52	764	---	---	---	---
GPRIN2	9721	broad.mit.edu	37	10	46999606	46999607	+	Frame_Shift_Ins	INS	-	-	GA	rs370294797|rs374420863		TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr10:46999606_46999607insGA	ENST00000374317.1	+	3	999_1000	c.726_727insGA	c.(727-729)gctfs	p.A243fs	GPRIN2_ENST00000374314.4_Frame_Shift_Ins_p.A243fs	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	243										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						GGGAGGTGAGGGCTGGTGGCTG	0.634																																						ENST00000374314.4																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						c.(724-729)agctggfs		G protein regulated inducer of neurite outgrowth 2																																				SO:0001589	frameshift_variant	9721							g.chr10:46999606_46999607insGA	BC011672	CCDS73101.1	10q11.22	2006-08-24	2006-08-24	2006-08-24	ENSG00000204175	ENSG00000204175			23730	protein-coding gene	gene with protein product		611240	"""KIAA0514"""	KIAA0514		9628581	Standard	NM_014696		Approved	MGC15171	uc001jec.3	O60269	OTTHUMG00000018107	Exception_encountered	10.37:g.46999606_46999607insGA	ENSP00000363436:p.Ala243fs					GPRIN2_ENST00000374317.1_Frame_Shift_Ins_p.SW242fs	p.SW242fs			O60269	GRIN2_HUMAN			1	1681_1682	+			242	VR -> MREVG (in Ref. 1; BAA25440 and 3; AAH11672).	R -> G (in dbSNP:rs3127683).			Q5SVF0	Frame_Shift_Ins	INS	ENST00000374317.1	37	c.726_727insGA	CCDS31192.1																																																																																				0.634	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047836.1	NM_014696		11	401						11	401	---	---	---	---
NUP98	4928	broad.mit.edu	37	11	3720389	3720389	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr11:3720389delT	ENST00000324932.7	-	25	4352	c.3932delA	c.(3931-3933)aacfs	p.N1311fs	NUP98_ENST00000488828.1_5'Flank|NUP98_ENST00000355260.3_Frame_Shift_Del_p.N1311fs|NUP98_ENST00000359171.4_Frame_Shift_Del_p.N1311fs	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1328					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		CACAGGGCTGTTTTTTTGGGT	0.512			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML																																	ENST00000324932.7				Dom	yes		11	11p15	4928	T	nucleoporin 98kDa			L	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""		AML		0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(3931-3933)acfs		nucleoporin 98kDa							176.0	183.0	180.0					11																	3720389		2201	4298	6499	SO:0001589	frameshift_variant	4928				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity	g.chr11:3720389delT	AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"""nucleoporin 98kD"""			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.3932delA	11.37:g.3720389delT	ENSP00000316032:p.Asn1311fs					NUP98_ENST00000359171.4_Frame_Shift_Del_p.N1311fs|NUP98_ENST00000355260.3_Frame_Shift_Del_p.N1311fs	p.N1311fs	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)	25	4352	-		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	1328					Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Frame_Shift_Del	DEL	ENST00000324932.7	37	c.3932delA	CCDS7746.1																																																																																				0.512	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3	NM_016320		9	1204						9	1204	---	---	---	---
SPON1	10418	broad.mit.edu	37	11	14276276	14276277	+	RNA	DEL	GT	GT	-	rs144833103		TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr11:14276276_14276277delGT	ENST00000310358.7	+	0	1627							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion (GO:0007155)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		GACCTATGAGGTGTGTGTGTGT	0.594																																						ENST00000310358.7																			0				NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21								spondin 1, extracellular matrix protein				1,106,4101		0,0,1,3,100,2000						5.7	1.0		dbSNP_134	77	4,167,8025		0,0,4,1,165,3928	no	splice-5	SPON1	NM_006108.3		0,0,5,4,265,5928	A1A1,A1A2,A1R,A2A2,A2R,RR		2.0864,2.5428,2.2412				5,273,12126						10418				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding	g.chr11:14276276_14276277delGT	AB018305	CCDS73262.1	11p15.2	2014-05-06	2004-03-05		ENSG00000152268	ENSG00000262655			11252	protein-coding gene	gene with protein product		604989	"""spondin 1, (f-spondin) extracellular matrix protein"""			9872452	Standard	NM_006108		Approved	KIAA0762, f-spondin	uc001mle.3	Q9HCB6	OTTHUMG00000181576		11.37:g.14276286_14276287delGT										Q9HCB6	SPON1_HUMAN		Epithelial(150;0.00898)	0	1627	+								A8K6W5|O94862|Q8NCD7|Q8WUR5	RNA	DEL	ENST00000310358.7	37																																																																																						0.594	SPON1-201	KNOWN	basic	processed_transcript	processed_transcript		NM_145584		7	271						7	271	---	---	---	---
PAMR1	25891	broad.mit.edu	37	11	35513670	35513670	+	Frame_Shift_Del	DEL	C	C	-			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr11:35513670delC	ENST00000378880.2	-	3	747	c.302delG	c.(301-303)ggtfs	p.G101fs	PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000378878.3_Frame_Shift_Del_p.G101fs|PAMR1_ENST00000532848.1_Frame_Shift_Del_p.G61fs|PAMR1_ENST00000278360.3_Frame_Shift_Del_p.G101fs	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	101						extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						ATCCAAGGTACCCCCCCATGA	0.517																																						ENST00000378880.2																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						c.(301-303)gtfs		peptidase domain containing associated with muscle regeneration 1							201.0	193.0	196.0					11																	35513670		2202	4298	6500	SO:0001589	frameshift_variant	25891				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr11:35513670delC		CCDS7898.1, CCDS31460.1, CCDS60759.1, CCDS60760.1	11p13	2009-09-30			ENSG00000149090	ENSG00000149090			24554	protein-coding gene	gene with protein product	"""regeneration-associated muscle protease"""					15111323	Standard	NM_001282675		Approved	RAMP, DKFZP586H2123	uc001mwf.3	Q6UXH9	OTTHUMG00000166328	ENST00000378880.2:c.302delG	11.37:g.35513670delC	ENSP00000368158:p.Gly101fs					PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000532848.1_Frame_Shift_Del_p.G61fs|PAMR1_ENST00000378878.3_Frame_Shift_Del_p.G101fs|PAMR1_ENST00000278360.3_Frame_Shift_Del_p.G101fs	p.G101fs	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN			3	747	-			101					A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Frame_Shift_Del	DEL	ENST00000378880.2	37	c.302delG	CCDS31460.1																																																																																				0.517	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389177.1	NM_015430		11	1285						11	1285	---	---	---	---
GANAB	23193	broad.mit.edu	37	11	62398507	62398512	+	In_Frame_Del	DEL	AGACTA	AGACTA	-			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr11:62398507_62398512delAGACTA	ENST00000356638.3	-	10	1156_1161	c.1140_1145delTAGTCT	c.(1138-1146)gctagtctc>gcc	p.SL381del	GANAB_ENST00000540933.1_In_Frame_Del_p.SL284del|GANAB_ENST00000346178.4_In_Frame_Del_p.SL403del|GANAB_ENST00000534779.1_In_Frame_Del_p.SL289del|GANAB_ENST00000534422.1_5'Flank	NM_198334.1	NP_938148.1	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	381					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|glucosidase II complex (GO:0017177)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|glucan 1,3-alpha-glucosidase activity (GO:0033919)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35					Miglitol(DB00491)	TGTACCTGTGAGACTAGCATATTGCC	0.495																																					Melanoma(23;1005 1074 15747 18937)	ENST00000346178.4																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						c.(1204-1212)gcc>gc		glucosidase, alpha; neutral AB																																				SO:0001651	inframe_deletion	23193				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding	g.chr11:62398507_62398512delAGACTA	AF144074	CCDS8026.1, CCDS41656.1, CCDS60817.1, CCDS60818.1	11q12.3	2012-10-02			ENSG00000089597	ENSG00000089597	3.2.1.20		4138	protein-coding gene	gene with protein product		104160				10764838, 6342981	Standard	NM_198335		Approved	GluII, G2AN, KIAA0088	uc001nua.4	Q14697	OTTHUMG00000167696	ENST00000356638.3:c.1140_1145delTAGTCT	11.37:g.62398507_62398512delAGACTA	ENSP00000349053:p.Ser381_Leu382del					GANAB_ENST00000540933.1_In_Frame_Del_p.ASL283del|GANAB_ENST00000356638.3_In_Frame_Del_p.ASL380del|GANAB_ENST00000534779.1_In_Frame_Del_p.ASL288del	p.ASL402del	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	Q14697	GANAB_HUMAN			11	1221_1226	-			380					A6NC20|Q8WTS9|Q9P0X0	In_Frame_Del	DEL	ENST00000356638.3	37	c.1206_1211delTAGTCT	CCDS8026.1																																																																																				0.495	GANAB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395689.1	NM_198334		78	566						78	566	---	---	---	---
