#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
COLEC11	78989	broad.mit.edu	37	2	3691555	3691555	+	Silent	SNP	C	C	T	rs199962584		TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr2:3691555C>T	ENST00000349077.4	+	7	766	c.663C>T	c.(661-663)ccC>ccT	p.P221P	COLEC11_ENST00000236693.7_Silent_p.P218P|COLEC11_ENST00000404205.1_Silent_p.P147P|COLEC11_ENST00000487365.1_3'UTR|COLEC11_ENST00000402794.1_Silent_p.P171P|COLEC11_ENST00000418971.2_Silent_p.P235P|COLEC11_ENST00000403096.3_Silent_p.P195P|COLEC11_ENST00000402922.1_Silent_p.P171P|COLEC11_ENST00000382062.2_Silent_p.P197P	NM_024027.4	NP_076932.1	Q9BWP8	COL11_HUMAN	collectin sub-family member 11	221	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				developmental process (GO:0032502)|multicellular organismal development (GO:0007275)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)	mannose binding (GO:0005537)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		ACCACTCCCCCATGCGGACCT	0.642																																						ENST00000403096.3																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22						c.(583-585)ccC>ccT		collectin sub-family member 11							65.0	76.0	72.0					2																	3691555		2203	4300	6503	SO:0001819	synonymous_variant	78989					collagen	mannose binding	g.chr2:3691555C>T	BC000078	CCDS1649.1, CCDS1650.1, CCDS58689.1, CCDS58690.1, CCDS58691.1, CCDS58692.1, CCDS58693.1, CCDS58694.1	2p25.3	2014-09-17			ENSG00000118004	ENSG00000118004		"""Collectins"""	17213	protein-coding gene	gene with protein product	"""Collectin K1"""	612502					Standard	NM_024027		Approved	MGC3279, CL-K1	uc031rnn.1	Q9BWP8	OTTHUMG00000090304	ENST00000349077.4:c.663C>T	2.37:g.3691555C>T						COLEC11_ENST00000382062.2_Silent_p.P197P|COLEC11_ENST00000349077.4_Silent_p.P221P|COLEC11_ENST00000236693.7_Silent_p.P218P|COLEC11_ENST00000418971.2_Silent_p.P235P|COLEC11_ENST00000487365.1_3'UTR|COLEC11_ENST00000404205.1_Silent_p.P147P|COLEC11_ENST00000402794.1_Silent_p.P171P|COLEC11_ENST00000402922.1_Silent_p.P171P	p.P195P	NM_001255986.1	NP_001242915.1	Q9BWP8	COL11_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.127)	6	1076	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)		221			C-type lectin.		A1IGE4|A1IGE5|A1IGE6|A7VJJ2|A7VJJ3|A7VJJ4|A7VJJ5|B2R9M5|B4E1G0|J3KQY9|Q5CZ85|Q7Z6N1	Silent	SNP	ENST00000349077.4	37	c.585C>T	CCDS1649.1																																																																																				0.642	COLEC11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206666.1	NM_024027		8	77	0	0	0	1	0	8	77				
CCDC91	55297	broad.mit.edu	37	12	28458580	28458580	+	Splice_Site	SNP	A	A	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr12:28458580A>T	ENST00000545336.1	+	7	528		c.e7-1		CCDC91_ENST00000381256.1_Splice_Site|CCDC91_ENST00000540401.1_Splice_Site|CCDC91_ENST00000381259.1_Splice_Site|CCDC91_ENST00000306172.5_Splice_Site|CCDC91_ENST00000539107.1_Splice_Site			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91						protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					GTTTTTCTTTAGTATCTGGAG	0.393																																						ENST00000545336.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22						c.e7-1		coiled-coil domain containing 91							191.0	185.0	187.0					12																	28458580		2203	4300	6503	SO:0001630	splice_region_variant	55297				protein transport	Golgi apparatus|membrane		g.chr12:28458580A>T	AK093152	CCDS8716.1	12p11.22	2006-03-17				ENSG00000123106			24855	protein-coding gene	gene with protein product	"""GGA binding partner"""					12808037	Standard	XM_005253413		Approved	p56, FLJ11088, DKFZp779L1558	uc001riq.3	Q7Z6B0		ENST00000545336.1:c.110-1A>T	12.37:g.28458580A>T						CCDC91_ENST00000539107.1_Splice_Site|CCDC91_ENST00000306172.5_Splice_Site|CCDC91_ENST00000381259.1_Splice_Site|CCDC91_ENST00000381256.1_Splice_Site|CCDC91_ENST00000540401.1_Splice_Site				Q7Z6B0	CCD91_HUMAN			7	528	+	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)							B3KSA3|C9JR07|Q68D43|Q6IA78|Q8NEN7|Q9NUW9	Splice_Site	SNP	ENST00000545336.1	37		CCDS8716.1	.	.	.	.	.	.	.	.	.	.	A	10.50	1.368066	0.24771	.	.	ENSG00000123106	ENST00000538586;ENST00000539107;ENST00000536442;ENST00000545336;ENST00000543534;ENST00000545737;ENST00000381259;ENST00000381256;ENST00000306172	.	.	.	4.86	4.86	0.63082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.0599	0.47942	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCDC91	28349847	0.998000	0.40836	0.923000	0.36655	0.233000	0.25261	4.431000	0.59915	2.172000	0.68678	0.477000	0.44152	.		0.393	CCDC91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402447.1	NM_018318	Intron	5	110	0	0	0	1	0	5	110				
STX4	6810	broad.mit.edu	37	16	31045793	31045793	+	Silent	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr16:31045793G>A	ENST00000313843.3	+	4	558	c.243G>A	c.(241-243)caG>caA	p.Q81Q	STX4_ENST00000493902.1_3'UTR|STX4_ENST00000394998.1_Silent_p.Q79Q	NM_004604.3	NP_004595.2	Q12846	STX4_HUMAN	syntaxin 4	81					blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|neurotransmitter transport (GO:0006836)|platelet activation (GO:0030168)|post-Golgi vesicle-mediated transport (GO:0006892)|SNARE complex assembly (GO:0035493)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|membrane (GO:0016020)|myelin sheath adaxonal region (GO:0035749)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|specific granule (GO:0042581)|trans-Golgi network (GO:0005802)|vacuole (GO:0005773)				NS(2)|breast(1)|large_intestine(3)|lung(3)	9						GCATGAAGCAGGAGCTGCAGA	0.582																																						ENST00000394998.1																			0				NS(2)|breast(1)|large_intestine(3)|lung(3)	9						c.(235-237)caG>caA		syntaxin 4							47.0	45.0	46.0					16																	31045793		2197	4300	6497	SO:0001819	synonymous_variant	6810				intracellular protein transport|platelet activation|post-Golgi vesicle-mediated transport	basolateral plasma membrane|cell surface|cytosol|integral to membrane|plasma membrane enriched fraction|specific granule|vacuole	SNAP receptor activity	g.chr16:31045793G>A	AF026007	CCDS10700.1, CCDS61916.1	16p11.2	2008-02-05	2006-04-25	2006-04-25	ENSG00000103496	ENSG00000103496			11439	protein-coding gene	gene with protein product		186591	"""syntaxin 4A (placental)"""	STX4A		8206394, 16339081	Standard	NM_001272095		Approved	p35-2	uc002eak.4	Q12846	OTTHUMG00000132404	ENST00000313843.3:c.243G>A	16.37:g.31045793G>A						STX4_ENST00000313843.3_Silent_p.Q81Q|STX4_ENST00000493902.1_3'UTR	p.Q79Q	NM_001272096.1	NP_001259025.1	Q12846	STX4_HUMAN			5	580	+			81					A8MXY0|Q15525|Q6FHE8	Silent	SNP	ENST00000313843.3	37	c.237G>A	CCDS10700.1																																																																																				0.582	STX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255538.3	NM_004604		14	27	0	0	0	1	0	14	27				
KIRREL3	84623	broad.mit.edu	37	11	126299167	126299167	+	Silent	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr11:126299167C>T	ENST00000525144.2	-	15	1962	c.1713G>A	c.(1711-1713)gtG>gtA	p.V571V	KIRREL3_ENST00000416561.2_Silent_p.V38V|KIRREL3_ENST00000529097.2_Silent_p.V559V	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	571					hemopoiesis (GO:0030097)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		TTTTGGCTGACACAACACCTT	0.468																																						ENST00000525144.2																			0				central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29						c.(1711-1713)gtG>gtA		kin of IRRE like 3 (Drosophila)							93.0	95.0	95.0					11																	126299167		1935	4135	6070	SO:0001819	synonymous_variant	84623				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding	g.chr11:126299167C>T	AB058770	CCDS53723.1, CCDS55796.1, CCDS73413.1	11q24	2013-01-29			ENSG00000149571	ENSG00000149571		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	23204	protein-coding gene	gene with protein product		607761				12424224, 11347906	Standard	NM_032531		Approved	NEPH2, KIAA1867, KIRRE	uc001qea.3	Q8IZU9	OTTHUMG00000165831	ENST00000525144.2:c.1713G>A	11.37:g.126299167C>T						KIRREL3_ENST00000416561.2_Silent_p.V38V|KIRREL3_ENST00000529097.2_Silent_p.V559V	p.V571V	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)	15	1962	-	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)	571					Q3MIJ7|Q6UWJ9|Q6UWL5|Q96JG0	Silent	SNP	ENST00000525144.2	37	c.1713G>A	CCDS53723.1																																																																																				0.468	KIRREL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386479.2	NM_032531		17	63	0	0	0	1	0	17	63				
HLA-F	3134	broad.mit.edu	37	6	29694668	29694668	+	IGR	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr6:29694668G>A	ENST00000376861.1	+	0	1544				HLA-F_ENST00000475996.1_Intron|HLA-F_ENST00000440587.2_Missense_Mutation_p.V220M|HLA-F_ENST00000259951.7_Missense_Mutation_p.V349M			P30511	HLAF_HUMAN	major histocompatibility complex, class I, F						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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						AGCCTACTCAGTGGTCAGCGG	0.463																																						ENST00000440587.2																			0				cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(658-660)Gtg>Atg		major histocompatibility complex, class I, F							104.0	119.0	114.0					6																	29694668		1491	2694	4185	SO:0001628	intergenic_variant	3134				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29694668G>A	AY253269	CCDS43437.1, CCDS43438.1, CCDS43439.1	6p21.3	2013-01-11			ENSG00000204642	ENSG00000204642		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4963	protein-coding gene	gene with protein product		143110				1688605	Standard	NM_018950		Approved		uc003nno.4	P30511	OTTHUMG00000031156		6.37:g.29694668G>A						HLA-F_ENST00000475996.1_Intron|HLA-F_ENST00000259951.7_Missense_Mutation_p.V349M	p.V220M			P30511	HLAF_HUMAN			6	1017	+			0			Alpha-3.|Ig-like C1-type.		Q5JQI8|Q5JQJ1|Q5SPT5|Q860R0|Q8MGQ1|Q8WLP5|Q95HC0|Q9TP68	Missense_Mutation	SNP	ENST00000376861.1	37	c.658G>A	CCDS43438.1	.	.	.	.	.	.	.	.	.	.	.	10.08	1.252302	0.22880	.	.	ENSG00000204642	ENST00000449921;ENST00000259951;ENST00000399258;ENST00000440587	T;T	0.00745	5.75;5.8	0.62	0.62	0.17637	.	.	.	.	.	T	0.00552	0.0018	N	0.14661	0.345	0.27138	N	0.961736	B;D	0.58970	0.318;0.984	B;D	0.65323	0.012;0.934	T	0.57871	-0.7736	9	0.87932	D	0	.	7.0003	0.24805	1.0E-4:0.0:0.9999:0.0	.	349;349	A8MVU7;P30511-3	.;.	M	326;349;263;220	ENSP00000259951:V349M;ENSP00000404130:V220M	ENSP00000259951:V349M	V	+	1	0	HLA-F	29802647	1.000000	0.71417	0.109000	0.21407	0.027000	0.11550	6.536000	0.73842	0.580000	0.29522	0.436000	0.28706	GTG		0.463	HLA-F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195083.1	NM_018950		42	105	0	0	0	1	0	42	105				
HSP90B1	7184	broad.mit.edu	37	12	104332226	104332226	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr12:104332226A>G	ENST00000299767.5	+	7	1146	c.964A>G	c.(964-966)Aag>Gag	p.K322E		NM_003299.2	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	322					actin rod assembly (GO:0031247)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cellular response to ATP (GO:0071318)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|protein folding (GO:0006457)|protein transport (GO:0015031)|regulation of phosphoprotein phosphatase activity (GO:0043666)|response to hypoxia (GO:0001666)|sequestering of calcium ion (GO:0051208)|toll-like receptor signaling pathway (GO:0002224)	cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|low-density lipoprotein particle receptor binding (GO:0050750)|protein phosphatase binding (GO:0019903)|RNA binding (GO:0003723)|virion binding (GO:0046790)			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	aaagaaACCAAAGACTAAAAA	0.388																																						ENST00000299767.5																			0				central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29						c.(964-966)Aag>Gag		heat shock protein 90kDa beta (Grp94), member 1	Rifabutin(DB00615)						45.0	49.0	47.0					12																	104332226		2203	4300	6503	SO:0001583	missense	7184				actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding	g.chr12:104332226A>G	AY040226	CCDS9094.1	12q24.2-q24.3	2011-09-02	2006-02-24	2006-02-24		ENSG00000166598		"""Heat shock proteins / HSPC"""	12028	protein-coding gene	gene with protein product		191175	"""tumor rejection antigen (gp96) 1"""	TRA1		16269234	Standard	NM_003299		Approved	GP96, GRP94	uc001tkb.2	P14625	OTTHUMG00000170118	ENST00000299767.5:c.964A>G	12.37:g.104332226A>G	ENSP00000299767:p.Lys322Glu						p.K322E	NM_003299.1	NP_003290.1	P14625	ENPL_HUMAN			7	1146	+			322					Q96A97	Missense_Mutation	SNP	ENST00000299767.5	37	c.964A>G	CCDS9094.1	.	.	.	.	.	.	.	.	.	.	A	15.20	2.763352	0.49574	.	.	ENSG00000166598	ENST00000299767;ENST00000421266	T	0.17370	2.28	5.78	5.78	0.91487	ATPase-like, ATP-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.34745	0.0908	L	0.52364	1.645	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	T	0.03695	-1.1012	10	0.59425	D	0.04	.	12.4981	0.55940	1.0:0.0:0.0:0.0	.	322	P14625	ENPL_HUMAN	E	322;72	ENSP00000299767:K322E	ENSP00000299767:K322E	K	+	1	0	HSP90B1	102856356	1.000000	0.71417	0.940000	0.37924	0.022000	0.10575	6.690000	0.74567	2.197000	0.70478	0.533000	0.62120	AAG		0.388	HSP90B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407349.1	NM_003299		13	23	0	0	0	1	0	13	23				
LYST	1130	broad.mit.edu	37	1	235922372	235922372	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr1:235922372G>A	ENST00000389794.3	-	23	6955	c.6781C>T	c.(6781-6783)Cgt>Tgt	p.R2261C	LYST_ENST00000389793.2_Missense_Mutation_p.R2261C			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2261					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CTTGGCCAACGGCCAACAGCT	0.473																																						ENST00000389794.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162						c.(6781-6783)Cgt>Tgt		lysosomal trafficking regulator							73.0	69.0	71.0					1																	235922372		2203	4300	6503	SO:0001583	missense	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235922372G>A	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.6781C>T	1.37:g.235922372G>A	ENSP00000374444:p.Arg2261Cys					LYST_ENST00000389793.2_Missense_Mutation_p.R2261C	p.R2261C			Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		23	6955	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	2261					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.6781C>T	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	G	18.43	3.621863	0.66787	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.67865	-0.29;-0.29	4.93	2.99	0.34606	.	0.597834	0.18240	N	0.147275	T	0.73674	0.3617	M	0.63428	1.95	0.80722	D	1	D	0.89917	1.0	D	0.66602	0.945	T	0.71632	-0.4534	10	0.87932	D	0	.	5.2737	0.15638	0.0775:0.1389:0.6304:0.1532	.	2261	Q99698	LYST_HUMAN	C	2261	ENSP00000374444:R2261C;ENSP00000374443:R2261C	ENSP00000374443:R2261C	R	-	1	0	LYST	233988995	0.988000	0.35896	0.056000	0.19401	0.908000	0.53690	3.932000	0.56537	0.565000	0.29255	0.558000	0.71614	CGT		0.473	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			23	40	0	0	0	1	0	23	40				
TSC2	7249	broad.mit.edu	37	16	2132493	2132493	+	Missense_Mutation	SNP	G	G	A	rs201135184		TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr16:2132493G>A	ENST00000219476.3	+	32	4501	c.3871G>A	c.(3871-3873)Gtt>Att	p.V1291I	TSC2_ENST00000568454.1_Intron|TSC2_ENST00000401874.2_Intron|TSC2_ENST00000382538.6_Intron|TSC2_ENST00000353929.4_Missense_Mutation_p.V1248I|TSC2_ENST00000439673.2_Intron|TSC2_ENST00000350773.4_Intron	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1291					acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				GCACAGGAGCGTTTCCTGGGC	0.647			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				G|||	1	0.000199681	0.0	0.0	5008	,	,		19886	0.0		0.001	False		,,,				2504	0.0					ENST00000219476.3			yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	"""D, Mis, N, F, S"""	tuberous sclerosis 2 gene			"""E, O"""		"""hamartoma, renal cell"""			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56						c.(3871-3873)Gtt>Att		tuberous sclerosis 2							99.0	88.0	92.0					16																	2132493		2198	4298	6496	SO:0001583	missense	7249	Tuberous Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity	g.chr16:2132493G>A	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.3871G>A	16.37:g.2132493G>A	ENSP00000219476:p.Val1291Ile					TSC2_ENST00000353929.4_Missense_Mutation_p.V1248I|TSC2_ENST00000401874.2_Intron|TSC2_ENST00000382538.6_Intron|TSC2_ENST00000350773.4_Intron|TSC2_ENST00000439673.2_Intron|TSC2_ENST00000568454.1_Intron	p.V1291I	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN			32	4501	+		Hepatocellular(780;0.0202)	1291					A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	ENST00000219476.3	37	c.3871G>A	CCDS10458.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	1.861	-0.462674	0.04508	.	.	ENSG00000103197	ENST00000219476;ENST00000353929	D;D	0.87571	-2.27;-2.18	4.25	-1.49	0.08718	.	0.582077	0.16292	N	0.220854	T	0.63379	0.2506	N	0.01576	-0.805	0.23628	N	0.997252	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.0	T	0.54761	-0.8245	10	0.18710	T	0.47	-1.518	10.0827	0.42399	0.524:0.0:0.476:0.0	.	1247;1291	P49815-3;P49815	.;TSC2_HUMAN	I	1291;1248	ENSP00000219476:V1291I;ENSP00000248099:V1248I	ENSP00000219476:V1291I	V	+	1	0	TSC2	2072494	1.000000	0.71417	0.997000	0.53966	0.878000	0.50629	0.977000	0.29475	-0.241000	0.09681	-0.459000	0.05422	GTT		0.647	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548		20	5	0	0	0	1	0	20	5				
ENPP2	5168	broad.mit.edu	37	8	120569905	120569905	+	Silent	SNP	T	T	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr8:120569905T>C	ENST00000075322.6	-	25	2506	c.2448A>G	c.(2446-2448)gtA>gtG	p.V816V	ENPP2_ENST00000522167.1_Silent_p.V451V|ENPP2_ENST00000522826.1_Silent_p.V841V|ENPP2_ENST00000427067.2_Silent_p.V837V|ENPP2_ENST00000259486.6_Silent_p.V868V	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	816					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TGAGTTCTTCTACCCATTTTG	0.458																																					Melanoma(20;305 879 2501 4818 31020)	ENST00000427067.2																			0				breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69						c.(2509-2511)gtA>gtG		ectonucleotide pyrophosphatase/phosphodiesterase 2							187.0	168.0	175.0					8																	120569905		2203	4300	6503	SO:0001819	synonymous_variant	5168				cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	g.chr8:120569905T>C	D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"""autotaxin"""	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.2448A>G	8.37:g.120569905T>C						ENPP2_ENST00000522826.1_Silent_p.V841V|ENPP2_ENST00000259486.6_Silent_p.V868V|ENPP2_ENST00000522167.1_Silent_p.V451V|ENPP2_ENST00000075322.6_Silent_p.V816V	p.V837V			Q13822	ENPP2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		26	2691	-	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		816			Required for secretion (By similarity).		A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Silent	SNP	ENST00000075322.6	37	c.2511A>G	CCDS34936.1																																																																																				0.458	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1			33	142	0	0	0	1	0	33	142				
MTA3	57504	broad.mit.edu	37	2	42909669	42909669	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr2:42909669C>G	ENST00000405094.1	+	9	831	c.831C>G	c.(829-831)agC>agG	p.S277R	MTA3_ENST00000406911.1_Missense_Mutation_p.S277R|MTA3_ENST00000407270.3_Missense_Mutation_p.S277R|MTA3_ENST00000405592.1_Missense_Mutation_p.S221R|MTA3_ENST00000406652.1_Missense_Mutation_p.S221R			Q9BTC8	MTA3_HUMAN	metastasis associated 1 family, member 3	277	SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}.					intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(9)|ovary(2)|stomach(1)	15						CTGAAGCTAGCTTATTTGAAG	0.388																																						ENST00000405592.1																			0				endometrium(1)|large_intestine(2)|lung(9)|ovary(2)|stomach(1)	15						c.(661-663)agC>agG		metastasis associated 1 family, member 3							76.0	70.0	72.0					2																	42909669		1876	4110	5986	SO:0001583	missense	57504					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:42909669C>G	AB033092	CCDS46267.1, CCDS62900.1	2p22.1	2013-01-25	2004-12-15		ENSG00000057935	ENSG00000057935		"""GATA zinc finger domain containing"""	23784	protein-coding gene	gene with protein product		609050	"""metastasis associated gene family, member 3"""			12705869, 14613024	Standard	NM_001282755		Approved	KIAA1266	uc002rsq.3	Q9BTC8	OTTHUMG00000150452	ENST00000405094.1:c.831C>G	2.37:g.42909669C>G	ENSP00000385823:p.Ser277Arg					MTA3_ENST00000406652.1_Missense_Mutation_p.S221R|MTA3_ENST00000406911.1_Missense_Mutation_p.S277R|MTA3_ENST00000405094.1_Missense_Mutation_p.S277R|MTA3_ENST00000407270.3_Missense_Mutation_p.S277R	p.S221R			Q9BTC8	MTA3_HUMAN			10	1333	+			277			ELM2.		Q9NSP2|Q9ULF4	Missense_Mutation	SNP	ENST00000405094.1	37	c.663C>G		.	.	.	.	.	.	.	.	.	.	C	12.67	2.006513	0.35415	.	.	ENSG00000057935	ENST00000405592;ENST00000406652;ENST00000407270;ENST00000282366;ENST00000406911;ENST00000405094	T;T;T;T;T	0.34667	1.35;1.35;1.35;1.35;1.35	5.66	0.139	0.14798	.	0.357629	0.35970	N	0.002873	T	0.15305	0.0369	N	0.02842	-0.48	0.32351	N	0.558449	B;B;B	0.30793	0.295;0.027;0.161	B;B;B	0.30943	0.045;0.026;0.122	T	0.16600	-1.0397	10	0.72032	D	0.01	-15.6184	10.4673	0.44616	0.0:0.4879:0.0:0.5121	.	277;277;221	E7EQY4;Q9BTC8-2;D6W5A2	.;.;.	R	221;221;277;277;277;277	ENSP00000383973:S221R;ENSP00000384249:S221R;ENSP00000385045:S277R;ENSP00000385241:S277R;ENSP00000385823:S277R	ENSP00000282366:S277R	S	+	3	2	MTA3	42763173	0.998000	0.40836	0.994000	0.49952	0.994000	0.84299	1.355000	0.34068	-0.003000	0.14444	-0.218000	0.12543	AGC		0.388	MTA3-017	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000318159.1	NM_020744		29	12	0	0	0	1	0	29	12				
ZNF616	90317	broad.mit.edu	37	19	52618981	52618981	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr19:52618981C>T	ENST00000600228.1	-	4	1697	c.1436G>A	c.(1435-1437)cGa>cAa	p.R479Q	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	479					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		AGCTGCAAGTCGTGAATGTAT	0.418																																						ENST00000600228.1																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(1435-1437)cGa>cAa		zinc finger protein 616							112.0	102.0	106.0					19																	52618981		2203	4300	6503	SO:0001583	missense	90317				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52618981C>T	AK092266	CCDS33090.1	19q13.41	2013-01-08				ENSG00000204611		"""Zinc fingers, C2H2-type"", ""-"""	28062	protein-coding gene	gene with protein product							Standard	NM_178523		Approved	MGC45556	uc002pym.3	Q08AN1		ENST00000600228.1:c.1436G>A	19.37:g.52618981C>T	ENSP00000471000:p.Arg479Gln					ZNF616_ENST00000330123.5_3'UTR	p.R479Q	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN		GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)	4	1697	-			479					B3KRV1|Q0P658|Q658V7	Missense_Mutation	SNP	ENST00000600228.1	37	c.1436G>A	CCDS33090.1	.	.	.	.	.	.	.	.	.	.	C	7.547	0.661978	0.14645	.	.	ENSG00000204611	ENST00000330123	.	.	.	1.08	-2.15	0.07102	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08891	0.0220	N	0.02357	-0.585	0.09310	N	1	B	0.17667	0.023	B	0.08055	0.003	T	0.19516	-1.0303	8	0.15066	T	0.55	.	2.6705	0.05066	0.3388:0.2533:0.0:0.4078	.	479	Q08AN1	ZN616_HUMAN	Q	479	.	ENSP00000328722:R479Q	R	-	2	0	ZNF616	57310793	0.000000	0.05858	0.000000	0.03702	0.225000	0.24961	-3.457000	0.00464	-2.120000	0.00826	0.305000	0.20034	CGA		0.418	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462451.1	XM_030892		16	49	0	0	0	1	0	16	49				
PCDHB6	56130	broad.mit.edu	37	5	140530370	140530370	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr5:140530370C>T	ENST00000231136.1	+	1	532	c.532C>T	c.(532-534)Cac>Tac	p.H178Y	PCDHB6_ENST00000543635.1_Missense_Mutation_p.H42Y	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	178	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTCACTTCCACGTTCTCAC	0.542																																						ENST00000231136.1																			0				cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84						c.(532-534)Cac>Tac									145.0	152.0	150.0					5																	140530370		2203	4300	6503	SO:0001583	missense	56130				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140530370C>T	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.532C>T	5.37:g.140530370C>T	ENSP00000231136:p.His178Tyr					PCDHB6_ENST00000543635.1_Missense_Mutation_p.H42Y	p.H178Y	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	532	+			178			Cadherin 2.		B2R8R9	Missense_Mutation	SNP	ENST00000231136.1	37	c.532C>T	CCDS4248.1	.	.	.	.	.	.	.	.	.	.	C	9.190	1.025837	0.19512	.	.	ENSG00000113211	ENST00000543635;ENST00000231136	T;T	0.51325	0.71;0.71	4.7	2.78	0.32641	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.60805	0.2297	M	0.71206	2.165	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.48658	-0.9016	9	0.54805	T	0.06	.	3.0732	0.06237	0.1416:0.5444:0.1385:0.1754	.	178	Q9Y5E3	PCDB6_HUMAN	Y	42;178	ENSP00000438466:H42Y;ENSP00000231136:H178Y	ENSP00000231136:H178Y	H	+	1	0	PCDHB6	140510554	0.000000	0.05858	0.996000	0.52242	0.950000	0.60333	-0.051000	0.11885	1.098000	0.41479	0.561000	0.74099	CAC		0.542	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		8	181	0	0	0	1	0	8	181				
SDR16C5	195814	broad.mit.edu	37	8	57219234	57219234	+	Splice_Site	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr8:57219234C>T	ENST00000303749.3	-	5	1348		c.e5+1		SDR16C5_ENST00000396721.2_Splice_Site|SDR16C5_ENST00000522671.1_Splice_Site	NM_138969.2	NP_620419.2	Q8N3Y7	RDHE2_HUMAN	short chain dehydrogenase/reductase family 16C, member 5						detection of light stimulus involved in visual perception (GO:0050908)|keratinocyte proliferation (GO:0043616)|retinal metabolic process (GO:0042574)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	retinol dehydrogenase activity (GO:0004745)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						GACATACTTACCCTGTAGTAC	0.289																																						ENST00000396721.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						c.e4+1		short chain dehydrogenase/reductase family 16C, member 5							65.0	66.0	65.0					8																	57219234		2203	4300	6503	SO:0001630	splice_region_variant	195814				detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity	g.chr8:57219234C>T		CCDS6167.1	8q12.1	2011-09-20			ENSG00000170786	ENSG00000170786	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	30311	protein-coding gene	gene with protein product		608989				12372410	Standard	NM_138969		Approved	RDHE2, RDH-E2	uc003xsy.1	Q8N3Y7	OTTHUMG00000164311	ENST00000303749.3:c.710+1G>A	8.37:g.57219234C>T						SDR16C5_ENST00000522671.1_Splice_Site|SDR16C5_ENST00000303749.3_Splice_Site				Q8N3Y7	RDHE2_HUMAN			4	709	-								B4DGK2|Q330K3|Q8TDV9|Q96LX1	Splice_Site	SNP	ENST00000303749.3	37		CCDS6167.1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.432018	0.62844	.	.	ENSG00000170786	ENST00000396721;ENST00000303749;ENST00000522671	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.492	0.95054	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SDR16C5	57381788	1.000000	0.71417	0.952000	0.39060	0.530000	0.34684	7.671000	0.83941	2.614000	0.88457	0.650000	0.86243	.		0.289	SDR16C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378235.1	NM_138969	Intron	42	34	0	0	0	1	0	42	34				
A2ML1	144568	broad.mit.edu	37	12	8998036	8998036	+	Splice_Site	SNP	A	A	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr12:8998036A>T	ENST00000299698.7	+	13	1656		c.e13-1		A2ML1_ENST00000539547.1_Splice_Site|A2ML1_ENST00000540049.1_3'UTR	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1											NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						TTTCTTCTTTAGTTAATAGGG	0.428																																						ENST00000299698.7																			0				NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						c.e13-1		alpha-2-macroglobulin-like 1							74.0	73.0	73.0					12																	8998036		1867	4096	5963	SO:0001630	splice_region_variant	144568					extracellular space	endopeptidase inhibitor activity	g.chr12:8998036A>T	AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"""C3 and PZP-like, alpha-2-macroglobulin domain containing 9"""	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.1477-1A>T	12.37:g.8998036A>T						A2ML1_ENST00000539547.1_Splice_Site|A2ML1_ENST00000540049.1_3'UTR		NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN			13	1656	+									Splice_Site	SNP	ENST00000299698.7	37		CCDS8596.2	.	.	.	.	.	.	.	.	.	.	A	13.60	2.286896	0.40494	.	.	ENSG00000166535	ENST00000299698;ENST00000539161;ENST00000541459;ENST00000536789;ENST00000539547;ENST00000545692	.	.	.	4.0	2.86	0.33363	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.9493	0.24536	0.804:0.0:0.196:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	A2ML1	8889303	1.000000	0.71417	0.856000	0.33681	0.964000	0.63967	4.210000	0.58500	0.884000	0.36064	0.459000	0.35465	.		0.428	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	NM_144670	Intron	4	93	0	0	0	1	0	4	93				
F5	2153	broad.mit.edu	37	1	169499025	169499025	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr1:169499025G>A	ENST00000367797.3	-	16	5441	c.5240C>T	c.(5239-5241)cCc>cTc	p.P1747L	F5_ENST00000367796.3_Missense_Mutation_p.P1752L	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1747	F5/8 type A 3.|Plastocyanin-like 5.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	GATTAGGAGGGGACCTATCAA	0.373																																						ENST00000367796.3																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128						c.(5254-5256)cCc>cTc		coagulation factor V (proaccelerin, labile factor)	Drotrecogin alfa(DB00055)						134.0	131.0	132.0					1																	169499025		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169499025G>A	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.5240C>T	1.37:g.169499025G>A	ENSP00000356771:p.Pro1747Leu					F5_ENST00000367797.3_Missense_Mutation_p.P1747L	p.P1752L			P12259	FA5_HUMAN			16	5456	-	all_hematologic(923;0.208)		1747			F5/8 type A 3.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.5255C>T	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.783401	0.90282	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	D;D	0.99311	-5.73;-5.73	5.5	5.5	0.81552	Cupredoxin (2);	0.000000	0.85682	D	0.000000	D	0.99542	0.9836	M	0.88512	2.96	0.43435	D	0.995608	D	0.89917	1.0	D	0.97110	1.0	D	0.98576	1.0648	9	0.87932	D	0	-20.2651	19.3971	0.94611	0.0:0.0:1.0:0.0	.	1747	P12259	FA5_HUMAN	L	1747;1752	ENSP00000356771:P1747L;ENSP00000356770:P1752L	ENSP00000356770:P1752L	P	-	2	0	F5	167765649	1.000000	0.71417	0.995000	0.50966	0.912000	0.54170	9.197000	0.94985	2.584000	0.87258	0.557000	0.71058	CCC		0.373	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		15	148	0	0	0	1	0	15	148				
NAT10	55226	broad.mit.edu	37	11	34161956	34161956	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr11:34161956G>A	ENST00000257829.3	+	24	2635	c.2429G>A	c.(2428-2430)cGg>cAg	p.R810Q	NAT10_ENST00000531159.2_Missense_Mutation_p.R738Q|NAT10_ENST00000527971.1_Intron	NM_024662.2	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	810	Required for localization to the nucleolus and midbody.					membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				GCCCTGAGCCGGGAGGAGCTG	0.577																																						ENST00000257829.3																			0				endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(2428-2430)cGg>cAg		N-acetyltransferase 10 (GCN5-related)							112.0	97.0	102.0					11																	34161956		2202	4298	6500	SO:0001583	missense	55226					nucleolus	ATP binding|N-acetyltransferase activity|protein binding	g.chr11:34161956G>A	AF489535	CCDS7889.1, CCDS44568.1	11p13	2011-11-16	2008-09-24		ENSG00000135372	ENSG00000135372	2.3.1.-		29830	protein-coding gene	gene with protein product		609221	"""N-acetyltransferase 10"""			14592445, 21177859	Standard	NM_024662		Approved	hALP, FLJ10774, FLJ12179, NET43, KIAA1709	uc001mvk.3	Q9H0A0	OTTHUMG00000166249	ENST00000257829.3:c.2429G>A	11.37:g.34161956G>A	ENSP00000257829:p.Arg810Gln					NAT10_ENST00000527971.1_Intron|NAT10_ENST00000531159.2_Missense_Mutation_p.R738Q	p.R810Q	NM_024662.2	NP_078938.2	Q9H0A0	NAT10_HUMAN			24	2635	+		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)	810			Required for localization to the nucleolus and midbody.		B4DFD5|E7ESU4|E9PMN9|Q86WK5|Q9C0F4|Q9HA61|Q9NVF2	Missense_Mutation	SNP	ENST00000257829.3	37	c.2429G>A	CCDS7889.1	.	.	.	.	.	.	.	.	.	.	G	16.20	3.055741	0.55325	.	.	ENSG00000135372	ENST00000257829;ENST00000531159	T;T	0.29655	1.56;1.56	5.28	4.37	0.52481	.	0.145718	0.64402	D	0.000009	T	0.28466	0.0704	L	0.49126	1.545	0.52099	D	0.999942	B	0.16603	0.018	B	0.20184	0.028	T	0.05289	-1.0894	10	0.26408	T	0.33	-19.6006	12.6245	0.56622	0.0774:0.0:0.9226:0.0	.	810	Q9H0A0	NAT10_HUMAN	Q	810;738	ENSP00000257829:R810Q;ENSP00000433011:R738Q	ENSP00000257829:R810Q	R	+	2	0	NAT10	34118532	1.000000	0.71417	0.837000	0.33122	0.209000	0.24338	3.880000	0.56145	1.368000	0.46115	0.563000	0.77884	CGG		0.577	NAT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388693.1	NM_024662		6	119	0	0	0	1	0	6	119				
INTS6	26512	broad.mit.edu	37	13	51939890	51939890	+	Nonstop_Mutation	SNP	A	A	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr13:51939890A>T	ENST00000311234.4	-	18	3134	c.2662T>A	c.(2662-2664)Taa>Aaa	p.*888K	INTS6_ENST00000398119.2_Nonstop_Mutation_p.*875K|INTS6_ENST00000490542.1_Nonstop_Mutation_p.*572K|RP11-24B19.3_ENST00000602636.1_RNA|INTS6_ENST00000425000.1_Nonstop_Mutation_p.*456K|INTS6_ENST00000497989.1_Nonstop_Mutation_p.*710K	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN	integrator complex subunit 6	0					signal transduction (GO:0007165)|snRNA processing (GO:0016180)	actin cytoskeleton (GO:0015629)|integrator complex (GO:0032039)|nucleus (GO:0005634)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		ATTTTCTTTTAATTGCTATTA	0.318																																						ENST00000311234.4																			0				NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(2662-2664)Taa>Aaa		integrator complex subunit 6							74.0	74.0	74.0					13																	51939890		2199	4288	6487	SO:0001578	stop_lost	26512				snRNA processing	actin cytoskeleton|integrator complex	protein binding|transmembrane receptor activity	g.chr13:51939890A>T	AF097645	CCDS9428.1, CCDS41890.1, CCDS45048.1	13q14.3	2010-08-20	2006-03-15	2006-03-15	ENSG00000102786	ENSG00000102786		"""DEAD-boxes"""	14879	protein-coding gene	gene with protein product		604331	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26"""	DDX26		10467397, 16239144	Standard	XM_005266340		Approved	DICE1, HDB, Notchl2, DBI-1, DDX26A, INT6	uc001vfk.3	Q9UL03	OTTHUMG00000016945	ENST00000311234.4:c.2662T>A	13.37:g.51939890A>T						INTS6_ENST00000425000.1_Nonstop_Mutation_p.*456K|INTS6_ENST00000398119.2_Nonstop_Mutation_p.*875K|INTS6_ENST00000490542.1_Nonstop_Mutation_p.*572K|INTS6_ENST00000497989.1_Nonstop_Mutation_p.*710K	p.*888K	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN		GBM - Glioblastoma multiforme(99;7.7e-08)	18	3134	-		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)	0					Q0P664|Q6PJP4|Q9UFK0|Q9Y5M9	Nonstop_Mutation	SNP	ENST00000311234.4	37	c.2662T>A	CCDS9428.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.028748	0.75504	.	.	ENSG00000102786	ENST00000311234;ENST00000398119;ENST00000497989;ENST00000425000;ENST00000490542	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.745	0.69483	1.0:0.0:0.0:0.0	.	.	.	.	K	888;875;710;456;572	.	.	X	-	1	0	INTS6	50837891	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.409000	0.73289	2.080000	0.62538	0.455000	0.32223	TAA		0.318	INTS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045023.1	NM_012141		3	16	0	0	0	1	0	3	16				
CCDC88C	440193	broad.mit.edu	37	14	91779454	91779454	+	Silent	SNP	C	C	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr14:91779454C>A	ENST00000389857.6	-	15	2792	c.2706G>T	c.(2704-2706)gtG>gtT	p.V902V		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	902					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TCCTTGCATGCACGGTGACTT	0.617																																						ENST00000389857.6																			0				central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24						c.(2704-2706)gtG>gtT		coiled-coil domain containing 88C							116.0	114.0	115.0					14																	91779454		2124	4246	6370	SO:0001819	synonymous_variant	440193				microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association	g.chr14:91779454C>A		CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"""Dvl-associating protein with a high frequency of leucine residues"", ""spinocerebellar ataxia 40"""	611204	"""KIAA1509"""	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.2706G>T	14.37:g.91779454C>A							p.V902V	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN			15	2792	-		all_cancers(154;0.0468)	902					Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Silent	SNP	ENST00000389857.6	37	c.2706G>T	CCDS45151.1																																																																																				0.617	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	XM_029353		4	88	1	0	0.150653	1	0.15377	4	88				
SLC26A4	5172	broad.mit.edu	37	7	107315388	107315388	+	Splice_Site	SNP	A	A	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr7:107315388A>T	ENST00000265715.3	+	6	824		c.e6-1			NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4						chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TCCTTATCGTAGTTGATATTT	0.398									Pendred syndrome																													ENST00000265715.3																			0				central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						c.e6-1		solute carrier family 26 (anion exchanger), member 4							211.0	198.0	202.0					7																	107315388		2203	4300	6503	SO:0001630	splice_region_variant	5172	Pendred syndrome	Familial Cancer Database	Goiter-Deafness syndrome	regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity	g.chr7:107315388A>T	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"""Solute carriers"""	8818	protein-coding gene	gene with protein product	"""pendrin"""	605646	"""solute carrier family 26, member 4"""	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.601-1A>T	7.37:g.107315388A>T								NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN			6	824	+								B7Z266|O43170	Splice_Site	SNP	ENST00000265715.3	37		CCDS5746.1	.	.	.	.	.	.	.	.	.	.	A	19.28	3.797617	0.70567	.	.	ENSG00000091137	ENST00000265715	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7942	0.78398	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC26A4	107102624	1.000000	0.71417	0.995000	0.50966	0.749000	0.42624	8.456000	0.90359	2.135000	0.66039	0.528000	0.53228	.		0.398	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337148.1	NM_000441	Intron	5	137	0	0	0	1	0	5	137				
ARHGEF10L	55160	broad.mit.edu	37	1	17928647	17928647	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr1:17928647G>T	ENST00000361221.3	+	5	442	c.283G>T	c.(283-285)Gat>Tat	p.D95Y	ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.D95Y|ARHGEF10L_ENST00000375420.3_5'UTR|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.D95Y|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.D95Y	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	95						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		GAGCAATGGGGATGCAGCGGA	0.682																																						ENST00000361221.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(283-285)Gat>Tat		Rho guanine nucleotide exchange factor (GEF) 10-like							23.0	26.0	25.0					1																	17928647		2192	4291	6483	SO:0001583	missense	55160				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr1:17928647G>T	AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964		"""Rho guanine nucleotide exchange factors"""	25540	protein-coding gene	gene with protein product	"""GrinchGEF"""	612494				10997877, 16112081	Standard	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.283G>T	1.37:g.17928647G>T	ENSP00000355060:p.Asp95Tyr					ARHGEF10L_ENST00000375420.3_5'UTR|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.D95Y|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.D95Y|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.D95Y	p.D95Y	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)	5	442	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	95					B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Missense_Mutation	SNP	ENST00000361221.3	37	c.283G>T	CCDS182.1	.	.	.	.	.	.	.	.	.	.	G	12.26	1.884838	0.33255	.	.	ENSG00000074964	ENST00000361221;ENST00000452522;ENST00000434513;ENST00000375415	T;T;T;T	0.62941	0.18;0.14;-0.01;0.14	4.91	3.97	0.46021	.	0.434509	0.21850	N	0.068185	T	0.48021	0.1477	N	0.24115	0.695	0.80722	D	1	B;B;B;B	0.33212	0.402;0.402;0.156;0.097	B;B;B;B	0.32805	0.153;0.153;0.153;0.073	T	0.50617	-0.8807	10	0.66056	D	0.02	-2.0075	12.0843	0.53688	0.0:0.174:0.826:0.0	.	95;95;95;95	Q9HCE6-5;Q9HCE6-3;Q9HCE6-2;Q9HCE6	.;.;.;ARGAL_HUMAN	Y	95	ENSP00000355060:D95Y;ENSP00000399401:D95Y;ENSP00000394621:D95Y;ENSP00000364564:D95Y	ENSP00000355060:D95Y	D	+	1	0	ARHGEF10L	17801234	1.000000	0.71417	0.947000	0.38551	0.436000	0.31835	3.829000	0.55760	1.005000	0.39183	0.455000	0.32223	GAT		0.682	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007147.1	NM_018125		6	13	1	0	0.00116845	1	0.00125312	6	13				
JAK1	3716	broad.mit.edu	37	1	65310505	65310505	+	Missense_Mutation	SNP	T	T	C	rs530773982		TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr1:65310505T>C	ENST00000342505.4	-	16	2431	c.2183A>G	c.(2182-2184)gAc>gGc	p.D728G	JAK1_ENST00000465376.1_5'UTR	NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	728	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	ACACTCACTGTCGATGCCCTC	0.542			Mis		ALL								T|||	1	0.000199681	0.0	0.0	5008	,	,		19020	0.001		0.0	False		,,,				2504	0.0					ENST00000342505.4				Dom	yes		1	1p32.3-p31.3	3716	Mis	Janus kinase 1			L			ALL		0				breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						c.(2182-2184)gAc>gGc		Janus kinase 1							96.0	111.0	106.0					1																	65310505		2107	4222	6329	SO:0001583	missense	3716				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr1:65310505T>C	M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.2183A>G	1.37:g.65310505T>C	ENSP00000343204:p.Asp728Gly					JAK1_ENST00000465376.1_5'UTR	p.D728G	NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN		BRCA - Breast invasive adenocarcinoma(111;0.0485)	16	2431	-			728			Protein kinase 1.		Q59GQ2|Q9UD26	Missense_Mutation	SNP	ENST00000342505.4	37	c.2183A>G	CCDS41346.1	.	.	.	.	.	.	.	.	.	.	T	12.13	1.846161	0.32606	.	.	ENSG00000162434	ENST00000342505	T	0.77489	-1.1	5.0	5.0	0.66597	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.57844	0.2081	L	0.39692	1.235	0.48830	D	0.999718	B	0.21309	0.054	B	0.20955	0.032	T	0.57602	-0.7783	9	0.28530	T	0.3	-9.7751	14.8844	0.70557	0.0:0.0:0.0:1.0	.	728	P23458	JAK1_HUMAN	G	728	ENSP00000343204:D728G	ENSP00000343204:D728G	D	-	2	0	JAK1	65083093	0.996000	0.38824	0.855000	0.33649	0.645000	0.38454	2.676000	0.46883	2.112000	0.64535	0.460000	0.39030	GAC		0.542	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025791.1	NM_002227		3	44	0	0	0	1	0	3	44				
SGCE	8910	broad.mit.edu	37	7	94257637	94257637	+	Silent	SNP	T	T	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr7:94257637T>A	ENST00000265735.7	-	3	377	c.267A>T	c.(265-267)acA>acT	p.T89T	SGCE_ENST00000445866.2_Silent_p.T89T|SGCE_ENST00000428696.2_Silent_p.T89T|SGCE_ENST00000415788.2_Silent_p.T125T|SGCE_ENST00000447873.1_Silent_p.T89T|SGCE_ENST00000437425.2_Silent_p.T48T	NM_003919.2	NP_003910.1	O43556	SGCE_HUMAN	sarcoglycan, epsilon	89					cell-matrix adhesion (GO:0007160)|muscle organ development (GO:0007517)	cytoskeleton (GO:0005856)|dendrite membrane (GO:0032590)|dystrophin-associated glycoprotein complex (GO:0016010)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	14	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			CCATTAAATTTGTATTAAATG	0.383																																						ENST00000415788.2																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	14						c.(373-375)acA>acT		sarcoglycan, epsilon							73.0	69.0	70.0					7																	94257637		2203	4299	6502	SO:0001819	synonymous_variant	8910				cell-matrix adhesion|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma	calcium ion binding	g.chr7:94257637T>A	AF036364	CCDS5637.1, CCDS47642.1, CCDS47643.1, CCDS75634.1	7q21.3	2014-09-17			ENSG00000127990	ENSG00000127990			10808	protein-coding gene	gene with protein product		604149		DYT11		9475163, 9405466	Standard	NM_001099401		Approved		uc003unn.2	O43556	OTTHUMG00000022828	ENST00000265735.7:c.267A>T	7.37:g.94257637T>A						SGCE_ENST00000447873.1_Silent_p.T89T|SGCE_ENST00000445866.2_Silent_p.T89T|SGCE_ENST00000437425.2_Silent_p.T48T|SGCE_ENST00000265735.7_Silent_p.T89T|SGCE_ENST00000428696.2_Silent_p.T89T	p.T125T			O43556	SGCE_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		4	462	-	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		89					B2R8N2|D6W5Q8|E9PF60|G5E9K6|Q6L8P0|Q75MH8|Q8NFG8|Q8WW28	Silent	SNP	ENST00000265735.7	37	c.375A>T	CCDS5637.1																																																																																				0.383	SGCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255251.2			22	18	0	0	0	1	0	22	18				
COL25A1	84570	broad.mit.edu	37	4	109753571	109753571	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr4:109753571C>T	ENST00000399132.1	-	32	2205	c.1675G>A	c.(1675-1677)Gga>Aga	p.G559R	COL25A1_ENST00000399126.1_Missense_Mutation_p.G559R|COL25A1_ENST00000399127.1_Missense_Mutation_p.G571R	NM_198721.2	NP_942014.1			collagen, type XXV, alpha 1											NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CCATGGGGTCCCATAGGACCA	0.393																																						ENST00000399132.1																			0				NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49						c.(1675-1677)Gga>Aga		collagen, type XXV, alpha 1							57.0	55.0	56.0					4																	109753571		1817	4073	5890	SO:0001583	missense	84570					collagen|extracellular space	beta-amyloid binding|heparin binding	g.chr4:109753571C>T	AF293340	CCDS43258.1, CCDS43259.1, CCDS58922.1	4q25	2013-01-16			ENSG00000188517	ENSG00000188517		"""Collagens"""	18603	protein-coding gene	gene with protein product		610004				11927537	Standard	NM_001256074		Approved		uc003hze.2	Q9BXS0	OTTHUMG00000150039	ENST00000399132.1:c.1675G>A	4.37:g.109753571C>T	ENSP00000382083:p.Gly559Arg					COL25A1_ENST00000399126.1_Missense_Mutation_p.G559R|COL25A1_ENST00000399127.1_Missense_Mutation_p.G571R	p.G559R	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000173)	32	2205	-		Hepatocellular(203;0.217)	559						Missense_Mutation	SNP	ENST00000399132.1	37	c.1675G>A	CCDS43258.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.77|16.77	3.215867|3.215867	0.58452|0.58452	.|.	.|.	ENSG00000188517|ENSG00000188517	ENST00000443653|ENST00000399132;ENST00000333642;ENST00000401873;ENST00000399127;ENST00000399126	.|D;D;D	.|0.99537	.|-6.11;-5.77;-6.11	5.68|5.68	5.68|5.68	0.88126|0.88126	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.99832|0.99832	0.9924|0.9924	H|H	0.97962|0.97962	4.115|4.115	0.58432|0.58432	D|D	0.999991|0.999991	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;1.0	D|D	0.96949|0.96949	0.9693|0.9693	6|9	.|.	.|.	.|.	-7.6765|-7.6765	20.1325|20.1325	0.98004|0.98004	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|559;559	.|Q9BXS0-2;Q9BXS0	.|.;COPA1_HUMAN	E|R	486|559;561;540;571;559	.|ENSP00000382083:G559R;ENSP00000382078:G571R;ENSP00000382077:G559R	.|.	G|G	-|-	2|1	0|0	COL25A1|COL25A1	109973020|109973020	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	5.871000|5.871000	0.69628|0.69628	2.839000|2.839000	0.97877|0.97877	0.650000|0.650000	0.86243|0.86243	GGG|GGA		0.393	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315938.2	NM_032518		3	60	0	0	0	1	0	3	60				
PRSS3	5646	broad.mit.edu	37	9	33795585	33795585	+	Intron	SNP	T	T	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr9:33795585T>C	ENST00000361005.5	+	2	211				PRSS3_ENST00000379405.3_Missense_Mutation_p.L5P|PRSS3_ENST00000429677.3_Intron|PRSS3_ENST00000342836.4_Intron|RP11-133O22.6_ENST00000454429.2_RNA	NM_007343.3	NP_031369	P35030	TRY3_HUMAN	protease, serine, 3						cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|endothelial cell migration (GO:0043542)|innate immune response (GO:0045087)|proteolysis (GO:0006508)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13			LUSC - Lung squamous cell carcinoma(29;0.0176)			AATCCATTCCTGATCCTTGCC	0.572																																						ENST00000379405.3																			0				large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13						c.(13-15)cTg>cCg		protease, serine, 3							177.0	127.0	144.0					9																	33795585		2203	4300	6503	SO:0001627	intron_variant	5646				digestion|endothelial cell migration|zymogen activation	extracellular space	calcium ion binding|protein binding|serine-type endopeptidase activity|serine-type peptidase activity	g.chr9:33795585T>C		CCDS6545.1, CCDS47958.1, CCDS56570.1, CCDS56571.1	9p13	2010-05-07	2008-03-11		ENSG00000010438	ENSG00000010438	3.4.21.4	"""Serine peptidases / Serine peptidases"""	9486	protein-coding gene	gene with protein product	"""mesotrypsin"""	613578	"""protease, serine, 4 (trypsin 4, brain)"", ""protease, serine, 3 (mesotrypsin)"""	PRSS4		2326201, 8294000	Standard	NM_002771		Approved	TRY3, TRY4	uc003ztj.4	P35030	OTTHUMG00000019798	ENST00000361005.5:c.212-1056T>C	9.37:g.33795585T>C						PRSS3_ENST00000342836.4_Intron|PRSS3_ENST00000361005.5_Intron|PRSS3_ENST00000429677.3_Intron|RP11-133O22.6_ENST00000454429.2_RNA	p.L5P	NM_002771.3	NP_002762.2	P35030	TRY3_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0176)		1	53	+			0					A8CED1|A8CED3|A9Z1Y4|E7ES07|F8W7P3|P15951|Q15665|Q5VXV0|Q6ISJ4|Q9UQV3	Missense_Mutation	SNP	ENST00000361005.5	37	c.14T>C	CCDS47958.1	.	.	.	.	.	.	.	.	.	.	T	14.12	2.439840	0.43326	.	.	ENSG00000010438	ENST00000379405	D	0.89939	-2.59	3.85	3.85	0.44370	.	.	.	.	.	D	0.91676	0.7369	M	0.66297	2.02	0.80722	D	1	P	0.52316	0.952	P	0.59056	0.851	D	0.92050	0.5647	9	0.87932	D	0	.	10.9172	0.47144	0.0:0.0:0.0:1.0	.	5	P35030-3	.	P	5	ENSP00000368715:L5P	ENSP00000368715:L5P	L	+	2	0	PRSS3	33785585	1.000000	0.71417	0.990000	0.47175	0.027000	0.11550	5.575000	0.67430	1.539000	0.49286	0.254000	0.18369	CTG		0.572	PRSS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052121.1	NM_002771		3	46	0	0	0	1	0	3	46				
COBLL1	22837	broad.mit.edu	37	2	165551206	165551206	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr2:165551206A>G	ENST00000392717.2	-	13	2928	c.2924T>C	c.(2923-2925)cTg>cCg	p.L975P	COBLL1_ENST00000342193.4_Missense_Mutation_p.L937P|COBLL1_ENST00000375458.2_Missense_Mutation_p.L899P|COBLL1_ENST00000194871.6_Missense_Mutation_p.L1004P|COBLL1_ENST00000409184.3_Missense_Mutation_p.L937P			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	975						extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						TTTATTTGTCAGTTCTTTTGG	0.463																																						ENST00000375458.2																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						c.(2695-2697)cTg>cCg		cordon-bleu WH2 repeat protein-like 1							50.0	52.0	51.0					2																	165551206		2203	4300	6503	SO:0001583	missense	22837							g.chr2:165551206A>G	AB023194	CCDS2223.2, CCDS63045.1	2q24.3	2012-12-07	2012-12-07		ENSG00000082438	ENSG00000082438			23571	protein-coding gene	gene with protein product		610318	"""COBL-like 1"""				Standard	NM_001278458		Approved	KIAA0977	uc002ucp.3	Q53SF7	OTTHUMG00000074019	ENST00000392717.2:c.2924T>C	2.37:g.165551206A>G	ENSP00000376478:p.Leu975Pro					COBLL1_ENST00000194871.6_Missense_Mutation_p.L1004P|COBLL1_ENST00000409184.3_Missense_Mutation_p.L937P|COBLL1_ENST00000392717.2_Missense_Mutation_p.L975P|COBLL1_ENST00000342193.4_Missense_Mutation_p.L937P	p.L899P	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN			11	2917	-			975					A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Missense_Mutation	SNP	ENST00000392717.2	37	c.2696T>C		.	.	.	.	.	.	.	.	.	.	A	2.427	-0.331755	0.05314	.	.	ENSG00000082438	ENST00000375458;ENST00000342193;ENST00000409184;ENST00000392717;ENST00000194871	.	.	.	5.61	0.615	0.17608	.	0.824234	0.10661	N	0.648756	T	0.16811	0.0404	N	0.10809	0.05	0.22142	N	0.999331	B;B;B	0.16166	0.007;0.016;0.013	B;B;B	0.15870	0.006;0.009;0.014	T	0.24012	-1.0172	9	0.30078	T	0.28	-0.2854	4.4061	0.11409	0.5501:0.0:0.3098:0.1401	.	975;1004;937	Q53SF7;B7Z2P5;Q53SF7-2	COBL1_HUMAN;.;.	P	899;937;937;975;1004	.	ENSP00000194871:L1004P	L	-	2	0	COBLL1	165259452	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	-0.119000	0.10676	-0.118000	0.11851	0.533000	0.62120	CTG		0.463	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014900		3	113	0	0	0	1	0	3	113				
FOXN1	8456	broad.mit.edu	37	17	26864323	26864323	+	Missense_Mutation	SNP	G	G	A	rs528722201	byFrequency	TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr17:26864323G>A	ENST00000226247.2	+	8	1845	c.1816G>A	c.(1816-1818)Ggg>Agg	p.G606R	FOXN1_ENST00000579795.1_Missense_Mutation_p.G606R	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	606					defense response (GO:0006952)|epidermis development (GO:0008544)|epithelial cell proliferation (GO:0050673)|hair follicle development (GO:0001942)|keratinocyte differentiation (GO:0030216)|lymphocyte homeostasis (GO:0002260)|nail development (GO:0035878)|organ morphogenesis (GO:0009887)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					TGGTGGCTCCGGGGCACTGGG	0.682													G|||	2	0.000399361	0.0015	0.0	5008	,	,		16283	0.0		0.0	False		,,,				2504	0.0					ENST00000226247.2																			0				endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1816-1818)Ggg>Agg		forkhead box N1							34.0	36.0	35.0					17																	26864323		2203	4299	6502	SO:0001583	missense	8456				defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr17:26864323G>A	Y11739	CCDS11232.1	17q11-q12	2014-09-17	2003-06-12	2003-06-13	ENSG00000109101	ENSG00000109101		"""Forkhead boxes"""	12765	protein-coding gene	gene with protein product		600838	"""winged-helix nude"", ""Rowett nude"""	WHN, RONU		9321431	Standard	NM_003593		Approved	FKHL20	uc002hbj.3	O15353	OTTHUMG00000132603	ENST00000226247.2:c.1816G>A	17.37:g.26864323G>A	ENSP00000226247:p.Gly606Arg					FOXN1_ENST00000579795.1_Missense_Mutation_p.G606R	p.G606R	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN			8	1845	+	Lung NSC(42;0.00431)		606					B2R9Q7|O15352	Missense_Mutation	SNP	ENST00000226247.2	37	c.1816G>A	CCDS11232.1	.	.	.	.	.	.	.	.	.	.	G	10.29	1.310298	0.23821	.	.	ENSG00000109101	ENST00000226247	D	0.92545	-3.06	4.2	3.14	0.36123	.	0.363922	0.25161	N	0.032671	D	0.82995	0.5158	L	0.29908	0.895	0.09310	N	1	P	0.42584	0.784	B	0.35470	0.203	T	0.75252	-0.3383	10	0.35671	T	0.21	.	7.6327	0.28249	0.1486:0.1627:0.6887:0.0	.	606	O15353	FOXN1_HUMAN	R	606	ENSP00000226247:G606R	ENSP00000226247:G606R	G	+	1	0	FOXN1	23888450	0.168000	0.22989	0.889000	0.34880	0.413000	0.31143	2.904000	0.48719	2.128000	0.65567	0.462000	0.41574	GGG		0.682	FOXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255832.1			9	31	0	0	0	1	0	9	31				
TCF20	6942	broad.mit.edu	37	22	42606197	42606197	+	Silent	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr22:42606197G>A	ENST00000359486.3	-	1	5251	c.5115C>T	c.(5113-5115)tgC>tgT	p.C1705C	TCF20_ENST00000335626.4_Silent_p.C1705C|TCF20_ENST00000404876.1_Silent_p.C6C	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1705					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CACACAGACAGCAAACCAGGT	0.552																																						ENST00000359486.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						c.(5113-5115)tgC>tgT		transcription factor 20 (AR1)							68.0	68.0	68.0					22																	42606197		2203	4300	6503	SO:0001819	synonymous_variant	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42606197G>A	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.5115C>T	22.37:g.42606197G>A						TCF20_ENST00000335626.4_Silent_p.C1705C|TCF20_ENST00000404876.1_Silent_p.C6C	p.C1705C	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN			1	5251	-			1705					A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Silent	SNP	ENST00000359486.3	37	c.5115C>T	CCDS14033.1																																																																																				0.552	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		4	91	0	0	0	1	0	4	91				
GAPDH	2597	broad.mit.edu	37	12	6646512	6646512	+	Missense_Mutation	SNP	G	G	T	rs77154254		TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr12:6646512G>T	ENST00000229239.5	+	7	1147	c.481G>T	c.(481-483)Gcc>Tcc	p.A161S	GAPDH_ENST00000396859.1_Missense_Mutation_p.A161S|GAPDH_ENST00000396858.1_Missense_Mutation_p.A119S|GAPDH_ENST00000396856.1_Missense_Mutation_p.A86S|GAPDH_ENST00000396861.1_Missense_Mutation_p.A161S|RP5-940J5.9_ENST00000602946.1_RNA	NM_002046.4	NP_002037.2	P04406	G3P_HUMAN	glyceraldehyde-3-phosphate dehydrogenase	161					carbohydrate metabolic process (GO:0005975)|cellular response to interferon-gamma (GO:0071346)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of translation (GO:0017148)|neuron apoptotic process (GO:0051402)|peptidyl-cysteine S-trans-nitrosylation (GO:0035606)|protein stabilization (GO:0050821)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GAIT complex (GO:0097452)|lipid particle (GO:0005811)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)|vesicle (GO:0031982)	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity (GO:0004365)|identical protein binding (GO:0042802)|microtubule binding (GO:0008017)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|peptidyl-cysteine S-nitrosylase activity (GO:0035605)	p.A161S(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|lung(4)	7						AGCACCCCTGGCCAAGGTCAT	0.577																																						ENST00000229239.5																			1	Substitution - Missense(1)	p.A161S(1)	lung(1)	central_nervous_system(1)|cervix(1)|endometrium(1)|lung(4)	7						c.(481-483)Gcc>Tcc		glyceraldehyde-3-phosphate dehydrogenase	NADH(DB00157)						59.0	56.0	57.0					12																	6646512		2203	4300	6503	SO:0001583	missense	2597				gluconeogenesis|glycolysis|neuron apoptosis|peptidyl-cysteine S-trans-nitrosylation|protein stabilization	cytosol|membrane|nucleus|perinuclear region of cytoplasm	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|peptidyl-cysteine S-nitrosylase activity|protein binding	g.chr12:6646512G>T	AF261085	CCDS8549.1, CCDS58201.1	12p13.31	2012-10-02		2005-05-06	ENSG00000111640	ENSG00000111640	1.2.1.12		4141	protein-coding gene	gene with protein product		138400		GAPD		3170585	Standard	NM_002046		Approved		uc001qop.2	P04406	OTTHUMG00000137379	ENST00000229239.5:c.481G>T	12.37:g.6646512G>T	ENSP00000229239:p.Ala161Ser					GAPDH_ENST00000396861.1_Missense_Mutation_p.A161S|GAPDH_ENST00000396858.1_Missense_Mutation_p.A119S|GAPDH_ENST00000396859.1_Missense_Mutation_p.A161S|GAPDH_ENST00000396856.1_Missense_Mutation_p.A86S	p.A161S	NM_002046.4	NP_002037.2	P04406	G3P_HUMAN			7	1147	+			161					E7EUT4|P00354|Q53X65	Missense_Mutation	SNP	ENST00000229239.5	37	c.481G>T	CCDS8549.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.579859	0.86645	.	.	ENSG00000111640	ENST00000229239;ENST00000450282;ENST00000396856;ENST00000396861;ENST00000396859;ENST00000396858	T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76	4.62	4.62	0.57501	Glyceraldehyde 3-phosphate dehydrogenase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.78381	0.4274	H	0.97940	4.11	0.50632	D	0.99988	P;P;B;B;B	0.41524	0.753;0.753;0.159;0.019;0.008	P;P;B;B;B	0.55161	0.77;0.77;0.239;0.329;0.157	D	0.86197	0.1616	10	0.72032	D	0.01	.	17.6697	0.88213	0.0:0.0:1.0:0.0	.	119;136;161;86;161	E7EUT4;Q0QET7;Q2TSD0;E7EUT5;P04406	.;.;.;.;G3P_HUMAN	S	161;161;86;161;161;119	ENSP00000229239:A161S;ENSP00000380065:A86S;ENSP00000380070:A161S;ENSP00000380068:A161S;ENSP00000380067:A119S	ENSP00000229239:A161S	A	+	1	0	GAPDH	6516773	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.652000	0.83633	2.403000	0.81681	0.561000	0.74099	GCC		0.577	GAPDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268059.1	NM_002046		3	28	1	0	0.00024832	1	0.000272232	3	28				
WDTC1	23038	broad.mit.edu	37	1	27609919	27609919	+	Silent	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr1:27609919C>T	ENST00000319394.3	+	5	805	c.270C>T	c.(268-270)acC>acT	p.T90T	WDTC1_ENST00000361771.3_Silent_p.T90T	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	90					cellular chemical homeostasis (GO:0055082)|cellular response to insulin stimulus (GO:0032869)|glucose metabolic process (GO:0006006)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell size (GO:0008361)	cytosol (GO:0005829)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		CGGGACACACCGCAAATATCT	0.562																																						ENST00000319394.3																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21						c.(268-270)acC>acT		WD and tetratricopeptide repeats 1							88.0	73.0	78.0					1																	27609919		2203	4300	6503	SO:0001819	synonymous_variant	23038						protein binding	g.chr1:27609919C>T	AK023778	CCDS296.1, CCDS60044.1	1p35.3	2013-01-11			ENSG00000142784	ENSG00000142784		"""DDB1 and CUL4 associated factors"", ""WD repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29175	protein-coding gene	gene with protein product	"""adipose homolog (Drosophila)"", ""DDB1 and CUL4 associated factor 9"""					12717455, 19238144	Standard	NM_015023		Approved	KIAA1037, ADP, DCAF9	uc009vst.3	Q8N5D0	OTTHUMG00000004273	ENST00000319394.3:c.270C>T	1.37:g.27609919C>T						WDTC1_ENST00000361771.3_Silent_p.T90T	p.T90T	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)	5	805	+		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)	90					D3DPL5|Q5SSC5|Q9NV87|Q9UPW4	Silent	SNP	ENST00000319394.3	37	c.270C>T																																																																																					0.562	WDTC1-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015023		36	34	0	0	0	1	0	36	34				
OR9Q1	219956	broad.mit.edu	37	11	57947012	57947012	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr11:57947012A>T	ENST00000335397.3	+	3	412	c.96A>T	c.(94-96)ttA>ttT	p.L32F		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	32						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				TCTTGTTTTTATTTATGTATC	0.448																																						ENST00000335397.3																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(94-96)ttA>ttT		olfactory receptor, family 9, subfamily Q, member 1							209.0	198.0	202.0					11																	57947012		2201	4296	6497	SO:0001583	missense	219956				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57947012A>T	AB065734	CCDS31543.1	11q12.1	2012-08-09				ENSG00000186509		"""GPCR / Class A : Olfactory receptors"""	14724	protein-coding gene	gene with protein product							Standard	NM_001005212		Approved		uc001nmj.3	Q8NGQ5		ENST00000335397.3:c.96A>T	11.37:g.57947012A>T	ENSP00000334934:p.Leu32Phe						p.L32F	NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN			3	412	+		Breast(21;0.222)	32					Q2TAN3|Q96RA7	Missense_Mutation	SNP	ENST00000335397.3	37	c.96A>T	CCDS31543.1	.	.	.	.	.	.	.	.	.	.	A	10.69	1.422402	0.25639	.	.	ENSG00000186509	ENST00000335397	T	0.01804	4.63	4.75	-9.5	0.00584	.	0.000000	0.35555	N	0.003126	T	0.04815	0.0130	M	0.77820	2.39	0.18873	N	0.999987	D	0.71674	0.998	D	0.63113	0.911	T	0.18023	-1.0350	10	0.54805	T	0.06	-3.2934	7.7301	0.28781	0.1236:0.1588:0.5605:0.1571	.	32	Q8NGQ5	OR9Q1_HUMAN	F	32	ENSP00000334934:L32F	ENSP00000334934:L32F	L	+	3	2	OR9Q1	57703588	0.000000	0.05858	0.000000	0.03702	0.248000	0.25809	-4.246000	0.00267	-3.550000	0.00142	-0.376000	0.06991	TTA		0.448	OR9Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394538.2	NM_001005212		5	160	0	0	0	1	0	5	160				
HOXB3	3213	broad.mit.edu	37	17	46628327	46628327	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr17:46628327G>A	ENST00000470495.1	-	2	2112	c.665C>T	c.(664-666)gCc>gTc	p.A222V	HOXB3_ENST00000311626.4_Missense_Mutation_p.A222V|HOXB3_ENST00000498678.1_Missense_Mutation_p.A222V|HOXB3_ENST00000489475.1_Missense_Mutation_p.A149V|HOXB3_ENST00000485909.2_Missense_Mutation_p.A90V|HOXB3_ENST00000476342.1_Missense_Mutation_p.A222V|HOXB3_ENST00000472863.1_Missense_Mutation_p.A149V|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000490677.1_Missense_Mutation_p.A88V|HOXB-AS1_ENST00000435312.1_RNA|HOXB-AS1_ENST00000508688.1_RNA|HOXB3_ENST00000460160.1_Missense_Mutation_p.A90V|HOXB-AS3_ENST00000465846.2_RNA			P14651	HXB3_HUMAN	homeobox B3	222					angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|cartilage development (GO:0051216)|definitive hemopoiesis (GO:0060216)|embryonic skeletal system morphogenesis (GO:0048704)|face development (GO:0060324)|glossopharyngeal nerve morphogenesis (GO:0021615)|hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neurogenesis (GO:0050767)|rhombomere development (GO:0021546)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						CAGCAGGTTGGCCATCTCTAC	0.607																																						ENST00000470495.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						c.(664-666)gCc>gTc		homeobox B3							101.0	102.0	101.0					17																	46628327		2203	4300	6503	SO:0001583	missense	3213				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46628327G>A		CCDS11528.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120093	ENSG00000120093		"""Homeoboxes / ANTP class : HOXL subclass"""	5114	protein-coding gene	gene with protein product		142966	"""homeo box B3"""	HOX2, HOX2G		1973146, 1358459	Standard	XM_006721854		Approved		uc002ino.3	P14651	OTTHUMG00000159922	ENST00000470495.1:c.665C>T	17.37:g.46628327G>A	ENSP00000417207:p.Ala222Val					HOXB3_ENST00000489475.1_Missense_Mutation_p.A149V|HOXB-AS1_ENST00000508688.1_RNA|HOXB3_ENST00000485909.2_Missense_Mutation_p.A90V|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000498678.1_Missense_Mutation_p.A222V|HOXB3_ENST00000476342.1_Missense_Mutation_p.A222V|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000460160.1_Missense_Mutation_p.A90V|HOXB3_ENST00000472863.1_Missense_Mutation_p.A149V|HOXB3_ENST00000311626.4_Missense_Mutation_p.A222V|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000490677.1_Missense_Mutation_p.A88V	p.A222V			P14651	HXB3_HUMAN			2	2112	-			222					A8K567|B7Z5N8|B7Z5P8|B7ZAD0|D3DTV3|O95615|P17484	Missense_Mutation	SNP	ENST00000470495.1	37	c.665C>T	CCDS11528.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.599298	0.87055	.	.	ENSG00000120093	ENST00000470495;ENST00000472863;ENST00000311626;ENST00000498678;ENST00000490677;ENST00000460160;ENST00000485909;ENST00000489475;ENST00000476342	D;D;D;D;D;D;D;D;D	0.98362	-4.89;-4.89;-4.89;-4.89;-4.89;-4.89;-4.89;-4.89;-4.89	3.31	3.31	0.37934	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.98795	0.9594	M	0.93550	3.43	0.80722	D	1	P	0.48016	0.904	P	0.52758	0.708	D	0.99824	1.1049	10	0.87932	D	0	.	15.2207	0.73308	0.0:0.0:1.0:0.0	.	222	P14651	HXB3_HUMAN	V	222;149;222;222;88;90;90;149;222	ENSP00000417207:A222V;ENSP00000419676:A149V;ENSP00000308252:A222V;ENSP00000420595:A222V;ENSP00000449977:A88V;ENSP00000418035:A90V;ENSP00000438747:A90V;ENSP00000418729:A149V;ENSP00000418892:A222V	ENSP00000308252:A222V	A	-	2	0	HOXB3	43983326	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.945000	0.92985	1.880000	0.54463	0.644000	0.83932	GCC		0.607	HOXB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358261.1			4	69	0	0	0	1	0	4	69				
OR4Q3	441669	broad.mit.edu	37	14	20215690	20215690	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr14:20215690A>T	ENST00000331723.1	+	1	104	c.104A>T	c.(103-105)tAc>tTc	p.Y35F		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	35						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTGTTTTTTTACATTGCTATT	0.378																																						ENST00000331723.1																			0				NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47						c.(103-105)tAc>tTc		olfactory receptor, family 4, subfamily Q, member 3							169.0	173.0	172.0					14																	20215690		2203	4300	6503	SO:0001583	missense	441669				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20215690A>T	AF179768	CCDS32020.1	14p13	2012-08-09				ENSG00000182652		"""GPCR / Class A : Olfactory receptors"""	15426	protein-coding gene	gene with protein product				OR4Q4			Standard	NM_172194		Approved	C14orf13	uc010tkt.2	Q8NH05		ENST00000331723.1:c.104A>T	14.37:g.20215690A>T	ENSP00000330049:p.Tyr35Phe						p.Y35F	NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	104	+	all_cancers(95;0.00108)		35					Q6IEX4	Missense_Mutation	SNP	ENST00000331723.1	37	c.104A>T	CCDS32020.1	.	.	.	.	.	.	.	.	.	.	.	12.51	1.958973	0.34565	.	.	ENSG00000182652	ENST00000331723	T	0.04406	3.63	4.32	3.09	0.35607	.	0.000000	0.36591	U	0.002508	T	0.10637	0.0260	M	0.85542	2.76	0.27984	N	0.935927	P	0.46512	0.879	P	0.44518	0.452	T	0.06991	-1.0796	10	0.87932	D	0	.	8.4189	0.32687	0.8259:0.0:0.0:0.1741	.	35	Q8NH05	OR4Q3_HUMAN	F	35	ENSP00000330049:Y35F	ENSP00000330049:Y35F	Y	+	2	0	OR4Q3	19285530	0.740000	0.28207	0.136000	0.22124	0.867000	0.49689	1.606000	0.36826	1.814000	0.52955	0.416000	0.27883	TAC		0.378	OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409818.2			5	331	0	0	0	1	0	5	331				