TBC1D10C	374403	broad.mit.edu	37	11	67177148	67177149	+	Frame_Shift_Ins	INS	-	-	G			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr11:67177148_67177149insG	ENST00000542590.1	+	9	1278_1279	c.1264_1265insG	c.(1264-1266)cggfs	p.R422fs	TBC1D10C_ENST00000312390.5_Frame_Shift_Ins_p.R422fs|TBC1D10C_ENST00000526387.1_3'UTR			Q8IV04	TB10C_HUMAN	TBC1 domain family, member 10C	422	Interaction with calcineurin.				retrograde transport, endosome to Golgi (GO:0042147)	filopodium membrane (GO:0031527)|membrane (GO:0016020)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GCTCCTGACTCGGGCCCGGGGC	0.698																																						ENST00000312390.5																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16						c.(1264-1266)ggcfs		TBC1 domain family, member 10C				34,3566		0,34,1766						3.0	1.0			10	68,7198		4,60,3569	no	frameshift	TBC1D10C	NM_198517.2		4,94,5335	A1A1,A1R,RR		0.9359,0.9444,0.9387				102,10764				SO:0001589	frameshift_variant	374403					intracellular	Rab GTPase activator activity	g.chr11:67177148_67177149insG	BC035630	CCDS8162.1, CCDS58150.1	11q13.1	2013-07-09			ENSG00000175463	ENSG00000175463			24702	protein-coding gene	gene with protein product		610831				17230191, 20404108	Standard	NM_001256508		Approved	FLJ00332, Carabin, EPI64C	uc001ola.4	Q8IV04	OTTHUMG00000167139	ENST00000542590.1:c.1267dupG	11.37:g.67177151_67177151dupG	ENSP00000443654:p.Arg422fs					TBC1D10C_ENST00000542590.1_Frame_Shift_Ins_p.G422fs|TBC1D10C_ENST00000526387.1_3'UTR	p.G422fs	NM_198517.3	NP_940919.1	Q8IV04	TB10C_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		10	1293_1294	+			422			Interaction with calcineurin.		G3V1D6	Frame_Shift_Ins	INS	ENST00000542590.1	37	c.1264_1265insG	CCDS8162.1																																																																																				0.698	TBC1D10C-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395492.2	NM_198517		7	97						7	97	---	---	---	---
UVRAG	7405	broad.mit.edu	37	11	75694430	75694431	+	Splice_Site	INS	-	-	A	rs369320979		TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr11:75694430_75694431insA	ENST00000356136.3	+	8	940_941		c.e8-1		UVRAG_ENST00000539288.1_5'Flank|UVRAG_ENST00000532130.1_Splice_Site|UVRAG_ENST00000528420.1_Splice_Site|UVRAG_ENST00000531818.1_Splice_Site|UVRAG_ENST00000533454.1_Splice_Site	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated						DNA repair (GO:0006281)|positive regulation of autophagy (GO:0010508)|SNARE complex assembly (GO:0035493)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)				central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						TATTTATTTAGAAAAAAAAAAG	0.302																																						ENST00000356136.3																			0				central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						c.e8-1		UV radiation resistance associated																																				SO:0001630	splice_region_variant	7405				DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding	g.chr11:75694430_75694431insA	X99050, AB012958	CCDS8241.1	11q13	2012-11-15	2012-11-15		ENSG00000198382	ENSG00000198382			12640	protein-coding gene	gene with protein product	"""beclin 1 binding protein"""	602493	"""UV radiation resistance associated gene"""			9169138, 16799551, 18843052	Standard	NM_003369		Approved	VPS38	uc001oxc.3	Q9P2Y5	OTTHUMG00000165319	ENST00000356136.3:c.700-1->A	11.37:g.75694440_75694440dupA						UVRAG_ENST00000531818.1_Splice_Site|UVRAG_ENST00000533454.1_Splice_Site|UVRAG_ENST00000532130.1_Splice_Site|UVRAG_ENST00000528420.1_Splice_Site		NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN			8	940_941	+								B3KTC1|O00392	Splice_Site	INS	ENST00000356136.3	37		CCDS8241.1																																																																																				0.302	UVRAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383430.1	NM_003369	Intron	8	245						8	245	---	---	---	---
C1QTNF5	114902	broad.mit.edu	37	11	119210189	119210190	+	Frame_Shift_Ins	INS	-	-	C	rs369839371		TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr11:119210189_119210190insC	ENST00000528368.1	-	3	814_815	c.583_584insG	c.(583-585)gccfs	p.A195fs	RP11-334E6.10_ENST00000501918.2_RNA|MFRP_ENST00000555262.1_3'UTR|MFRP_ENST00000530681.1_3'UTR|C1QTNF5_ENST00000445041.2_Frame_Shift_Ins_p.A195fs|C1QTNF5_ENST00000525657.1_5'UTR	NM_001278431.1	NP_001265360.1	Q9BXJ0	C1QT5_HUMAN	C1q and tumor necrosis factor related protein 5	195	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.					collagen trimer (GO:0005581)|extracellular vesicular exosome (GO:0070062)				endometrium(1)|lung(2)	3		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		CCTCACCATGGCCCCCCCCGAG	0.589																																						ENST00000445041.2																			0				endometrium(1)|lung(2)	3						c.(583-585)catfs		C1q and tumor necrosis factor related protein 5																																				SO:0001589	frameshift_variant	114902				embryo development	integral to membrane		g.chr11:119210189_119210190insC	AF329841	CCDS8420.1	11q23.3	2013-05-10				ENSG00000223953			14344	protein-coding gene	gene with protein product	"""complement-c1q tumor necrosis factor-related protein 5"", ""complement C1q tumor necrosis factor-related protein 5 precursor variant 3"""	608752				12944416	Standard	NM_015645		Approved	CTRP5, DKFZp586B0621, LORD		Q9BXJ0	OTTHUMG00000166198	ENST00000528368.1:c.584dupG	11.37:g.119210197_119210197dupC	ENSP00000431140:p.Ala195fs					MFRP_ENST00000555262.1_3'UTR|MFRP_ENST00000530681.1_3'UTR|C1QTNF5_ENST00000528368.1_Frame_Shift_Ins_p.H195fs|C1QTNF5_ENST00000525657.1_5'UTR	p.H195fs	NM_001278431.1|NM_015645.3|NM_031433.2	NP_001265360.1|NP_056460.1|NP_113621.1	Q9BY79	MFRP_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)	15	3378_3379	-		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	147			CUB 1.		A6NDD3|B0YJ35|Q335M2|Q8N6P2|Q9UFX4	Frame_Shift_Ins	INS	ENST00000528368.1	37	c.583_584insG	CCDS8420.1																																																																																				0.589	C1QTNF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388354.1	NM_015645		10	544						10	544	---	---	---	---
PRB2	653247	broad.mit.edu	37	12	11546506	11546508	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr12:11546506_11546508delTTG	ENST00000389362.4	-	3	539_541	c.504_506delCAA	c.(502-507)aacaag>aag	p.N168del	PRB1_ENST00000546254.1_Intron|PRB2_ENST00000545829.1_5'Flank	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	168	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].					extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			ACTTCGGGACTTGTTGTCTCCTT	0.596																																						ENST00000389362.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37						c.(502-507)aag>aa		proline-rich protein BstNI subfamily 2																																				SO:0001651	inframe_deletion	653247							g.chr12:11546506_11546508delTTG	K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.504_506delCAA	12.37:g.11546509_11546511delTTG	ENSP00000374013:p.Asn168del					PRB1_ENST00000546254.1_Intron	p.NK168del	NM_006248.3	NP_006239.3			OV - Ovarian serous cystadenocarcinoma(49;0.185)		3	539_541	-		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)						O00599|P02811|P04281	In_Frame_Del	DEL	ENST00000389362.4	37	c.504_506delCAA	CCDS41757.2																																																																																				0.596	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248		7	959						7	959	---	---	---	---
OVOS2	144203	broad.mit.edu	37	12	31270080	31270081	+	RNA	INS	-	-	AAA	rs397963443|rs59046327	byFrequency	TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr12:31270080_31270081insAAA	ENST00000542490.1	-	0	52																				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1)	41						CGTTAAACTGGATCTCACTGGA	0.505														2879	0.57488	0.6324	0.5231	5008	,	,		14258	0.8194		0.3777	False		,,,				2504	0.4847					ENST00000542490.1																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1)	41												1674,1746		681,312,717						1.6	0.3		dbSNP_129	59	2013,5685		627,759,2463	no	coding	OVOS2	XM_002343151.2		1308,1071,3180	A1A1,A1R,RR		26.1496,48.9474,33.1624				3687,7431						0							g.chr12:31270080_31270081insAAA																													12.37:g.31270080_31270081insAAA														0	52	-									RNA	INS	ENST00000542490.1	37																																																																																						0.505	RP11-551L14.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400342.1			15	48						15	48	---	---	---	---
B4GALNT1	2583	broad.mit.edu	37	12	58025102	58025103	+	Frame_Shift_Ins	INS	-	-	C			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr12:58025102_58025103insC	ENST00000341156.4	-	3	847_848	c.263_264insG	c.(262-264)ggcfs	p.G88fs	B4GALNT1_ENST00000418555.2_Intron|B4GALNT1_ENST00000449184.3_Frame_Shift_Ins_p.G88fs|B4GALNT1_ENST00000550943.1_Intron|B4GALNT1_ENST00000550764.1_Frame_Shift_Ins_p.G88fs|B4GALNT1_ENST00000552350.1_Frame_Shift_Ins_p.G88fs	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	88					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|ganglioside biosynthetic process (GO:0001574)|glycosphingolipid metabolic process (GO:0006687)|lipid glycosylation (GO:0030259)|lipid storage (GO:0019915)|protein glycosylation (GO:0006486)|spermatogenesis (GO:0007283)	integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|plasma membrane (GO:0005886)	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity (GO:0003947)	p.G88fs*24(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GGAGGGGGAGGCCCCCCCCACT	0.589																																						ENST00000341156.4																			1	Deletion - Frameshift(1)	p.G88fs*24(1)	large_intestine(1)	breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20						c.(262-264)gctfs		beta-1,4-N-acetyl-galactosaminyl transferase 1				32,4228		0,32,2098						1.8	0.0			83	25,8229		0,25,4102	no	frameshift	B4GALNT1	NM_001478.3		0,57,6200	A1A1,A1R,RR		0.3029,0.7512,0.4555				57,12457				SO:0001589	frameshift_variant	2583				lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity	g.chr12:58025102_58025103insC	M83651	CCDS8950.1, CCDS61170.1, CCDS61171.1	12q13.3	2013-09-11	2006-01-08	2006-01-08	ENSG00000135454	ENSG00000135454	2.4.1.92	"""Beta 4-glycosyltransferases"", ""Glycosyltransferase family 2 domain containing"""	4117	protein-coding gene	gene with protein product	"""GD2 synthase, GM2 synthase"""	601873	"""UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase (GalNAc-T)"", ""UDP-Gal:betaGlcNAc beta-1,4-N-acetylgalactosaminyltransferase transferase 1"", ""spastic paraplegia 26"""	GALGT, SPG26		1601877, 23746551	Standard	NM_001478		Approved	beta1-4GalNAc-T	uc001spg.2	Q00973	OTTHUMG00000170190	ENST00000341156.4:c.264dupG	12.37:g.58025110_58025110dupC	ENSP00000341562:p.Gly88fs					B4GALNT1_ENST00000552350.1_Frame_Shift_Ins_p.A88fs|B4GALNT1_ENST00000418555.2_Intron|B4GALNT1_ENST00000449184.3_Frame_Shift_Ins_p.A88fs|B4GALNT1_ENST00000550943.1_Intron|B4GALNT1_ENST00000550764.1_Frame_Shift_Ins_p.A88fs	p.A88fs	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.109)		3	847_848	-	Melanoma(17;0.122)		88					B4DE26|Q8N636	Frame_Shift_Ins	INS	ENST00000341156.4	37	c.263_264insG	CCDS8950.1																																																																																				0.589	B4GALNT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407853.1	NM_001478		8	563						8	563	---	---	---	---
TOX4	9878	broad.mit.edu	37	14	21961060	21961062	+	In_Frame_Del	DEL	GCT	GCT	-	rs571846793		TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr14:21961060_21961062delGCT	ENST00000405508.1	+	8	1561_1563	c.1285_1287delGCT	c.(1285-1287)gctdel	p.A434del	TOX4_ENST00000262709.3_In_Frame_Del_p.A434del|TOX4_ENST00000448790.2_In_Frame_Del_p.A411del			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	434	Gln/Pro-rich.|Poly-Ala.					chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)	p.A429A(1)		large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		GGCAGCAGCAGCTGCTGCTGCTG	0.581																																						ENST00000405508.1																			1	Substitution - coding silent(1)	p.A429A(1)	large_intestine(1)	large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1285-1287)del		TOX high mobility group box family member 4																																				SO:0001651	inframe_deletion	9878					chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding	g.chr14:21961060_21961062delGCT	AB018280	CCDS32043.1	14q11.2	2007-03-20	2007-03-20	2007-03-20	ENSG00000092203	ENSG00000092203			20161	protein-coding gene	gene with protein product		614032	"""chromosome 14 open reading frame 92"", ""KIAA0737"""	C14orf92, KIAA0737			Standard	NM_014828		Approved	LCP1	uc001waz.3	O94842	OTTHUMG00000150278	ENST00000405508.1:c.1285_1287delGCT	14.37:g.21961069_21961071delGCT	ENSP00000385102:p.Ala434del					TOX4_ENST00000262709.3_In_Frame_Del_p.A434del|TOX4_ENST00000448790.2_In_Frame_Del_p.A411del	p.A434del			O94842	TOX4_HUMAN	Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)	8	1561_1563	+	all_cancers(95;0.000465)		434			Gln/Pro-rich.|Poly-Ala.		B4DPY8|B4DSM0|E7EV69	In_Frame_Del	DEL	ENST00000405508.1	37	c.1285_1287delGCT	CCDS32043.1																																																																																				0.581	TOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317287.2	NM_014828		10	867						10	867	---	---	---	---
IL25	64806	broad.mit.edu	37	14	23845057	23845058	+	Frame_Shift_Del	DEL	TG	TG	-	rs569851542		TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr14:23845057_23845058delTG	ENST00000329715.2	+	2	760_761	c.502_503delTG	c.(502-504)tgtfs	p.C168fs	CMTM5_ENST00000359320.3_5'Flank|CMTM5_ENST00000555731.1_5'Flank|CMTM5_ENST00000342473.4_5'Flank|CMTM5_ENST00000339180.4_5'Flank|CMTM5_ENST00000397227.3_5'Flank|CMTM5_ENST00000382809.2_5'Flank|IL25_ENST00000397242.2_Frame_Shift_Del_p.C152fs	NM_022789.3	NP_073626.1	Q9H293	IL25_HUMAN	interleukin 25	168					eosinophil differentiation (GO:0030222)|inflammatory response to antigenic stimulus (GO:0002437)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to fungus (GO:0009620)|response to nematode (GO:0009624)	extracellular space (GO:0005615)	interleukin-17E receptor binding (GO:0030380)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396)		TTCCTTAGCTTGTGTGTGTGTG	0.604																																						ENST00000329715.2																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9						c.(502-504)tfs		interleukin 25																																				SO:0001589	frameshift_variant	0				inflammatory response	extracellular space|membrane	cytokine activity|interleukin-17E receptor binding	g.chr14:23845057_23845058delTG	AF305200	CCDS9597.1, CCDS45086.1	14q11.2	2008-01-07	2006-05-17	2006-05-17	ENSG00000166090	ENSG00000166090		"""Interleukins and interleukin receptors"""	13765	protein-coding gene	gene with protein product		605658	"""interleukin 17E"""	IL17E		11058597, 11754819	Standard	NM_172314		Approved	IL-25, IL-17E	uc001wjq.3	Q9H293	OTTHUMG00000028749	ENST00000329715.2:c.502_503delTG	14.37:g.23845067_23845068delTG	ENSP00000328111:p.Cys168fs					IL25_ENST00000397242.2_Frame_Shift_Del_p.C152fs	p.C168fs	NM_022789.3	NP_073626.1	Q9H293	IL25_HUMAN		GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396)	2	760_761	+	all_cancers(95;2e-05)		168					Q2M3F0|Q8IZV3|Q8WXB0	Frame_Shift_Del	DEL	ENST00000329715.2	37	c.502_503delTG	CCDS9597.1																																																																																				0.604	IL25-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071789.2			8	532						8	532	---	---	---	---