VPS41	27072	broad.mit.edu	37	7	38816289	38816289	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr7:38816289G>A	ENST00000310301.4	-	11	926	c.872C>T	c.(871-873)tCa>tTa	p.S291L	VPS41_ENST00000466017.1_5'UTR|VPS41_ENST00000395969.2_Missense_Mutation_p.S266L	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	291					Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	cytosol (GO:0005829)|early endosome (GO:0005769)|Golgi-associated vesicle (GO:0005798)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						CGTTTTTTCTGAAATCTCCTT	0.403																																						ENST00000310301.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						c.(871-873)tCa>tTa		vacuolar protein sorting 41 homolog (S. cerevisiae)							84.0	75.0	78.0					7																	38816289		2203	4300	6503	SO:0001583	missense	27072				Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding	g.chr7:38816289G>A	U87309	CCDS5457.1, CCDS5458.2	7p14.1-p13	2009-05-08	2006-12-19		ENSG00000006715	ENSG00000006715			12713	protein-coding gene	gene with protein product		605485	"""vacuolar protein sorting 41 (yeast homolog)"", ""vacuolar protein sorting 41 (yeast)"""			9159129	Standard	NM_080631		Approved	HVSP41	uc003tgy.3	P49754	OTTHUMG00000023629	ENST00000310301.4:c.872C>T	7.37:g.38816289G>A	ENSP00000309457:p.Ser291Leu					VPS41_ENST00000466017.1_5'UTR|VPS41_ENST00000395969.2_Missense_Mutation_p.S266L	p.S291L	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN			11	926	-			291					E9PF36|Q86TP8|Q99851|Q99852	Missense_Mutation	SNP	ENST00000310301.4	37	c.872C>T	CCDS5457.1	.	.	.	.	.	.	.	.	.	.	G	17.29	3.350936	0.61183	.	.	ENSG00000006715	ENST00000310301;ENST00000395969	T;T	0.52526	0.66;0.66	6.06	5.17	0.71159	.	0.371341	0.31415	N	0.007690	T	0.38852	0.1056	L	0.42529	1.33	0.45979	D	0.998791	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.14392	-1.0474	10	0.37606	T	0.19	-5.7921	10.9195	0.47156	0.1387:0.0:0.8613:0.0	.	291;266;291	B2RB94;E9PF36;P49754	.;.;VPS41_HUMAN	L	291;266	ENSP00000309457:S291L;ENSP00000379297:S266L	ENSP00000309457:S291L	S	-	2	0	VPS41	38782814	1.000000	0.71417	0.986000	0.45419	0.988000	0.76386	4.508000	0.60441	2.882000	0.98803	0.655000	0.94253	TCA		0.403	VPS41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226986.3			8	19	0	0	0	1	0	8	19				
PCNT	5116	broad.mit.edu	37	21	47769001	47769001	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr21:47769001C>A	ENST00000359568.5	+	7	1215	c.1108C>A	c.(1108-1110)Caa>Aaa	p.Q370K	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	370	Glu-rich.				brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					TGCAAAGCATCAATCAGAAAT	0.343																																						ENST00000359568.5																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104						c.(1108-1110)Caa>Aaa		pericentrin							111.0	122.0	118.0					21																	47769001		2203	4300	6503	SO:0001583	missense	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47769001C>A	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.1108C>A	21.37:g.47769001C>A	ENSP00000352572:p.Gln370Lys					PCNT_ENST00000480896.1_3'UTR	p.Q370K	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN			7	1215	+	Breast(49;0.112)		370			Glu-rich.		O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	c.1108C>A	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	C	3.970	-0.008617	0.07727	.	.	ENSG00000160299	ENST00000359568;ENST00000337772	T	0.27256	1.68	5.79	5.79	0.91817	.	0.293184	0.18621	N	0.135848	T	0.15305	0.0369	N	0.17082	0.46	0.22156	N	0.999321	P;P	0.41673	0.759;0.647	B;B	0.38755	0.281;0.146	T	0.13548	-1.0505	10	0.08837	T	0.75	.	13.8757	0.63651	0.1517:0.8483:0.0:0.0	.	252;370	O95613-2;O95613	.;PCNT_HUMAN	K	370;357	ENSP00000352572:Q370K	ENSP00000338675:Q357K	Q	+	1	0	PCNT	46593429	0.854000	0.29725	0.493000	0.27502	0.129000	0.20672	1.638000	0.37165	2.746000	0.94184	0.638000	0.83543	CAA		0.343	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		10	184	1	0	0.000308642	1	0.000335875	10	184				
ZNF654	55279	broad.mit.edu	37	3	88189697	88189697	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr3:88189697A>G	ENST00000309495.5	+	1	1444	c.1237A>G	c.(1237-1239)Atg>Gtg	p.M413V	CGGBP1_ENST00000462901.1_Intron	NM_018293.2	NP_060763.2	Q8IZM8	ZN654_HUMAN	zinc finger protein 654	413					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3)	12		Lung NSC(201;0.0283)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		AGACCAAAAGATGCCTGACAT	0.343																																						ENST00000309495.5																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3)	12						c.(1237-1239)Atg>Gtg		zinc finger protein 654							70.0	72.0	71.0					3																	88189697		1858	4095	5953	SO:0001583	missense	55279				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:88189697A>G	AF543494	CCDS46874.1	3p11.1	2005-01-10			ENSG00000175105	ENSG00000175105			25612	protein-coding gene	gene with protein product							Standard	NM_018293		Approved	FLJ10997, FLJ21142	uc003dqv.3	Q8IZM8	OTTHUMG00000159097	ENST00000309495.5:c.1237A>G	3.37:g.88189697A>G	ENSP00000312141:p.Met413Val					CGGBP1_ENST00000462901.1_Intron	p.M413V	NM_018293.2	NP_060763.2	Q8IZM8	ZN654_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)	1	1444	+		Lung NSC(201;0.0283)	413					Q9H791|Q9NV14	Missense_Mutation	SNP	ENST00000309495.5	37	c.1237A>G	CCDS46874.1	.	.	.	.	.	.	.	.	.	.	A	3.262	-0.150941	0.06585	.	.	ENSG00000175105	ENST00000309495	T	0.09073	3.02	5.44	2.91	0.33838	.	.	.	.	.	T	0.07863	0.0197	L	0.44542	1.39	0.26244	N	0.978827	B	0.20887	0.049	B	0.22386	0.039	T	0.42085	-0.9472	9	0.13108	T	0.6	.	9.8667	0.41148	0.7271:0.0:0.0:0.2729	.	413	Q8IZM8	ZN654_HUMAN	V	413	ENSP00000312141:M413V	ENSP00000312141:M413V	M	+	1	0	ZNF654	88272387	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.734000	0.47368	0.294000	0.22547	0.482000	0.46254	ATG		0.343	ZNF654-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353285.2	NM_018293		21	39	0	0	0	1	0	21	39				
PRRC2A	7916	broad.mit.edu	37	6	31599818	31599818	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr6:31599818A>C	ENST00000376033.2	+	16	3602	c.3368A>C	c.(3367-3369)gAg>gCg	p.E1123A	PRRC2A_ENST00000376007.4_Missense_Mutation_p.E1123A	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1123	4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						TCAGACAAGGAGGCTCCCACA	0.647																																						ENST00000376033.2																			0				breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						c.(3367-3369)gAg>gCg		proline-rich coiled-coil 2A							44.0	57.0	52.0					6																	31599818		1509	2709	4218	SO:0001583	missense	7916					cytoplasm|nucleus	protein binding	g.chr6:31599818A>C	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"""HLA-B associated transcript 2"""	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.3368A>C	6.37:g.31599818A>C	ENSP00000365201:p.Glu1123Ala					PRRC2A_ENST00000376007.4_Missense_Mutation_p.E1123A	p.E1123A	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN			16	3602	+			1123			4 X 57 AA type A repeats.		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	ENST00000376033.2	37	c.3368A>C	CCDS4708.1	.	.	.	.	.	.	.	.	.	.	A	12.13	1.845335	0.32606	.	.	ENSG00000204469	ENST00000376007;ENST00000376033;ENST00000376010	T;T	0.01998	4.51;4.51	5.29	5.29	0.74685	.	0.000000	0.56097	D	0.000022	T	0.04137	0.0115	L	0.42245	1.32	0.58432	D	0.99999	D	0.76494	0.999	D	0.63793	0.918	T	0.45293	-0.9271	10	0.87932	D	0	-18.0605	14.3437	0.66646	1.0:0.0:0.0:0.0	.	1123	P48634	PRC2A_HUMAN	A	1123;1123;348	ENSP00000365175:E1123A;ENSP00000365201:E1123A	ENSP00000365175:E1123A	E	+	2	0	PRRC2A	31707797	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	4.582000	0.60957	2.228000	0.72767	0.533000	0.62120	GAG		0.647	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		8	28	0	0	0	1	0	8	28				
BRD8	10902	broad.mit.edu	37	5	137480910	137480910	+	Silent	SNP	A	A	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr5:137480910A>G	ENST00000254900.5	-	25	3764	c.3393T>C	c.(3391-3393)ccT>ccC	p.P1131P		NM_139199.1	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	1131	Bromo 2. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cell surface receptor signaling pathway (GO:0007166)|chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|intracellular receptor signaling pathway (GO:0030522)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TTTCTGACACAGGCTTCAGAA	0.463																																						ENST00000254900.5																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35						c.(3391-3393)ccT>ccC		bromodomain containing 8							170.0	155.0	160.0					5																	137480910		2203	4300	6503	SO:0001819	synonymous_variant	10902				cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity	g.chr5:137480910A>G	AF016270	CCDS4198.1, CCDS34241.1, CCDS54907.1	5q31	2008-02-05			ENSG00000112983	ENSG00000112983			19874	protein-coding gene	gene with protein product		602848				8611617, 9368056	Standard	NM_001164326		Approved	SMAP, p120	uc003lcf.1	Q9H0E9	OTTHUMG00000129204	ENST00000254900.5:c.3393T>C	5.37:g.137480910A>G							p.P1131P	NM_139199.1	NP_631938.1	Q9H0E9	BRD8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		25	3764	-			1131			Bromo 2.		O43178|Q15355|Q58AB0|Q59GN0|Q969M9	Silent	SNP	ENST00000254900.5	37	c.3393T>C	CCDS4198.1																																																																																				0.463	BRD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251282.3	NM_006696		4	232	0	0	0	1	0	4	232				
MLX	6945	broad.mit.edu	37	17	40722038	40722038	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr17:40722038C>A	ENST00000246912.4	+	7	730	c.677C>A	c.(676-678)cCc>cAc	p.P226H	MLX_ENST00000346833.4_Missense_Mutation_p.P142H|MLX_ENST00000435881.2_Missense_Mutation_p.P172H	NM_170607.2	NP_733752.1	Q9UH92	MLX_HUMAN	MLX, MAX dimerization protein	226					energy reserve metabolic process (GO:0006112)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|positive regulation of cellular metabolic process (GO:0031325)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			kidney(3)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	10		all_cancers(22;4.26e-05)|Breast(137;0.000153)|all_epithelial(22;0.00148)		BRCA - Breast invasive adenocarcinoma(366;0.129)		CAGGACAACCCCCATGAAGGG	0.542																																					GBM(121;657 1601 4665 24731 34640)	ENST00000246912.4																			0				kidney(3)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	10						c.(676-678)cCc>cAc		MLX, MAX dimerization protein							121.0	103.0	109.0					17																	40722038		2203	4300	6503	SO:0001583	missense	6945				energy reserve metabolic process|negative regulation of transcription, DNA-dependent|positive regulation of cellular metabolic process	cytoplasm|nucleus	DNA binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr17:40722038C>A	AF213668	CCDS11430.1, CCDS42341.1, CCDS45687.1	17q21.1	2013-05-21	2012-11-15	2005-02-11		ENSG00000108788		"""MAX dimerization proteins"", ""Basic helix-loop-helix proteins"""	11645	protein-coding gene	gene with protein product		602976	"""transcription factor-like 4"", ""MAX-like protein X"""	TCFL4		8973301	Standard	NM_170607		Approved	MAD7, MXD7, bHLHd13	uc002iag.3	Q9UH92		ENST00000246912.4:c.677C>A	17.37:g.40722038C>A	ENSP00000246912:p.Pro226His					MLX_ENST00000435881.2_Missense_Mutation_p.P172H|MLX_ENST00000346833.4_Missense_Mutation_p.P142H	p.P226H	NM_170607.2	NP_733752.1	Q9UH92	MLX_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.129)	7	730	+		all_cancers(22;4.26e-05)|Breast(137;0.000153)|all_epithelial(22;0.00148)	226					A8K2J3|B2RAV8|B2RD73|Q53XM6|Q96FL2|Q9H2V0|Q9H2V1|Q9H2V2|Q9NXN3	Missense_Mutation	SNP	ENST00000246912.4	37	c.677C>A	CCDS11430.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.245346	0.80024	.	.	ENSG00000108788	ENST00000346833;ENST00000246912;ENST00000435881	T;T;T	0.80653	-1.06;-1.4;-1.1	5.72	4.75	0.60458	.	0.048609	0.85682	D	0.000000	D	0.87676	0.6237	M	0.75085	2.285	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.998	D;P;D	0.70935	0.971;0.848;0.959	D	0.88131	0.2838	10	0.62326	D	0.03	-10.238	10.7068	0.45960	0.0:0.855:0.0:0.145	.	142;226;172	Q9UH92-2;Q9UH92;Q9UH92-3	.;MLX_HUMAN;.	H	142;226;172	ENSP00000320913:P142H;ENSP00000246912:P226H;ENSP00000416627:P172H	ENSP00000246912:P226H	P	+	2	0	MLX	37975564	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.969000	0.63735	1.428000	0.47296	0.561000	0.74099	CCC		0.542	MLX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450415.1	NM_170607		86	333	1	0	5.84261e-33	1	7.08776e-33	86	333				
MPHOSPH10	10199	broad.mit.edu	37	2	71368393	71368393	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr2:71368393C>G	ENST00000244230.2	+	7	1692	c.1340C>G	c.(1339-1341)cCt>cGt	p.P447R		NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN	M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)	447					negative regulation of phosphatase activity (GO:0010923)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|rRNA processing (GO:0006364)	chromosome (GO:0005694)|nucleolus (GO:0005730)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						AAAGAAAAACCTAAAGAGGAT	0.338																																						ENST00000244230.2																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						c.(1339-1341)cCt>cGt		M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)							145.0	156.0	152.0					2																	71368393		2203	4300	6503	SO:0001583	missense	10199				RNA splicing, via transesterification reactions|rRNA processing	chromosome|nucleolus|small nucleolar ribonucleoprotein complex	protein binding	g.chr2:71368393C>G	X98494	CCDS1916.1	2p13.3	2014-06-12			ENSG00000124383	ENSG00000124383			7213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 106"""	605503				8885239, 9450966	Standard	NM_005791		Approved	MPP10, MPP10P, CT90, PPP1R106	uc002sht.2	O00566	OTTHUMG00000129715	ENST00000244230.2:c.1340C>G	2.37:g.71368393C>G	ENSP00000244230:p.Pro447Arg						p.P447R	NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN			7	1692	+			447					A0AVJ8	Missense_Mutation	SNP	ENST00000244230.2	37	c.1340C>G	CCDS1916.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.415852	0.83449	.	.	ENSG00000124383	ENST00000244230;ENST00000425650	T;T	0.10573	2.86;2.86	5.52	5.52	0.82312	.	0.106900	0.64402	D	0.000004	T	0.40839	0.1133	M	0.91038	3.17	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.38520	-0.9657	10	0.20046	T	0.44	.	17.3088	0.87202	0.0:1.0:0.0:0.0	.	447	O00566	MPP10_HUMAN	R	447;307	ENSP00000244230:P447R;ENSP00000393034:P307R	ENSP00000244230:P447R	P	+	2	0	MPHOSPH10	71221901	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	7.021000	0.76425	2.769000	0.95229	0.491000	0.48974	CCT		0.338	MPHOSPH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251924.2	NM_005791		54	100	0	0	0	1	0	54	100				
NUP210L	91181	broad.mit.edu	37	1	154027278	154027278	+	Nonsense_Mutation	SNP	T	T	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr1:154027278T>A	ENST00000368559.3	-	24	3342	c.3271A>T	c.(3271-3273)Aaa>Taa	p.K1091*	NUP210L_ENST00000368553.1_Nonsense_Mutation_p.K24*|NUP210L_ENST00000271854.3_Nonsense_Mutation_p.K1091*	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1091					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			AGTGTCATTTTCTCTGGAAGA	0.368																																						ENST00000368559.3																			0				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80						c.(3271-3273)Aaa>Taa		nucleoporin 210kDa-like							107.0	102.0	104.0					1																	154027278		1861	4107	5968	SO:0001587	stop_gained	91181					integral to membrane		g.chr1:154027278T>A	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.3271A>T	1.37:g.154027278T>A	ENSP00000357547:p.Lys1091*					NUP210L_ENST00000368553.1_Nonsense_Mutation_p.K24*|NUP210L_ENST00000271854.3_Nonsense_Mutation_p.K1091*	p.K1091*	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		24	3342	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		1091					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Nonsense_Mutation	SNP	ENST00000368559.3	37	c.3271A>T	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	T	28.2	4.897836	0.91962	.	.	ENSG00000143552	ENST00000368559;ENST00000368553;ENST00000271854	.	.	.	4.83	4.83	0.62350	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.7368	12.7933	0.57547	0.0:0.0:0.0:1.0	.	.	.	.	X	1091;24;1091	.	ENSP00000271854:K1091X	K	-	1	0	NUP210L	152293902	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.873000	0.63057	2.035000	0.60131	0.528000	0.53228	AAA		0.368	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		22	43	0	0	0	1	0	22	43				
LAD1	3898	broad.mit.edu	37	1	201354881	201354881	+	Missense_Mutation	SNP	C	C	A	rs143101113		TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr1:201354881C>A	ENST00000391967.2	-	4	1380	c.1079G>T	c.(1078-1080)cGa>cTa	p.R360L	LAD1_ENST00000367313.3_Missense_Mutation_p.R374L|LAD1_ENST00000488842.1_5'Flank	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	360						basement membrane (GO:0005604)	structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						GCTGTAGGTTCGCTGTGTGGG	0.597											OREG0014078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000391967.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						c.(1078-1080)cGa>cTa		ladinin 1							248.0	208.0	221.0					1																	201354881		2203	4300	6503	SO:0001583	missense	3898					basement membrane	structural molecule activity	g.chr1:201354881C>A	U42408	CCDS1410.1	1q25.1-q32.3	2008-02-05			ENSG00000159166	ENSG00000159166			6472	protein-coding gene	gene with protein product		602314				8618013, 9119369	Standard	NM_005558		Approved		uc001gwm.3	O00515	OTTHUMG00000035737	ENST00000391967.2:c.1079G>T	1.37:g.201354881C>A	ENSP00000375829:p.Arg360Leu		OREG0014078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2121	LAD1_ENST00000367313.3_Missense_Mutation_p.R374L	p.R360L	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN			4	1380	-			360					O95614|Q96GD8	Missense_Mutation	SNP	ENST00000391967.2	37	c.1079G>T	CCDS1410.1	.	.	.	.	.	.	.	.	.	.	C	9.158	1.017914	0.19355	.	.	ENSG00000159166	ENST00000503578;ENST00000391967;ENST00000367313	T;T;T	0.41065	1.01;2.79;2.79	5.46	1.86	0.25419	.	2.236220	0.01801	N	0.032900	T	0.24275	0.0588	N	0.08118	0	0.25256	N	0.989636	B;B	0.10296	0.003;0.0	B;B	0.09377	0.004;0.001	T	0.15065	-1.0450	10	0.27082	T	0.32	-1.9959	4.989	0.14205	0.2853:0.5566:0.1581:0.0	.	374;360	E9PDI4;O00515	.;LAD1_HUMAN	L	11;360;374	ENSP00000422687:R11L;ENSP00000375829:R360L;ENSP00000356282:R374L	ENSP00000356282:R374L	R	-	2	0	LAD1	199621504	0.050000	0.20438	0.696000	0.30242	0.785000	0.44390	0.120000	0.15647	0.477000	0.27464	0.591000	0.81541	CGA		0.597	LAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086946.1	NM_005558		8	46	1	0	9.70103e-10	1	1.15786e-09	8	46				
HPS5	11234	broad.mit.edu	37	11	18318399	18318399	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr11:18318399A>G	ENST00000349215.3	-	12	1733	c.1456T>C	c.(1456-1458)Tca>Cca	p.S486P	HPS5_ENST00000396253.3_Missense_Mutation_p.S372P|HPS5_ENST00000438420.2_Missense_Mutation_p.S372P|HPS5_ENST00000352460.3_5'Flank|HPS5_ENST00000531848.1_Missense_Mutation_p.S372P	NM_181507.1	NP_852608.1	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	486					blood coagulation (GO:0007596)|organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TCCTGCTGTGAGGTGAATTCT	0.448									Hermansky-Pudlak syndrome																													ENST00000396253.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(1114-1116)Tca>Cca		Hermansky-Pudlak syndrome 5							209.0	193.0	199.0					11																	18318399		2199	4293	6492	SO:0001583	missense	11234	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8		cytosol		g.chr11:18318399A>G	AB023234	CCDS7836.1, CCDS7837.1	11p14	2014-06-18			ENSG00000110756	ENSG00000110756			17022	protein-coding gene	gene with protein product		607521				10231032, 10094488	Standard	NM_181507		Approved		uc001mod.1	Q9UPZ3	OTTHUMG00000166612	ENST00000349215.3:c.1456T>C	11.37:g.18318399A>G	ENSP00000265967:p.Ser486Pro					HPS5_ENST00000438420.2_Missense_Mutation_p.S372P|HPS5_ENST00000349215.3_Missense_Mutation_p.S486P|HPS5_ENST00000531848.1_Missense_Mutation_p.S372P	p.S372P	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN			11	1576	-			486					A8K6J8|A8K8S1|D3DQX9|D3DQY0|O95942|Q8N4U0	Missense_Mutation	SNP	ENST00000349215.3	37	c.1114T>C	CCDS7836.1	.	.	.	.	.	.	.	.	.	.	A	10.44	1.350122	0.24512	.	.	ENSG00000110756	ENST00000396253;ENST00000438420;ENST00000349215;ENST00000531848	T;T;T;T	0.56444	0.46;0.46;0.46;1.46	5.71	4.52	0.55395	.	0.637256	0.17082	N	0.187750	T	0.38772	0.1053	L	0.36672	1.1	0.09310	N	0.999999	P	0.37708	0.606	B	0.34824	0.19	T	0.21930	-1.0231	10	0.30854	T	0.27	.	9.0548	0.36399	0.7321:0.164:0.0:0.1039	.	486	Q9UPZ3	HPS5_HUMAN	P	372;372;486;372	ENSP00000379552:S372P;ENSP00000399590:S372P;ENSP00000265967:S486P;ENSP00000431758:S372P	ENSP00000265967:S486P	S	-	1	0	HPS5	18274975	0.984000	0.35163	0.903000	0.35520	0.886000	0.51366	2.537000	0.45702	2.182000	0.69389	0.460000	0.39030	TCA		0.448	HPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390808.1	NM_181507		6	489	0	0	0	1	0	6	489				
ADCY8	114	broad.mit.edu	37	8	131896886	131896886	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr8:131896886C>T	ENST00000286355.5	-	8	4125	c.2033G>A	c.(2032-2034)cGg>cAg	p.R678Q	ADCY8_ENST00000377928.3_Missense_Mutation_p.R678Q	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	678					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			ATCGCCACTCCGCAAGTCGAT	0.458										HNSCC(32;0.087)																												ENST00000286355.5																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(2032-2034)cGg>cAg		adenylate cyclase 8 (brain)							140.0	133.0	135.0					8																	131896886		2203	4300	6503	SO:0001583	missense	114				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:131896886C>T	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.2033G>A	8.37:g.131896886C>T	ENSP00000286355:p.Arg678Gln	HNSCC(32;0.087)				ADCY8_ENST00000377928.3_Missense_Mutation_p.R678Q	p.R678Q	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		8	4125	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		678						Missense_Mutation	SNP	ENST00000286355.5	37	c.2033G>A	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.793944	0.90453	.	.	ENSG00000155897	ENST00000286355;ENST00000377928	T;T	0.78707	-1.2;-1.2	5.98	5.98	0.97165	.	0.054567	0.85682	D	0.000000	D	0.87301	0.6143	M	0.68952	2.095	0.54753	D	0.999983	D;P	0.71674	0.998;0.836	D;B	0.79108	0.992;0.106	D	0.84783	0.0774	10	0.37606	T	0.19	.	19.5094	0.95135	0.0:1.0:0.0:0.0	.	678;678	E7EVL1;P40145	.;ADCY8_HUMAN	Q	678	ENSP00000286355:R678Q;ENSP00000367161:R678Q	ENSP00000286355:R678Q	R	-	2	0	ADCY8	131966068	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.319000	0.79040	2.861000	0.98227	0.650000	0.86243	CGG		0.458	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			20	53	0	0	0	1	0	20	53				
ZCCHC2	54877	broad.mit.edu	37	18	60241796	60241796	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr18:60241796A>G	ENST00000269499.5	+	13	2900	c.2482A>G	c.(2482-2484)Aca>Gca	p.T828A	ZCCHC2_ENST00000586834.1_Missense_Mutation_p.T507A	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	828						cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						TGAGAGCTGCACAGTTAACAT	0.498																																						ENST00000269499.5																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(2482-2484)Aca>Gca		zinc finger, CCHC domain containing 2							121.0	124.0	123.0					18																	60241796		2107	4236	6343	SO:0001583	missense	54877				cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding	g.chr18:60241796A>G	AB051531	CCDS45880.1	18q21.33	2012-04-19			ENSG00000141664	ENSG00000141664		"""Zinc fingers, CCHC domain containing"""	22916	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 49"""	C18orf49		11214970	Standard	NM_017742		Approved	FLJ20281, KIAA1744, FLJ20222	uc002lip.4	Q9C0B9		ENST00000269499.5:c.2482A>G	18.37:g.60241796A>G	ENSP00000269499:p.Thr828Ala					ZCCHC2_ENST00000586834.1_Missense_Mutation_p.T507A	p.T828A	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN			13	2900	+			828					B2RPG6|Q8N3S1|Q9NXF6	Missense_Mutation	SNP	ENST00000269499.5	37	c.2482A>G	CCDS45880.1	.	.	.	.	.	.	.	.	.	.	A	10.35	1.325639	0.24080	.	.	ENSG00000141664	ENST00000269499	T	0.25414	1.8	5.69	-4.88	0.03113	.	0.677026	0.14950	N	0.288970	T	0.09949	0.0244	N	0.14661	0.345	0.22541	N	0.999008	B	0.06786	0.001	B	0.04013	0.001	T	0.36866	-0.9730	10	0.13108	T	0.6	-0.944	7.7811	0.29066	0.334:0.4214:0.2445:0.0	.	828	Q9C0B9	ZCHC2_HUMAN	A	828	ENSP00000269499:T828A	ENSP00000269499:T828A	T	+	1	0	ZCCHC2	58392776	0.289000	0.24334	0.222000	0.23844	0.984000	0.73092	0.186000	0.16978	-0.420000	0.07427	0.533000	0.62120	ACA		0.498	ZCCHC2-005	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450083.1	NM_017742		31	75	0	0	0	1	0	31	75				
KIF18B	146909	broad.mit.edu	37	17	43009011	43009011	+	Silent	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr17:43009011G>A	ENST00000593135.1	-	11	1573	c.1476C>T	c.(1474-1476)ggC>ggT	p.G492G	KIF18B_ENST00000339151.4_Silent_p.G504G|KIF18B_ENST00000590129.1_Silent_p.G513G|KIF18B_ENST00000438933.2_Silent_p.G504G|KIF18B_ENST00000587309.1_Silent_p.G504G	NM_001265577.1	NP_001252506.1	Q86Y91	KI18B_HUMAN	kinesin family member 18B	513					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|regulation of cell division (GO:0051302)	astral microtubule (GO:0000235)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule plus-end (GO:0035371)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				CTGAGAAGTGGCCCACGACTG	0.572																																						ENST00000587309.1																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21						c.(1510-1512)ggC>ggT		kinesin family member 18B							95.0	100.0	99.0					17																	43009011		2006	4179	6185	SO:0001819	synonymous_variant	146909							g.chr17:43009011G>A		CCDS45709.1, CCDS58555.1, CCDS45709.2	17q21.31	2014-09-04			ENSG00000186185			"""Kinesins"""	27102	protein-coding gene	gene with protein product		614570				16084724	Standard	NM_001264573		Approved		uc010wjh.3	Q86Y91	OTTHUMG00000179867	ENST00000593135.1:c.1476C>T	17.37:g.43009011G>A						KIF18B_ENST00000590129.1_Silent_p.G513G|KIF18B_ENST00000438933.2_Silent_p.G504G|KIF18B_ENST00000339151.4_Silent_p.G504G|KIF18B_ENST00000593135.1_Silent_p.G492G	p.G504G	NM_001264573.1	NP_001251503.1					11	1535	-		Prostate(33;0.155)						A6NJI2|B7ZM49|B9EGM8|D5L6I1	Silent	SNP	ENST00000593135.1	37	c.1512C>T	CCDS45709.2																																																																																				0.572	KIF18B-001	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000448724.1	NM_001080443		3	49	0	0	0	1	0	3	49				
THOC5	8563	broad.mit.edu	37	22	29924416	29924416	+	Splice_Site	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr22:29924416G>A	ENST00000490103.1	-	10	1087	c.965C>T	c.(964-966)aCg>aTg	p.T322M	THOC5_ENST00000397873.2_Splice_Site_p.T322M|THOC5_ENST00000397871.1_Splice_Site_p.T322M|THOC5_ENST00000397872.1_Splice_Site_p.T322M|CTA-256D12.11_ENST00000411969.1_RNA	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5	322					blastocyst development (GO:0001824)|cell morphogenesis (GO:0000902)|monocyte differentiation (GO:0030224)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of macrophage differentiation (GO:0045650)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|primitive hemopoiesis (GO:0060215)|regulation of mRNA export from nucleus (GO:0010793)|regulation of stem cell division (GO:2000035)|RNA splicing (GO:0008380)|stem cell division (GO:0017145)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	mRNA binding (GO:0003729)			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GGTTCTCACCGTAGTCTGCTC	0.567																																						ENST00000490103.1																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.e10+1		THO complex 5							150.0	132.0	138.0					22																	29924416		2203	4300	6503	SO:0001630	splice_region_variant	8563				intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding	g.chr22:29924416G>A	AB023200	CCDS13859.1	22q12	2013-02-11			ENSG00000100296	ENSG00000100296		"""THO complex subunits"""	19074	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 79"""	612733	"""chromosome 22 open reading frame 19"""	C22orf19		11979277, 8242058, 10231032, 19015024, 18373705	Standard	NM_003678		Approved	PK1.3, KIAA0983, Fmip, fSAP79	uc003afs.3	Q13769	OTTHUMG00000151291	ENST00000490103.1:c.966+1C>T	22.37:g.29924416G>A						CTA-256D12.11_ENST00000411969.1_RNA|THOC5_ENST00000397871.1_Splice_Site_p.T322_splice|THOC5_ENST00000397872.1_Splice_Site_p.T322_splice|THOC5_ENST00000397873.2_Splice_Site_p.T322_splice	p.T322_splice	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN			10	1087	-			322					O60839|Q9UPZ5	Splice_Site	SNP	ENST00000490103.1	37	c.966_splice	CCDS13859.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.655702	0.88056	.	.	ENSG00000100296	ENST00000490103;ENST00000397872;ENST00000397871;ENST00000397873	T;T;T;T	0.25250	1.81;1.81;1.81;1.81	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.48857	0.1523	M	0.62723	1.935	0.80722	D	1	D	0.76494	0.999	D	0.68621	0.959	T	0.40590	-0.9555	10	0.46703	T	0.11	-11.5754	18.5692	0.91129	0.0:0.0:1.0:0.0	.	322	Q13769	THOC5_HUMAN	M	322	ENSP00000420306:T322M;ENSP00000380970:T322M;ENSP00000380969:T322M;ENSP00000380971:T322M	ENSP00000380969:T322M	T	-	2	0	THOC5	28254416	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	8.080000	0.89510	2.622000	0.88805	0.563000	0.77884	ACG		0.567	THOC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322097.1	NM_003678	Missense_Mutation	5	120	0	0	0	1	0	5	120				
C1QBP	708	broad.mit.edu	37	17	5335874	5335874	+	IGR	SNP	T	T	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr17:5335874T>C	ENST00000225698.4	-	0	1169				CTC-524C5.2_ENST00000575890.1_RNA|RPAIN_ENST00000327154.6_Silent_p.L146L|RPAIN_ENST00000381208.5_Missense_Mutation_p.W168R|RPAIN_ENST00000536255.2_3'UTR|RPAIN_ENST00000381209.3_Missense_Mutation_p.W215R	NM_001212.3	NP_001203.1	Q07021	C1QBP_HUMAN	complement component 1, q subcomponent binding protein						apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)|mature ribosome assembly (GO:0042256)|mRNA processing (GO:0006397)|negative regulation of defense response to virus (GO:0050687)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of MDA-5 signaling pathway (GO:0039534)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of mitochondrial translation (GO:0070131)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of trophoblast cell migration (GO:1901165)|regulation of complement activation (GO:0030449)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	adrenergic receptor binding (GO:0031690)|complement component C1q binding (GO:0001849)|hyaluronic acid binding (GO:0005540)|kininogen binding (GO:0030984)|mitochondrial ribosome binding (GO:0097177)|mRNA binding (GO:0003729)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			lung(2)|ovary(1)	3					Hyaluronan(DB08818)	CTGTGATACTTGGGCTGTGAT	0.378																																						ENST00000381209.3																			0				breast(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)	6						c.(643-645)Tgg>Cgg		RPA interacting protein							144.0	138.0	140.0					17																	5335874		2203	4300	6503	SO:0001628	intergenic_variant	84268				DNA recombination|DNA repair|DNA-dependent DNA replication|protein import into nucleus|response to UV	cytoplasm|nucleolus|PML body	metal ion binding|protein complex binding	g.chr17:5335874T>C	X75913	CCDS11071.1	17p13.3	2009-05-07				ENSG00000108561			1243	protein-coding gene	gene with protein product	"""C1q globular domain-binding protein"", ""hyaluronan-binding protein 1"", ""splicing factor SF2-associated protein"""	601269		HABP1		8567680, 8195709	Standard	NM_001212		Approved	gC1Q-R, gC1qR, p32, SF2p32	uc002gby.1	Q07021			17.37:g.5335874T>C						RPAIN_ENST00000381208.5_Missense_Mutation_p.W168R|RPAIN_ENST00000327154.6_Silent_p.L146L|CTC-524C5.2_ENST00000575890.1_RNA|RPAIN_ENST00000536255.2_3'UTR	p.W215R	NM_001033002.3	NP_001028174.2	Q86UA6	RIP_HUMAN			7	1213	+			215					Q2HXR8|Q9NNY8	Missense_Mutation	SNP	ENST00000225698.4	37	c.643T>C	CCDS11071.1	.	.	.	.	.	.	.	.	.	.	T	13.80	2.344545	0.41498	.	.	ENSG00000129197	ENST00000381209;ENST00000381208	T;T	0.43688	0.94;0.94	4.45	3.37	0.38596	.	0.191948	0.46758	N	0.000262	T	0.40145	0.1105	M	0.71581	2.175	0.80722	D	1	B;B	0.27498	0.033;0.18	B;B	0.29176	0.04;0.099	T	0.38156	-0.9674	10	0.62326	D	0.03	.	6.8161	0.23831	0.0:0.1035:0.0:0.8965	.	168;215	E9PDG9;Q86UA6	.;RIP_HUMAN	R	215;168	ENSP00000370606:W215R;ENSP00000370605:W168R	ENSP00000370605:W168R	W	+	1	0	RPAIN	5276598	0.971000	0.33674	0.864000	0.33941	0.817000	0.46193	1.976000	0.40579	1.035000	0.39972	0.533000	0.62120	TGG		0.378	C1QBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439388.1	NM_001212		3	282	0	0	0	1	0	3	282				
AGBL4	84871	broad.mit.edu	37	1	49119017	49119017	+	Silent	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr1:49119017G>A	ENST00000371839.1	-	8	947	c.831C>T	c.(829-831)ggC>ggT	p.G277G	AGBL4_ENST00000334103.7_Silent_p.G10G|AGBL4_ENST00000371838.1_Silent_p.G277G	NM_032785.3	NP_116174.3	Q5VU57	CBPC6_HUMAN	ATP/GTP binding protein-like 4	277					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytosol (GO:0005829)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15				Colorectal(2;0.00349)|COAD - Colon adenocarcinoma(2;0.0037)		ACCTGTAATTGCCCAGGTAGA	0.443																																						ENST00000371839.1																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15						c.(829-831)ggC>ggT		ATP/GTP binding protein-like 4							47.0	44.0	45.0					1																	49119017		1878	4105	5983	SO:0001819	synonymous_variant	84871				C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr1:49119017G>A	AK027348	CCDS44137.1	1p33	2014-06-23			ENSG00000186094	ENSG00000186094			25892	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 6"""					21074048	Standard	NM_032785		Approved	FLJ14442, CCP6	uc001cru.2	Q5VU57	OTTHUMG00000007793	ENST00000371839.1:c.831C>T	1.37:g.49119017G>A						AGBL4_ENST00000371838.1_Silent_p.G277G|AGBL4_ENST00000334103.7_Silent_p.G10G	p.G277G	NM_032785.3	NP_116174.3	Q5VU57	CBPC6_HUMAN		Colorectal(2;0.00349)|COAD - Colon adenocarcinoma(2;0.0037)	8	947	-			277					B3KT26|B4DG37	Silent	SNP	ENST00000371839.1	37	c.831C>T	CCDS44137.1	.	.	.	.	.	.	.	.	.	.	G	9.579	1.122955	0.20959	.	.	ENSG00000186094	ENST00000416121;ENST00000432500	.	.	.	5.84	2.59	0.31030	.	.	.	.	.	T	0.59004	0.2162	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54510	-0.8283	4	.	.	.	-25.4636	9.9546	0.41660	0.0:0.1022:0.5163:0.3814	.	.	.	.	V	123;66	.	.	A	-	2	0	AGBL4	48891604	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	0.423000	0.21313	0.787000	0.33731	-0.176000	0.13171	GCA		0.443	AGBL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021346.4	NM_032785		7	38	0	0	0	1	0	7	38				
ZNF615	284370	broad.mit.edu	37	19	52496685	52496685	+	Silent	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr19:52496685G>A	ENST00000602063.1	-	6	1993	c.1644C>T	c.(1642-1644)ggC>ggT	p.G548G	ZNF615_ENST00000594083.1_Silent_p.G559G|ZNF615_ENST00000598071.1_Silent_p.G559G|ZNF615_ENST00000376716.5_Silent_p.G548G|ZNF615_ENST00000391795.3_Silent_p.G553G			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	548					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)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TCTCAGTGAAGCCTTTTCCAC	0.448																																						ENST00000602063.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42						c.(1642-1644)ggC>ggT		zinc finger protein 615							118.0	103.0	108.0					19																	52496685		2203	4300	6503	SO:0001819	synonymous_variant	284370				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52496685G>A	AK096691	CCDS12846.1, CCDS59418.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	24740	protein-coding gene	gene with protein product						12477932	Standard	NM_001199324		Approved	FLJ33710	uc002pyf.2	Q8N8J6		ENST00000602063.1:c.1644C>T	19.37:g.52496685G>A						ZNF615_ENST00000598071.1_Silent_p.G559G|ZNF615_ENST00000594083.1_Silent_p.G559G|ZNF615_ENST00000376716.5_Silent_p.G548G|ZNF615_ENST00000391795.3_Silent_p.G553G	p.G548G			Q8N8J6	ZN615_HUMAN		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)	6	1993	-		all_neural(266;0.117)	548					B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Silent	SNP	ENST00000602063.1	37	c.1644C>T	CCDS12846.1																																																																																				0.448	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462391.1	NM_198480		31	70	0	0	0	1	0	31	70				
DLGAP1	9229	broad.mit.edu	37	18	3502638	3502638	+	Silent	SNP	A	A	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr18:3502638A>G	ENST00000315677.3	-	12	3172	c.2577T>C	c.(2575-2577)ccT>ccC	p.P859P	DLGAP1_ENST00000584874.1_Silent_p.P859P|DLGAP1_ENST00000400155.1_Silent_p.P565P|DLGAP1_ENST00000400149.3_Silent_p.P549P|DLGAP1_ENST00000539435.1_Silent_p.P567P|DLGAP1_ENST00000581527.1_Silent_p.P859P|DLGAP1_ENST00000534970.1_Silent_p.P543P|DLGAP1_ENST00000515196.2_Silent_p.P859P|DLGAP1_ENST00000400150.3_Silent_p.P575P|DLGAP1_ENST00000400147.2_Silent_p.P557P|DLGAP1_ENST00000581699.1_Silent_p.P565P|DLGAP1_ENST00000400145.2_Silent_p.P557P	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	859					synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				GATGAGCATTAGGATTCTGCA	0.388																																						ENST00000315677.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56						c.(2575-2577)ccT>ccC		discs, large (Drosophila) homolog-associated protein 1							67.0	74.0	71.0					18																	3502638		2203	4300	6503	SO:0001819	synonymous_variant	9229				synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane		g.chr18:3502638A>G	AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"""discs, large (Drosophila) homolog-associated protein 1"""			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.2577T>C	18.37:g.3502638A>G						DLGAP1_ENST00000584874.1_Silent_p.P859P|DLGAP1_ENST00000581699.1_Silent_p.P565P|DLGAP1_ENST00000581527.1_Silent_p.P859P|DLGAP1_ENST00000400147.2_Silent_p.P557P|DLGAP1_ENST00000539435.1_Silent_p.P567P|DLGAP1_ENST00000515196.2_Silent_p.P859P|DLGAP1_ENST00000400145.2_Silent_p.P557P|DLGAP1_ENST00000400149.3_Silent_p.P549P|DLGAP1_ENST00000400150.3_Silent_p.P575P|DLGAP1_ENST00000400155.1_Silent_p.P565P|DLGAP1_ENST00000534970.1_Silent_p.P543P	p.P859P	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN			12	3172	-		Colorectal(8;0.0257)	859					A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Silent	SNP	ENST00000315677.3	37	c.2577T>C	CCDS11836.1																																																																																				0.388	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254394.4			14	31	0	0	0	1	0	14	31				
ZNF551	90233	broad.mit.edu	37	19	58198816	58198816	+	Silent	SNP	T	T	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr19:58198816T>C	ENST00000282296.5	+	3	1358	c.1173T>C	c.(1171-1173)taT>taC	p.Y391Y	AC003006.7_ENST00000599221.1_Intron|ZNF551_ENST00000596085.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF551_ENST00000356715.4_Silent_p.Y375Y			Q7Z340	ZN551_HUMAN	zinc finger protein 551	391					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AAAGGCCTTATCAGTGCTGTG	0.448																																						ENST00000282296.5																			0				endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15						c.(1171-1173)taT>taC		zinc finger protein 551							86.0	89.0	88.0					19																	58198816		2203	4300	6503	SO:0001819	synonymous_variant	90233				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58198816T>C	BX538151	CCDS12959.1, CCDS12959.2	19q13.43	2013-09-20			ENSG00000204519	ENSG00000204519		"""Zinc fingers, C2H2-type"", ""-"""	25108	protein-coding gene	gene with protein product							Standard	NM_138347		Approved	DKFZp686H1038	uc002qpw.5	Q7Z340	OTTHUMG00000183470	ENST00000282296.5:c.1173T>C	19.37:g.58198816T>C						AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000596085.1_Intron|ZNF551_ENST00000356715.4_Silent_p.Y375Y	p.Y391Y	NM_001270938.1	NP_001257867.1	Q7Z340	ZN551_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	3	1358	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	391					B4DU22|P17034|Q8N246|Q9BRY1	Silent	SNP	ENST00000282296.5	37	c.1173T>C	CCDS12959.2	.	.	.	.	.	.	.	.	.	.	T	14.25	2.478146	0.44044	.	.	ENSG00000228006	ENST00000541705	.	.	.	2.75	2.75	0.32379	.	0.309864	0.20416	U	0.092765	T	0.16727	0.0402	.	.	.	0.09310	N	0.999995	.	.	.	.	.	.	T	0.20009	-1.0288	6	0.10636	T	0.68	.	5.6207	0.17455	0.0:0.1346:0.0:0.8653	.	.	.	.	V	197	.	ENSP00000437781:I197V	I	-	1	0	AC004017.1	62890628	0.000000	0.05858	0.028000	0.17463	0.201000	0.24016	-0.911000	0.04050	1.262000	0.44165	0.459000	0.35465	ATA		0.448	ZNF551-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466803.2	NM_138347		28	51	0	0	0	1	0	28	51				
CS	1431	broad.mit.edu	37	12	56667394	56667394	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr12:56667394C>A	ENST00000351328.3	-	10	1397	c.1207G>T	c.(1207-1209)Gct>Tct	p.A403S	CS_ENST00000542324.2_Missense_Mutation_p.A390S|CS_ENST00000548567.1_Missense_Mutation_p.A337S	NM_004077.2	NP_004068.2	O75390	CISY_HUMAN	citrate synthase	403					carbohydrate metabolic process (GO:0005975)|cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	citrate (Si)-synthase activity (GO:0004108)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	17		Myeloproliferative disorder(1001;0.000374)		BRCA - Breast invasive adenocarcinoma(357;6.17e-07)		CCACTGTGAGCATCTACATTG	0.453																																						ENST00000548567.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	17						c.(1009-1011)Gct>Tct		citrate synthase							119.0	97.0	105.0					12																	56667394		2203	4300	6503	SO:0001583	missense	1431				cellular carbohydrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	citrate (Si)-synthase activity	g.chr12:56667394C>A		CCDS8913.1	12q13.2	2012-10-02				ENSG00000062485	2.3.3.1		2422	protein-coding gene	gene with protein product		118950					Standard	NM_004077		Approved		uc001sks.1	O75390	OTTHUMG00000170344	ENST00000351328.3:c.1207G>T	12.37:g.56667394C>A	ENSP00000342056:p.Ala403Ser					CS_ENST00000351328.3_Missense_Mutation_p.A403S|CS_ENST00000542324.2_Missense_Mutation_p.A390S	p.A337S			O75390	CISY_HUMAN		BRCA - Breast invasive adenocarcinoma(357;6.17e-07)	11	1479	-		Myeloproliferative disorder(1001;0.000374)	403					Q71UT9|Q7KZH0|Q96FZ8|Q9BWN8	Missense_Mutation	SNP	ENST00000351328.3	37	c.1009G>T	CCDS8913.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.454223	0.84209	.	.	ENSG00000062485	ENST00000548567;ENST00000351328;ENST00000548746;ENST00000542324	.	.	.	5.69	5.69	0.88448	Citrate synthase-like, core (1);	0.000000	0.85682	D	0.000000	T	0.70962	0.3284	L	0.42686	1.345	0.80722	D	1	P;P;P	0.34546	0.456;0.456;0.456	P;P;P	0.51777	0.535;0.612;0.679	T	0.64253	-0.6451	9	0.31617	T	0.26	-13.4602	18.9789	0.92748	0.0:1.0:0.0:0.0	.	390;358;403	B4DJV2;B3KTN4;O75390	.;.;CISY_HUMAN	S	337;403;76;390	.	ENSP00000342056:A403S	A	-	1	0	CS	54953661	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.098000	0.76974	2.865000	0.98341	0.655000	0.94253	GCT		0.453	CS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408588.2	NM_004077		3	82	1	0	1	1	1	3	82				
CHRM2	1129	broad.mit.edu	37	7	136699840	136699840	+	Silent	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr7:136699840C>T	ENST00000445907.2	+	3	756	c.228C>T	c.(226-228)tcC>tcT	p.S76S	hsa-mir-490_ENST00000425981.2_RNA|hsa-mir-490_ENST00000586239.1_RNA|CHRM2_ENST00000397608.3_Silent_p.S76S|hsa-mir-490_ENST00000593789.1_RNA|CHRM2_ENST00000401861.1_Silent_p.S76S|CHRM2_ENST00000453373.1_Silent_p.S76S|hsa-mir-490_ENST00000439694.1_RNA|hsa-mir-490_ENST00000598184.1_RNA|hsa-mir-490_ENST00000597642.1_RNA|hsa-mir-490_ENST00000592183.1_RNA|CHRM2_ENST00000320658.5_Silent_p.S76S|CHRM2_ENST00000402486.3_Silent_p.S76S	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	76					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	GTGTTTTCTCCATGAACTTGT	0.473																																						ENST00000445907.2																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68						c.(226-228)tcC>tcT		cholinergic receptor, muscarinic 2	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)						224.0	197.0	206.0					7																	136699840		2203	4300	6503	SO:0001819	synonymous_variant	1129				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding	g.chr7:136699840C>T		CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1951	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 2"""	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.228C>T	7.37:g.136699840C>T						AC009264.1_ENST00000592183.1_RNA|CHRM2_ENST00000453373.1_Silent_p.S76S|CHRM2_ENST00000397608.3_Silent_p.S76S|AC009264.1_ENST00000425981.2_RNA|CHRM2_ENST00000402486.3_Silent_p.S76S|AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000597642.1_RNA|CHRM2_ENST00000401861.1_Silent_p.S76S|AC009264.1_ENST00000586239.1_RNA|CHRM2_ENST00000320658.5_Silent_p.S76S|AC009264.1_ENST00000439694.1_RNA	p.S76S	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN			3	756	+			76					Q4VBK6|Q9P1X9	Silent	SNP	ENST00000445907.2	37	c.228C>T	CCDS5843.1																																																																																				0.473	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341010.1			3	148	0	0	0	1	0	3	148				
RPS3A	6189	broad.mit.edu	37	4	152022142	152022142	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr4:152022142G>A	ENST00000274065.4	+	3	262	c.182G>A	c.(181-183)gGt>gAt	p.G61D	SNORD73A_ENST00000386062.1_RNA|RPS3A_ENST00000514682.1_Missense_Mutation_p.G24D|RPS3A_ENST00000506126.1_Missense_Mutation_p.G24D|RPS3A_ENST00000322686.6_Missense_Mutation_p.G48D|RPS3A_ENST00000509736.1_Intron|SNORD73_ENST00000364394.1_RNA|RPS3A_ENST00000512690.1_Missense_Mutation_p.G61D	NM_001006.4	NP_000997.1			ribosomal protein S3A											endometrium(1)|lung(1)|ovary(1)|pancreas(1)	4	all_hematologic(180;0.093)					GCATCTGATGGTCTCAAGGGT	0.348																																						ENST00000322686.6																			0				endometrium(1)|lung(1)|ovary(1)|pancreas(1)	4						c.(142-144)gGt>gAt		ribosomal protein S3A							43.0	43.0	43.0					4																	152022142		2100	4251	6351	SO:0001583	missense	6189				cell differentiation|endocrine pancreas development|induction of apoptosis|translational elongation|translational initiation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome	g.chr4:152022142G>A	X87373	CCDS3775.1	4q31.2-q31.3	2011-04-05			ENSG00000145425	ENSG00000145425		"""S ribosomal proteins"""	10421	protein-coding gene	gene with protein product		180478		MFTL		8647443, 1398113	Standard	NM_001006		Approved	S3A	uc003ilz.4	P61247	OTTHUMG00000161445	ENST00000274065.4:c.182G>A	4.37:g.152022142G>A	ENSP00000346050:p.Gly61Asp					RPS3A_ENST00000512690.1_Missense_Mutation_p.G61D|RPS3A_ENST00000274065.4_Missense_Mutation_p.G61D|RPS3A_ENST00000506126.1_Missense_Mutation_p.G24D|RPS3A_ENST00000514682.1_Missense_Mutation_p.G24D|RPS3A_ENST00000509736.1_Intron	p.G48D			P61247	RS3A_HUMAN			4	167	+	all_hematologic(180;0.093)		61						Missense_Mutation	SNP	ENST00000274065.4	37	c.143G>A	CCDS3775.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.999515	0.74818	.	.	ENSG00000145425	ENST00000274065;ENST00000505243;ENST00000514682;ENST00000322686;ENST00000503002;ENST00000508783;ENST00000507327;ENST00000515792;ENST00000506126;ENST00000510993	.	.	.	5.54	5.54	0.83059	.	0.000000	0.34067	N	0.004285	D	0.85583	0.5730	H	0.94582	3.555	0.80722	D	1	P	0.36712	0.566	P	0.46850	0.529	D	0.88096	0.2816	9	0.72032	D	0.01	.	19.538	0.95262	0.0:0.0:1.0:0.0	.	61	P61247	RS3A_HUMAN	D	61;24;24;48;24;24;24;55;24;41	.	ENSP00000346050:G61D	G	+	2	0	RPS3A	152241592	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	9.811000	0.99226	2.614000	0.88457	0.555000	0.69702	GGT		0.348	RPS3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364957.1			21	41	0	0	0	1	0	21	41				
PRIM2	5558	broad.mit.edu	37	6	57185310	57185310	+	Silent	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr6:57185310C>T	ENST00000607273.1	+	3	297	c.210C>T	c.(208-210)taC>taT	p.Y70Y	PRIM2_ENST00000389488.2_3'UTR	NM_000947.3	NP_000938.2	P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)	70					DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		CTGAACAATACCAGAGTAAGT	0.308																																						ENST00000607273.1																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59						c.(208-210)taC>taT		primase, DNA, polypeptide 2 (58kDa)							58.0	58.0	58.0					6																	57185310		1815	4076	5891	SO:0001819	synonymous_variant	5558				DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding	g.chr6:57185310C>T		CCDS75476.1, CCDS75477.1	6p12-p11.1	2013-01-31	2007-06-19	2007-06-19	ENSG00000146143	ENSG00000146143			9370	protein-coding gene	gene with protein product		176636	"""primase, polypeptide 2A (58kD)"", ""primase, polypeptide 2A, 58kDa"""	PRIM2A		8530050, 20675616	Standard	NM_001282487		Approved		uc003pdx.3	P49643	OTTHUMG00000016190	ENST00000607273.1:c.210C>T	6.37:g.57185310C>T						PRIM2_ENST00000389488.2_3'UTR	p.Y70Y	NM_000947.2	NP_000938.2	P49643	PRI2_HUMAN		Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)	3	297	+			70					Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413	Silent	SNP	ENST00000607273.1	37	c.210C>T																																																																																					0.308	PRIM2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_000947		9	28	0	0	0	1	0	9	28				
CNTNAP1	8506	broad.mit.edu	37	17	40844591	40844591	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr17:40844591G>C	ENST00000264638.4	+	17	2822	c.2605G>C	c.(2605-2607)Gag>Cag	p.E869Q	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	869	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		AGACGACTTTGAGTTCAATGA	0.587																																						ENST00000264638.4																			0				NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(2605-2607)Gag>Cag		contactin associated protein 1							158.0	139.0	146.0					17																	40844591		2203	4300	6503	SO:0001583	missense	8506				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr17:40844591G>C	U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"""neurexin 4"""	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.2605G>C	17.37:g.40844591G>C	ENSP00000264638:p.Glu869Gln					CTD-3193K9.3_ENST00000592440.1_RNA	p.E869Q	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.143)	17	2822	+		Breast(137;0.000143)	869			Laminin G-like 3.			Missense_Mutation	SNP	ENST00000264638.4	37	c.2605G>C	CCDS11436.1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.711232	0.48517	.	.	ENSG00000108797	ENST00000264638	T	0.77358	-1.09	5.14	5.14	0.70334	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.267147	0.32258	N	0.006356	T	0.53254	0.1785	N	0.03608	-0.345	0.31858	N	0.621331	P	0.41450	0.75	B	0.37387	0.248	T	0.62905	-0.6755	10	0.40728	T	0.16	.	9.5053	0.39042	0.0933:0.0:0.9067:0.0	.	869	P78357	CNTP1_HUMAN	Q	869	ENSP00000264638:E869Q	ENSP00000264638:E869Q	E	+	1	0	CNTNAP1	38098117	0.999000	0.42202	0.997000	0.53966	0.965000	0.64279	3.483000	0.53194	2.686000	0.91538	0.561000	0.74099	GAG		0.587	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452342.1	NM_003632		31	81	0	0	0	1	0	31	81				
IL12RB2	3595	broad.mit.edu	37	1	67861487	67861487	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr1:67861487G>C	ENST00000262345.1	+	16	2944	c.2304G>C	c.(2302-2304)aaG>aaC	p.K768N	IL12RB2_ENST00000544434.1_Missense_Mutation_p.K682N|IL12RB2_ENST00000371000.1_3'UTR|IL12RB2_ENST00000541374.1_3'UTR	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	768					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma production (GO:0032609)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interferon-gamma production (GO:0032729)|response to lipopolysaccharide (GO:0032496)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						ATCTGTACAAGGTGCTGGAGA	0.582																																						ENST00000262345.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						c.(2302-2304)aaG>aaC		interleukin 12 receptor, beta 2							98.0	95.0	96.0					1																	67861487		2203	4300	6503	SO:0001583	missense	3595				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity	g.chr1:67861487G>C	U64198	CCDS638.1, CCDS58006.1, CCDS58007.1, CCDS72805.1	1p31.3-p31.2	2014-07-15			ENSG00000081985	ENSG00000081985		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	5972	protein-coding gene	gene with protein product		601642				9284929, 8943050	Standard	NM_001559		Approved		uc001ddu.3	Q99665	OTTHUMG00000009094	ENST00000262345.1:c.2304G>C	1.37:g.67861487G>C	ENSP00000262345:p.Lys768Asn					IL12RB2_ENST00000544434.1_Missense_Mutation_p.K682N|IL12RB2_ENST00000541374.1_3'UTR|IL12RB2_ENST00000371000.1_3'UTR	p.K768N	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN			16	2944	+			768					B1AN98|B7ZKL9|F5H7L6|Q2M3V3	Missense_Mutation	SNP	ENST00000262345.1	37	c.2304G>C	CCDS638.1	.	.	.	.	.	.	.	.	.	.	G	14.18	2.458732	0.43634	.	.	ENSG00000081985	ENST00000262345;ENST00000544434	T;T	0.52295	0.67;1.42	5.39	4.48	0.54585	.	0.482935	0.23461	N	0.047927	T	0.48241	0.1489	M	0.65975	2.015	0.80722	D	1	D;D	0.69078	0.988;0.997	P;P	0.60789	0.844;0.879	T	0.47573	-0.9107	10	0.31617	T	0.26	-15.141	10.3657	0.44021	0.0911:0.0:0.9089:0.0	.	682;768	F5H7L6;Q99665	.;I12R2_HUMAN	N	768;682	ENSP00000262345:K768N;ENSP00000442443:K682N	ENSP00000262345:K768N	K	+	3	2	IL12RB2	67634075	1.000000	0.71417	1.000000	0.80357	0.007000	0.05969	2.940000	0.49003	1.421000	0.47157	0.561000	0.74099	AAG		0.582	IL12RB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025202.2	NM_001559		48	181	0	0	0	1	0	48	181				
NIT2	56954	broad.mit.edu	37	3	100058770	100058770	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr3:100058770C>G	ENST00000394140.4	+	3	329	c.238C>G	c.(238-240)Ctc>Gtc	p.L80V		NM_020202.4	NP_064587.1	Q9NQR4	NIT2_HUMAN	nitrilase family, member 2	80	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				asparagine metabolic process (GO:0006528)|glutamine metabolic process (GO:0006541)|oxaloacetate metabolic process (GO:0006107)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	omega-amidase activity (GO:0050152)			breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						CAGCATATATCTCATTGGAGG	0.418																																						ENST00000394140.3																			0				breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						c.(238-240)Ctc>Gtc		nitrilase family, member 2							76.0	73.0	74.0					3																	100058770		2203	4300	6503	SO:0001583	missense	56954				nitrogen compound metabolic process		omega-amidase activity	g.chr3:100058770C>G	AF284574	CCDS33806.1	3q12.3	2004-07-12			ENSG00000114021	ENSG00000114021			29878	protein-coding gene	gene with protein product						10959838	Standard	NM_020202		Approved		uc003dtv.3	Q9NQR4	OTTHUMG00000159066	ENST00000394140.4:c.238C>G	3.37:g.100058770C>G	ENSP00000377696:p.Leu80Val						p.L80V	NM_020202.4	NP_064587.1	Q9NQR4	NIT2_HUMAN			3	329	+			80			CN hydrolase.		B2R9A3|D3DN47|Q8WUF0	Missense_Mutation	SNP	ENST00000394140.4	37	c.238C>G	CCDS33806.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.90|13.90	2.374934|2.374934	0.42105|0.42105	.|.	.|.	ENSG00000114021|ENSG00000114021	ENST00000394140|ENST00000497785	D|.	0.86030|.	-2.06|.	5.24|5.24	4.36|4.36	0.52297|0.52297	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (4);|.	0.197014|.	0.43747|.	N|.	0.000525|.	T|T	0.61974|0.61974	0.2390|0.2390	L|L	0.46670|0.46670	1.46|1.46	0.48901|0.48901	D|D	0.999727|0.999727	P;B|.	0.39717|.	0.684;0.003|.	B;B|.	0.35550|.	0.205;0.019|.	T|T	0.59700|0.59700	-0.7405|-0.7405	10|5	0.45353|.	T|.	0.12|.	-14.0103|-14.0103	15.8251|15.8251	0.78698|0.78698	0.0:0.8547:0.1453:0.0|0.0:0.8547:0.1453:0.0	.|.	80;80|.	B7Z3F9;Q9NQR4|.	.;NIT2_HUMAN|.	V|C	80|173	ENSP00000377696:L80V|.	ENSP00000377696:L80V|.	L|S	+|+	1|2	0|0	NIT2|NIT2	101541460|101541460	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	3.622000|3.622000	0.54217|0.54217	1.337000|1.337000	0.45525|0.45525	0.655000|0.655000	0.94253|0.94253	CTC|TCT		0.418	NIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353142.2	NM_020202		49	49	0	0	0	1	0	49	49				
ANKRD22	118932	broad.mit.edu	37	10	90591734	90591734	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr10:90591734C>T	ENST00000371930.4	-	2	281	c.71G>A	c.(70-72)tGg>tAg	p.W24*		NM_144590.2	NP_653191.2	Q5VYY1	ANR22_HUMAN	ankyrin repeat domain 22	24										NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10		Colorectal(252;0.0163)		Colorectal(12;6.29e-05)|COAD - Colon adenocarcinoma(12;7.69e-05)		TTCTTTCACCCACCGCCACAC	0.493																																						ENST00000371930.4																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10						c.(70-72)tGg>tAg		ankyrin repeat domain 22							251.0	243.0	246.0					10																	90591734		2203	4300	6503	SO:0001587	stop_gained	118932							g.chr10:90591734C>T	BC021671	CCDS7390.1	10q23.31	2013-09-20			ENSG00000152766	ENSG00000152766		"""Ankyrin repeat domain containing"""	28321	protein-coding gene	gene with protein product						12477932	Standard	NM_144590		Approved	MGC22805	uc001kfj.4	Q5VYY1	OTTHUMG00000018699	ENST00000371930.4:c.71G>A	10.37:g.90591734C>T	ENSP00000360998:p.Trp24*						p.W24*	NM_144590.2	NP_653191.2	Q5VYY1	ANR22_HUMAN		Colorectal(12;6.29e-05)|COAD - Colon adenocarcinoma(12;7.69e-05)	2	281	-		Colorectal(252;0.0163)	24					B2R9Y7|Q8WU06	Nonsense_Mutation	SNP	ENST00000371930.4	37	c.71G>A	CCDS7390.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.624197	0.87560	.	.	ENSG00000152766	ENST00000371930	.	.	.	5.58	3.7	0.42460	.	0.333204	0.28257	N	0.016005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-2.9374	8.8041	0.34927	0.3045:0.5482:0.1473:0.0	.	.	.	.	X	24	.	ENSP00000360998:W24X	W	-	2	0	ANKRD22	90581714	1.000000	0.71417	0.100000	0.21137	0.630000	0.37929	2.734000	0.47368	0.696000	0.31696	0.561000	0.74099	TGG		0.493	ANKRD22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049262.1	NM_144590		8	172	0	0	0	1	0	8	172				
HEATR3	55027	broad.mit.edu	37	16	50128614	50128614	+	Splice_Site	SNP	A	A	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr16:50128614A>T	ENST00000299192.7	+	12	1701		c.e12-1		HEATR3_ENST00000564942.1_Splice_Site|HEATR3_ENST00000285767.4_Splice_Site	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3											cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						TTTGTGTTTTAGATTTTGCTA	0.333																																						ENST00000299192.7																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.e12-1		HEAT repeat containing 3							77.0	79.0	78.0					16																	50128614		2198	4299	6497	SO:0001630	splice_region_variant	55027						binding	g.chr16:50128614A>T	BC018730	CCDS10739.1	16q12.1	2008-02-05			ENSG00000155393	ENSG00000155393			26087	protein-coding gene	gene with protein product		614951				12477932	Standard	XM_005256013		Approved	FLJ20718	uc002efw.3	Q7Z4Q2	OTTHUMG00000133174	ENST00000299192.7:c.1511-1A>T	16.37:g.50128614A>T						HEATR3_ENST00000564942.1_Splice_Site|HEATR3_ENST00000285767.4_Splice_Site		NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN			12	1701	+								A8K1N4|Q8N525|Q8WV56|Q96CC9|Q9NWN7	Splice_Site	SNP	ENST00000299192.7	37		CCDS10739.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.411080	0.83340	.	.	ENSG00000155393	ENST00000285767;ENST00000299192	.	.	.	5.92	5.92	0.95590	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3662	0.83325	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HEATR3	48686115	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.514000	0.81750	2.274000	0.75844	0.533000	0.62120	.		0.333	HEATR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256880.2	NM_182922	Intron	4	140	0	0	0	1	0	4	140				
VPS36	51028	broad.mit.edu	37	13	52990211	52990211	+	Silent	SNP	G	G	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr13:52990211G>T	ENST00000378060.4	-	13	1035	c.1008C>A	c.(1006-1008)tcC>tcA	p.S336S		NM_001282168.1|NM_001282169.1|NM_016075.2	NP_001269097.1|NP_001269098.1|NP_057159.2	Q86VN1	VPS36_HUMAN	vacuolar protein sorting 36 homolog (S. cerevisiae)	336					endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylinositol-3-phosphate binding (GO:0032266)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	17		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.14e-08)		CTGATGTTAGGGATCCCTTTT	0.368																																						ENST00000378060.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	17						c.(1006-1008)tcC>tcA		vacuolar protein sorting 36 homolog (S. cerevisiae)							106.0	97.0	100.0					13																	52990211		2203	4300	6503	SO:0001819	synonymous_variant	51028				cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|late endosome|membrane|nucleus	lipid binding	g.chr13:52990211G>T	AF151903	CCDS9434.1, CCDS73577.1	13q14.13	2008-02-05	2007-01-12	2005-08-02	ENSG00000136100	ENSG00000136100			20312	protein-coding gene	gene with protein product		610903	"""chromosome 13 open reading frame 9"", ""vacuolar protein sorting 36 homolog (yeast)"""	C13orf9		11278625, 15755741	Standard	NM_016075		Approved	CGI-145, Eap45	uc001vgs.3	Q86VN1	OTTHUMG00000016964	ENST00000378060.4:c.1008C>A	13.37:g.52990211G>T							p.S336S	NM_016075.2	NP_057159.2	Q86VN1	VPS36_HUMAN		GBM - Glioblastoma multiforme(99;3.14e-08)	13	1035	-		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	336					A8K125|Q3ZCV7|Q5H9S1|Q5VXB6|Q9H8Z5|Q9Y3E3	Silent	SNP	ENST00000378060.4	37	c.1008C>A	CCDS9434.1																																																																																				0.368	VPS36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045059.3			4	80	1	0	1.23904e-05	1	1.37878e-05	4	80				
OR4F15	390649	broad.mit.edu	37	15	102358493	102358493	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr15:102358493A>T	ENST00000332238.4	+	1	128	c.104A>T	c.(103-105)tAc>tTc	p.Y35F		NM_001001674.1	NP_001001674.1	Q8NGB8	O4F15_HUMAN	olfactory receptor, family 4, subfamily F, member 15	35						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(10)	19	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			TTGTTGTTCTACTTTGCGAGC	0.423																																						ENST00000332238.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(10)	19						c.(103-105)tAc>tTc		olfactory receptor, family 4, subfamily F, member 15							228.0	200.0	209.0					15																	102358493		2203	4300	6503	SO:0001583	missense	390649				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:102358493A>T	BK004405	CCDS32342.1	15q26.3	2012-08-09				ENSG00000182854		"""GPCR / Class A : Olfactory receptors"""	15078	protein-coding gene	gene with protein product							Standard	NM_001001674		Approved		uc010uts.2	Q8NGB8		ENST00000332238.4:c.104A>T	15.37:g.102358493A>T	ENSP00000333184:p.Tyr35Phe						p.Y35F	NM_001001674.1	NP_001001674.1	Q8NGB8	O4F15_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)		1	128	+	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		35					B2RNQ5|Q6IF57|Q96R70	Missense_Mutation	SNP	ENST00000332238.4	37	c.104A>T	CCDS32342.1	.	.	.	.	.	.	.	.	.	.	.	11.58	1.681929	0.29872	.	.	ENSG00000182854	ENST00000332238	T	0.04406	3.63	5.43	5.43	0.79202	.	0.119782	0.38111	N	0.001819	T	0.09202	0.0227	M	0.69248	2.105	0.21355	N	0.999719	B	0.31752	0.338	B	0.36030	0.216	T	0.13737	-1.0498	9	.	.	.	.	13.4735	0.61295	1.0:0.0:0.0:0.0	.	35	Q8NGB8	O4F15_HUMAN	F	35	ENSP00000333184:Y35F	.	Y	+	2	0	OR4F15	100176016	0.978000	0.34361	0.057000	0.19452	0.227000	0.25037	3.633000	0.54295	2.277000	0.76020	0.528000	0.53228	TAC		0.423	OR4F15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417594.1	NM_001001674		7	214	0	0	0	1	0	7	214				
GAS8	2622	broad.mit.edu	37	16	90099333	90099333	+	Splice_Site	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr16:90099333G>A	ENST00000268699.4	+	4	617		c.e4+1		GAS8_ENST00000536122.1_Splice_Site|GAS8_ENST00000540721.1_Splice_Site	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8						cellular protein localization (GO:0034613)|negative regulation of cell proliferation (GO:0008285)|sperm motility (GO:0030317)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile cilium (GO:0031514)				endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		CCTGCGGCTGGTAGGTGTGGC	0.572																																						ENST00000268699.4																			0				endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14						c.e4+1		growth arrest-specific 8							54.0	48.0	50.0					16																	90099333		2198	4300	6498	SO:0001630	splice_region_variant	2622				negative regulation of cell proliferation|sperm motility	cilium|Golgi apparatus|microtubule|microtubule basal body|microtubule-based flagellum	protein binding	g.chr16:90099333G>A	AF050079	CCDS10992.1, CCDS67101.1, CCDS73932.1	16q24.3	2014-07-18	2003-01-16	2003-01-17	ENSG00000141013	ENSG00000141013			4166	protein-coding gene	gene with protein product		605178	"""growth arrest-specific 11"""	GAS11		9790751	Standard	NM_001481		Approved		uc002fqi.1	O95995	OTTHUMG00000138988	ENST00000268699.4:c.495+1G>A	16.37:g.90099333G>A						GAS8_ENST00000536122.1_Splice_Site|GAS8_ENST00000540721.1_Splice_Site		NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.029)	4	617	+		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)						B2RCT1|B7Z4U1|G3V1L5|Q2M234	Splice_Site	SNP	ENST00000268699.4	37		CCDS10992.1	.	.	.	.	.	.	.	.	.	.	G	19.61	3.860193	0.71834	.	.	ENSG00000141013	ENST00000536122;ENST00000268699;ENST00000540721;ENST00000537797	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.38	0.94529	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GAS8	88626834	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	7.206000	0.77891	2.689000	0.91719	0.555000	0.69702	.		0.572	GAS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272877.2		Intron	3	11	0	0	0	1	0	3	11				
NRBP1	29959	broad.mit.edu	37	2	27663340	27663340	+	Silent	SNP	C	C	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr2:27663340C>A	ENST00000233557.3	+	13	1939	c.1107C>A	c.(1105-1107)atC>atA	p.I369I	NRBP1_ENST00000379852.3_Silent_p.I369I|NRBP1_ENST00000379863.3_Silent_p.I377I|KRTCAP3_ENST00000543753.1_5'Flank|KRTCAP3_ENST00000407293.1_5'Flank|KRTCAP3_ENST00000288873.3_5'Flank			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1	369					ER to Golgi vesicle-mediated transport (GO:0006888)|gene expression (GO:0010467)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell projection (GO:0042995)|endomembrane system (GO:0012505)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					TGGCTGAAATCCCTGCAGGAC	0.493																																						ENST00000233557.3																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						c.(1105-1107)atC>atA		nuclear receptor binding protein 1							101.0	98.0	99.0					2																	27663340		2203	4300	6503	SO:0001819	synonymous_variant	29959				ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm	ATP binding|protein homodimerization activity|protein kinase activity	g.chr2:27663340C>A	AF113249	CCDS1753.1	2p23	2008-02-05	2005-12-22	2005-12-22	ENSG00000115216	ENSG00000115216			7993	protein-coding gene	gene with protein product		606010	"""nuclear receptor binding protein"""	NRBP		10843813, 11956649	Standard	NM_013392		Approved	BCON3, MUDPNP, MADM	uc002rkp.3	Q9UHY1	OTTHUMG00000097789	ENST00000233557.3:c.1107C>A	2.37:g.27663340C>A						NRBP1_ENST00000379852.3_Silent_p.I369I|NRBP1_ENST00000379863.3_Silent_p.I377I	p.I369I			Q9UHY1	NRBP_HUMAN			13	1939	+	Acute lymphoblastic leukemia(172;0.155)		369					B3KV40|D6W558|Q53FZ5|Q96SU3	Silent	SNP	ENST00000233557.3	37	c.1107C>A	CCDS1753.1																																																																																				0.493	NRBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215033.1	NM_013392		29	57	1	0	1.02151e-06	1	1.16295e-06	29	57				
SCG2	7857	broad.mit.edu	37	2	224462781	224462781	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr2:224462781T>C	ENST00000305409.2	-	2	1452	c.1220A>G	c.(1219-1221)aAt>aGt	p.N407S		NM_003469.4	NP_003460.2	O00255	MEN1_HUMAN	secretogranin II	0					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		GAGCATCCTATTTTGGAACAG	0.502																																						ENST00000305409.2																			0				NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44						c.(1219-1221)aAt>aGt		secretogranin II							75.0	71.0	72.0					2																	224462781		2203	4300	6503	SO:0001583	missense	7857				angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity	g.chr2:224462781T>C	M25756	CCDS2457.1	2q35-q36	2010-04-27	2010-04-27		ENSG00000171951	ENSG00000171951			10575	protein-coding gene	gene with protein product	"""secretoneurin"", ""chromogranin C"""	118930				8617499, 16101435	Standard	NM_003469		Approved	CHGC, SgII, SN	uc002vnm.3	P13521	OTTHUMG00000133166	ENST00000305409.2:c.1220A>G	2.37:g.224462781T>C	ENSP00000304133:p.Asn407Ser						p.N407S	NM_003469.4	NP_003460.2	P13521	SCG2_HUMAN		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)	2	1452	-		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)	407					A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Missense_Mutation	SNP	ENST00000305409.2	37	c.1220A>G	CCDS2457.1	.	.	.	.	.	.	.	.	.	.	T	7.588	0.670182	0.14776	.	.	ENSG00000171951	ENST00000305409;ENST00000450330	T	0.01505	4.82	5.86	1.64	0.23874	.	0.376604	0.29300	N	0.012558	T	0.01156	0.0038	N	0.13235	0.315	0.30329	N	0.786803	B	0.13145	0.007	B	0.14578	0.011	T	0.39941	-0.9589	10	0.25751	T	0.34	.	5.9181	0.19065	0.0:0.1747:0.1346:0.6907	.	407	P13521	SCG2_HUMAN	S	407;267	ENSP00000304133:N407S	ENSP00000304133:N407S	N	-	2	0	SCG2	224171025	0.979000	0.34478	0.922000	0.36590	0.847000	0.48162	0.902000	0.28459	0.301000	0.22738	0.528000	0.53228	AAT		0.502	SCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256870.2	NM_003469		15	79	0	0	0	1	0	15	79				
C17orf75	64149	broad.mit.edu	37	17	30665271	30665271	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr17:30665271T>G	ENST00000577809.1	-	4	496	c.447A>C	c.(445-447)gaA>gaC	p.E149D	RP11-227G15.3_ENST00000581915.1_RNA|C17orf75_ENST00000225805.4_Missense_Mutation_p.E149D	NM_022344.3	NP_071739.2	Q9HAS0	NJMU_HUMAN	chromosome 17 open reading frame 75	149										ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			AGACCACATATTCTGAAGGGT	0.403																																						ENST00000577809.1																			0				ovary(1)	1						c.(445-447)gaA>gaC		chromosome 17 open reading frame 75							152.0	146.0	148.0					17																	30665271		1841	4099	5940	SO:0001583	missense	64149				spermatogenesis			g.chr17:30665271T>G	AB062437	CCDS58537.1	17q11.2	2013-01-21			ENSG00000108666	ENSG00000108666			30173	protein-coding gene	gene with protein product							Standard	NM_022344		Approved	NJMU-R1	uc002hhg.3	Q9HAS0		ENST00000577809.1:c.447A>C	17.37:g.30665271T>G	ENSP00000464275:p.Glu149Asp					C17orf75_ENST00000225805.4_Missense_Mutation_p.E149D|RP11-227G15.3_ENST00000581915.1_RNA	p.E149D	NM_022344.3	NP_071739.2	Q9HAS0	NJMU_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.239)		4	496	-		Breast(31;0.116)|Ovarian(249;0.182)	149					Q7Z2H4	Missense_Mutation	SNP	ENST00000577809.1	37	c.447A>C	CCDS58537.1	.	.	.	.	.	.	.	.	.	.	T	12.65	2.002085	0.35320	.	.	ENSG00000108666	ENST00000225805	.	.	.	5.68	-0.0434	0.13859	.	0.095110	0.64402	N	0.000001	T	0.38480	0.1042	L	0.45581	1.43	0.34092	D	0.660861	B	0.14805	0.011	B	0.16722	0.016	T	0.26916	-1.0089	9	0.41790	T	0.15	-9.5076	5.2391	0.15462	0.0:0.2974:0.2648:0.4378	.	149	Q9HAS0	NJMU_HUMAN	D	149	.	ENSP00000225805:E149D	E	-	3	2	C17orf75	27689384	0.613000	0.27009	0.999000	0.59377	0.966000	0.64601	-0.311000	0.08124	0.127000	0.18452	-0.366000	0.07423	GAA		0.403	C17orf75-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447204.1	NM_022344		31	60	0	0	0	1	0	31	60				
EGR3	1960	broad.mit.edu	37	8	22548538	22548538	+	Silent	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr8:22548538G>A	ENST00000317216.2	-	2	969	c.612C>T	c.(610-612)ggC>ggT	p.G204G	EGR3_ENST00000522910.1_Silent_p.G166G|RP11-459E5.1_ENST00000523627.1_RNA|EGR3_ENST00000524088.1_5'UTR|EGR3_ENST00000519492.1_3'UTR	NM_001199881.1|NM_004430.2	NP_001186810.1|NP_004421.2	Q06889	EGR3_HUMAN	early growth response 3	204					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|circadian rhythm (GO:0007623)|endothelial cell chemotaxis (GO:0035767)|muscle organ development (GO:0007517)|negative regulation of apoptotic process (GO:0043066)|neuromuscular synaptic transmission (GO:0007274)|peripheral nervous system development (GO:0007422)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of gamma-delta T cell differentiation (GO:0045586)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|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)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Prostate(55;0.0421)|Breast(100;0.102)		Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608)		CCGGAATGGAGCCCATGTCGT	0.577																																						ENST00000317216.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(610-612)ggC>ggT		early growth response 3							64.0	67.0	66.0					8																	22548538		2203	4300	6503	SO:0001819	synonymous_variant	1960				circadian rhythm|muscle organ development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:22548538G>A	X63741	CCDS6033.1, CCDS56528.1	8p23-p21	2013-01-08			ENSG00000179388	ENSG00000179388		"""Zinc fingers, C2H2-type"""	3240	protein-coding gene	gene with protein product	"""zinc finger protein pilot"""	602419				1906159, 11909874	Standard	NM_004430		Approved	PILOT	uc003xcm.1	Q06889	OTTHUMG00000097825	ENST00000317216.2:c.612C>T	8.37:g.22548538G>A						EGR3_ENST00000522910.1_Silent_p.G166G|EGR3_ENST00000524088.1_5'UTR|EGR3_ENST00000519492.1_3'UTR|RP11-459E5.1_ENST00000523627.1_RNA	p.G204G	NM_001199881.1|NM_004430.2	NP_001186810.1|NP_004421.2	Q06889	EGR3_HUMAN		Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608)	2	969	-		Prostate(55;0.0421)|Breast(100;0.102)	204					A8K8U9|B4DHJ5|E7EW38|Q2M3W2	Silent	SNP	ENST00000317216.2	37	c.612C>T	CCDS6033.1																																																																																				0.577	EGR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215098.1	NM_004430		4	56	0	0	0	1	0	4	56				
NUP210L	91181	broad.mit.edu	37	1	154027277	154027277	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr1:154027277T>G	ENST00000368559.3	-	24	3343	c.3272A>C	c.(3271-3273)aAa>aCa	p.K1091T	NUP210L_ENST00000368553.1_Missense_Mutation_p.K24T|NUP210L_ENST00000271854.3_Missense_Mutation_p.K1091T	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1091					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)		p.K1091R(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CAGTGTCATTTTCTCTGGAAG	0.368																																						ENST00000368559.3																			1	Substitution - Missense(1)	p.K1091R(1)	lung(1)	NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80						c.(3271-3273)aAa>aCa		nucleoporin 210kDa-like							108.0	102.0	104.0					1																	154027277		1861	4107	5968	SO:0001583	missense	91181					integral to membrane		g.chr1:154027277T>G	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.3272A>C	1.37:g.154027277T>G	ENSP00000357547:p.Lys1091Thr					NUP210L_ENST00000368553.1_Missense_Mutation_p.K24T|NUP210L_ENST00000271854.3_Missense_Mutation_p.K1091T	p.K1091T	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		24	3343	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		1091					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	ENST00000368559.3	37	c.3272A>C	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	T	19.40	3.820528	0.71028	.	.	ENSG00000143552	ENST00000368559;ENST00000368553;ENST00000271854	T;T;T	0.42900	0.96;0.96;0.96	4.83	4.83	0.62350	Bacterial Ig-like, group 2 (2);Invasin/intimin cell-adhesion (1);	0.000000	0.64402	D	0.000005	T	0.42988	0.1227	L	0.59912	1.85	0.35488	D	0.798749	D;D	0.67145	0.991;0.996	P;P	0.60012	0.622;0.867	T	0.38457	-0.9660	10	0.30854	T	0.27	-21.7368	12.7933	0.57547	0.0:0.0:0.0:1.0	.	1091;1091	E7EP56;Q5VU65	.;P210L_HUMAN	T	1091;24;1091	ENSP00000357547:K1091T;ENSP00000357541:K24T;ENSP00000271854:K1091T	ENSP00000271854:K1091T	K	-	2	0	NUP210L	152293901	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.813000	0.62620	2.035000	0.60131	0.528000	0.53228	AAA		0.368	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		23	45	0	0	0	1	0	23	45				
UBA5	79876	broad.mit.edu	37	3	132387710	132387710	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr3:132387710C>A	ENST00000356232.4	+	4	1418	c.346C>A	c.(346-348)Ctt>Att	p.L116I	UBA5_ENST00000473651.1_Missense_Mutation_p.L116I|UBA5_ENST00000264991.4_Missense_Mutation_p.L60I|UBA5_ENST00000494238.2_Missense_Mutation_p.L60I|UBA5_ENST00000493720.2_Missense_Mutation_p.L116I	NM_024818.3	NP_079094.1	Q9GZZ9	UBA5_HUMAN	ubiquitin-like modifier activating enzyme 5	116					protein ufmylation (GO:0071569)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|UFM1 activating enzyme activity (GO:0071566)			breast(2)|endometrium(4)|kidney(4)|large_intestine(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						TATGAATAGACTTTTCTTCCA	0.333																																						ENST00000356232.4																			0				breast(2)|endometrium(4)|kidney(4)|large_intestine(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(346-348)Ctt>Att		ubiquitin-like modifier activating enzyme 5							133.0	131.0	132.0					3																	132387710		2203	4298	6501	SO:0001583	missense	79876				protein ufmylation	aggresome|cytoplasm|nucleus	ATP binding|cofactor binding|metal ion binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding|UFM1 activating enzyme activity	g.chr3:132387710C>A	AY253672	CCDS3076.1, CCDS3077.1	3q22	2007-11-30	2007-11-30	2007-11-30	ENSG00000081307	ENSG00000081307		"""Ubiquitin-like modifier activating enzymes"""	23230	protein-coding gene	gene with protein product	"""UBA5, ubiquitin-activating enzyme E1 homolog (yeast)"""	610552	"""ubiquitin-activating enzyme E1-domain containing 1"""	UBE1DC1		11230166, 15071506	Standard	NM_198329		Approved	FLJ23251	uc003epa.4	Q9GZZ9	OTTHUMG00000159759	ENST00000356232.4:c.346C>A	3.37:g.132387710C>A	ENSP00000348565:p.Leu116Ile					UBA5_ENST00000494238.2_Missense_Mutation_p.L60I|UBA5_ENST00000473651.1_Missense_Mutation_p.L116I|UBA5_ENST00000493720.2_Missense_Mutation_p.L116I|UBA5_ENST00000264991.4_Missense_Mutation_p.L60I	p.L116I	NM_024818.3	NP_079094.1	Q9GZZ9	UBA5_HUMAN			4	1418	+			116					A6NJL3|D3DNC8|Q96ST1	Missense_Mutation	SNP	ENST00000356232.4	37	c.346C>A	CCDS3076.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.645891	0.87958	.	.	ENSG00000081307	ENST00000264991;ENST00000356232;ENST00000493720;ENST00000468022;ENST00000473651;ENST00000494238;ENST00000464068;ENST00000489361	T;T;T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55	5.62	5.62	0.85841	UBA/THIF-type NAD/FAD binding fold (1);Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.47284	0.1437	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	0.994;1.0	D;D	0.83275	0.934;0.996	T	0.26780	-1.0093	10	0.38643	T	0.18	-17.9414	19.6753	0.95930	0.0:1.0:0.0:0.0	.	116;116	E7EWE1;Q9GZZ9	.;UBA5_HUMAN	I	60;116;116;60;116;60;26;60	ENSP00000264991:L60I;ENSP00000348565:L116I;ENSP00000417879:L116I;ENSP00000418569:L60I;ENSP00000424984:L116I;ENSP00000418807:L60I;ENSP00000420055:L26I;ENSP00000417905:L60I	ENSP00000264991:L60I	L	+	1	0	UBA5	133870400	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	7.757000	0.85209	2.648000	0.89879	0.563000	0.77884	CTT		0.333	UBA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357187.2	NM_024818		8	70	1	0	6.31663e-08	1	7.3036e-08	8	70				
ECHDC2	55268	broad.mit.edu	37	1	53363134	53363134	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr1:53363134G>A	ENST00000371522.4	-	9	869	c.776C>T	c.(775-777)gCc>gTc	p.A259V	ECHDC2_ENST00000358358.5_Missense_Mutation_p.A228V|ECHDC2_ENST00000536120.1_Missense_Mutation_p.A213V	NM_001198961.1	NP_001185890.1	Q86YB7	ECHD2_HUMAN	enoyl CoA hydratase domain containing 2	259					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	lyase activity (GO:0016829)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	12						CCCTTCAATGGCCATCCCAGA	0.532																																						ENST00000536120.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	12						c.(637-639)gCc>gTc		enoyl CoA hydratase domain containing 2							257.0	199.0	219.0					1																	53363134		2203	4300	6503	SO:0001583	missense	55268				fatty acid metabolic process	mitochondrion	lyase activity	g.chr1:53363134G>A	AF258590	CCDS571.1, CCDS55600.1, CCDS72794.1	1p32.3	2010-04-30	2010-04-30		ENSG00000121310	ENSG00000121310			23408	protein-coding gene	gene with protein product			"""enoyl Coenzyme A hydratase domain containing 2"""				Standard	NM_018281		Approved	FLJ10948	uc001cup.4	Q86YB7	OTTHUMG00000008927	ENST00000371522.4:c.776C>T	1.37:g.53363134G>A	ENSP00000360577:p.Ala259Val					ECHDC2_ENST00000358358.5_Missense_Mutation_p.A228V|ECHDC2_ENST00000371522.4_Missense_Mutation_p.A259V	p.A213V			Q86YB7	ECHD2_HUMAN			12	1455	-			259					D3DQ36|Q9NV38	Missense_Mutation	SNP	ENST00000371522.4	37	c.638C>T	CCDS55600.1	.	.	.	.	.	.	.	.	.	.	G	17.32	3.360238	0.61403	.	.	ENSG00000121310	ENST00000371522;ENST00000358358;ENST00000536120;ENST00000467988	T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.04	5.49	3.64	0.41730	Crontonase, C-terminal (1);	0.050229	0.85682	N	0.000000	T	0.64227	0.2579	L	0.61036	1.89	0.80722	D	1	B;B	0.28208	0.177;0.203	B;B	0.33620	0.08;0.167	T	0.61352	-0.7080	10	0.39692	T	0.17	.	11.2643	0.49101	0.1497:0.0:0.8503:0.0	.	259;228	Q86YB7;Q86YB7-2	ECHD2_HUMAN;.	V	259;228;213;211	ENSP00000360577:A259V;ENSP00000351125:A228V;ENSP00000439264:A213V;ENSP00000441962:A211V	ENSP00000351125:A228V	A	-	2	0	ECHDC2	53135722	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	4.457000	0.60088	0.895000	0.36342	-0.137000	0.14449	GCC		0.532	ECHDC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024712.3	NM_018281		5	192	0	0	0	1	0	5	192				
TTC12	54970	broad.mit.edu	37	11	113194723	113194723	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr11:113194723A>C	ENST00000529221.1	+	4	335	c.230A>C	c.(229-231)gAa>gCa	p.E77A	TTC12_ENST00000314756.3_Missense_Mutation_p.E77A|TTC12_ENST00000483239.2_Missense_Mutation_p.E77A|TTC12_ENST00000393020.1_Missense_Mutation_p.E77A	NM_017868.3	NP_060338.3	Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	77										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		CAGAGTGCAGAAGAAATAAAC	0.323																																						ENST00000393020.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(229-231)gAa>gCa		tetratricopeptide repeat domain 12							147.0	138.0	141.0					11																	113194723		2201	4296	6497	SO:0001583	missense	54970						binding	g.chr11:113194723A>C	AK000542	CCDS8360.2	11q23.2	2013-01-10			ENSG00000149292	ENSG00000149292		"""Tetratricopeptide (TTC) repeat domain containing"""	23700	protein-coding gene	gene with protein product		610732				12964006	Standard	XM_005271607		Approved	FLJ13859, FLJ20535, TPARM	uc001pnu.3	Q9H892	OTTHUMG00000142832	ENST00000529221.1:c.230A>C	11.37:g.113194723A>C	ENSP00000433757:p.Glu77Ala					TTC12_ENST00000483239.2_Missense_Mutation_p.E77A|TTC12_ENST00000529221.1_Missense_Mutation_p.E77A|TTC12_ENST00000314756.3_Missense_Mutation_p.E77A	p.E77A			Q9H892	TTC12_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)	4	635	+		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)	77					Q8N5H9|Q9NWY3	Missense_Mutation	SNP	ENST00000529221.1	37	c.230A>C	CCDS8360.2	.	.	.	.	.	.	.	.	.	.	A	1.152	-0.646492	0.03531	.	.	ENSG00000149292	ENST00000529221;ENST00000429951;ENST00000442859;ENST00000531164;ENST00000529850;ENST00000314756;ENST00000525965;ENST00000393020;ENST00000455306;ENST00000483239	T;T;T;T;T;T;T;T;T;T	0.46063	2.45;0.88;1.46;1.44;0.91;2.43;0.88;2.43;1.48;2.47	5.35	3.05	0.35203	Armadillo-type fold (1);	43.508400	0.00166	N	0.000000	T	0.27205	0.0667	N	0.08118	0	0.09310	N	1	B;B	0.15473	0.013;0.013	B;B	0.14023	0.01;0.01	T	0.18871	-1.0323	10	0.37606	T	0.19	-1.6057	6.8622	0.24074	0.8207:0.0:0.1793:0.0	.	77;77	A8K8G6;Q9H892	.;TTC12_HUMAN	A	77;77;77;52;77;77;77;77;77;77	ENSP00000433757:E77A;ENSP00000413335:E77A;ENSP00000400039:E77A;ENSP00000433916:E52A;ENSP00000431806:E77A;ENSP00000315160:E77A;ENSP00000435308:E77A;ENSP00000376743:E77A;ENSP00000402004:E77A;ENSP00000419652:E77A	ENSP00000315160:E77A	E	+	2	0	TTC12	112699933	0.964000	0.33143	0.004000	0.12327	0.066000	0.16364	2.004000	0.40854	0.577000	0.29470	0.533000	0.62120	GAA		0.323	TTC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286455.2	NM_017868		7	57	0	0	0	1	0	7	57				
ATAD2B	54454	broad.mit.edu	37	2	24046247	24046247	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr2:24046247G>A	ENST00000238789.5	-	16	2355	c.2012C>T	c.(2011-2013)tCa>tTa	p.S671L	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	671						nucleus (GO:0005634)	ATP binding (GO:0005524)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCATGCCCTGAAGACATCAC	0.453																																						ENST00000238789.5																			0				central_nervous_system(1)	1						c.(2011-2013)tCa>tTa		ATPase family, AAA domain containing 2B							80.0	79.0	79.0					2																	24046247		2013	4182	6195	SO:0001583	missense	54454						ATP binding|nucleoside-triphosphatase activity	g.chr2:24046247G>A	AB033066	CCDS46227.1	2p24.1-p23.3	2010-04-21		2007-02-08	ENSG00000119778	ENSG00000119778		"""ATPases / AAA-type"""	29230	protein-coding gene	gene with protein product		615347					Standard	XM_005264372		Approved	KIAA1240	uc002rek.4	Q9ULI0	OTTHUMG00000151902	ENST00000238789.5:c.2012C>T	2.37:g.24046247G>A	ENSP00000238789:p.Ser671Leu					ATAD2B_ENST00000474583.1_5'UTR	p.S671L	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN			16	2355	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		671					B9ZVQ5|Q6ZNA6|Q8N9E7	Missense_Mutation	SNP	ENST00000238789.5	37	c.2012C>T	CCDS46227.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.258795	0.80246	.	.	ENSG00000119778	ENST00000238789	D	0.91464	-2.85	5.07	5.07	0.68467	.	.	.	.	.	D	0.85084	0.5616	N	0.20530	0.585	0.45718	D	0.998623	B	0.19331	0.035	B	0.20384	0.029	T	0.79957	-0.1584	9	0.36615	T	0.2	.	18.8411	0.92184	0.0:0.0:1.0:0.0	.	671	Q9ULI0	ATD2B_HUMAN	L	671	ENSP00000238789:S671L	ENSP00000238789:S671L	S	-	2	0	ATAD2B	23899751	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.828000	0.86729	2.539000	0.85634	0.561000	0.74099	TCA		0.453	ATAD2B-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324333.1	NM_017552		12	46	0	0	0	1	0	12	46				
ZNF33A	7581	broad.mit.edu	37	10	38301275	38301275	+	Silent	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr10:38301275C>T	ENST00000458705.2	+	2	164	c.6C>T	c.(4-6)aaC>aaT	p.N2N	ZNF33A_ENST00000476504.1_3'UTR|ZNF33A_ENST00000374618.3_Silent_p.N2N|ZNF33A_ENST00000432900.2_Intron|ZNF33A_ENST00000307441.9_Silent_p.N2N|ZNF33A_ENST00000469037.2_Silent_p.N2N			Q06730	ZN33A_HUMAN	zinc finger protein 33A	2					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)			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						ACAAAATGAACAAGGTAAGTT	0.348																																						ENST00000374618.3																			0				cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						c.(4-6)aaC>aaT		zinc finger protein 33A							111.0	112.0	112.0					10																	38301275		2203	4300	6503	SO:0001819	synonymous_variant	7581					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:38301275C>T	D31763	CCDS31182.1, CCDS60514.1, CCDS73088.1, CCDS73089.1	10p11.2	2013-01-08	2005-03-18		ENSG00000189180	ENSG00000189180		"""Zinc fingers, C2H2-type"", ""-"""	13096	protein-coding gene	gene with protein product	"""zinc finger and ZAK associated protein with KRAB domain"""	194521	"""zinc finger protein 33a (KOX 31)"", ""zinc finger protein 11A"""	ZNF33, ZNF11A		2014798, 8464732	Standard	NM_006974		Approved	KOX5, KOX31, KIAA0065, FLJ23404, ZZAPK	uc031pui.1	Q06730	OTTHUMG00000017983	ENST00000458705.2:c.6C>T	10.37:g.38301275C>T						ZNF33A_ENST00000469037.2_Silent_p.N2N|ZNF33A_ENST00000307441.9_Silent_p.N2N|ZNF33A_ENST00000458705.2_Silent_p.N2N|ZNF33A_ENST00000476504.1_3'UTR|ZNF33A_ENST00000432900.2_Intron	p.N2N	NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2	NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1	Q06730	ZN33A_HUMAN			2	184	+			2					A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86	Silent	SNP	ENST00000458705.2	37	c.6C>T	CCDS31182.1																																																																																				0.348	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047614.1	NM_006974		10	57	0	0	0	1	0	10	57				
SLC23A1	9963	broad.mit.edu	37	5	138715429	138715429	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr5:138715429G>T	ENST00000348729.3	-	8	909	c.863C>A	c.(862-864)gCa>gAa	p.A288E	SLC23A1_ENST00000353963.3_Missense_Mutation_p.A292E|SLC23A1_ENST00000503919.1_5'Flank	NM_005847.4	NP_005838	Q9UHI7	S23A1_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 1	288					brain development (GO:0007420)|dehydroascorbic acid transport (GO:0070837)|L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|lung development (GO:0030324)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transepithelial L-ascorbic acid transport (GO:0070904)|vitamin metabolic process (GO:0006766)|vitamin transmembrane transport (GO:0035461)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|brush border (GO:0005903)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular organelle (GO:0043229)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dehydroascorbic acid transporter activity (GO:0033300)|L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium ion transmembrane transporter activity (GO:0015081)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(5)|ovary(1)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		Vitamin C(DB00126)	ATCGGTTCGTGCCTGGAAGCC	0.592																																						ENST00000353963.3																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(5)|ovary(1)	19						c.(874-876)gCa>gAa		solute carrier family 23 (ascorbic acid transporter), member 1	Vitamin C(DB00126)						120.0	86.0	97.0					5																	138715429		2203	4300	6503	SO:0001583	missense	9963				brain development|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|response to toxin|transepithelial L-ascorbic acid transport|water-soluble vitamin metabolic process	apical plasma membrane|cytoplasm|integral to plasma membrane|intracellular organelle|membrane fraction	dehydroascorbic acid transporter activity|L-ascorbate:sodium symporter activity|nucleobase transmembrane transporter activity|protein binding|sodium-dependent L-ascorbate transmembrane transporter activity	g.chr5:138715429G>T	AF058317	CCDS4212.1, CCDS4213.1	5q31.2	2013-07-18	2013-07-18	2003-03-21	ENSG00000170482	ENSG00000170482		"""Solute carriers"""	10974	protein-coding gene	gene with protein product		603790	"""solute carrier family 23 (nucleobase transporters), member 2"""	SLC23A2		9804989, 10331392	Standard	NM_005847		Approved	YSPL3, SVCT1	uc003leg.3	Q9UHI7	OTTHUMG00000129228	ENST00000348729.3:c.863C>A	5.37:g.138715429G>T	ENSP00000302701:p.Ala288Glu					SLC23A1_ENST00000348729.3_Missense_Mutation_p.A288E	p.A292E	NM_152685.3	NP_689898.2	Q9UHI7	S23A1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		8	913	-			288					O95191|Q8WWB6|Q9UGH4|Q9UI39	Missense_Mutation	SNP	ENST00000348729.3	37	c.875C>A	CCDS4212.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.862506	0.91511	.	.	ENSG00000170482	ENST00000353963;ENST00000348729	T;T	0.20332	2.09;2.08	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	T	0.50411	0.1614	M	0.84082	2.675	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.79784	0.993;0.991	T	0.57573	-0.7788	10	0.72032	D	0.01	-10.4162	16.5892	0.84760	0.0:0.0:1.0:0.0	.	288;292	Q9UHI7;Q9UHI7-2	S23A1_HUMAN;.	E	292;288	ENSP00000302851:A292E;ENSP00000302701:A288E	ENSP00000302701:A288E	A	-	2	0	SLC23A1	138743328	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.406000	0.73276	2.449000	0.82847	0.561000	0.74099	GCA		0.592	SLC23A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000374185.1	NM_152685		7	36	1	0	7.48243e-07	1	8.58449e-07	7	36				
SLC40A1	30061	broad.mit.edu	37	2	190439950	190439950	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr2:190439950C>T	ENST00000261024.2	-	3	634	c.208G>A	c.(208-210)Ggg>Agg	p.G70R	SLC40A1_ENST00000418714.1_5'UTR	NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated transporter), member 1	70					anatomical structure morphogenesis (GO:0009653)|cellular iron ion homeostasis (GO:0006879)|endothelium development (GO:0003158)|iron ion transmembrane transport (GO:0034755)|lymphocyte homeostasis (GO:0002260)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of apoptotic process (GO:0043066)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|spleen trabecula formation (GO:0060345)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	iron ion transmembrane transporter activity (GO:0005381)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			AGAACAGACCCTGCCACCACC	0.488																																						ENST00000261024.2																			0				endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(208-210)Ggg>Agg		solute carrier family 40 (iron-regulated transporter), member 1							176.0	176.0	176.0					2																	190439950		2203	4300	6503	SO:0001583	missense	30061				anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding	g.chr2:190439950C>T	AF215636	CCDS2299.1	2q32	2014-09-17	2003-06-04	2003-06-05	ENSG00000138449	ENSG00000138449		"""Solute carriers"""	10909	protein-coding gene	gene with protein product	"""ferroportin 1"""	604653	"""solute carrier family 11 (proton-coupled divalent metal ion transporters), member 3"""	SLC11A3		10828623	Standard	NM_014585		Approved	MTP1, IREG1, FPN1, HFE4	uc002uqp.4	Q9NP59	OTTHUMG00000132662	ENST00000261024.2:c.208G>A	2.37:g.190439950C>T	ENSP00000261024:p.Gly70Arg					SLC40A1_ENST00000418714.1_5'UTR	p.G70R	NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)		3	634	-			70					Q6FI62|Q7Z4F8|Q8IVB2|Q9NRL0	Missense_Mutation	SNP	ENST00000261024.2	37	c.208G>A	CCDS2299.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.931285	0.92389	.	.	ENSG00000138449	ENST00000261024;ENST00000427241	T;T	0.81247	-1.44;-1.47	5.37	5.37	0.77165	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.89494	0.6731	M	0.72118	2.19	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.89393	0.3690	10	0.59425	D	0.04	-19.5648	19.3116	0.94189	0.0:1.0:0.0:0.0	.	70;70	A8K7Y1;Q9NP59	.;S40A1_HUMAN	R	70	ENSP00000261024:G70R;ENSP00000390005:G70R	ENSP00000261024:G70R	G	-	1	0	SLC40A1	190148195	1.000000	0.71417	0.972000	0.41901	0.996000	0.88848	5.762000	0.68809	2.808000	0.96608	0.650000	0.86243	GGG		0.488	SLC40A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255916.2			3	71	0	0	0	1	0	3	71				
ABTB1	80325	broad.mit.edu	37	3	127395171	127395171	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr3:127395171T>C	ENST00000232744.8	+	5	463	c.377T>C	c.(376-378)tTc>tCc	p.F126S	ABTB1_ENST00000453791.2_5'UTR|ABTB1_ENST00000468137.1_5'UTR|ABTB1_ENST00000393363.3_5'UTR					ankyrin repeat and BTB (POZ) domain containing 1											central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						GGGAAGCCATTCCGGGTGCAT	0.587																																						ENST00000232744.8																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						c.(376-378)tTc>tCc		ankyrin repeat and BTB (POZ) domain containing 1							165.0	145.0	152.0					3																	127395171		2203	4300	6503	SO:0001583	missense	80325					cytoplasm|nucleolus|plasma membrane	translation elongation factor activity	g.chr3:127395171T>C	AB053324	CCDS3045.1, CCDS46901.1	3q21	2013-01-10			ENSG00000114626	ENSG00000114626		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	18275	protein-coding gene	gene with protein product		608308				10891360, 11494141	Standard	NM_172027		Approved	BPOZ, EF1ABP, Btb3, BTBD21	uc003ejt.3	Q969K4	OTTHUMG00000159636	ENST00000232744.8:c.377T>C	3.37:g.127395171T>C	ENSP00000232744:p.Phe126Ser					ABTB1_ENST00000453791.2_5'UTR|ABTB1_ENST00000468137.1_5'UTR|ABTB1_ENST00000393363.3_5'UTR	p.F126S			Q969K4	ABTB1_HUMAN			5	463	+			126			BTB 1.			Missense_Mutation	SNP	ENST00000232744.8	37	c.377T>C	CCDS3045.1	.	.	.	.	.	.	.	.	.	.	t	15.64	2.893578	0.52121	.	.	ENSG00000114626	ENST00000232744	T	0.71698	-0.59	4.41	4.41	0.53225	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.89361	0.6693	H	0.97962	4.115	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.74348	0.975;0.983	D	0.93066	0.6478	10	0.87932	D	0	-23.1308	13.9724	0.64250	0.0:0.0:0.0:1.0	.	126;101	Q969K4;Q969K4-3	ABTB1_HUMAN;.	S	126	ENSP00000232744:F126S	ENSP00000232744:F126S	F	+	2	0	ABTB1	128877861	1.000000	0.71417	0.726000	0.30738	0.005000	0.04900	5.018000	0.64054	1.753000	0.51906	0.375000	0.23000	TTC		0.587	ABTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356595.1	NM_172027		5	291	0	0	0	1	0	5	291				
YME1L1	10730	broad.mit.edu	37	10	27431334	27431334	+	Missense_Mutation	SNP	C	C	G	rs143591480		TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr10:27431334C>G	ENST00000326799.3	-	5	731	c.583G>C	c.(583-585)Gat>Cat	p.D195H	YME1L1_ENST00000375972.3_Intron|YME1L1_ENST00000376016.3_Missense_Mutation_p.D138H	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	195					cell proliferation (GO:0008283)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrion organization (GO:0007005)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						TACTGAAGATCTGAACAAATG	0.318																																						ENST00000326799.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(583-585)Gat>Cat		YME1-like 1 ATPase		C	HIS/ASP,HIS/ASP	1,4405	2.1+/-5.4	0,1,2202	152.0	165.0	161.0		412,583	2.3	1.0	10	dbSNP_134	161	0,8600		0,0,4300	no	missense,missense	YME1L1	NM_014263.2,NM_139312.1	81,81	0,1,6502	GG,GC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	138/717,195/774	27431334	1,13005	2203	4300	6503	SO:0001583	missense	10730				protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity	g.chr10:27431334C>G	AJ132637	CCDS7151.1, CCDS7152.1, CCDS58072.1	10p14	2013-06-10	2013-06-10		ENSG00000136758	ENSG00000136758		"""ATPases / AAA-type"""	12843	protein-coding gene	gene with protein product		607472	"""YME1 (S.cerevisiae)-like 1"", ""YME1-like 1 (S. cerevisiae)"""			22262461	Standard	NM_139312		Approved		uc001itj.3	Q96TA2	OTTHUMG00000017853	ENST00000326799.3:c.583G>C	10.37:g.27431334C>G	ENSP00000318480:p.Asp195His					YME1L1_ENST00000375972.3_Intron|YME1L1_ENST00000376016.3_Missense_Mutation_p.D138H	p.D195H	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN			5	731	-			195					B4DNM1|D3DRV8|D3DRV9|Q5T8D9|Q9H1Q0|Q9UMR9	Missense_Mutation	SNP	ENST00000326799.3	37	c.583G>C	CCDS7152.1	.	.	.	.	.	.	.	.	.	.	C	18.20	3.570893	0.65765	2.27E-4	0.0	ENSG00000136758	ENST00000376016;ENST00000326799;ENST00000375969;ENST00000396296	D;D	0.92699	-3.08;-3.09	5.39	2.31	0.28768	Peptidase M41, FtsH (1);	0.338410	0.34200	N	0.004161	D	0.89420	0.6710	L	0.27053	0.805	0.80722	D	1	P;B	0.44946	0.846;0.023	P;B	0.48141	0.568;0.013	D	0.89418	0.3708	10	0.72032	D	0.01	-9.791	15.5069	0.75748	0.0:0.6089:0.3911:0.0	.	138;195	Q96TA2-2;Q96TA2	.;YMEL1_HUMAN	H	138;195;195;130	ENSP00000365184:D138H;ENSP00000318480:D195H	ENSP00000318480:D195H	D	-	1	0	YME1L1	27471340	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.556000	0.45862	0.599000	0.29845	0.591000	0.81541	GAT		0.318	YME1L1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047306.1	NM_139312		12	40	0	0	0	1	0	12	40				
TECTB	6975	broad.mit.edu	37	10	114044312	114044312	+	Silent	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr10:114044312C>T	ENST00000369422.3	+	2	96	c.96C>T	c.(94-96)tgC>tgT	p.C32C		NM_058222.1	NP_478129.1	Q96PL2	TECTB_HUMAN	tectorin beta	32	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.					anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.198)		Epithelial(162;0.0143)|all cancers(201;0.0242)		TTGTGTTTTGCTATCCCAAAA	0.458																																						ENST00000369422.3																			0				kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19						c.(94-96)tgC>tgT		tectorin beta							101.0	92.0	95.0					10																	114044312		2203	4300	6503	SO:0001819	synonymous_variant	6975					anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr10:114044312C>T	AF312827	CCDS7571.1	10q25-q26	2005-06-09			ENSG00000119913	ENSG00000119913			11721	protein-coding gene	gene with protein product		602653				9079715	Standard	NM_058222		Approved		uc001kzr.1	Q96PL2	OTTHUMG00000019056	ENST00000369422.3:c.96C>T	10.37:g.114044312C>T							p.C32C	NM_058222.1	NP_478129.1	Q96PL2	TECTB_HUMAN		Epithelial(162;0.0143)|all cancers(201;0.0242)	2	96	+		Colorectal(252;0.198)	32			ZP.		Q5VW53	Silent	SNP	ENST00000369422.3	37	c.96C>T	CCDS7571.1																																																																																				0.458	TECTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050381.1	NM_058222		10	86	0	0	0	1	0	10	86				
CDK5RAP2	55755	broad.mit.edu	37	9	123253705	123253705	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr9:123253705C>A	ENST00000349780.4	-	13	1541	c.1362G>T	c.(1360-1362)gaG>gaT	p.E454D	CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.E454D|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.E454D|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.E454D	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	454					brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						CCATTGCTTTCTCTCTTTCAT	0.313																																						ENST00000349780.4																			0				breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						c.(1360-1362)gaG>gaT		CDK5 regulatory subunit associated protein 2							167.0	144.0	152.0					9																	123253705		2202	4299	6501	SO:0001583	missense	55755				brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding	g.chr9:123253705C>A	BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"""centrosomin"""	608201	"""microcephaly, primary autosomal recessive 3"""	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.1362G>T	9.37:g.123253705C>A	ENSP00000343818:p.Glu454Asp					CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.E454D|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.E454D|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.E454D	p.E454D	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN			13	1541	-			454					Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Missense_Mutation	SNP	ENST00000349780.4	37	c.1362G>T	CCDS6823.1	.	.	.	.	.	.	.	.	.	.	C	12.33	1.905326	0.33628	.	.	ENSG00000136861	ENST00000360822;ENST00000359309;ENST00000349780;ENST00000360190;ENST00000345313	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	5.76	4.86	0.63082	.	0.094530	0.45867	D	0.000324	T	0.60261	0.2255	M	0.71581	2.175	0.35541	D	0.803095	D;D;D;D	0.76494	0.999;0.995;0.971;0.991	D;D;D;P	0.65684	0.937;0.914;0.937;0.822	T	0.65697	-0.6105	10	0.14656	T	0.56	.	9.8904	0.41288	0.0:0.8317:0.0:0.1683	.	255;454;454;454	Q6MZT4;Q96SN8-2;Q96SN8-4;Q96SN8	.;.;.;CK5P2_HUMAN	D	454;454;454;454;456	ENSP00000354065:E454D;ENSP00000352258:E454D;ENSP00000343818:E454D;ENSP00000353317:E454D	ENSP00000341695:E456D	E	-	3	2	CDK5RAP2	122293526	1.000000	0.71417	0.991000	0.47740	0.350000	0.29205	2.179000	0.42528	1.444000	0.47605	-0.142000	0.14014	GAG		0.313	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055535.1	NM_018249		5	38	1	0	0.00116845	1	0.00125312	5	38				
ORC5	5001	broad.mit.edu	37	7	103807322	103807322	+	Silent	SNP	C	C	T	rs377574889		TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr7:103807322C>T	ENST00000297431.4	-	10	1030	c.888G>A	c.(886-888)gcG>gcA	p.A296A	ORC5_ENST00000545943.1_Silent_p.A164A	NM_002553.3	NP_002544.1	O43913	ORC5_HUMAN	origin recognition complex, subunit 5	296					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)	ATP binding (GO:0005524)|DNA replication origin binding (GO:0003688)|nucleotide binding (GO:0000166)			kidney(1)|large_intestine(2)|lung(9)|pancreas(1)|upper_aerodigestive_tract(1)	14						CATGAGTATGCGCTGAGAGGC	0.358																																						ENST00000545943.1																			0				kidney(1)|large_intestine(2)|lung(9)|pancreas(1)|upper_aerodigestive_tract(1)	14						c.(490-492)gcG>gcA		origin recognition complex, subunit 5		C		0,4406		0,0,2203	94.0	98.0	96.0		888	-7.8	0.9	7		96	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	ORC5	NM_002553.3		0,1,6501	TT,TC,CC		0.0116,0.0,0.0077		296/436	103807322	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	5001				cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	cytoplasm|nuclear origin of replication recognition complex|nucleoplasm	ATP binding|DNA replication origin binding|identical protein binding	g.chr7:103807322C>T		CCDS5734.1, CCDS47681.1	7q22.1	2014-06-13	2010-10-12	2010-10-12	ENSG00000164815	ENSG00000164815			8491	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 117"""	602331	"""origin recognition complex, subunit 5 (yeast homolog)-like"", ""origin recognition complex, subunit 5-like (yeast)"", ""origin recognition complex, subunit 5 homolog (yeast)"""	ORC5L		9417919, 9829972	Standard	NM_002553		Approved	Orc5p, ORC5T, PPP1R117	uc003vcb.3	O43913	OTTHUMG00000157275	ENST00000297431.4:c.888G>A	7.37:g.103807322C>T						ORC5_ENST00000297431.4_Silent_p.A296A	p.A164A			O43913	ORC5_HUMAN			11	1117	-			296					A4D0P8|O60590|O95268	Silent	SNP	ENST00000297431.4	37	c.492G>A	CCDS5734.1																																																																																				0.358	ORC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348286.1	NM_002553		3	67	0	0	0	1	0	3	67				
GTF3C1	2975	broad.mit.edu	37	16	27481696	27481696	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr16:27481696G>A	ENST00000356183.4	-	31	4562	c.4547C>T	c.(4546-4548)cCa>cTa	p.P1516L	GTF3C1_ENST00000561623.1_Missense_Mutation_p.P1516L	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1516					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GATGGTGCTTGGAAATCGCCA	0.498																																						ENST00000356183.4																			0				breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						c.(4546-4548)cCa>cTa		general transcription factor IIIC, polypeptide 1, alpha 220kDa							108.0	118.0	114.0					16																	27481696		2197	4300	6497	SO:0001583	missense	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27481696G>A	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.4547C>T	16.37:g.27481696G>A	ENSP00000348510:p.Pro1516Leu					GTF3C1_ENST00000561623.1_Missense_Mutation_p.P1516L	p.P1516L	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN			31	4562	-			1516					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	37	c.4547C>T	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	G	31	5.073239	0.94000	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.27720	1.65	5.57	5.57	0.84162	.	0.057360	0.64402	D	0.000001	T	0.59824	0.2222	M	0.78637	2.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.62464	-0.6849	10	0.66056	D	0.02	-20.5513	19.1631	0.93543	0.0:0.0:1.0:0.0	.	1516;1516	Q12789;Q12789-3	TF3C1_HUMAN;.	L	1516;1512	ENSP00000348510:P1516L	ENSP00000348510:P1516L	P	-	2	0	GTF3C1	27389197	1.000000	0.71417	0.913000	0.36048	0.989000	0.77384	8.244000	0.89823	2.618000	0.88619	0.591000	0.81541	CCA		0.498	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		3	138	0	0	0	1	0	3	138				
NOB1	28987	broad.mit.edu	37	16	69776454	69776454	+	Silent	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr16:69776454G>A	ENST00000268802.5	-	9	1049	c.1020C>T	c.(1018-1020)ctC>ctT	p.L340L	CTD-2033A16.3_ENST00000575838.1_RNA	NM_014062.1	NP_054781.1	Q9ULX3	NOB1_HUMAN	NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)	340					visual perception (GO:0007601)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GATCCTCGGTGAGATGGGGGT	0.567																																						ENST00000268802.5																			0				breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(1018-1020)ctC>ctT		NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)							68.0	71.0	70.0					16																	69776454		2198	4300	6498	SO:0001819	synonymous_variant	28987					nucleus	metal ion binding|protein binding	g.chr16:69776454G>A	AB026125	CCDS10884.1	16q22.1	2008-02-05	2006-04-20	2006-04-20	ENSG00000141101	ENSG00000141101			29540	protein-coding gene	gene with protein product	"""nin one binding protein"""	613586	"""PSMD8 binding protein 1"""	PSMD8BP1		16172919	Standard	NM_014062		Approved	NOB1P, ART-4, MST158	uc002exs.4	Q9ULX3	OTTHUMG00000137576	ENST00000268802.5:c.1020C>T	16.37:g.69776454G>A						CTD-2033A16.3_ENST00000575838.1_RNA	p.L340L	NM_014062.1	NP_054781.1	Q9ULX3	NOB1_HUMAN			9	1049	-			340					Q7L6B7|Q7M4M4|Q7Z4B5|Q9NWB0	Silent	SNP	ENST00000268802.5	37	c.1020C>T	CCDS10884.1																																																																																				0.567	NOB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268958.2	NM_014062		10	85	0	0	0	1	0	10	85				
MSH6	2956	broad.mit.edu	37	2	48032817	48032817	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr2:48032817C>A	ENST00000234420.5	+	7	3769	c.3617C>A	c.(3616-3618)gCa>gAa	p.A1206E	MSH6_ENST00000538136.1_Missense_Mutation_p.A904E|MSH6_ENST00000540021.1_Missense_Mutation_p.A1076E|FBXO11_ENST00000405808.1_Intron	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	1206					ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CATGCAACAGCACATTCTCTG	0.294			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000234420.4			yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	"""Mis, N, F, S"""	mutS homolog 6 (E. coli)			E		"""colorectal, endometrial, ovarian"""	colorectal		2	Whole gene deletion(2)	p.0?(2)	haematopoietic_and_lymphoid_tissue(2)	breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229						c.(3616-3618)gCa>gAa	Mismatch excision repair (MMR)	mutS homolog 6							93.0	96.0	95.0					2																	48032817		2203	4300	6503	SO:0001583	missense	2956	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	g.chr2:48032817C>A	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"""mutS (E. coli) homolog 6"", ""mutS homolog 6 (E. coli)"""	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.3617C>A	2.37:g.48032817C>A	ENSP00000234420:p.Ala1206Glu					MSH6_ENST00000540021.1_Missense_Mutation_p.A1076E|MSH6_ENST00000538136.1_Missense_Mutation_p.A904E|FBXO11_ENST00000405808.1_Intron	p.A1206E	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		7	3769	+		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	1206					B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Missense_Mutation	SNP	ENST00000234420.5	37	c.3617C>A	CCDS1836.1	.	.	.	.	.	.	.	.	.	.	C	6.048	0.377163	0.11466	.	.	ENSG00000116062	ENST00000234420;ENST00000543270;ENST00000540021;ENST00000538136	D;D;D	0.84516	-1.86;-1.86;-1.86	4.81	3.86	0.44501	DNA mismatch repair protein MutS, C-terminal (2);	0.265617	0.42548	D	0.000682	T	0.62454	0.2429	N	0.03177	-0.4	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.002	T	0.60332	-0.7284	10	0.05436	T	0.98	-12.0813	10.4484	0.44507	0.3885:0.6115:0.0:0.0	.	1076;1206	B4DF41;P52701	.;MSH6_HUMAN	E	1206;172;1076;904	ENSP00000234420:A1206E;ENSP00000446475:A1076E;ENSP00000438580:A904E	ENSP00000234420:A1206E	A	+	2	0	MSH6	47886321	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	2.539000	0.45718	2.506000	0.84524	0.462000	0.41574	GCA		0.294	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251180.4	NM_000179		33	41	1	0	1.04352e-10	1	1.25561e-10	33	41				
TMEM187	8269	broad.mit.edu	37	X	153247610	153247610	+	Missense_Mutation	SNP	G	G	T	rs139864308	byFrequency	TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chrX:153247610G>T	ENST00000369982.4	+	2	844	c.97G>T	c.(97-99)Gtg>Ttg	p.V33L	MIR3202-1_ENST00000580198.1_RNA	NM_003492.2	NP_003483.1	Q14656	TM187_HUMAN	transmembrane protein 187	33						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				breast(1)|large_intestine(1)|lung(1)|prostate(2)	5	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGTGTTTCCGTGCAAGTGGG	0.637													G||||G|||	1|1	0.000264901|0.000264901	0.0|0.0	0.0014|0.0014	3775|3775	,|,	,|,		13383|13383	0.0|0.0		0.0|0.0	False|False		,,,|,,,				2504|2504	0.0|0.0					ENST00000369982.4																			0				breast(1)|large_intestine(1)|lung(1)|prostate(2)	5						c.(97-99)Gtg>Ttg		transmembrane protein 187							60.0	61.0	61.0					X																	153247610		2203	4300	6503	SO:0001583	missense	8269					integral to membrane|transport vesicle		g.chrX:153247610G>T	X92475	CCDS14739.1	Xq28	2007-03-14	2007-03-14	2007-03-14	ENSG00000177854	ENSG00000177854			13705	protein-coding gene	gene with protein product		300059	"""chromosome X open reading frame 12"""	CXorf12		8661027	Standard	NM_003492		Approved	ITBA1, DXS9878E	uc004fjq.2	Q14656	OTTHUMG00000024220	ENST00000369982.4:c.97G>T	X.37:g.153247610G>T	ENSP00000358999:p.Val33Leu						p.V33L	NM_003492.2	NP_003483.1	Q14656	TM187_HUMAN			2	844	+	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		33					B2RC47|Q6IAV7	Missense_Mutation	SNP	ENST00000369982.4	37	c.97G>T	CCDS14739.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	13.80	2.346349	0.41599	.	.	ENSG00000177854	ENST00000369982;ENST00000425274;ENST00000431598	T;T	0.32272	1.46;1.46	4.27	-0.957	0.10350	.	0.962934	0.08356	U	0.958427	T	0.32041	0.0816	M	0.76002	2.32	0.09310	N	1	P	0.37141	0.584	B	0.34180	0.177	T	0.31558	-0.9939	10	0.56958	D	0.05	.	9.3406	0.38079	0.7024:0.0:0.2976:0.0	.	33	Q14656	TM187_HUMAN	L	33	ENSP00000358999:V33L;ENSP00000390108:V33L	ENSP00000358999:V33L	V	+	1	0	TMEM187	152900804	0.001000	0.12720	0.000000	0.03702	0.009000	0.06853	0.290000	0.18975	-0.129000	0.11620	0.436000	0.28706	GTG		0.637	TMEM187-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061093.1	NM_003492		17	17	1	0	2.4624e-09	1	2.91548e-09	17	17				
RHOT1	55288	broad.mit.edu	37	17	30538143	30538143	+	Intron	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr17:30538143G>A	ENST00000333942.6	+	18	1978				RHOT1_ENST00000545287.2_Missense_Mutation_p.R583Q|RHOT1_ENST00000358365.3_Missense_Mutation_p.R615Q|RHOT1_ENST00000394692.2_Intron|RHOT1_ENST00000583994.1_Intron|RHOT1_ENST00000354266.3_Intron	NM_018307.3	NP_060777.3	Q8IXI2	MIRO1_HUMAN	ras homolog family member T1						cellular homeostasis (GO:0019725)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrion transport along microtubule (GO:0047497)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)				AGCCATGCCCGGTTACGCTGT	0.428																																						ENST00000358365.3																			0				NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						c.(1843-1845)cGg>cAg		ras homolog family member T1							158.0	145.0	149.0					17																	30538143		2203	4300	6503	SO:0001627	intron_variant	55288				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding	g.chr17:30538143G>A	AJ517412	CCDS32610.1, CCDS32611.1, CCDS32612.1, CCDS74030.1, CCDS74031.1	17q11.2-q12	2013-01-10	2012-02-27	2004-03-24		ENSG00000126858		"""EF-hand domain containing"""	21168	protein-coding gene	gene with protein product	"""mitochondrial Rho (MIRO) GTPase 1"""	613888	"""ras homolog gene family, member T1"""	ARHT1		12482879	Standard	NM_001033567		Approved	MIRO-1, FLJ11040	uc002hgw.3	Q8IXI2		ENST00000333942.6:c.1739+2815G>A	17.37:g.30538143G>A						RHOT1_ENST00000394692.2_Intron|RHOT1_ENST00000333942.6_Intron|RHOT1_ENST00000354266.3_Intron|RHOT1_ENST00000583994.1_Intron|RHOT1_ENST00000545287.2_Missense_Mutation_p.R583Q	p.R615Q	NM_001033568.1	NP_001028740.1	Q8IXI2	MIRO1_HUMAN			20	2071	+		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)	0					A4FVB6|A6NFV0|B4DG48|J9JIH9|Q6NUR3|Q6P9F8|Q6PJG1|Q6YMW8|Q86UB0|Q8IW28|Q8IXJ7|Q9H067|Q9H9N8|Q9NUZ2	Missense_Mutation	SNP	ENST00000333942.6	37	c.1844G>A	CCDS32612.1	.	.	.	.	.	.	.	.	.	.	G	14.83	2.653214	0.47362	.	.	ENSG00000126858	ENST00000358365;ENST00000354266	T	0.79247	-1.25	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.82669	0.5087	L	0.29908	0.895	0.53688	D	0.999973	D;D	0.71674	0.997;0.998	D;D	0.75484	0.964;0.986	T	0.80400	-0.1398	10	0.33940	T	0.23	-7.1946	19.9823	0.97331	0.0:0.0:1.0:0.0	.	583;615	Q8IXI2-5;Q8IXI2-3	.;.	Q	615;583	ENSP00000351132:R615Q	ENSP00000346215:R583Q	R	+	2	0	RHOT1	27562256	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.386000	0.97228	2.788000	0.95919	0.650000	0.86243	CGG		0.428	RHOT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000447097.1	NM_018307		3	149	0	0	0	1	0	3	149				
MKL1	57591	broad.mit.edu	37	22	40820338	40820338	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr22:40820338C>T	ENST00000355630.3	-	8	939	c.349G>A	c.(349-351)Gag>Aag	p.E117K	MKL1_ENST00000402042.1_Missense_Mutation_p.E117K|MKL1_ENST00000396617.3_Missense_Mutation_p.E117K|MKL1_ENST00000407029.1_Missense_Mutation_p.E117K	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	117	Mediates interaction with SCAI and ACTB. {ECO:0000250}.				negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						CTGCTGTCCTCATCGAAGGAA	0.587			T	RBM15	acute megakaryocytic leukemia																																	ENST00000396617.3				Dom	yes		22	22q13	57591	T	megakaryoblastic leukemia (translocation) 1			L	RBM15		acute megakaryocytic leukemia		0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						c.(349-351)Gag>Aag		megakaryoblastic leukemia (translocation) 1							90.0	74.0	80.0					22																	40820338		2203	4300	6503	SO:0001583	missense	57591				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity	g.chr22:40820338C>T	AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"""megakaryocytic acute leukemia"", ""myocardin-related transcription factor A"", ""basic, SAP and coiled-coil domain"""	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146	ENST00000355630.3:c.349G>A	22.37:g.40820338C>T	ENSP00000347847:p.Glu117Lys					MKL1_ENST00000355630.3_Missense_Mutation_p.E117K|MKL1_ENST00000407029.1_Missense_Mutation_p.E117K|MKL1_ENST00000402042.1_Missense_Mutation_p.E117K	p.E117K			Q969V6	MKL1_HUMAN			8	939	-			117			Mediates interaction with SCAI and ACTB (By similarity).		Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Missense_Mutation	SNP	ENST00000355630.3	37	c.349G>A	CCDS14003.1	.	.	.	.	.	.	.	.	.	.	C	37	6.267213	0.97426	.	.	ENSG00000196588	ENST00000355630;ENST00000396617;ENST00000402042;ENST00000407029	D;D;D;D	0.99850	-7.16;-7.16;-7.16;-7.16	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	D	0.99792	0.9912	M	0.76727	2.345	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.997	D;D;D	0.73380	0.955;0.98;0.98	D	0.97521	1.0073	10	0.66056	D	0.02	-37.932	20.0246	0.97519	0.0:1.0:0.0:0.0	.	117;117;117	B0QY83;E7ER32;Q969V6	.;.;MKL1_HUMAN	K	117	ENSP00000347847:E117K;ENSP00000379861:E117K;ENSP00000385584:E117K;ENSP00000385835:E117K	ENSP00000347847:E117K	E	-	1	0	MKL1	39150284	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	7.813000	0.86123	2.750000	0.94351	0.561000	0.74099	GAG		0.587	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831		3	56	0	0	0	1	0	3	56				
KIAA1024	23251	broad.mit.edu	37	15	79749416	79749416	+	Silent	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr15:79749416C>T	ENST00000305428.3	+	2	1002	c.927C>T	c.(925-927)aaC>aaT	p.N309N		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	309						integral component of membrane (GO:0016021)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						TGCCCTATAACAGCCAGTACC	0.507																																						ENST00000305428.3																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						c.(925-927)aaC>aaT		KIAA1024							132.0	141.0	138.0					15																	79749416		2196	4293	6489	SO:0001819	synonymous_variant	23251					integral to membrane		g.chr15:79749416C>T	AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.927C>T	15.37:g.79749416C>T							p.N309N	NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN			2	1002	+			309					A7MD43	Silent	SNP	ENST00000305428.3	37	c.927C>T	CCDS32306.1																																																																																				0.507	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416718.1	NM_015206		12	83	0	0	0	1	0	12	83				
SPRY1	10252	broad.mit.edu	37	4	124323146	124323146	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr4:124323146G>A	ENST00000394339.2	+	2	740	c.400G>A	c.(400-402)Gga>Aga	p.G134R	SPRY1_ENST00000339241.1_Missense_Mutation_p.G134R	NM_001258039.1|NM_005841.2	NP_001244968.1|NP_005832.1	O43609	SPY1_HUMAN	sprouty homolog 1, antagonist of FGF signaling (Drosophila)	134					epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				NS(1)|large_intestine(4)|lung(2)|ovary(1)|skin(3)	11						TTCTGAACAGGGACTGTTAGG	0.542																																						ENST00000394339.2																			0				NS(1)|large_intestine(4)|lung(2)|ovary(1)|skin(3)	11						c.(400-402)Gga>Aga		sprouty homolog 1, antagonist of FGF signaling (Drosophila)							59.0	61.0	60.0					4																	124323146		2203	4300	6503	SO:0001583	missense	10252				epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|lamellipodium|plasma membrane		g.chr4:124323146G>A	AF041037	CCDS3731.1	4q	2009-04-17	2001-11-28		ENSG00000164056	ENSG00000164056			11269	protein-coding gene	gene with protein product		602465	"""sprouty (Drosophila) homolog 1 (antagonist of FGF signaling)"""			9458049, 15962011	Standard	NM_001258038		Approved	hSPRY1	uc003ifa.4	O43609	OTTHUMG00000133071	ENST00000394339.2:c.400G>A	4.37:g.124323146G>A	ENSP00000377871:p.Gly134Arg					SPRY1_ENST00000339241.1_Missense_Mutation_p.G134R	p.G134R	NM_001258039.1|NM_005841.2	NP_001244968.1|NP_005832.1	O43609	SPY1_HUMAN			2	740	+			134					D3DNX6|Q6PNE0	Missense_Mutation	SNP	ENST00000394339.2	37	c.400G>A	CCDS3731.1	.	.	.	.	.	.	.	.	.	.	G	7.289	0.610775	0.14066	.	.	ENSG00000164056	ENST00000339241;ENST00000507703;ENST00000394339	T;T;T	0.49432	0.78;2.11;0.78	5.06	4.19	0.49359	.	0.065235	0.64402	D	0.000011	T	0.40247	0.1109	N	0.14661	0.345	0.58432	D	0.999994	D	0.54047	0.964	P	0.50860	0.652	T	0.21621	-1.0240	9	.	.	.	-16.1803	14.9998	0.71462	0.0:0.1433:0.8567:0.0	.	134	O43609	SPY1_HUMAN	R	134	ENSP00000343785:G134R;ENSP00000421036:G134R;ENSP00000377871:G134R	.	G	+	1	0	SPRY1	124542596	1.000000	0.71417	0.994000	0.49952	0.954000	0.61252	5.839000	0.69395	1.302000	0.44855	0.561000	0.74099	GGA		0.542	SPRY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256711.1			6	72	0	0	0	1	0	6	72				
ZNF396	252884	broad.mit.edu	37	18	32949435	32949435	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr18:32949435T>C	ENST00000589332.1	-	4	883	c.752A>G	c.(751-753)cAg>cGg	p.Q251R	ZNF396_ENST00000306346.1_Missense_Mutation_p.Q251R			Q96N95	ZN396_HUMAN	zinc finger protein 396	251					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|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(1)|lung(2)|pancreas(1)	7						ATCACATTTCTGTTGTTTTTT	0.398																																						ENST00000306346.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	7						c.(751-753)cAg>cGg		zinc finger protein 396							213.0	208.0	210.0					18																	32949435		2203	4300	6503	SO:0001583	missense	252884				viral reproduction	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:32949435T>C	AK055775	CCDS11913.1	18p12	2013-01-09			ENSG00000186496	ENSG00000186496		"""-"", ""Zinc fingers, C2H2-type"""	18824	protein-coding gene	gene with protein product		609600					Standard	NM_145756		Approved	ZSCAN14, FLJ31213	uc010xcf.1	Q96N95	OTTHUMG00000132562	ENST00000589332.1:c.752A>G	18.37:g.32949435T>C	ENSP00000466500:p.Gln251Arg					ZNF396_ENST00000589332.1_Missense_Mutation_p.Q251R	p.Q251R	NM_145756.2	NP_665699.1	Q96N95	ZN396_HUMAN			4	883	-			251					A1L3V0|Q8NF98|Q8TD80	Missense_Mutation	SNP	ENST00000589332.1	37	c.752A>G		.	.	.	.	.	.	.	.	.	.	T	7.388	0.630243	0.14257	.	.	ENSG00000186496	ENST00000306346;ENST00000399057	T	0.27720	1.65	4.75	3.59	0.41128	.	0.905972	0.09062	U	0.854115	T	0.17916	0.0430	N	0.08118	0	0.19575	N	0.999965	B	0.02656	0.0	B	0.01281	0.0	T	0.20806	-1.0264	10	0.72032	D	0.01	.	8.6956	0.34293	0.0:0.0918:0.0:0.9082	.	251	Q96N95-3	.	R	251	ENSP00000302310:Q251R	ENSP00000302310:Q251R	Q	-	2	0	ZNF396	31203433	0.002000	0.14202	0.797000	0.32132	0.150000	0.21749	0.854000	0.27791	0.945000	0.37605	0.528000	0.53228	CAG		0.398	ZNF396-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255766.1	NM_145756		3	103	0	0	0	1	0	3	103				
PLA2G4C	8605	broad.mit.edu	37	19	48571078	48571078	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr19:48571078C>T	ENST00000599921.1	-	13	1429	c.1072G>A	c.(1072-1074)Ggg>Agg	p.G358R	PLA2G4C_ENST00000354276.3_Missense_Mutation_p.G358R|PLA2G4C_ENST00000599111.1_Missense_Mutation_p.G368R|PLA2G4C_ENST00000596510.1_5'UTR|PLA2G4C_ENST00000413144.2_Missense_Mutation_p.G358R|CTD-2265M8.2_ENST00000596552.1_RNA			Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	358	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|parturition (GO:0007567)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		TGAGTGGTCCCCCATTCCCAC	0.532																																						ENST00000354276.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38						c.(1072-1074)Ggg>Agg		phospholipase A2, group IVC (cytosolic, calcium-independent)							334.0	328.0	330.0					19																	48571078		2203	4300	6503	SO:0001583	missense	8605				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding	g.chr19:48571078C>T	AF065214	CCDS12710.1, CCDS54286.1, CCDS59403.1	19q13.3	2008-09-19					3.1.1.4		9037	protein-coding gene	gene with protein product		603602				9705332	Standard	NM_003706		Approved	cPLA2-gamma	uc002phx.3	Q9UP65		ENST00000599921.1:c.1072G>A	19.37:g.48571078C>T	ENSP00000469473:p.Gly358Arg					PLA2G4C_ENST00000599921.1_Missense_Mutation_p.G358R|PLA2G4C_ENST00000413144.2_Missense_Mutation_p.G358R|PLA2G4C_ENST00000599111.1_Missense_Mutation_p.G368R|PLA2G4C_ENST00000596510.1_5'UTR	p.G358R	NM_001159323.1	NP_001152795.1	Q9UP65	PA24C_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)	13	1399	-		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)	358			PLA2c.		B2RB71|B4DI40|O75457|Q6IBI8|Q9UG68	Missense_Mutation	SNP	ENST00000599921.1	37	c.1072G>A	CCDS12710.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.026390	0.54683	.	.	ENSG00000105499	ENST00000354276;ENST00000413144	T;T	0.05081	3.5;3.5	2.78	2.78	0.32641	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (2);	0.202214	0.29486	U	0.012014	T	0.19725	0.0474	M	0.69823	2.125	0.34046	D	0.655589	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.16158	-1.0412	10	0.48119	T	0.1	-12.9655	9.3009	0.37845	0.0:1.0:0.0:0.0	.	368;358	B4DI40;Q9UP65	.;PA24C_HUMAN	R	358	ENSP00000346228:G358R;ENSP00000400036:G358R	ENSP00000346228:G358R	G	-	1	0	PLA2G4C	53262890	1.000000	0.71417	0.675000	0.29917	0.134000	0.20937	2.909000	0.48758	1.271000	0.44313	0.205000	0.17691	GGG		0.532	PLA2G4C-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465551.1			6	611	0	0	0	1	0	6	611				
HELZ	9931	broad.mit.edu	37	17	65184580	65184580	+	Silent	SNP	T	T	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr17:65184580T>C	ENST00000358691.5	-	12	1183	c.1017A>G	c.(1015-1017)caA>caG	p.Q339Q	HELZ_ENST00000580168.1_Silent_p.Q339Q|HELZ_ENST00000580662.1_5'Flank	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	339						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					CTAATCCATTTTGGGCCATCT	0.383																																						ENST00000358691.5																			0				NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(1015-1017)caA>caG		helicase with zinc finger							280.0	265.0	270.0					17																	65184580		1886	4109	5995	SO:0001819	synonymous_variant	9931							g.chr17:65184580T>C	D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"""Zinc fingers, CCCH-type domain containing"""	16878	protein-coding gene	gene with protein product	"""down-regulated in human cancers"""	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.1017A>G	17.37:g.65184580T>C						HELZ_ENST00000580168.1_Silent_p.Q339Q	p.Q339Q	NM_014877.3	NP_055692.2					12	1183	-	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)							I6L9H4	Silent	SNP	ENST00000358691.5	37	c.1017A>G	CCDS42374.1																																																																																				0.383	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	NM_014877		56	212	0	0	0	1	0	56	212				
ZNF556	80032	broad.mit.edu	37	19	2873557	2873557	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr19:2873557C>T	ENST00000307635.2	+	2	154	c.67C>T	c.(67-69)Cct>Tct	p.P23S	ZNF556_ENST00000586426.1_Missense_Mutation_p.P23S|AC006130.1_ENST00000579582.1_RNA	NM_024967.1	NP_079243.1	Q9HAH1	ZN556_HUMAN	zinc finger protein 556	23	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTGCTGAATCCTGCTCAGAG	0.463																																						ENST00000586426.1																			0				endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31						c.(67-69)Cct>Tct		zinc finger protein 556							193.0	172.0	179.0					19																	2873557		2203	4300	6503	SO:0001583	missense	80032				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2873557C>T	BC009374	CCDS12097.1, CCDS74254.1	19p13.3	2013-09-20			ENSG00000172000	ENSG00000172000		"""Zinc fingers, C2H2-type"", ""-"""	25669	protein-coding gene	gene with protein product						12477932	Standard	XM_005259647		Approved	FLJ11637	uc002lwp.1	Q9HAH1	OTTHUMG00000180501	ENST00000307635.2:c.67C>T	19.37:g.2873557C>T	ENSP00000302603:p.Pro23Ser					ZNF556_ENST00000307635.2_Missense_Mutation_p.P23S	p.P23S			Q9HAH1	ZN556_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	154	+			23			KRAB.		Q96GM3	Missense_Mutation	SNP	ENST00000307635.2	37	c.67C>T	CCDS12097.1	.	.	.	.	.	.	.	.	.	.	C	0.206	-1.040726	0.02013	.	.	ENSG00000172000	ENST00000307635	T	0.02280	4.36	2.55	-1.85	0.07784	Krueppel-associated box (4);	.	.	.	.	T	0.02970	0.0088	N	0.20574	0.59	0.09310	N	1	P	0.52316	0.952	P	0.55260	0.772	T	0.45234	-0.9275	9	0.35671	T	0.21	.	7.0224	0.24922	0.1843:0.2682:0.5475:0.0	.	23	Q9HAH1	ZN556_HUMAN	S	23	ENSP00000302603:P23S	ENSP00000302603:P23S	P	+	1	0	ZNF556	2824557	0.000000	0.05858	0.000000	0.03702	0.137000	0.21094	-1.528000	0.02225	-0.653000	0.05401	0.407000	0.27541	CCT		0.463	ZNF556-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451638.2	NM_024967		4	146	0	0	0	1	0	4	146				
ABHD6	57406	broad.mit.edu	37	3	58270856	58270856	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr3:58270856C>A	ENST00000478253.1	+	8	1227	c.726C>A	c.(724-726)ttC>ttA	p.F242L	ABHD6_ENST00000295962.4_Missense_Mutation_p.F242L			Q9BV23	ABHD6_HUMAN	abhydrolase domain containing 6	242					long term synaptic depression (GO:0060292)|negative regulation of cell migration (GO:0030336)|regulation of endocannabinoid signaling pathway (GO:2000124)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acylglycerol lipase activity (GO:0047372)			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	16				BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209)		ATAACAACTTCTACCGAAAGT	0.423																																						ENST00000478253.1																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	16						c.(724-726)ttC>ttA		abhydrolase domain containing 6							127.0	109.0	115.0					3																	58270856		2203	4300	6503	SO:0001583	missense	57406					integral to membrane	acylglycerol lipase activity	g.chr3:58270856C>A	AF225418	CCDS2887.1	3p21.2	2006-03-10			ENSG00000163686	ENSG00000163686		"""Abhydrolase domain containing"""	21398	protein-coding gene	gene with protein product							Standard	NM_020676		Approved		uc003djs.4	Q9BV23	OTTHUMG00000159150	ENST00000478253.1:c.726C>A	3.37:g.58270856C>A	ENSP00000420315:p.Phe242Leu					ABHD6_ENST00000295962.4_Missense_Mutation_p.F242L	p.F242L			Q9BV23	ABHD6_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209)	8	1227	+			242					B2R7Y9|Q6ZMF7	Missense_Mutation	SNP	ENST00000478253.1	37	c.726C>A	CCDS2887.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.319498	0.81469	.	.	ENSG00000163686	ENST00000478253;ENST00000295962;ENST00000511761	T;T	0.75821	-0.97;-0.97	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.76513	0.3998	L	0.39514	1.22	0.52501	D	0.999959	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.98	T	0.71297	-0.4635	10	0.15952	T	0.53	-0.0317	7.7879	0.29103	0.0:0.8033:0.0:0.1967	.	242;242	Q9BV23;F5H7L1	ABHD6_HUMAN;.	L	242	ENSP00000420315:F242L;ENSP00000295962:F242L	ENSP00000295962:F242L	F	+	3	2	ABHD6	58245896	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.711000	0.25764	2.666000	0.90696	0.655000	0.94253	TTC		0.423	ABHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353511.1	NM_020676		3	77	1	0	0.150653	1	0.15377	3	77				
HMGN2	3151	broad.mit.edu	37	1	26801118	26801118	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr1:26801118G>A	ENST00000361427.5	+	5	291	c.197G>A	c.(196-198)gGg>gAg	p.G66E	HMGN2_ENST00000493418.1_3'UTR	NM_005517.3	NP_005508.1	P05204	HMGN2_HUMAN	high mobility group nucleosomal binding domain 2	66						chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|lung(2)	3		all_cancers(24;1.9e-24)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.38e-49)|OV - Ovarian serous cystadenocarcinoma(117;5.38e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.026)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)		GGCAAGGAGGGGAATAACCCT	0.413																																						ENST00000361427.5																			0				breast(1)|lung(2)	3						c.(196-198)gGg>gAg		high mobility group nucleosomal binding domain 2							32.0	35.0	34.0					1																	26801118		2195	4296	6491	SO:0001583	missense	3151				chromatin organization|regulation of transcription, DNA-dependent	chromatin|cytoplasm|nucleus	DNA binding|protein binding	g.chr1:26801118G>A	BC081567	CCDS283.1	1p36.1	2011-07-01	2011-04-05	2002-08-16	ENSG00000198830	ENSG00000198830		"""High-mobility group / Canonical"""	4986	protein-coding gene	gene with protein product		163910	"""high-mobility group (nonhistone chromosomal) protein 17"", ""high-mobility group nucleosomal binding domain 2"""	HMG17		2037294	Standard	NM_005517		Approved		uc001bmp.4	P05204	OTTHUMG00000003555	ENST00000361427.5:c.197G>A	1.37:g.26801118G>A	ENSP00000355228:p.Gly66Glu					HMGN2_ENST00000493418.1_3'UTR	p.G66E	NM_005517.3	NP_005508.1	P05204	HMGN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.38e-49)|OV - Ovarian serous cystadenocarcinoma(117;5.38e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.026)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)	5	291	+		all_cancers(24;1.9e-24)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	66					Q0VGD5|Q6FGI5|Q96C64	Missense_Mutation	SNP	ENST00000361427.5	37	c.197G>A	CCDS283.1	.	.	.	.	.	.	.	.	.	.	G	16.68	3.191839	0.58017	.	.	ENSG00000198830	ENST00000361427	.	.	.	5.65	4.72	0.59763	.	0.591244	0.13227	U	0.403970	T	0.59459	0.2195	.	.	.	0.31110	N	0.710101	D	0.58620	0.983	P	0.52646	0.705	T	0.65030	-0.6267	8	0.66056	D	0.02	.	15.667	0.77238	0.0:0.1421:0.8579:0.0	.	66	P05204	HMGN2_HUMAN	E	66	.	ENSP00000355228:G66E	G	+	2	0	HMGN2	26673705	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.106000	0.64597	1.485000	0.48380	0.655000	0.94253	GGG		0.413	HMGN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009901.1	NM_005517		12	19	0	0	0	1	0	12	19				
MARCH6	10299	broad.mit.edu	37	5	10417514	10417514	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr5:10417514C>A	ENST00000274140.5	+	22	2413	c.2281C>A	c.(2281-2283)Cag>Aag	p.Q761K	MARCH6_ENST00000449913.2_Missense_Mutation_p.Q713K|MARCH6_ENST00000503788.1_Missense_Mutation_p.Q656K|MARCH6_ENST00000510792.1_Missense_Mutation_p.Q459K	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	761					protein K48-linked ubiquitination (GO:0070936)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						TTATCCATGGCAGGTAAATGT	0.463																																						ENST00000274140.5																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						c.(2281-2283)Cag>Aag		membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase							159.0	155.0	156.0					5																	10417514		2203	4300	6503	SO:0001583	missense	10299				protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr5:10417514C>A	AB011169	CCDS34135.1, CCDS59487.1, CCDS59488.1	5p15.2	2013-01-09	2012-02-23		ENSG00000145495	ENSG00000145495		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	30550	protein-coding gene	gene with protein product		613297	"""membrane-associated ring finger (C3HC4) 6"""			14722266	Standard	NM_001270660		Approved	TEB4, MARCH-VI, RNF176	uc003jet.2	O60337	OTTHUMG00000162027	ENST00000274140.5:c.2281C>A	5.37:g.10417514C>A	ENSP00000274140:p.Gln761Lys					MARCH6_ENST00000510792.1_Missense_Mutation_p.Q459K|MARCH6_ENST00000449913.2_Missense_Mutation_p.Q713K|MARCH6_ENST00000503788.1_Missense_Mutation_p.Q656K	p.Q761K	NM_005885.2	NP_005876.2	O60337	MARH6_HUMAN			22	2413	+			761					A5PKZ4|B4DKJ2|B4DT33|D3DTC8|O14670|Q86X77	Missense_Mutation	SNP	ENST00000274140.5	37	c.2281C>A	CCDS34135.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.287826	0.80803	.	.	ENSG00000145495	ENST00000449913;ENST00000503788;ENST00000274140;ENST00000510792	T;T;T;T	0.54866	1.59;0.55;1.59;0.55	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.65585	0.2705	M	0.83774	2.66	0.80722	D	1	D;P;B;P	0.61080	0.989;0.709;0.4;0.657	P;B;B;B	0.48921	0.595;0.181;0.146;0.126	T	0.71394	-0.4606	10	0.52906	T	0.07	-11.9678	17.5484	0.87869	0.0:1.0:0.0:0.0	.	656;713;341;761	B4DKJ2;B4DT33;B2RBJ1;O60337	.;.;.;MARH6_HUMAN	K	713;656;761;459	ENSP00000414643:Q713K;ENSP00000425930:Q656K;ENSP00000274140:Q761K;ENSP00000424512:Q459K	ENSP00000274140:Q761K	Q	+	1	0	MARCH6	10470514	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.419000	0.80179	2.584000	0.87258	0.650000	0.86243	CAG		0.463	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366919.2	NM_005885		4	109	1	0	2.7689e-08	1	3.22674e-08	4	109				
CNOT4	4850	broad.mit.edu	37	7	135048745	135048745	+	Silent	SNP	A	A	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr7:135048745A>T	ENST00000451834.1	-	11	1975	c.1692T>A	c.(1690-1692)atT>atA	p.I564I	CNOT4_ENST00000361528.4_Intron|CNOT4_ENST00000473470.1_5'UTR|CNOT4_ENST00000423368.2_Intron|CNOT4_ENST00000541284.1_Silent_p.I567I			O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	0					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|protein autoubiquitination (GO:0051865)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						AGTTGATGTTAATGTTGGGTA	0.488																																					Ovarian(51;766 1130 5502 35047 50875)	ENST00000541284.1																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						c.(1699-1701)atT>atA		CCR4-NOT transcription complex, subunit 4							248.0	216.0	226.0					7																	135048745		876	1991	2867	SO:0001819	synonymous_variant	4850				nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:135048745A>T	AF180475	CCDS43650.1, CCDS47719.1, CCDS55164.1, CCDS55165.1, CCDS55166.1, CCDS55167.1	7q33	2013-09-19			ENSG00000080802	ENSG00000080802		"""RNA binding motif (RRM) containing"""	7880	protein-coding gene	gene with protein product		604911		NOT4		10637334	Standard	NM_013316		Approved	CLONE243, NOT4H	uc011kpy.2	O95628	OTTHUMG00000155568	ENST00000451834.1:c.1692T>A	7.37:g.135048745A>T						CNOT4_ENST00000423368.2_Intron|CNOT4_ENST00000451834.1_Silent_p.I564I|CNOT4_ENST00000473470.1_5'UTR|CNOT4_ENST00000361528.4_Intron	p.I567I	NM_001190849.1|NM_001190850.1	NP_001177778.1|NP_001177779.1	O95628	CNOT4_HUMAN			11	2031	-			247					B7Z6I4|E7ET38|F8VQP3|O95339|O95627|Q8IYM7|Q8NCL0|Q9NPQ1|Q9NZN6	Silent	SNP	ENST00000451834.1	37	c.1701T>A	CCDS55167.1																																																																																				0.488	CNOT4-003	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000340670.1	NM_013316		6	347	0	0	0	1	0	6	347				
HHIPL1	84439	broad.mit.edu	37	14	100129224	100129224	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr14:100129224C>G	ENST00000330710.5	+	6	1612	c.1514C>G	c.(1513-1515)tCc>tGc	p.S505C	HHIPL1_ENST00000357223.2_Missense_Mutation_p.S505C	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	505					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)|membrane (GO:0016020)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|scavenger receptor activity (GO:0005044)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				CGTCTGATGTCCCTCCAAGAG	0.572																																						ENST00000330710.5																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15						c.(1513-1515)tCc>tGc		HHIP-like 1							84.0	76.0	79.0					14																	100129224		2203	4300	6503	SO:0001583	missense	84439				carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity	g.chr14:100129224C>G	AB058725	CCDS9953.1, CCDS45162.1	14q32	2008-01-16	2008-01-16	2008-01-16		ENSG00000182218			19710	protein-coding gene	gene with protein product			"""KIAA1822"""	KIAA1822			Standard	NM_032425		Approved		uc010avs.3	Q96JK4		ENST00000330710.5:c.1514C>G	14.37:g.100129224C>G	ENSP00000330601:p.Ser505Cys					HHIPL1_ENST00000357223.2_Missense_Mutation_p.S505C	p.S505C	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN			6	1612	+		Melanoma(154;0.128)	505					A2RUF8|B2RN09|Q6UXX2	Missense_Mutation	SNP	ENST00000330710.5	37	c.1514C>G	CCDS45162.1	.	.	.	.	.	.	.	.	.	.	C	17.78	3.473248	0.63737	.	.	ENSG00000182218	ENST00000330710;ENST00000357223	T;T	0.11385	2.78;2.78	4.84	4.84	0.62591	Soluble quinoprotein glucose/sorbosone dehydrogenase (1);Glucose/Sorbosone dehydrogenase (1);Six-bladed beta-propeller, TolB-like (1);	0.280386	0.34628	N	0.003801	T	0.37865	0.1019	M	0.84219	2.685	0.38266	D	0.94202	D;D	0.89917	1.0;0.998	D;D	0.79108	0.992;0.917	T	0.47058	-0.9146	10	0.59425	D	0.04	.	17.978	0.89132	0.0:1.0:0.0:0.0	.	505;505	Q96JK4;Q96JK4-2	HIPL1_HUMAN;.	C	505	ENSP00000330601:S505C;ENSP00000349757:S505C	ENSP00000330601:S505C	S	+	2	0	HHIPL1	99198977	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	4.159000	0.58157	2.255000	0.74692	0.561000	0.74099	TCC		0.572	HHIPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413811.1	XM_041566		28	47	0	0	0	1	0	28	47				