OTX2-AS1	100309464	broad.mit.edu	37	14	57509058	57509064	+	RNA	DEL	TCCAAGC	TCCAAGC	-	rs369895963	byFrequency	TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr14:57509058_57509064delTCCAAGC	ENST00000554725.1	+	0	344									OTX2 antisense RNA 1 (head to head)																		CCAGAAGCCTTCCAAGCTCCAAGCCCT	0.483														289	0.0577077	0.0681	0.0548	5008	,	,		16601	0.003		0.1352	False		,,,				2504	0.0225					ENST00000554725.1																			0																																																			0							g.chr14:57509058_57509064delTCCAAGC	BC041486		14q22.3	2012-10-19	2012-10-17		ENSG00000248550	ENSG00000248550		"""Long non-coding RNAs"", ""-"""	43906	non-coding RNA	RNA, long non-coding			"""OTX2 antisense RNA 1 (non-protein coding)"", ""OTX2 antisense RNA 1"""			15703187	Standard	NR_029385		Approved	OTX2OS1	uc001xcr.3		OTTHUMG00000171304		14.37:g.57509065_57509071delTCCAAGC														0	344	+									RNA	DEL	ENST00000554725.1	37																																																																																						0.483	OTX2-AS1-002	KNOWN	basic	antisense	antisense	OTTHUMT00000412895.1	NR_029385		13	6						13	6	---	---	---	---
ELMSAN1	91748	broad.mit.edu	37	14	74205926	74205928	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr14:74205926_74205928delCTG	ENST00000286523.5	-	2	1566_1568	c.784_786delCAG	c.(784-786)cagdel	p.Q262del	ELMSAN1_ENST00000486739.1_5'Flank|ELMSAN1_ENST00000394071.2_In_Frame_Del_p.Q262del	NM_194278.3	NP_919254.2	Q6PJG2	EMSA1_HUMAN	ELM2 and Myb/SANT-like domain containing 1	262	Gln-rich.|Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										GTAGGgctgcctgctgctgctgc	0.65																																						ENST00000286523.5																			0											c.(784-786)del		ELM2 and Myb/SANT-like domain containing 1																																				SO:0001651	inframe_deletion	91748							g.chr14:74205926_74205928delCTG	BF971739	CCDS9819.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000156030	ENSG00000156030			19853	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 117"", ""chromosome 14 open reading frame 43"""	C14orf117, C14orf43			Standard	NM_194278		Approved	LSR68	uc001xou.3	Q6PJG2	OTTHUMG00000150359	ENST00000286523.5:c.784_786delCAG	14.37:g.74205935_74205937delCTG	ENSP00000286523:p.Gln262del					ELMSAN1_ENST00000394071.2_In_Frame_Del_p.Q262del	p.Q262del	NM_194278.3	NP_919254.2					2	1566_1568	-								Q6PK13|Q6PK59|Q6ZS23	In_Frame_Del	DEL	ENST00000286523.5	37	c.784_786delCAG	CCDS9819.1																																																																																				0.650	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317793.1	NM_194278		7	114						7	114	---	---	---	---
EMC7	56851	broad.mit.edu	37	15	34393991	34393993	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr15:34393991_34393993delAGC	ENST00000256545.4	-	1	156_158	c.48_50delGCT	c.(46-51)ctgcta>cta	p.16_17LL>L	PGBD4_ENST00000397766.2_5'Flank|EMC7_ENST00000532113.1_5'UTR	NM_020154.2	NP_064539.1	Q9NPA0	EMC7_HUMAN	ER membrane protein complex subunit 7	16						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)										ATCCCCCGATAGCAGCAGCAGCA	0.665																																						ENST00000256545.4																			0											c.(46-51)cta>ct		ER membrane protein complex subunit 7																																				SO:0001651	inframe_deletion	56851							g.chr15:34393991_34393993delAGC	AJ245874	CCDS10032.1	15q14	2012-05-30	2012-05-30	2012-05-30	ENSG00000134153	ENSG00000134153			24301	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 24"""	C15orf24		10873569, 22119785	Standard	NM_020154		Approved	C11orf3	uc001zhm.3	Q9NPA0	OTTHUMG00000129367	ENST00000256545.4:c.48_50delGCT	15.37:g.34394000_34394002delAGC	ENSP00000256545:p.Leu17del					EMC7_ENST00000532113.1_5'UTR	p.LL16del	NM_020154.2	NP_064539.1					1	156_158	-								B2RC00|Q96ED5	In_Frame_Del	DEL	ENST00000256545.4	37	c.48_50delGCT	CCDS10032.1																																																																																				0.665	EMC7-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251519.1	NM_020154		8	794						8	794	---	---	---	---
MYO9A	4649	broad.mit.edu	37	15	72190580	72190580	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr15:72190580delA	ENST00000356056.5	-	25	4736	c.4264delT	c.(4264-4266)tatfs	p.Y1422fs	MYO9A_ENST00000566885.1_Frame_Shift_Del_p.Y1042fs|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000424560.1_Frame_Shift_Del_p.Y1422fs|MYO9A_ENST00000444904.1_Frame_Shift_Del_p.Y1403fs|MYO9A_ENST00000564571.1_Frame_Shift_Del_p.Y1422fs	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1422	Tail.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TGGGGGATATAAAAAAAAGTA	0.398																																						ENST00000356056.5																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(4264-4266)atfs		myosin IXA							63.0	64.0	63.0					15																	72190580		2199	4297	6496	SO:0001589	frameshift_variant	4649				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	g.chr15:72190580delA	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.4264delT	15.37:g.72190580delA	ENSP00000348349:p.Tyr1422fs					MYO9A_ENST00000424560.1_Frame_Shift_Del_p.Y1422fs|MYO9A_ENST00000566885.1_Frame_Shift_Del_p.Y1042fs|MYO9A_ENST00000444904.1_Frame_Shift_Del_p.Y1403fs|MYO9A_ENST00000564571.1_Frame_Shift_Del_p.Y1422fs|MYO9A_ENST00000563542.1_5'UTR	p.Y1422fs	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN			25	4736	-			1422			Tail.		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Frame_Shift_Del	DEL	ENST00000356056.5	37	c.4264delT	CCDS10239.1																																																																																				0.398	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		7	320						7	320	---	---	---	---
RP11-420N3.2	0	broad.mit.edu	37	16	5313074	5313076	+	RNA	DEL	GGT	GGT	-	rs542176654		TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr16:5313074_5313076delGGT	ENST00000569895.1	+	0	304				AC074051.1_ENST00000408882.1_RNA																							GCAGggtgacggtggtggtggtg	0.483																																						ENST00000569895.1																			0																																																			0							g.chr16:5313074_5313076delGGT																													16.37:g.5313083_5313085delGGT														0	304	+									RNA	DEL	ENST00000569895.1	37																																																																																						0.483	RP11-420N3.2-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000435404.2			8	159						8	159	---	---	---	---
NPIPA5	100288332	broad.mit.edu	37	16	15457565	15457566	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr16:15457565_15457566delAC	ENST00000360151.4	-	8	1002_1003	c.1003_1004delGT	c.(1003-1005)gtcfs	p.V335fs		NM_001277325.1	NP_001264254.1	E9PKD4	NPIA5_HUMAN	nuclear pore complex interacting protein family, member A5	335	Pro-rich.																GAGTGAGCAGACACACTCGGGA	0.446																																						ENST00000360151.4																			0											c.(1003-1005)cfs		nuclear pore complex interacting protein family, member A5																																				SO:0001589	frameshift_variant	100288332							g.chr16:15457565_15457566delAC		CCDS59264.1	16p13.11	2013-06-11			ENSG00000183793	ENSG00000183793			41980	protein-coding gene	gene with protein product							Standard	NM_001277325		Approved			E9PKD4	OTTHUMG00000166305	ENST00000360151.4:c.1003_1004delGT	16.37:g.15457569_15457570delAC	ENSP00000433597:p.Val335fs						p.V335fs	NM_001277325.1	NP_001264254.1					8	1002_1003	-								Q0P618	Frame_Shift_Del	DEL	ENST00000360151.4	37	c.1003_1004delGT	CCDS59264.1																																																																																				0.446	NPIPA5-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389069.1			12	205						12	205	---	---	---	---