CPB2	1361	broad.mit.edu	37	13	46632338	46632338	+	Missense_Mutation	SNP	A	A	T	rs150895932		TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr13:46632338A>T	ENST00000181383.4	-	9	991	c.975T>A	c.(973-975)agT>agA	p.S325R	CPB2-AS1_ENST00000415033.2_RNA|CPB2-AS1_ENST00000606243.1_RNA|CPB2_ENST00000439329.3_Missense_Mutation_p.S288R|CPB2-AS1_ENST00000606991.1_RNA|CPB2-AS1_ENST00000606351.1_RNA	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)	325		Cleavage; by thrombin.			blood coagulation (GO:0007596)|cellular response to glucose stimulus (GO:0071333)|fibrinolysis (GO:0042730)|liver regeneration (GO:0097421)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of plasminogen activation (GO:0010757)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to heat (GO:0009408)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		CTTTGCTTTTACTTCGTGTAT	0.328																																						ENST00000181383.4																			0				NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(973-975)agT>agA		carboxypeptidase B2 (plasma)							163.0	157.0	159.0					13																	46632338		2203	4300	6503	SO:0001583	missense	1361				blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr13:46632338A>T	M75106	CCDS9401.1, CCDS73568.1	13q14.11	2012-02-10	2007-02-21		ENSG00000080618	ENSG00000080618			2300	protein-coding gene	gene with protein product	"""thrombin-activatable fibrinolysis inhibitor"", ""carboxypeptidase U"", ""plasma carboxypeptidase B"", ""carboxypeptidase R"""	603101	"""carboxypeptidase B2 (plasma, carboxypeptidase U)"""			1939207, 1427879	Standard	NM_001278541		Approved	CPU, PCPB, TAFI	uc001vaw.3	Q96IY4	OTTHUMG00000016867	ENST00000181383.4:c.975T>A	13.37:g.46632338A>T	ENSP00000181383:p.Ser325Arg					CPB2_ENST00000439329.3_Missense_Mutation_p.S288R|CPB2-AS1_ENST00000415033.2_RNA|CPB2-AS1_ENST00000606991.1_RNA|CPB2-AS1_ENST00000606351.1_RNA|CPB2-AS1_ENST00000606243.1_RNA	p.S325R	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)	9	991	-		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	325				Cleavage; by thrombin.	A8K464|Q15114|Q5T9K1|Q5T9K2|Q9P2Y6	Missense_Mutation	SNP	ENST00000181383.4	37	c.975T>A	CCDS9401.1	.	.	.	.	.	.	.	.	.	.	A	7.261	0.605207	0.14002	.	.	ENSG00000080618	ENST00000181383;ENST00000439329	T;T	0.11821	2.74;2.74	5.86	5.02	0.67125	Peptidase M14, carboxypeptidase A (2);	0.353337	0.40144	N	0.001172	T	0.09512	0.0234	N	0.25485	0.75	0.35046	D	0.760221	B;B	0.26708	0.157;0.149	B;B	0.22880	0.038;0.042	T	0.24119	-1.0169	10	0.27785	T	0.31	.	10.0135	0.42001	0.0723:0.1365:0.7911:0.0	.	288;325	Q96IY4-2;Q96IY4	.;CBPB2_HUMAN	R	325;288	ENSP00000181383:S325R;ENSP00000400714:S288R	ENSP00000181383:S325R	S	-	3	2	CPB2	45530339	0.017000	0.18338	0.998000	0.56505	0.183000	0.23260	0.024000	0.13555	1.487000	0.48415	-0.146000	0.13790	AGT		0.328	CPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044803.2	NM_001872		5	142	0	0	0	1	0	5	142				
ZBTB26	57684	broad.mit.edu	37	9	125681478	125681478	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr9:125681478C>A	ENST00000373656.3	-	2	809	c.736G>T	c.(736-738)Ggc>Tgc	p.G246C	ZBTB26_ENST00000373654.1_Missense_Mutation_p.G246C	NM_020924.2	NP_065975.1	Q9HCK0	ZBT26_HUMAN	zinc finger and BTB domain containing 26	246					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)	11						TTATCACTGCCTGTATAAGAA	0.433																																						ENST00000373656.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)	11						c.(736-738)Ggc>Tgc		zinc finger and BTB domain containing 26							168.0	142.0	150.0					9																	125681478		2203	4300	6503	SO:0001583	missense	57684				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:125681478C>A	AB046792	CCDS6847.1	9q34.11	2013-01-08	2004-04-15	2004-04-16	ENSG00000171448	ENSG00000171448		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	23383	protein-coding gene	gene with protein product			"""zinc finger protein 481"""	ZNF481			Standard	NM_020924		Approved		uc004bnk.3	Q9HCK0	OTTHUMG00000020627	ENST00000373656.3:c.736G>T	9.37:g.125681478C>A	ENSP00000362760:p.Gly246Cys					ZBTB26_ENST00000373654.1_Missense_Mutation_p.G246C	p.G246C	NM_020924.2	NP_065975.1	Q9HCK0	ZBT26_HUMAN			2	809	-			246					B3KQ53|Q8WTR1	Missense_Mutation	SNP	ENST00000373656.3	37	c.736G>T	CCDS6847.1	.	.	.	.	.	.	.	.	.	.	C	11.82	1.752078	0.31046	.	.	ENSG00000171448	ENST00000373656;ENST00000373654	T;T	0.11169	2.8;2.8	5.52	5.52	0.82312	.	0.197468	0.43416	D	0.000574	T	0.11750	0.0286	L	0.42245	1.32	0.48696	D	0.999695	D	0.65815	0.995	B	0.43103	0.408	T	0.02138	-1.1207	10	0.41790	T	0.15	.	12.7596	0.57356	0.0:0.9255:0.0:0.0744	.	246	Q9HCK0	ZBT26_HUMAN	C	246	ENSP00000362760:G246C;ENSP00000362758:G246C	ENSP00000362758:G246C	G	-	1	0	ZBTB26	124721299	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.150000	0.42254	2.595000	0.87683	0.655000	0.94253	GGC		0.433	ZBTB26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053960.1	NM_020924		9	125	1	0	1.76689e-08	1	2.0754e-08	9	125				
PFAS	5198	broad.mit.edu	37	17	8159006	8159006	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr17:8159006C>A	ENST00000314666.6	+	5	704	c.571C>A	c.(571-573)Ctt>Att	p.L191I	PFAS_ENST00000545834.1_Intron	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	191					'de novo' IMP biosynthetic process (GO:0006189)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphoribosylformylglycinamidine synthase activity (GO:0004642)			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamine(DB00130)	CAACCAGGAGCTTGGTGAGTA	0.577																																						ENST00000314666.6																			0				central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35						c.(571-573)Ctt>Att		phosphoribosylformylglycinamidine synthase	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						45.0	44.0	44.0					17																	8159006		2203	4300	6503	SO:0001583	missense	5198				'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding	g.chr17:8159006C>A	AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	6.3.5.3		8863	protein-coding gene	gene with protein product	"""FGAR amidotransferase"""	602133				8110788	Standard	NM_012393		Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.571C>A	17.37:g.8159006C>A	ENSP00000313490:p.Leu191Ile					PFAS_ENST00000545834.1_Intron	p.L191I	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN			5	704	+			191					A6H8V8	Missense_Mutation	SNP	ENST00000314666.6	37	c.571C>A	CCDS11136.1	.	.	.	.	.	.	.	.	.	.	C	19.84	3.901599	0.72754	.	.	ENSG00000178921	ENST00000314666	T	0.34472	1.36	5.55	3.57	0.40892	.	0.000000	0.64402	D	0.000002	T	0.55561	0.1928	M	0.76170	2.325	0.80722	D	1	D	0.76494	0.999	D	0.68353	0.957	T	0.57225	-0.7848	10	0.87932	D	0	-8.8838	9.844	0.41015	0.0:0.8341:0.0:0.1659	.	191	O15067	PUR4_HUMAN	I	191	ENSP00000313490:L191I	ENSP00000313490:L191I	L	+	1	0	PFAS	8099731	1.000000	0.71417	1.000000	0.80357	0.749000	0.42624	4.097000	0.57741	0.716000	0.32124	0.462000	0.41574	CTT		0.577	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226994.2			4	23	1	0	1	1	1	4	23				
CERK	64781	broad.mit.edu	37	22	47116101	47116101	+	Silent	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr22:47116101G>A	ENST00000216264.8	-	3	373	c.261C>T	c.(259-261)caC>caT	p.H87H	CERK_ENST00000541677.1_5'UTR	NM_022766.5	NP_073603.2	Q8TCT0	CERK1_HUMAN	ceramide kinase	87	Required for binding to sulfatide and phosphoinositides.				ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|lipid phosphorylation (GO:0046834)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ceramide kinase activity (GO:0001729)|diacylglycerol kinase activity (GO:0004143)|magnesium ion binding (GO:0000287)|NAD+ kinase activity (GO:0003951)			cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TCTTTACACAGTGAACTGCAC	0.522																																						ENST00000216264.8																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20						c.(259-261)caC>caT		ceramide kinase							70.0	61.0	64.0					22																	47116101		2203	4300	6503	SO:0001819	synonymous_variant	64781				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|ceramide metabolic process	integral to membrane of membrane fraction|membrane|nucleus	ATP binding|ceramide kinase activity|diacylglycerol kinase activity|magnesium ion binding	g.chr22:47116101G>A	AB079066	CCDS14077.1	22q13.31	2008-06-10			ENSG00000100422	ENSG00000100422			19256	protein-coding gene	gene with protein product		610307				11956206, 11258795	Standard	NM_022766		Approved	hCERK, FLJ23239, dA59H18.3, DKFZp434E0211, FLJ21430, KIAA1646, LK4, dA59H18.2	uc003bia.3	Q8TCT0	OTTHUMG00000150395	ENST00000216264.8:c.261C>T	22.37:g.47116101G>A						CERK_ENST00000541677.1_5'UTR	p.H87H	NM_022766.5	NP_073603.2	Q8TCT0	CERK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)	3	373	-		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)	87			Required for binding to sulfatide and phosphoinositides.		A0JNT4|A8K611|Q6NX59|Q9BYB3|Q9UGE5	Silent	SNP	ENST00000216264.8	37	c.261C>T	CCDS14077.1																																																																																				0.522	CERK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317924.2	NM_022766		16	23	0	0	0	1	0	16	23				
ACSL3	2181	broad.mit.edu	37	2	223782769	223782769	+	Missense_Mutation	SNP	A	A	T	rs375127172		TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr2:223782769A>T	ENST00000357430.3	+	6	1093	c.562A>T	c.(562-564)Aca>Tca	p.T188S	ACSL3_ENST00000392066.3_Missense_Mutation_p.T188S|AC097461.4_ENST00000446709.1_RNA	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	188					brain development (GO:0007420)|fatty acid biosynthetic process (GO:0006633)|long-chain fatty acid import (GO:0044539)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)|positive regulation of phosphatidylcholine biosynthetic process (GO:2001247)|positive regulation of secretion (GO:0051047)|response to nutrient (GO:0007584)|response to organic cyclic compound (GO:0014070)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	TTTAGTTGTTACATTATATGC	0.348			T	ETV1	prostate																																	ENST00000357430.3				Dom	yes		2	2q36	2181	T	acyl-CoA synthetase long-chain family member 3			E	ETV1		prostate		0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22						c.(562-564)Aca>Tca		acyl-CoA synthetase long-chain family member 3	Icosapent(DB00159)						120.0	116.0	118.0					2																	223782769		2203	4300	6503	SO:0001583	missense	2181				long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding	g.chr2:223782769A>T	D89053	CCDS2455.1	2q34-q35	2008-02-05	2004-02-19	2004-02-20	ENSG00000123983	ENSG00000123983		"""Acyl-CoA synthetase family"""	3570	protein-coding gene	gene with protein product		602371	"""fatty-acid-Coenzyme A ligase, long-chain 3"""	FACL3			Standard	NM_004457		Approved	ACS3, PRO2194	uc002vnj.3	O95573	OTTHUMG00000133160	ENST00000357430.3:c.562A>T	2.37:g.223782769A>T	ENSP00000350012:p.Thr188Ser					AC097461.4_ENST00000446709.1_RNA|ACSL3_ENST00000392066.3_Missense_Mutation_p.T188S	p.T188S	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	6	1093	+		Renal(207;0.0183)	188					Q60I92|Q8IUM9	Missense_Mutation	SNP	ENST00000357430.3	37	c.562A>T	CCDS2455.1	.	.	.	.	.	.	.	.	.	.	A	27.6	4.846478	0.91277	.	.	ENSG00000123983	ENST00000357430;ENST00000392066;ENST00000540115	T;T;T	0.43294	0.95;0.95;0.95	5.22	5.22	0.72569	AMP-dependent synthetase/ligase (1);	0.097447	0.64402	D	0.000001	T	0.58963	0.2159	L	0.61036	1.89	0.80722	D	1	D	0.59357	0.985	D	0.66847	0.947	T	0.54642	-0.8263	10	0.25106	T	0.35	-17.5461	15.2561	0.73585	1.0:0.0:0.0:0.0	.	188	O95573	ACSL3_HUMAN	S	188;188;36	ENSP00000350012:T188S;ENSP00000375918:T188S;ENSP00000441643:T36S	ENSP00000350012:T188S	T	+	1	0	ACSL3	223491013	1.000000	0.71417	0.996000	0.52242	0.980000	0.70556	8.757000	0.91657	2.185000	0.69588	0.533000	0.62120	ACA		0.348	ACSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256862.2	NM_004457		5	67	0	0	0	1	0	5	67				
ITIH4	3700	broad.mit.edu	37	3	52858969	52858969	+	Silent	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr3:52858969C>T	ENST00000266041.4	-	7	861	c.765G>A	c.(763-765)gaG>gaA	p.E255E	ITIH4_ENST00000434759.3_Silent_p.E167E|ITIH4_ENST00000467462.1_5'Flank|ITIH4_ENST00000346281.5_Silent_p.E255E|ITIH4-AS1_ENST00000478366.1_RNA|RP5-966M1.6_ENST00000468472.1_3'UTR|ITIH4_ENST00000485816.1_Silent_p.E255E|ITIH4_ENST00000406595.1_Silent_p.E255E	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	255					acute-phase response (GO:0006953)|hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)|response to cytokine (GO:0034097)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		AGTAGCCGTTCTCGATCTGTG	0.537																																						ENST00000266041.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30						c.(763-765)gaG>gaA		inter-alpha-trypsin inhibitor heavy chain family, member 4							87.0	80.0	83.0					3																	52858969		2203	4300	6503	SO:0001819	synonymous_variant	3700				acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:52858969C>T	D38535	CCDS2865.1, CCDS54596.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055955	ENSG00000055955			6169	protein-coding gene	gene with protein product	"""plasma Kallikrein-sensitive glycoprotein"""	600564	"""inter-alpha (globulin) inhibitor H4 (plasma Kallikrein-sensitive glycoprotein)"""	ITIHL1		9480842, 7805892	Standard	NM_002218		Approved	IHRP, H4P	uc003dfz.3	Q14624	OTTHUMG00000159023	ENST00000266041.4:c.765G>A	3.37:g.52858969C>T						ITIH4_ENST00000485816.1_Silent_p.E255E|ITIH4_ENST00000346281.5_Silent_p.E255E|ITIH4_ENST00000406595.1_Silent_p.E255E|ITIH4-AS1_ENST00000478366.1_RNA|ITIH4_ENST00000434759.3_Silent_p.E167E	p.E255E	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)	7	861	-			255					B7Z545|E9PGN5|Q15135|Q9P190|Q9UQ54	Silent	SNP	ENST00000266041.4	37	c.765G>A	CCDS2865.1	.	.	.	.	.	.	.	.	.	.	C	5.442	0.266638	0.10294	.	.	ENSG00000055955	ENST00000441637	T	0.01902	4.57	5.6	4.72	0.59763	.	0.302294	0.28778	N	0.014179	T	0.05593	0.0147	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41197	-0.9522	7	0.42905	T	0.14	-42.6212	9.7155	0.40272	0.0:0.6833:0.2426:0.0741	.	.	.	.	K	113	ENSP00000395634:E113K	ENSP00000395634:E113K	E	-	1	0	ITIH4	52834009	0.990000	0.36364	0.999000	0.59377	0.643000	0.38383	0.371000	0.20450	1.380000	0.46344	0.561000	0.74099	GAA		0.537	ITIH4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317715.1	NM_002218		6	9	0	0	0	1	0	6	9				
ZNF749	388567	broad.mit.edu	37	19	57956390	57956390	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr19:57956390G>A	ENST00000334181.4	+	3	2124	c.1874G>A	c.(1873-1875)tGt>tAt	p.C625Y	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	625					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		AGATATCGCTGTACACTGAGT	0.353																																						ENST00000334181.4																			0				breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13						c.(1873-1875)tGt>tAt		zinc finger protein 749							62.0	65.0	64.0					19																	57956390		2203	4300	6503	SO:0001583	missense	388567				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57956390G>A	AK122740	CCDS33132.2	19q13.43	2013-01-08			ENSG00000186230	ENSG00000186230		"""Zinc fingers, C2H2-type"", ""-"""	32783	protein-coding gene	gene with protein product							Standard	NM_001023561		Approved	FLJ16360	uc002qoq.2	O43361	OTTHUMG00000150372	ENST00000334181.4:c.1874G>A	19.37:g.57956390G>A	ENSP00000333980:p.Cys625Tyr					AC004076.9_ENST00000596831.1_Intron	p.C625Y	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)	3	2124	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	625						Missense_Mutation	SNP	ENST00000334181.4	37	c.1874G>A	CCDS33132.2	.	.	.	.	.	.	.	.	.	.	G	11.94	1.787883	0.31593	.	.	ENSG00000186230	ENST00000334181	T	0.14391	2.51	2.36	-0.0525	0.13822	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04952	0.0133	N	0.02286	-0.61	0.09310	N	1	B	0.10296	0.003	B	0.01281	0.0	T	0.37572	-0.9700	9	0.48119	T	0.1	.	5.7738	0.18267	0.0:0.6603:0.2097:0.13	.	625	O43361	ZN749_HUMAN	Y	625	ENSP00000333980:C625Y	ENSP00000333980:C625Y	C	+	2	0	ZNF749	62648202	0.000000	0.05858	0.000000	0.03702	0.288000	0.27193	-2.524000	0.00948	-0.072000	0.12864	0.313000	0.20887	TGT		0.353	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317879.1	NM_001023561		3	88	0	0	0	1	0	3	88				
ZNF256	10172	broad.mit.edu	37	19	58452560	58452560	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr19:58452560C>A	ENST00000282308.3	-	3	1812	c.1616G>T	c.(1615-1617)aGa>aTa	p.R539I	ZNF256_ENST00000598928.1_3'UTR	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	539					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|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)			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		GGTGTGACTTCTCCTATGTCT	0.463																																					NSCLC(55;1313 1552 8040 11996)	ENST00000282308.3																			0				endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1615-1617)aGa>aTa		zinc finger protein 256							68.0	59.0	62.0					19																	58452560		2203	4300	6503	SO:0001583	missense	10172				multicellular organismal development|negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58452560C>A	AF067165	CCDS12966.1	19q13	2013-01-08				ENSG00000152454		"""Zinc fingers, C2H2-type"", ""-"""	13049	protein-coding gene	gene with protein product		606956					Standard	NM_005773		Approved	BMZF-3	uc002qqu.3	Q9Y2P7		ENST00000282308.3:c.1616G>T	19.37:g.58452560C>A	ENSP00000282308:p.Arg539Ile					ZNF256_ENST00000598928.1_3'UTR	p.R539I	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)	3	1812	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	539					B2RA92|Q53Y85|Q9BV71	Missense_Mutation	SNP	ENST00000282308.3	37	c.1616G>T	CCDS12966.1	.	.	.	.	.	.	.	.	.	.	.	17.09	3.299720	0.60195	.	.	ENSG00000152454	ENST00000282308	T	0.24908	1.83	2.84	0.461	0.16689	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.46132	0.1377	M	0.80616	2.505	0.09310	N	1	D	0.89917	1.0	D	0.71184	0.972	T	0.22243	-1.0222	9	0.59425	D	0.04	.	6.2802	0.21003	0.0:0.6942:0.189:0.1168	.	539	Q9Y2P7	ZN256_HUMAN	I	539	ENSP00000282308:R539I	ENSP00000282308:R539I	R	-	2	0	ZNF256	63144372	0.000000	0.05858	0.001000	0.08648	0.737000	0.42083	-0.128000	0.10531	0.056000	0.16144	0.467000	0.42956	AGA		0.463	ZNF256-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466702.1			8	76	1	0	0.0381472	1	0.0397591	8	76				
PER3	8863	broad.mit.edu	37	1	7887541	7887541	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr1:7887541A>T	ENST00000361923.2	+	17	2703	c.2528A>T	c.(2527-2529)tAc>tTc	p.Y843F	PER3_ENST00000377532.3_Missense_Mutation_p.Y851F|RP3-467L1.4_ENST00000451646.1_RNA	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	843	Pro-rich.				circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		CCTTTTCCTTACTTGGATACT	0.577																																						ENST00000377532.3																			0				breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39						c.(2551-2553)tAc>tTc		period circadian clock 3							168.0	165.0	166.0					1																	7887541		2203	4300	6503	SO:0001583	missense	8863				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	g.chr1:7887541A>T	BC026102	CCDS89.1, CCDS72695.1	1p36.23	2012-12-13	2012-12-13		ENSG00000049246	ENSG00000049246			8847	protein-coding gene	gene with protein product		603427	"""period (Drosophila) homolog 3"", ""period homolog 3 (Drosophila)"""			9427249	Standard	XM_005263520		Approved		uc001aoo.3	P56645	OTTHUMG00000001216	ENST00000361923.2:c.2528A>T	1.37:g.7887541A>T	ENSP00000355031:p.Tyr843Phe					PER3_ENST00000361923.2_Missense_Mutation_p.Y843F	p.Y851F			P56645	PER3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)	17	2776	+	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	843			Pro-rich.		Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Missense_Mutation	SNP	ENST00000361923.2	37	c.2552A>T	CCDS89.1	.	.	.	.	.	.	.	.	.	.	A	9.834	1.189329	0.21954	.	.	ENSG00000049246	ENST00000377532;ENST00000361923;ENST00000539773	T;T	0.10192	2.9;2.9	4.2	-1.02	0.10135	.	1.682360	0.02989	N	0.146660	T	0.12518	0.0304	L	0.50333	1.59	0.09310	N	1	P;P;P;P	0.40376	0.534;0.593;0.715;0.534	B;B;B;B	0.43575	0.202;0.243;0.424;0.202	T	0.30119	-0.9989	10	0.11794	T	0.64	.	5.8931	0.18925	0.5521:0.1326:0.3154:0.0	.	843;851;851;843	A2I2N5;A6H8X0;P56645-2;P56645	.;.;.;PER3_HUMAN	F	851;843;54	ENSP00000366755:Y851F;ENSP00000355031:Y843F	ENSP00000355031:Y843F	Y	+	2	0	PER3	7810128	0.000000	0.05858	0.000000	0.03702	0.185000	0.23345	0.209000	0.17435	-0.404000	0.07610	-0.421000	0.06004	TAC		0.577	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000003607.1	NM_016831		4	209	0	0	0	1	0	4	209				
SGIP1	84251	broad.mit.edu	37	1	67101650	67101650	+	Silent	SNP	C	C	T	rs534433911		TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr1:67101650C>T	ENST00000371037.4	+	4	200	c.123C>T	c.(121-123)ccC>ccT	p.P41P	SGIP1_ENST00000468286.1_Intron|SGIP1_ENST00000237247.6_Intron|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000371035.3_Intron	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	41					endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						ACGAACCACCCTACAATAGCA	0.373																																						ENST00000371037.4																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						c.(121-123)ccC>ccT		SH3-domain GRB2-like (endophilin) interacting protein 1							99.0	100.0	99.0					1																	67101650		2203	4300	6503	SO:0001819	synonymous_variant	84251				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding	g.chr1:67101650C>T	AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.123C>T	1.37:g.67101650C>T						SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000237247.6_Intron|SGIP1_ENST00000468286.1_Intron	p.P41P	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN			4	200	+			41					A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Silent	SNP	ENST00000371037.4	37	c.123C>T	CCDS30744.1																																																																																				0.373	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	NM_032291		8	75	0	0	0	1	0	8	75				
NRDE2	55051	broad.mit.edu	37	14	90756689	90756689	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr14:90756689G>A	ENST00000354366.3	-	10	2337	c.2105C>T	c.(2104-2106)aCc>aTc	p.T702I	NRDE2_ENST00000357904.3_Missense_Mutation_p.T471I	NM_017970.3	NP_060440.2	Q9H7Z3	NRDE2_HUMAN	NRDE-2, necessary for RNA interference, domain containing	702																	CTGACCCCTGGTCCAGCGAGG	0.502																																						ENST00000354366.3																			0											c.(2104-2106)aCc>aTc		NRDE-2, necessary for RNA interference, domain containing							72.0	67.0	69.0					14																	90756689		2203	4300	6503	SO:0001583	missense	55051							g.chr14:90756689G>A	AK000870	CCDS9890.1	14q32.11	2012-12-14	2012-09-25	2012-09-25	ENSG00000119720	ENSG00000119720			20186	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 102"""	C14orf102			Standard	NM_017970		Approved	FLJ14051	uc001xyi.2	Q9H7Z3	OTTHUMG00000171020	ENST00000354366.3:c.2105C>T	14.37:g.90756689G>A	ENSP00000346335:p.Thr702Ile					NRDE2_ENST00000357904.3_Missense_Mutation_p.T471I	p.T702I	NM_017970.3	NP_060440.2					10	2337	-								B4DH71|Q4G0A7|Q9NWH6	Missense_Mutation	SNP	ENST00000354366.3	37	c.2105C>T	CCDS9890.1	.	.	.	.	.	.	.	.	.	.	G	10.02	1.235907	0.22626	.	.	ENSG00000119720	ENST00000354366;ENST00000357904	T;T	0.32988	1.43;1.43	5.91	1.8	0.24995	.	0.653677	0.16763	N	0.200547	T	0.22205	0.0535	L	0.51422	1.61	0.09310	N	1	B	0.21147	0.052	B	0.17979	0.02	T	0.14035	-1.0487	10	0.29301	T	0.29	-11.8845	3.8662	0.09018	0.0783:0.3402:0.3293:0.2522	.	702	Q9H7Z3	CN102_HUMAN	I	702;471	ENSP00000346335:T702I;ENSP00000350579:T471I	ENSP00000346335:T702I	T	-	2	0	C14orf102	89826442	0.010000	0.17322	0.917000	0.36280	0.852000	0.48524	0.341000	0.19909	0.813000	0.34350	0.655000	0.94253	ACC		0.502	NRDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411264.1	NM_017970		6	35	0	0	0	1	0	6	35				
RANBP2	5903	broad.mit.edu	37	2	109367746	109367746	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr2:109367746C>A	ENST00000283195.6	+	10	1426	c.1300C>A	c.(1300-1302)Ctt>Att	p.L434I		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	434					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TAATGGTAGTCTTCAGCACCT	0.383																																						ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(1300-1302)Ctt>Att		RAN binding protein 2							68.0	83.0	78.0					2																	109367746		1462	2663	4125	SO:0001583	missense	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109367746C>A	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.1300C>A	2.37:g.109367746C>A	ENSP00000283195:p.Leu434Ile						p.L434I	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			10	1426	+			434					Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.1300C>A	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	C	17.05	3.290726	0.59976	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	D	0.90732	-2.72	5.08	5.08	0.68730	.	.	.	.	.	D	0.94951	0.8367	M	0.66939	2.045	0.29239	N	0.872745	D	0.76494	0.999	D	0.78314	0.991	D	0.91255	0.5032	9	0.87932	D	0	-20.5611	18.8314	0.92141	0.0:1.0:0.0:0.0	.	434	P49792	RBP2_HUMAN	I	434	ENSP00000283195:L434I	ENSP00000283195:L434I	L	+	1	0	RANBP2	108734178	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.189000	0.50965	2.521000	0.84997	0.650000	0.86243	CTT		0.383	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		4	99	1	0	1.23904e-05	1	1.37878e-05	4	99				
CCDC151	115948	broad.mit.edu	37	19	11537536	11537536	+	Silent	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr19:11537536G>A	ENST00000356392.4	-	5	768	c.681C>T	c.(679-681)acC>acT	p.T227T	CCDC151_ENST00000586836.1_Silent_p.T36T|CCDC151_ENST00000545100.1_Silent_p.T173T|CCDC151_ENST00000591179.1_Intron	NM_145045.4	NP_659482.3	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	227										endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						GGTACACGCTGGTAATGTGCT	0.622																																						ENST00000356392.4																			0				endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						c.(679-681)acC>acT		coiled-coil domain containing 151							66.0	68.0	68.0					19																	11537536		2092	4227	6319	SO:0001819	synonymous_variant	115948							g.chr19:11537536G>A		CCDS42501.1	19p13.2	2014-02-20				ENSG00000198003			28303	protein-coding gene	gene with protein product		615956				24067530	Standard	NM_145045		Approved	MGC20983	uc002mrs.3	A5D8V7		ENST00000356392.4:c.681C>T	19.37:g.11537536G>A						CCDC151_ENST00000591179.1_Intron|CCDC151_ENST00000586836.1_Silent_p.T36T|CCDC151_ENST00000545100.1_Silent_p.T173T	p.T227T	NM_145045.4	NP_659482.3	A5D8V7	CC151_HUMAN			5	768	-			227					B4DXT0|Q96CG5	Silent	SNP	ENST00000356392.4	37	c.681C>T	CCDS42501.1																																																																																				0.622	CCDC151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458800.1	NM_145045		11	23	0	0	0	1	0	11	23				
IPCEF1	26034	broad.mit.edu	37	6	154587060	154587060	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr6:154587060C>T	ENST00000265198.4	-	3	177	c.22G>A	c.(22-24)Gat>Aat	p.D8N	IPCEF1_ENST00000422970.2_Missense_Mutation_p.D8N|IPCEF1_ENST00000367220.4_Missense_Mutation_p.D8N	NM_001130700.1|NM_015553.2	NP_001124172.1|NP_056368.1	Q8WWN9	ICEF1_HUMAN	interaction protein for cytohesin exchange factors 1	8					oxidation-reduction process (GO:0055114)|oxygen transport (GO:0015671)|positive regulation of GTP catabolic process (GO:0033126)|response to oxidative stress (GO:0006979)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	oxygen transporter activity (GO:0005344)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	12						GCACTGCCATCAATAGCCATG	0.323																																						ENST00000265198.4																			0				breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	12						c.(22-24)Gat>Aat		interaction protein for cytohesin exchange factors 1							150.0	155.0	153.0					6																	154587060		2203	4300	6503	SO:0001583	missense	26034							g.chr6:154587060C>T	AB007863	CCDS5245.1, CCDS47509.1	6q25.2	2013-01-10			ENSG00000074706	ENSG00000074706		"""Pleckstrin homology (PH) domain containing"""	21204	protein-coding gene	gene with protein product	"""phosphoinositide binding protein PIP3-E"""					11804589, 19756519	Standard	NM_001130699		Approved	PIP3-E, KIAA0403	uc021zhc.1	Q8WWN9	OTTHUMG00000015872	ENST00000265198.4:c.22G>A	6.37:g.154587060C>T	ENSP00000265198:p.Asp8Asn					IPCEF1_ENST00000422970.2_Missense_Mutation_p.D8N|IPCEF1_ENST00000367220.4_Missense_Mutation_p.D8N	p.D8N	NM_001130700.1|NM_015553.2	NP_001124172.1|NP_056368.1					3	177	-								A8K1K2|B7ZL78|B7ZL80|O43153|Q5HYL8	Missense_Mutation	SNP	ENST00000265198.4	37	c.22G>A	CCDS5245.1	.	.	.	.	.	.	.	.	.	.	C	12.07	1.826830	0.32329	.	.	ENSG00000074706	ENST00000265198;ENST00000422970;ENST00000367220;ENST00000520261	T;T;T	0.14893	2.54;2.47;2.47	4.68	3.81	0.43845	.	0.598725	0.16497	N	0.211829	T	0.04137	0.0115	L	0.29908	0.895	0.80722	D	1	B;B	0.19073	0.007;0.033	B;B	0.15052	0.002;0.012	T	0.23440	-1.0188	10	0.16896	T	0.51	-4.8296	8.4129	0.32655	0.0:0.8943:0.0:0.1057	.	8;8	Q8WWN9;Q8WWN9-2	ICEF1_HUMAN;.	N	8	ENSP00000265198:D8N;ENSP00000394751:D8N;ENSP00000356189:D8N	ENSP00000265198:D8N	D	-	1	0	IPCEF1	154628752	0.447000	0.25673	0.407000	0.26434	0.893000	0.52053	1.977000	0.40589	1.188000	0.43014	0.655000	0.94253	GAT		0.323	IPCEF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042789.2	NM_001130699		4	145	0	0	0	1	0	4	145				
MRPL10	124995	broad.mit.edu	37	17	45904504	45904504	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr17:45904504C>T	ENST00000351111.2	-	3	294	c.289G>A	c.(289-291)Gcc>Acc	p.A97T	MRPL10_ENST00000290208.7_Missense_Mutation_p.A107T|MRPL10_ENST00000414011.1_Missense_Mutation_p.A107T	NM_145255.3	NP_660298.2	Q7Z7H8	RM10_HUMAN	mitochondrial ribosomal protein L10	97					ribosome biogenesis (GO:0042254)|translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(3)|large_intestine(1)|lung(3)|ovary(1)	8						TGGCAGACGGCTATCATTCGG	0.522																																						ENST00000290208.7																			0				endometrium(3)|large_intestine(1)|lung(3)|ovary(1)	8						c.(319-321)Gcc>Acc		mitochondrial ribosomal protein L10							115.0	100.0	105.0					17																	45904504		2203	4300	6503	SO:0001583	missense	124995				ribosome biogenesis|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome	g.chr17:45904504C>T	AB051618	CCDS11516.1, CCDS11517.1	17q21.3	2012-09-13			ENSG00000159111	ENSG00000159111		"""Mitochondrial ribosomal proteins / large subunits"""	14055	protein-coding gene	gene with protein product	"""39S ribosomal protein L10, mitochondrial"""	611825				11551941	Standard	NM_148887		Approved	RPML8, MRP-L8, L10MT, MRP-L10, MRPL8, MGC17973	uc002ily.3	Q7Z7H8	OTTHUMG00000156302	ENST00000351111.2:c.289G>A	17.37:g.45904504C>T	ENSP00000324100:p.Ala97Thr					MRPL10_ENST00000351111.2_Missense_Mutation_p.A97T|MRPL10_ENST00000414011.1_Missense_Mutation_p.A107T	p.A107T			Q7Z7H8	RM10_HUMAN			3	771	-			97					A6NGJ4|Q96B80|Q96Q55	Missense_Mutation	SNP	ENST00000351111.2	37	c.319G>A	CCDS11516.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.878108	0.91664	.	.	ENSG00000159111	ENST00000351111;ENST00000290208;ENST00000414011	T;T;T	0.45668	0.89;0.89;0.89	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.47358	0.1441	L	0.33485	1.01	0.80722	D	1	P;D	0.56521	0.513;0.976	B;P	0.52823	0.369;0.71	T	0.38112	-0.9676	10	0.48119	T	0.1	-5.7186	18.4309	0.90624	0.0:1.0:0.0:0.0	.	97;107	Q7Z7H8;A6NGJ4	RM10_HUMAN;.	T	97;107;107	ENSP00000324100:A97T;ENSP00000290208:A107T;ENSP00000395870:A107T	ENSP00000290208:A107T	A	-	1	0	MRPL10	43259503	1.000000	0.71417	0.771000	0.31576	0.498000	0.33706	7.003000	0.76310	2.657000	0.90304	0.561000	0.74099	GCC		0.522	MRPL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343764.1	NM_145255		4	532	0	0	0	1	0	4	532				
NAP1L2	4674	broad.mit.edu	37	X	72433897	72433897	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chrX:72433897G>T	ENST00000373517.3	-	1	787	c.432C>A	c.(430-432)taC>taA	p.Y144*	NAP1L2_ENST00000536638.1_Nonsense_Mutation_p.Y2*	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	144					nucleosome assembly (GO:0006334)|positive regulation of histone H3-K14 acetylation (GO:0071442)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of neuron differentiation (GO:0045666)|regulation of stem cell division (GO:2000035)	nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					GTAAGGGTTGGTACATTTCAG	0.383																																						ENST00000373517.3																			0				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29						c.(430-432)taC>taA		nucleosome assembly protein 1-like 2							165.0	157.0	160.0					X																	72433897		2203	4300	6503	SO:0001587	stop_gained	4674				nucleosome assembly	chromatin assembly complex		g.chrX:72433897G>T	AF136178	CCDS14423.1	Xq13	2008-02-05			ENSG00000186462	ENSG00000186462			7638	protein-coding gene	gene with protein product		300026				8789438	Standard	NM_021963		Approved	BPX, MGC26243	uc004ebi.3	Q9ULW6	OTTHUMG00000021827	ENST00000373517.3:c.432C>A	X.37:g.72433897G>T	ENSP00000362616:p.Tyr144*					NAP1L2_ENST00000536638.1_Nonsense_Mutation_p.Y2*	p.Y144*	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN			1	787	-	Renal(35;0.156)		144					B2RE61|B4E161|Q8TAN6	Nonsense_Mutation	SNP	ENST00000373517.3	37	c.432C>A	CCDS14423.1	.	.	.	.	.	.	.	.	.	.	g	35	5.460609	0.96240	.	.	ENSG00000186462	ENST00000373517;ENST00000536638	.	.	.	3.31	0.468	0.16732	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.3825	6.2296	0.20728	0.7494:0.0:0.2506:0.0	.	.	.	.	X	144;2	.	ENSP00000362616:Y144X	Y	-	3	2	NAP1L2	72350622	1.000000	0.71417	0.997000	0.53966	0.710000	0.40934	1.341000	0.33907	0.038000	0.15604	-0.354000	0.07668	TAC		0.383	NAP1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057225.1	NM_021963		3	91	1	0	0.00024832	1	0.000272232	3	91				
RAPH1	65059	broad.mit.edu	37	2	204356027	204356027	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr2:204356027T>G	ENST00000319170.5	-	3	435	c.136A>C	c.(136-138)Aag>Cag	p.K46Q	RAPH1_ENST00000453034.1_Missense_Mutation_p.K46Q|RAPH1_ENST00000419464.1_Missense_Mutation_p.K46Q|RAPH1_ENST00000418114.1_Missense_Mutation_p.K46Q|RAPH1_ENST00000374493.3_Missense_Mutation_p.K46Q|RAPH1_ENST00000374489.2_Missense_Mutation_p.K46Q|RAPH1_ENST00000374488.2_Missense_Mutation_p.K46Q|RAPH1_ENST00000457812.1_Missense_Mutation_p.K46Q|RAPH1_ENST00000308091.4_Missense_Mutation_p.K46Q|RAPH1_ENST00000423104.1_Missense_Mutation_p.K46Q|RAPH1_ENST00000439222.1_Missense_Mutation_p.K46Q	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	46					axon extension (GO:0048675)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TCCATGGGCTTGTCAGAATCC	0.318																																						ENST00000319170.5																			0				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(136-138)Aag>Cag		Ras association (RalGDS/AF-6) and pleckstrin homology domains 1							105.0	106.0	105.0					2																	204356027		2203	4300	6503	SO:0001583	missense	65059				cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane		g.chr2:204356027T>G	AJ584699	CCDS2359.1, CCDS2360.1	2q33	2013-01-10	2003-11-25	2003-11-26	ENSG00000173166	ENSG00000173166		"""Pleckstrin homology (PH) domain containing"""	14436	protein-coding gene	gene with protein product	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 18"""	609035	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 9"""	ALS2CR9, ALS2CR18			Standard	NM_203365		Approved	KIAA1681	uc002vad.3	Q70E73	OTTHUMG00000132876	ENST00000319170.5:c.136A>C	2.37:g.204356027T>G	ENSP00000316543:p.Lys46Gln					RAPH1_ENST00000418114.1_Missense_Mutation_p.K46Q|RAPH1_ENST00000374488.2_Missense_Mutation_p.K46Q|RAPH1_ENST00000374493.3_Missense_Mutation_p.K46Q|RAPH1_ENST00000308091.4_Missense_Mutation_p.K46Q|RAPH1_ENST00000374489.2_Missense_Mutation_p.K46Q|RAPH1_ENST00000457812.1_Missense_Mutation_p.K46Q|RAPH1_ENST00000453034.1_Missense_Mutation_p.K46Q|RAPH1_ENST00000423104.1_Missense_Mutation_p.K46Q|RAPH1_ENST00000439222.1_Missense_Mutation_p.K46Q|RAPH1_ENST00000419464.1_Missense_Mutation_p.K46Q	p.K46Q	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN			3	435	-			46					Q96Q37|Q9C0I2	Missense_Mutation	SNP	ENST00000319170.5	37	c.136A>C	CCDS2359.1	.	.	.	.	.	.	.	.	.	.	T	12.93	2.084160	0.36758	.	.	ENSG00000173166	ENST00000457812;ENST00000319170;ENST00000374493;ENST00000374489;ENST00000374488;ENST00000308091;ENST00000439222;ENST00000419464;ENST00000423104;ENST00000453034;ENST00000432342;ENST00000418114;ENST00000413201;ENST00000428637;ENST00000420371	T;T;T;T;T;T;T;T;T;T;T	0.47528	0.87;0.87;0.84;0.85;0.85;0.84;0.85;0.87;0.85;0.85;0.87	5.69	5.69	0.88448	.	0.115312	0.39210	N	0.001430	T	0.47097	0.1427	L	0.44542	1.39	0.39798	D	0.972534	P;P;D	0.56521	0.9;0.608;0.976	B;B;P	0.47015	0.39;0.205;0.534	T	0.44298	-0.9337	10	0.31617	T	0.26	-13.4892	15.9414	0.79756	0.0:0.0:0.0:1.0	.	46;46;46	Q70E73-6;C9K0J5;Q70E73	.;.;RAPH1_HUMAN	Q	46	ENSP00000392854:K46Q;ENSP00000316543:K46Q;ENSP00000363617:K46Q;ENSP00000363613:K46Q;ENSP00000363612:K46Q;ENSP00000311293:K46Q;ENSP00000411138:K46Q;ENSP00000390578:K46Q;ENSP00000397751:K46Q;ENSP00000406662:K46Q;ENSP00000396711:K46Q	ENSP00000311293:K46Q	K	-	1	0	RAPH1	204064272	1.000000	0.71417	1.000000	0.80357	0.302000	0.27658	5.585000	0.67497	2.171000	0.68590	0.528000	0.53228	AAG		0.318	RAPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256363.2	NM_025252		7	47	0	0	0	1	0	7	47				
SMARCA4	6597	broad.mit.edu	37	19	11098575	11098575	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr19:11098575G>C	ENST00000429416.3	+	7	1374	c.1093G>C	c.(1093-1095)Gag>Cag	p.E365Q	SMARCA4_ENST00000541122.2_Missense_Mutation_p.E365Q|SMARCA4_ENST00000413806.3_Missense_Mutation_p.E365Q|SMARCA4_ENST00000589677.1_Missense_Mutation_p.E365Q|SMARCA4_ENST00000344626.4_Missense_Mutation_p.E365Q|SMARCA4_ENST00000444061.3_Missense_Mutation_p.E365Q|SMARCA4_ENST00000590574.1_Missense_Mutation_p.E365Q|SMARCA4_ENST00000358026.2_Missense_Mutation_p.E365Q|SMARCA4_ENST00000450717.3_Missense_Mutation_p.E365Q	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	365					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CGACCCTGTGGAGATCCTGCA	0.692			"""F, N, Mis"""		NSCLC																																	ENST00000358026.2				Rec	yes		19	19p13.2	6597	"""F, N, Mis"""	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""			E			NSCLC		1	Unknown(1)	p.?(1)	lung(1)	adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163						c.(1093-1095)Gag>Cag		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4							21.0	27.0	25.0					19																	11098575		2164	4179	6343	SO:0001583	missense	6597				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11098575G>C	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.1093G>C	19.37:g.11098575G>C	ENSP00000395654:p.Glu365Gln					SMARCA4_ENST00000450717.3_Missense_Mutation_p.E365Q|SMARCA4_ENST00000589677.1_Missense_Mutation_p.E365Q|SMARCA4_ENST00000429416.3_Missense_Mutation_p.E365Q|SMARCA4_ENST00000344626.4_Missense_Mutation_p.E365Q|SMARCA4_ENST00000444061.3_Missense_Mutation_p.E365Q|SMARCA4_ENST00000413806.3_Missense_Mutation_p.E365Q|SMARCA4_ENST00000590574.1_Missense_Mutation_p.E365Q|SMARCA4_ENST00000541122.2_Missense_Mutation_p.E365Q	p.E365Q	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN			6	1377	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	365					B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.1093G>C	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	G	14.38	2.517790	0.44763	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.86769	-2.17;-2.17;-2.17;-2.17;-2.16;-2.17;-2.17	4.49	4.49	0.54785	.	0.000000	0.85682	D	0.000000	T	0.81758	0.4890	N	0.26092	0.79	0.51233	D	0.999913	P;P;P;P;P;P;P	0.42827	0.791;0.791;0.791;0.683;0.791;0.791;0.791	B;B;B;B;B;B;B	0.42916	0.373;0.373;0.373;0.402;0.299;0.373;0.373	T	0.81353	-0.0971	10	0.31617	T	0.26	-42.9749	16.1384	0.81506	0.0:0.0:1.0:0.0	.	365;365;365;365;365;365;365	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;A7E2E1;P51532	.;.;.;.;.;.;SMCA4_HUMAN	Q	365	ENSP00000395654:E365Q;ENSP00000350720:E365Q;ENSP00000343896:E365Q;ENSP00000445036:E365Q;ENSP00000392837:E365Q;ENSP00000397783:E365Q;ENSP00000414727:E365Q	ENSP00000343896:E365Q	E	+	1	0	SMARCA4	10959575	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	9.417000	0.97391	2.335000	0.79485	0.655000	0.94253	GAG		0.692	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		8	12	0	0	0	1	0	8	12				
TYW1B	441250	broad.mit.edu	37	7	72209576	72209576	+	RNA	SNP	C	C	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr7:72209576C>G	ENST00000435769.2	-	0	1089				TYW1B_ENST00000343721.5_RNA|TYW1B_ENST00000438125.1_RNA|TYW1B_ENST00000438904.2_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing (GO:0008033)		4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)										CTCGGAGCATCGACTATGACA	0.413																																						ENST00000438125.1																			0													tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)							233.0	179.0	195.0					7																	72209576		692	1591	2283			441250				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:72209576C>G	BC068520	CCDS69309.1	7q11.23	2011-08-11	2009-07-28		ENSG00000254184	ENSG00000277149			33908	protein-coding gene	gene with protein product	"""radical S-adenosyl methionine and flavodoxin domains 1"", ""non-protein coding RNA 69"", ""long intergenic non-protein coding RNA 69"""		"""tRNA-yW synthesizing protein 1 homolog B (non-protein coding)"""				Standard	NM_001145440		Approved	RSAFD2, MGC87315, NCRNA00069, LINC00069	uc011kej.2	Q6NUM6	OTTHUMG00000157067		7.37:g.72209576C>G										Q6NUM6	TYW1B_HUMAN			0	579	-								A6NG09|B4DFY2|Q3KQX2	RNA	SNP	ENST00000435769.2	37																																																																																						0.413	TYW1B-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347346.2	NM_001145440		4	77	0	0	0	1	0	4	77				
NXPE4	54827	broad.mit.edu	37	11	114451052	114451052	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr11:114451052C>T	ENST00000375478.3	-	5	1081	c.901G>A	c.(901-903)Gtt>Att	p.V301I	NXPE4_ENST00000424261.2_Missense_Mutation_p.V17I	NM_001077639.1	NP_001071107.1	Q6UWF7	NXPE4_HUMAN	neurexophilin and PC-esterase domain family, member 4	301						extracellular vesicular exosome (GO:0070062)											TTCATTGCAACTGTTTCTTCT	0.408																																						ENST00000375478.3																			0											c.(901-903)Gtt>Att		neurexophilin and PC-esterase domain family, member 4							121.0	110.0	113.0					11																	114451052		1864	4107	5971	SO:0001583	missense	54827							g.chr11:114451052C>T	AK000134	CCDS41718.1, CCDS44737.1	11q23.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000137634	ENSG00000137634			23117	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 33"", ""family with sequence similarity 55, member D"""	C11orf33, FAM55D		20056006	Standard	NM_017678		Approved	FLJ20127	uc001ppc.3	Q6UWF7	OTTHUMG00000168291	ENST00000375478.3:c.901G>A	11.37:g.114451052C>T	ENSP00000364627:p.Val301Ile					NXPE4_ENST00000424261.2_Missense_Mutation_p.V17I	p.V301I	NM_001077639.1	NP_001071107.1					5	1081	-								Q6QDB4|Q9NXP5	Missense_Mutation	SNP	ENST00000375478.3	37	c.901G>A	CCDS41718.1	.	.	.	.	.	.	.	.	.	.	C	8.038	0.763327	0.15914	.	.	ENSG00000137634	ENST00000424261;ENST00000375478	T;T	0.13538	2.58;2.74	4.69	3.78	0.43462	.	1.115920	0.06903	N	0.806357	T	0.12433	0.0302	L	0.33485	1.01	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.08889	-1.0700	10	0.27082	T	0.32	.	10.6727	0.45768	0.0:0.9035:0.0:0.0965	.	301	Q6UWF7	FA55D_HUMAN	I	17;301	ENSP00000401503:V17I;ENSP00000364627:V301I	ENSP00000364627:V301I	V	-	1	0	FAM55D	113956262	0.000000	0.05858	0.011000	0.14972	0.312000	0.27988	0.842000	0.27627	2.588000	0.87417	0.655000	0.94253	GTT		0.408	NXPE4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399179.1	NM_017678		27	36	0	0	0	1	0	27	36				
COLEC11	78989	broad.mit.edu	37	2	3691555	3691555	+	Silent	SNP	C	C	T	rs199962584		TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr2:3691555C>T	ENST00000349077.4	+	7	766	c.663C>T	c.(661-663)ccC>ccT	p.P221P	COLEC11_ENST00000236693.7_Silent_p.P218P|COLEC11_ENST00000404205.1_Silent_p.P147P|COLEC11_ENST00000487365.1_3'UTR|COLEC11_ENST00000402794.1_Silent_p.P171P|COLEC11_ENST00000418971.2_Silent_p.P235P|COLEC11_ENST00000403096.3_Silent_p.P195P|COLEC11_ENST00000402922.1_Silent_p.P171P|COLEC11_ENST00000382062.2_Silent_p.P197P	NM_024027.4	NP_076932.1	Q9BWP8	COL11_HUMAN	collectin sub-family member 11	221	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				developmental process (GO:0032502)|multicellular organismal development (GO:0007275)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)	mannose binding (GO:0005537)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		ACCACTCCCCCATGCGGACCT	0.642																																						ENST00000403096.3																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22						c.(583-585)ccC>ccT		collectin sub-family member 11							65.0	76.0	72.0					2																	3691555		2203	4300	6503	SO:0001819	synonymous_variant	78989					collagen	mannose binding	g.chr2:3691555C>T	BC000078	CCDS1649.1, CCDS1650.1, CCDS58689.1, CCDS58690.1, CCDS58691.1, CCDS58692.1, CCDS58693.1, CCDS58694.1	2p25.3	2014-09-17			ENSG00000118004	ENSG00000118004		"""Collectins"""	17213	protein-coding gene	gene with protein product	"""Collectin K1"""	612502					Standard	NM_024027		Approved	MGC3279, CL-K1	uc031rnn.1	Q9BWP8	OTTHUMG00000090304	ENST00000349077.4:c.663C>T	2.37:g.3691555C>T						COLEC11_ENST00000236693.7_Silent_p.P218P|COLEC11_ENST00000418971.2_Silent_p.P235P|COLEC11_ENST00000404205.1_Silent_p.P147P|COLEC11_ENST00000402794.1_Silent_p.P171P|COLEC11_ENST00000402922.1_Silent_p.P171P|COLEC11_ENST00000382062.2_Silent_p.P197P|COLEC11_ENST00000349077.4_Silent_p.P221P|COLEC11_ENST00000487365.1_3'UTR	p.P195P	NM_001255986.1	NP_001242915.1	Q9BWP8	COL11_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.127)	6	1076	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)		221			C-type lectin.		A1IGE4|A1IGE5|A1IGE6|A7VJJ2|A7VJJ3|A7VJJ4|A7VJJ5|B2R9M5|B4E1G0|J3KQY9|Q5CZ85|Q7Z6N1	Silent	SNP	ENST00000349077.4	37	c.585C>T	CCDS1649.1																																																																																				0.642	COLEC11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206666.1	NM_024027		8	77	0	0	0	1	0	8	77				
STX4	6810	broad.mit.edu	37	16	31045793	31045793	+	Silent	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr16:31045793G>A	ENST00000313843.3	+	4	558	c.243G>A	c.(241-243)caG>caA	p.Q81Q	STX4_ENST00000493902.1_3'UTR|STX4_ENST00000394998.1_Silent_p.Q79Q	NM_004604.3	NP_004595.2	Q12846	STX4_HUMAN	syntaxin 4	81					blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|neurotransmitter transport (GO:0006836)|platelet activation (GO:0030168)|post-Golgi vesicle-mediated transport (GO:0006892)|SNARE complex assembly (GO:0035493)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|membrane (GO:0016020)|myelin sheath adaxonal region (GO:0035749)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|specific granule (GO:0042581)|trans-Golgi network (GO:0005802)|vacuole (GO:0005773)				NS(2)|breast(1)|large_intestine(3)|lung(3)	9						GCATGAAGCAGGAGCTGCAGA	0.582																																						ENST00000394998.1																			0				NS(2)|breast(1)|large_intestine(3)|lung(3)	9						c.(235-237)caG>caA		syntaxin 4							47.0	45.0	46.0					16																	31045793		2197	4300	6497	SO:0001819	synonymous_variant	6810				intracellular protein transport|platelet activation|post-Golgi vesicle-mediated transport	basolateral plasma membrane|cell surface|cytosol|integral to membrane|plasma membrane enriched fraction|specific granule|vacuole	SNAP receptor activity	g.chr16:31045793G>A	AF026007	CCDS10700.1, CCDS61916.1	16p11.2	2008-02-05	2006-04-25	2006-04-25	ENSG00000103496	ENSG00000103496			11439	protein-coding gene	gene with protein product		186591	"""syntaxin 4A (placental)"""	STX4A		8206394, 16339081	Standard	NM_001272095		Approved	p35-2	uc002eak.4	Q12846	OTTHUMG00000132404	ENST00000313843.3:c.243G>A	16.37:g.31045793G>A						STX4_ENST00000493902.1_3'UTR|STX4_ENST00000313843.3_Silent_p.Q81Q	p.Q79Q	NM_001272096.1	NP_001259025.1	Q12846	STX4_HUMAN			5	580	+			81					A8MXY0|Q15525|Q6FHE8	Silent	SNP	ENST00000313843.3	37	c.237G>A	CCDS10700.1																																																																																				0.582	STX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255538.3	NM_004604		14	27	0	0	0	1	0	14	27				
LAD1	3898	broad.mit.edu	37	1	201354880	201354880	+	Silent	SNP	T	T	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr1:201354880T>G	ENST00000391967.2	-	4	1381	c.1080A>C	c.(1078-1080)cgA>cgC	p.R360R	LAD1_ENST00000367313.3_Silent_p.R374R|LAD1_ENST00000488842.1_5'Flank	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	360						basement membrane (GO:0005604)	structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						TGCTGTAGGTTCGCTGTGTGG	0.597											OREG0014078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000391967.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						c.(1078-1080)cgA>cgC		ladinin 1							250.0	209.0	223.0					1																	201354880		2203	4300	6503	SO:0001819	synonymous_variant	3898					basement membrane	structural molecule activity	g.chr1:201354880T>G	U42408	CCDS1410.1	1q25.1-q32.3	2008-02-05			ENSG00000159166	ENSG00000159166			6472	protein-coding gene	gene with protein product		602314				8618013, 9119369	Standard	NM_005558		Approved		uc001gwm.3	O00515	OTTHUMG00000035737	ENST00000391967.2:c.1080A>C	1.37:g.201354880T>G			OREG0014078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2121	LAD1_ENST00000367313.3_Silent_p.R374R	p.R360R	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN			4	1381	-			360					O95614|Q96GD8	Silent	SNP	ENST00000391967.2	37	c.1080A>C	CCDS1410.1																																																																																				0.597	LAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086946.1	NM_005558		8	48	0	0	0	1	0	8	48				
KIRREL3	84623	broad.mit.edu	37	11	126299167	126299167	+	Silent	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr11:126299167C>T	ENST00000525144.2	-	15	1962	c.1713G>A	c.(1711-1713)gtG>gtA	p.V571V	KIRREL3_ENST00000416561.2_Silent_p.V38V|KIRREL3_ENST00000529097.2_Silent_p.V559V	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	571					hemopoiesis (GO:0030097)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		TTTTGGCTGACACAACACCTT	0.468																																						ENST00000525144.2																			0				central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29						c.(1711-1713)gtG>gtA		kin of IRRE like 3 (Drosophila)							93.0	95.0	95.0					11																	126299167		1935	4135	6070	SO:0001819	synonymous_variant	84623				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding	g.chr11:126299167C>T	AB058770	CCDS53723.1, CCDS55796.1, CCDS73413.1	11q24	2013-01-29			ENSG00000149571	ENSG00000149571		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	23204	protein-coding gene	gene with protein product		607761				12424224, 11347906	Standard	NM_032531		Approved	NEPH2, KIAA1867, KIRRE	uc001qea.3	Q8IZU9	OTTHUMG00000165831	ENST00000525144.2:c.1713G>A	11.37:g.126299167C>T						KIRREL3_ENST00000529097.2_Silent_p.V559V|KIRREL3_ENST00000416561.2_Silent_p.V38V	p.V571V	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)	15	1962	-	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)	571					Q3MIJ7|Q6UWJ9|Q6UWL5|Q96JG0	Silent	SNP	ENST00000525144.2	37	c.1713G>A	CCDS53723.1																																																																																				0.468	KIRREL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386479.2	NM_032531		17	63	0	0	0	1	0	17	63				
HLA-F	3134	broad.mit.edu	37	6	29694668	29694668	+	IGR	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr6:29694668G>A	ENST00000376861.1	+	0	1544				HLA-F_ENST00000475996.1_Intron|HLA-F_ENST00000440587.2_Missense_Mutation_p.V220M|HLA-F_ENST00000259951.7_Missense_Mutation_p.V349M			P30511	HLAF_HUMAN	major histocompatibility complex, class I, F						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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						AGCCTACTCAGTGGTCAGCGG	0.463																																						ENST00000440587.2																			0				cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(658-660)Gtg>Atg		major histocompatibility complex, class I, F							104.0	119.0	114.0					6																	29694668		1491	2694	4185	SO:0001628	intergenic_variant	3134				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29694668G>A	AY253269	CCDS43437.1, CCDS43438.1, CCDS43439.1	6p21.3	2013-01-11			ENSG00000204642	ENSG00000204642		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4963	protein-coding gene	gene with protein product		143110				1688605	Standard	NM_018950		Approved		uc003nno.4	P30511	OTTHUMG00000031156		6.37:g.29694668G>A						HLA-F_ENST00000475996.1_Intron|HLA-F_ENST00000259951.7_Missense_Mutation_p.V349M	p.V220M			P30511	HLAF_HUMAN			6	1017	+			0			Alpha-3.|Ig-like C1-type.		Q5JQI8|Q5JQJ1|Q5SPT5|Q860R0|Q8MGQ1|Q8WLP5|Q95HC0|Q9TP68	Missense_Mutation	SNP	ENST00000376861.1	37	c.658G>A	CCDS43438.1	.	.	.	.	.	.	.	.	.	.	.	10.08	1.252302	0.22880	.	.	ENSG00000204642	ENST00000449921;ENST00000259951;ENST00000399258;ENST00000440587	T;T	0.00745	5.75;5.8	0.62	0.62	0.17637	.	.	.	.	.	T	0.00552	0.0018	N	0.14661	0.345	0.27138	N	0.961736	B;D	0.58970	0.318;0.984	B;D	0.65323	0.012;0.934	T	0.57871	-0.7736	9	0.87932	D	0	.	7.0003	0.24805	1.0E-4:0.0:0.9999:0.0	.	349;349	A8MVU7;P30511-3	.;.	M	326;349;263;220	ENSP00000259951:V349M;ENSP00000404130:V220M	ENSP00000259951:V349M	V	+	1	0	HLA-F	29802647	1.000000	0.71417	0.109000	0.21407	0.027000	0.11550	6.536000	0.73842	0.580000	0.29522	0.436000	0.28706	GTG		0.463	HLA-F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195083.1	NM_018950		42	105	0	0	0	1	0	42	105				
HSP90B1	7184	broad.mit.edu	37	12	104332226	104332226	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr12:104332226A>G	ENST00000299767.5	+	7	1146	c.964A>G	c.(964-966)Aag>Gag	p.K322E		NM_003299.2	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	322					actin rod assembly (GO:0031247)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cellular response to ATP (GO:0071318)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|protein folding (GO:0006457)|protein transport (GO:0015031)|regulation of phosphoprotein phosphatase activity (GO:0043666)|response to hypoxia (GO:0001666)|sequestering of calcium ion (GO:0051208)|toll-like receptor signaling pathway (GO:0002224)	cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|low-density lipoprotein particle receptor binding (GO:0050750)|protein phosphatase binding (GO:0019903)|RNA binding (GO:0003723)|virion binding (GO:0046790)			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	aaagaaACCAAAGACTAAAAA	0.388																																						ENST00000299767.5																			0				central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29						c.(964-966)Aag>Gag		heat shock protein 90kDa beta (Grp94), member 1	Rifabutin(DB00615)						45.0	49.0	47.0					12																	104332226		2203	4300	6503	SO:0001583	missense	7184				actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding	g.chr12:104332226A>G	AY040226	CCDS9094.1	12q24.2-q24.3	2011-09-02	2006-02-24	2006-02-24		ENSG00000166598		"""Heat shock proteins / HSPC"""	12028	protein-coding gene	gene with protein product		191175	"""tumor rejection antigen (gp96) 1"""	TRA1		16269234	Standard	NM_003299		Approved	GP96, GRP94	uc001tkb.2	P14625	OTTHUMG00000170118	ENST00000299767.5:c.964A>G	12.37:g.104332226A>G	ENSP00000299767:p.Lys322Glu						p.K322E	NM_003299.1	NP_003290.1	P14625	ENPL_HUMAN			7	1146	+			322					Q96A97	Missense_Mutation	SNP	ENST00000299767.5	37	c.964A>G	CCDS9094.1	.	.	.	.	.	.	.	.	.	.	A	15.20	2.763352	0.49574	.	.	ENSG00000166598	ENST00000299767;ENST00000421266	T	0.17370	2.28	5.78	5.78	0.91487	ATPase-like, ATP-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.34745	0.0908	L	0.52364	1.645	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	T	0.03695	-1.1012	10	0.59425	D	0.04	.	12.4981	0.55940	1.0:0.0:0.0:0.0	.	322	P14625	ENPL_HUMAN	E	322;72	ENSP00000299767:K322E	ENSP00000299767:K322E	K	+	1	0	HSP90B1	102856356	1.000000	0.71417	0.940000	0.37924	0.022000	0.10575	6.690000	0.74567	2.197000	0.70478	0.533000	0.62120	AAG		0.388	HSP90B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407349.1	NM_003299		13	23	0	0	0	1	0	13	23				
LYST	1130	broad.mit.edu	37	1	235922372	235922372	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr1:235922372G>A	ENST00000389794.3	-	23	6955	c.6781C>T	c.(6781-6783)Cgt>Tgt	p.R2261C	LYST_ENST00000389793.2_Missense_Mutation_p.R2261C			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2261					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CTTGGCCAACGGCCAACAGCT	0.473																																						ENST00000389794.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162						c.(6781-6783)Cgt>Tgt		lysosomal trafficking regulator							73.0	69.0	71.0					1																	235922372		2203	4300	6503	SO:0001583	missense	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235922372G>A	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.6781C>T	1.37:g.235922372G>A	ENSP00000374444:p.Arg2261Cys					LYST_ENST00000389793.2_Missense_Mutation_p.R2261C	p.R2261C			Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		23	6955	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	2261					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.6781C>T	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	G	18.43	3.621863	0.66787	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.67865	-0.29;-0.29	4.93	2.99	0.34606	.	0.597834	0.18240	N	0.147275	T	0.73674	0.3617	M	0.63428	1.95	0.80722	D	1	D	0.89917	1.0	D	0.66602	0.945	T	0.71632	-0.4534	10	0.87932	D	0	.	5.2737	0.15638	0.0775:0.1389:0.6304:0.1532	.	2261	Q99698	LYST_HUMAN	C	2261	ENSP00000374444:R2261C;ENSP00000374443:R2261C	ENSP00000374443:R2261C	R	-	1	0	LYST	233988995	0.988000	0.35896	0.056000	0.19401	0.908000	0.53690	3.932000	0.56537	0.565000	0.29255	0.558000	0.71614	CGT		0.473	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			23	40	0	0	0	1	0	23	40				
TSC2	7249	broad.mit.edu	37	16	2132493	2132493	+	Missense_Mutation	SNP	G	G	A	rs201135184		TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr16:2132493G>A	ENST00000219476.3	+	32	4501	c.3871G>A	c.(3871-3873)Gtt>Att	p.V1291I	TSC2_ENST00000568454.1_Intron|TSC2_ENST00000401874.2_Intron|TSC2_ENST00000382538.6_Intron|TSC2_ENST00000353929.4_Missense_Mutation_p.V1248I|TSC2_ENST00000439673.2_Intron|TSC2_ENST00000350773.4_Intron	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1291					acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				GCACAGGAGCGTTTCCTGGGC	0.647			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				G|||	1	0.000199681	0.0	0.0	5008	,	,		19886	0.0		0.001	False		,,,				2504	0.0					ENST00000219476.3			yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	"""D, Mis, N, F, S"""	tuberous sclerosis 2 gene			"""E, O"""		"""hamartoma, renal cell"""			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56						c.(3871-3873)Gtt>Att		tuberous sclerosis 2							99.0	88.0	92.0					16																	2132493		2198	4298	6496	SO:0001583	missense	7249	Tuberous Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity	g.chr16:2132493G>A	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.3871G>A	16.37:g.2132493G>A	ENSP00000219476:p.Val1291Ile					TSC2_ENST00000353929.4_Missense_Mutation_p.V1248I|TSC2_ENST00000382538.6_Intron|TSC2_ENST00000439673.2_Intron|TSC2_ENST00000350773.4_Intron|TSC2_ENST00000401874.2_Intron|TSC2_ENST00000568454.1_Intron	p.V1291I	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN			32	4501	+		Hepatocellular(780;0.0202)	1291					A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	ENST00000219476.3	37	c.3871G>A	CCDS10458.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	1.861	-0.462674	0.04508	.	.	ENSG00000103197	ENST00000219476;ENST00000353929	D;D	0.87571	-2.27;-2.18	4.25	-1.49	0.08718	.	0.582077	0.16292	N	0.220854	T	0.63379	0.2506	N	0.01576	-0.805	0.23628	N	0.997252	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.0	T	0.54761	-0.8245	10	0.18710	T	0.47	-1.518	10.0827	0.42399	0.524:0.0:0.476:0.0	.	1247;1291	P49815-3;P49815	.;TSC2_HUMAN	I	1291;1248	ENSP00000219476:V1291I;ENSP00000248099:V1248I	ENSP00000219476:V1291I	V	+	1	0	TSC2	2072494	1.000000	0.71417	0.997000	0.53966	0.878000	0.50629	0.977000	0.29475	-0.241000	0.09681	-0.459000	0.05422	GTT		0.647	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548		20	5	0	0	0	1	0	20	5				
ENPP2	5168	broad.mit.edu	37	8	120569905	120569905	+	Silent	SNP	T	T	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr8:120569905T>C	ENST00000075322.6	-	25	2506	c.2448A>G	c.(2446-2448)gtA>gtG	p.V816V	ENPP2_ENST00000522167.1_Silent_p.V451V|ENPP2_ENST00000522826.1_Silent_p.V841V|ENPP2_ENST00000427067.2_Silent_p.V837V|ENPP2_ENST00000259486.6_Silent_p.V868V	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	816					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TGAGTTCTTCTACCCATTTTG	0.458																																					Melanoma(20;305 879 2501 4818 31020)	ENST00000427067.2																			0				breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69						c.(2509-2511)gtA>gtG		ectonucleotide pyrophosphatase/phosphodiesterase 2							187.0	168.0	175.0					8																	120569905		2203	4300	6503	SO:0001819	synonymous_variant	5168				cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	g.chr8:120569905T>C	D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"""autotaxin"""	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.2448A>G	8.37:g.120569905T>C						ENPP2_ENST00000259486.6_Silent_p.V868V|ENPP2_ENST00000522826.1_Silent_p.V841V|ENPP2_ENST00000075322.6_Silent_p.V816V|ENPP2_ENST00000522167.1_Silent_p.V451V	p.V837V			Q13822	ENPP2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		26	2691	-	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		816			Required for secretion (By similarity).		A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Silent	SNP	ENST00000075322.6	37	c.2511A>G	CCDS34936.1																																																																																				0.458	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1			33	142	0	0	0	1	0	33	142				
MTA3	57504	broad.mit.edu	37	2	42909669	42909669	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr2:42909669C>G	ENST00000405094.1	+	9	831	c.831C>G	c.(829-831)agC>agG	p.S277R	MTA3_ENST00000406911.1_Missense_Mutation_p.S277R|MTA3_ENST00000407270.3_Missense_Mutation_p.S277R|MTA3_ENST00000405592.1_Missense_Mutation_p.S221R|MTA3_ENST00000406652.1_Missense_Mutation_p.S221R			Q9BTC8	MTA3_HUMAN	metastasis associated 1 family, member 3	277	SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}.					intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(9)|ovary(2)|stomach(1)	15						CTGAAGCTAGCTTATTTGAAG	0.388																																						ENST00000405592.1																			0				endometrium(1)|large_intestine(2)|lung(9)|ovary(2)|stomach(1)	15						c.(661-663)agC>agG		metastasis associated 1 family, member 3							76.0	70.0	72.0					2																	42909669		1876	4110	5986	SO:0001583	missense	57504					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:42909669C>G	AB033092	CCDS46267.1, CCDS62900.1	2p22.1	2013-01-25	2004-12-15		ENSG00000057935	ENSG00000057935		"""GATA zinc finger domain containing"""	23784	protein-coding gene	gene with protein product		609050	"""metastasis associated gene family, member 3"""			12705869, 14613024	Standard	NM_001282755		Approved	KIAA1266	uc002rsq.3	Q9BTC8	OTTHUMG00000150452	ENST00000405094.1:c.831C>G	2.37:g.42909669C>G	ENSP00000385823:p.Ser277Arg					MTA3_ENST00000407270.3_Missense_Mutation_p.S277R|MTA3_ENST00000406652.1_Missense_Mutation_p.S221R|MTA3_ENST00000406911.1_Missense_Mutation_p.S277R|MTA3_ENST00000405094.1_Missense_Mutation_p.S277R	p.S221R			Q9BTC8	MTA3_HUMAN			10	1333	+			277			ELM2.		Q9NSP2|Q9ULF4	Missense_Mutation	SNP	ENST00000405094.1	37	c.663C>G		.	.	.	.	.	.	.	.	.	.	C	12.67	2.006513	0.35415	.	.	ENSG00000057935	ENST00000405592;ENST00000406652;ENST00000407270;ENST00000282366;ENST00000406911;ENST00000405094	T;T;T;T;T	0.34667	1.35;1.35;1.35;1.35;1.35	5.66	0.139	0.14798	.	0.357629	0.35970	N	0.002873	T	0.15305	0.0369	N	0.02842	-0.48	0.32351	N	0.558449	B;B;B	0.30793	0.295;0.027;0.161	B;B;B	0.30943	0.045;0.026;0.122	T	0.16600	-1.0397	10	0.72032	D	0.01	-15.6184	10.4673	0.44616	0.0:0.4879:0.0:0.5121	.	277;277;221	E7EQY4;Q9BTC8-2;D6W5A2	.;.;.	R	221;221;277;277;277;277	ENSP00000383973:S221R;ENSP00000384249:S221R;ENSP00000385045:S277R;ENSP00000385241:S277R;ENSP00000385823:S277R	ENSP00000282366:S277R	S	+	3	2	MTA3	42763173	0.998000	0.40836	0.994000	0.49952	0.994000	0.84299	1.355000	0.34068	-0.003000	0.14444	-0.218000	0.12543	AGC		0.388	MTA3-017	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000318159.1	NM_020744		29	12	0	0	0	1	0	29	12				
ZNF616	90317	broad.mit.edu	37	19	52618981	52618981	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr19:52618981C>T	ENST00000600228.1	-	4	1697	c.1436G>A	c.(1435-1437)cGa>cAa	p.R479Q	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	479					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		AGCTGCAAGTCGTGAATGTAT	0.418																																						ENST00000600228.1																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(1435-1437)cGa>cAa		zinc finger protein 616							112.0	102.0	106.0					19																	52618981		2203	4300	6503	SO:0001583	missense	90317				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52618981C>T	AK092266	CCDS33090.1	19q13.41	2013-01-08				ENSG00000204611		"""Zinc fingers, C2H2-type"", ""-"""	28062	protein-coding gene	gene with protein product							Standard	NM_178523		Approved	MGC45556	uc002pym.3	Q08AN1		ENST00000600228.1:c.1436G>A	19.37:g.52618981C>T	ENSP00000471000:p.Arg479Gln					ZNF616_ENST00000330123.5_3'UTR	p.R479Q	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN		GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)	4	1697	-			479					B3KRV1|Q0P658|Q658V7	Missense_Mutation	SNP	ENST00000600228.1	37	c.1436G>A	CCDS33090.1	.	.	.	.	.	.	.	.	.	.	C	7.547	0.661978	0.14645	.	.	ENSG00000204611	ENST00000330123	.	.	.	1.08	-2.15	0.07102	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08891	0.0220	N	0.02357	-0.585	0.09310	N	1	B	0.17667	0.023	B	0.08055	0.003	T	0.19516	-1.0303	8	0.15066	T	0.55	.	2.6705	0.05066	0.3388:0.2533:0.0:0.4078	.	479	Q08AN1	ZN616_HUMAN	Q	479	.	ENSP00000328722:R479Q	R	-	2	0	ZNF616	57310793	0.000000	0.05858	0.000000	0.03702	0.225000	0.24961	-3.457000	0.00464	-2.120000	0.00826	0.305000	0.20034	CGA		0.418	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462451.1	XM_030892		16	49	0	0	0	1	0	16	49				
PCDHB6	56130	broad.mit.edu	37	5	140530370	140530370	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr5:140530370C>T	ENST00000231136.1	+	1	532	c.532C>T	c.(532-534)Cac>Tac	p.H178Y	PCDHB6_ENST00000543635.1_Missense_Mutation_p.H42Y	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	178	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTCACTTCCACGTTCTCAC	0.542																																						ENST00000231136.1																			0				cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84						c.(532-534)Cac>Tac									145.0	152.0	150.0					5																	140530370		2203	4300	6503	SO:0001583	missense	56130				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140530370C>T	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.532C>T	5.37:g.140530370C>T	ENSP00000231136:p.His178Tyr					PCDHB6_ENST00000543635.1_Missense_Mutation_p.H42Y	p.H178Y	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	532	+			178			Cadherin 2.		B2R8R9	Missense_Mutation	SNP	ENST00000231136.1	37	c.532C>T	CCDS4248.1	.	.	.	.	.	.	.	.	.	.	C	9.190	1.025837	0.19512	.	.	ENSG00000113211	ENST00000543635;ENST00000231136	T;T	0.51325	0.71;0.71	4.7	2.78	0.32641	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.60805	0.2297	M	0.71206	2.165	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.48658	-0.9016	9	0.54805	T	0.06	.	3.0732	0.06237	0.1416:0.5444:0.1385:0.1754	.	178	Q9Y5E3	PCDB6_HUMAN	Y	42;178	ENSP00000438466:H42Y;ENSP00000231136:H178Y	ENSP00000231136:H178Y	H	+	1	0	PCDHB6	140510554	0.000000	0.05858	0.996000	0.52242	0.950000	0.60333	-0.051000	0.11885	1.098000	0.41479	0.561000	0.74099	CAC		0.542	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		8	181	0	0	0	1	0	8	181				
SDR16C5	195814	broad.mit.edu	37	8	57219234	57219234	+	Splice_Site	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr8:57219234C>T	ENST00000303749.3	-	5	1348		c.e5+1		SDR16C5_ENST00000396721.2_Splice_Site|SDR16C5_ENST00000522671.1_Splice_Site	NM_138969.2	NP_620419.2	Q8N3Y7	RDHE2_HUMAN	short chain dehydrogenase/reductase family 16C, member 5						detection of light stimulus involved in visual perception (GO:0050908)|keratinocyte proliferation (GO:0043616)|retinal metabolic process (GO:0042574)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	retinol dehydrogenase activity (GO:0004745)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						GACATACTTACCCTGTAGTAC	0.289																																						ENST00000396721.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						c.e4+1		short chain dehydrogenase/reductase family 16C, member 5							65.0	66.0	65.0					8																	57219234		2203	4300	6503	SO:0001630	splice_region_variant	195814				detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity	g.chr8:57219234C>T		CCDS6167.1	8q12.1	2011-09-20			ENSG00000170786	ENSG00000170786	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	30311	protein-coding gene	gene with protein product		608989				12372410	Standard	NM_138969		Approved	RDHE2, RDH-E2	uc003xsy.1	Q8N3Y7	OTTHUMG00000164311	ENST00000303749.3:c.710+1G>A	8.37:g.57219234C>T						SDR16C5_ENST00000303749.3_Splice_Site|SDR16C5_ENST00000522671.1_Splice_Site				Q8N3Y7	RDHE2_HUMAN			4	709	-								B4DGK2|Q330K3|Q8TDV9|Q96LX1	Splice_Site	SNP	ENST00000303749.3	37		CCDS6167.1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.432018	0.62844	.	.	ENSG00000170786	ENST00000396721;ENST00000303749;ENST00000522671	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.492	0.95054	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SDR16C5	57381788	1.000000	0.71417	0.952000	0.39060	0.530000	0.34684	7.671000	0.83941	2.614000	0.88457	0.650000	0.86243	.		0.289	SDR16C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378235.1	NM_138969	Intron	42	34	0	0	0	1	0	42	34				
F5	2153	broad.mit.edu	37	1	169499025	169499025	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr1:169499025G>A	ENST00000367797.3	-	16	5441	c.5240C>T	c.(5239-5241)cCc>cTc	p.P1747L	F5_ENST00000367796.3_Missense_Mutation_p.P1752L	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1747	F5/8 type A 3.|Plastocyanin-like 5.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	GATTAGGAGGGGACCTATCAA	0.373																																						ENST00000367796.3																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128						c.(5254-5256)cCc>cTc		coagulation factor V (proaccelerin, labile factor)	Drotrecogin alfa(DB00055)						134.0	131.0	132.0					1																	169499025		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169499025G>A	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.5240C>T	1.37:g.169499025G>A	ENSP00000356771:p.Pro1747Leu					F5_ENST00000367797.3_Missense_Mutation_p.P1747L	p.P1752L			P12259	FA5_HUMAN			16	5456	-	all_hematologic(923;0.208)		1747			F5/8 type A 3.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.5255C>T	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.783401	0.90282	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	D;D	0.99311	-5.73;-5.73	5.5	5.5	0.81552	Cupredoxin (2);	0.000000	0.85682	D	0.000000	D	0.99542	0.9836	M	0.88512	2.96	0.43435	D	0.995608	D	0.89917	1.0	D	0.97110	1.0	D	0.98576	1.0648	9	0.87932	D	0	-20.2651	19.3971	0.94611	0.0:0.0:1.0:0.0	.	1747	P12259	FA5_HUMAN	L	1747;1752	ENSP00000356771:P1747L;ENSP00000356770:P1752L	ENSP00000356770:P1752L	P	-	2	0	F5	167765649	1.000000	0.71417	0.995000	0.50966	0.912000	0.54170	9.197000	0.94985	2.584000	0.87258	0.557000	0.71058	CCC		0.373	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		15	148	0	0	0	1	0	15	148				
CS	1431	broad.mit.edu	37	12	56667394	56667394	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr12:56667394C>A	ENST00000351328.3	-	10	1397	c.1207G>T	c.(1207-1209)Gct>Tct	p.A403S	CS_ENST00000542324.2_Missense_Mutation_p.A390S|CS_ENST00000548567.1_Missense_Mutation_p.A337S	NM_004077.2	NP_004068.2	O75390	CISY_HUMAN	citrate synthase	403					carbohydrate metabolic process (GO:0005975)|cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	citrate (Si)-synthase activity (GO:0004108)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	17		Myeloproliferative disorder(1001;0.000374)		BRCA - Breast invasive adenocarcinoma(357;6.17e-07)		CCACTGTGAGCATCTACATTG	0.453																																						ENST00000548567.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	17						c.(1009-1011)Gct>Tct		citrate synthase							119.0	97.0	105.0					12																	56667394		2203	4300	6503	SO:0001583	missense	1431				cellular carbohydrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	citrate (Si)-synthase activity	g.chr12:56667394C>A		CCDS8913.1	12q13.2	2012-10-02				ENSG00000062485	2.3.3.1		2422	protein-coding gene	gene with protein product		118950					Standard	NM_004077		Approved		uc001sks.1	O75390	OTTHUMG00000170344	ENST00000351328.3:c.1207G>T	12.37:g.56667394C>A	ENSP00000342056:p.Ala403Ser					CS_ENST00000542324.2_Missense_Mutation_p.A390S|CS_ENST00000351328.3_Missense_Mutation_p.A403S	p.A337S			O75390	CISY_HUMAN		BRCA - Breast invasive adenocarcinoma(357;6.17e-07)	11	1479	-		Myeloproliferative disorder(1001;0.000374)	403					Q71UT9|Q7KZH0|Q96FZ8|Q9BWN8	Missense_Mutation	SNP	ENST00000351328.3	37	c.1009G>T	CCDS8913.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.454223	0.84209	.	.	ENSG00000062485	ENST00000548567;ENST00000351328;ENST00000548746;ENST00000542324	.	.	.	5.69	5.69	0.88448	Citrate synthase-like, core (1);	0.000000	0.85682	D	0.000000	T	0.70962	0.3284	L	0.42686	1.345	0.80722	D	1	P;P;P	0.34546	0.456;0.456;0.456	P;P;P	0.51777	0.535;0.612;0.679	T	0.64253	-0.6451	9	0.31617	T	0.26	-13.4602	18.9789	0.92748	0.0:1.0:0.0:0.0	.	390;358;403	B4DJV2;B3KTN4;O75390	.;.;CISY_HUMAN	S	337;403;76;390	.	ENSP00000342056:A403S	A	-	1	0	CS	54953661	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.098000	0.76974	2.865000	0.98341	0.655000	0.94253	GCT		0.453	CS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408588.2	NM_004077		3	82	1	0	1	1	1	3	82				
NAT10	55226	broad.mit.edu	37	11	34161956	34161956	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr11:34161956G>A	ENST00000257829.3	+	24	2635	c.2429G>A	c.(2428-2430)cGg>cAg	p.R810Q	NAT10_ENST00000531159.2_Missense_Mutation_p.R738Q|NAT10_ENST00000527971.1_Intron	NM_024662.2	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	810	Required for localization to the nucleolus and midbody.					membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				GCCCTGAGCCGGGAGGAGCTG	0.577																																						ENST00000257829.3																			0				endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(2428-2430)cGg>cAg		N-acetyltransferase 10 (GCN5-related)							112.0	97.0	102.0					11																	34161956		2202	4298	6500	SO:0001583	missense	55226					nucleolus	ATP binding|N-acetyltransferase activity|protein binding	g.chr11:34161956G>A	AF489535	CCDS7889.1, CCDS44568.1	11p13	2011-11-16	2008-09-24		ENSG00000135372	ENSG00000135372	2.3.1.-		29830	protein-coding gene	gene with protein product		609221	"""N-acetyltransferase 10"""			14592445, 21177859	Standard	NM_024662		Approved	hALP, FLJ10774, FLJ12179, NET43, KIAA1709	uc001mvk.3	Q9H0A0	OTTHUMG00000166249	ENST00000257829.3:c.2429G>A	11.37:g.34161956G>A	ENSP00000257829:p.Arg810Gln					NAT10_ENST00000531159.2_Missense_Mutation_p.R738Q|NAT10_ENST00000527971.1_Intron	p.R810Q	NM_024662.2	NP_078938.2	Q9H0A0	NAT10_HUMAN			24	2635	+		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)	810			Required for localization to the nucleolus and midbody.		B4DFD5|E7ESU4|E9PMN9|Q86WK5|Q9C0F4|Q9HA61|Q9NVF2	Missense_Mutation	SNP	ENST00000257829.3	37	c.2429G>A	CCDS7889.1	.	.	.	.	.	.	.	.	.	.	G	16.20	3.055741	0.55325	.	.	ENSG00000135372	ENST00000257829;ENST00000531159	T;T	0.29655	1.56;1.56	5.28	4.37	0.52481	.	0.145718	0.64402	D	0.000009	T	0.28466	0.0704	L	0.49126	1.545	0.52099	D	0.999942	B	0.16603	0.018	B	0.20184	0.028	T	0.05289	-1.0894	10	0.26408	T	0.33	-19.6006	12.6245	0.56622	0.0774:0.0:0.9226:0.0	.	810	Q9H0A0	NAT10_HUMAN	Q	810;738	ENSP00000257829:R810Q;ENSP00000433011:R738Q	ENSP00000257829:R810Q	R	+	2	0	NAT10	34118532	1.000000	0.71417	0.837000	0.33122	0.209000	0.24338	3.880000	0.56145	1.368000	0.46115	0.563000	0.77884	CGG		0.577	NAT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388693.1	NM_024662		6	119	0	0	0	1	0	6	119				
INTS6	26512	broad.mit.edu	37	13	51939890	51939890	+	Nonstop_Mutation	SNP	A	A	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr13:51939890A>T	ENST00000311234.4	-	18	3134	c.2662T>A	c.(2662-2664)Taa>Aaa	p.*888K	INTS6_ENST00000398119.2_Nonstop_Mutation_p.*875K|INTS6_ENST00000490542.1_Nonstop_Mutation_p.*572K|RP11-24B19.3_ENST00000602636.1_RNA|INTS6_ENST00000425000.1_Nonstop_Mutation_p.*456K|INTS6_ENST00000497989.1_Nonstop_Mutation_p.*710K	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN	integrator complex subunit 6	0					signal transduction (GO:0007165)|snRNA processing (GO:0016180)	actin cytoskeleton (GO:0015629)|integrator complex (GO:0032039)|nucleus (GO:0005634)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		ATTTTCTTTTAATTGCTATTA	0.318																																						ENST00000311234.4																			0				NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(2662-2664)Taa>Aaa		integrator complex subunit 6							74.0	74.0	74.0					13																	51939890		2199	4288	6487	SO:0001578	stop_lost	26512				snRNA processing	actin cytoskeleton|integrator complex	protein binding|transmembrane receptor activity	g.chr13:51939890A>T	AF097645	CCDS9428.1, CCDS41890.1, CCDS45048.1	13q14.3	2010-08-20	2006-03-15	2006-03-15	ENSG00000102786	ENSG00000102786		"""DEAD-boxes"""	14879	protein-coding gene	gene with protein product		604331	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26"""	DDX26		10467397, 16239144	Standard	XM_005266340		Approved	DICE1, HDB, Notchl2, DBI-1, DDX26A, INT6	uc001vfk.3	Q9UL03	OTTHUMG00000016945	ENST00000311234.4:c.2662T>A	13.37:g.51939890A>T						INTS6_ENST00000497989.1_Nonstop_Mutation_p.*710K|INTS6_ENST00000425000.1_Nonstop_Mutation_p.*456K|INTS6_ENST00000490542.1_Nonstop_Mutation_p.*572K|INTS6_ENST00000398119.2_Nonstop_Mutation_p.*875K	p.*888K	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN		GBM - Glioblastoma multiforme(99;7.7e-08)	18	3134	-		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)	0					Q0P664|Q6PJP4|Q9UFK0|Q9Y5M9	Nonstop_Mutation	SNP	ENST00000311234.4	37	c.2662T>A	CCDS9428.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.028748	0.75504	.	.	ENSG00000102786	ENST00000311234;ENST00000398119;ENST00000497989;ENST00000425000;ENST00000490542	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.745	0.69483	1.0:0.0:0.0:0.0	.	.	.	.	K	888;875;710;456;572	.	.	X	-	1	0	INTS6	50837891	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.409000	0.73289	2.080000	0.62538	0.455000	0.32223	TAA		0.318	INTS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045023.1	NM_012141		3	16	0	0	0	1	0	3	16				
CCDC88C	440193	broad.mit.edu	37	14	91779454	91779454	+	Silent	SNP	C	C	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr14:91779454C>A	ENST00000389857.6	-	15	2792	c.2706G>T	c.(2704-2706)gtG>gtT	p.V902V		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	902					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TCCTTGCATGCACGGTGACTT	0.617																																						ENST00000389857.6																			0				central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24						c.(2704-2706)gtG>gtT		coiled-coil domain containing 88C							116.0	114.0	115.0					14																	91779454		2124	4246	6370	SO:0001819	synonymous_variant	440193				microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association	g.chr14:91779454C>A		CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"""Dvl-associating protein with a high frequency of leucine residues"", ""spinocerebellar ataxia 40"""	611204	"""KIAA1509"""	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.2706G>T	14.37:g.91779454C>A							p.V902V	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN			15	2792	-		all_cancers(154;0.0468)	902					Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Silent	SNP	ENST00000389857.6	37	c.2706G>T	CCDS45151.1																																																																																				0.617	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	XM_029353		4	88	1	0	0.150653	1	0.152971	4	88				
ARHGEF10L	55160	broad.mit.edu	37	1	17928647	17928647	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr1:17928647G>T	ENST00000361221.3	+	5	442	c.283G>T	c.(283-285)Gat>Tat	p.D95Y	ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.D95Y|ARHGEF10L_ENST00000375420.3_5'UTR|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.D95Y|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.D95Y	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	95						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		GAGCAATGGGGATGCAGCGGA	0.682																																						ENST00000361221.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(283-285)Gat>Tat		Rho guanine nucleotide exchange factor (GEF) 10-like							23.0	26.0	25.0					1																	17928647		2192	4291	6483	SO:0001583	missense	55160				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr1:17928647G>T	AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964		"""Rho guanine nucleotide exchange factors"""	25540	protein-coding gene	gene with protein product	"""GrinchGEF"""	612494				10997877, 16112081	Standard	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.283G>T	1.37:g.17928647G>T	ENSP00000355060:p.Asp95Tyr					ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.D95Y|ARHGEF10L_ENST00000375420.3_5'UTR|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.D95Y|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.D95Y	p.D95Y	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)	5	442	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	95					B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Missense_Mutation	SNP	ENST00000361221.3	37	c.283G>T	CCDS182.1	.	.	.	.	.	.	.	.	.	.	G	12.26	1.884838	0.33255	.	.	ENSG00000074964	ENST00000361221;ENST00000452522;ENST00000434513;ENST00000375415	T;T;T;T	0.62941	0.18;0.14;-0.01;0.14	4.91	3.97	0.46021	.	0.434509	0.21850	N	0.068185	T	0.48021	0.1477	N	0.24115	0.695	0.80722	D	1	B;B;B;B	0.33212	0.402;0.402;0.156;0.097	B;B;B;B	0.32805	0.153;0.153;0.153;0.073	T	0.50617	-0.8807	10	0.66056	D	0.02	-2.0075	12.0843	0.53688	0.0:0.174:0.826:0.0	.	95;95;95;95	Q9HCE6-5;Q9HCE6-3;Q9HCE6-2;Q9HCE6	.;.;.;ARGAL_HUMAN	Y	95	ENSP00000355060:D95Y;ENSP00000399401:D95Y;ENSP00000394621:D95Y;ENSP00000364564:D95Y	ENSP00000355060:D95Y	D	+	1	0	ARHGEF10L	17801234	1.000000	0.71417	0.947000	0.38551	0.436000	0.31835	3.829000	0.55760	1.005000	0.39183	0.455000	0.32223	GAT		0.682	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007147.1	NM_018125		6	13	1	0	0.00116845	1	0.00125394	6	13				
JAK1	3716	broad.mit.edu	37	1	65310505	65310505	+	Missense_Mutation	SNP	T	T	C	rs530773982		TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr1:65310505T>C	ENST00000342505.4	-	16	2431	c.2183A>G	c.(2182-2184)gAc>gGc	p.D728G	JAK1_ENST00000465376.1_5'UTR	NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	728	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	ACACTCACTGTCGATGCCCTC	0.542			Mis		ALL								T|||	1	0.000199681	0.0	0.0	5008	,	,		19020	0.001		0.0	False		,,,				2504	0.0					ENST00000342505.4				Dom	yes		1	1p32.3-p31.3	3716	Mis	Janus kinase 1			L			ALL		0				breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						c.(2182-2184)gAc>gGc		Janus kinase 1							96.0	111.0	106.0					1																	65310505		2107	4222	6329	SO:0001583	missense	3716				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr1:65310505T>C	M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.2183A>G	1.37:g.65310505T>C	ENSP00000343204:p.Asp728Gly					JAK1_ENST00000465376.1_5'UTR	p.D728G	NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN		BRCA - Breast invasive adenocarcinoma(111;0.0485)	16	2431	-			728			Protein kinase 1.		Q59GQ2|Q9UD26	Missense_Mutation	SNP	ENST00000342505.4	37	c.2183A>G	CCDS41346.1	.	.	.	.	.	.	.	.	.	.	T	12.13	1.846161	0.32606	.	.	ENSG00000162434	ENST00000342505	T	0.77489	-1.1	5.0	5.0	0.66597	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.57844	0.2081	L	0.39692	1.235	0.48830	D	0.999718	B	0.21309	0.054	B	0.20955	0.032	T	0.57602	-0.7783	9	0.28530	T	0.3	-9.7751	14.8844	0.70557	0.0:0.0:0.0:1.0	.	728	P23458	JAK1_HUMAN	G	728	ENSP00000343204:D728G	ENSP00000343204:D728G	D	-	2	0	JAK1	65083093	0.996000	0.38824	0.855000	0.33649	0.645000	0.38454	2.676000	0.46883	2.112000	0.64535	0.460000	0.39030	GAC		0.542	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025791.1	NM_002227		3	44	0	0	0	1	0	3	44				
SGCE	8910	broad.mit.edu	37	7	94257637	94257637	+	Silent	SNP	T	T	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr7:94257637T>A	ENST00000265735.7	-	3	377	c.267A>T	c.(265-267)acA>acT	p.T89T	SGCE_ENST00000445866.2_Silent_p.T89T|SGCE_ENST00000428696.2_Silent_p.T89T|SGCE_ENST00000415788.2_Silent_p.T125T|SGCE_ENST00000447873.1_Silent_p.T89T|SGCE_ENST00000437425.2_Silent_p.T48T	NM_003919.2	NP_003910.1	O43556	SGCE_HUMAN	sarcoglycan, epsilon	89					cell-matrix adhesion (GO:0007160)|muscle organ development (GO:0007517)	cytoskeleton (GO:0005856)|dendrite membrane (GO:0032590)|dystrophin-associated glycoprotein complex (GO:0016010)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	14	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			CCATTAAATTTGTATTAAATG	0.383																																						ENST00000415788.2																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	14						c.(373-375)acA>acT		sarcoglycan, epsilon							73.0	69.0	70.0					7																	94257637		2203	4299	6502	SO:0001819	synonymous_variant	8910				cell-matrix adhesion|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma	calcium ion binding	g.chr7:94257637T>A	AF036364	CCDS5637.1, CCDS47642.1, CCDS47643.1, CCDS75634.1	7q21.3	2014-09-17			ENSG00000127990	ENSG00000127990			10808	protein-coding gene	gene with protein product		604149		DYT11		9475163, 9405466	Standard	NM_001099401		Approved		uc003unn.2	O43556	OTTHUMG00000022828	ENST00000265735.7:c.267A>T	7.37:g.94257637T>A						SGCE_ENST00000445866.2_Silent_p.T89T|SGCE_ENST00000265735.7_Silent_p.T89T|SGCE_ENST00000447873.1_Silent_p.T89T|SGCE_ENST00000437425.2_Silent_p.T48T|SGCE_ENST00000428696.2_Silent_p.T89T	p.T125T			O43556	SGCE_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		4	462	-	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		89					B2R8N2|D6W5Q8|E9PF60|G5E9K6|Q6L8P0|Q75MH8|Q8NFG8|Q8WW28	Silent	SNP	ENST00000265735.7	37	c.375A>T	CCDS5637.1																																																																																				0.383	SGCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255251.2			22	18	0	0	0	1	0	22	18				
COL25A1	84570	broad.mit.edu	37	4	109753571	109753571	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr4:109753571C>T	ENST00000399132.1	-	32	2205	c.1675G>A	c.(1675-1677)Gga>Aga	p.G559R	COL25A1_ENST00000399126.1_Missense_Mutation_p.G559R|COL25A1_ENST00000399127.1_Missense_Mutation_p.G571R	NM_198721.2	NP_942014.1			collagen, type XXV, alpha 1											NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CCATGGGGTCCCATAGGACCA	0.393																																						ENST00000399132.1																			0				NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49						c.(1675-1677)Gga>Aga		collagen, type XXV, alpha 1							57.0	55.0	56.0					4																	109753571		1817	4073	5890	SO:0001583	missense	84570					collagen|extracellular space	beta-amyloid binding|heparin binding	g.chr4:109753571C>T	AF293340	CCDS43258.1, CCDS43259.1, CCDS58922.1	4q25	2013-01-16			ENSG00000188517	ENSG00000188517		"""Collagens"""	18603	protein-coding gene	gene with protein product		610004				11927537	Standard	NM_001256074		Approved		uc003hze.2	Q9BXS0	OTTHUMG00000150039	ENST00000399132.1:c.1675G>A	4.37:g.109753571C>T	ENSP00000382083:p.Gly559Arg					COL25A1_ENST00000399127.1_Missense_Mutation_p.G571R|COL25A1_ENST00000399126.1_Missense_Mutation_p.G559R	p.G559R	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000173)	32	2205	-		Hepatocellular(203;0.217)	559						Missense_Mutation	SNP	ENST00000399132.1	37	c.1675G>A	CCDS43258.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.77|16.77	3.215867|3.215867	0.58452|0.58452	.|.	.|.	ENSG00000188517|ENSG00000188517	ENST00000443653|ENST00000399132;ENST00000333642;ENST00000401873;ENST00000399127;ENST00000399126	.|D;D;D	.|0.99537	.|-6.11;-5.77;-6.11	5.68|5.68	5.68|5.68	0.88126|0.88126	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.99832|0.99832	0.9924|0.9924	H|H	0.97962|0.97962	4.115|4.115	0.58432|0.58432	D|D	0.999991|0.999991	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;1.0	D|D	0.96949|0.96949	0.9693|0.9693	6|9	.|.	.|.	.|.	-7.6765|-7.6765	20.1325|20.1325	0.98004|0.98004	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|559;559	.|Q9BXS0-2;Q9BXS0	.|.;COPA1_HUMAN	E|R	486|559;561;540;571;559	.|ENSP00000382083:G559R;ENSP00000382078:G571R;ENSP00000382077:G559R	.|.	G|G	-|-	2|1	0|0	COL25A1|COL25A1	109973020|109973020	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	5.871000|5.871000	0.69628|0.69628	2.839000|2.839000	0.97877|0.97877	0.650000|0.650000	0.86243|0.86243	GGG|GGA		0.393	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315938.2	NM_032518		3	60	0	0	0	1	0	3	60				
COBLL1	22837	broad.mit.edu	37	2	165551206	165551206	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr2:165551206A>G	ENST00000392717.2	-	13	2928	c.2924T>C	c.(2923-2925)cTg>cCg	p.L975P	COBLL1_ENST00000342193.4_Missense_Mutation_p.L937P|COBLL1_ENST00000375458.2_Missense_Mutation_p.L899P|COBLL1_ENST00000194871.6_Missense_Mutation_p.L1004P|COBLL1_ENST00000409184.3_Missense_Mutation_p.L937P			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	975						extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						TTTATTTGTCAGTTCTTTTGG	0.463																																						ENST00000375458.2																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						c.(2695-2697)cTg>cCg		cordon-bleu WH2 repeat protein-like 1							50.0	52.0	51.0					2																	165551206		2203	4300	6503	SO:0001583	missense	22837							g.chr2:165551206A>G	AB023194	CCDS2223.2, CCDS63045.1	2q24.3	2012-12-07	2012-12-07		ENSG00000082438	ENSG00000082438			23571	protein-coding gene	gene with protein product		610318	"""COBL-like 1"""				Standard	NM_001278458		Approved	KIAA0977	uc002ucp.3	Q53SF7	OTTHUMG00000074019	ENST00000392717.2:c.2924T>C	2.37:g.165551206A>G	ENSP00000376478:p.Leu975Pro					COBLL1_ENST00000342193.4_Missense_Mutation_p.L937P|COBLL1_ENST00000194871.6_Missense_Mutation_p.L1004P|COBLL1_ENST00000392717.2_Missense_Mutation_p.L975P|COBLL1_ENST00000409184.3_Missense_Mutation_p.L937P	p.L899P	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN			11	2917	-			975					A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Missense_Mutation	SNP	ENST00000392717.2	37	c.2696T>C		.	.	.	.	.	.	.	.	.	.	A	2.427	-0.331755	0.05314	.	.	ENSG00000082438	ENST00000375458;ENST00000342193;ENST00000409184;ENST00000392717;ENST00000194871	.	.	.	5.61	0.615	0.17608	.	0.824234	0.10661	N	0.648756	T	0.16811	0.0404	N	0.10809	0.05	0.22142	N	0.999331	B;B;B	0.16166	0.007;0.016;0.013	B;B;B	0.15870	0.006;0.009;0.014	T	0.24012	-1.0172	9	0.30078	T	0.28	-0.2854	4.4061	0.11409	0.5501:0.0:0.3098:0.1401	.	975;1004;937	Q53SF7;B7Z2P5;Q53SF7-2	COBL1_HUMAN;.;.	P	899;937;937;975;1004	.	ENSP00000194871:L1004P	L	-	2	0	COBLL1	165259452	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	-0.119000	0.10676	-0.118000	0.11851	0.533000	0.62120	CTG		0.463	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014900		3	113	0	0	0	1	0	3	113				
FOXN1	8456	broad.mit.edu	37	17	26864323	26864323	+	Missense_Mutation	SNP	G	G	A	rs528722201	byFrequency	TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr17:26864323G>A	ENST00000226247.2	+	8	1845	c.1816G>A	c.(1816-1818)Ggg>Agg	p.G606R	FOXN1_ENST00000579795.1_Missense_Mutation_p.G606R	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	606					defense response (GO:0006952)|epidermis development (GO:0008544)|epithelial cell proliferation (GO:0050673)|hair follicle development (GO:0001942)|keratinocyte differentiation (GO:0030216)|lymphocyte homeostasis (GO:0002260)|nail development (GO:0035878)|organ morphogenesis (GO:0009887)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					TGGTGGCTCCGGGGCACTGGG	0.682													G|||	2	0.000399361	0.0015	0.0	5008	,	,		16283	0.0		0.0	False		,,,				2504	0.0					ENST00000226247.2																			0				endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1816-1818)Ggg>Agg		forkhead box N1							34.0	36.0	35.0					17																	26864323		2203	4299	6502	SO:0001583	missense	8456				defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr17:26864323G>A	Y11739	CCDS11232.1	17q11-q12	2014-09-17	2003-06-12	2003-06-13	ENSG00000109101	ENSG00000109101		"""Forkhead boxes"""	12765	protein-coding gene	gene with protein product		600838	"""winged-helix nude"", ""Rowett nude"""	WHN, RONU		9321431	Standard	NM_003593		Approved	FKHL20	uc002hbj.3	O15353	OTTHUMG00000132603	ENST00000226247.2:c.1816G>A	17.37:g.26864323G>A	ENSP00000226247:p.Gly606Arg					FOXN1_ENST00000579795.1_Missense_Mutation_p.G606R	p.G606R	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN			8	1845	+	Lung NSC(42;0.00431)		606					B2R9Q7|O15352	Missense_Mutation	SNP	ENST00000226247.2	37	c.1816G>A	CCDS11232.1	.	.	.	.	.	.	.	.	.	.	G	10.29	1.310298	0.23821	.	.	ENSG00000109101	ENST00000226247	D	0.92545	-3.06	4.2	3.14	0.36123	.	0.363922	0.25161	N	0.032671	D	0.82995	0.5158	L	0.29908	0.895	0.09310	N	1	P	0.42584	0.784	B	0.35470	0.203	T	0.75252	-0.3383	10	0.35671	T	0.21	.	7.6327	0.28249	0.1486:0.1627:0.6887:0.0	.	606	O15353	FOXN1_HUMAN	R	606	ENSP00000226247:G606R	ENSP00000226247:G606R	G	+	1	0	FOXN1	23888450	0.168000	0.22989	0.889000	0.34880	0.413000	0.31143	2.904000	0.48719	2.128000	0.65567	0.462000	0.41574	GGG		0.682	FOXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255832.1			9	31	0	0	0	1	0	9	31				
TCF20	6942	broad.mit.edu	37	22	42606197	42606197	+	Silent	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr22:42606197G>A	ENST00000359486.3	-	1	5251	c.5115C>T	c.(5113-5115)tgC>tgT	p.C1705C	TCF20_ENST00000335626.4_Silent_p.C1705C|TCF20_ENST00000404876.1_Silent_p.C6C	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1705					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CACACAGACAGCAAACCAGGT	0.552																																						ENST00000359486.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						c.(5113-5115)tgC>tgT		transcription factor 20 (AR1)							68.0	68.0	68.0					22																	42606197		2203	4300	6503	SO:0001819	synonymous_variant	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42606197G>A	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.5115C>T	22.37:g.42606197G>A						TCF20_ENST00000404876.1_Silent_p.C6C|TCF20_ENST00000335626.4_Silent_p.C1705C	p.C1705C	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN			1	5251	-			1705					A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Silent	SNP	ENST00000359486.3	37	c.5115C>T	CCDS14033.1																																																																																				0.552	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		4	91	0	0	0	1	0	4	91				
GAPDH	2597	broad.mit.edu	37	12	6646512	6646512	+	Missense_Mutation	SNP	G	G	T	rs77154254		TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr12:6646512G>T	ENST00000229239.5	+	7	1147	c.481G>T	c.(481-483)Gcc>Tcc	p.A161S	GAPDH_ENST00000396859.1_Missense_Mutation_p.A161S|GAPDH_ENST00000396858.1_Missense_Mutation_p.A119S|GAPDH_ENST00000396856.1_Missense_Mutation_p.A86S|GAPDH_ENST00000396861.1_Missense_Mutation_p.A161S|RP5-940J5.9_ENST00000602946.1_RNA	NM_002046.4	NP_002037.2	P04406	G3P_HUMAN	glyceraldehyde-3-phosphate dehydrogenase	161					carbohydrate metabolic process (GO:0005975)|cellular response to interferon-gamma (GO:0071346)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of translation (GO:0017148)|neuron apoptotic process (GO:0051402)|peptidyl-cysteine S-trans-nitrosylation (GO:0035606)|protein stabilization (GO:0050821)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GAIT complex (GO:0097452)|lipid particle (GO:0005811)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)|vesicle (GO:0031982)	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity (GO:0004365)|identical protein binding (GO:0042802)|microtubule binding (GO:0008017)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|peptidyl-cysteine S-nitrosylase activity (GO:0035605)	p.A161S(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|lung(4)	7						AGCACCCCTGGCCAAGGTCAT	0.577																																						ENST00000229239.5																			1	Substitution - Missense(1)	p.A161S(1)	lung(1)	central_nervous_system(1)|cervix(1)|endometrium(1)|lung(4)	7						c.(481-483)Gcc>Tcc		glyceraldehyde-3-phosphate dehydrogenase	NADH(DB00157)						59.0	56.0	57.0					12																	6646512		2203	4300	6503	SO:0001583	missense	2597				gluconeogenesis|glycolysis|neuron apoptosis|peptidyl-cysteine S-trans-nitrosylation|protein stabilization	cytosol|membrane|nucleus|perinuclear region of cytoplasm	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|peptidyl-cysteine S-nitrosylase activity|protein binding	g.chr12:6646512G>T	AF261085	CCDS8549.1, CCDS58201.1	12p13.31	2012-10-02		2005-05-06	ENSG00000111640	ENSG00000111640	1.2.1.12		4141	protein-coding gene	gene with protein product		138400		GAPD		3170585	Standard	NM_002046		Approved		uc001qop.2	P04406	OTTHUMG00000137379	ENST00000229239.5:c.481G>T	12.37:g.6646512G>T	ENSP00000229239:p.Ala161Ser					GAPDH_ENST00000396861.1_Missense_Mutation_p.A161S|GAPDH_ENST00000396859.1_Missense_Mutation_p.A161S|GAPDH_ENST00000396856.1_Missense_Mutation_p.A86S|GAPDH_ENST00000396858.1_Missense_Mutation_p.A119S	p.A161S	NM_002046.4	NP_002037.2	P04406	G3P_HUMAN			7	1147	+			161					E7EUT4|P00354|Q53X65	Missense_Mutation	SNP	ENST00000229239.5	37	c.481G>T	CCDS8549.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.579859	0.86645	.	.	ENSG00000111640	ENST00000229239;ENST00000450282;ENST00000396856;ENST00000396861;ENST00000396859;ENST00000396858	T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76	4.62	4.62	0.57501	Glyceraldehyde 3-phosphate dehydrogenase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.78381	0.4274	H	0.97940	4.11	0.50632	D	0.99988	P;P;B;B;B	0.41524	0.753;0.753;0.159;0.019;0.008	P;P;B;B;B	0.55161	0.77;0.77;0.239;0.329;0.157	D	0.86197	0.1616	10	0.72032	D	0.01	.	17.6697	0.88213	0.0:0.0:1.0:0.0	.	119;136;161;86;161	E7EUT4;Q0QET7;Q2TSD0;E7EUT5;P04406	.;.;.;.;G3P_HUMAN	S	161;161;86;161;161;119	ENSP00000229239:A161S;ENSP00000380065:A86S;ENSP00000380070:A161S;ENSP00000380068:A161S;ENSP00000380067:A119S	ENSP00000229239:A161S	A	+	1	0	GAPDH	6516773	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.652000	0.83633	2.403000	0.81681	0.561000	0.74099	GCC		0.577	GAPDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268059.1	NM_002046		3	28	1	0	0.00024832	1	0.000273152	3	28				
WDTC1	23038	broad.mit.edu	37	1	27609919	27609919	+	Silent	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr1:27609919C>T	ENST00000319394.3	+	5	805	c.270C>T	c.(268-270)acC>acT	p.T90T	WDTC1_ENST00000361771.3_Silent_p.T90T	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	90					cellular chemical homeostasis (GO:0055082)|cellular response to insulin stimulus (GO:0032869)|glucose metabolic process (GO:0006006)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell size (GO:0008361)	cytosol (GO:0005829)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		CGGGACACACCGCAAATATCT	0.562																																						ENST00000319394.3																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21						c.(268-270)acC>acT		WD and tetratricopeptide repeats 1							88.0	73.0	78.0					1																	27609919		2203	4300	6503	SO:0001819	synonymous_variant	23038						protein binding	g.chr1:27609919C>T	AK023778	CCDS296.1, CCDS60044.1	1p35.3	2013-01-11			ENSG00000142784	ENSG00000142784		"""DDB1 and CUL4 associated factors"", ""WD repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29175	protein-coding gene	gene with protein product	"""adipose homolog (Drosophila)"", ""DDB1 and CUL4 associated factor 9"""					12717455, 19238144	Standard	NM_015023		Approved	KIAA1037, ADP, DCAF9	uc009vst.3	Q8N5D0	OTTHUMG00000004273	ENST00000319394.3:c.270C>T	1.37:g.27609919C>T						WDTC1_ENST00000361771.3_Silent_p.T90T	p.T90T	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)	5	805	+		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)	90					D3DPL5|Q5SSC5|Q9NV87|Q9UPW4	Silent	SNP	ENST00000319394.3	37	c.270C>T																																																																																					0.562	WDTC1-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015023		36	34	0	0	0	1	0	36	34				
HOXB3	3213	broad.mit.edu	37	17	46628327	46628327	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr17:46628327G>A	ENST00000470495.1	-	2	2112	c.665C>T	c.(664-666)gCc>gTc	p.A222V	HOXB3_ENST00000311626.4_Missense_Mutation_p.A222V|HOXB3_ENST00000498678.1_Missense_Mutation_p.A222V|HOXB3_ENST00000489475.1_Missense_Mutation_p.A149V|HOXB3_ENST00000485909.2_Missense_Mutation_p.A90V|HOXB3_ENST00000476342.1_Missense_Mutation_p.A222V|HOXB3_ENST00000472863.1_Missense_Mutation_p.A149V|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000490677.1_Missense_Mutation_p.A88V|HOXB-AS1_ENST00000435312.1_RNA|HOXB-AS1_ENST00000508688.1_RNA|HOXB3_ENST00000460160.1_Missense_Mutation_p.A90V|HOXB-AS3_ENST00000465846.2_RNA			P14651	HXB3_HUMAN	homeobox B3	222					angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|cartilage development (GO:0051216)|definitive hemopoiesis (GO:0060216)|embryonic skeletal system morphogenesis (GO:0048704)|face development (GO:0060324)|glossopharyngeal nerve morphogenesis (GO:0021615)|hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neurogenesis (GO:0050767)|rhombomere development (GO:0021546)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						CAGCAGGTTGGCCATCTCTAC	0.607																																						ENST00000470495.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						c.(664-666)gCc>gTc		homeobox B3							101.0	102.0	101.0					17																	46628327		2203	4300	6503	SO:0001583	missense	3213				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46628327G>A		CCDS11528.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120093	ENSG00000120093		"""Homeoboxes / ANTP class : HOXL subclass"""	5114	protein-coding gene	gene with protein product		142966	"""homeo box B3"""	HOX2, HOX2G		1973146, 1358459	Standard	XM_006721854		Approved		uc002ino.3	P14651	OTTHUMG00000159922	ENST00000470495.1:c.665C>T	17.37:g.46628327G>A	ENSP00000417207:p.Ala222Val					HOXB3_ENST00000498678.1_Missense_Mutation_p.A222V|HOXB-AS1_ENST00000508688.1_RNA|HOXB3_ENST00000472863.1_Missense_Mutation_p.A149V|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000476342.1_Missense_Mutation_p.A222V|HOXB3_ENST00000460160.1_Missense_Mutation_p.A90V|HOXB3_ENST00000311626.4_Missense_Mutation_p.A222V|HOXB3_ENST00000489475.1_Missense_Mutation_p.A149V|HOXB-AS1_ENST00000435312.1_RNA|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000490677.1_Missense_Mutation_p.A88V|HOXB3_ENST00000485909.2_Missense_Mutation_p.A90V	p.A222V			P14651	HXB3_HUMAN			2	2112	-			222					A8K567|B7Z5N8|B7Z5P8|B7ZAD0|D3DTV3|O95615|P17484	Missense_Mutation	SNP	ENST00000470495.1	37	c.665C>T	CCDS11528.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.599298	0.87055	.	.	ENSG00000120093	ENST00000470495;ENST00000472863;ENST00000311626;ENST00000498678;ENST00000490677;ENST00000460160;ENST00000485909;ENST00000489475;ENST00000476342	D;D;D;D;D;D;D;D;D	0.98362	-4.89;-4.89;-4.89;-4.89;-4.89;-4.89;-4.89;-4.89;-4.89	3.31	3.31	0.37934	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.98795	0.9594	M	0.93550	3.43	0.80722	D	1	P	0.48016	0.904	P	0.52758	0.708	D	0.99824	1.1049	10	0.87932	D	0	.	15.2207	0.73308	0.0:0.0:1.0:0.0	.	222	P14651	HXB3_HUMAN	V	222;149;222;222;88;90;90;149;222	ENSP00000417207:A222V;ENSP00000419676:A149V;ENSP00000308252:A222V;ENSP00000420595:A222V;ENSP00000449977:A88V;ENSP00000418035:A90V;ENSP00000438747:A90V;ENSP00000418729:A149V;ENSP00000418892:A222V	ENSP00000308252:A222V	A	-	2	0	HOXB3	43983326	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.945000	0.92985	1.880000	0.54463	0.644000	0.83932	GCC		0.607	HOXB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358261.1			4	69	0	0	0	1	0	4	69				
OR4Q3	441669	broad.mit.edu	37	14	20215690	20215690	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr14:20215690A>T	ENST00000331723.1	+	1	104	c.104A>T	c.(103-105)tAc>tTc	p.Y35F		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	35						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTGTTTTTTTACATTGCTATT	0.378																																						ENST00000331723.1																			0				NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47						c.(103-105)tAc>tTc		olfactory receptor, family 4, subfamily Q, member 3							169.0	173.0	172.0					14																	20215690		2203	4300	6503	SO:0001583	missense	441669				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20215690A>T	AF179768	CCDS32020.1	14p13	2012-08-09				ENSG00000182652		"""GPCR / Class A : Olfactory receptors"""	15426	protein-coding gene	gene with protein product				OR4Q4			Standard	NM_172194		Approved	C14orf13	uc010tkt.2	Q8NH05		ENST00000331723.1:c.104A>T	14.37:g.20215690A>T	ENSP00000330049:p.Tyr35Phe						p.Y35F	NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	104	+	all_cancers(95;0.00108)		35					Q6IEX4	Missense_Mutation	SNP	ENST00000331723.1	37	c.104A>T	CCDS32020.1	.	.	.	.	.	.	.	.	.	.	.	12.51	1.958973	0.34565	.	.	ENSG00000182652	ENST00000331723	T	0.04406	3.63	4.32	3.09	0.35607	.	0.000000	0.36591	U	0.002508	T	0.10637	0.0260	M	0.85542	2.76	0.27984	N	0.935927	P	0.46512	0.879	P	0.44518	0.452	T	0.06991	-1.0796	10	0.87932	D	0	.	8.4189	0.32687	0.8259:0.0:0.0:0.1741	.	35	Q8NH05	OR4Q3_HUMAN	F	35	ENSP00000330049:Y35F	ENSP00000330049:Y35F	Y	+	2	0	OR4Q3	19285530	0.740000	0.28207	0.136000	0.22124	0.867000	0.49689	1.606000	0.36826	1.814000	0.52955	0.416000	0.27883	TAC		0.378	OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409818.2			5	331	0	0	0	1	0	5	331				
VPS41	27072	broad.mit.edu	37	7	38816289	38816289	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr7:38816289G>A	ENST00000310301.4	-	11	926	c.872C>T	c.(871-873)tCa>tTa	p.S291L	VPS41_ENST00000466017.1_5'UTR|VPS41_ENST00000395969.2_Missense_Mutation_p.S266L	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	291					Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	cytosol (GO:0005829)|early endosome (GO:0005769)|Golgi-associated vesicle (GO:0005798)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						CGTTTTTTCTGAAATCTCCTT	0.403																																						ENST00000310301.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						c.(871-873)tCa>tTa		vacuolar protein sorting 41 homolog (S. cerevisiae)							84.0	75.0	78.0					7																	38816289		2203	4300	6503	SO:0001583	missense	27072				Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding	g.chr7:38816289G>A	U87309	CCDS5457.1, CCDS5458.2	7p14.1-p13	2009-05-08	2006-12-19		ENSG00000006715	ENSG00000006715			12713	protein-coding gene	gene with protein product		605485	"""vacuolar protein sorting 41 (yeast homolog)"", ""vacuolar protein sorting 41 (yeast)"""			9159129	Standard	NM_080631		Approved	HVSP41	uc003tgy.3	P49754	OTTHUMG00000023629	ENST00000310301.4:c.872C>T	7.37:g.38816289G>A	ENSP00000309457:p.Ser291Leu					VPS41_ENST00000395969.2_Missense_Mutation_p.S266L|VPS41_ENST00000466017.1_5'UTR	p.S291L	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN			11	926	-			291					E9PF36|Q86TP8|Q99851|Q99852	Missense_Mutation	SNP	ENST00000310301.4	37	c.872C>T	CCDS5457.1	.	.	.	.	.	.	.	.	.	.	G	17.29	3.350936	0.61183	.	.	ENSG00000006715	ENST00000310301;ENST00000395969	T;T	0.52526	0.66;0.66	6.06	5.17	0.71159	.	0.371341	0.31415	N	0.007690	T	0.38852	0.1056	L	0.42529	1.33	0.45979	D	0.998791	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.14392	-1.0474	10	0.37606	T	0.19	-5.7921	10.9195	0.47156	0.1387:0.0:0.8613:0.0	.	291;266;291	B2RB94;E9PF36;P49754	.;.;VPS41_HUMAN	L	291;266	ENSP00000309457:S291L;ENSP00000379297:S266L	ENSP00000309457:S291L	S	-	2	0	VPS41	38782814	1.000000	0.71417	0.986000	0.45419	0.988000	0.76386	4.508000	0.60441	2.882000	0.98803	0.655000	0.94253	TCA		0.403	VPS41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226986.3			8	19	0	0	0	1	0	8	19				
PCNT	5116	broad.mit.edu	37	21	47769001	47769001	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr21:47769001C>A	ENST00000359568.5	+	7	1215	c.1108C>A	c.(1108-1110)Caa>Aaa	p.Q370K	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	370	Glu-rich.				brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					TGCAAAGCATCAATCAGAAAT	0.343																																						ENST00000359568.5																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104						c.(1108-1110)Caa>Aaa		pericentrin							111.0	122.0	118.0					21																	47769001		2203	4300	6503	SO:0001583	missense	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47769001C>A	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.1108C>A	21.37:g.47769001C>A	ENSP00000352572:p.Gln370Lys					PCNT_ENST00000480896.1_3'UTR	p.Q370K	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN			7	1215	+	Breast(49;0.112)		370			Glu-rich.		O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	c.1108C>A	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	C	3.970	-0.008617	0.07727	.	.	ENSG00000160299	ENST00000359568;ENST00000337772	T	0.27256	1.68	5.79	5.79	0.91817	.	0.293184	0.18621	N	0.135848	T	0.15305	0.0369	N	0.17082	0.46	0.22156	N	0.999321	P;P	0.41673	0.759;0.647	B;B	0.38755	0.281;0.146	T	0.13548	-1.0505	10	0.08837	T	0.75	.	13.8757	0.63651	0.1517:0.8483:0.0:0.0	.	252;370	O95613-2;O95613	.;PCNT_HUMAN	K	370;357	ENSP00000352572:Q370K	ENSP00000338675:Q357K	Q	+	1	0	PCNT	46593429	0.854000	0.29725	0.493000	0.27502	0.129000	0.20672	1.638000	0.37165	2.746000	0.94184	0.638000	0.83543	CAA		0.343	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		10	184	1	0	0.000308642	1	0.0003367	10	184				
ZNF654	55279	broad.mit.edu	37	3	88189697	88189697	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr3:88189697A>G	ENST00000309495.5	+	1	1444	c.1237A>G	c.(1237-1239)Atg>Gtg	p.M413V	CGGBP1_ENST00000462901.1_Intron	NM_018293.2	NP_060763.2	Q8IZM8	ZN654_HUMAN	zinc finger protein 654	413					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3)	12		Lung NSC(201;0.0283)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		AGACCAAAAGATGCCTGACAT	0.343																																						ENST00000309495.5																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3)	12						c.(1237-1239)Atg>Gtg		zinc finger protein 654							70.0	72.0	71.0					3																	88189697		1858	4095	5953	SO:0001583	missense	55279				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:88189697A>G	AF543494	CCDS46874.1	3p11.1	2005-01-10			ENSG00000175105	ENSG00000175105			25612	protein-coding gene	gene with protein product							Standard	NM_018293		Approved	FLJ10997, FLJ21142	uc003dqv.3	Q8IZM8	OTTHUMG00000159097	ENST00000309495.5:c.1237A>G	3.37:g.88189697A>G	ENSP00000312141:p.Met413Val					CGGBP1_ENST00000462901.1_Intron	p.M413V	NM_018293.2	NP_060763.2	Q8IZM8	ZN654_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)	1	1444	+		Lung NSC(201;0.0283)	413					Q9H791|Q9NV14	Missense_Mutation	SNP	ENST00000309495.5	37	c.1237A>G	CCDS46874.1	.	.	.	.	.	.	.	.	.	.	A	3.262	-0.150941	0.06585	.	.	ENSG00000175105	ENST00000309495	T	0.09073	3.02	5.44	2.91	0.33838	.	.	.	.	.	T	0.07863	0.0197	L	0.44542	1.39	0.26244	N	0.978827	B	0.20887	0.049	B	0.22386	0.039	T	0.42085	-0.9472	9	0.13108	T	0.6	.	9.8667	0.41148	0.7271:0.0:0.0:0.2729	.	413	Q8IZM8	ZN654_HUMAN	V	413	ENSP00000312141:M413V	ENSP00000312141:M413V	M	+	1	0	ZNF654	88272387	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.734000	0.47368	0.294000	0.22547	0.482000	0.46254	ATG		0.343	ZNF654-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353285.2	NM_018293		21	39	0	0	0	1	0	21	39				
PRRC2A	7916	broad.mit.edu	37	6	31599818	31599818	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr6:31599818A>C	ENST00000376033.2	+	16	3602	c.3368A>C	c.(3367-3369)gAg>gCg	p.E1123A	PRRC2A_ENST00000376007.4_Missense_Mutation_p.E1123A	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1123	4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						TCAGACAAGGAGGCTCCCACA	0.647																																						ENST00000376033.2																			0				breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						c.(3367-3369)gAg>gCg		proline-rich coiled-coil 2A							44.0	57.0	52.0					6																	31599818		1509	2709	4218	SO:0001583	missense	7916					cytoplasm|nucleus	protein binding	g.chr6:31599818A>C	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"""HLA-B associated transcript 2"""	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.3368A>C	6.37:g.31599818A>C	ENSP00000365201:p.Glu1123Ala					PRRC2A_ENST00000376007.4_Missense_Mutation_p.E1123A	p.E1123A	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN			16	3602	+			1123			4 X 57 AA type A repeats.		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	ENST00000376033.2	37	c.3368A>C	CCDS4708.1	.	.	.	.	.	.	.	.	.	.	A	12.13	1.845335	0.32606	.	.	ENSG00000204469	ENST00000376007;ENST00000376033;ENST00000376010	T;T	0.01998	4.51;4.51	5.29	5.29	0.74685	.	0.000000	0.56097	D	0.000022	T	0.04137	0.0115	L	0.42245	1.32	0.58432	D	0.99999	D	0.76494	0.999	D	0.63793	0.918	T	0.45293	-0.9271	10	0.87932	D	0	-18.0605	14.3437	0.66646	1.0:0.0:0.0:0.0	.	1123	P48634	PRC2A_HUMAN	A	1123;1123;348	ENSP00000365175:E1123A;ENSP00000365201:E1123A	ENSP00000365175:E1123A	E	+	2	0	PRRC2A	31707797	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	4.582000	0.60957	2.228000	0.72767	0.533000	0.62120	GAG		0.647	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		8	28	0	0	0	1	0	8	28				
BRD8	10902	broad.mit.edu	37	5	137480910	137480910	+	Silent	SNP	A	A	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr5:137480910A>G	ENST00000254900.5	-	25	3764	c.3393T>C	c.(3391-3393)ccT>ccC	p.P1131P		NM_139199.1	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	1131	Bromo 2. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cell surface receptor signaling pathway (GO:0007166)|chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|intracellular receptor signaling pathway (GO:0030522)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TTTCTGACACAGGCTTCAGAA	0.463																																						ENST00000254900.5																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35						c.(3391-3393)ccT>ccC		bromodomain containing 8							170.0	155.0	160.0					5																	137480910		2203	4300	6503	SO:0001819	synonymous_variant	10902				cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity	g.chr5:137480910A>G	AF016270	CCDS4198.1, CCDS34241.1, CCDS54907.1	5q31	2008-02-05			ENSG00000112983	ENSG00000112983			19874	protein-coding gene	gene with protein product		602848				8611617, 9368056	Standard	NM_001164326		Approved	SMAP, p120	uc003lcf.1	Q9H0E9	OTTHUMG00000129204	ENST00000254900.5:c.3393T>C	5.37:g.137480910A>G							p.P1131P	NM_139199.1	NP_631938.1	Q9H0E9	BRD8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		25	3764	-			1131			Bromo 2.		O43178|Q15355|Q58AB0|Q59GN0|Q969M9	Silent	SNP	ENST00000254900.5	37	c.3393T>C	CCDS4198.1																																																																																				0.463	BRD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251282.3	NM_006696		4	232	0	0	0	1	0	4	232				
MLX	6945	broad.mit.edu	37	17	40722038	40722038	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr17:40722038C>A	ENST00000246912.4	+	7	730	c.677C>A	c.(676-678)cCc>cAc	p.P226H	MLX_ENST00000346833.4_Missense_Mutation_p.P142H|MLX_ENST00000435881.2_Missense_Mutation_p.P172H	NM_170607.2	NP_733752.1	Q9UH92	MLX_HUMAN	MLX, MAX dimerization protein	226					energy reserve metabolic process (GO:0006112)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|positive regulation of cellular metabolic process (GO:0031325)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			kidney(3)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	10		all_cancers(22;4.26e-05)|Breast(137;0.000153)|all_epithelial(22;0.00148)		BRCA - Breast invasive adenocarcinoma(366;0.129)		CAGGACAACCCCCATGAAGGG	0.542																																					GBM(121;657 1601 4665 24731 34640)	ENST00000246912.4																			0				kidney(3)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	10						c.(676-678)cCc>cAc		MLX, MAX dimerization protein							121.0	103.0	109.0					17																	40722038		2203	4300	6503	SO:0001583	missense	6945				energy reserve metabolic process|negative regulation of transcription, DNA-dependent|positive regulation of cellular metabolic process	cytoplasm|nucleus	DNA binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr17:40722038C>A	AF213668	CCDS11430.1, CCDS42341.1, CCDS45687.1	17q21.1	2013-05-21	2012-11-15	2005-02-11		ENSG00000108788		"""MAX dimerization proteins"", ""Basic helix-loop-helix proteins"""	11645	protein-coding gene	gene with protein product		602976	"""transcription factor-like 4"", ""MAX-like protein X"""	TCFL4		8973301	Standard	NM_170607		Approved	MAD7, MXD7, bHLHd13	uc002iag.3	Q9UH92		ENST00000246912.4:c.677C>A	17.37:g.40722038C>A	ENSP00000246912:p.Pro226His					MLX_ENST00000346833.4_Missense_Mutation_p.P142H|MLX_ENST00000435881.2_Missense_Mutation_p.P172H	p.P226H	NM_170607.2	NP_733752.1	Q9UH92	MLX_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.129)	7	730	+		all_cancers(22;4.26e-05)|Breast(137;0.000153)|all_epithelial(22;0.00148)	226					A8K2J3|B2RAV8|B2RD73|Q53XM6|Q96FL2|Q9H2V0|Q9H2V1|Q9H2V2|Q9NXN3	Missense_Mutation	SNP	ENST00000246912.4	37	c.677C>A	CCDS11430.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.245346	0.80024	.	.	ENSG00000108788	ENST00000346833;ENST00000246912;ENST00000435881	T;T;T	0.80653	-1.06;-1.4;-1.1	5.72	4.75	0.60458	.	0.048609	0.85682	D	0.000000	D	0.87676	0.6237	M	0.75085	2.285	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.998	D;P;D	0.70935	0.971;0.848;0.959	D	0.88131	0.2838	10	0.62326	D	0.03	-10.238	10.7068	0.45960	0.0:0.855:0.0:0.145	.	142;226;172	Q9UH92-2;Q9UH92;Q9UH92-3	.;MLX_HUMAN;.	H	142;226;172	ENSP00000320913:P142H;ENSP00000246912:P226H;ENSP00000416627:P172H	ENSP00000246912:P226H	P	+	2	0	MLX	37975564	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.969000	0.63735	1.428000	0.47296	0.561000	0.74099	CCC		0.542	MLX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450415.1	NM_170607		86	333	1	0	5.84261e-33	1	7.20771e-33	86	333				
MPHOSPH10	10199	broad.mit.edu	37	2	71368393	71368393	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr2:71368393C>G	ENST00000244230.2	+	7	1692	c.1340C>G	c.(1339-1341)cCt>cGt	p.P447R		NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN	M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)	447					negative regulation of phosphatase activity (GO:0010923)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|rRNA processing (GO:0006364)	chromosome (GO:0005694)|nucleolus (GO:0005730)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						AAAGAAAAACCTAAAGAGGAT	0.338																																						ENST00000244230.2																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						c.(1339-1341)cCt>cGt		M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)							145.0	156.0	152.0					2																	71368393		2203	4300	6503	SO:0001583	missense	10199				RNA splicing, via transesterification reactions|rRNA processing	chromosome|nucleolus|small nucleolar ribonucleoprotein complex	protein binding	g.chr2:71368393C>G	X98494	CCDS1916.1	2p13.3	2014-06-12			ENSG00000124383	ENSG00000124383			7213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 106"""	605503				8885239, 9450966	Standard	NM_005791		Approved	MPP10, MPP10P, CT90, PPP1R106	uc002sht.2	O00566	OTTHUMG00000129715	ENST00000244230.2:c.1340C>G	2.37:g.71368393C>G	ENSP00000244230:p.Pro447Arg						p.P447R	NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN			7	1692	+			447					A0AVJ8	Missense_Mutation	SNP	ENST00000244230.2	37	c.1340C>G	CCDS1916.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.415852	0.83449	.	.	ENSG00000124383	ENST00000244230;ENST00000425650	T;T	0.10573	2.86;2.86	5.52	5.52	0.82312	.	0.106900	0.64402	D	0.000004	T	0.40839	0.1133	M	0.91038	3.17	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.38520	-0.9657	10	0.20046	T	0.44	.	17.3088	0.87202	0.0:1.0:0.0:0.0	.	447	O00566	MPP10_HUMAN	R	447;307	ENSP00000244230:P447R;ENSP00000393034:P307R	ENSP00000244230:P447R	P	+	2	0	MPHOSPH10	71221901	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	7.021000	0.76425	2.769000	0.95229	0.491000	0.48974	CCT		0.338	MPHOSPH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251924.2	NM_005791		54	100	0	0	0	1	0	54	100				
NUP210L	91181	broad.mit.edu	37	1	154027278	154027278	+	Nonsense_Mutation	SNP	T	T	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr1:154027278T>A	ENST00000368559.3	-	24	3342	c.3271A>T	c.(3271-3273)Aaa>Taa	p.K1091*	NUP210L_ENST00000368553.1_Nonsense_Mutation_p.K24*|NUP210L_ENST00000271854.3_Nonsense_Mutation_p.K1091*	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1091					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			AGTGTCATTTTCTCTGGAAGA	0.368																																						ENST00000368559.3																			0				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80						c.(3271-3273)Aaa>Taa		nucleoporin 210kDa-like							107.0	102.0	104.0					1																	154027278		1861	4107	5968	SO:0001587	stop_gained	91181					integral to membrane		g.chr1:154027278T>A	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.3271A>T	1.37:g.154027278T>A	ENSP00000357547:p.Lys1091*					NUP210L_ENST00000271854.3_Nonsense_Mutation_p.K1091*|NUP210L_ENST00000368553.1_Nonsense_Mutation_p.K24*	p.K1091*	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		24	3342	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		1091					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Nonsense_Mutation	SNP	ENST00000368559.3	37	c.3271A>T	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	T	28.2	4.897836	0.91962	.	.	ENSG00000143552	ENST00000368559;ENST00000368553;ENST00000271854	.	.	.	4.83	4.83	0.62350	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.7368	12.7933	0.57547	0.0:0.0:0.0:1.0	.	.	.	.	X	1091;24;1091	.	ENSP00000271854:K1091X	K	-	1	0	NUP210L	152293902	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.873000	0.63057	2.035000	0.60131	0.528000	0.53228	AAA		0.368	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		22	43	0	0	0	1	0	22	43				
LAD1	3898	broad.mit.edu	37	1	201354881	201354881	+	Missense_Mutation	SNP	C	C	A	rs143101113		TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr1:201354881C>A	ENST00000391967.2	-	4	1380	c.1079G>T	c.(1078-1080)cGa>cTa	p.R360L	LAD1_ENST00000367313.3_Missense_Mutation_p.R374L|LAD1_ENST00000488842.1_5'Flank	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	360						basement membrane (GO:0005604)	structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						GCTGTAGGTTCGCTGTGTGGG	0.597											OREG0014078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000391967.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						c.(1078-1080)cGa>cTa		ladinin 1							248.0	208.0	221.0					1																	201354881		2203	4300	6503	SO:0001583	missense	3898					basement membrane	structural molecule activity	g.chr1:201354881C>A	U42408	CCDS1410.1	1q25.1-q32.3	2008-02-05			ENSG00000159166	ENSG00000159166			6472	protein-coding gene	gene with protein product		602314				8618013, 9119369	Standard	NM_005558		Approved		uc001gwm.3	O00515	OTTHUMG00000035737	ENST00000391967.2:c.1079G>T	1.37:g.201354881C>A	ENSP00000375829:p.Arg360Leu		OREG0014078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2121	LAD1_ENST00000367313.3_Missense_Mutation_p.R374L	p.R360L	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN			4	1380	-			360					O95614|Q96GD8	Missense_Mutation	SNP	ENST00000391967.2	37	c.1079G>T	CCDS1410.1	.	.	.	.	.	.	.	.	.	.	C	9.158	1.017914	0.19355	.	.	ENSG00000159166	ENST00000503578;ENST00000391967;ENST00000367313	T;T;T	0.41065	1.01;2.79;2.79	5.46	1.86	0.25419	.	2.236220	0.01801	N	0.032900	T	0.24275	0.0588	N	0.08118	0	0.25256	N	0.989636	B;B	0.10296	0.003;0.0	B;B	0.09377	0.004;0.001	T	0.15065	-1.0450	10	0.27082	T	0.32	-1.9959	4.989	0.14205	0.2853:0.5566:0.1581:0.0	.	374;360	E9PDI4;O00515	.;LAD1_HUMAN	L	11;360;374	ENSP00000422687:R11L;ENSP00000375829:R360L;ENSP00000356282:R374L	ENSP00000356282:R374L	R	-	2	0	LAD1	199621504	0.050000	0.20438	0.696000	0.30242	0.785000	0.44390	0.120000	0.15647	0.477000	0.27464	0.591000	0.81541	CGA		0.597	LAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086946.1	NM_005558		8	46	1	0	9.70103e-10	1	1.1748e-09	8	46				
HPS5	11234	broad.mit.edu	37	11	18318399	18318399	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr11:18318399A>G	ENST00000349215.3	-	12	1733	c.1456T>C	c.(1456-1458)Tca>Cca	p.S486P	HPS5_ENST00000396253.3_Missense_Mutation_p.S372P|HPS5_ENST00000438420.2_Missense_Mutation_p.S372P|HPS5_ENST00000352460.3_5'Flank|HPS5_ENST00000531848.1_Missense_Mutation_p.S372P	NM_181507.1	NP_852608.1	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	486					blood coagulation (GO:0007596)|organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TCCTGCTGTGAGGTGAATTCT	0.448									Hermansky-Pudlak syndrome																													ENST00000396253.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(1114-1116)Tca>Cca		Hermansky-Pudlak syndrome 5							209.0	193.0	199.0					11																	18318399		2199	4293	6492	SO:0001583	missense	11234	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8		cytosol		g.chr11:18318399A>G	AB023234	CCDS7836.1, CCDS7837.1	11p14	2014-06-18			ENSG00000110756	ENSG00000110756			17022	protein-coding gene	gene with protein product		607521				10231032, 10094488	Standard	NM_181507		Approved		uc001mod.1	Q9UPZ3	OTTHUMG00000166612	ENST00000349215.3:c.1456T>C	11.37:g.18318399A>G	ENSP00000265967:p.Ser486Pro					HPS5_ENST00000531848.1_Missense_Mutation_p.S372P|HPS5_ENST00000349215.3_Missense_Mutation_p.S486P|HPS5_ENST00000438420.2_Missense_Mutation_p.S372P	p.S372P	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN			11	1576	-			486					A8K6J8|A8K8S1|D3DQX9|D3DQY0|O95942|Q8N4U0	Missense_Mutation	SNP	ENST00000349215.3	37	c.1114T>C	CCDS7836.1	.	.	.	.	.	.	.	.	.	.	A	10.44	1.350122	0.24512	.	.	ENSG00000110756	ENST00000396253;ENST00000438420;ENST00000349215;ENST00000531848	T;T;T;T	0.56444	0.46;0.46;0.46;1.46	5.71	4.52	0.55395	.	0.637256	0.17082	N	0.187750	T	0.38772	0.1053	L	0.36672	1.1	0.09310	N	0.999999	P	0.37708	0.606	B	0.34824	0.19	T	0.21930	-1.0231	10	0.30854	T	0.27	.	9.0548	0.36399	0.7321:0.164:0.0:0.1039	.	486	Q9UPZ3	HPS5_HUMAN	P	372;372;486;372	ENSP00000379552:S372P;ENSP00000399590:S372P;ENSP00000265967:S486P;ENSP00000431758:S372P	ENSP00000265967:S486P	S	-	1	0	HPS5	18274975	0.984000	0.35163	0.903000	0.35520	0.886000	0.51366	2.537000	0.45702	2.182000	0.69389	0.460000	0.39030	TCA		0.448	HPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390808.1	NM_181507		6	489	0	0	0	1	0	6	489				
ADCY8	114	broad.mit.edu	37	8	131896886	131896886	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr8:131896886C>T	ENST00000286355.5	-	8	4125	c.2033G>A	c.(2032-2034)cGg>cAg	p.R678Q	ADCY8_ENST00000377928.3_Missense_Mutation_p.R678Q	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	678					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			ATCGCCACTCCGCAAGTCGAT	0.458										HNSCC(32;0.087)																												ENST00000286355.5																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(2032-2034)cGg>cAg		adenylate cyclase 8 (brain)							140.0	133.0	135.0					8																	131896886		2203	4300	6503	SO:0001583	missense	114				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:131896886C>T	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.2033G>A	8.37:g.131896886C>T	ENSP00000286355:p.Arg678Gln	HNSCC(32;0.087)				ADCY8_ENST00000377928.3_Missense_Mutation_p.R678Q	p.R678Q	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		8	4125	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		678						Missense_Mutation	SNP	ENST00000286355.5	37	c.2033G>A	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.793944	0.90453	.	.	ENSG00000155897	ENST00000286355;ENST00000377928	T;T	0.78707	-1.2;-1.2	5.98	5.98	0.97165	.	0.054567	0.85682	D	0.000000	D	0.87301	0.6143	M	0.68952	2.095	0.54753	D	0.999983	D;P	0.71674	0.998;0.836	D;B	0.79108	0.992;0.106	D	0.84783	0.0774	10	0.37606	T	0.19	.	19.5094	0.95135	0.0:1.0:0.0:0.0	.	678;678	E7EVL1;P40145	.;ADCY8_HUMAN	Q	678	ENSP00000286355:R678Q;ENSP00000367161:R678Q	ENSP00000286355:R678Q	R	-	2	0	ADCY8	131966068	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.319000	0.79040	2.861000	0.98227	0.650000	0.86243	CGG		0.458	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			20	53	0	0	0	1	0	20	53				
KIF18B	146909	broad.mit.edu	37	17	43009011	43009011	+	Silent	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr17:43009011G>A	ENST00000593135.1	-	11	1573	c.1476C>T	c.(1474-1476)ggC>ggT	p.G492G	KIF18B_ENST00000339151.4_Silent_p.G504G|KIF18B_ENST00000590129.1_Silent_p.G513G|KIF18B_ENST00000438933.2_Silent_p.G504G|KIF18B_ENST00000587309.1_Silent_p.G504G	NM_001265577.1	NP_001252506.1	Q86Y91	KI18B_HUMAN	kinesin family member 18B	513					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|regulation of cell division (GO:0051302)	astral microtubule (GO:0000235)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule plus-end (GO:0035371)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				CTGAGAAGTGGCCCACGACTG	0.572																																						ENST00000587309.1																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21						c.(1510-1512)ggC>ggT		kinesin family member 18B							95.0	100.0	99.0					17																	43009011		2006	4179	6185	SO:0001819	synonymous_variant	146909							g.chr17:43009011G>A		CCDS45709.1, CCDS58555.1, CCDS45709.2	17q21.31	2014-09-04			ENSG00000186185			"""Kinesins"""	27102	protein-coding gene	gene with protein product		614570				16084724	Standard	NM_001264573		Approved		uc010wjh.3	Q86Y91	OTTHUMG00000179867	ENST00000593135.1:c.1476C>T	17.37:g.43009011G>A						KIF18B_ENST00000593135.1_Silent_p.G492G|KIF18B_ENST00000590129.1_Silent_p.G513G|KIF18B_ENST00000438933.2_Silent_p.G504G|KIF18B_ENST00000339151.4_Silent_p.G504G	p.G504G	NM_001264573.1	NP_001251503.1					11	1535	-		Prostate(33;0.155)						A6NJI2|B7ZM49|B9EGM8|D5L6I1	Silent	SNP	ENST00000593135.1	37	c.1512C>T	CCDS45709.2																																																																																				0.572	KIF18B-001	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000448724.1	NM_001080443		3	49	0	0	0	1	0	3	49				
THOC5	8563	broad.mit.edu	37	22	29924416	29924416	+	Splice_Site	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr22:29924416G>A	ENST00000490103.1	-	10	1087	c.965C>T	c.(964-966)aCg>aTg	p.T322M	THOC5_ENST00000397873.2_Splice_Site_p.T322M|THOC5_ENST00000397871.1_Splice_Site_p.T322M|THOC5_ENST00000397872.1_Splice_Site_p.T322M|CTA-256D12.11_ENST00000411969.1_RNA	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5	322					blastocyst development (GO:0001824)|cell morphogenesis (GO:0000902)|monocyte differentiation (GO:0030224)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of macrophage differentiation (GO:0045650)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|primitive hemopoiesis (GO:0060215)|regulation of mRNA export from nucleus (GO:0010793)|regulation of stem cell division (GO:2000035)|RNA splicing (GO:0008380)|stem cell division (GO:0017145)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	mRNA binding (GO:0003729)			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GGTTCTCACCGTAGTCTGCTC	0.567																																						ENST00000490103.1																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.e10+1		THO complex 5							150.0	132.0	138.0					22																	29924416		2203	4300	6503	SO:0001630	splice_region_variant	8563				intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding	g.chr22:29924416G>A	AB023200	CCDS13859.1	22q12	2013-02-11			ENSG00000100296	ENSG00000100296		"""THO complex subunits"""	19074	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 79"""	612733	"""chromosome 22 open reading frame 19"""	C22orf19		11979277, 8242058, 10231032, 19015024, 18373705	Standard	NM_003678		Approved	PK1.3, KIAA0983, Fmip, fSAP79	uc003afs.3	Q13769	OTTHUMG00000151291	ENST00000490103.1:c.966+1C>T	22.37:g.29924416G>A						THOC5_ENST00000397871.1_Splice_Site_p.T322_splice|THOC5_ENST00000397872.1_Splice_Site_p.T322_splice|THOC5_ENST00000397873.2_Splice_Site_p.T322_splice|CTA-256D12.11_ENST00000411969.1_RNA	p.T322_splice	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN			10	1087	-			322					O60839|Q9UPZ5	Splice_Site	SNP	ENST00000490103.1	37	c.966_splice	CCDS13859.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.655702	0.88056	.	.	ENSG00000100296	ENST00000490103;ENST00000397872;ENST00000397871;ENST00000397873	T;T;T;T	0.25250	1.81;1.81;1.81;1.81	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.48857	0.1523	M	0.62723	1.935	0.80722	D	1	D	0.76494	0.999	D	0.68621	0.959	T	0.40590	-0.9555	10	0.46703	T	0.11	-11.5754	18.5692	0.91129	0.0:0.0:1.0:0.0	.	322	Q13769	THOC5_HUMAN	M	322	ENSP00000420306:T322M;ENSP00000380970:T322M;ENSP00000380969:T322M;ENSP00000380971:T322M	ENSP00000380969:T322M	T	-	2	0	THOC5	28254416	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	8.080000	0.89510	2.622000	0.88805	0.563000	0.77884	ACG		0.567	THOC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322097.1	NM_003678	Missense_Mutation	5	120	0	0	0	1	0	5	120				
C1QBP	708	broad.mit.edu	37	17	5335874	5335874	+	IGR	SNP	T	T	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr17:5335874T>C	ENST00000225698.4	-	0	1169				CTC-524C5.2_ENST00000575890.1_RNA|RPAIN_ENST00000327154.6_Silent_p.L146L|RPAIN_ENST00000381208.5_Missense_Mutation_p.W168R|RPAIN_ENST00000536255.2_3'UTR|RPAIN_ENST00000381209.3_Missense_Mutation_p.W215R	NM_001212.3	NP_001203.1	Q07021	C1QBP_HUMAN	complement component 1, q subcomponent binding protein						apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)|mature ribosome assembly (GO:0042256)|mRNA processing (GO:0006397)|negative regulation of defense response to virus (GO:0050687)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of MDA-5 signaling pathway (GO:0039534)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of mitochondrial translation (GO:0070131)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of trophoblast cell migration (GO:1901165)|regulation of complement activation (GO:0030449)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	adrenergic receptor binding (GO:0031690)|complement component C1q binding (GO:0001849)|hyaluronic acid binding (GO:0005540)|kininogen binding (GO:0030984)|mitochondrial ribosome binding (GO:0097177)|mRNA binding (GO:0003729)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			lung(2)|ovary(1)	3					Hyaluronan(DB08818)	CTGTGATACTTGGGCTGTGAT	0.378																																						ENST00000381209.3																			0				breast(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)	6						c.(643-645)Tgg>Cgg		RPA interacting protein							144.0	138.0	140.0					17																	5335874		2203	4300	6503	SO:0001628	intergenic_variant	84268				DNA recombination|DNA repair|DNA-dependent DNA replication|protein import into nucleus|response to UV	cytoplasm|nucleolus|PML body	metal ion binding|protein complex binding	g.chr17:5335874T>C	X75913	CCDS11071.1	17p13.3	2009-05-07				ENSG00000108561			1243	protein-coding gene	gene with protein product	"""C1q globular domain-binding protein"", ""hyaluronan-binding protein 1"", ""splicing factor SF2-associated protein"""	601269		HABP1		8567680, 8195709	Standard	NM_001212		Approved	gC1Q-R, gC1qR, p32, SF2p32	uc002gby.1	Q07021			17.37:g.5335874T>C						RPAIN_ENST00000536255.2_3'UTR|RPAIN_ENST00000381208.5_Missense_Mutation_p.W168R|CTC-524C5.2_ENST00000575890.1_RNA|RPAIN_ENST00000327154.6_Silent_p.L146L	p.W215R	NM_001033002.3	NP_001028174.2	Q86UA6	RIP_HUMAN			7	1213	+			215					Q2HXR8|Q9NNY8	Missense_Mutation	SNP	ENST00000225698.4	37	c.643T>C	CCDS11071.1	.	.	.	.	.	.	.	.	.	.	T	13.80	2.344545	0.41498	.	.	ENSG00000129197	ENST00000381209;ENST00000381208	T;T	0.43688	0.94;0.94	4.45	3.37	0.38596	.	0.191948	0.46758	N	0.000262	T	0.40145	0.1105	M	0.71581	2.175	0.80722	D	1	B;B	0.27498	0.033;0.18	B;B	0.29176	0.04;0.099	T	0.38156	-0.9674	10	0.62326	D	0.03	.	6.8161	0.23831	0.0:0.1035:0.0:0.8965	.	168;215	E9PDG9;Q86UA6	.;RIP_HUMAN	R	215;168	ENSP00000370606:W215R;ENSP00000370605:W168R	ENSP00000370605:W168R	W	+	1	0	RPAIN	5276598	0.971000	0.33674	0.864000	0.33941	0.817000	0.46193	1.976000	0.40579	1.035000	0.39972	0.533000	0.62120	TGG		0.378	C1QBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439388.1	NM_001212		3	282	0	0	0	1	0	3	282				
AGBL4	84871	broad.mit.edu	37	1	49119017	49119017	+	Silent	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr1:49119017G>A	ENST00000371839.1	-	8	947	c.831C>T	c.(829-831)ggC>ggT	p.G277G	AGBL4_ENST00000334103.7_Silent_p.G10G|AGBL4_ENST00000371838.1_Silent_p.G277G	NM_032785.3	NP_116174.3	Q5VU57	CBPC6_HUMAN	ATP/GTP binding protein-like 4	277					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytosol (GO:0005829)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15				Colorectal(2;0.00349)|COAD - Colon adenocarcinoma(2;0.0037)		ACCTGTAATTGCCCAGGTAGA	0.443																																						ENST00000371839.1																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15						c.(829-831)ggC>ggT		ATP/GTP binding protein-like 4							47.0	44.0	45.0					1																	49119017		1878	4105	5983	SO:0001819	synonymous_variant	84871				C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr1:49119017G>A	AK027348	CCDS44137.1	1p33	2014-06-23			ENSG00000186094	ENSG00000186094			25892	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 6"""					21074048	Standard	NM_032785		Approved	FLJ14442, CCP6	uc001cru.2	Q5VU57	OTTHUMG00000007793	ENST00000371839.1:c.831C>T	1.37:g.49119017G>A						AGBL4_ENST00000371838.1_Silent_p.G277G|AGBL4_ENST00000334103.7_Silent_p.G10G	p.G277G	NM_032785.3	NP_116174.3	Q5VU57	CBPC6_HUMAN		Colorectal(2;0.00349)|COAD - Colon adenocarcinoma(2;0.0037)	8	947	-			277					B3KT26|B4DG37	Silent	SNP	ENST00000371839.1	37	c.831C>T	CCDS44137.1	.	.	.	.	.	.	.	.	.	.	G	9.579	1.122955	0.20959	.	.	ENSG00000186094	ENST00000416121;ENST00000432500	.	.	.	5.84	2.59	0.31030	.	.	.	.	.	T	0.59004	0.2162	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54510	-0.8283	4	.	.	.	-25.4636	9.9546	0.41660	0.0:0.1022:0.5163:0.3814	.	.	.	.	V	123;66	.	.	A	-	2	0	AGBL4	48891604	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	0.423000	0.21313	0.787000	0.33731	-0.176000	0.13171	GCA		0.443	AGBL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021346.4	NM_032785		7	38	0	0	0	1	0	7	38				