KIAA0430	9665	broad.mit.edu	37	16	15729982	15729984	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr16:15729982_15729984delCCA	ENST00000396368.3	-	3	566_568	c.360_362delTGG	c.(358-363)ggtggc>ggc	p.120_121GG>G	KIAA0430_ENST00000548025.1_In_Frame_Del_p.120_121GG>G|KIAA0430_ENST00000602337.1_In_Frame_Del_p.120_121GG>G|KIAA0430_ENST00000344181.3_5'UTR|KIAA0430_ENST00000551742.1_In_Frame_Del_p.120_121GG>G|KIAA0430_ENST00000540441.2_In_Frame_Del_p.120_121GG>G	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	120	Poly-Gly.				double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						TCCGCTACCGCCACCACCACCAC	0.532																																						ENST00000396368.3																			0				breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						c.(358-363)ggc>gg		KIAA0430																																				SO:0001651	inframe_deletion	9665					peroxisome	nucleotide binding|RNA binding	g.chr16:15729982_15729984delCCA	AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29562	protein-coding gene	gene with protein product	"""limkain b1"", ""protein phosphatase 1, regulatory subunit 34"", ""meiosis arrest female 1"""	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.360_362delTGG	16.37:g.15729991_15729993delCCA	ENSP00000379654:p.Gly122del					KIAA0430_ENST00000602337.1_In_Frame_Del_p.GG120del|KIAA0430_ENST00000551742.1_In_Frame_Del_p.GG120del|KIAA0430_ENST00000540441.2_In_Frame_Del_p.GG120del|KIAA0430_ENST00000548025.1_In_Frame_Del_p.GG120del|KIAA0430_ENST00000344181.3_5'UTR	p.GG120del	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN			3	566_568	-			119			Poly-Gly.		A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	In_Frame_Del	DEL	ENST00000396368.3	37	c.360_362delTGG	CCDS10562.2																																																																																				0.532	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2	NM_014647		8	515						8	515	---	---	---	---
KNOP1	400506	broad.mit.edu	37	16	19722723	19722724	+	Frame_Shift_Ins	INS	-	-	T			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr16:19722723_19722724insT	ENST00000219837.7	-	3	1035_1036	c.957_958insA	c.(955-960)aaaggcfs	p.G320fs	AC002550.5_ENST00000565916.1_RNA|KNOP1_ENST00000568230.1_5'UTR	NM_001012991.2	NP_001013009.2	Q1ED39	KNOP1_HUMAN	lysine-rich nucleolar protein 1	320	Interaction with ZNF106. {ECO:0000250}.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.G320fs*5(1)|p.K319N(1)									TCCATGTTGCCTTTTTTTTCCA	0.564																																						ENST00000219837.7																			2	Substitution - Missense(1)|Insertion - Frameshift(1)	p.G320fs*5(1)|p.K319N(1)	large_intestine(1)|lung(1)								c.(955-960)aagcaafs		lysine-rich nucleolar protein 1																																				SO:0001589	frameshift_variant	400506							g.chr16:19722723_19722724insT	BC047010	CCDS42127.1	16p12.3	2013-03-12	2013-03-12	2013-03-12	ENSG00000103550	ENSG00000103550			34404	protein-coding gene	gene with protein product	"""family with sequence similarity 191, member A"", ""testis-specific gene 118"""		"""chromosome 16 open reading frame 88"""	C16orf88			Standard	NM_001012991		Approved	101F10.1, FAM191A, TSG118	uc002dgq.3	Q1ED39		ENST00000219837.7:c.958dupA	16.37:g.19722731_19722731dupT	ENSP00000219837:p.Gly320fs					KNOP1_ENST00000568230.1_5'UTR|AC002550.5_ENST00000565916.1_RNA	p.Q320fs	NM_001012991.2	NP_001013009.2					3	1035_1036	-								O43328|Q5FWF3	Frame_Shift_Ins	INS	ENST00000219837.7	37	c.957_958insA	CCDS42127.1																																																																																				0.564	KNOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435993.2	NM_001012991		7	395						7	395	---	---	---	---
MYH10	4628	broad.mit.edu	37	17	8409750	8409751	+	Frame_Shift_Ins	INS	-	-	G			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr17:8409750_8409751insG	ENST00000269243.4	-	25	3316_3317	c.3178_3179insC	c.(3178-3180)ctcfs	p.L1060fs	MYH10_ENST00000360416.3_Frame_Shift_Ins_p.L1091fs|MYH10_ENST00000396239.1_Frame_Shift_Ins_p.L1081fs|MYH10_ENST00000379980.4_Frame_Shift_Ins_p.L1076fs	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1060					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						CTCCCCGTCGAGTTTTCTTTTG	0.515																																						ENST00000360416.3																			0				breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						c.(3271-3273)cgafs		myosin, heavy chain 10, non-muscle																																				SO:0001589	frameshift_variant	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:8409750_8409751insG	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.3179dupC	17.37:g.8409751_8409751dupG	ENSP00000269243:p.Leu1060fs					MYH10_ENST00000396239.1_Frame_Shift_Ins_p.R1081fs|MYH10_ENST00000379980.4_Frame_Shift_Ins_p.R1076fs|MYH10_ENST00000269243.4_Frame_Shift_Ins_p.R1060fs	p.R1091fs	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN			27	3409_3410	-			1060					B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Frame_Shift_Ins	INS	ENST00000269243.4	37	c.3271_3272insC	CCDS11144.1																																																																																				0.515	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			8	465						8	465	---	---	---	---
ZNF207	7756	broad.mit.edu	37	17	30677314	30677316	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr17:30677314_30677316delAAG	ENST00000321233.6	+	1	164_166	c.10_12delAAG	c.(10-12)aagdel	p.K7del	ZNF207_ENST00000341711.6_In_Frame_Del_p.K7del|ZNF207_ENST00000394673.2_In_Frame_Del_p.K7del|RP11-227G15.3_ENST00000581915.1_RNA|ZNF207_ENST00000342555.6_5'UTR|MIR632_ENST00000385193.1_RNA|ZNF207_ENST00000394670.4_In_Frame_Del_p.K7del|ZNF207_ENST00000577908.1_In_Frame_Del_p.K7del	NM_003457.3	NP_003448.1	O43670	ZN207_HUMAN	zinc finger protein 207	7	Microtubule-binding region.				attachment of spindle microtubules to kinetochore (GO:0008608)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein stabilization (GO:0050821)|regulation of chromosome segregation (GO:0051983)|regulation of transcription, DNA-templated (GO:0006355)	kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			TATGGGTCGCAAGAAGAAGAAGC	0.542																																						ENST00000394670.4																			0				breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10						c.(10-12)del		zinc finger protein 207																																				SO:0001651	inframe_deletion	7756					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:30677314_30677316delAAG	AF046001	CCDS11271.1, CCDS32614.1, CCDS42294.1	17q11.2	2008-07-10			ENSG00000010244	ENSG00000010244		"""Zinc fingers, C2H2-type"""	12998	protein-coding gene	gene with protein product		603428				9799612	Standard	NM_001098507		Approved		uc002hhj.4	O43670	OTTHUMG00000132810	ENST00000321233.6:c.10_12delAAG	17.37:g.30677323_30677325delAAG	ENSP00000322777:p.Lys7del					ZNF207_ENST00000341711.6_In_Frame_Del_p.K7del|RP11-227G15.3_ENST00000581915.1_RNA|ZNF207_ENST00000342555.6_5'UTR|ZNF207_ENST00000394673.2_In_Frame_Del_p.K7del|ZNF207_ENST00000321233.6_In_Frame_Del_p.K7del|ZNF207_ENST00000577908.1_In_Frame_Del_p.K7del	p.K7del	NM_001098507.1	NP_001091977.1	O43670	ZN207_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.239)		1	179_181	+		Breast(31;0.116)|Ovarian(249;0.182)	7					A8K6Y6|E1P660|E1P661|E1P662|Q53XS9|Q96HW5|Q9BUQ7	In_Frame_Del	DEL	ENST00000321233.6	37	c.10_12delAAG	CCDS11271.1																																																																																				0.542	ZNF207-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256251.2			8	825						8	825	---	---	---	---