ZNF615	284370	broad.mit.edu	37	19	52496685	52496685	+	Silent	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr19:52496685G>A	ENST00000602063.1	-	6	1993	c.1644C>T	c.(1642-1644)ggC>ggT	p.G548G	ZNF615_ENST00000594083.1_Silent_p.G559G|ZNF615_ENST00000598071.1_Silent_p.G559G|ZNF615_ENST00000376716.5_Silent_p.G548G|ZNF615_ENST00000391795.3_Silent_p.G553G			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	548					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)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TCTCAGTGAAGCCTTTTCCAC	0.448																																						ENST00000602063.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42						c.(1642-1644)ggC>ggT		zinc finger protein 615							118.0	103.0	108.0					19																	52496685		2203	4300	6503	SO:0001819	synonymous_variant	284370				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52496685G>A	AK096691	CCDS12846.1, CCDS59418.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	24740	protein-coding gene	gene with protein product						12477932	Standard	NM_001199324		Approved	FLJ33710	uc002pyf.2	Q8N8J6		ENST00000602063.1:c.1644C>T	19.37:g.52496685G>A						ZNF615_ENST00000391795.3_Silent_p.G553G|ZNF615_ENST00000376716.5_Silent_p.G548G|ZNF615_ENST00000598071.1_Silent_p.G559G|ZNF615_ENST00000594083.1_Silent_p.G559G	p.G548G			Q8N8J6	ZN615_HUMAN		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)	6	1993	-		all_neural(266;0.117)	548					B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Silent	SNP	ENST00000602063.1	37	c.1644C>T	CCDS12846.1																																																																																				0.448	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462391.1	NM_198480		31	70	0	0	0	1	0	31	70				
DLGAP1	9229	broad.mit.edu	37	18	3502638	3502638	+	Silent	SNP	A	A	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr18:3502638A>G	ENST00000315677.3	-	12	3172	c.2577T>C	c.(2575-2577)ccT>ccC	p.P859P	DLGAP1_ENST00000584874.1_Silent_p.P859P|DLGAP1_ENST00000400155.1_Silent_p.P565P|DLGAP1_ENST00000400149.3_Silent_p.P549P|DLGAP1_ENST00000539435.1_Silent_p.P567P|DLGAP1_ENST00000581527.1_Silent_p.P859P|DLGAP1_ENST00000534970.1_Silent_p.P543P|DLGAP1_ENST00000515196.2_Silent_p.P859P|DLGAP1_ENST00000400150.3_Silent_p.P575P|DLGAP1_ENST00000400147.2_Silent_p.P557P|DLGAP1_ENST00000581699.1_Silent_p.P565P|DLGAP1_ENST00000400145.2_Silent_p.P557P	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	859					synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				GATGAGCATTAGGATTCTGCA	0.388																																						ENST00000315677.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56						c.(2575-2577)ccT>ccC		discs, large (Drosophila) homolog-associated protein 1							67.0	74.0	71.0					18																	3502638		2203	4300	6503	SO:0001819	synonymous_variant	9229				synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane		g.chr18:3502638A>G	AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"""discs, large (Drosophila) homolog-associated protein 1"""			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.2577T>C	18.37:g.3502638A>G						DLGAP1_ENST00000581527.1_Silent_p.P859P|DLGAP1_ENST00000400145.2_Silent_p.P557P|DLGAP1_ENST00000584874.1_Silent_p.P859P|DLGAP1_ENST00000539435.1_Silent_p.P567P|DLGAP1_ENST00000581699.1_Silent_p.P565P|DLGAP1_ENST00000400149.3_Silent_p.P549P|DLGAP1_ENST00000515196.2_Silent_p.P859P|DLGAP1_ENST00000400150.3_Silent_p.P575P|DLGAP1_ENST00000534970.1_Silent_p.P543P|DLGAP1_ENST00000400147.2_Silent_p.P557P|DLGAP1_ENST00000400155.1_Silent_p.P565P	p.P859P	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN			12	3172	-		Colorectal(8;0.0257)	859					A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Silent	SNP	ENST00000315677.3	37	c.2577T>C	CCDS11836.1																																																																																				0.388	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254394.4			14	31	0	0	0	1	0	14	31				
ZNF551	90233	broad.mit.edu	37	19	58198816	58198816	+	Silent	SNP	T	T	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr19:58198816T>C	ENST00000282296.5	+	3	1358	c.1173T>C	c.(1171-1173)taT>taC	p.Y391Y	AC003006.7_ENST00000599221.1_Intron|ZNF551_ENST00000596085.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF551_ENST00000356715.4_Silent_p.Y375Y			Q7Z340	ZN551_HUMAN	zinc finger protein 551	391					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AAAGGCCTTATCAGTGCTGTG	0.448																																						ENST00000282296.5																			0				endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15						c.(1171-1173)taT>taC		zinc finger protein 551							86.0	89.0	88.0					19																	58198816		2203	4300	6503	SO:0001819	synonymous_variant	90233				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58198816T>C	BX538151	CCDS12959.1, CCDS12959.2	19q13.43	2013-09-20			ENSG00000204519	ENSG00000204519		"""Zinc fingers, C2H2-type"", ""-"""	25108	protein-coding gene	gene with protein product							Standard	NM_138347		Approved	DKFZp686H1038	uc002qpw.5	Q7Z340	OTTHUMG00000183470	ENST00000282296.5:c.1173T>C	19.37:g.58198816T>C						ZNF551_ENST00000356715.4_Silent_p.Y375Y|AC003006.7_ENST00000596085.1_Intron|AC003006.7_ENST00000599221.1_Intron	p.Y391Y	NM_001270938.1	NP_001257867.1	Q7Z340	ZN551_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	3	1358	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	391					B4DU22|P17034|Q8N246|Q9BRY1	Silent	SNP	ENST00000282296.5	37	c.1173T>C	CCDS12959.2	.	.	.	.	.	.	.	.	.	.	T	14.25	2.478146	0.44044	.	.	ENSG00000228006	ENST00000541705	.	.	.	2.75	2.75	0.32379	.	0.309864	0.20416	U	0.092765	T	0.16727	0.0402	.	.	.	0.09310	N	0.999995	.	.	.	.	.	.	T	0.20009	-1.0288	6	0.10636	T	0.68	.	5.6207	0.17455	0.0:0.1346:0.0:0.8653	.	.	.	.	V	197	.	ENSP00000437781:I197V	I	-	1	0	AC004017.1	62890628	0.000000	0.05858	0.028000	0.17463	0.201000	0.24016	-0.911000	0.04050	1.262000	0.44165	0.459000	0.35465	ATA		0.448	ZNF551-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466803.2	NM_138347		28	51	0	0	0	1	0	28	51				
CHRM2	1129	broad.mit.edu	37	7	136699840	136699840	+	Silent	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr7:136699840C>T	ENST00000445907.2	+	3	756	c.228C>T	c.(226-228)tcC>tcT	p.S76S	hsa-mir-490_ENST00000425981.2_RNA|hsa-mir-490_ENST00000586239.1_RNA|CHRM2_ENST00000397608.3_Silent_p.S76S|hsa-mir-490_ENST00000593789.1_RNA|CHRM2_ENST00000401861.1_Silent_p.S76S|CHRM2_ENST00000453373.1_Silent_p.S76S|hsa-mir-490_ENST00000439694.1_RNA|hsa-mir-490_ENST00000598184.1_RNA|hsa-mir-490_ENST00000597642.1_RNA|hsa-mir-490_ENST00000592183.1_RNA|CHRM2_ENST00000320658.5_Silent_p.S76S|CHRM2_ENST00000402486.3_Silent_p.S76S	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	76					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	GTGTTTTCTCCATGAACTTGT	0.473																																						ENST00000445907.2																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68						c.(226-228)tcC>tcT		cholinergic receptor, muscarinic 2	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)						224.0	197.0	206.0					7																	136699840		2203	4300	6503	SO:0001819	synonymous_variant	1129				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding	g.chr7:136699840C>T		CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1951	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 2"""	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.228C>T	7.37:g.136699840C>T						CHRM2_ENST00000320658.5_Silent_p.S76S|CHRM2_ENST00000453373.1_Silent_p.S76S|AC009264.1_ENST00000597642.1_RNA|AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000439694.1_RNA|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000586239.1_RNA|CHRM2_ENST00000402486.3_Silent_p.S76S|CHRM2_ENST00000401861.1_Silent_p.S76S|CHRM2_ENST00000397608.3_Silent_p.S76S	p.S76S	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN			3	756	+			76					Q4VBK6|Q9P1X9	Silent	SNP	ENST00000445907.2	37	c.228C>T	CCDS5843.1																																																																																				0.473	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341010.1			3	148	0	0	0	1	0	3	148				
TUBB8P7	197331	broad.mit.edu	37	16	90162092	90162092	+	RNA	SNP	G	G	A	rs200768438	byFrequency	TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr16:90162092G>A	ENST00000564451.1	+	0	1445				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.R275Q(1)									CTGACCAGCCGGGGCAGCCAG	0.622																																						ENST00000564451.1																			1	Substitution - Missense(1)	p.R275Q(1)	endometrium(1)																																																197331							g.chr16:90162092G>A			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162092G>A						TUBB8P7_ENST00000567960.1_RNA								0	1445	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.622	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		11	6	0	0	0	1	0	11	6				
RPS3A	6189	broad.mit.edu	37	4	152022142	152022142	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr4:152022142G>A	ENST00000274065.4	+	3	262	c.182G>A	c.(181-183)gGt>gAt	p.G61D	SNORD73A_ENST00000386062.1_RNA|RPS3A_ENST00000514682.1_Missense_Mutation_p.G24D|RPS3A_ENST00000506126.1_Missense_Mutation_p.G24D|RPS3A_ENST00000322686.6_Missense_Mutation_p.G48D|RPS3A_ENST00000509736.1_Intron|SNORD73_ENST00000364394.1_RNA|RPS3A_ENST00000512690.1_Missense_Mutation_p.G61D	NM_001006.4	NP_000997.1			ribosomal protein S3A											endometrium(1)|lung(1)|ovary(1)|pancreas(1)	4	all_hematologic(180;0.093)					GCATCTGATGGTCTCAAGGGT	0.348																																						ENST00000322686.6																			0				endometrium(1)|lung(1)|ovary(1)|pancreas(1)	4						c.(142-144)gGt>gAt		ribosomal protein S3A							43.0	43.0	43.0					4																	152022142		2100	4251	6351	SO:0001583	missense	6189				cell differentiation|endocrine pancreas development|induction of apoptosis|translational elongation|translational initiation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome	g.chr4:152022142G>A	X87373	CCDS3775.1	4q31.2-q31.3	2011-04-05			ENSG00000145425	ENSG00000145425		"""S ribosomal proteins"""	10421	protein-coding gene	gene with protein product		180478		MFTL		8647443, 1398113	Standard	NM_001006		Approved	S3A	uc003ilz.4	P61247	OTTHUMG00000161445	ENST00000274065.4:c.182G>A	4.37:g.152022142G>A	ENSP00000346050:p.Gly61Asp					RPS3A_ENST00000509736.1_Intron|RPS3A_ENST00000514682.1_Missense_Mutation_p.G24D|RPS3A_ENST00000506126.1_Missense_Mutation_p.G24D|RPS3A_ENST00000274065.4_Missense_Mutation_p.G61D|RPS3A_ENST00000512690.1_Missense_Mutation_p.G61D	p.G48D			P61247	RS3A_HUMAN			4	167	+	all_hematologic(180;0.093)		61						Missense_Mutation	SNP	ENST00000274065.4	37	c.143G>A	CCDS3775.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.999515	0.74818	.	.	ENSG00000145425	ENST00000274065;ENST00000505243;ENST00000514682;ENST00000322686;ENST00000503002;ENST00000508783;ENST00000507327;ENST00000515792;ENST00000506126;ENST00000510993	.	.	.	5.54	5.54	0.83059	.	0.000000	0.34067	N	0.004285	D	0.85583	0.5730	H	0.94582	3.555	0.80722	D	1	P	0.36712	0.566	P	0.46850	0.529	D	0.88096	0.2816	9	0.72032	D	0.01	.	19.538	0.95262	0.0:0.0:1.0:0.0	.	61	P61247	RS3A_HUMAN	D	61;24;24;48;24;24;24;55;24;41	.	ENSP00000346050:G61D	G	+	2	0	RPS3A	152241592	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	9.811000	0.99226	2.614000	0.88457	0.555000	0.69702	GGT		0.348	RPS3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364957.1			21	41	0	0	0	1	0	21	41				
PRIM2	5558	broad.mit.edu	37	6	57185310	57185310	+	Silent	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr6:57185310C>T	ENST00000607273.1	+	3	297	c.210C>T	c.(208-210)taC>taT	p.Y70Y	PRIM2_ENST00000389488.2_3'UTR	NM_000947.3	NP_000938.2	P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)	70					DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		CTGAACAATACCAGAGTAAGT	0.308																																						ENST00000607273.1																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59						c.(208-210)taC>taT		primase, DNA, polypeptide 2 (58kDa)							58.0	58.0	58.0					6																	57185310		1815	4076	5891	SO:0001819	synonymous_variant	5558				DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding	g.chr6:57185310C>T		CCDS75476.1, CCDS75477.1	6p12-p11.1	2013-01-31	2007-06-19	2007-06-19	ENSG00000146143	ENSG00000146143			9370	protein-coding gene	gene with protein product		176636	"""primase, polypeptide 2A (58kD)"", ""primase, polypeptide 2A, 58kDa"""	PRIM2A		8530050, 20675616	Standard	NM_001282487		Approved		uc003pdx.3	P49643	OTTHUMG00000016190	ENST00000607273.1:c.210C>T	6.37:g.57185310C>T						PRIM2_ENST00000389488.2_3'UTR	p.Y70Y	NM_000947.2	NP_000938.2	P49643	PRI2_HUMAN		Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)	3	297	+			70					Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413	Silent	SNP	ENST00000607273.1	37	c.210C>T																																																																																					0.308	PRIM2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_000947		9	28	0	0	0	1	0	9	28				
CNTNAP1	8506	broad.mit.edu	37	17	40844591	40844591	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr17:40844591G>C	ENST00000264638.4	+	17	2822	c.2605G>C	c.(2605-2607)Gag>Cag	p.E869Q	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	869	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		AGACGACTTTGAGTTCAATGA	0.587																																						ENST00000264638.4																			0				NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(2605-2607)Gag>Cag		contactin associated protein 1							158.0	139.0	146.0					17																	40844591		2203	4300	6503	SO:0001583	missense	8506				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr17:40844591G>C	U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"""neurexin 4"""	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.2605G>C	17.37:g.40844591G>C	ENSP00000264638:p.Glu869Gln					CTD-3193K9.3_ENST00000592440.1_RNA	p.E869Q	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.143)	17	2822	+		Breast(137;0.000143)	869			Laminin G-like 3.			Missense_Mutation	SNP	ENST00000264638.4	37	c.2605G>C	CCDS11436.1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.711232	0.48517	.	.	ENSG00000108797	ENST00000264638	T	0.77358	-1.09	5.14	5.14	0.70334	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.267147	0.32258	N	0.006356	T	0.53254	0.1785	N	0.03608	-0.345	0.31858	N	0.621331	P	0.41450	0.75	B	0.37387	0.248	T	0.62905	-0.6755	10	0.40728	T	0.16	.	9.5053	0.39042	0.0933:0.0:0.9067:0.0	.	869	P78357	CNTP1_HUMAN	Q	869	ENSP00000264638:E869Q	ENSP00000264638:E869Q	E	+	1	0	CNTNAP1	38098117	0.999000	0.42202	0.997000	0.53966	0.965000	0.64279	3.483000	0.53194	2.686000	0.91538	0.561000	0.74099	GAG		0.587	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452342.1	NM_003632		31	81	0	0	0	1	0	31	81				
IL12RB2	3595	broad.mit.edu	37	1	67861487	67861487	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr1:67861487G>C	ENST00000262345.1	+	16	2944	c.2304G>C	c.(2302-2304)aaG>aaC	p.K768N	IL12RB2_ENST00000544434.1_Missense_Mutation_p.K682N|IL12RB2_ENST00000371000.1_3'UTR|IL12RB2_ENST00000541374.1_3'UTR	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	768					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma production (GO:0032609)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interferon-gamma production (GO:0032729)|response to lipopolysaccharide (GO:0032496)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						ATCTGTACAAGGTGCTGGAGA	0.582																																						ENST00000262345.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						c.(2302-2304)aaG>aaC		interleukin 12 receptor, beta 2							98.0	95.0	96.0					1																	67861487		2203	4300	6503	SO:0001583	missense	3595				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity	g.chr1:67861487G>C	U64198	CCDS638.1, CCDS58006.1, CCDS58007.1, CCDS72805.1	1p31.3-p31.2	2014-07-15			ENSG00000081985	ENSG00000081985		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	5972	protein-coding gene	gene with protein product		601642				9284929, 8943050	Standard	NM_001559		Approved		uc001ddu.3	Q99665	OTTHUMG00000009094	ENST00000262345.1:c.2304G>C	1.37:g.67861487G>C	ENSP00000262345:p.Lys768Asn					IL12RB2_ENST00000371000.1_3'UTR|IL12RB2_ENST00000541374.1_3'UTR|IL12RB2_ENST00000544434.1_Missense_Mutation_p.K682N	p.K768N	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN			16	2944	+			768					B1AN98|B7ZKL9|F5H7L6|Q2M3V3	Missense_Mutation	SNP	ENST00000262345.1	37	c.2304G>C	CCDS638.1	.	.	.	.	.	.	.	.	.	.	G	14.18	2.458732	0.43634	.	.	ENSG00000081985	ENST00000262345;ENST00000544434	T;T	0.52295	0.67;1.42	5.39	4.48	0.54585	.	0.482935	0.23461	N	0.047927	T	0.48241	0.1489	M	0.65975	2.015	0.80722	D	1	D;D	0.69078	0.988;0.997	P;P	0.60789	0.844;0.879	T	0.47573	-0.9107	10	0.31617	T	0.26	-15.141	10.3657	0.44021	0.0911:0.0:0.9089:0.0	.	682;768	F5H7L6;Q99665	.;I12R2_HUMAN	N	768;682	ENSP00000262345:K768N;ENSP00000442443:K682N	ENSP00000262345:K768N	K	+	3	2	IL12RB2	67634075	1.000000	0.71417	1.000000	0.80357	0.007000	0.05969	2.940000	0.49003	1.421000	0.47157	0.561000	0.74099	AAG		0.582	IL12RB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025202.2	NM_001559		48	181	0	0	0	1	0	48	181				
NIT2	56954	broad.mit.edu	37	3	100058770	100058770	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr3:100058770C>G	ENST00000394140.4	+	3	329	c.238C>G	c.(238-240)Ctc>Gtc	p.L80V		NM_020202.4	NP_064587.1	Q9NQR4	NIT2_HUMAN	nitrilase family, member 2	80	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				asparagine metabolic process (GO:0006528)|glutamine metabolic process (GO:0006541)|oxaloacetate metabolic process (GO:0006107)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	omega-amidase activity (GO:0050152)			breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						CAGCATATATCTCATTGGAGG	0.418																																						ENST00000394140.3																			0				breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						c.(238-240)Ctc>Gtc		nitrilase family, member 2							76.0	73.0	74.0					3																	100058770		2203	4300	6503	SO:0001583	missense	56954				nitrogen compound metabolic process		omega-amidase activity	g.chr3:100058770C>G	AF284574	CCDS33806.1	3q12.3	2004-07-12			ENSG00000114021	ENSG00000114021			29878	protein-coding gene	gene with protein product						10959838	Standard	NM_020202		Approved		uc003dtv.3	Q9NQR4	OTTHUMG00000159066	ENST00000394140.4:c.238C>G	3.37:g.100058770C>G	ENSP00000377696:p.Leu80Val						p.L80V	NM_020202.4	NP_064587.1	Q9NQR4	NIT2_HUMAN			3	329	+			80			CN hydrolase.		B2R9A3|D3DN47|Q8WUF0	Missense_Mutation	SNP	ENST00000394140.4	37	c.238C>G	CCDS33806.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.90|13.90	2.374934|2.374934	0.42105|0.42105	.|.	.|.	ENSG00000114021|ENSG00000114021	ENST00000394140|ENST00000497785	D|.	0.86030|.	-2.06|.	5.24|5.24	4.36|4.36	0.52297|0.52297	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (4);|.	0.197014|.	0.43747|.	N|.	0.000525|.	T|T	0.61974|0.61974	0.2390|0.2390	L|L	0.46670|0.46670	1.46|1.46	0.48901|0.48901	D|D	0.999727|0.999727	P;B|.	0.39717|.	0.684;0.003|.	B;B|.	0.35550|.	0.205;0.019|.	T|T	0.59700|0.59700	-0.7405|-0.7405	10|5	0.45353|.	T|.	0.12|.	-14.0103|-14.0103	15.8251|15.8251	0.78698|0.78698	0.0:0.8547:0.1453:0.0|0.0:0.8547:0.1453:0.0	.|.	80;80|.	B7Z3F9;Q9NQR4|.	.;NIT2_HUMAN|.	V|C	80|173	ENSP00000377696:L80V|.	ENSP00000377696:L80V|.	L|S	+|+	1|2	0|0	NIT2|NIT2	101541460|101541460	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	3.622000|3.622000	0.54217|0.54217	1.337000|1.337000	0.45525|0.45525	0.655000|0.655000	0.94253|0.94253	CTC|TCT		0.418	NIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353142.2	NM_020202		49	49	0	0	0	1	0	49	49				
ANKRD22	118932	broad.mit.edu	37	10	90591734	90591734	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr10:90591734C>T	ENST00000371930.4	-	2	281	c.71G>A	c.(70-72)tGg>tAg	p.W24*		NM_144590.2	NP_653191.2	Q5VYY1	ANR22_HUMAN	ankyrin repeat domain 22	24										NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10		Colorectal(252;0.0163)		Colorectal(12;6.29e-05)|COAD - Colon adenocarcinoma(12;7.69e-05)		TTCTTTCACCCACCGCCACAC	0.493																																						ENST00000371930.4																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10						c.(70-72)tGg>tAg		ankyrin repeat domain 22							251.0	243.0	246.0					10																	90591734		2203	4300	6503	SO:0001587	stop_gained	118932							g.chr10:90591734C>T	BC021671	CCDS7390.1	10q23.31	2013-09-20			ENSG00000152766	ENSG00000152766		"""Ankyrin repeat domain containing"""	28321	protein-coding gene	gene with protein product						12477932	Standard	NM_144590		Approved	MGC22805	uc001kfj.4	Q5VYY1	OTTHUMG00000018699	ENST00000371930.4:c.71G>A	10.37:g.90591734C>T	ENSP00000360998:p.Trp24*						p.W24*	NM_144590.2	NP_653191.2	Q5VYY1	ANR22_HUMAN		Colorectal(12;6.29e-05)|COAD - Colon adenocarcinoma(12;7.69e-05)	2	281	-		Colorectal(252;0.0163)	24					B2R9Y7|Q8WU06	Nonsense_Mutation	SNP	ENST00000371930.4	37	c.71G>A	CCDS7390.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.624197	0.87560	.	.	ENSG00000152766	ENST00000371930	.	.	.	5.58	3.7	0.42460	.	0.333204	0.28257	N	0.016005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-2.9374	8.8041	0.34927	0.3045:0.5482:0.1473:0.0	.	.	.	.	X	24	.	ENSP00000360998:W24X	W	-	2	0	ANKRD22	90581714	1.000000	0.71417	0.100000	0.21137	0.630000	0.37929	2.734000	0.47368	0.696000	0.31696	0.561000	0.74099	TGG		0.493	ANKRD22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049262.1	NM_144590		8	172	0	0	0	1	0	8	172				
VPS36	51028	broad.mit.edu	37	13	52990211	52990211	+	Silent	SNP	G	G	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr13:52990211G>T	ENST00000378060.4	-	13	1035	c.1008C>A	c.(1006-1008)tcC>tcA	p.S336S		NM_001282168.1|NM_001282169.1|NM_016075.2	NP_001269097.1|NP_001269098.1|NP_057159.2	Q86VN1	VPS36_HUMAN	vacuolar protein sorting 36 homolog (S. cerevisiae)	336					endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylinositol-3-phosphate binding (GO:0032266)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	17		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.14e-08)		CTGATGTTAGGGATCCCTTTT	0.368																																						ENST00000378060.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	17						c.(1006-1008)tcC>tcA		vacuolar protein sorting 36 homolog (S. cerevisiae)							106.0	97.0	100.0					13																	52990211		2203	4300	6503	SO:0001819	synonymous_variant	51028				cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|late endosome|membrane|nucleus	lipid binding	g.chr13:52990211G>T	AF151903	CCDS9434.1, CCDS73577.1	13q14.13	2008-02-05	2007-01-12	2005-08-02	ENSG00000136100	ENSG00000136100			20312	protein-coding gene	gene with protein product		610903	"""chromosome 13 open reading frame 9"", ""vacuolar protein sorting 36 homolog (yeast)"""	C13orf9		11278625, 15755741	Standard	NM_016075		Approved	CGI-145, Eap45	uc001vgs.3	Q86VN1	OTTHUMG00000016964	ENST00000378060.4:c.1008C>A	13.37:g.52990211G>T							p.S336S	NM_016075.2	NP_057159.2	Q86VN1	VPS36_HUMAN		GBM - Glioblastoma multiforme(99;3.14e-08)	13	1035	-		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	336					A8K125|Q3ZCV7|Q5H9S1|Q5VXB6|Q9H8Z5|Q9Y3E3	Silent	SNP	ENST00000378060.4	37	c.1008C>A	CCDS9434.1																																																																																				0.368	VPS36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045059.3			4	80	1	0	1.23904e-05	1	1.38604e-05	4	80				
PFAS	5198	broad.mit.edu	37	17	8159006	8159006	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr17:8159006C>A	ENST00000314666.6	+	5	704	c.571C>A	c.(571-573)Ctt>Att	p.L191I	PFAS_ENST00000545834.1_Intron	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	191					'de novo' IMP biosynthetic process (GO:0006189)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphoribosylformylglycinamidine synthase activity (GO:0004642)			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamine(DB00130)	CAACCAGGAGCTTGGTGAGTA	0.577																																						ENST00000314666.6																			0				central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35						c.(571-573)Ctt>Att		phosphoribosylformylglycinamidine synthase	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						45.0	44.0	44.0					17																	8159006		2203	4300	6503	SO:0001583	missense	5198				'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding	g.chr17:8159006C>A	AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	6.3.5.3		8863	protein-coding gene	gene with protein product	"""FGAR amidotransferase"""	602133				8110788	Standard	NM_012393		Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.571C>A	17.37:g.8159006C>A	ENSP00000313490:p.Leu191Ile					PFAS_ENST00000545834.1_Intron	p.L191I	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN			5	704	+			191					A6H8V8	Missense_Mutation	SNP	ENST00000314666.6	37	c.571C>A	CCDS11136.1	.	.	.	.	.	.	.	.	.	.	C	19.84	3.901599	0.72754	.	.	ENSG00000178921	ENST00000314666	T	0.34472	1.36	5.55	3.57	0.40892	.	0.000000	0.64402	D	0.000002	T	0.55561	0.1928	M	0.76170	2.325	0.80722	D	1	D	0.76494	0.999	D	0.68353	0.957	T	0.57225	-0.7848	10	0.87932	D	0	-8.8838	9.844	0.41015	0.0:0.8341:0.0:0.1659	.	191	O15067	PUR4_HUMAN	I	191	ENSP00000313490:L191I	ENSP00000313490:L191I	L	+	1	0	PFAS	8099731	1.000000	0.71417	1.000000	0.80357	0.749000	0.42624	4.097000	0.57741	0.716000	0.32124	0.462000	0.41574	CTT		0.577	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226994.2			4	23	1	0	1	1	1	4	23				
GAS8	2622	broad.mit.edu	37	16	90099333	90099333	+	Splice_Site	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr16:90099333G>A	ENST00000268699.4	+	4	617		c.e4+1		GAS8_ENST00000536122.1_Splice_Site|GAS8_ENST00000540721.1_Splice_Site	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8						cellular protein localization (GO:0034613)|negative regulation of cell proliferation (GO:0008285)|sperm motility (GO:0030317)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile cilium (GO:0031514)				endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		CCTGCGGCTGGTAGGTGTGGC	0.572																																						ENST00000268699.4																			0				endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14						c.e4+1		growth arrest-specific 8							54.0	48.0	50.0					16																	90099333		2198	4300	6498	SO:0001630	splice_region_variant	2622				negative regulation of cell proliferation|sperm motility	cilium|Golgi apparatus|microtubule|microtubule basal body|microtubule-based flagellum	protein binding	g.chr16:90099333G>A	AF050079	CCDS10992.1, CCDS67101.1, CCDS73932.1	16q24.3	2014-07-18	2003-01-16	2003-01-17	ENSG00000141013	ENSG00000141013			4166	protein-coding gene	gene with protein product		605178	"""growth arrest-specific 11"""	GAS11		9790751	Standard	NM_001481		Approved		uc002fqi.1	O95995	OTTHUMG00000138988	ENST00000268699.4:c.495+1G>A	16.37:g.90099333G>A						GAS8_ENST00000536122.1_Splice_Site|GAS8_ENST00000540721.1_Splice_Site		NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.029)	4	617	+		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)						B2RCT1|B7Z4U1|G3V1L5|Q2M234	Splice_Site	SNP	ENST00000268699.4	37		CCDS10992.1	.	.	.	.	.	.	.	.	.	.	G	19.61	3.860193	0.71834	.	.	ENSG00000141013	ENST00000536122;ENST00000268699;ENST00000540721;ENST00000537797	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.38	0.94529	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GAS8	88626834	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	7.206000	0.77891	2.689000	0.91719	0.555000	0.69702	.		0.572	GAS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272877.2		Intron	3	11	0	0	0	1	0	3	11				
NRBP1	29959	broad.mit.edu	37	2	27663340	27663340	+	Silent	SNP	C	C	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr2:27663340C>A	ENST00000233557.3	+	13	1939	c.1107C>A	c.(1105-1107)atC>atA	p.I369I	NRBP1_ENST00000379852.3_Silent_p.I369I|NRBP1_ENST00000379863.3_Silent_p.I377I|KRTCAP3_ENST00000543753.1_5'Flank|KRTCAP3_ENST00000407293.1_5'Flank|KRTCAP3_ENST00000288873.3_5'Flank			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1	369					ER to Golgi vesicle-mediated transport (GO:0006888)|gene expression (GO:0010467)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell projection (GO:0042995)|endomembrane system (GO:0012505)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					TGGCTGAAATCCCTGCAGGAC	0.493																																						ENST00000233557.3																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						c.(1105-1107)atC>atA		nuclear receptor binding protein 1							101.0	98.0	99.0					2																	27663340		2203	4300	6503	SO:0001819	synonymous_variant	29959				ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm	ATP binding|protein homodimerization activity|protein kinase activity	g.chr2:27663340C>A	AF113249	CCDS1753.1	2p23	2008-02-05	2005-12-22	2005-12-22	ENSG00000115216	ENSG00000115216			7993	protein-coding gene	gene with protein product		606010	"""nuclear receptor binding protein"""	NRBP		10843813, 11956649	Standard	NM_013392		Approved	BCON3, MUDPNP, MADM	uc002rkp.3	Q9UHY1	OTTHUMG00000097789	ENST00000233557.3:c.1107C>A	2.37:g.27663340C>A						NRBP1_ENST00000379852.3_Silent_p.I369I|NRBP1_ENST00000379863.3_Silent_p.I377I	p.I369I			Q9UHY1	NRBP_HUMAN			13	1939	+	Acute lymphoblastic leukemia(172;0.155)		369					B3KV40|D6W558|Q53FZ5|Q96SU3	Silent	SNP	ENST00000233557.3	37	c.1107C>A	CCDS1753.1																																																																																				0.493	NRBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215033.1	NM_013392		29	57	1	0	1.02151e-06	1	1.16241e-06	29	57				
SCG2	7857	broad.mit.edu	37	2	224462781	224462781	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr2:224462781T>C	ENST00000305409.2	-	2	1452	c.1220A>G	c.(1219-1221)aAt>aGt	p.N407S		NM_003469.4	NP_003460.2	O00255	MEN1_HUMAN	secretogranin II	0					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		GAGCATCCTATTTTGGAACAG	0.502																																						ENST00000305409.2																			0				NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44						c.(1219-1221)aAt>aGt		secretogranin II							75.0	71.0	72.0					2																	224462781		2203	4300	6503	SO:0001583	missense	7857				angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity	g.chr2:224462781T>C	M25756	CCDS2457.1	2q35-q36	2010-04-27	2010-04-27		ENSG00000171951	ENSG00000171951			10575	protein-coding gene	gene with protein product	"""secretoneurin"", ""chromogranin C"""	118930				8617499, 16101435	Standard	NM_003469		Approved	CHGC, SgII, SN	uc002vnm.3	P13521	OTTHUMG00000133166	ENST00000305409.2:c.1220A>G	2.37:g.224462781T>C	ENSP00000304133:p.Asn407Ser						p.N407S	NM_003469.4	NP_003460.2	P13521	SCG2_HUMAN		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)	2	1452	-		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)	407					A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Missense_Mutation	SNP	ENST00000305409.2	37	c.1220A>G	CCDS2457.1	.	.	.	.	.	.	.	.	.	.	T	7.588	0.670182	0.14776	.	.	ENSG00000171951	ENST00000305409;ENST00000450330	T	0.01505	4.82	5.86	1.64	0.23874	.	0.376604	0.29300	N	0.012558	T	0.01156	0.0038	N	0.13235	0.315	0.30329	N	0.786803	B	0.13145	0.007	B	0.14578	0.011	T	0.39941	-0.9589	10	0.25751	T	0.34	.	5.9181	0.19065	0.0:0.1747:0.1346:0.6907	.	407	P13521	SCG2_HUMAN	S	407;267	ENSP00000304133:N407S	ENSP00000304133:N407S	N	-	2	0	SCG2	224171025	0.979000	0.34478	0.922000	0.36590	0.847000	0.48162	0.902000	0.28459	0.301000	0.22738	0.528000	0.53228	AAT		0.502	SCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256870.2	NM_003469		15	79	0	0	0	1	0	15	79				
C17orf75	64149	broad.mit.edu	37	17	30665271	30665271	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr17:30665271T>G	ENST00000577809.1	-	4	496	c.447A>C	c.(445-447)gaA>gaC	p.E149D	RP11-227G15.3_ENST00000581915.1_RNA|C17orf75_ENST00000225805.4_Missense_Mutation_p.E149D	NM_022344.3	NP_071739.2	Q9HAS0	NJMU_HUMAN	chromosome 17 open reading frame 75	149										ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			AGACCACATATTCTGAAGGGT	0.403																																						ENST00000577809.1																			0				ovary(1)	1						c.(445-447)gaA>gaC		chromosome 17 open reading frame 75							152.0	146.0	148.0					17																	30665271		1841	4099	5940	SO:0001583	missense	64149				spermatogenesis			g.chr17:30665271T>G	AB062437	CCDS58537.1	17q11.2	2013-01-21			ENSG00000108666	ENSG00000108666			30173	protein-coding gene	gene with protein product							Standard	NM_022344		Approved	NJMU-R1	uc002hhg.3	Q9HAS0		ENST00000577809.1:c.447A>C	17.37:g.30665271T>G	ENSP00000464275:p.Glu149Asp					RP11-227G15.3_ENST00000581915.1_RNA|C17orf75_ENST00000225805.4_Missense_Mutation_p.E149D	p.E149D	NM_022344.3	NP_071739.2	Q9HAS0	NJMU_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.239)		4	496	-		Breast(31;0.116)|Ovarian(249;0.182)	149					Q7Z2H4	Missense_Mutation	SNP	ENST00000577809.1	37	c.447A>C	CCDS58537.1	.	.	.	.	.	.	.	.	.	.	T	12.65	2.002085	0.35320	.	.	ENSG00000108666	ENST00000225805	.	.	.	5.68	-0.0434	0.13859	.	0.095110	0.64402	N	0.000001	T	0.38480	0.1042	L	0.45581	1.43	0.34092	D	0.660861	B	0.14805	0.011	B	0.16722	0.016	T	0.26916	-1.0089	9	0.41790	T	0.15	-9.5076	5.2391	0.15462	0.0:0.2974:0.2648:0.4378	.	149	Q9HAS0	NJMU_HUMAN	D	149	.	ENSP00000225805:E149D	E	-	3	2	C17orf75	27689384	0.613000	0.27009	0.999000	0.59377	0.966000	0.64601	-0.311000	0.08124	0.127000	0.18452	-0.366000	0.07423	GAA		0.403	C17orf75-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447204.1	NM_022344		31	60	0	0	0	1	0	31	60				
KRTAP4-6	81871	broad.mit.edu	37	17	39296282	39296282	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr17:39296282G>T	ENST00000345847.4	-	1	457	c.458C>A	c.(457-459)tCt>tAt	p.S153Y		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	153	30 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].					keratin filament (GO:0045095)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						ttcacagcaagaggggcggca	0.662																																						ENST00000345847.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						c.(457-459)tCt>tAt		keratin associated protein 4-6																																				SO:0001583	missense	81871					keratin filament		g.chr17:39296282G>T	AJ406938	CCDS54125.1	17q21.2	2013-06-25			ENSG00000198090	ENSG00000198090		"""Keratin associated proteins"""	18909	protein-coding gene	gene with protein product			"""keratin associated protein 4-15"""	KRTAP4-15			Standard	NM_030976		Approved	KAP4.6, KAP4.15	uc010cxk.2	Q9BYQ5	OTTHUMG00000133634	ENST00000345847.4:c.458C>A	17.37:g.39296282G>T	ENSP00000328270:p.Ser153Tyr						p.S153Y	NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN			1	457	-			149			29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].		Q9BYR1	Missense_Mutation	SNP	ENST00000345847.4	37	c.458C>A	CCDS54125.1	.	.	.	.	.	.	.	.	.	.	.	10.39	1.337834	0.24253	.	.	ENSG00000198090	ENST00000345847	T	0.01838	4.61	3.93	-1.16	0.09678	.	.	.	.	.	T	0.05181	0.0138	M	0.83012	2.62	0.09310	N	1	.	.	.	.	.	.	T	0.30297	-0.9983	7	0.27785	T	0.31	.	4.1853	0.10395	0.0937:0.4543:0.2973:0.1547	.	.	.	.	Y	153	ENSP00000328270:S153Y	ENSP00000328270:S153Y	S	-	2	0	KRTAP4-6	36549808	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.680000	0.01939	-0.014000	0.14175	-1.066000	0.02275	TCT		0.662	KRTAP4-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257779.1			4	5	1	0	1.06961e-07	1	1.2385e-07	4	5				
EGR3	1960	broad.mit.edu	37	8	22548538	22548538	+	Silent	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr8:22548538G>A	ENST00000317216.2	-	2	969	c.612C>T	c.(610-612)ggC>ggT	p.G204G	EGR3_ENST00000522910.1_Silent_p.G166G|RP11-459E5.1_ENST00000523627.1_RNA|EGR3_ENST00000524088.1_5'UTR|EGR3_ENST00000519492.1_3'UTR	NM_001199881.1|NM_004430.2	NP_001186810.1|NP_004421.2	Q06889	EGR3_HUMAN	early growth response 3	204					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|circadian rhythm (GO:0007623)|endothelial cell chemotaxis (GO:0035767)|muscle organ development (GO:0007517)|negative regulation of apoptotic process (GO:0043066)|neuromuscular synaptic transmission (GO:0007274)|peripheral nervous system development (GO:0007422)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of gamma-delta T cell differentiation (GO:0045586)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|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)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Prostate(55;0.0421)|Breast(100;0.102)		Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608)		CCGGAATGGAGCCCATGTCGT	0.577																																						ENST00000317216.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(610-612)ggC>ggT		early growth response 3							64.0	67.0	66.0					8																	22548538		2203	4300	6503	SO:0001819	synonymous_variant	1960				circadian rhythm|muscle organ development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:22548538G>A	X63741	CCDS6033.1, CCDS56528.1	8p23-p21	2013-01-08			ENSG00000179388	ENSG00000179388		"""Zinc fingers, C2H2-type"""	3240	protein-coding gene	gene with protein product	"""zinc finger protein pilot"""	602419				1906159, 11909874	Standard	NM_004430		Approved	PILOT	uc003xcm.1	Q06889	OTTHUMG00000097825	ENST00000317216.2:c.612C>T	8.37:g.22548538G>A						RP11-459E5.1_ENST00000523627.1_RNA|EGR3_ENST00000522910.1_Silent_p.G166G|EGR3_ENST00000519492.1_3'UTR|EGR3_ENST00000524088.1_5'UTR	p.G204G	NM_001199881.1|NM_004430.2	NP_001186810.1|NP_004421.2	Q06889	EGR3_HUMAN		Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608)	2	969	-		Prostate(55;0.0421)|Breast(100;0.102)	204					A8K8U9|B4DHJ5|E7EW38|Q2M3W2	Silent	SNP	ENST00000317216.2	37	c.612C>T	CCDS6033.1																																																																																				0.577	EGR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215098.1	NM_004430		4	56	0	0	0	1	0	4	56				
NUP210L	91181	broad.mit.edu	37	1	154027277	154027277	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr1:154027277T>G	ENST00000368559.3	-	24	3343	c.3272A>C	c.(3271-3273)aAa>aCa	p.K1091T	NUP210L_ENST00000368553.1_Missense_Mutation_p.K24T|NUP210L_ENST00000271854.3_Missense_Mutation_p.K1091T	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1091					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)		p.K1091R(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CAGTGTCATTTTCTCTGGAAG	0.368																																						ENST00000368559.3																			1	Substitution - Missense(1)	p.K1091R(1)	lung(1)	NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80						c.(3271-3273)aAa>aCa		nucleoporin 210kDa-like							108.0	102.0	104.0					1																	154027277		1861	4107	5968	SO:0001583	missense	91181					integral to membrane		g.chr1:154027277T>G	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.3272A>C	1.37:g.154027277T>G	ENSP00000357547:p.Lys1091Thr					NUP210L_ENST00000271854.3_Missense_Mutation_p.K1091T|NUP210L_ENST00000368553.1_Missense_Mutation_p.K24T	p.K1091T	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		24	3343	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		1091					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	ENST00000368559.3	37	c.3272A>C	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	T	19.40	3.820528	0.71028	.	.	ENSG00000143552	ENST00000368559;ENST00000368553;ENST00000271854	T;T;T	0.42900	0.96;0.96;0.96	4.83	4.83	0.62350	Bacterial Ig-like, group 2 (2);Invasin/intimin cell-adhesion (1);	0.000000	0.64402	D	0.000005	T	0.42988	0.1227	L	0.59912	1.85	0.35488	D	0.798749	D;D	0.67145	0.991;0.996	P;P	0.60012	0.622;0.867	T	0.38457	-0.9660	10	0.30854	T	0.27	-21.7368	12.7933	0.57547	0.0:0.0:0.0:1.0	.	1091;1091	E7EP56;Q5VU65	.;P210L_HUMAN	T	1091;24;1091	ENSP00000357547:K1091T;ENSP00000357541:K24T;ENSP00000271854:K1091T	ENSP00000271854:K1091T	K	-	2	0	NUP210L	152293901	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.813000	0.62620	2.035000	0.60131	0.528000	0.53228	AAA		0.368	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		23	45	0	0	0	1	0	23	45				
UBA5	79876	broad.mit.edu	37	3	132387710	132387710	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr3:132387710C>A	ENST00000356232.4	+	4	1418	c.346C>A	c.(346-348)Ctt>Att	p.L116I	UBA5_ENST00000473651.1_Missense_Mutation_p.L116I|UBA5_ENST00000264991.4_Missense_Mutation_p.L60I|UBA5_ENST00000494238.2_Missense_Mutation_p.L60I|UBA5_ENST00000493720.2_Missense_Mutation_p.L116I	NM_024818.3	NP_079094.1	Q9GZZ9	UBA5_HUMAN	ubiquitin-like modifier activating enzyme 5	116					protein ufmylation (GO:0071569)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|UFM1 activating enzyme activity (GO:0071566)			breast(2)|endometrium(4)|kidney(4)|large_intestine(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						TATGAATAGACTTTTCTTCCA	0.333																																						ENST00000356232.4																			0				breast(2)|endometrium(4)|kidney(4)|large_intestine(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(346-348)Ctt>Att		ubiquitin-like modifier activating enzyme 5							133.0	131.0	132.0					3																	132387710		2203	4298	6501	SO:0001583	missense	79876				protein ufmylation	aggresome|cytoplasm|nucleus	ATP binding|cofactor binding|metal ion binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding|UFM1 activating enzyme activity	g.chr3:132387710C>A	AY253672	CCDS3076.1, CCDS3077.1	3q22	2007-11-30	2007-11-30	2007-11-30	ENSG00000081307	ENSG00000081307		"""Ubiquitin-like modifier activating enzymes"""	23230	protein-coding gene	gene with protein product	"""UBA5, ubiquitin-activating enzyme E1 homolog (yeast)"""	610552	"""ubiquitin-activating enzyme E1-domain containing 1"""	UBE1DC1		11230166, 15071506	Standard	NM_198329		Approved	FLJ23251	uc003epa.4	Q9GZZ9	OTTHUMG00000159759	ENST00000356232.4:c.346C>A	3.37:g.132387710C>A	ENSP00000348565:p.Leu116Ile					UBA5_ENST00000264991.4_Missense_Mutation_p.L60I|UBA5_ENST00000473651.1_Missense_Mutation_p.L116I|UBA5_ENST00000493720.2_Missense_Mutation_p.L116I|UBA5_ENST00000494238.2_Missense_Mutation_p.L60I	p.L116I	NM_024818.3	NP_079094.1	Q9GZZ9	UBA5_HUMAN			4	1418	+			116					A6NJL3|D3DNC8|Q96ST1	Missense_Mutation	SNP	ENST00000356232.4	37	c.346C>A	CCDS3076.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.645891	0.87958	.	.	ENSG00000081307	ENST00000264991;ENST00000356232;ENST00000493720;ENST00000468022;ENST00000473651;ENST00000494238;ENST00000464068;ENST00000489361	T;T;T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55	5.62	5.62	0.85841	UBA/THIF-type NAD/FAD binding fold (1);Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.47284	0.1437	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	0.994;1.0	D;D	0.83275	0.934;0.996	T	0.26780	-1.0093	10	0.38643	T	0.18	-17.9414	19.6753	0.95930	0.0:1.0:0.0:0.0	.	116;116	E7EWE1;Q9GZZ9	.;UBA5_HUMAN	I	60;116;116;60;116;60;26;60	ENSP00000264991:L60I;ENSP00000348565:L116I;ENSP00000417879:L116I;ENSP00000418569:L60I;ENSP00000424984:L116I;ENSP00000418807:L60I;ENSP00000420055:L26I;ENSP00000417905:L60I	ENSP00000264991:L60I	L	+	1	0	UBA5	133870400	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	7.757000	0.85209	2.648000	0.89879	0.563000	0.77884	CTT		0.333	UBA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357187.2	NM_024818		8	70	1	0	6.31663e-08	1	7.37871e-08	8	70				
ECHDC2	55268	broad.mit.edu	37	1	53363134	53363134	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr1:53363134G>A	ENST00000371522.4	-	9	869	c.776C>T	c.(775-777)gCc>gTc	p.A259V	ECHDC2_ENST00000358358.5_Missense_Mutation_p.A228V|ECHDC2_ENST00000536120.1_Missense_Mutation_p.A213V	NM_001198961.1	NP_001185890.1	Q86YB7	ECHD2_HUMAN	enoyl CoA hydratase domain containing 2	259					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	lyase activity (GO:0016829)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	12						CCCTTCAATGGCCATCCCAGA	0.532																																						ENST00000536120.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	12						c.(637-639)gCc>gTc		enoyl CoA hydratase domain containing 2							257.0	199.0	219.0					1																	53363134		2203	4300	6503	SO:0001583	missense	55268				fatty acid metabolic process	mitochondrion	lyase activity	g.chr1:53363134G>A	AF258590	CCDS571.1, CCDS55600.1, CCDS72794.1	1p32.3	2010-04-30	2010-04-30		ENSG00000121310	ENSG00000121310			23408	protein-coding gene	gene with protein product			"""enoyl Coenzyme A hydratase domain containing 2"""				Standard	NM_018281		Approved	FLJ10948	uc001cup.4	Q86YB7	OTTHUMG00000008927	ENST00000371522.4:c.776C>T	1.37:g.53363134G>A	ENSP00000360577:p.Ala259Val					ECHDC2_ENST00000371522.4_Missense_Mutation_p.A259V|ECHDC2_ENST00000358358.5_Missense_Mutation_p.A228V	p.A213V			Q86YB7	ECHD2_HUMAN			12	1455	-			259					D3DQ36|Q9NV38	Missense_Mutation	SNP	ENST00000371522.4	37	c.638C>T	CCDS55600.1	.	.	.	.	.	.	.	.	.	.	G	17.32	3.360238	0.61403	.	.	ENSG00000121310	ENST00000371522;ENST00000358358;ENST00000536120;ENST00000467988	T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.04	5.49	3.64	0.41730	Crontonase, C-terminal (1);	0.050229	0.85682	N	0.000000	T	0.64227	0.2579	L	0.61036	1.89	0.80722	D	1	B;B	0.28208	0.177;0.203	B;B	0.33620	0.08;0.167	T	0.61352	-0.7080	10	0.39692	T	0.17	.	11.2643	0.49101	0.1497:0.0:0.8503:0.0	.	259;228	Q86YB7;Q86YB7-2	ECHD2_HUMAN;.	V	259;228;213;211	ENSP00000360577:A259V;ENSP00000351125:A228V;ENSP00000439264:A213V;ENSP00000441962:A211V	ENSP00000351125:A228V	A	-	2	0	ECHDC2	53135722	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	4.457000	0.60088	0.895000	0.36342	-0.137000	0.14449	GCC		0.532	ECHDC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024712.3	NM_018281		5	192	0	0	0	1	0	5	192				
TTC12	54970	broad.mit.edu	37	11	113194723	113194723	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr11:113194723A>C	ENST00000529221.1	+	4	335	c.230A>C	c.(229-231)gAa>gCa	p.E77A	TTC12_ENST00000314756.3_Missense_Mutation_p.E77A|TTC12_ENST00000483239.2_Missense_Mutation_p.E77A|TTC12_ENST00000393020.1_Missense_Mutation_p.E77A	NM_017868.3	NP_060338.3	Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	77										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		CAGAGTGCAGAAGAAATAAAC	0.323																																						ENST00000393020.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(229-231)gAa>gCa		tetratricopeptide repeat domain 12							147.0	138.0	141.0					11																	113194723		2201	4296	6497	SO:0001583	missense	54970						binding	g.chr11:113194723A>C	AK000542	CCDS8360.2	11q23.2	2013-01-10			ENSG00000149292	ENSG00000149292		"""Tetratricopeptide (TTC) repeat domain containing"""	23700	protein-coding gene	gene with protein product		610732				12964006	Standard	XM_005271607		Approved	FLJ13859, FLJ20535, TPARM	uc001pnu.3	Q9H892	OTTHUMG00000142832	ENST00000529221.1:c.230A>C	11.37:g.113194723A>C	ENSP00000433757:p.Glu77Ala					TTC12_ENST00000529221.1_Missense_Mutation_p.E77A|TTC12_ENST00000483239.2_Missense_Mutation_p.E77A|TTC12_ENST00000314756.3_Missense_Mutation_p.E77A	p.E77A			Q9H892	TTC12_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)	4	635	+		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)	77					Q8N5H9|Q9NWY3	Missense_Mutation	SNP	ENST00000529221.1	37	c.230A>C	CCDS8360.2	.	.	.	.	.	.	.	.	.	.	A	1.152	-0.646492	0.03531	.	.	ENSG00000149292	ENST00000529221;ENST00000429951;ENST00000442859;ENST00000531164;ENST00000529850;ENST00000314756;ENST00000525965;ENST00000393020;ENST00000455306;ENST00000483239	T;T;T;T;T;T;T;T;T;T	0.46063	2.45;0.88;1.46;1.44;0.91;2.43;0.88;2.43;1.48;2.47	5.35	3.05	0.35203	Armadillo-type fold (1);	43.508400	0.00166	N	0.000000	T	0.27205	0.0667	N	0.08118	0	0.09310	N	1	B;B	0.15473	0.013;0.013	B;B	0.14023	0.01;0.01	T	0.18871	-1.0323	10	0.37606	T	0.19	-1.6057	6.8622	0.24074	0.8207:0.0:0.1793:0.0	.	77;77	A8K8G6;Q9H892	.;TTC12_HUMAN	A	77;77;77;52;77;77;77;77;77;77	ENSP00000433757:E77A;ENSP00000413335:E77A;ENSP00000400039:E77A;ENSP00000433916:E52A;ENSP00000431806:E77A;ENSP00000315160:E77A;ENSP00000435308:E77A;ENSP00000376743:E77A;ENSP00000402004:E77A;ENSP00000419652:E77A	ENSP00000315160:E77A	E	+	2	0	TTC12	112699933	0.964000	0.33143	0.004000	0.12327	0.066000	0.16364	2.004000	0.40854	0.577000	0.29470	0.533000	0.62120	GAA		0.323	TTC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286455.2	NM_017868		7	57	0	0	0	1	0	7	57				
ATAD2B	54454	broad.mit.edu	37	2	24046247	24046247	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr2:24046247G>A	ENST00000238789.5	-	16	2355	c.2012C>T	c.(2011-2013)tCa>tTa	p.S671L	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	671						nucleus (GO:0005634)	ATP binding (GO:0005524)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCATGCCCTGAAGACATCAC	0.453																																						ENST00000238789.5																			0				central_nervous_system(1)	1						c.(2011-2013)tCa>tTa		ATPase family, AAA domain containing 2B							80.0	79.0	79.0					2																	24046247		2013	4182	6195	SO:0001583	missense	54454						ATP binding|nucleoside-triphosphatase activity	g.chr2:24046247G>A	AB033066	CCDS46227.1	2p24.1-p23.3	2010-04-21		2007-02-08	ENSG00000119778	ENSG00000119778		"""ATPases / AAA-type"""	29230	protein-coding gene	gene with protein product		615347					Standard	XM_005264372		Approved	KIAA1240	uc002rek.4	Q9ULI0	OTTHUMG00000151902	ENST00000238789.5:c.2012C>T	2.37:g.24046247G>A	ENSP00000238789:p.Ser671Leu					ATAD2B_ENST00000474583.1_5'UTR	p.S671L	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN			16	2355	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		671					B9ZVQ5|Q6ZNA6|Q8N9E7	Missense_Mutation	SNP	ENST00000238789.5	37	c.2012C>T	CCDS46227.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.258795	0.80246	.	.	ENSG00000119778	ENST00000238789	D	0.91464	-2.85	5.07	5.07	0.68467	.	.	.	.	.	D	0.85084	0.5616	N	0.20530	0.585	0.45718	D	0.998623	B	0.19331	0.035	B	0.20384	0.029	T	0.79957	-0.1584	9	0.36615	T	0.2	.	18.8411	0.92184	0.0:0.0:1.0:0.0	.	671	Q9ULI0	ATD2B_HUMAN	L	671	ENSP00000238789:S671L	ENSP00000238789:S671L	S	-	2	0	ATAD2B	23899751	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.828000	0.86729	2.539000	0.85634	0.561000	0.74099	TCA		0.453	ATAD2B-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324333.1	NM_017552		12	46	0	0	0	1	0	12	46				
ZNF33A	7581	broad.mit.edu	37	10	38301275	38301275	+	Silent	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr10:38301275C>T	ENST00000458705.2	+	2	164	c.6C>T	c.(4-6)aaC>aaT	p.N2N	ZNF33A_ENST00000476504.1_3'UTR|ZNF33A_ENST00000374618.3_Silent_p.N2N|ZNF33A_ENST00000432900.2_Intron|ZNF33A_ENST00000307441.9_Silent_p.N2N|ZNF33A_ENST00000469037.2_Silent_p.N2N			Q06730	ZN33A_HUMAN	zinc finger protein 33A	2					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)			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						ACAAAATGAACAAGGTAAGTT	0.348																																						ENST00000374618.3																			0				cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						c.(4-6)aaC>aaT		zinc finger protein 33A							111.0	112.0	112.0					10																	38301275		2203	4300	6503	SO:0001819	synonymous_variant	7581					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:38301275C>T	D31763	CCDS31182.1, CCDS60514.1, CCDS73088.1, CCDS73089.1	10p11.2	2013-01-08	2005-03-18		ENSG00000189180	ENSG00000189180		"""Zinc fingers, C2H2-type"", ""-"""	13096	protein-coding gene	gene with protein product	"""zinc finger and ZAK associated protein with KRAB domain"""	194521	"""zinc finger protein 33a (KOX 31)"", ""zinc finger protein 11A"""	ZNF33, ZNF11A		2014798, 8464732	Standard	NM_006974		Approved	KOX5, KOX31, KIAA0065, FLJ23404, ZZAPK	uc031pui.1	Q06730	OTTHUMG00000017983	ENST00000458705.2:c.6C>T	10.37:g.38301275C>T						ZNF33A_ENST00000432900.2_Intron|ZNF33A_ENST00000469037.2_Silent_p.N2N|ZNF33A_ENST00000458705.2_Silent_p.N2N|ZNF33A_ENST00000476504.1_3'UTR|ZNF33A_ENST00000307441.9_Silent_p.N2N	p.N2N	NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2	NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1	Q06730	ZN33A_HUMAN			2	184	+			2					A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86	Silent	SNP	ENST00000458705.2	37	c.6C>T	CCDS31182.1																																																																																				0.348	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047614.1	NM_006974		10	57	0	0	0	1	0	10	57				
SLC23A1	9963	broad.mit.edu	37	5	138715429	138715429	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr5:138715429G>T	ENST00000348729.3	-	8	909	c.863C>A	c.(862-864)gCa>gAa	p.A288E	SLC23A1_ENST00000353963.3_Missense_Mutation_p.A292E|SLC23A1_ENST00000503919.1_5'Flank	NM_005847.4	NP_005838	Q9UHI7	S23A1_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 1	288					brain development (GO:0007420)|dehydroascorbic acid transport (GO:0070837)|L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|lung development (GO:0030324)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transepithelial L-ascorbic acid transport (GO:0070904)|vitamin metabolic process (GO:0006766)|vitamin transmembrane transport (GO:0035461)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|brush border (GO:0005903)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular organelle (GO:0043229)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dehydroascorbic acid transporter activity (GO:0033300)|L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium ion transmembrane transporter activity (GO:0015081)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(5)|ovary(1)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		Vitamin C(DB00126)	ATCGGTTCGTGCCTGGAAGCC	0.592																																						ENST00000353963.3																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(5)|ovary(1)	19						c.(874-876)gCa>gAa		solute carrier family 23 (ascorbic acid transporter), member 1	Vitamin C(DB00126)						120.0	86.0	97.0					5																	138715429		2203	4300	6503	SO:0001583	missense	9963				brain development|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|response to toxin|transepithelial L-ascorbic acid transport|water-soluble vitamin metabolic process	apical plasma membrane|cytoplasm|integral to plasma membrane|intracellular organelle|membrane fraction	dehydroascorbic acid transporter activity|L-ascorbate:sodium symporter activity|nucleobase transmembrane transporter activity|protein binding|sodium-dependent L-ascorbate transmembrane transporter activity	g.chr5:138715429G>T	AF058317	CCDS4212.1, CCDS4213.1	5q31.2	2013-07-18	2013-07-18	2003-03-21	ENSG00000170482	ENSG00000170482		"""Solute carriers"""	10974	protein-coding gene	gene with protein product		603790	"""solute carrier family 23 (nucleobase transporters), member 2"""	SLC23A2		9804989, 10331392	Standard	NM_005847		Approved	YSPL3, SVCT1	uc003leg.3	Q9UHI7	OTTHUMG00000129228	ENST00000348729.3:c.863C>A	5.37:g.138715429G>T	ENSP00000302701:p.Ala288Glu					SLC23A1_ENST00000348729.3_Missense_Mutation_p.A288E	p.A292E	NM_152685.3	NP_689898.2	Q9UHI7	S23A1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		8	913	-			288					O95191|Q8WWB6|Q9UGH4|Q9UI39	Missense_Mutation	SNP	ENST00000348729.3	37	c.875C>A	CCDS4212.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.862506	0.91511	.	.	ENSG00000170482	ENST00000353963;ENST00000348729	T;T	0.20332	2.09;2.08	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	T	0.50411	0.1614	M	0.84082	2.675	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.79784	0.993;0.991	T	0.57573	-0.7788	10	0.72032	D	0.01	-10.4162	16.5892	0.84760	0.0:0.0:1.0:0.0	.	288;292	Q9UHI7;Q9UHI7-2	S23A1_HUMAN;.	E	292;288	ENSP00000302851:A292E;ENSP00000302701:A288E	ENSP00000302701:A288E	A	-	2	0	SLC23A1	138743328	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.406000	0.73276	2.449000	0.82847	0.561000	0.74099	GCA		0.592	SLC23A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000374185.1	NM_152685		7	36	1	0	7.48243e-07	1	8.58853e-07	7	36				
SLC40A1	30061	broad.mit.edu	37	2	190439950	190439950	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr2:190439950C>T	ENST00000261024.2	-	3	634	c.208G>A	c.(208-210)Ggg>Agg	p.G70R	SLC40A1_ENST00000418714.1_5'UTR	NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated transporter), member 1	70					anatomical structure morphogenesis (GO:0009653)|cellular iron ion homeostasis (GO:0006879)|endothelium development (GO:0003158)|iron ion transmembrane transport (GO:0034755)|lymphocyte homeostasis (GO:0002260)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of apoptotic process (GO:0043066)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|spleen trabecula formation (GO:0060345)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	iron ion transmembrane transporter activity (GO:0005381)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			AGAACAGACCCTGCCACCACC	0.488																																						ENST00000261024.2																			0				endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(208-210)Ggg>Agg		solute carrier family 40 (iron-regulated transporter), member 1							176.0	176.0	176.0					2																	190439950		2203	4300	6503	SO:0001583	missense	30061				anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding	g.chr2:190439950C>T	AF215636	CCDS2299.1	2q32	2014-09-17	2003-06-04	2003-06-05	ENSG00000138449	ENSG00000138449		"""Solute carriers"""	10909	protein-coding gene	gene with protein product	"""ferroportin 1"""	604653	"""solute carrier family 11 (proton-coupled divalent metal ion transporters), member 3"""	SLC11A3		10828623	Standard	NM_014585		Approved	MTP1, IREG1, FPN1, HFE4	uc002uqp.4	Q9NP59	OTTHUMG00000132662	ENST00000261024.2:c.208G>A	2.37:g.190439950C>T	ENSP00000261024:p.Gly70Arg					SLC40A1_ENST00000418714.1_5'UTR	p.G70R	NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)		3	634	-			70					Q6FI62|Q7Z4F8|Q8IVB2|Q9NRL0	Missense_Mutation	SNP	ENST00000261024.2	37	c.208G>A	CCDS2299.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.931285	0.92389	.	.	ENSG00000138449	ENST00000261024;ENST00000427241	T;T	0.81247	-1.44;-1.47	5.37	5.37	0.77165	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.89494	0.6731	M	0.72118	2.19	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.89393	0.3690	10	0.59425	D	0.04	-19.5648	19.3116	0.94189	0.0:1.0:0.0:0.0	.	70;70	A8K7Y1;Q9NP59	.;S40A1_HUMAN	R	70	ENSP00000261024:G70R;ENSP00000390005:G70R	ENSP00000261024:G70R	G	-	1	0	SLC40A1	190148195	1.000000	0.71417	0.972000	0.41901	0.996000	0.88848	5.762000	0.68809	2.808000	0.96608	0.650000	0.86243	GGG		0.488	SLC40A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255916.2			3	71	0	0	0	1	0	3	71				
ABTB1	80325	broad.mit.edu	37	3	127395171	127395171	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr3:127395171T>C	ENST00000232744.8	+	5	463	c.377T>C	c.(376-378)tTc>tCc	p.F126S	ABTB1_ENST00000453791.2_5'UTR|ABTB1_ENST00000468137.1_5'UTR|ABTB1_ENST00000393363.3_5'UTR					ankyrin repeat and BTB (POZ) domain containing 1											central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						GGGAAGCCATTCCGGGTGCAT	0.587																																						ENST00000232744.8																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						c.(376-378)tTc>tCc		ankyrin repeat and BTB (POZ) domain containing 1							165.0	145.0	152.0					3																	127395171		2203	4300	6503	SO:0001583	missense	80325					cytoplasm|nucleolus|plasma membrane	translation elongation factor activity	g.chr3:127395171T>C	AB053324	CCDS3045.1, CCDS46901.1	3q21	2013-01-10			ENSG00000114626	ENSG00000114626		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	18275	protein-coding gene	gene with protein product		608308				10891360, 11494141	Standard	NM_172027		Approved	BPOZ, EF1ABP, Btb3, BTBD21	uc003ejt.3	Q969K4	OTTHUMG00000159636	ENST00000232744.8:c.377T>C	3.37:g.127395171T>C	ENSP00000232744:p.Phe126Ser					ABTB1_ENST00000453791.2_5'UTR|ABTB1_ENST00000393363.3_5'UTR|ABTB1_ENST00000468137.1_5'UTR	p.F126S			Q969K4	ABTB1_HUMAN			5	463	+			126			BTB 1.			Missense_Mutation	SNP	ENST00000232744.8	37	c.377T>C	CCDS3045.1	.	.	.	.	.	.	.	.	.	.	t	15.64	2.893578	0.52121	.	.	ENSG00000114626	ENST00000232744	T	0.71698	-0.59	4.41	4.41	0.53225	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.89361	0.6693	H	0.97962	4.115	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.74348	0.975;0.983	D	0.93066	0.6478	10	0.87932	D	0	-23.1308	13.9724	0.64250	0.0:0.0:0.0:1.0	.	126;101	Q969K4;Q969K4-3	ABTB1_HUMAN;.	S	126	ENSP00000232744:F126S	ENSP00000232744:F126S	F	+	2	0	ABTB1	128877861	1.000000	0.71417	0.726000	0.30738	0.005000	0.04900	5.018000	0.64054	1.753000	0.51906	0.375000	0.23000	TTC		0.587	ABTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356595.1	NM_172027		5	291	0	0	0	1	0	5	291				
YME1L1	10730	broad.mit.edu	37	10	27431334	27431334	+	Missense_Mutation	SNP	C	C	G	rs143591480		TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr10:27431334C>G	ENST00000326799.3	-	5	731	c.583G>C	c.(583-585)Gat>Cat	p.D195H	YME1L1_ENST00000375972.3_Intron|YME1L1_ENST00000376016.3_Missense_Mutation_p.D138H	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	195					cell proliferation (GO:0008283)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrion organization (GO:0007005)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						TACTGAAGATCTGAACAAATG	0.318																																						ENST00000326799.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(583-585)Gat>Cat		YME1-like 1 ATPase		C	HIS/ASP,HIS/ASP	1,4405	2.1+/-5.4	0,1,2202	152.0	165.0	161.0		412,583	2.3	1.0	10	dbSNP_134	161	0,8600		0,0,4300	no	missense,missense	YME1L1	NM_014263.2,NM_139312.1	81,81	0,1,6502	GG,GC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	138/717,195/774	27431334	1,13005	2203	4300	6503	SO:0001583	missense	10730				protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity	g.chr10:27431334C>G	AJ132637	CCDS7151.1, CCDS7152.1, CCDS58072.1	10p14	2013-06-10	2013-06-10		ENSG00000136758	ENSG00000136758		"""ATPases / AAA-type"""	12843	protein-coding gene	gene with protein product		607472	"""YME1 (S.cerevisiae)-like 1"", ""YME1-like 1 (S. cerevisiae)"""			22262461	Standard	NM_139312		Approved		uc001itj.3	Q96TA2	OTTHUMG00000017853	ENST00000326799.3:c.583G>C	10.37:g.27431334C>G	ENSP00000318480:p.Asp195His					YME1L1_ENST00000375972.3_Intron|YME1L1_ENST00000376016.3_Missense_Mutation_p.D138H	p.D195H	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN			5	731	-			195					B4DNM1|D3DRV8|D3DRV9|Q5T8D9|Q9H1Q0|Q9UMR9	Missense_Mutation	SNP	ENST00000326799.3	37	c.583G>C	CCDS7152.1	.	.	.	.	.	.	.	.	.	.	C	18.20	3.570893	0.65765	2.27E-4	0.0	ENSG00000136758	ENST00000376016;ENST00000326799;ENST00000375969;ENST00000396296	D;D	0.92699	-3.08;-3.09	5.39	2.31	0.28768	Peptidase M41, FtsH (1);	0.338410	0.34200	N	0.004161	D	0.89420	0.6710	L	0.27053	0.805	0.80722	D	1	P;B	0.44946	0.846;0.023	P;B	0.48141	0.568;0.013	D	0.89418	0.3708	10	0.72032	D	0.01	-9.791	15.5069	0.75748	0.0:0.6089:0.3911:0.0	.	138;195	Q96TA2-2;Q96TA2	.;YMEL1_HUMAN	H	138;195;195;130	ENSP00000365184:D138H;ENSP00000318480:D195H	ENSP00000318480:D195H	D	-	1	0	YME1L1	27471340	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.556000	0.45862	0.599000	0.29845	0.591000	0.81541	GAT		0.318	YME1L1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047306.1	NM_139312		12	40	0	0	0	1	0	12	40				
TECTB	6975	broad.mit.edu	37	10	114044312	114044312	+	Silent	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr10:114044312C>T	ENST00000369422.3	+	2	96	c.96C>T	c.(94-96)tgC>tgT	p.C32C		NM_058222.1	NP_478129.1	Q96PL2	TECTB_HUMAN	tectorin beta	32	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.					anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.198)		Epithelial(162;0.0143)|all cancers(201;0.0242)		TTGTGTTTTGCTATCCCAAAA	0.458																																						ENST00000369422.3																			0				kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19						c.(94-96)tgC>tgT		tectorin beta							101.0	92.0	95.0					10																	114044312		2203	4300	6503	SO:0001819	synonymous_variant	6975					anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr10:114044312C>T	AF312827	CCDS7571.1	10q25-q26	2005-06-09			ENSG00000119913	ENSG00000119913			11721	protein-coding gene	gene with protein product		602653				9079715	Standard	NM_058222		Approved		uc001kzr.1	Q96PL2	OTTHUMG00000019056	ENST00000369422.3:c.96C>T	10.37:g.114044312C>T							p.C32C	NM_058222.1	NP_478129.1	Q96PL2	TECTB_HUMAN		Epithelial(162;0.0143)|all cancers(201;0.0242)	2	96	+		Colorectal(252;0.198)	32			ZP.		Q5VW53	Silent	SNP	ENST00000369422.3	37	c.96C>T	CCDS7571.1																																																																																				0.458	TECTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050381.1	NM_058222		10	86	0	0	0	1	0	10	86				
CDK5RAP2	55755	broad.mit.edu	37	9	123253705	123253705	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr9:123253705C>A	ENST00000349780.4	-	13	1541	c.1362G>T	c.(1360-1362)gaG>gaT	p.E454D	CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.E454D|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.E454D|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.E454D	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	454					brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						CCATTGCTTTCTCTCTTTCAT	0.313																																						ENST00000349780.4																			0				breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						c.(1360-1362)gaG>gaT		CDK5 regulatory subunit associated protein 2							167.0	144.0	152.0					9																	123253705		2202	4299	6501	SO:0001583	missense	55755				brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding	g.chr9:123253705C>A	BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"""centrosomin"""	608201	"""microcephaly, primary autosomal recessive 3"""	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.1362G>T	9.37:g.123253705C>A	ENSP00000343818:p.Glu454Asp					CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.E454D|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.E454D|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.E454D	p.E454D	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN			13	1541	-			454					Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Missense_Mutation	SNP	ENST00000349780.4	37	c.1362G>T	CCDS6823.1	.	.	.	.	.	.	.	.	.	.	C	12.33	1.905326	0.33628	.	.	ENSG00000136861	ENST00000360822;ENST00000359309;ENST00000349780;ENST00000360190;ENST00000345313	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	5.76	4.86	0.63082	.	0.094530	0.45867	D	0.000324	T	0.60261	0.2255	M	0.71581	2.175	0.35541	D	0.803095	D;D;D;D	0.76494	0.999;0.995;0.971;0.991	D;D;D;P	0.65684	0.937;0.914;0.937;0.822	T	0.65697	-0.6105	10	0.14656	T	0.56	.	9.8904	0.41288	0.0:0.8317:0.0:0.1683	.	255;454;454;454	Q6MZT4;Q96SN8-2;Q96SN8-4;Q96SN8	.;.;.;CK5P2_HUMAN	D	454;454;454;454;456	ENSP00000354065:E454D;ENSP00000352258:E454D;ENSP00000343818:E454D;ENSP00000353317:E454D	ENSP00000341695:E456D	E	-	3	2	CDK5RAP2	122293526	1.000000	0.71417	0.991000	0.47740	0.350000	0.29205	2.179000	0.42528	1.444000	0.47605	-0.142000	0.14014	GAG		0.313	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055535.1	NM_018249		5	38	1	0	0.00116845	1	0.00125394	5	38				
ORC5	5001	broad.mit.edu	37	7	103807322	103807322	+	Silent	SNP	C	C	T	rs377574889		TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr7:103807322C>T	ENST00000297431.4	-	10	1030	c.888G>A	c.(886-888)gcG>gcA	p.A296A	ORC5_ENST00000545943.1_Silent_p.A164A	NM_002553.3	NP_002544.1	O43913	ORC5_HUMAN	origin recognition complex, subunit 5	296					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)	ATP binding (GO:0005524)|DNA replication origin binding (GO:0003688)|nucleotide binding (GO:0000166)			kidney(1)|large_intestine(2)|lung(9)|pancreas(1)|upper_aerodigestive_tract(1)	14						CATGAGTATGCGCTGAGAGGC	0.358																																						ENST00000545943.1																			0				kidney(1)|large_intestine(2)|lung(9)|pancreas(1)|upper_aerodigestive_tract(1)	14						c.(490-492)gcG>gcA		origin recognition complex, subunit 5		C		0,4406		0,0,2203	94.0	98.0	96.0		888	-7.8	0.9	7		96	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	ORC5	NM_002553.3		0,1,6501	TT,TC,CC		0.0116,0.0,0.0077		296/436	103807322	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	5001				cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	cytoplasm|nuclear origin of replication recognition complex|nucleoplasm	ATP binding|DNA replication origin binding|identical protein binding	g.chr7:103807322C>T		CCDS5734.1, CCDS47681.1	7q22.1	2014-06-13	2010-10-12	2010-10-12	ENSG00000164815	ENSG00000164815			8491	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 117"""	602331	"""origin recognition complex, subunit 5 (yeast homolog)-like"", ""origin recognition complex, subunit 5-like (yeast)"", ""origin recognition complex, subunit 5 homolog (yeast)"""	ORC5L		9417919, 9829972	Standard	NM_002553		Approved	Orc5p, ORC5T, PPP1R117	uc003vcb.3	O43913	OTTHUMG00000157275	ENST00000297431.4:c.888G>A	7.37:g.103807322C>T						ORC5_ENST00000297431.4_Silent_p.A296A	p.A164A			O43913	ORC5_HUMAN			11	1117	-			296					A4D0P8|O60590|O95268	Silent	SNP	ENST00000297431.4	37	c.492G>A	CCDS5734.1																																																																																				0.358	ORC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348286.1	NM_002553		3	67	0	0	0	1	0	3	67				