SLC16A5	9121	broad.mit.edu	37	17	73094196	73094197	+	Frame_Shift_Ins	INS	-	-	G			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr17:73094196_73094197insG	ENST00000450736.2	+	3	678_679	c.263_264insG	c.(262-267)gtgctgfs	p.L89fs	SLC16A5_ENST00000580123.1_Frame_Shift_Ins_p.L89fs|SLC16A5_ENST00000538213.2_Frame_Shift_Ins_p.L129fs|SLC16A5_ENST00000585293.1_3'UTR|SLC16A5_ENST00000329783.4_Frame_Shift_Ins_p.L89fs			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	89					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	CTGGGGGGCGTGCTGGCCAGCC	0.604																																						ENST00000450736.2																			0				central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22						c.(262-264)gctfs		solute carrier family 16 (monocarboxylate transporter), member 5	Pyruvic acid(DB00119)																																			SO:0001589	frameshift_variant	9121				organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity	g.chr17:73094196_73094197insG	U59299	CCDS11713.1	17q25.1	2013-07-18	2013-07-18		ENSG00000170190	ENSG00000170190		"""Solute carriers"""	10926	protein-coding gene	gene with protein product		603879	"""solute carrier family 16 (monocarboxylic acid transporters), member 5"", ""solute carrier family 16, member 5 (monocarboxylic acid transporter 6)"""			9425115	Standard	NM_004695		Approved	MCT5, MCT6	uc002jmr.4	O15375	OTTHUMG00000179277	ENST00000450736.2:c.264dupG	17.37:g.73094197_73094197dupG	ENSP00000390564:p.Leu89fs					SLC16A5_ENST00000585293.1_3'UTR|SLC16A5_ENST00000580123.1_Frame_Shift_Ins_p.A88fs|SLC16A5_ENST00000329783.4_Frame_Shift_Ins_p.A88fs|SLC16A5_ENST00000538213.2_Frame_Shift_Ins_p.A128fs	p.A88fs			O15375	MOT6_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		3	678_679	+	all_lung(278;0.226)		88					B4E288	Frame_Shift_Ins	INS	ENST00000450736.2	37	c.263_264insG	CCDS11713.1																																																																																				0.604	SLC16A5-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445547.1	NM_004695		12	513						12	513	---	---	---	---
SRP68	6730	broad.mit.edu	37	17	74068528	74068530	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr17:74068528_74068530delGCC	ENST00000307877.2	-	1	204_206	c.43_45delGGC	c.(43-45)ggcdel	p.G15del	SRP68_ENST00000355113.5_5'UTR|GALR2_ENST00000329003.3_5'Flank|SRP68_ENST00000539137.1_In_Frame_Del_p.G15del	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	15	Poly-Gly.			Missing (in Ref. 1; AAF24308). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)|ribosome (GO:0005840)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|endoplasmic reticulum signal peptide binding (GO:0030942)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						cgccgccactgccgccgccgccg	0.709																																						ENST00000307877.2																			0				NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						c.(43-45)del		signal recognition particle 68kDa				26,1444		5,16,714						-7.9	0.0			11	113,3743		17,79,1832	no	coding	SRP68	NM_014230.2		22,95,2546	A1A1,A1R,RR		2.9305,1.7687,2.6098				139,5187				SO:0001651	inframe_deletion	6730				response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding	g.chr17:74068528_74068530delGCC	AF195951	CCDS11738.1, CCDS58600.1, CCDS58601.1	17q25.1	2010-04-30	2002-08-29		ENSG00000167881	ENSG00000167881			11302	protein-coding gene	gene with protein product		604858	"""signal recognition particle 68kD"""			10618370	Standard	NM_014230		Approved		uc002jqk.2	Q9UHB9		ENST00000307877.2:c.43_45delGGC	17.37:g.74068537_74068539delGCC	ENSP00000312066:p.Gly15del					SRP68_ENST00000355113.5_5'UTR|SRP68_ENST00000539137.1_In_Frame_Del_p.G15del	p.G15del	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN			1	204_206	-			15	Missing (in Ref. 1).		Poly-Gly.		B3KUU5|B3KWY7|G3V1U4|Q8NCJ4|Q8WUK2	In_Frame_Del	DEL	ENST00000307877.2	37	c.43_45delGGC	CCDS11738.1																																																																																				0.709	SRP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449487.1	NM_014230		7	231						7	231	---	---	---	---
SMAD4	4089	broad.mit.edu	37	18	48584504	48584504	+	Frame_Shift_Del	DEL	C	C	-	rs539739051		TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr18:48584504delC	ENST00000342988.3	+	6	1215	c.677delC	c.(676-678)gccfs	p.A226fs	RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000398417.2_Frame_Shift_Del_p.A226fs|SMAD4_ENST00000452201.2_3'UTR|SMAD4_ENST00000588745.1_Intron	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	226					atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GGTCAGCCTGCCAGTATACTG	0.438																																						ENST00000342988.3																			38	Whole gene deletion(36)|Unknown(2)	p.0?(36)|p.?(2)	pancreas(26)|stomach(3)|breast(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)	NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454						c.(676-678)gcfs		SMAD family member 4							65.0	60.0	62.0					18																	48584504		2203	4300	6503	SO:0001589	frameshift_variant	4089				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48584504delC	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.677delC	18.37:g.48584504delC	ENSP00000341551:p.Ala226fs					SMAD4_ENST00000588745.1_Intron|SMAD4_ENST00000452201.2_3'UTR|RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000398417.2_Frame_Shift_Del_p.A226fs	p.A226fs	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	6	1215	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	226					A8K405	Frame_Shift_Del	DEL	ENST00000342988.3	37	c.677delC	CCDS11950.1																																																																																				0.438	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359		36	170						36	170	---	---	---	---
PROSER3	148137	broad.mit.edu	37	19	36255947	36255949	+	In_Frame_Del	DEL	CTC	CTC	-	rs370252048		TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr19:36255947_36255949delCTC	ENST00000544099.1	+	7	702_704	c.639_641delCTC	c.(637-642)atctcc>atc	p.S218del	C19orf55_ENST00000396908.4_In_Frame_Del_p.S218del			Q2NL68	PRSR3_HUMAN		218	Ser-rich.									cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AAGCCTCCATCTCCTCCTCCTCC	0.631																																						ENST00000544099.1																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15						c.(637-642)atc>at		chromosome 19 open reading frame 55				30,4128		11,8,2060						2.0	0.3			153	66,8064		29,8,4028	no	coding	C19orf55	NM_001039887.2		40,16,6088	A1A1,A1R,RR		0.8118,0.7215,0.7812				96,12192				SO:0001651	inframe_deletion	148137							g.chr19:36255947_36255949delCTC																												ENST00000544099.1:c.639_641delCTC	19.37:g.36255956_36255958delCTC	ENSP00000467267:p.Ser218del					C19orf55_ENST00000396908.4_In_Frame_Del_p.IS213del	p.IS213del			Q2NL68	CS055_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		7	702_704	+	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		213			Ser-rich.		Q8NDI3|Q8WWC8|Q96NL4	In_Frame_Del	DEL	ENST00000544099.1	37	c.639_641delCTC																																																																																					0.631	C19orf55-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000398160.2			12	1432						12	1432	---	---	---	---