GTF3C1	2975	broad.mit.edu	37	16	27481696	27481696	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr16:27481696G>A	ENST00000356183.4	-	31	4562	c.4547C>T	c.(4546-4548)cCa>cTa	p.P1516L	GTF3C1_ENST00000561623.1_Missense_Mutation_p.P1516L	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1516					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GATGGTGCTTGGAAATCGCCA	0.498																																						ENST00000356183.4																			0				breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						c.(4546-4548)cCa>cTa		general transcription factor IIIC, polypeptide 1, alpha 220kDa							108.0	118.0	114.0					16																	27481696		2197	4300	6497	SO:0001583	missense	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27481696G>A	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.4547C>T	16.37:g.27481696G>A	ENSP00000348510:p.Pro1516Leu					GTF3C1_ENST00000561623.1_Missense_Mutation_p.P1516L	p.P1516L	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN			31	4562	-			1516					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	37	c.4547C>T	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	G	31	5.073239	0.94000	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.27720	1.65	5.57	5.57	0.84162	.	0.057360	0.64402	D	0.000001	T	0.59824	0.2222	M	0.78637	2.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.62464	-0.6849	10	0.66056	D	0.02	-20.5513	19.1631	0.93543	0.0:0.0:1.0:0.0	.	1516;1516	Q12789;Q12789-3	TF3C1_HUMAN;.	L	1516;1512	ENSP00000348510:P1516L	ENSP00000348510:P1516L	P	-	2	0	GTF3C1	27389197	1.000000	0.71417	0.913000	0.36048	0.989000	0.77384	8.244000	0.89823	2.618000	0.88619	0.591000	0.81541	CCA		0.498	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		3	138	0	0	0	1	0	3	138				
NOB1	28987	broad.mit.edu	37	16	69776454	69776454	+	Silent	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr16:69776454G>A	ENST00000268802.5	-	9	1049	c.1020C>T	c.(1018-1020)ctC>ctT	p.L340L	CTD-2033A16.3_ENST00000575838.1_RNA	NM_014062.1	NP_054781.1	Q9ULX3	NOB1_HUMAN	NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)	340					visual perception (GO:0007601)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GATCCTCGGTGAGATGGGGGT	0.567																																						ENST00000268802.5																			0				breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(1018-1020)ctC>ctT		NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)							68.0	71.0	70.0					16																	69776454		2198	4300	6498	SO:0001819	synonymous_variant	28987					nucleus	metal ion binding|protein binding	g.chr16:69776454G>A	AB026125	CCDS10884.1	16q22.1	2008-02-05	2006-04-20	2006-04-20	ENSG00000141101	ENSG00000141101			29540	protein-coding gene	gene with protein product	"""nin one binding protein"""	613586	"""PSMD8 binding protein 1"""	PSMD8BP1		16172919	Standard	NM_014062		Approved	NOB1P, ART-4, MST158	uc002exs.4	Q9ULX3	OTTHUMG00000137576	ENST00000268802.5:c.1020C>T	16.37:g.69776454G>A						CTD-2033A16.3_ENST00000575838.1_RNA	p.L340L	NM_014062.1	NP_054781.1	Q9ULX3	NOB1_HUMAN			9	1049	-			340					Q7L6B7|Q7M4M4|Q7Z4B5|Q9NWB0	Silent	SNP	ENST00000268802.5	37	c.1020C>T	CCDS10884.1																																																																																				0.567	NOB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268958.2	NM_014062		10	85	0	0	0	1	0	10	85				
MSH6	2956	broad.mit.edu	37	2	48032817	48032817	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr2:48032817C>A	ENST00000234420.5	+	7	3769	c.3617C>A	c.(3616-3618)gCa>gAa	p.A1206E	MSH6_ENST00000538136.1_Missense_Mutation_p.A904E|MSH6_ENST00000540021.1_Missense_Mutation_p.A1076E|FBXO11_ENST00000405808.1_Intron	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	1206					ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CATGCAACAGCACATTCTCTG	0.294			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000234420.4			yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	"""Mis, N, F, S"""	mutS homolog 6 (E. coli)			E		"""colorectal, endometrial, ovarian"""	colorectal		2	Whole gene deletion(2)	p.0?(2)	haematopoietic_and_lymphoid_tissue(2)	breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229						c.(3616-3618)gCa>gAa	Mismatch excision repair (MMR)	mutS homolog 6							93.0	96.0	95.0					2																	48032817		2203	4300	6503	SO:0001583	missense	2956	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	g.chr2:48032817C>A	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"""mutS (E. coli) homolog 6"", ""mutS homolog 6 (E. coli)"""	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.3617C>A	2.37:g.48032817C>A	ENSP00000234420:p.Ala1206Glu					MSH6_ENST00000540021.1_Missense_Mutation_p.A1076E|MSH6_ENST00000538136.1_Missense_Mutation_p.A904E|FBXO11_ENST00000405808.1_Intron	p.A1206E	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		7	3769	+		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	1206					B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Missense_Mutation	SNP	ENST00000234420.5	37	c.3617C>A	CCDS1836.1	.	.	.	.	.	.	.	.	.	.	C	6.048	0.377163	0.11466	.	.	ENSG00000116062	ENST00000234420;ENST00000543270;ENST00000540021;ENST00000538136	D;D;D	0.84516	-1.86;-1.86;-1.86	4.81	3.86	0.44501	DNA mismatch repair protein MutS, C-terminal (2);	0.265617	0.42548	D	0.000682	T	0.62454	0.2429	N	0.03177	-0.4	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.002	T	0.60332	-0.7284	10	0.05436	T	0.98	-12.0813	10.4484	0.44507	0.3885:0.6115:0.0:0.0	.	1076;1206	B4DF41;P52701	.;MSH6_HUMAN	E	1206;172;1076;904	ENSP00000234420:A1206E;ENSP00000446475:A1076E;ENSP00000438580:A904E	ENSP00000234420:A1206E	A	+	2	0	MSH6	47886321	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	2.539000	0.45718	2.506000	0.84524	0.462000	0.41574	GCA		0.294	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251180.4	NM_000179		33	41	1	0	1.04352e-10	1	1.27541e-10	33	41				
TMEM187	8269	broad.mit.edu	37	X	153247610	153247610	+	Missense_Mutation	SNP	G	G	T	rs139864308	byFrequency	TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chrX:153247610G>T	ENST00000369982.4	+	2	844	c.97G>T	c.(97-99)Gtg>Ttg	p.V33L	MIR3202-1_ENST00000580198.1_RNA	NM_003492.2	NP_003483.1	Q14656	TM187_HUMAN	transmembrane protein 187	33						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				breast(1)|large_intestine(1)|lung(1)|prostate(2)	5	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGTGTTTCCGTGCAAGTGGG	0.637													G||||G|||	1|1	0.000264901|0.000264901	0.0|0.0	0.0014|0.0014	3775|3775	,|,	,|,		13383|13383	0.0|0.0		0.0|0.0	False|False		,,,|,,,				2504|2504	0.0|0.0					ENST00000369982.4																			0				breast(1)|large_intestine(1)|lung(1)|prostate(2)	5						c.(97-99)Gtg>Ttg		transmembrane protein 187							60.0	61.0	61.0					X																	153247610		2203	4300	6503	SO:0001583	missense	8269					integral to membrane|transport vesicle		g.chrX:153247610G>T	X92475	CCDS14739.1	Xq28	2007-03-14	2007-03-14	2007-03-14	ENSG00000177854	ENSG00000177854			13705	protein-coding gene	gene with protein product		300059	"""chromosome X open reading frame 12"""	CXorf12		8661027	Standard	NM_003492		Approved	ITBA1, DXS9878E	uc004fjq.2	Q14656	OTTHUMG00000024220	ENST00000369982.4:c.97G>T	X.37:g.153247610G>T	ENSP00000358999:p.Val33Leu						p.V33L	NM_003492.2	NP_003483.1	Q14656	TM187_HUMAN			2	844	+	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		33					B2RC47|Q6IAV7	Missense_Mutation	SNP	ENST00000369982.4	37	c.97G>T	CCDS14739.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	13.80	2.346349	0.41599	.	.	ENSG00000177854	ENST00000369982;ENST00000425274;ENST00000431598	T;T	0.32272	1.46;1.46	4.27	-0.957	0.10350	.	0.962934	0.08356	U	0.958427	T	0.32041	0.0816	M	0.76002	2.32	0.09310	N	1	P	0.37141	0.584	B	0.34180	0.177	T	0.31558	-0.9939	10	0.56958	D	0.05	.	9.3406	0.38079	0.7024:0.0:0.2976:0.0	.	33	Q14656	TM187_HUMAN	L	33	ENSP00000358999:V33L;ENSP00000390108:V33L	ENSP00000358999:V33L	V	+	1	0	TMEM187	152900804	0.001000	0.12720	0.000000	0.03702	0.009000	0.06853	0.290000	0.18975	-0.129000	0.11620	0.436000	0.28706	GTG		0.637	TMEM187-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061093.1	NM_003492		17	17	1	0	2.4624e-09	1	2.95488e-09	17	17				
RHOT1	55288	broad.mit.edu	37	17	30538143	30538143	+	Intron	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr17:30538143G>A	ENST00000333942.6	+	18	1978				RHOT1_ENST00000545287.2_Missense_Mutation_p.R583Q|RHOT1_ENST00000358365.3_Missense_Mutation_p.R615Q|RHOT1_ENST00000394692.2_Intron|RHOT1_ENST00000583994.1_Intron|RHOT1_ENST00000354266.3_Intron	NM_018307.3	NP_060777.3	Q8IXI2	MIRO1_HUMAN	ras homolog family member T1						cellular homeostasis (GO:0019725)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrion transport along microtubule (GO:0047497)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)				AGCCATGCCCGGTTACGCTGT	0.428																																						ENST00000358365.3																			0				NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						c.(1843-1845)cGg>cAg		ras homolog family member T1							158.0	145.0	149.0					17																	30538143		2203	4300	6503	SO:0001627	intron_variant	55288				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding	g.chr17:30538143G>A	AJ517412	CCDS32610.1, CCDS32611.1, CCDS32612.1, CCDS74030.1, CCDS74031.1	17q11.2-q12	2013-01-10	2012-02-27	2004-03-24		ENSG00000126858		"""EF-hand domain containing"""	21168	protein-coding gene	gene with protein product	"""mitochondrial Rho (MIRO) GTPase 1"""	613888	"""ras homolog gene family, member T1"""	ARHT1		12482879	Standard	NM_001033567		Approved	MIRO-1, FLJ11040	uc002hgw.3	Q8IXI2		ENST00000333942.6:c.1739+2815G>A	17.37:g.30538143G>A						RHOT1_ENST00000354266.3_Intron|RHOT1_ENST00000333942.6_Intron|RHOT1_ENST00000545287.2_Missense_Mutation_p.R583Q|RHOT1_ENST00000583994.1_Intron|RHOT1_ENST00000394692.2_Intron	p.R615Q	NM_001033568.1	NP_001028740.1	Q8IXI2	MIRO1_HUMAN			20	2071	+		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)	0					A4FVB6|A6NFV0|B4DG48|J9JIH9|Q6NUR3|Q6P9F8|Q6PJG1|Q6YMW8|Q86UB0|Q8IW28|Q8IXJ7|Q9H067|Q9H9N8|Q9NUZ2	Missense_Mutation	SNP	ENST00000333942.6	37	c.1844G>A	CCDS32612.1	.	.	.	.	.	.	.	.	.	.	G	14.83	2.653214	0.47362	.	.	ENSG00000126858	ENST00000358365;ENST00000354266	T	0.79247	-1.25	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.82669	0.5087	L	0.29908	0.895	0.53688	D	0.999973	D;D	0.71674	0.997;0.998	D;D	0.75484	0.964;0.986	T	0.80400	-0.1398	10	0.33940	T	0.23	-7.1946	19.9823	0.97331	0.0:0.0:1.0:0.0	.	583;615	Q8IXI2-5;Q8IXI2-3	.;.	Q	615;583	ENSP00000351132:R615Q	ENSP00000346215:R583Q	R	+	2	0	RHOT1	27562256	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.386000	0.97228	2.788000	0.95919	0.650000	0.86243	CGG		0.428	RHOT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000447097.1	NM_018307		3	149	0	0	0	1	0	3	149				
MKL1	57591	broad.mit.edu	37	22	40820338	40820338	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr22:40820338C>T	ENST00000355630.3	-	8	939	c.349G>A	c.(349-351)Gag>Aag	p.E117K	MKL1_ENST00000402042.1_Missense_Mutation_p.E117K|MKL1_ENST00000396617.3_Missense_Mutation_p.E117K|MKL1_ENST00000407029.1_Missense_Mutation_p.E117K	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	117	Mediates interaction with SCAI and ACTB. {ECO:0000250}.				negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						CTGCTGTCCTCATCGAAGGAA	0.587			T	RBM15	acute megakaryocytic leukemia																																	ENST00000396617.3				Dom	yes		22	22q13	57591	T	megakaryoblastic leukemia (translocation) 1			L	RBM15		acute megakaryocytic leukemia		0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						c.(349-351)Gag>Aag		megakaryoblastic leukemia (translocation) 1							90.0	74.0	80.0					22																	40820338		2203	4300	6503	SO:0001583	missense	57591				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity	g.chr22:40820338C>T	AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"""megakaryocytic acute leukemia"", ""myocardin-related transcription factor A"", ""basic, SAP and coiled-coil domain"""	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146	ENST00000355630.3:c.349G>A	22.37:g.40820338C>T	ENSP00000347847:p.Glu117Lys					MKL1_ENST00000402042.1_Missense_Mutation_p.E117K|MKL1_ENST00000355630.3_Missense_Mutation_p.E117K|MKL1_ENST00000407029.1_Missense_Mutation_p.E117K	p.E117K			Q969V6	MKL1_HUMAN			8	939	-			117			Mediates interaction with SCAI and ACTB (By similarity).		Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Missense_Mutation	SNP	ENST00000355630.3	37	c.349G>A	CCDS14003.1	.	.	.	.	.	.	.	.	.	.	C	37	6.267213	0.97426	.	.	ENSG00000196588	ENST00000355630;ENST00000396617;ENST00000402042;ENST00000407029	D;D;D;D	0.99850	-7.16;-7.16;-7.16;-7.16	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	D	0.99792	0.9912	M	0.76727	2.345	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.997	D;D;D	0.73380	0.955;0.98;0.98	D	0.97521	1.0073	10	0.66056	D	0.02	-37.932	20.0246	0.97519	0.0:1.0:0.0:0.0	.	117;117;117	B0QY83;E7ER32;Q969V6	.;.;MKL1_HUMAN	K	117	ENSP00000347847:E117K;ENSP00000379861:E117K;ENSP00000385584:E117K;ENSP00000385835:E117K	ENSP00000347847:E117K	E	-	1	0	MKL1	39150284	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	7.813000	0.86123	2.750000	0.94351	0.561000	0.74099	GAG		0.587	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831		3	56	0	0	0	1	0	3	56				
KIAA1024	23251	broad.mit.edu	37	15	79749416	79749416	+	Silent	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr15:79749416C>T	ENST00000305428.3	+	2	1002	c.927C>T	c.(925-927)aaC>aaT	p.N309N		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	309						integral component of membrane (GO:0016021)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						TGCCCTATAACAGCCAGTACC	0.507																																						ENST00000305428.3																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						c.(925-927)aaC>aaT		KIAA1024							132.0	141.0	138.0					15																	79749416		2196	4293	6489	SO:0001819	synonymous_variant	23251					integral to membrane		g.chr15:79749416C>T	AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.927C>T	15.37:g.79749416C>T							p.N309N	NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN			2	1002	+			309					A7MD43	Silent	SNP	ENST00000305428.3	37	c.927C>T	CCDS32306.1																																																																																				0.507	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416718.1	NM_015206		12	83	0	0	0	1	0	12	83				
SPRY1	10252	broad.mit.edu	37	4	124323146	124323146	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr4:124323146G>A	ENST00000394339.2	+	2	740	c.400G>A	c.(400-402)Gga>Aga	p.G134R	SPRY1_ENST00000339241.1_Missense_Mutation_p.G134R	NM_001258039.1|NM_005841.2	NP_001244968.1|NP_005832.1	O43609	SPY1_HUMAN	sprouty homolog 1, antagonist of FGF signaling (Drosophila)	134					epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				NS(1)|large_intestine(4)|lung(2)|ovary(1)|skin(3)	11						TTCTGAACAGGGACTGTTAGG	0.542																																						ENST00000394339.2																			0				NS(1)|large_intestine(4)|lung(2)|ovary(1)|skin(3)	11						c.(400-402)Gga>Aga		sprouty homolog 1, antagonist of FGF signaling (Drosophila)							59.0	61.0	60.0					4																	124323146		2203	4300	6503	SO:0001583	missense	10252				epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|lamellipodium|plasma membrane		g.chr4:124323146G>A	AF041037	CCDS3731.1	4q	2009-04-17	2001-11-28		ENSG00000164056	ENSG00000164056			11269	protein-coding gene	gene with protein product		602465	"""sprouty (Drosophila) homolog 1 (antagonist of FGF signaling)"""			9458049, 15962011	Standard	NM_001258038		Approved	hSPRY1	uc003ifa.4	O43609	OTTHUMG00000133071	ENST00000394339.2:c.400G>A	4.37:g.124323146G>A	ENSP00000377871:p.Gly134Arg					SPRY1_ENST00000339241.1_Missense_Mutation_p.G134R	p.G134R	NM_001258039.1|NM_005841.2	NP_001244968.1|NP_005832.1	O43609	SPY1_HUMAN			2	740	+			134					D3DNX6|Q6PNE0	Missense_Mutation	SNP	ENST00000394339.2	37	c.400G>A	CCDS3731.1	.	.	.	.	.	.	.	.	.	.	G	7.289	0.610775	0.14066	.	.	ENSG00000164056	ENST00000339241;ENST00000507703;ENST00000394339	T;T;T	0.49432	0.78;2.11;0.78	5.06	4.19	0.49359	.	0.065235	0.64402	D	0.000011	T	0.40247	0.1109	N	0.14661	0.345	0.58432	D	0.999994	D	0.54047	0.964	P	0.50860	0.652	T	0.21621	-1.0240	9	.	.	.	-16.1803	14.9998	0.71462	0.0:0.1433:0.8567:0.0	.	134	O43609	SPY1_HUMAN	R	134	ENSP00000343785:G134R;ENSP00000421036:G134R;ENSP00000377871:G134R	.	G	+	1	0	SPRY1	124542596	1.000000	0.71417	0.994000	0.49952	0.954000	0.61252	5.839000	0.69395	1.302000	0.44855	0.561000	0.74099	GGA		0.542	SPRY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256711.1			6	72	0	0	0	1	0	6	72				
ZNF396	252884	broad.mit.edu	37	18	32949435	32949435	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr18:32949435T>C	ENST00000589332.1	-	4	883	c.752A>G	c.(751-753)cAg>cGg	p.Q251R	ZNF396_ENST00000306346.1_Missense_Mutation_p.Q251R			Q96N95	ZN396_HUMAN	zinc finger protein 396	251					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|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(1)|lung(2)|pancreas(1)	7						ATCACATTTCTGTTGTTTTTT	0.398																																						ENST00000306346.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	7						c.(751-753)cAg>cGg		zinc finger protein 396							213.0	208.0	210.0					18																	32949435		2203	4300	6503	SO:0001583	missense	252884				viral reproduction	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:32949435T>C	AK055775	CCDS11913.1	18p12	2013-01-09			ENSG00000186496	ENSG00000186496		"""-"", ""Zinc fingers, C2H2-type"""	18824	protein-coding gene	gene with protein product		609600					Standard	NM_145756		Approved	ZSCAN14, FLJ31213	uc010xcf.1	Q96N95	OTTHUMG00000132562	ENST00000589332.1:c.752A>G	18.37:g.32949435T>C	ENSP00000466500:p.Gln251Arg					ZNF396_ENST00000589332.1_Missense_Mutation_p.Q251R	p.Q251R	NM_145756.2	NP_665699.1	Q96N95	ZN396_HUMAN			4	883	-			251					A1L3V0|Q8NF98|Q8TD80	Missense_Mutation	SNP	ENST00000589332.1	37	c.752A>G		.	.	.	.	.	.	.	.	.	.	T	7.388	0.630243	0.14257	.	.	ENSG00000186496	ENST00000306346;ENST00000399057	T	0.27720	1.65	4.75	3.59	0.41128	.	0.905972	0.09062	U	0.854115	T	0.17916	0.0430	N	0.08118	0	0.19575	N	0.999965	B	0.02656	0.0	B	0.01281	0.0	T	0.20806	-1.0264	10	0.72032	D	0.01	.	8.6956	0.34293	0.0:0.0918:0.0:0.9082	.	251	Q96N95-3	.	R	251	ENSP00000302310:Q251R	ENSP00000302310:Q251R	Q	-	2	0	ZNF396	31203433	0.002000	0.14202	0.797000	0.32132	0.150000	0.21749	0.854000	0.27791	0.945000	0.37605	0.528000	0.53228	CAG		0.398	ZNF396-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255766.1	NM_145756		3	103	0	0	0	1	0	3	103				
PLA2G4C	8605	broad.mit.edu	37	19	48571078	48571078	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr19:48571078C>T	ENST00000599921.1	-	13	1429	c.1072G>A	c.(1072-1074)Ggg>Agg	p.G358R	PLA2G4C_ENST00000354276.3_Missense_Mutation_p.G358R|PLA2G4C_ENST00000599111.1_Missense_Mutation_p.G368R|PLA2G4C_ENST00000596510.1_5'UTR|PLA2G4C_ENST00000413144.2_Missense_Mutation_p.G358R|CTD-2265M8.2_ENST00000596552.1_RNA			Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	358	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|parturition (GO:0007567)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		TGAGTGGTCCCCCATTCCCAC	0.532																																						ENST00000354276.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38						c.(1072-1074)Ggg>Agg		phospholipase A2, group IVC (cytosolic, calcium-independent)							334.0	328.0	330.0					19																	48571078		2203	4300	6503	SO:0001583	missense	8605				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding	g.chr19:48571078C>T	AF065214	CCDS12710.1, CCDS54286.1, CCDS59403.1	19q13.3	2008-09-19					3.1.1.4		9037	protein-coding gene	gene with protein product		603602				9705332	Standard	NM_003706		Approved	cPLA2-gamma	uc002phx.3	Q9UP65		ENST00000599921.1:c.1072G>A	19.37:g.48571078C>T	ENSP00000469473:p.Gly358Arg					PLA2G4C_ENST00000599111.1_Missense_Mutation_p.G368R|PLA2G4C_ENST00000596510.1_5'UTR|PLA2G4C_ENST00000413144.2_Missense_Mutation_p.G358R|PLA2G4C_ENST00000599921.1_Missense_Mutation_p.G358R	p.G358R	NM_001159323.1	NP_001152795.1	Q9UP65	PA24C_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)	13	1399	-		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)	358			PLA2c.		B2RB71|B4DI40|O75457|Q6IBI8|Q9UG68	Missense_Mutation	SNP	ENST00000599921.1	37	c.1072G>A	CCDS12710.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.026390	0.54683	.	.	ENSG00000105499	ENST00000354276;ENST00000413144	T;T	0.05081	3.5;3.5	2.78	2.78	0.32641	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (2);	0.202214	0.29486	U	0.012014	T	0.19725	0.0474	M	0.69823	2.125	0.34046	D	0.655589	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.16158	-1.0412	10	0.48119	T	0.1	-12.9655	9.3009	0.37845	0.0:1.0:0.0:0.0	.	368;358	B4DI40;Q9UP65	.;PA24C_HUMAN	R	358	ENSP00000346228:G358R;ENSP00000400036:G358R	ENSP00000346228:G358R	G	-	1	0	PLA2G4C	53262890	1.000000	0.71417	0.675000	0.29917	0.134000	0.20937	2.909000	0.48758	1.271000	0.44313	0.205000	0.17691	GGG		0.532	PLA2G4C-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465551.1			6	611	0	0	0	1	0	6	611				
HELZ	9931	broad.mit.edu	37	17	65184580	65184580	+	Silent	SNP	T	T	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr17:65184580T>C	ENST00000358691.5	-	12	1183	c.1017A>G	c.(1015-1017)caA>caG	p.Q339Q	HELZ_ENST00000580168.1_Silent_p.Q339Q|HELZ_ENST00000580662.1_5'Flank	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	339						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					CTAATCCATTTTGGGCCATCT	0.383																																						ENST00000358691.5																			0				NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(1015-1017)caA>caG		helicase with zinc finger							280.0	265.0	270.0					17																	65184580		1886	4109	5995	SO:0001819	synonymous_variant	9931							g.chr17:65184580T>C	D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"""Zinc fingers, CCCH-type domain containing"""	16878	protein-coding gene	gene with protein product	"""down-regulated in human cancers"""	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.1017A>G	17.37:g.65184580T>C						HELZ_ENST00000580168.1_Silent_p.Q339Q	p.Q339Q	NM_014877.3	NP_055692.2					12	1183	-	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)							I6L9H4	Silent	SNP	ENST00000358691.5	37	c.1017A>G	CCDS42374.1																																																																																				0.383	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	NM_014877		56	212	0	0	0	1	0	56	212				
ZNF556	80032	broad.mit.edu	37	19	2873557	2873557	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr19:2873557C>T	ENST00000307635.2	+	2	154	c.67C>T	c.(67-69)Cct>Tct	p.P23S	ZNF556_ENST00000586426.1_Missense_Mutation_p.P23S|AC006130.1_ENST00000579582.1_RNA	NM_024967.1	NP_079243.1	Q9HAH1	ZN556_HUMAN	zinc finger protein 556	23	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTGCTGAATCCTGCTCAGAG	0.463																																						ENST00000586426.1																			0				endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31						c.(67-69)Cct>Tct		zinc finger protein 556							193.0	172.0	179.0					19																	2873557		2203	4300	6503	SO:0001583	missense	80032				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2873557C>T	BC009374	CCDS12097.1, CCDS74254.1	19p13.3	2013-09-20			ENSG00000172000	ENSG00000172000		"""Zinc fingers, C2H2-type"", ""-"""	25669	protein-coding gene	gene with protein product						12477932	Standard	XM_005259647		Approved	FLJ11637	uc002lwp.1	Q9HAH1	OTTHUMG00000180501	ENST00000307635.2:c.67C>T	19.37:g.2873557C>T	ENSP00000302603:p.Pro23Ser					ZNF556_ENST00000307635.2_Missense_Mutation_p.P23S	p.P23S			Q9HAH1	ZN556_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	154	+			23			KRAB.		Q96GM3	Missense_Mutation	SNP	ENST00000307635.2	37	c.67C>T	CCDS12097.1	.	.	.	.	.	.	.	.	.	.	C	0.206	-1.040726	0.02013	.	.	ENSG00000172000	ENST00000307635	T	0.02280	4.36	2.55	-1.85	0.07784	Krueppel-associated box (4);	.	.	.	.	T	0.02970	0.0088	N	0.20574	0.59	0.09310	N	1	P	0.52316	0.952	P	0.55260	0.772	T	0.45234	-0.9275	9	0.35671	T	0.21	.	7.0224	0.24922	0.1843:0.2682:0.5475:0.0	.	23	Q9HAH1	ZN556_HUMAN	S	23	ENSP00000302603:P23S	ENSP00000302603:P23S	P	+	1	0	ZNF556	2824557	0.000000	0.05858	0.000000	0.03702	0.137000	0.21094	-1.528000	0.02225	-0.653000	0.05401	0.407000	0.27541	CCT		0.463	ZNF556-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451638.2	NM_024967		4	146	0	0	0	1	0	4	146				
ABHD6	57406	broad.mit.edu	37	3	58270856	58270856	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr3:58270856C>A	ENST00000478253.1	+	8	1227	c.726C>A	c.(724-726)ttC>ttA	p.F242L	ABHD6_ENST00000295962.4_Missense_Mutation_p.F242L			Q9BV23	ABHD6_HUMAN	abhydrolase domain containing 6	242					long term synaptic depression (GO:0060292)|negative regulation of cell migration (GO:0030336)|regulation of endocannabinoid signaling pathway (GO:2000124)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acylglycerol lipase activity (GO:0047372)			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	16				BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209)		ATAACAACTTCTACCGAAAGT	0.423																																						ENST00000478253.1																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	16						c.(724-726)ttC>ttA		abhydrolase domain containing 6							127.0	109.0	115.0					3																	58270856		2203	4300	6503	SO:0001583	missense	57406					integral to membrane	acylglycerol lipase activity	g.chr3:58270856C>A	AF225418	CCDS2887.1	3p21.2	2006-03-10			ENSG00000163686	ENSG00000163686		"""Abhydrolase domain containing"""	21398	protein-coding gene	gene with protein product							Standard	NM_020676		Approved		uc003djs.4	Q9BV23	OTTHUMG00000159150	ENST00000478253.1:c.726C>A	3.37:g.58270856C>A	ENSP00000420315:p.Phe242Leu					ABHD6_ENST00000295962.4_Missense_Mutation_p.F242L	p.F242L			Q9BV23	ABHD6_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209)	8	1227	+			242					B2R7Y9|Q6ZMF7	Missense_Mutation	SNP	ENST00000478253.1	37	c.726C>A	CCDS2887.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.319498	0.81469	.	.	ENSG00000163686	ENST00000478253;ENST00000295962;ENST00000511761	T;T	0.75821	-0.97;-0.97	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.76513	0.3998	L	0.39514	1.22	0.52501	D	0.999959	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.98	T	0.71297	-0.4635	10	0.15952	T	0.53	-0.0317	7.7879	0.29103	0.0:0.8033:0.0:0.1967	.	242;242	Q9BV23;F5H7L1	ABHD6_HUMAN;.	L	242	ENSP00000420315:F242L;ENSP00000295962:F242L	ENSP00000295962:F242L	F	+	3	2	ABHD6	58245896	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.711000	0.25764	2.666000	0.90696	0.655000	0.94253	TTC		0.423	ABHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353511.1	NM_020676		3	77	1	0	0.150653	1	0.152971	3	77				
HMGN2	3151	broad.mit.edu	37	1	26801118	26801118	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr1:26801118G>A	ENST00000361427.5	+	5	291	c.197G>A	c.(196-198)gGg>gAg	p.G66E	HMGN2_ENST00000493418.1_3'UTR	NM_005517.3	NP_005508.1	P05204	HMGN2_HUMAN	high mobility group nucleosomal binding domain 2	66						chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|lung(2)	3		all_cancers(24;1.9e-24)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.38e-49)|OV - Ovarian serous cystadenocarcinoma(117;5.38e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.026)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)		GGCAAGGAGGGGAATAACCCT	0.413																																						ENST00000361427.5																			0				breast(1)|lung(2)	3						c.(196-198)gGg>gAg		high mobility group nucleosomal binding domain 2							32.0	35.0	34.0					1																	26801118		2195	4296	6491	SO:0001583	missense	3151				chromatin organization|regulation of transcription, DNA-dependent	chromatin|cytoplasm|nucleus	DNA binding|protein binding	g.chr1:26801118G>A	BC081567	CCDS283.1	1p36.1	2011-07-01	2011-04-05	2002-08-16	ENSG00000198830	ENSG00000198830		"""High-mobility group / Canonical"""	4986	protein-coding gene	gene with protein product		163910	"""high-mobility group (nonhistone chromosomal) protein 17"", ""high-mobility group nucleosomal binding domain 2"""	HMG17		2037294	Standard	NM_005517		Approved		uc001bmp.4	P05204	OTTHUMG00000003555	ENST00000361427.5:c.197G>A	1.37:g.26801118G>A	ENSP00000355228:p.Gly66Glu					HMGN2_ENST00000493418.1_3'UTR	p.G66E	NM_005517.3	NP_005508.1	P05204	HMGN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.38e-49)|OV - Ovarian serous cystadenocarcinoma(117;5.38e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.026)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)	5	291	+		all_cancers(24;1.9e-24)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	66					Q0VGD5|Q6FGI5|Q96C64	Missense_Mutation	SNP	ENST00000361427.5	37	c.197G>A	CCDS283.1	.	.	.	.	.	.	.	.	.	.	G	16.68	3.191839	0.58017	.	.	ENSG00000198830	ENST00000361427	.	.	.	5.65	4.72	0.59763	.	0.591244	0.13227	U	0.403970	T	0.59459	0.2195	.	.	.	0.31110	N	0.710101	D	0.58620	0.983	P	0.52646	0.705	T	0.65030	-0.6267	8	0.66056	D	0.02	.	15.667	0.77238	0.0:0.1421:0.8579:0.0	.	66	P05204	HMGN2_HUMAN	E	66	.	ENSP00000355228:G66E	G	+	2	0	HMGN2	26673705	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.106000	0.64597	1.485000	0.48380	0.655000	0.94253	GGG		0.413	HMGN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009901.1	NM_005517		12	19	0	0	0	1	0	12	19				
MARCH6	10299	broad.mit.edu	37	5	10417514	10417514	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr5:10417514C>A	ENST00000274140.5	+	22	2413	c.2281C>A	c.(2281-2283)Cag>Aag	p.Q761K	MARCH6_ENST00000449913.2_Missense_Mutation_p.Q713K|MARCH6_ENST00000503788.1_Missense_Mutation_p.Q656K|MARCH6_ENST00000510792.1_Missense_Mutation_p.Q459K	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	761					protein K48-linked ubiquitination (GO:0070936)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						TTATCCATGGCAGGTAAATGT	0.463																																						ENST00000274140.5																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						c.(2281-2283)Cag>Aag		membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase							159.0	155.0	156.0					5																	10417514		2203	4300	6503	SO:0001583	missense	10299				protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr5:10417514C>A	AB011169	CCDS34135.1, CCDS59487.1, CCDS59488.1	5p15.2	2013-01-09	2012-02-23		ENSG00000145495	ENSG00000145495		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	30550	protein-coding gene	gene with protein product		613297	"""membrane-associated ring finger (C3HC4) 6"""			14722266	Standard	NM_001270660		Approved	TEB4, MARCH-VI, RNF176	uc003jet.2	O60337	OTTHUMG00000162027	ENST00000274140.5:c.2281C>A	5.37:g.10417514C>A	ENSP00000274140:p.Gln761Lys					MARCH6_ENST00000449913.2_Missense_Mutation_p.Q713K|MARCH6_ENST00000510792.1_Missense_Mutation_p.Q459K|MARCH6_ENST00000503788.1_Missense_Mutation_p.Q656K	p.Q761K	NM_005885.2	NP_005876.2	O60337	MARH6_HUMAN			22	2413	+			761					A5PKZ4|B4DKJ2|B4DT33|D3DTC8|O14670|Q86X77	Missense_Mutation	SNP	ENST00000274140.5	37	c.2281C>A	CCDS34135.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.287826	0.80803	.	.	ENSG00000145495	ENST00000449913;ENST00000503788;ENST00000274140;ENST00000510792	T;T;T;T	0.54866	1.59;0.55;1.59;0.55	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.65585	0.2705	M	0.83774	2.66	0.80722	D	1	D;P;B;P	0.61080	0.989;0.709;0.4;0.657	P;B;B;B	0.48921	0.595;0.181;0.146;0.126	T	0.71394	-0.4606	10	0.52906	T	0.07	-11.9678	17.5484	0.87869	0.0:1.0:0.0:0.0	.	656;713;341;761	B4DKJ2;B4DT33;B2RBJ1;O60337	.;.;.;MARH6_HUMAN	K	713;656;761;459	ENSP00000414643:Q713K;ENSP00000425930:Q656K;ENSP00000274140:Q761K;ENSP00000424512:Q459K	ENSP00000274140:Q761K	Q	+	1	0	MARCH6	10470514	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.419000	0.80179	2.584000	0.87258	0.650000	0.86243	CAG		0.463	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366919.2	NM_005885		4	109	1	0	2.7689e-08	1	3.26334e-08	4	109				
ZCCHC2	54877	broad.mit.edu	37	18	60241796	60241796	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr18:60241796A>G	ENST00000269499.5	+	13	2900	c.2482A>G	c.(2482-2484)Aca>Gca	p.T828A	ZCCHC2_ENST00000586834.1_Missense_Mutation_p.T507A	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	828						cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						TGAGAGCTGCACAGTTAACAT	0.498																																						ENST00000269499.5																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(2482-2484)Aca>Gca		zinc finger, CCHC domain containing 2							121.0	124.0	123.0					18																	60241796		2107	4236	6343	SO:0001583	missense	54877				cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding	g.chr18:60241796A>G	AB051531	CCDS45880.1	18q21.33	2012-04-19			ENSG00000141664	ENSG00000141664		"""Zinc fingers, CCHC domain containing"""	22916	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 49"""	C18orf49		11214970	Standard	NM_017742		Approved	FLJ20281, KIAA1744, FLJ20222	uc002lip.4	Q9C0B9		ENST00000269499.5:c.2482A>G	18.37:g.60241796A>G	ENSP00000269499:p.Thr828Ala					ZCCHC2_ENST00000586834.1_Missense_Mutation_p.T507A	p.T828A	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN			13	2900	+			828					B2RPG6|Q8N3S1|Q9NXF6	Missense_Mutation	SNP	ENST00000269499.5	37	c.2482A>G	CCDS45880.1	.	.	.	.	.	.	.	.	.	.	A	10.35	1.325639	0.24080	.	.	ENSG00000141664	ENST00000269499	T	0.25414	1.8	5.69	-4.88	0.03113	.	0.677026	0.14950	N	0.288970	T	0.09949	0.0244	N	0.14661	0.345	0.22541	N	0.999008	B	0.06786	0.001	B	0.04013	0.001	T	0.36866	-0.9730	10	0.13108	T	0.6	-0.944	7.7811	0.29066	0.334:0.4214:0.2445:0.0	.	828	Q9C0B9	ZCHC2_HUMAN	A	828	ENSP00000269499:T828A	ENSP00000269499:T828A	T	+	1	0	ZCCHC2	58392776	0.289000	0.24334	0.222000	0.23844	0.984000	0.73092	0.186000	0.16978	-0.420000	0.07427	0.533000	0.62120	ACA		0.498	ZCCHC2-005	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450083.1	NM_017742		31	75	0	0	0	1	0	31	75				
HHIPL1	84439	broad.mit.edu	37	14	100129224	100129224	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr14:100129224C>G	ENST00000330710.5	+	6	1612	c.1514C>G	c.(1513-1515)tCc>tGc	p.S505C	HHIPL1_ENST00000357223.2_Missense_Mutation_p.S505C	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	505					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)|membrane (GO:0016020)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|scavenger receptor activity (GO:0005044)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				CGTCTGATGTCCCTCCAAGAG	0.572																																						ENST00000330710.5																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15						c.(1513-1515)tCc>tGc		HHIP-like 1							84.0	76.0	79.0					14																	100129224		2203	4300	6503	SO:0001583	missense	84439				carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity	g.chr14:100129224C>G	AB058725	CCDS9953.1, CCDS45162.1	14q32	2008-01-16	2008-01-16	2008-01-16		ENSG00000182218			19710	protein-coding gene	gene with protein product			"""KIAA1822"""	KIAA1822			Standard	NM_032425		Approved		uc010avs.3	Q96JK4		ENST00000330710.5:c.1514C>G	14.37:g.100129224C>G	ENSP00000330601:p.Ser505Cys					HHIPL1_ENST00000357223.2_Missense_Mutation_p.S505C	p.S505C	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN			6	1612	+		Melanoma(154;0.128)	505					A2RUF8|B2RN09|Q6UXX2	Missense_Mutation	SNP	ENST00000330710.5	37	c.1514C>G	CCDS45162.1	.	.	.	.	.	.	.	.	.	.	C	17.78	3.473248	0.63737	.	.	ENSG00000182218	ENST00000330710;ENST00000357223	T;T	0.11385	2.78;2.78	4.84	4.84	0.62591	Soluble quinoprotein glucose/sorbosone dehydrogenase (1);Glucose/Sorbosone dehydrogenase (1);Six-bladed beta-propeller, TolB-like (1);	0.280386	0.34628	N	0.003801	T	0.37865	0.1019	M	0.84219	2.685	0.38266	D	0.94202	D;D	0.89917	1.0;0.998	D;D	0.79108	0.992;0.917	T	0.47058	-0.9146	10	0.59425	D	0.04	.	17.978	0.89132	0.0:1.0:0.0:0.0	.	505;505	Q96JK4;Q96JK4-2	HIPL1_HUMAN;.	C	505	ENSP00000330601:S505C;ENSP00000349757:S505C	ENSP00000330601:S505C	S	+	2	0	HHIPL1	99198977	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	4.159000	0.58157	2.255000	0.74692	0.561000	0.74099	TCC		0.572	HHIPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413811.1	XM_041566		28	47	0	0	0	1	0	28	47				
ZBTB26	57684	broad.mit.edu	37	9	125681478	125681478	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr9:125681478C>A	ENST00000373656.3	-	2	809	c.736G>T	c.(736-738)Ggc>Tgc	p.G246C	ZBTB26_ENST00000373654.1_Missense_Mutation_p.G246C	NM_020924.2	NP_065975.1	Q9HCK0	ZBT26_HUMAN	zinc finger and BTB domain containing 26	246					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)	11						TTATCACTGCCTGTATAAGAA	0.433																																						ENST00000373656.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)	11						c.(736-738)Ggc>Tgc		zinc finger and BTB domain containing 26							168.0	142.0	150.0					9																	125681478		2203	4300	6503	SO:0001583	missense	57684				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:125681478C>A	AB046792	CCDS6847.1	9q34.11	2013-01-08	2004-04-15	2004-04-16	ENSG00000171448	ENSG00000171448		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	23383	protein-coding gene	gene with protein product			"""zinc finger protein 481"""	ZNF481			Standard	NM_020924		Approved		uc004bnk.3	Q9HCK0	OTTHUMG00000020627	ENST00000373656.3:c.736G>T	9.37:g.125681478C>A	ENSP00000362760:p.Gly246Cys					ZBTB26_ENST00000373654.1_Missense_Mutation_p.G246C	p.G246C	NM_020924.2	NP_065975.1	Q9HCK0	ZBT26_HUMAN			2	809	-			246					B3KQ53|Q8WTR1	Missense_Mutation	SNP	ENST00000373656.3	37	c.736G>T	CCDS6847.1	.	.	.	.	.	.	.	.	.	.	C	11.82	1.752078	0.31046	.	.	ENSG00000171448	ENST00000373656;ENST00000373654	T;T	0.11169	2.8;2.8	5.52	5.52	0.82312	.	0.197468	0.43416	D	0.000574	T	0.11750	0.0286	L	0.42245	1.32	0.48696	D	0.999695	D	0.65815	0.995	B	0.43103	0.408	T	0.02138	-1.1207	10	0.41790	T	0.15	.	12.7596	0.57356	0.0:0.9255:0.0:0.0744	.	246	Q9HCK0	ZBT26_HUMAN	C	246	ENSP00000362760:G246C;ENSP00000362758:G246C	ENSP00000362758:G246C	G	-	1	0	ZBTB26	124721299	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.150000	0.42254	2.595000	0.87683	0.655000	0.94253	GGC		0.433	ZBTB26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053960.1	NM_020924		9	125	1	0	1.76689e-08	1	2.10117e-08	9	125				
CERK	64781	broad.mit.edu	37	22	47116101	47116101	+	Silent	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr22:47116101G>A	ENST00000216264.8	-	3	373	c.261C>T	c.(259-261)caC>caT	p.H87H	CERK_ENST00000541677.1_5'UTR	NM_022766.5	NP_073603.2	Q8TCT0	CERK1_HUMAN	ceramide kinase	87	Required for binding to sulfatide and phosphoinositides.				ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|lipid phosphorylation (GO:0046834)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ceramide kinase activity (GO:0001729)|diacylglycerol kinase activity (GO:0004143)|magnesium ion binding (GO:0000287)|NAD+ kinase activity (GO:0003951)			cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TCTTTACACAGTGAACTGCAC	0.522																																						ENST00000216264.8																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20						c.(259-261)caC>caT		ceramide kinase							70.0	61.0	64.0					22																	47116101		2203	4300	6503	SO:0001819	synonymous_variant	64781				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|ceramide metabolic process	integral to membrane of membrane fraction|membrane|nucleus	ATP binding|ceramide kinase activity|diacylglycerol kinase activity|magnesium ion binding	g.chr22:47116101G>A	AB079066	CCDS14077.1	22q13.31	2008-06-10			ENSG00000100422	ENSG00000100422			19256	protein-coding gene	gene with protein product		610307				11956206, 11258795	Standard	NM_022766		Approved	hCERK, FLJ23239, dA59H18.3, DKFZp434E0211, FLJ21430, KIAA1646, LK4, dA59H18.2	uc003bia.3	Q8TCT0	OTTHUMG00000150395	ENST00000216264.8:c.261C>T	22.37:g.47116101G>A						CERK_ENST00000541677.1_5'UTR	p.H87H	NM_022766.5	NP_073603.2	Q8TCT0	CERK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)	3	373	-		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)	87			Required for binding to sulfatide and phosphoinositides.		A0JNT4|A8K611|Q6NX59|Q9BYB3|Q9UGE5	Silent	SNP	ENST00000216264.8	37	c.261C>T	CCDS14077.1																																																																																				0.522	CERK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317924.2	NM_022766		16	23	0	0	0	1	0	16	23				
ITIH4	3700	broad.mit.edu	37	3	52858969	52858969	+	Silent	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr3:52858969C>T	ENST00000266041.4	-	7	861	c.765G>A	c.(763-765)gaG>gaA	p.E255E	ITIH4_ENST00000434759.3_Silent_p.E167E|ITIH4_ENST00000467462.1_5'Flank|ITIH4_ENST00000346281.5_Silent_p.E255E|ITIH4-AS1_ENST00000478366.1_RNA|RP5-966M1.6_ENST00000468472.1_3'UTR|ITIH4_ENST00000485816.1_Silent_p.E255E|ITIH4_ENST00000406595.1_Silent_p.E255E	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	255					acute-phase response (GO:0006953)|hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)|response to cytokine (GO:0034097)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		AGTAGCCGTTCTCGATCTGTG	0.537																																						ENST00000266041.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30						c.(763-765)gaG>gaA		inter-alpha-trypsin inhibitor heavy chain family, member 4							87.0	80.0	83.0					3																	52858969		2203	4300	6503	SO:0001819	synonymous_variant	3700				acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:52858969C>T	D38535	CCDS2865.1, CCDS54596.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055955	ENSG00000055955			6169	protein-coding gene	gene with protein product	"""plasma Kallikrein-sensitive glycoprotein"""	600564	"""inter-alpha (globulin) inhibitor H4 (plasma Kallikrein-sensitive glycoprotein)"""	ITIHL1		9480842, 7805892	Standard	NM_002218		Approved	IHRP, H4P	uc003dfz.3	Q14624	OTTHUMG00000159023	ENST00000266041.4:c.765G>A	3.37:g.52858969C>T						ITIH4_ENST00000485816.1_Silent_p.E255E|ITIH4_ENST00000434759.3_Silent_p.E167E|ITIH4_ENST00000346281.5_Silent_p.E255E|ITIH4-AS1_ENST00000478366.1_RNA|ITIH4_ENST00000406595.1_Silent_p.E255E	p.E255E	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)	7	861	-			255					B7Z545|E9PGN5|Q15135|Q9P190|Q9UQ54	Silent	SNP	ENST00000266041.4	37	c.765G>A	CCDS2865.1	.	.	.	.	.	.	.	.	.	.	C	5.442	0.266638	0.10294	.	.	ENSG00000055955	ENST00000441637	T	0.01902	4.57	5.6	4.72	0.59763	.	0.302294	0.28778	N	0.014179	T	0.05593	0.0147	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41197	-0.9522	7	0.42905	T	0.14	-42.6212	9.7155	0.40272	0.0:0.6833:0.2426:0.0741	.	.	.	.	K	113	ENSP00000395634:E113K	ENSP00000395634:E113K	E	-	1	0	ITIH4	52834009	0.990000	0.36364	0.999000	0.59377	0.643000	0.38383	0.371000	0.20450	1.380000	0.46344	0.561000	0.74099	GAA		0.537	ITIH4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317715.1	NM_002218		6	9	0	0	0	1	0	6	9				
ZNF749	388567	broad.mit.edu	37	19	57956390	57956390	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr19:57956390G>A	ENST00000334181.4	+	3	2124	c.1874G>A	c.(1873-1875)tGt>tAt	p.C625Y	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	625					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		AGATATCGCTGTACACTGAGT	0.353																																						ENST00000334181.4																			0				breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13						c.(1873-1875)tGt>tAt		zinc finger protein 749							62.0	65.0	64.0					19																	57956390		2203	4300	6503	SO:0001583	missense	388567				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57956390G>A	AK122740	CCDS33132.2	19q13.43	2013-01-08			ENSG00000186230	ENSG00000186230		"""Zinc fingers, C2H2-type"", ""-"""	32783	protein-coding gene	gene with protein product							Standard	NM_001023561		Approved	FLJ16360	uc002qoq.2	O43361	OTTHUMG00000150372	ENST00000334181.4:c.1874G>A	19.37:g.57956390G>A	ENSP00000333980:p.Cys625Tyr					AC004076.9_ENST00000596831.1_Intron	p.C625Y	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)	3	2124	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	625						Missense_Mutation	SNP	ENST00000334181.4	37	c.1874G>A	CCDS33132.2	.	.	.	.	.	.	.	.	.	.	G	11.94	1.787883	0.31593	.	.	ENSG00000186230	ENST00000334181	T	0.14391	2.51	2.36	-0.0525	0.13822	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04952	0.0133	N	0.02286	-0.61	0.09310	N	1	B	0.10296	0.003	B	0.01281	0.0	T	0.37572	-0.9700	9	0.48119	T	0.1	.	5.7738	0.18267	0.0:0.6603:0.2097:0.13	.	625	O43361	ZN749_HUMAN	Y	625	ENSP00000333980:C625Y	ENSP00000333980:C625Y	C	+	2	0	ZNF749	62648202	0.000000	0.05858	0.000000	0.03702	0.288000	0.27193	-2.524000	0.00948	-0.072000	0.12864	0.313000	0.20887	TGT		0.353	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317879.1	NM_001023561		3	88	0	0	0	1	0	3	88				
ZNF256	10172	broad.mit.edu	37	19	58452560	58452560	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr19:58452560C>A	ENST00000282308.3	-	3	1812	c.1616G>T	c.(1615-1617)aGa>aTa	p.R539I	ZNF256_ENST00000598928.1_3'UTR	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	539					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|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)			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		GGTGTGACTTCTCCTATGTCT	0.463																																					NSCLC(55;1313 1552 8040 11996)	ENST00000282308.3																			0				endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1615-1617)aGa>aTa		zinc finger protein 256							68.0	59.0	62.0					19																	58452560		2203	4300	6503	SO:0001583	missense	10172				multicellular organismal development|negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58452560C>A	AF067165	CCDS12966.1	19q13	2013-01-08				ENSG00000152454		"""Zinc fingers, C2H2-type"", ""-"""	13049	protein-coding gene	gene with protein product		606956					Standard	NM_005773		Approved	BMZF-3	uc002qqu.3	Q9Y2P7		ENST00000282308.3:c.1616G>T	19.37:g.58452560C>A	ENSP00000282308:p.Arg539Ile					ZNF256_ENST00000598928.1_3'UTR	p.R539I	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)	3	1812	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	539					B2RA92|Q53Y85|Q9BV71	Missense_Mutation	SNP	ENST00000282308.3	37	c.1616G>T	CCDS12966.1	.	.	.	.	.	.	.	.	.	.	.	17.09	3.299720	0.60195	.	.	ENSG00000152454	ENST00000282308	T	0.24908	1.83	2.84	0.461	0.16689	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.46132	0.1377	M	0.80616	2.505	0.09310	N	1	D	0.89917	1.0	D	0.71184	0.972	T	0.22243	-1.0222	9	0.59425	D	0.04	.	6.2802	0.21003	0.0:0.6942:0.189:0.1168	.	539	Q9Y2P7	ZN256_HUMAN	I	539	ENSP00000282308:R539I	ENSP00000282308:R539I	R	-	2	0	ZNF256	63144372	0.000000	0.05858	0.001000	0.08648	0.737000	0.42083	-0.128000	0.10531	0.056000	0.16144	0.467000	0.42956	AGA		0.463	ZNF256-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466702.1			8	76	1	0	0.0381472	1	0.0396491	8	76				
SGIP1	84251	broad.mit.edu	37	1	67101650	67101650	+	Silent	SNP	C	C	T	rs534433911		TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr1:67101650C>T	ENST00000371037.4	+	4	200	c.123C>T	c.(121-123)ccC>ccT	p.P41P	SGIP1_ENST00000468286.1_Intron|SGIP1_ENST00000237247.6_Intron|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000371035.3_Intron	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	41					endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						ACGAACCACCCTACAATAGCA	0.373																																						ENST00000371037.4																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						c.(121-123)ccC>ccT		SH3-domain GRB2-like (endophilin) interacting protein 1							99.0	100.0	99.0					1																	67101650		2203	4300	6503	SO:0001819	synonymous_variant	84251				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding	g.chr1:67101650C>T	AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.123C>T	1.37:g.67101650C>T						SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000237247.6_Intron|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000468286.1_Intron	p.P41P	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN			4	200	+			41					A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Silent	SNP	ENST00000371037.4	37	c.123C>T	CCDS30744.1																																																																																				0.373	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	NM_032291		8	75	0	0	0	1	0	8	75				
NRDE2	55051	broad.mit.edu	37	14	90756689	90756689	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr14:90756689G>A	ENST00000354366.3	-	10	2337	c.2105C>T	c.(2104-2106)aCc>aTc	p.T702I	NRDE2_ENST00000357904.3_Missense_Mutation_p.T471I	NM_017970.3	NP_060440.2	Q9H7Z3	NRDE2_HUMAN	NRDE-2, necessary for RNA interference, domain containing	702																	CTGACCCCTGGTCCAGCGAGG	0.502																																						ENST00000354366.3																			0											c.(2104-2106)aCc>aTc		NRDE-2, necessary for RNA interference, domain containing							72.0	67.0	69.0					14																	90756689		2203	4300	6503	SO:0001583	missense	55051							g.chr14:90756689G>A	AK000870	CCDS9890.1	14q32.11	2012-12-14	2012-09-25	2012-09-25	ENSG00000119720	ENSG00000119720			20186	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 102"""	C14orf102			Standard	NM_017970		Approved	FLJ14051	uc001xyi.2	Q9H7Z3	OTTHUMG00000171020	ENST00000354366.3:c.2105C>T	14.37:g.90756689G>A	ENSP00000346335:p.Thr702Ile					NRDE2_ENST00000357904.3_Missense_Mutation_p.T471I	p.T702I	NM_017970.3	NP_060440.2					10	2337	-								B4DH71|Q4G0A7|Q9NWH6	Missense_Mutation	SNP	ENST00000354366.3	37	c.2105C>T	CCDS9890.1	.	.	.	.	.	.	.	.	.	.	G	10.02	1.235907	0.22626	.	.	ENSG00000119720	ENST00000354366;ENST00000357904	T;T	0.32988	1.43;1.43	5.91	1.8	0.24995	.	0.653677	0.16763	N	0.200547	T	0.22205	0.0535	L	0.51422	1.61	0.09310	N	1	B	0.21147	0.052	B	0.17979	0.02	T	0.14035	-1.0487	10	0.29301	T	0.29	-11.8845	3.8662	0.09018	0.0783:0.3402:0.3293:0.2522	.	702	Q9H7Z3	CN102_HUMAN	I	702;471	ENSP00000346335:T702I;ENSP00000350579:T471I	ENSP00000346335:T702I	T	-	2	0	C14orf102	89826442	0.010000	0.17322	0.917000	0.36280	0.852000	0.48524	0.341000	0.19909	0.813000	0.34350	0.655000	0.94253	ACC		0.502	NRDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411264.1	NM_017970		6	35	0	0	0	1	0	6	35				
RANBP2	5903	broad.mit.edu	37	2	109367746	109367746	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr2:109367746C>A	ENST00000283195.6	+	10	1426	c.1300C>A	c.(1300-1302)Ctt>Att	p.L434I		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	434					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TAATGGTAGTCTTCAGCACCT	0.383																																						ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(1300-1302)Ctt>Att		RAN binding protein 2							68.0	83.0	78.0					2																	109367746		1462	2663	4125	SO:0001583	missense	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109367746C>A	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.1300C>A	2.37:g.109367746C>A	ENSP00000283195:p.Leu434Ile						p.L434I	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			10	1426	+			434					Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.1300C>A	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	C	17.05	3.290726	0.59976	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	D	0.90732	-2.72	5.08	5.08	0.68730	.	.	.	.	.	D	0.94951	0.8367	M	0.66939	2.045	0.29239	N	0.872745	D	0.76494	0.999	D	0.78314	0.991	D	0.91255	0.5032	9	0.87932	D	0	-20.5611	18.8314	0.92141	0.0:1.0:0.0:0.0	.	434	P49792	RBP2_HUMAN	I	434	ENSP00000283195:L434I	ENSP00000283195:L434I	L	+	1	0	RANBP2	108734178	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.189000	0.50965	2.521000	0.84997	0.650000	0.86243	CTT		0.383	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		4	99	1	0	1.23904e-05	1	1.38604e-05	4	99				
CCDC151	115948	broad.mit.edu	37	19	11537536	11537536	+	Silent	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr19:11537536G>A	ENST00000356392.4	-	5	768	c.681C>T	c.(679-681)acC>acT	p.T227T	CCDC151_ENST00000586836.1_Silent_p.T36T|CCDC151_ENST00000545100.1_Silent_p.T173T|CCDC151_ENST00000591179.1_Intron	NM_145045.4	NP_659482.3	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	227										endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						GGTACACGCTGGTAATGTGCT	0.622																																						ENST00000356392.4																			0				endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						c.(679-681)acC>acT		coiled-coil domain containing 151							66.0	68.0	68.0					19																	11537536		2092	4227	6319	SO:0001819	synonymous_variant	115948							g.chr19:11537536G>A		CCDS42501.1	19p13.2	2014-02-20				ENSG00000198003			28303	protein-coding gene	gene with protein product		615956				24067530	Standard	NM_145045		Approved	MGC20983	uc002mrs.3	A5D8V7		ENST00000356392.4:c.681C>T	19.37:g.11537536G>A						CCDC151_ENST00000586836.1_Silent_p.T36T|CCDC151_ENST00000591179.1_Intron|CCDC151_ENST00000545100.1_Silent_p.T173T	p.T227T	NM_145045.4	NP_659482.3	A5D8V7	CC151_HUMAN			5	768	-			227					B4DXT0|Q96CG5	Silent	SNP	ENST00000356392.4	37	c.681C>T	CCDS42501.1																																																																																				0.622	CCDC151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458800.1	NM_145045		11	23	0	0	0	1	0	11	23				
IPCEF1	26034	broad.mit.edu	37	6	154587060	154587060	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr6:154587060C>T	ENST00000265198.4	-	3	177	c.22G>A	c.(22-24)Gat>Aat	p.D8N	IPCEF1_ENST00000422970.2_Missense_Mutation_p.D8N|IPCEF1_ENST00000367220.4_Missense_Mutation_p.D8N	NM_001130700.1|NM_015553.2	NP_001124172.1|NP_056368.1	Q8WWN9	ICEF1_HUMAN	interaction protein for cytohesin exchange factors 1	8					oxidation-reduction process (GO:0055114)|oxygen transport (GO:0015671)|positive regulation of GTP catabolic process (GO:0033126)|response to oxidative stress (GO:0006979)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	oxygen transporter activity (GO:0005344)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	12						GCACTGCCATCAATAGCCATG	0.323																																						ENST00000265198.4																			0				breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	12						c.(22-24)Gat>Aat		interaction protein for cytohesin exchange factors 1							150.0	155.0	153.0					6																	154587060		2203	4300	6503	SO:0001583	missense	26034							g.chr6:154587060C>T	AB007863	CCDS5245.1, CCDS47509.1	6q25.2	2013-01-10			ENSG00000074706	ENSG00000074706		"""Pleckstrin homology (PH) domain containing"""	21204	protein-coding gene	gene with protein product	"""phosphoinositide binding protein PIP3-E"""					11804589, 19756519	Standard	NM_001130699		Approved	PIP3-E, KIAA0403	uc021zhc.1	Q8WWN9	OTTHUMG00000015872	ENST00000265198.4:c.22G>A	6.37:g.154587060C>T	ENSP00000265198:p.Asp8Asn					IPCEF1_ENST00000422970.2_Missense_Mutation_p.D8N|IPCEF1_ENST00000367220.4_Missense_Mutation_p.D8N	p.D8N	NM_001130700.1|NM_015553.2	NP_001124172.1|NP_056368.1					3	177	-								A8K1K2|B7ZL78|B7ZL80|O43153|Q5HYL8	Missense_Mutation	SNP	ENST00000265198.4	37	c.22G>A	CCDS5245.1	.	.	.	.	.	.	.	.	.	.	C	12.07	1.826830	0.32329	.	.	ENSG00000074706	ENST00000265198;ENST00000422970;ENST00000367220;ENST00000520261	T;T;T	0.14893	2.54;2.47;2.47	4.68	3.81	0.43845	.	0.598725	0.16497	N	0.211829	T	0.04137	0.0115	L	0.29908	0.895	0.80722	D	1	B;B	0.19073	0.007;0.033	B;B	0.15052	0.002;0.012	T	0.23440	-1.0188	10	0.16896	T	0.51	-4.8296	8.4129	0.32655	0.0:0.8943:0.0:0.1057	.	8;8	Q8WWN9;Q8WWN9-2	ICEF1_HUMAN;.	N	8	ENSP00000265198:D8N;ENSP00000394751:D8N;ENSP00000356189:D8N	ENSP00000265198:D8N	D	-	1	0	IPCEF1	154628752	0.447000	0.25673	0.407000	0.26434	0.893000	0.52053	1.977000	0.40589	1.188000	0.43014	0.655000	0.94253	GAT		0.323	IPCEF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042789.2	NM_001130699		4	145	0	0	0	1	0	4	145				
MRPL10	124995	broad.mit.edu	37	17	45904504	45904504	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr17:45904504C>T	ENST00000351111.2	-	3	294	c.289G>A	c.(289-291)Gcc>Acc	p.A97T	MRPL10_ENST00000290208.7_Missense_Mutation_p.A107T|MRPL10_ENST00000414011.1_Missense_Mutation_p.A107T	NM_145255.3	NP_660298.2	Q7Z7H8	RM10_HUMAN	mitochondrial ribosomal protein L10	97					ribosome biogenesis (GO:0042254)|translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(3)|large_intestine(1)|lung(3)|ovary(1)	8						TGGCAGACGGCTATCATTCGG	0.522																																						ENST00000290208.7																			0				endometrium(3)|large_intestine(1)|lung(3)|ovary(1)	8						c.(319-321)Gcc>Acc		mitochondrial ribosomal protein L10							115.0	100.0	105.0					17																	45904504		2203	4300	6503	SO:0001583	missense	124995				ribosome biogenesis|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome	g.chr17:45904504C>T	AB051618	CCDS11516.1, CCDS11517.1	17q21.3	2012-09-13			ENSG00000159111	ENSG00000159111		"""Mitochondrial ribosomal proteins / large subunits"""	14055	protein-coding gene	gene with protein product	"""39S ribosomal protein L10, mitochondrial"""	611825				11551941	Standard	NM_148887		Approved	RPML8, MRP-L8, L10MT, MRP-L10, MRPL8, MGC17973	uc002ily.3	Q7Z7H8	OTTHUMG00000156302	ENST00000351111.2:c.289G>A	17.37:g.45904504C>T	ENSP00000324100:p.Ala97Thr					MRPL10_ENST00000351111.2_Missense_Mutation_p.A97T|MRPL10_ENST00000414011.1_Missense_Mutation_p.A107T	p.A107T			Q7Z7H8	RM10_HUMAN			3	771	-			97					A6NGJ4|Q96B80|Q96Q55	Missense_Mutation	SNP	ENST00000351111.2	37	c.319G>A	CCDS11516.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.878108	0.91664	.	.	ENSG00000159111	ENST00000351111;ENST00000290208;ENST00000414011	T;T;T	0.45668	0.89;0.89;0.89	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.47358	0.1441	L	0.33485	1.01	0.80722	D	1	P;D	0.56521	0.513;0.976	B;P	0.52823	0.369;0.71	T	0.38112	-0.9676	10	0.48119	T	0.1	-5.7186	18.4309	0.90624	0.0:1.0:0.0:0.0	.	97;107	Q7Z7H8;A6NGJ4	RM10_HUMAN;.	T	97;107;107	ENSP00000324100:A97T;ENSP00000290208:A107T;ENSP00000395870:A107T	ENSP00000290208:A107T	A	-	1	0	MRPL10	43259503	1.000000	0.71417	0.771000	0.31576	0.498000	0.33706	7.003000	0.76310	2.657000	0.90304	0.561000	0.74099	GCC		0.522	MRPL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343764.1	NM_145255		4	532	0	0	0	1	0	4	532				
NAP1L2	4674	broad.mit.edu	37	X	72433897	72433897	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chrX:72433897G>T	ENST00000373517.3	-	1	787	c.432C>A	c.(430-432)taC>taA	p.Y144*	NAP1L2_ENST00000536638.1_Nonsense_Mutation_p.Y2*	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	144					nucleosome assembly (GO:0006334)|positive regulation of histone H3-K14 acetylation (GO:0071442)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of neuron differentiation (GO:0045666)|regulation of stem cell division (GO:2000035)	nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					GTAAGGGTTGGTACATTTCAG	0.383																																						ENST00000373517.3																			0				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29						c.(430-432)taC>taA		nucleosome assembly protein 1-like 2							165.0	157.0	160.0					X																	72433897		2203	4300	6503	SO:0001587	stop_gained	4674				nucleosome assembly	chromatin assembly complex		g.chrX:72433897G>T	AF136178	CCDS14423.1	Xq13	2008-02-05			ENSG00000186462	ENSG00000186462			7638	protein-coding gene	gene with protein product		300026				8789438	Standard	NM_021963		Approved	BPX, MGC26243	uc004ebi.3	Q9ULW6	OTTHUMG00000021827	ENST00000373517.3:c.432C>A	X.37:g.72433897G>T	ENSP00000362616:p.Tyr144*					NAP1L2_ENST00000536638.1_Nonsense_Mutation_p.Y2*	p.Y144*	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN			1	787	-	Renal(35;0.156)		144					B2RE61|B4E161|Q8TAN6	Nonsense_Mutation	SNP	ENST00000373517.3	37	c.432C>A	CCDS14423.1	.	.	.	.	.	.	.	.	.	.	g	35	5.460609	0.96240	.	.	ENSG00000186462	ENST00000373517;ENST00000536638	.	.	.	3.31	0.468	0.16732	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.3825	6.2296	0.20728	0.7494:0.0:0.2506:0.0	.	.	.	.	X	144;2	.	ENSP00000362616:Y144X	Y	-	3	2	NAP1L2	72350622	1.000000	0.71417	0.997000	0.53966	0.710000	0.40934	1.341000	0.33907	0.038000	0.15604	-0.354000	0.07668	TAC		0.383	NAP1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057225.1	NM_021963		3	91	1	0	0.00024832	1	0.000273152	3	91				
RAPH1	65059	broad.mit.edu	37	2	204356027	204356027	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr2:204356027T>G	ENST00000319170.5	-	3	435	c.136A>C	c.(136-138)Aag>Cag	p.K46Q	RAPH1_ENST00000453034.1_Missense_Mutation_p.K46Q|RAPH1_ENST00000419464.1_Missense_Mutation_p.K46Q|RAPH1_ENST00000418114.1_Missense_Mutation_p.K46Q|RAPH1_ENST00000374493.3_Missense_Mutation_p.K46Q|RAPH1_ENST00000374489.2_Missense_Mutation_p.K46Q|RAPH1_ENST00000374488.2_Missense_Mutation_p.K46Q|RAPH1_ENST00000457812.1_Missense_Mutation_p.K46Q|RAPH1_ENST00000308091.4_Missense_Mutation_p.K46Q|RAPH1_ENST00000423104.1_Missense_Mutation_p.K46Q|RAPH1_ENST00000439222.1_Missense_Mutation_p.K46Q	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	46					axon extension (GO:0048675)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TCCATGGGCTTGTCAGAATCC	0.318																																						ENST00000319170.5																			0				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(136-138)Aag>Cag		Ras association (RalGDS/AF-6) and pleckstrin homology domains 1							105.0	106.0	105.0					2																	204356027		2203	4300	6503	SO:0001583	missense	65059				cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane		g.chr2:204356027T>G	AJ584699	CCDS2359.1, CCDS2360.1	2q33	2013-01-10	2003-11-25	2003-11-26	ENSG00000173166	ENSG00000173166		"""Pleckstrin homology (PH) domain containing"""	14436	protein-coding gene	gene with protein product	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 18"""	609035	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 9"""	ALS2CR9, ALS2CR18			Standard	NM_203365		Approved	KIAA1681	uc002vad.3	Q70E73	OTTHUMG00000132876	ENST00000319170.5:c.136A>C	2.37:g.204356027T>G	ENSP00000316543:p.Lys46Gln					RAPH1_ENST00000457812.1_Missense_Mutation_p.K46Q|RAPH1_ENST00000453034.1_Missense_Mutation_p.K46Q|RAPH1_ENST00000374489.2_Missense_Mutation_p.K46Q|RAPH1_ENST00000374488.2_Missense_Mutation_p.K46Q|RAPH1_ENST00000374493.3_Missense_Mutation_p.K46Q|RAPH1_ENST00000308091.4_Missense_Mutation_p.K46Q|RAPH1_ENST00000439222.1_Missense_Mutation_p.K46Q|RAPH1_ENST00000419464.1_Missense_Mutation_p.K46Q|RAPH1_ENST00000418114.1_Missense_Mutation_p.K46Q|RAPH1_ENST00000423104.1_Missense_Mutation_p.K46Q	p.K46Q	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN			3	435	-			46					Q96Q37|Q9C0I2	Missense_Mutation	SNP	ENST00000319170.5	37	c.136A>C	CCDS2359.1	.	.	.	.	.	.	.	.	.	.	T	12.93	2.084160	0.36758	.	.	ENSG00000173166	ENST00000457812;ENST00000319170;ENST00000374493;ENST00000374489;ENST00000374488;ENST00000308091;ENST00000439222;ENST00000419464;ENST00000423104;ENST00000453034;ENST00000432342;ENST00000418114;ENST00000413201;ENST00000428637;ENST00000420371	T;T;T;T;T;T;T;T;T;T;T	0.47528	0.87;0.87;0.84;0.85;0.85;0.84;0.85;0.87;0.85;0.85;0.87	5.69	5.69	0.88448	.	0.115312	0.39210	N	0.001430	T	0.47097	0.1427	L	0.44542	1.39	0.39798	D	0.972534	P;P;D	0.56521	0.9;0.608;0.976	B;B;P	0.47015	0.39;0.205;0.534	T	0.44298	-0.9337	10	0.31617	T	0.26	-13.4892	15.9414	0.79756	0.0:0.0:0.0:1.0	.	46;46;46	Q70E73-6;C9K0J5;Q70E73	.;.;RAPH1_HUMAN	Q	46	ENSP00000392854:K46Q;ENSP00000316543:K46Q;ENSP00000363617:K46Q;ENSP00000363613:K46Q;ENSP00000363612:K46Q;ENSP00000311293:K46Q;ENSP00000411138:K46Q;ENSP00000390578:K46Q;ENSP00000397751:K46Q;ENSP00000406662:K46Q;ENSP00000396711:K46Q	ENSP00000311293:K46Q	K	-	1	0	RAPH1	204064272	1.000000	0.71417	1.000000	0.80357	0.302000	0.27658	5.585000	0.67497	2.171000	0.68590	0.528000	0.53228	AAG		0.318	RAPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256363.2	NM_025252		7	47	0	0	0	1	0	7	47				
SMARCA4	6597	broad.mit.edu	37	19	11098575	11098575	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr19:11098575G>C	ENST00000429416.3	+	7	1374	c.1093G>C	c.(1093-1095)Gag>Cag	p.E365Q	SMARCA4_ENST00000541122.2_Missense_Mutation_p.E365Q|SMARCA4_ENST00000413806.3_Missense_Mutation_p.E365Q|SMARCA4_ENST00000589677.1_Missense_Mutation_p.E365Q|SMARCA4_ENST00000344626.4_Missense_Mutation_p.E365Q|SMARCA4_ENST00000444061.3_Missense_Mutation_p.E365Q|SMARCA4_ENST00000590574.1_Missense_Mutation_p.E365Q|SMARCA4_ENST00000358026.2_Missense_Mutation_p.E365Q|SMARCA4_ENST00000450717.3_Missense_Mutation_p.E365Q	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	365					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CGACCCTGTGGAGATCCTGCA	0.692			"""F, N, Mis"""		NSCLC																																	ENST00000358026.2				Rec	yes		19	19p13.2	6597	"""F, N, Mis"""	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""			E			NSCLC		1	Unknown(1)	p.?(1)	lung(1)	adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163						c.(1093-1095)Gag>Cag		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4							21.0	27.0	25.0					19																	11098575		2164	4179	6343	SO:0001583	missense	6597				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11098575G>C	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.1093G>C	19.37:g.11098575G>C	ENSP00000395654:p.Glu365Gln					SMARCA4_ENST00000344626.4_Missense_Mutation_p.E365Q|SMARCA4_ENST00000413806.3_Missense_Mutation_p.E365Q|SMARCA4_ENST00000450717.3_Missense_Mutation_p.E365Q|SMARCA4_ENST00000429416.3_Missense_Mutation_p.E365Q|SMARCA4_ENST00000541122.2_Missense_Mutation_p.E365Q|SMARCA4_ENST00000444061.3_Missense_Mutation_p.E365Q|SMARCA4_ENST00000590574.1_Missense_Mutation_p.E365Q|SMARCA4_ENST00000589677.1_Missense_Mutation_p.E365Q	p.E365Q	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN			6	1377	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	365					B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.1093G>C	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	G	14.38	2.517790	0.44763	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.86769	-2.17;-2.17;-2.17;-2.17;-2.16;-2.17;-2.17	4.49	4.49	0.54785	.	0.000000	0.85682	D	0.000000	T	0.81758	0.4890	N	0.26092	0.79	0.51233	D	0.999913	P;P;P;P;P;P;P	0.42827	0.791;0.791;0.791;0.683;0.791;0.791;0.791	B;B;B;B;B;B;B	0.42916	0.373;0.373;0.373;0.402;0.299;0.373;0.373	T	0.81353	-0.0971	10	0.31617	T	0.26	-42.9749	16.1384	0.81506	0.0:0.0:1.0:0.0	.	365;365;365;365;365;365;365	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;A7E2E1;P51532	.;.;.;.;.;.;SMCA4_HUMAN	Q	365	ENSP00000395654:E365Q;ENSP00000350720:E365Q;ENSP00000343896:E365Q;ENSP00000445036:E365Q;ENSP00000392837:E365Q;ENSP00000397783:E365Q;ENSP00000414727:E365Q	ENSP00000343896:E365Q	E	+	1	0	SMARCA4	10959575	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	9.417000	0.97391	2.335000	0.79485	0.655000	0.94253	GAG		0.692	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		8	12	0	0	0	1	0	8	12				
NXPE4	54827	broad.mit.edu	37	11	114451052	114451052	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr11:114451052C>T	ENST00000375478.3	-	5	1081	c.901G>A	c.(901-903)Gtt>Att	p.V301I	NXPE4_ENST00000424261.2_Missense_Mutation_p.V17I	NM_001077639.1	NP_001071107.1	Q6UWF7	NXPE4_HUMAN	neurexophilin and PC-esterase domain family, member 4	301						extracellular vesicular exosome (GO:0070062)											TTCATTGCAACTGTTTCTTCT	0.408																																						ENST00000375478.3																			0											c.(901-903)Gtt>Att		neurexophilin and PC-esterase domain family, member 4							121.0	110.0	113.0					11																	114451052		1864	4107	5971	SO:0001583	missense	54827							g.chr11:114451052C>T	AK000134	CCDS41718.1, CCDS44737.1	11q23.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000137634	ENSG00000137634			23117	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 33"", ""family with sequence similarity 55, member D"""	C11orf33, FAM55D		20056006	Standard	NM_017678		Approved	FLJ20127	uc001ppc.3	Q6UWF7	OTTHUMG00000168291	ENST00000375478.3:c.901G>A	11.37:g.114451052C>T	ENSP00000364627:p.Val301Ile					NXPE4_ENST00000424261.2_Missense_Mutation_p.V17I	p.V301I	NM_001077639.1	NP_001071107.1					5	1081	-								Q6QDB4|Q9NXP5	Missense_Mutation	SNP	ENST00000375478.3	37	c.901G>A	CCDS41718.1	.	.	.	.	.	.	.	.	.	.	C	8.038	0.763327	0.15914	.	.	ENSG00000137634	ENST00000424261;ENST00000375478	T;T	0.13538	2.58;2.74	4.69	3.78	0.43462	.	1.115920	0.06903	N	0.806357	T	0.12433	0.0302	L	0.33485	1.01	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.08889	-1.0700	10	0.27082	T	0.32	.	10.6727	0.45768	0.0:0.9035:0.0:0.0965	.	301	Q6UWF7	FA55D_HUMAN	I	17;301	ENSP00000401503:V17I;ENSP00000364627:V301I	ENSP00000364627:V301I	V	-	1	0	FAM55D	113956262	0.000000	0.05858	0.011000	0.14972	0.312000	0.27988	0.842000	0.27627	2.588000	0.87417	0.655000	0.94253	GTT		0.408	NXPE4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399179.1	NM_017678		27	36	0	0	0	1	0	27	36				
VPS13D	55187	broad.mit.edu	37	1	12422832	12422833	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr1:12422832_12422833insC	ENST00000358136.3	+	51	10328_10329	c.10198_10199insC	c.(10198-10200)gccfs	p.A3400fs	VPS13D_ENST00000356315.4_Frame_Shift_Ins_p.A3375fs	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GGTCATCTTTGCCCCCCGTTAC	0.426																																						ENST00000358136.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(10198-10200)cccfs		vacuolar protein sorting 13 homolog D (S. cerevisiae)																																				SO:0001589	frameshift_variant	55187				protein localization			g.chr1:12422832_12422833insC	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.10204dupC	1.37:g.12422838_12422838dupC	ENSP00000350854:p.Ala3400fs					VPS13D_ENST00000356315.4_Frame_Shift_Ins_p.P3375fs	p.P3400fs	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	51	10328_10329	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	3399						Frame_Shift_Ins	INS	ENST00000358136.3	37	c.10198_10199insC	CCDS30588.1																																																																																				0.426	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		8	521						8	521	---	---	---	---
IQCC	55721	broad.mit.edu	37	1	32673442	32673443	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr1:32673442_32673443insG	ENST00000291358.6	+	5	1181_1182	c.1160_1161insG	c.(1159-1164)ttggggfs	p.LG387fs	DCDC2B_ENST00000409358.1_5'Flank|IQCC_ENST00000537469.1_Frame_Shift_Ins_p.LG467fs|RP4-622L5.7_ENST00000421616.1_RNA|RP4-622L5.7_ENST00000373604.4_RNA	NM_018134.2	NP_060604.2	Q4KMZ1	IQCC_HUMAN	IQ motif containing C	387										endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GATGGTACCTTGGGGGGGCCAG	0.55																																						ENST00000537469.1																			0				endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15						c.(1399-1401)tggfs		IQ motif containing C																																				SO:0001589	frameshift_variant	55721							g.chr1:32673442_32673443insG	AL049795	CCDS355.1, CCDS53293.1	1p36.11-p34.2	2008-02-05			ENSG00000160051	ENSG00000160051			25545	protein-coding gene	gene with protein product							Standard	NM_018134		Approved	FLJ10547	uc001bum.2	Q4KMZ1	OTTHUMG00000005739	ENST00000291358.6:c.1167dupG	1.37:g.32673449_32673449dupG	ENSP00000291358:p.Leu387fs					IQCC_ENST00000291358.6_Frame_Shift_Ins_p.W387fs	p.W467fs	NM_001160042.1	NP_001153514.1	Q4KMZ1	IQCC_HUMAN			5	1447_1448	+		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	387					F5H7T8|Q4KMS3|Q4KMZ5|Q53FL2|Q5TFJ8|Q9NVS3	Frame_Shift_Ins	INS	ENST00000291358.6	37	c.1400_1401insG	CCDS355.1																																																																																				0.550	IQCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015731.3	NM_018134		11	184						11	184	---	---	---	---