WDR62	284403	broad.mit.edu	37	19	36583666	36583668	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr19:36583666_36583668delGCA	ENST00000270301.7	+	19	2286_2288	c.2286_2288delGCA	c.(2284-2289)cggcag>cgg	p.Q766del	WDR62_ENST00000401500.2_In_Frame_Del_p.Q766del			O43379	WDR62_HUMAN	WD repeat domain 62	766					cerebral cortex development (GO:0021987)|neurogenesis (GO:0022008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle pole (GO:0000922)				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TTGACCACCGGCAGCAGCAGCAG	0.616																																						ENST00000401500.2																			0				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43						c.(2284-2289)cgg>cg		WD repeat domain 62																																				SO:0001651	inframe_deletion	284403				cerebral cortex development	nucleus		g.chr19:36583666_36583668delGCA	BX647726	CCDS33001.1, CCDS46059.1	19q13.12	2013-01-09	2005-05-09	2005-05-09	ENSG00000075702	ENSG00000075702		"""WD repeat domain containing"""	24502	protein-coding gene	gene with protein product		613583	"""chromosome 19 open reading frame 14"", ""microcephaly, primary autosomal recessive 2"""	C19orf14, MCPH2		19910486, 20729831, 20890278, 21496009	Standard	NM_001083961		Approved	DKFZP434J046, FLJ33298	uc002odd.2	O43379	OTTHUMG00000048139	ENST00000270301.7:c.2286_2288delGCA	19.37:g.36583675_36583677delGCA	ENSP00000270301:p.Gln766del					WDR62_ENST00000270301.7_In_Frame_Del_p.RQ762del	p.RQ762del	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		19	2321_2323	+	Esophageal squamous(110;0.162)		762					Q63HP9|Q659D7|Q8NBF7|Q96AD9	In_Frame_Del	DEL	ENST00000270301.7	37	c.2286_2288delGCA	CCDS33001.1																																																																																				0.616	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457436.1	NM_015671		8	724						8	724	---	---	---	---
FUZ	80199	broad.mit.edu	37	19	50310483	50310485	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr19:50310483_50310485delCAG	ENST00000313777.4	-	11	1343_1345	c.1180_1182delCTG	c.(1180-1182)ctgdel	p.L394del	FUZ_ENST00000528094.1_In_Frame_Del_p.L358del|FUZ_ENST00000445575.2_Intron|AC006942.4_ENST00000600669.1_RNA|FUZ_ENST00000533418.1_In_Frame_Del_p.L344del	NM_025129.4	NP_079405.2	Q9BT04	FUZZY_HUMAN	fuzzy planar cell polarity protein	394	Leu-rich.				cilium assembly (GO:0042384)|embryonic body morphogenesis (GO:0010172)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of planar polarity (GO:0001736)|hair follicle development (GO:0001942)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000314)|negative regulation of neural crest formation (GO:0090301)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|positive regulation of cilium assembly (GO:0045724)|protein transport (GO:0015031)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)				endometrium(1)|lung(3)	4		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)		TCTGGGGAGACAGCAGCAGCAGC	0.635																																						ENST00000313777.4																			0				endometrium(1)|lung(3)	4						c.(1180-1182)del		fuzzy planar cell polarity protein																																				SO:0001651	inframe_deletion	80199				cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway	cytoplasm|cytoskeleton		g.chr19:50310483_50310485delCAG	BC016793	CCDS12781.1, CCDS54293.1	19q13.33	2013-03-05	2013-03-05			ENSG00000010361			26219	protein-coding gene	gene with protein product		610622	"""fuzzy homolog (Drosophila)"""			21761479	Standard	NM_001171937		Approved	FLJ22688, Fy	uc002ppq.2	Q9BT04		ENST00000313777.4:c.1180_1182delCTG	19.37:g.50310492_50310494delCAG	ENSP00000313309:p.Leu394del					FUZ_ENST00000528094.1_In_Frame_Del_p.L358del|FUZ_ENST00000445575.2_Intron|FUZ_ENST00000533418.1_In_Frame_Del_p.L344del	p.L394del	NM_025129.4	NP_079405.2	Q9BT04	FUZZY_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)	11	1343_1345	-		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	394			Leu-rich.		B2RD86|B5MDH0|Q6PJY0|Q9H613	In_Frame_Del	DEL	ENST00000313777.4	37	c.1180_1182delCTG	CCDS12781.1																																																																																				0.635	FUZ-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393986.1	NM_025129		12	207						12	207	---	---	---	---
KIZ-AS1	101929591	broad.mit.edu	37	20	21146805	21146805	+	RNA	DEL	G	G	-			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr20:21146805delG	ENST00000591761.1	-	0	5051				PLK1S1_ENST00000457464.1_RNA																							TTTTTTTTTTGTCCATGAGGC	0.383																																						ENST00000591761.1																			0																																																			0							g.chr20:21146805delG																													20.37:g.21146805delG						PLK1S1_ENST00000457464.1_RNA								0	5051	-									RNA	DEL	ENST00000591761.1	37																																																																																						0.383	RP4-777D9.2-002	KNOWN	basic	antisense	antisense	OTTHUMT00000078258.2			7	76						7	76	---	---	---	---
SYCP2	10388	broad.mit.edu	37	20	58467047	58467047	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr20:58467047delT	ENST00000357552.3	-	24	2587	c.2362delA	c.(2362-2364)atgfs	p.M788fs	SYCP2_ENST00000371001.2_Frame_Shift_Del_p.M788fs			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	788					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)	p.M788fs*1(1)		NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			AAGCTCACCATTTTTTTTTGT	0.323																																						ENST00000357552.3																			1	Deletion - Frameshift(1)	p.M788fs*1(1)	ovary(1)	NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(2362-2364)tgfs		synaptonemal complex protein 2							72.0	69.0	70.0					20																	58467047		2202	4299	6501	SO:0001589	frameshift_variant	10388				cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	g.chr20:58467047delT	Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.2362delA	20.37:g.58467047delT	ENSP00000350162:p.Met788fs					SYCP2_ENST00000371001.2_Frame_Shift_Del_p.M788fs	p.M788fs			Q9BX26	SYCP2_HUMAN	BRCA - Breast invasive adenocarcinoma(7;1.19e-09)		24	2587	-	all_lung(29;0.00344)		788					A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Frame_Shift_Del	DEL	ENST00000357552.3	37	c.2362delA	CCDS13482.1																																																																																				0.323	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258		8	254						8	254	---	---	---	---
PRDM15	63977	broad.mit.edu	37	21	43221415	43221417	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr21:43221415_43221417delCTG	ENST00000269844.3	-	31	4617_4619	c.4507_4509delCAG	c.(4507-4509)cagdel	p.Q1503del	PRDM15_ENST00000422911.1_In_Frame_Del_p.Q1194del|PRDM15_ENST00000398548.1_In_Frame_Del_p.Q1174del|PRDM15_ENST00000447207.2_In_Frame_Del_p.Q1137del|PRDM15_ENST00000470586.1_5'UTR|PRDM15_ENST00000538201.1_In_Frame_Del_p.Q1157del	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	1503	Poly-Gln.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						AGCTGTACATCTGCTGCTGCTGC	0.611																																						ENST00000422911.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						c.(3580-3582)del		PR domain containing 15			,	51,4111		1,49,2031					,	4.6	1.0			44	94,7930		4,86,3922	no	coding,coding	PRDM15	NM_022115.3,NM_001040424.1	,	5,135,5953	A1A1,A1R,RR		1.1715,1.2254,1.1899	,	,		145,12041				SO:0001651	inframe_deletion	63977				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr21:43221415_43221417delCTG	AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"""Zinc fingers, C2H2-type"""	13999	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 83"""	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.4507_4509delCAG	21.37:g.43221424_43221426delCTG	ENSP00000269844:p.Gln1503del					PRDM15_ENST00000470586.1_5'UTR|PRDM15_ENST00000269844.3_In_Frame_Del_p.Q1503del|PRDM15_ENST00000447207.2_In_Frame_Del_p.Q1137del|PRDM15_ENST00000538201.1_In_Frame_Del_p.Q1157del|PRDM15_ENST00000398548.1_In_Frame_Del_p.Q1174del	p.Q1194del			P57071	PRD15_HUMAN			25	3681_3683	-			1503					E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	In_Frame_Del	DEL	ENST00000269844.3	37	c.3580_3582delCAG	CCDS13676.1																																																																																				0.611	PRDM15-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_022115		7	476						7	476	---	---	---	---
BIK	638	broad.mit.edu	37	22	43525245	43525247	+	In_Frame_Del	DEL	GCT	GCT	-	rs542081559		TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr22:43525245_43525247delGCT	ENST00000216115.2	+	5	480_482	c.417_419delGCT	c.(415-420)gcgctg>gcg	p.L144del		NM_001197.4	NP_001188.1	Q13323	BIK_HUMAN	BCL2-interacting killer (apoptosis-inducing)	144	Leucine-zipper. {ECO:0000255}.				apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|male gonad development (GO:0008584)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|mitochondrial envelope (GO:0005740)				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|urinary_tract(1)	5		Ovarian(80;0.0694)				tgctgctggcgctgctgctgctg	0.724																																						ENST00000216115.2																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|urinary_tract(1)	5						c.(415-420)gcg>gc		BCL2-interacting killer (apoptosis-inducing)				9,134,3841		1,0,7,18,98,1868						-8.8	0.0			26	9,256,7523		1,0,7,46,164,3676	no	codingComplex	BIK	NM_001197.4		2,0,14,64,262,5544	A1A1,A1A2,A1R,A2A2,A2R,RR		3.4027,3.5894,3.4659				18,390,11364				SO:0001651	inframe_deletion	638				apoptosis|induction of apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	endomembrane system|integral to membrane		g.chr22:43525245_43525247delGCT	U34584	CCDS14044.1	22q13.31	2014-03-07			ENSG00000100290	ENSG00000100290			1051	protein-coding gene	gene with protein product		603392				7478623, 10591208	Standard	NM_001197		Approved	NBK	uc003bdk.3	Q13323	OTTHUMG00000150703	ENST00000216115.2:c.417_419delGCT	22.37:g.43525254_43525256delGCT	ENSP00000216115:p.Leu144del						p.AL139del	NM_001197.4	NP_001188.1	Q13323	BIK_HUMAN			5	480_482	+		Ovarian(80;0.0694)	139			Leucine-zipper (Potential).		Q16582|Q6FH93	In_Frame_Del	DEL	ENST00000216115.2	37	c.417_419delGCT	CCDS14044.1																																																																																				0.724	BIK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319676.1	NM_001197		16	376						16	376	---	---	---	---
RBM10	8241	broad.mit.edu	37	X	47030561	47030563	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chrX:47030561_47030563delGGA	ENST00000377604.3	+	4	1078_1080	c.336_338delGGA	c.(334-339)ggggag>ggg	p.E119del	RBM10_ENST00000329236.7_Intron|RBM10_ENST00000345781.6_Intron	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	119	Poly-Glu.				3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						CCGAGCAAGGggaggaggaggag	0.66																																					Melanoma(171;120 2705 19495 39241)	ENST00000377604.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						c.(334-339)ggg>gg		RNA binding motif protein 10			,,,,	630,3068		53,380,144,1150,388					,,,,	4.2	1.0			18	1271,5155		67,669,468,1609,1268	no	intron,coding,coding,coding,intron	RBM10	NM_152856.2,NM_005676.4,NM_001204468.1,NM_001204467.1,NM_001204466.1	,,,,	120,1049,612,2759,1656	A1A1,A1R,A1,RR,R		19.779,17.0362,18.7772	,,,,	,,,,		1901,8223				SO:0001651	inframe_deletion	8241				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding	g.chrX:47030561_47030563delGGA	U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"""Zinc fingers, RAN-binding domain containing"", ""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.336_338delGGA	X.37:g.47030570_47030572delGGA	ENSP00000366829:p.Glu119del					RBM10_ENST00000468791.1_3'UTR|RBM10_ENST00000345781.6_Intron|RBM10_ENST00000329236.7_Intron	p.GE112del	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN			4	1078_1080	+			112					C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	In_Frame_Del	DEL	ENST00000377604.3	37	c.336_338delGGA	CCDS14274.1																																																																																				0.660	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056381.1	NM_005676		7	49						7	49	---	---	---	---
SPANXN3	139067	broad.mit.edu	37	X	142605149	142605149	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chrX:142605149delT	ENST00000370503.2	-	1	154	c.71delA	c.(70-72)aatfs	p.N24fs	GS1-256O22.5_ENST00000431432.1_RNA	NM_001009609.2	NP_001009609.1	Q5MJ09	SPXN3_HUMAN	SPANX family, member N3	24										endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					TACCTCATCATTTTTTTTGTT	0.453																																						ENST00000370503.2																			0				endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14						c.(70-72)atfs		SPANX family, member N3							221.0	189.0	200.0					X																	142605149		2203	4300	6503	SO:0001589	frameshift_variant	139067							g.chrX:142605149delT		CCDS35418.1	Xq27.3	2012-06-12			ENSG00000189252	ENSG00000189252			33176	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 8"""	300666				14973187, 17012309	Standard	NM_001009609		Approved	SPANX-N3, CT11.8	uc004fbw.3	Q5MJ09	OTTHUMG00000022582	ENST00000370503.2:c.71delA	X.37:g.142605149delT	ENSP00000359534:p.Asn24fs						p.N24fs	NM_001009609.2	NP_001009609.1	Q5MJ09	SPXN3_HUMAN			1	154	-	Acute lymphoblastic leukemia(192;6.56e-05)		24					Q0ZNK4	Frame_Shift_Del	DEL	ENST00000370503.2	37	c.71delA	CCDS35418.1																																																																																				0.453	SPANXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058620.2	NM_001009609		7	493						7	493	---	---	---	---
CD99L2	83692	broad.mit.edu	37	X	149937526	149937528	+	In_Frame_Del	DEL	GGC	GGC	-	rs7877654	byFrequency	TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chrX:149937526_149937528delGGC	ENST00000370377.3	-	11	885_887	c.768_770delGCC	c.(766-771)ccgccc>ccc	p.256_257PP>P	CD99L2_ENST00000355149.3_In_Frame_Del_p.184_185PP>P|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000466436.1_In_Frame_Del_p.207_208PP>P|CD99L2_ENST00000437787.2_In_Frame_Del_p.183_184PP>P	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	256	Poly-Pro.				cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GGCTGGTTCGGGCGGCGGCGGCG	0.611																																						ENST00000370377.3																			0				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23						c.(766-771)ccc>cc		CD99 molecule-like 2																																				SO:0001651	inframe_deletion	83692				cell adhesion	cell junction|integral to membrane		g.chrX:149937526_149937528delGGC	BC030536	CCDS14697.1, CCDS14698.1, CCDS35427.1, CCDS55527.1, CCDS76044.1	Xq28	2007-12-04	2006-03-28	2003-02-14	ENSG00000102181	ENSG00000102181			18237	protein-coding gene	gene with protein product		300846	"""MIC2 like 1"", ""CD99 antigen-like 2"""	MIC2L1			Standard	NM_001184808		Approved	CD99B	uc004fek.3	Q8TCZ2	OTTHUMG00000024247	ENST00000370377.3:c.768_770delGCC	X.37:g.149937535_149937537delGGC	ENSP00000359403:p.Pro257del					CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000466436.1_In_Frame_Del_p.PP207del|CD99L2_ENST00000437787.2_In_Frame_Del_p.PP183del|CD99L2_ENST00000355149.3_In_Frame_Del_p.PP184del	p.PP256del	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN			11	885_887	-	Acute lymphoblastic leukemia(192;6.56e-05)		256			Poly-Pro.		A8K2D5|A8K5R0|B3KWG2|B4DDL7|E7EMK5|E9PD27|Q8TAW2|Q8TCZ0|Q8TCZ1|Q9BQG9	In_Frame_Del	DEL	ENST00000370377.3	37	c.768_770delGCC	CCDS35427.1																																																																																				0.611	CD99L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000061199.1	NM_031462		8	646						8	646	---	---	---	---
RBMY2EP	159125	broad.mit.edu	37	Y	23563322	23563323	+	RNA	DEL	AC	AC	-			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chrY:23563322_23563323delAC	ENST00000444169.1	-	0	86					NR_001574.2				RNA binding motif protein, Y-linked, family 2, member E pseudogene																		ATATGAAAATacacacacacac	0.302																																						ENST00000444169.1																			0																																																			0							g.chrY:23563322_23563323delAC	U94388		Yq11.223	2013-08-05			ENSG00000242300	ENSG00000223637			23890	pseudogene	pseudogene						12815422, 9344660	Standard	NR_001574		Approved		uc004fun.1		OTTHUMG00000042038		Y.37:g.23563332_23563333delAC								NR_001574.2						0	86	-									RNA	DEL	ENST00000444169.1	37																																																																																						0.302	RBMY2EP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000471819.1	NR_001574		7	72						7	72	---	---	---	---