MAP7D1	55700	broad.mit.edu	37	1	36636625	36636626	+	Frame_Shift_Ins	INS	-	-	C	rs200289388		TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr1:36636625_36636626insC	ENST00000373151.2	+	2	316_317	c.100_101insC	c.(100-102)tccfs	p.S34fs	MAP7D1_ENST00000373150.4_Frame_Shift_Ins_p.S34fs|MAP7D1_ENST00000316156.4_Frame_Shift_Ins_p.S34fs	NM_018067.3	NP_060537.3	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	34	Pro-rich.				microtubule cytoskeleton organization (GO:0000226)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				AGGTGACCCTTCCCCCCCACCA	0.594																																						ENST00000316156.4																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19						c.(100-102)cccfs		MAP7 domain containing 1																																				SO:0001589	frameshift_variant	55700					cytoplasm|spindle		g.chr1:36636625_36636626insC	AK096341	CCDS30673.1, CCDS65492.1, CCDS65493.1	1p34.3	2008-02-05	2007-02-08	2007-02-08	ENSG00000116871	ENSG00000116871			25514	protein-coding gene	gene with protein product			"""proline arginine rich coiled coil 1"", ""arginine/proline rich coiled-coil 1"""	PARCC1, RPRC1		10574461	Standard	XM_005271024		Approved	FLJ10350, FLJ39022	uc001bzz.3	Q3KQU3	OTTHUMG00000007714	ENST00000373151.2:c.107dupC	1.37:g.36636632_36636632dupC	ENSP00000362244:p.Ser34fs					MAP7D1_ENST00000373150.4_Frame_Shift_Ins_p.P34fs|MAP7D1_ENST00000373151.2_Frame_Shift_Ins_p.P34fs	p.P34fs			Q3KQU3	MA7D1_HUMAN			2	553_554	+		Myeloproliferative disorder(586;0.0393)	34			Pro-rich.		D3DPS4|Q7L8J5|Q8N905|Q8TAK0|Q9HBQ2|Q9NW29|Q9ULN3	Frame_Shift_Ins	INS	ENST00000373151.2	37	c.100_101insC	CCDS30673.1																																																																																				0.594	MAP7D1-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382095.1	NM_018067		7	192						7	192	---	---	---	---
MAP7D1	55700	broad.mit.edu	37	1	36636763	36636764	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr1:36636763_36636764insC	ENST00000373151.2	+	2	454_455	c.238_239insC	c.(238-240)gccfs	p.A80fs	MAP7D1_ENST00000373150.4_Frame_Shift_Ins_p.A80fs|MAP7D1_ENST00000316156.4_Frame_Shift_Ins_p.A80fs	NM_018067.3	NP_060537.3	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	80	Pro-rich.				microtubule cytoskeleton organization (GO:0000226)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				GCCTAGGCCAGCCCCCCCGCAG	0.653																																						ENST00000316156.4																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19						c.(238-240)cccfs		MAP7 domain containing 1																																				SO:0001589	frameshift_variant	55700					cytoplasm|spindle		g.chr1:36636763_36636764insC	AK096341	CCDS30673.1, CCDS65492.1, CCDS65493.1	1p34.3	2008-02-05	2007-02-08	2007-02-08	ENSG00000116871	ENSG00000116871			25514	protein-coding gene	gene with protein product			"""proline arginine rich coiled coil 1"", ""arginine/proline rich coiled-coil 1"""	PARCC1, RPRC1		10574461	Standard	XM_005271024		Approved	FLJ10350, FLJ39022	uc001bzz.3	Q3KQU3	OTTHUMG00000007714	ENST00000373151.2:c.245dupC	1.37:g.36636770_36636770dupC	ENSP00000362244:p.Ala80fs					MAP7D1_ENST00000373150.4_Frame_Shift_Ins_p.P80fs|MAP7D1_ENST00000373151.2_Frame_Shift_Ins_p.P80fs	p.P80fs			Q3KQU3	MA7D1_HUMAN			2	691_692	+		Myeloproliferative disorder(586;0.0393)	80			Pro-rich.		D3DPS4|Q7L8J5|Q8N905|Q8TAK0|Q9HBQ2|Q9NW29|Q9ULN3	Frame_Shift_Ins	INS	ENST00000373151.2	37	c.238_239insC	CCDS30673.1																																																																																				0.653	MAP7D1-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382095.1	NM_018067		18	171						18	171	---	---	---	---
KDM4A	9682	broad.mit.edu	37	1	44156564	44156565	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr1:44156564_44156565insC	ENST00000372396.3	+	14	2220_2221	c.2086_2087insC	c.(2086-2088)gccfs	p.A696fs		NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	696					cardiac muscle hypertrophy in response to stress (GO:0014898)|histone demethylation (GO:0016577)|histone H3-K36 demethylation (GO:0070544)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|methylated histone binding (GO:0035064)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						TTCAGATTTAGCCCCCCAGAAG	0.47																																						ENST00000372396.3																			0				breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						c.(2086-2088)cccfs		lysine (K)-specific demethylase 4A																																				SO:0001589	frameshift_variant	9682				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chr1:44156564_44156565insC	AB014577	CCDS491.1	1p34.1	2013-01-23	2009-04-06	2009-04-06	ENSG00000066135	ENSG00000066135		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	22978	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 3A"", ""tudor domain containing 14A"""	609764	"""jumonji domain containing 2"", ""jumonji domain containing 2A"""	JMJD2, JMJD2A		9734811, 15138608	Standard	XM_005271354		Approved	KIAA0677, JHDM3A, TDRD14A	uc001cjx.3	O75164	OTTHUMG00000007560	ENST00000372396.3:c.2092dupC	1.37:g.44156570_44156570dupC	ENSP00000361473:p.Ala696fs						p.P696fs	NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN			14	2220_2221	+			696					Q5VVB1	Frame_Shift_Ins	INS	ENST00000372396.3	37	c.2086_2087insC	CCDS491.1																																																																																				0.470	KDM4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019960.1	NM_014663		27	1640						27	1640	---	---	---	---
FAM151A	338094	broad.mit.edu	37	1	55081756	55081757	+	Frame_Shift_Ins	INS	-	-	G	rs371885641		TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr1:55081756_55081757insG	ENST00000302250.2	-	3	511_512	c.351_352insC	c.(349-354)cccactfs	p.T118fs	FAM151A_ENST00000371304.2_Frame_Shift_Ins_p.T118fs|ACOT11_ENST00000371316.3_Intron	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	118						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.T118fs*43(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CTGTAGATAGTGGGGGGGTGTG	0.594																																						ENST00000302250.2																			1	Deletion - Frameshift(1)	p.T118fs*43(1)	ovary(1)	breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						c.(349-354)ccctatfs		family with sequence similarity 151, member A			,	13,4253		0,13,2120					,	3.2	0.2			92	8,8246		0,8,4119	no	frameshift,intron	ACOT11,FAM151A	NM_176782.2,NM_015547.3	,	0,21,6239	A1A1,A1R,RR		0.0969,0.3047,0.1677	,	,		21,12499				SO:0001589	frameshift_variant	338094					integral to membrane		g.chr1:55081756_55081757insG	AK091901	CCDS594.1	1p32.3	2008-02-05	2007-12-18	2007-12-18	ENSG00000162391	ENSG00000162391			25032	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 179"""	C1orf179		17273976	Standard	NM_176782		Approved	MGC27169	uc001cxn.3	Q8WW52	OTTHUMG00000009888	ENST00000302250.2:c.352dupC	1.37:g.55081763_55081763dupG	ENSP00000306888:p.Thr118fs					FAM151A_ENST00000371304.2_Frame_Shift_Ins_p.Y118fs|ACOT11_ENST00000371316.3_Intron	p.Y118fs	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN			3	511_512	-			118					Q5VUG5|Q6DKH5|Q6UWV0|Q8NAX9|Q96KY5	Frame_Shift_Ins	INS	ENST00000302250.2	37	c.351_352insC	CCDS594.1																																																																																				0.594	FAM151A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027342.1	NM_176782		9	162						9	162	---	---	---	---
INADL	10207	broad.mit.edu	37	1	62253579	62253580	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr1:62253579_62253580insC	ENST00000371158.2	+	8	1117_1118	c.1003_1004insC	c.(1003-1005)accfs	p.T335fs	INADL_ENST00000316485.6_Frame_Shift_Ins_p.T335fs	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	335					cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						CATTTCAGTCACCCCCCCTGCC	0.505																																						ENST00000371158.2																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						c.(1003-1005)cccfs		InaD-like (Drosophila)																																				SO:0001589	frameshift_variant	10207				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	g.chr1:62253579_62253580insC	AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.1010dupC	1.37:g.62253586_62253586dupC	ENSP00000360200:p.Thr335fs					INADL_ENST00000316485.6_Frame_Shift_Ins_p.P335fs	p.P335fs	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN			8	1117_1118	+			335					O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Frame_Shift_Ins	INS	ENST00000371158.2	37	c.1003_1004insC	CCDS617.2																																																																																				0.505	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605		7	72						7	72	---	---	---	---
GBP7	388646	broad.mit.edu	37	1	89613321	89613322	+	Frame_Shift_Ins	INS	-	-	C	rs138127555|rs185821757		TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr1:89613321_89613322insC	ENST00000294671.2	-	8	1431_1432	c.1293_1294insG	c.(1291-1296)gggcacfs	p.H432fs		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	432						membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		TAGATATTGTGCCCCCCCGGAA	0.436																																						ENST00000294671.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1291-1296)ggacaafs		guanylate binding protein 7																																				SO:0001589	frameshift_variant	388646					integral to membrane	GTP binding|GTPase activity	g.chr1:89613321_89613322insC	AK096141	CCDS720.1	1p22.2	2008-02-05			ENSG00000213512	ENSG00000213512			29606	protein-coding gene	gene with protein product		612468					Standard	NM_207398		Approved	FLJ38822, GBP4L	uc001dna.2	Q8N8V2	OTTHUMG00000010659	ENST00000294671.2:c.1294dupG	1.37:g.89613328_89613328dupC	ENSP00000294671:p.His432fs						p.Q432fs	NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN		all cancers(265;0.00835)|Epithelial(280;0.0322)	8	1431_1432	-		Lung NSC(277;0.0908)	432						Frame_Shift_Ins	INS	ENST00000294671.2	37	c.1293_1294insG	CCDS720.1																																																																																				0.436	GBP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029401.1	NM_207398		13	138						13	138	---	---	---	---
OVGP1	5016	broad.mit.edu	37	1	111959046	111959047	+	Frame_Shift_Ins	INS	-	-	C	rs552970171		TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr1:111959046_111959047insC	ENST00000369732.3	-	10	1109_1110	c.1054_1055insG	c.(1054-1056)gccfs	p.A352fs	OVGP1_ENST00000540696.1_3'UTR	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	352					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|female pregnancy (GO:0007565)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|single fertilization (GO:0007338)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|egg coat (GO:0035805)|perivitelline space (GO:0098595)	chitinase activity (GO:0004568)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		CCACACCATGGCCCCCCCAAAA	0.505																																						ENST00000369732.3																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39						c.(1054-1056)catfs		oviductal glycoprotein 1, 120kDa																																				SO:0001589	frameshift_variant	5016				chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity	g.chr1:111959046_111959047insC	U09550	CCDS834.1	1p13.2	2008-07-31	2008-07-31		ENSG00000085465	ENSG00000085465		"""Mucins"""	8524	protein-coding gene	gene with protein product	"""oviductin"""	603578	"""mucin 9"""	MUC9		7819450, 9341614	Standard	NM_002557		Approved	CHIT5	uc001eba.3	Q12889	OTTHUMG00000011746	ENST00000369732.3:c.1055dupG	1.37:g.111959053_111959053dupC	ENSP00000358747:p.Ala352fs					OVGP1_ENST00000540696.1_3'UTR	p.H352fs	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)	10	1109_1110	-		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)	352					A0AV19|B9EGE1|Q15841	Frame_Shift_Ins	INS	ENST00000369732.3	37	c.1054_1055insG	CCDS834.1																																																																																				0.505	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032461.1	NM_002557		10	247						10	247	---	---	---	---
OLFML3	56944	broad.mit.edu	37	1	114523958	114523959	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr1:114523958_114523959insC	ENST00000320334.4	+	3	862_863	c.788_789insC	c.(787-792)atccccfs	p.IP263fs	OLFML3_ENST00000393300.2_Frame_Shift_Ins_p.IP243fs|OLFML3_ENST00000491700.1_3'UTR|OLFML3_ENST00000369551.1_Frame_Shift_Ins_p.IP243fs	NM_020190.2	NP_064575.1	Q9NRN5	OLFL3_HUMAN	olfactomedin-like 3	263	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)|vesicle (GO:0031982)				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1)	14	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAGGGGCTGATCCCCCCCTACG	0.559																																						ENST00000369551.1																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1)	14						c.(727-729)accfs		olfactomedin-like 3																																				SO:0001589	frameshift_variant	56944				multicellular organismal development	extracellular region		g.chr1:114523958_114523959insC	AF201945	CCDS870.1, CCDS65618.1, CCDS72839.1	1p13.1	2008-02-05			ENSG00000116774	ENSG00000116774			24956	protein-coding gene	gene with protein product		610088					Standard	NM_001286353		Approved	HNOEL-iso, OLF44	uc001eer.1	Q9NRN5	OTTHUMG00000011980	ENST00000320334.4:c.795dupC	1.37:g.114523965_114523965dupC	ENSP00000322273:p.Ile263fs					OLFML3_ENST00000491700.1_3'UTR|OLFML3_ENST00000320334.4_Frame_Shift_Ins_p.T263fs|OLFML3_ENST00000393300.2_Frame_Shift_Ins_p.T243fs	p.T243fs			Q9NRN5	OLFL3_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	4	1016_1017	+	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	263			Olfactomedin-like.		Q53FR1|Q53HV9|Q5SQL6|Q69AX9|Q8NBJ2	Frame_Shift_Ins	INS	ENST00000320334.4	37	c.728_729insC	CCDS870.1																																																																																				0.559	OLFML3-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033119.1	NM_020190		7	106						7	106	---	---	---	---
PIAS3	10401	broad.mit.edu	37	1	145585532	145585533	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr1:145585532_145585533insG	ENST00000393045.2	+	14	1887_1888	c.1797_1798insG	c.(1798-1800)gggfs	p.G600fs	PIAS3_ENST00000369298.1_Frame_Shift_Ins_p.G565fs|NUDT17_ENST00000444015.2_5'Flank	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	600					positive regulation of gene expression (GO:0010628)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nucleus (GO:0005634)|synapse (GO:0045202)	enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|SUMO ligase activity (GO:0019789)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTGTGGCCCCTGGGGGGGCCTT	0.663																																						ENST00000393045.2																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28						c.(1795-1800)ccggggfs		protein inhibitor of activated STAT, 3				11,4249		0,11,2119						4.1	1.0			46	12,8224		0,12,4106	no	frameshift	PIAS3	NM_006099.3		0,23,6225	A1A1,A1R,RR		0.1457,0.2582,0.1841				23,12473				SO:0001589	frameshift_variant	10401				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding	g.chr1:145585532_145585533insG	AB021868	CCDS72866.1	1q21	2011-10-11			ENSG00000131788	ENSG00000131788		"""Zinc fingers, MIZ-type"""	16861	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 5"""	605987				10319586	Standard	NM_006099		Approved	FLJ14651, ZMIZ5	uc001eoc.1	Q9Y6X2	OTTHUMG00000013750	ENST00000393045.2:c.1804dupG	1.37:g.145585539_145585539dupG	ENSP00000376765:p.Gly600fs					PIAS3_ENST00000369298.1_Frame_Shift_Ins_p.PG564fs	p.PG599fs	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN			14	1887_1888	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		599					Q9UFI3	Frame_Shift_Ins	INS	ENST00000393045.2	37	c.1797_1798insG	CCDS920.2																																																																																				0.663	PIAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038533.4	NM_006099		14	184						14	184	---	---	---	---
RFX5	5993	broad.mit.edu	37	1	151318740	151318741	+	Frame_Shift_Ins	INS	-	-	G	rs548049340		TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr1:151318740_151318741insG	ENST00000290524.4	-	3	234_235	c.56_57insC	c.(55-57)ccafs	p.P19fs	RFX5_ENST00000452513.2_Frame_Shift_Ins_p.P19fs|RFX5_ENST00000368870.2_Frame_Shift_Ins_p.P19fs|RP11-126K1.6_ENST00000455503.1_RNA|RFX5_ENST00000452671.2_Frame_Shift_Ins_p.P19fs|RFX5_ENST00000478564.1_5'UTR	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	19					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CAGCACCACCTGGGGGGGCCCT	0.554																																						ENST00000290524.4																			0				endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20						c.(55-57)cggfs		regulatory factor X, 5 (influences HLA class II expression)																																				SO:0001589	frameshift_variant	5993					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:151318740_151318741insG		CCDS994.1	1q21	2014-09-17			ENSG00000143390	ENSG00000143390			9986	protein-coding gene	gene with protein product		601863				9401005	Standard	XM_005245405		Approved		uc001exw.1	P48382	OTTHUMG00000012495	ENST00000290524.4:c.57dupC	1.37:g.151318747_151318747dupG	ENSP00000290524:p.Pro19fs					RFX5_ENST00000368870.2_Frame_Shift_Ins_p.R19fs|RFX5_ENST00000478564.1_5'UTR|RFX5_ENST00000452671.2_Frame_Shift_Ins_p.R19fs|RFX5_ENST00000452513.2_Frame_Shift_Ins_p.R19fs	p.R19fs	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		3	234_235	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		19					B7Z848|D3DV19|E9PFU4|Q5VWC3	Frame_Shift_Ins	INS	ENST00000290524.4	37	c.56_57insC	CCDS994.1																																																																																				0.554	RFX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034892.6	NM_000449		7	177						7	177	---	---	---	---
FMOD	2331	broad.mit.edu	37	1	203316599	203316600	+	Frame_Shift_Ins	INS	-	-	C	rs139730140		TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr1:203316599_203316600insC	ENST00000354955.4	-	2	1262_1263	c.799_800insG	c.(799-801)gcgfs	p.A267fs	FMOD_ENST00000493296.1_Intron	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	267					carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor complex assembly (GO:0007181)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			CAGCTTGGGCGCCCCCCGGAAG	0.579																																						ENST00000354955.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17						c.(799-801)gccfs		fibromodulin																																				SO:0001589	frameshift_variant	2331				transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix		g.chr1:203316599_203316600insC	U05291	CCDS30976.1	1q32	2008-02-05			ENSG00000122176	ENSG00000122176		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	3774	protein-coding gene	gene with protein product	"""fibromodulin proteoglycan"""	600245				7851907	Standard	NM_002023		Approved	SLRR2E	uc001gzr.3	Q06828	OTTHUMG00000035910	ENST00000354955.4:c.800dupG	1.37:g.203316605_203316605dupC	ENSP00000347041:p.Ala267fs					FMOD_ENST00000464898.1_5'UTR	p.A267fs	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.171)		2	1262_1263	-			267					Q15331|Q8IV47	Frame_Shift_Ins	INS	ENST00000354955.4	37	c.799_800insG	CCDS30976.1																																																																																				0.579	FMOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087472.1	NM_002023		7	129						7	129	---	---	---	---
SRGAP3	9901	broad.mit.edu	37	3	9034599	9034600	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr3:9034599_9034600insC	ENST00000383836.3	-	20	2975_2976	c.2548_2549insG	c.(2548-2550)gtgfs	p.V850fs	SRGAP3_ENST00000360413.3_Frame_Shift_Ins_p.V826fs	NM_014850.3	NP_055665.1	O43295	SRGP3_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	850					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CCGGCCCATCACCCCCCCAAAG	0.554			T	RAF1	pilocytic astrocytoma																																	ENST00000383836.3				Dom	yes		3	3p25.3	9901	T	SLIT-ROBO Rho GTPase activating protein 3			M	RAF1		pilocytic astrocytoma	SRGAP3/RAF1(6)	0				breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(2548-2550)gatfs		SLIT-ROBO Rho GTPase activating protein 3																																				SO:0001589	frameshift_variant	9901				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr3:9034599_9034600insC	AB007871	CCDS2572.1, CCDS33689.1	3p25.3	2011-07-04	2004-11-12	2004-11-12	ENSG00000196220	ENSG00000196220		"""Rho GTPase activating proteins"""	19744	protein-coding gene	gene with protein product		606525	"""SLIT-ROBO Rho GTPase activating protein 2"""	SRGAP2		12195014	Standard	NM_014850		Approved	KIAA0411, MEGAP, WRP, ARHGAP14	uc003brf.2	O43295	OTTHUMG00000090589	ENST00000383836.3:c.2549dupG	3.37:g.9034606_9034606dupC	ENSP00000373347:p.Val850fs					SRGAP3_ENST00000360413.3_Frame_Shift_Ins_p.D826fs	p.D850fs	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0563)	20	2975_2976	-			850					Q8IX13|Q8IZV8	Frame_Shift_Ins	INS	ENST00000383836.3	37	c.2548_2549insG	CCDS2572.1																																																																																				0.554	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207137.3			9	134						9	134	---	---	---	---
SETD5	55209	broad.mit.edu	37	3	9517294	9517295	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr3:9517294_9517295insC	ENST00000406341.1	+	22	4038_4039	c.3848_3849insC	c.(3847-3852)aaccccfs	p.NP1283fs	SETD5_ENST00000402466.1_Frame_Shift_Ins_p.NP1185fs|SETD5_ENST00000302463.6_Frame_Shift_Ins_p.NP1185fs|SETD5_ENST00000407969.1_Frame_Shift_Ins_p.NP1302fs|SETD5_ENST00000402198.1_Frame_Shift_Ins_p.NP1283fs			Q9C0A6	SETD5_HUMAN	SET domain containing 5	1283	Ser-rich.									NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		AGACCTGGAAACCCCCCCTCTC	0.55																																						ENST00000402466.1																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(3553-3555)accfs		SET domain containing 5																																				SO:0001589	frameshift_variant	55209							g.chr3:9517294_9517295insC	BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.3855dupC	3.37:g.9517301_9517301dupC	ENSP00000383939:p.Asn1283fs					SETD5_ENST00000406341.1_Frame_Shift_Ins_p.T1283fs|SETD5_ENST00000402198.1_Frame_Shift_Ins_p.T1283fs|SETD5_ENST00000302463.6_Frame_Shift_Ins_p.T1185fs|SETD5_ENST00000407969.1_Frame_Shift_Ins_p.T1302fs	p.T1185fs			Q9C0A6	SETD5_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.112)	24	4322_4323	+	Medulloblastoma(99;0.227)		1283			Ser-rich.		Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Frame_Shift_Ins	INS	ENST00000406341.1	37	c.3554_3555insC	CCDS46741.1																																																																																				0.550	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	XM_371614		9	363						9	363	---	---	---	---
PBRM1	55193	broad.mit.edu	37	3	52610585	52610585	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr3:52610585delT	ENST00000296302.7	-	22	3664	c.3663delA	c.(3661-3663)gaafs	p.E1222fs	PBRM1_ENST00000409767.1_Frame_Shift_Del_p.E1237fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.E1237fs|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.E1197fs|PBRM1_ENST00000356770.4_Frame_Shift_Del_p.E1190fs|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.E1222fs|PBRM1_ENST00000394830.3_Frame_Shift_Del_p.E1197fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.E1222fs			Q86U86	PB1_HUMAN	polybromo 1	1222	BAH 2. {ECO:0000255|PROSITE- ProRule:PRU00370}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GGCAGGTTTCTTCCAGATTAC	0.378			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																	ENST00000356770.4				Rec	yes		3	3p21	55193	"""Mis, N, F, S, D, O"""	polybromo 1			E			"""clear cell renal carcinoma, breast"""		0				breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335						c.(3565-3567)gafs		polybromo 1							136.0	131.0	133.0					3																	52610585		2203	4300	6503	SO:0001589	frameshift_variant	55193				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	g.chr3:52610585delT	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.3663delA	3.37:g.52610585delT	ENSP00000296302:p.Glu1222fs					PBRM1_ENST00000337303.4_Frame_Shift_Del_p.E1222fs|PBRM1_ENST00000409767.1_Frame_Shift_Del_p.E1237fs|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.E1197fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.E1222fs|PBRM1_ENST00000296302.7_Frame_Shift_Del_p.E1222fs|PBRM1_ENST00000394830.3_Frame_Shift_Del_p.E1197fs|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.E1237fs	p.E1190fs			Q86U86	PB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	21	3569	-			1222			BAH 2.		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Del	DEL	ENST00000296302.7	37	c.3567delA																																																																																					0.378	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		26	49						26	49	---	---	---	---
EVC	2121	broad.mit.edu	37	4	5798782	5798782	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr4:5798782delG	ENST00000264956.6	+	14	2104	c.1920delG	c.(1918-1920)ctgfs	p.L642fs	EVC_ENST00000515113.1_3'UTR|EVC_ENST00000382674.2_Frame_Shift_Del_p.L642fs	NM_153717.2	NP_714928.1	P57679	EVC_HUMAN	Ellis van Creveld syndrome	642					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)				GGCATGACCTGCTGTTGCGCT	0.647																																						ENST00000382674.2																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28						c.(1918-1920)ctfs		Ellis van Creveld syndrome							43.0	43.0	43.0					4																	5798782		2202	4300	6502	SO:0001589	frameshift_variant	2121				muscle organ development	integral to membrane		g.chr4:5798782delG	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.1920delG	4.37:g.5798782delG	ENSP00000264956:p.Leu642fs					EVC_ENST00000264956.6_Frame_Shift_Del_p.L642fs|EVC_ENST00000515113.1_3'UTR	p.L642fs			P57679	EVC_HUMAN			14	2104	+		Myeloproliferative disorder(84;0.117)	642						Frame_Shift_Del	DEL	ENST00000264956.6	37	c.1920delG	CCDS3383.1																																																																																				0.647	EVC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206859.1			19	73						19	73	---	---	---	---
DCHS2	54798	broad.mit.edu	37	4	155287426	155287426	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr4:155287426delC	ENST00000357232.4	-	5	629	c.630delG	c.(628-630)gggfs	p.G210fs	DCHS2_ENST00000339452.1_Frame_Shift_Del_p.G804fs	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	210	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AAGCCACTGTCCCATATATCC	0.473																																						ENST00000357232.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(628-630)ggfs		dachsous cadherin-related 2							181.0	156.0	165.0					4																	155287426		2203	4300	6503	SO:0001589	frameshift_variant	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155287426delC	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.630delG	4.37:g.155287426delC	ENSP00000349768:p.Gly210fs					DCHS2_ENST00000339452.1_Frame_Shift_Del_p.G804fs	p.G210fs	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	5	629	-	all_hematologic(180;0.208)	Renal(120;0.0854)	210			Cadherin 2.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Frame_Shift_Del	DEL	ENST00000357232.4	37	c.630delG	CCDS3785.1																																																																																				0.473	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		7	125						7	125	---	---	---	---
TLR3	7098	broad.mit.edu	37	4	186997804	186997805	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr4:186997804_186997805insG	ENST00000296795.3	+	2	135_136	c.31_32insG	c.(31-33)tggfs	p.W11fs		NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	11					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to drug (GO:0035690)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cellular response to interferon-gamma (GO:0071346)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|detection of virus (GO:0009597)|extrinsic apoptotic signaling pathway (GO:0097191)|hyperosmotic response (GO:0006972)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|microglial cell activation involved in immune response (GO:0002282)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of osteoclast differentiation (GO:0045671)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type III interferon production (GO:0034346)|response to exogenous dsRNA (GO:0043330)|signal transduction (GO:0007165)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	double-stranded RNA binding (GO:0003725)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TATCTACTTTTGGGGGGGCCTT	0.446																																						ENST00000296795.2																			0				breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(31-33)gggfs		toll-like receptor 3																																				SO:0001589	frameshift_variant	7098				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity	g.chr4:186997804_186997805insG	U88879	CCDS3846.1	4q35	2014-09-17				ENSG00000164342		"""CD molecules"""	11849	protein-coding gene	gene with protein product		603029				9435236	Standard	NM_003265		Approved	CD283	uc003iyq.3	O15455		ENST00000296795.3:c.38dupG	4.37:g.186997811_186997811dupG	ENSP00000296795:p.Trp11fs						p.G11fs	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)	2	135_136	+		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	11					B2RAI7|B7Z7K0|E6Y0F0|E6Y0F1|E9PGH4|Q4VAL2|Q504W0	Frame_Shift_Ins	INS	ENST00000296795.3	37	c.31_32insG	CCDS3846.1																																																																																				0.446	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360313.4			7	197						7	197	---	---	---	---
C6	729	broad.mit.edu	37	5	41159256	41159257	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr5:41159256_41159257insG	ENST00000263413.3	-	12	2047_2048	c.1783_1784insC	c.(1783-1785)caafs	p.Q595fs	C6_ENST00000475349.1_5'Flank|C6_ENST00000337836.5_Frame_Shift_Ins_p.Q595fs	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	595	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)		p.Q595K(1)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CCCTCCTCGTTGGGGGGCAGGA	0.5																																						ENST00000263413.3																			1	Substitution - Missense(1)	p.Q595K(1)	lung(1)	central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96						c.(1783-1785)acgfs		complement component 6																																				SO:0001589	frameshift_variant	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41159256_41159257insG	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.1784dupC	5.37:g.41159262_41159262dupG	ENSP00000263413:p.Gln595fs					C6_ENST00000337836.5_Frame_Shift_Ins_p.T595fs	p.T595fs	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN			12	2047_2048	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	595			TSP type-1 3.			Frame_Shift_Ins	INS	ENST00000263413.3	37	c.1783_1784insC	CCDS3936.1																																																																																				0.500	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			7	311						7	311	---	---	---	---
SEMA6A	57556	broad.mit.edu	37	5	115782764	115782765	+	Frame_Shift_Ins	INS	-	-	G	rs569568718	byFrequency	TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr5:115782764_115782765insG	ENST00000343348.6	-	19	3424_3425	c.2637_2638insC	c.(2635-2640)cccaaafs	p.K880fs	CTB-118N6.3_ENST00000508640.1_RNA|SEMA6A_ENST00000513137.1_Frame_Shift_Ins_p.K307fs|SEMA6A_ENST00000510263.1_Frame_Shift_Ins_p.K880fs|CTB-118N6.3_ENST00000514214.1_RNA|CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000282394.6_Frame_Shift_Ins_p.K357fs|SEMA6A_ENST00000503865.1_Frame_Shift_Ins_p.K259fs|CTB-118N6.3_ENST00000508424.1_RNA|SEMA6A_ENST00000257414.8_Frame_Shift_Ins_p.K897fs|CTB-118N6.3_ENST00000512128.1_RNA	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	880					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|centrosome localization (GO:0051642)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|positive regulation of neuron migration (GO:2001224)|semaphorin-plexin signaling pathway (GO:0071526)	axon (GO:0030424)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		TGTGGAACTTTGGGGGGCAGGC	0.604																																						ENST00000343348.6																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(2635-2640)ccaagtfs		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A																																				SO:0001589	frameshift_variant	57556				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity	g.chr5:115782764_115782765insG	AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"""Semaphorins"""	10738	protein-coding gene	gene with protein product	"""sema VIa"""	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.2638dupC	5.37:g.115782770_115782770dupG	ENSP00000345512:p.Lys880fs					SEMA6A_ENST00000257414.8_Frame_Shift_Ins_p.S897fs|SEMA6A_ENST00000503865.1_Frame_Shift_Ins_p.S259fs|SEMA6A_ENST00000510263.1_Frame_Shift_Ins_p.S880fs|SEMA6A_ENST00000282394.6_Frame_Shift_Ins_p.S357fs|SEMA6A_ENST00000513137.1_Frame_Shift_Ins_p.S307fs	p.S880fs	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)	19	3424_3425	-		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)	880					Q9P2H9	Frame_Shift_Ins	INS	ENST00000343348.6	37	c.2637_2638insC	CCDS47256.1																																																																																				0.604	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371270.1	NM_020796		7	267						7	267	---	---	---	---
GCNT2	2651	broad.mit.edu	37	6	10557409	10557410	+	Intron	INS	-	-	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr6:10557409_10557410insC	ENST00000379597.3	+	1	1481				GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000316170.3_Frame_Shift_Ins_p.P252fs			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)						maintenance of lens transparency (GO:0036438)|negative regulation of cell-substrate adhesion (GO:0010812)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of protein kinase B signaling (GO:0051897)|posttranscriptional regulation of gene expression (GO:0010608)|protein glycosylation (GO:0006486)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		TGAAACCGCCTCCCCCCCATAA	0.485																																						ENST00000316170.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12						c.(751-756)ccccccfs		glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)																																				SO:0001627	intron_variant	2651					Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	g.chr6:10557409_10557410insC	L41605	CCDS4512.1, CCDS4513.1, CCDS34338.1	6p24.2	2014-07-18	2006-02-23		ENSG00000111846	ENSG00000111846	2.4.1.150	"""Blood group antigens"", ""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4204	protein-coding gene	gene with protein product	"""Ii blood group"", ""unassigned linkage group 3"""	600429	"""glucosaminyl (N-acetyl) transferase 5"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (Ii blood group)"", ""cataract, congenital"""	NACGT1, II, GCNT5, CCAT		8449405, 9915862	Standard	NM_145649		Approved	IGNT, NAGCT1, bA421M1.1, bA360O19.2, ULG3	uc003mze.3	Q06430	OTTHUMG00000014244	ENST00000379597.3:c.925+27340->C	6.37:g.10557416_10557416dupC						GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000397423.2_Intron	p.PP251fs	NM_001491.2	NP_001482.1	Q8N0V5	GNT2A_HUMAN		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)	1	1170_1171	+	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)	253						Frame_Shift_Ins	INS	ENST00000379597.3	37	c.753_754insC	CCDS34338.1																																																																																				0.485	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327912.3	NM_145649		9	201						9	201	---	---	---	---
PHACTR1	221692	broad.mit.edu	37	6	13206134	13206135	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr6:13206134_13206135insG	ENST00000379350.1	+	7	881_882	c.752_753insG	c.(751-756)gtggggfs	p.VG251fs	PHACTR1_ENST00000457702.2_Frame_Shift_Ins_p.VG106fs|PHACTR1_ENST00000332995.7_Frame_Shift_Ins_p.VG251fs|PHACTR1_ENST00000379345.2_Intron			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	251					actin cytoskeleton reorganization (GO:0031532)|actomyosin structure organization (GO:0031032)|cell motility (GO:0048870)|stress fiber assembly (GO:0043149)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)|synapse (GO:0045202)	actin binding (GO:0003779)|protein phosphatase inhibitor activity (GO:0004864)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			TGTATGCCCGTGGGGGGGCCAG	0.599																																						ENST00000379350.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26						c.(751-753)gggfs		phosphatase and actin regulator 1																																				SO:0001589	frameshift_variant	221692					cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity	g.chr6:13206134_13206135insG	AB051520	CCDS75401.1	6p23	2013-01-24	2004-05-20	2004-05-21	ENSG00000112137	ENSG00000112137		"""Phosphatase and actin regulators"""	20990	protein-coding gene	gene with protein product		608723	"""RPEL repeat containing 1"""	RPEL1		11214970, 15107502	Standard	NM_030948		Approved	KIAA1733, dJ257A7.2	uc010jpc.3	Q9C0D0	OTTHUMG00000014270	ENST00000379350.1:c.759dupG	6.37:g.13206141_13206141dupG	ENSP00000368655:p.Val251fs					PHACTR1_ENST00000457702.2_Frame_Shift_Ins_p.G106fs|PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000332995.7_Frame_Shift_Ins_p.G251fs	p.G251fs			Q9C0D0	PHAR1_HUMAN	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)		7	881_882	+	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	251					A8K1V2|Q3MJ93|Q5JSJ2	Frame_Shift_Ins	INS	ENST00000379350.1	37	c.752_753insG																																																																																					0.599	PHACTR1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039876.1	XM_166420		10	89						10	89	---	---	---	---
FANCE	2178	broad.mit.edu	37	6	35425714	35425715	+	Frame_Shift_Ins	INS	-	-	C	rs587778337		TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr6:35425714_35425715insC	ENST00000229769.2	+	4	1107_1108	c.922_923insC	c.(922-924)gccfs	p.A308fs		NM_021922.2	NP_068741.1	Q9HB96	FANCE_HUMAN	Fanconi anemia, complementation group E	308	Interaction with FANCC.				DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						ATTGGAGGATGCCCCCCCAGTT	0.54			"""N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000229769.2			yes	Rec		Fanconi anaemia E	6	6p21-p22	2178	"""N, F, S"""	"""Fanconi anemia, complementation group E"""			L		"""AML, leukemia"""			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						c.(922-924)cccfs	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group E				16,4248		0,16,2116						-5.8	0.0		dbSNP_130	75	14,8240		0,14,4113	no	frameshift	FANCE	NM_021922.2		0,30,6229	A1A1,A1R,RR		0.1696,0.3752,0.2397				30,12488				SO:0001589	frameshift_variant	2178	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	nucleoplasm	protein binding	g.chr6:35425714_35425715insC	AF265210	CCDS4805.1	6p22-p21	2014-09-17			ENSG00000112039	ENSG00000112039		"""Fanconi anemia, complementation groups"""	3586	protein-coding gene	gene with protein product		613976		FACE		7662964, 11001585	Standard	XM_005248885		Approved	FAE	uc003oko.1	Q9HB96	OTTHUMG00000014565	ENST00000229769.2:c.929dupC	6.37:g.35425721_35425721dupC	ENSP00000229769:p.Ala308fs						p.P308fs	NM_021922.2	NP_068741.1	Q9HB96	FANCE_HUMAN			4	1107_1108	+			308			Interaction with FANCC.		A8K907|Q4ZGH2	Frame_Shift_Ins	INS	ENST00000229769.2	37	c.922_923insC	CCDS4805.1																																																																																				0.540	FANCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040282.1			7	136						7	136	---	---	---	---
EIF3B	8662	broad.mit.edu	37	7	2404085	2404086	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr7:2404085_2404086insG	ENST00000360876.4	+	6	1134_1135	c.1078_1079insG	c.(1078-1080)tggfs	p.W360fs	EIF3B_ENST00000397011.2_Frame_Shift_Ins_p.W360fs	NM_001037283.1	NP_001032360.1			eukaryotic translation initiation factor 3, subunit B											breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		CATTGCTCTATGGGGGGGAGAG	0.475																																						ENST00000360876.4																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24						c.(1078-1080)gggfs		eukaryotic translation initiation factor 3, subunit B																																				SO:0001589	frameshift_variant	8662				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity	g.chr7:2404085_2404086insG	U62583	CCDS5332.1	7p22	2013-02-12	2007-07-27	2007-07-27	ENSG00000106263	ENSG00000106263		"""RNA binding motif (RRM) containing"""	3280	protein-coding gene	gene with protein product		603917	"""eukaryotic translation initiation factor 3, subunit 9 eta, 116kDa"""	EIF3S9		8995410	Standard	NM_001037283		Approved	PRT1, eIF3b	uc003sly.3	P55884	OTTHUMG00000022839	ENST00000360876.4:c.1085dupG	7.37:g.2404092_2404092dupG	ENSP00000354125:p.Trp360fs					EIF3B_ENST00000397011.2_Frame_Shift_Ins_p.G360fs	p.G360fs	NM_001037283.1	NP_001032360.1	P55884	EIF3B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)	6	1134_1135	+		Ovarian(82;0.0253)	360			Sufficient for interaction with EIF3E.			Frame_Shift_Ins	INS	ENST00000360876.4	37	c.1078_1079insG	CCDS5332.1																																																																																				0.475	EIF3B-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207006.1			10	165						10	165	---	---	---	---
SDK1	221935	broad.mit.edu	37	7	4008946	4008947	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr7:4008946_4008947insG	ENST00000404826.2	+	11	1743_1744	c.1604_1605insG	c.(1603-1608)tcggggfs	p.SG535fs	SDK1_ENST00000389531.3_Frame_Shift_Ins_p.SG535fs	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	535	Ig-like C2-type 5.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CTTCTTGAATCGGGGGGTCTAC	0.545																																						ENST00000404826.2																			0				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(1603-1605)tggfs		sidekick cell adhesion molecule 1																																				SO:0001589	frameshift_variant	221935				cell adhesion	integral to membrane		g.chr7:4008946_4008947insG	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.1610dupG	7.37:g.4008952_4008952dupG	ENSP00000385899:p.Ser535fs					SDK1_ENST00000389531.3_Frame_Shift_Ins_p.W535fs	p.W535fs	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	11	1743_1744	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	535			Ig-like C2-type 5.		Q8TEN9|Q8TEP5|Q96N44	Frame_Shift_Ins	INS	ENST00000404826.2	37	c.1604_1605insG	CCDS34590.1																																																																																				0.545	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		8	854						8	854	---	---	---	---
PCOLCE	5118	broad.mit.edu	37	7	100205413	100205414	+	Frame_Shift_Ins	INS	-	-	C	rs538448756		TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr7:100205413_100205414insC	ENST00000223061.5	+	8	1446_1447	c.1166_1167insC	c.(1165-1170)tgccccfs	p.CP389fs		NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	389	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				multicellular organismal development (GO:0007275)|positive regulation of peptidase activity (GO:0010952)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)	p.M392fs*>59(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TGCAAGCAGTGCCCCCCCATGA	0.51																																						ENST00000223061.5																			2	Insertion - Frameshift(2)	p.M392fs*>59(2)	ovary(1)|large_intestine(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23						c.(1165-1167)tccfs		procollagen C-endopeptidase enhancer																																				SO:0001589	frameshift_variant	5118				multicellular organismal development	extracellular space	collagen binding|heparin binding|peptidase activator activity	g.chr7:100205413_100205414insC	L33799	CCDS5700.1	7q22	2008-07-18			ENSG00000106333	ENSG00000106333			8738	protein-coding gene	gene with protein product	"""procollagen, type 1, COOH-terminal proteinase enhancer"", ""procollagen C-proteinase enhancer 1"""	600270				8824813, 9799793	Standard	NM_002593		Approved	PCPE, PCPE1	uc003uvo.3	Q15113	OTTHUMG00000156675	ENST00000223061.5:c.1173dupC	7.37:g.100205420_100205420dupC	ENSP00000223061:p.Cys389fs						p.S389fs	NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN			8	1446_1447	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		389			NTR.		B2R9E1|O14550	Frame_Shift_Ins	INS	ENST00000223061.5	37	c.1166_1167insC	CCDS5700.1																																																																																				0.510	PCOLCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345285.1	NM_002593		22	456						22	456	---	---	---	---
TNPO3	23534	broad.mit.edu	37	7	128610258	128610259	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr7:128610258_128610259insG	ENST00000265388.5	-	20	2684_2685	c.2541_2542insC	c.(2539-2544)ccctatfs	p.Y848fs	TNPO3_ENST00000482320.1_Frame_Shift_Ins_p.Y782fs|TNPO3_ENST00000471166.1_Frame_Shift_Ins_p.Y882fs|RN7SL306P_ENST00000492941.2_RNA|TNPO3_ENST00000393245.1_Frame_Shift_Ins_p.Y882fs|TNPO3_ENST00000471234.1_Frame_Shift_Ins_p.Y784fs			Q9Y5L0	TNPO3_HUMAN	transportin 3	848					splicing factor protein import into nucleus (GO:0035048)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						GGTAGGGTATAGGGGGGGAGGC	0.485																																					Pancreas(147;583 2585 39696 52331)	ENST00000393245.1																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						c.(2641-2646)ccatacfs		transportin 3																																				SO:0001589	frameshift_variant	23534				splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity	g.chr7:128610258_128610259insG	AF145029	CCDS5809.1, CCDS55162.1	7q32.2	2014-02-03			ENSG00000064419	ENSG00000064419		"""Importins"""	17103	protein-coding gene	gene with protein product	"""importin 12"""	610032	"""limb girdle muscular dystrophy 1F (autosomal dominant)"""	LGMD1F		10366588, 10713112, 23543484, 23667635	Standard	NM_012470		Approved	TRN-SR, MTR10A, TRN-SR2, IPO12	uc003vol.2	Q9Y5L0	OTTHUMG00000158409	ENST00000265388.5:c.2542dupC	7.37:g.128610265_128610265dupG	ENSP00000265388:p.Tyr848fs					TNPO3_ENST00000471234.1_Frame_Shift_Ins_p.Y784fs|TNPO3_ENST00000471166.1_Frame_Shift_Ins_p.Y882fs|TNPO3_ENST00000482320.1_Frame_Shift_Ins_p.Y782fs|TNPO3_ENST00000265388.5_Frame_Shift_Ins_p.Y848fs	p.Y882fs	NM_012470.3	NP_036602.1	Q9Y5L0	TNPO3_HUMAN			20	3016_3017	-			848					A4D1K9|C9IZM0|Q6NUM1|Q96G71|Q96GU9|Q9Y3R2	Frame_Shift_Ins	INS	ENST00000265388.5	37	c.2643_2644insC	CCDS5809.1																																																																																				0.485	TNPO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350929.1	NM_012470		13	236						13	236	---	---	---	---
MAN1B1	11253	broad.mit.edu	37	9	139995547	139995548	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr9:139995547_139995548insG	ENST00000371589.4	+	7	1080_1081	c.1007_1008insG	c.(1006-1011)ctggggfs	p.LG336fs	MAN1B1_ENST00000474902.1_Frame_Shift_Ins_p.LG39fs	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	mannosidase, alpha, class 1B, member 1	336					cellular protein metabolic process (GO:0044267)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum quality control compartment (GO:0044322)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		ATCCGCATCCTGGGGGGGCTCC	0.54																																						ENST00000371589.4																			0				autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14						c.(1006-1008)cggfs		mannosidase, alpha, class 1B, member 1																																				SO:0001589	frameshift_variant	11253				oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane	alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr9:139995547_139995548insG	AF145732	CCDS7029.1	9q34.3	2014-05-27			ENSG00000177239	ENSG00000177239			6823	protein-coding gene	gene with protein product	"""endoplasmic reticulum alpha-mannosidase 1"", ""alpha 1,2-mannosidase"", ""endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 1"", ""ER alpha 1,2-mannosidase"", ""Man9GlcNAc2-specific processing alpha-mannosidase"""	604346				10409699, 10521544	Standard	NM_016219		Approved	MANA-ER, MRT15	uc004cld.3	Q9UKM7	OTTHUMG00000020978	ENST00000371589.4:c.1014dupG	9.37:g.139995554_139995554dupG	ENSP00000360645:p.Leu336fs					MAN1B1_ENST00000474902.1_Frame_Shift_Ins_p.R39fs	p.R336fs	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)	7	1080_1081	+	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	336					Q5VSG3|Q9BRS9|Q9Y5K7	Frame_Shift_Ins	INS	ENST00000371589.4	37	c.1007_1008insG	CCDS7029.1																																																																																				0.540	MAN1B1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055294.2	NM_016219		8	273						8	273	---	---	---	---
NCOA4	8031	broad.mit.edu	37	10	51586311	51586312	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr10:51586311_51586312insC	ENST00000443446.1	+	9	1968_1969	c.1739_1740insC	c.(1738-1743)ttccccfs	p.FP580fs	NCOA4_ENST00000374082.1_Frame_Shift_Ins_p.S535fs|NCOA4_ENST00000344348.6_Frame_Shift_Ins_p.FP580fs|NCOA4_ENST00000438493.1_Frame_Shift_Ins_p.FP596fs|NCOA4_ENST00000414907.2_Frame_Shift_Ins_p.FP414fs|NCOA4_ENST00000374087.4_Frame_Shift_Ins_p.FP580fs|NCOA4_ENST00000430396.2_Frame_Shift_Ins_p.FP480fs|NCOA4_ENST00000452682.1_Frame_Shift_Ins_p.FP596fs	NM_001145262.1	NP_001138734.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	580					androgen receptor signaling pathway (GO:0030521)|male gonad development (GO:0008584)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|transcription coactivator activity (GO:0003713)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						GAACATAACTTCCCCCCAGACC	0.416			T	RET	papillary thyroid																																	ENST00000452682.1				Dom	yes		10	10q11.2	8031	T	nuclear receptor coactivator 4 - PTC3 (ELE1)			E	RET		papillary thyroid		0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						c.(1786-1788)tccfs		nuclear receptor coactivator 4																																				SO:0001589	frameshift_variant	8031				androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity	g.chr10:51586311_51586312insC	L49399	CCDS73092.1, CCDS73093.1, CCDS73094.1	10q11.2	2014-04-10			ENSG00000138293	ENSG00000266412			7671	protein-coding gene	gene with protein product	"""RET-activating gene ELE1"""	601984				8290261, 8643607, 24695223	Standard	NM_001145260		Approved	ARA70, RFG, ELE1, PTC3, DKFZp762E1112	uc009xon.3	Q13772	OTTHUMG00000188314	ENST00000443446.1:c.1745dupC	10.37:g.51586317_51586317dupC	ENSP00000390713:p.Phe580fs					NCOA4_ENST00000443446.1_Frame_Shift_Ins_p.S580fs|NCOA4_ENST00000438493.1_Frame_Shift_Ins_p.S596fs|NCOA4_ENST00000414907.2_Frame_Shift_Ins_p.S414fs|NCOA4_ENST00000430396.2_Frame_Shift_Ins_p.S480fs|NCOA4_ENST00000374082.1_Frame_Shift_Ins_p.P535fs|NCOA4_ENST00000374087.4_Frame_Shift_Ins_p.S580fs|NCOA4_ENST00000344348.6_Frame_Shift_Ins_p.S580fs	p.S596fs	NM_001145260.1	NP_001138732.1	Q13772	NCOA4_HUMAN			10	2039_2040	+			580					A8K8W5|B4E260|E9PAV7|J3KQN8|Q14239	Frame_Shift_Ins	INS	ENST00000443446.1	37	c.1787_1788insC	CCDS7237.1																																																																																				0.416	NCOA4-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048052.1	NM_005437		7	624						7	624	---	---	---	---
SEC24C	9632	broad.mit.edu	37	10	75525559	75525560	+	Splice_Site	INS	-	-	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr10:75525559_75525560insC	ENST00000339365.2	+	11	1530_1531	c.1368_1369insC	c.(1369-1371)ccc>Cccc	p.P457fs	SEC24C_ENST00000546025.1_Intron|SEC24C_ENST00000345254.4_Splice_Site_p.P457fs|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000411652.2_Splice_Site_p.P338fs|SEC24C_ENST00000535742.1_Intron	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	457					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					TTCCCACAGTTCCCCCCCAGTA	0.51																																						ENST00000339365.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.e11-1		SEC24 family member C																																				SO:0001630	splice_region_variant	9632				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding	g.chr10:75525559_75525560insC	D38555	CCDS7332.1	10q22	2013-10-21	2013-10-21		ENSG00000176986	ENSG00000176986			10705	protein-coding gene	gene with protein product		607185	"""SEC24 (S. cerevisiae) related gene family, member C"", ""SEC24 family, member C (S. cerevisiae)"""			10214955, 7584044	Standard	NM_004922		Approved	KIAA0079	uc001jux.3	P53992	OTTHUMG00000018476	ENST00000339365.2:c.1367-1->C	10.37:g.75525566_75525566dupC						SEC24C_ENST00000546025.1_Intron|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000345254.4_Splice_Site_p.VP456_splice|SEC24C_ENST00000411652.2_Splice_Site_p.VP337_splice	p.VP456_splice	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN			11	1530_1531	+	Prostate(51;0.0112)		456					B4DZT4|Q8WV25	Splice_Site	INS	ENST00000339365.2	37	c.1366_splice	CCDS7332.1																																																																																				0.510	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048679.1		Frame_Shift_Ins	14	312						14	312	---	---	---	---
BTRC	8945	broad.mit.edu	37	10	103310572	103310573	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr10:103310572_103310573insC	ENST00000370187.3	+	14	1891_1892	c.1773_1774insC	c.(1774-1776)cccfs	p.P592fs	BTRC_ENST00000408038.2_Frame_Shift_Ins_p.P556fs|BTRC_ENST00000393441.4_Frame_Shift_Ins_p.P551fs|BTRC_ENST00000493877.1_3'UTR	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	592			P -> H (in dbSNP:rs2270439).		anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cellular response to organic cyclic compound (GO:0071407)|G2/M transition of mitotic cell cycle (GO:0000086)|mammary gland epithelial cell proliferation (GO:0033598)|mitotic cell cycle (GO:0000278)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		CCCAAGCTGAACCCCCCCGTTC	0.431																																						ENST00000370187.3																			0				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27						c.(1771-1776)gaccccfs		beta-transducin repeat containing E3 ubiquitin protein ligase																																				SO:0001589	frameshift_variant	8945				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex		g.chr10:103310572_103310573insC	Y14153	CCDS7511.1, CCDS7512.1, CCDS73183.1	10q24.32	2013-01-10	2012-02-23		ENSG00000166167	ENSG00000166167		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	1144	protein-coding gene	gene with protein product		603482	"""beta-transducin repeat containing"""			9660940, 10331953, 18354483	Standard	NM_033637		Approved	bTrCP, betaTrCP, FBXW1A, Fwd1, beta-TrCP1, bTrCP1	uc001kta.4	Q9Y297	OTTHUMG00000018932	ENST00000370187.3:c.1780dupC	10.37:g.103310579_103310579dupC	ENSP00000359206:p.Pro592fs					BTRC_ENST00000393441.4_Frame_Shift_Ins_p.DP550fs|BTRC_ENST00000408038.2_Frame_Shift_Ins_p.DP555fs|BTRC_ENST00000493877.1_3'UTR	p.DP591fs	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)	14	1891_1892	+		Colorectal(252;0.234)	591					B5MD49|Q5W141|Q5W142|Q9Y213	Frame_Shift_Ins	INS	ENST00000370187.3	37	c.1773_1774insC	CCDS7512.1																																																																																				0.431	BTRC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049936.1	NM_033637		9	160						9	160	---	---	---	---
TACC2	10579	broad.mit.edu	37	10	123844479	123844479	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr10:123844479delC	ENST00000369005.1	+	4	2804	c.2464delC	c.(2464-2466)cccfs	p.P822fs	TACC2_ENST00000515603.1_Frame_Shift_Del_p.P822fs|TACC2_ENST00000515273.1_Frame_Shift_Del_p.P822fs|TACC2_ENST00000453444.2_Frame_Shift_Del_p.P822fs|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000334433.3_Frame_Shift_Del_p.P822fs	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	822					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				ATCCGAGTGGCCCCTACTATC	0.577																																						ENST00000369005.1																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(2464-2466)ccfs		transforming, acidic coiled-coil containing protein 2							103.0	103.0	103.0					10																	123844479		2203	4300	6503	SO:0001589	frameshift_variant	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123844479delC	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.2464delC	10.37:g.123844479delC	ENSP00000358001:p.Pro822fs					TACC2_ENST00000515273.1_Frame_Shift_Del_p.P822fs|TACC2_ENST00000515603.1_Frame_Shift_Del_p.P822fs|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000334433.3_Frame_Shift_Del_p.P822fs|TACC2_ENST00000453444.2_Frame_Shift_Del_p.P822fs|TACC2_ENST00000358010.1_Intron	p.P822fs	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			4	2804	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	822					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Frame_Shift_Del	DEL	ENST00000369005.1	37	c.2464delC	CCDS7626.1																																																																																				0.577	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			8	40						8	40	---	---	---	---
DENND5A	23258	broad.mit.edu	37	11	9167316	9167317	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr11:9167316_9167317insC	ENST00000328194.3	-	17	3223_3224	c.2903_2904insG	c.(2902-2904)ggcfs	p.G968fs	DENND5A_ENST00000527700.1_Frame_Shift_Ins_p.G311fs|DENND5A_ENST00000530044.1_Frame_Shift_Ins_p.G968fs	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	968	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				positive regulation of Rab GTPase activity (GO:0032851)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TGAACATGGAGCCCCCCAGCTT	0.48																																						ENST00000328194.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(2902-2904)gtcfs		DENN/MADD domain containing 5A																																				SO:0001589	frameshift_variant	23258							g.chr11:9167316_9167317insC	AB029014	CCDS31423.1, CCDS58119.1	11p15.3	2012-10-03	2008-08-14	2008-08-14	ENSG00000184014	ENSG00000184014		"""DENN/MADD domain containing"""	19344	protein-coding gene	gene with protein product			"""RAB6 interacting protein 1"""	RAB6IP1		10470851	Standard	NM_015213		Approved	KIAA1091, FLJ22354, FLJ33829, FLJ43455	uc001mhl.3	Q6IQ26	OTTHUMG00000165716	ENST00000328194.3:c.2904dupG	11.37:g.9167322_9167322dupC	ENSP00000328524:p.Gly968fs					DENND5A_ENST00000530044.1_Frame_Shift_Ins_p.V968fs|DENND5A_ENST00000527700.1_Frame_Shift_Ins_p.V311fs	p.V968fs	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN			17	3223_3224	-			968			PLAT.		B4DJ15|E9PS91|Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	Frame_Shift_Ins	INS	ENST00000328194.3	37	c.2903_2904insG	CCDS31423.1																																																																																				0.480	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385910.2	NM_015213		7	543						7	543	---	---	---	---
BSCL2	26580	broad.mit.edu	37	11	62458782	62458783	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr11:62458782_62458783insC	ENST00000403550.1	-	7	1205_1206	c.782_783insG	c.(781-783)ggcfs	p.G261fs	LRRN4CL_ENST00000317449.4_5'Flank|BSCL2_ENST00000405837.1_Frame_Shift_Ins_p.G325fs|HNRNPUL2-BSCL2_ENST00000403734.2_3'UTR|BSCL2_ENST00000433053.1_Frame_Shift_Ins_p.G325fs|BSCL2_ENST00000407022.3_Frame_Shift_Ins_p.G261fs|BSCL2_ENST00000421906.1_Frame_Shift_Ins_p.G261fs|BSCL2_ENST00000360796.5_Frame_Shift_Ins_p.G325fs|BSCL2_ENST00000278893.7_Intron			Q96G97	BSCL2_HUMAN	Berardinelli-Seip congenital lipodystrophy 2 (seipin)	261					cell death (GO:0008219)|fat cell differentiation (GO:0045444)|lipid catabolic process (GO:0016042)|lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|negative regulation of lipid catabolic process (GO:0050995)	integral component of endoplasmic reticulum membrane (GO:0030176)				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						GGGGCCAGATGCCCCCCCACAC	0.559																																						ENST00000433053.1																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12	GRCh37	CI033285	BSCL2	I		c.(973-975)gatfs		Berardinelli-Seip congenital lipodystrophy 2 (seipin)			,,	12,4252		0,12,2120					,,	3.3	0.9			68	10,8244		0,10,4117	no	frameshift,intron,frameshift	BSCL2	NM_032667.6,NM_001130702.2,NM_001122955.3	,,	0,22,6237	A1A1,A1R,RR		0.1212,0.2814,0.1757	,,	,,		22,12496				SO:0001589	frameshift_variant	26580				cell death	integral to endoplasmic reticulum membrane		g.chr11:62458782_62458783insC		CCDS8031.1, CCDS44627.1, CCDS55769.1	11q13	2014-09-17	2009-07-30		ENSG00000168000	ENSG00000168000			15832	protein-coding gene	gene with protein product		606158	"""spastic paraplegia 17 (Silver syndrome)"""	GNG3LG, SPG17		11479539, 14981520	Standard	NM_001122955		Approved		uc001nur.4	Q96G97	OTTHUMG00000150624	ENST00000403550.1:c.783dupG	11.37:g.62458789_62458789dupC	ENSP00000385561:p.Gly261fs					BSCL2_ENST00000407022.3_Frame_Shift_Ins_p.D261fs|BSCL2_ENST00000421906.1_Frame_Shift_Ins_p.D261fs|BSCL2_ENST00000360796.5_Frame_Shift_Ins_p.D325fs|BSCL2_ENST00000405837.1_Frame_Shift_Ins_p.D325fs|BSCL2_ENST00000278893.7_Intron|RP11-831H9.16_ENST00000403734.2_3'UTR|BSCL2_ENST00000403550.1_Frame_Shift_Ins_p.D261fs	p.D325fs			Q96G97	BSCL2_HUMAN			8	1530_1531	-			261					G3XAE4|Q567S1|Q96SV1|Q9BSQ0	Frame_Shift_Ins	INS	ENST00000403550.1	37	c.974_975insG	CCDS8031.1																																																																																				0.559	BSCL2-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000319185.1	NM_032667		7	90						7	90	---	---	---	---
MYO7A	4647	broad.mit.edu	37	11	76873960	76873961	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr11:76873960_76873961insC	ENST00000409709.3	+	14	1888_1889	c.1616_1617insC	c.(1615-1620)atccccfs	p.IP539fs	MYO7A_ENST00000458637.2_Frame_Shift_Ins_p.IP539fs|MYO7A_ENST00000409893.1_Frame_Shift_Ins_p.IP539fs|MYO7A_ENST00000409619.2_Frame_Shift_Ins_p.IP528fs	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	539	Myosin motor.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)	p.K542fs*80(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GCCAACTACATCCCCCCCAAGA	0.564																																						ENST00000409709.3																			1	Deletion - Frameshift(1)	p.K542fs*80(1)	large_intestine(1)	NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(1615-1617)accfs		myosin VIIA																																				SO:0001589	frameshift_variant	4647				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr11:76873960_76873961insC	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.1623dupC	11.37:g.76873967_76873967dupC	ENSP00000386331:p.Ile539fs					MYO7A_ENST00000458637.2_Frame_Shift_Ins_p.T539fs|MYO7A_ENST00000409893.1_Frame_Shift_Ins_p.T539fs|MYO7A_ENST00000409619.2_Frame_Shift_Ins_p.T528fs	p.T539fs	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN			14	1888_1889	+			539			Myosin head-like.		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Frame_Shift_Ins	INS	ENST00000409709.3	37	c.1616_1617insC	CCDS53683.1																																																																																				0.564	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		16	246						16	246	---	---	---	---
GLI1	2735	broad.mit.edu	37	12	57860074	57860075	+	Frame_Shift_Ins	INS	-	-	G	rs368789621		TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr12:57860074_57860075insG	ENST00000228682.2	+	8	905_906	c.814_815insG	c.(814-816)tggfs	p.W272fs	GLI1_ENST00000543426.1_Frame_Shift_Ins_p.W144fs|GLI1_ENST00000546141.1_Frame_Shift_Ins_p.W231fs	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	272					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CGTGTGCCACTGGGGGGGCTGC	0.599																																					Pancreas(157;841 1936 10503 41495 50368)	ENST00000228682.2																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(814-816)gggfs		GLI family zinc finger 1																																				SO:0001589	frameshift_variant	2735				epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr12:57860074_57860075insG		CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"""Zinc fingers, C2H2-type"""	4317	protein-coding gene	gene with protein product		165220	"""glioma-associated oncogene homolog 1 (zinc finger protein)"", ""glioma-associated oncogene family zinc finger 1"""	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.821dupG	12.37:g.57860081_57860081dupG	ENSP00000228682:p.Trp272fs					GLI1_ENST00000546141.1_Frame_Shift_Ins_p.G231fs|GLI1_ENST00000543426.1_Frame_Shift_Ins_p.G144fs	p.G272fs	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GBM - Glioblastoma multiforme(3;3.99e-32)		8	905_906	+			272					D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Frame_Shift_Ins	INS	ENST00000228682.2	37	c.814_815insG	CCDS8940.1																																																																																				0.599	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	NM_005269		9	194						9	194	---	---	---	---
NAV3	89795	broad.mit.edu	37	12	78400511	78400512	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr12:78400511_78400512insC	ENST00000397909.2	+	8	1366_1367	c.1193_1194insC	c.(1192-1197)cgccccfs	p.RP398fs	NAV3_ENST00000266692.7_Frame_Shift_Ins_p.RP398fs|NAV3_ENST00000536525.2_Frame_Shift_Ins_p.RP398fs|NAV3_ENST00000228327.6_Frame_Shift_Ins_p.RP398fs			Q8IVL0	NAV3_HUMAN	neuron navigator 3	398						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ACTGCTTTACGCCCCCCGCAGC	0.495										HNSCC(70;0.22)																												ENST00000397909.2																			0				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(1192-1194)cccfs		neuron navigator 3				2,3746		0,2,1872						4.8	1.0			90	1,7917		0,1,3958	no	frameshift	NAV3	NM_014903.4		0,3,5830	A1A1,A1R,RR		0.0126,0.0534,0.0257				3,11663				SO:0001589	frameshift_variant	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78400511_78400512insC	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.1199dupC	12.37:g.78400517_78400517dupC	ENSP00000381007:p.Arg398fs	HNSCC(70;0.22)				NAV3_ENST00000536525.2_Frame_Shift_Ins_p.P398fs|NAV3_ENST00000266692.7_Frame_Shift_Ins_p.P398fs|NAV3_ENST00000228327.6_Frame_Shift_Ins_p.P398fs	p.P398fs			Q8IVL0	NAV3_HUMAN			8	1366_1367	+			398					Q8NFW7|Q9Y2E7	Frame_Shift_Ins	INS	ENST00000397909.2	37	c.1193_1194insC																																																																																					0.495	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		8	145						8	145	---	---	---	---
ASCL4	121549	broad.mit.edu	37	12	108169501	108169502	+	Frame_Shift_Ins	INS	-	-	G	rs201513808	byFrequency	TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr12:108169501_108169502insG	ENST00000342331.4	+	1	1340_1341	c.509_510insG	c.(508-513)gaggggfs	p.EG170fs		NM_203436.2	NP_982260.2	Q6XD76	ASCL4_HUMAN	achaete-scute family bHLH transcription factor 4	169					regulation of transcription from RNA polymerase II promoter (GO:0006357)|skin development (GO:0043588)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	13						GAGCCCGAGGAGGGGGGCAGCT	0.738																																					GBM(170;776 3695 11650)	ENST00000342331.4																			0				breast(2)|central_nervous_system(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	13						c.(508-510)gggfs		achaete-scute family bHLH transcription factor 4																																				SO:0001589	frameshift_variant	121549				regulation of transcription from RNA polymerase II promoter|skin development|transcription, DNA-dependent	nucleus	DNA binding	g.chr12:108169501_108169502insG	AY238895	CCDS31894.2	12q24.11	2013-10-17	2013-10-17		ENSG00000187855	ENSG00000187855		"""Basic helix-loop-helix proteins"""	24311	protein-coding gene	gene with protein product		609155	"""achaete-scute complex-like 4 (Drosophila)"", ""achaete-scute complex homolog 4 (Drosophila)"""				Standard	NM_203436		Approved	HASH4, bHLHa44	uc001tmr.3	Q6XD76	OTTHUMG00000156964	ENST00000342331.4:c.515dupG	12.37:g.108169507_108169507dupG	ENSP00000345420:p.Glu170fs						p.G170fs	NM_203436.2	NP_982260.2	Q6XD76	ASCL4_HUMAN			1	1340_1341	+			169					Q7RTS2	Frame_Shift_Ins	INS	ENST00000342331.4	37	c.509_510insG	CCDS31894.2																																																																																				0.738	ASCL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346845.1	NM_203436		2	4						2	4	---	---	---	---
MSI1	4440	broad.mit.edu	37	12	120800902	120800903	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr12:120800902_120800903insC	ENST00000257552.2	-	6	433_434	c.345_346insG	c.(343-348)gggctgfs	p.L116fs	MSI1_ENST00000546622.1_5'Flank	NM_002442.3	NP_002433.1	O43347	MSI1H_HUMAN	musashi RNA-binding protein 1	116	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				epithelial cell differentiation (GO:0030855)|nervous system development (GO:0007399)|response to hormone (GO:0009725)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTCACCGACAGCCCCCCCACAA	0.564																																						ENST00000257552.2																			0				breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19						c.(343-348)ggtgtcfs		musashi RNA-binding protein 1																																				SO:0001589	frameshift_variant	4440				nervous system development	cytoplasm|nucleus	nucleotide binding	g.chr12:120800902_120800903insC	AB012851	CCDS9196.1	12q24	2013-07-16	2012-12-13					"""RNA binding motif (RRM) containing"""	7330	protein-coding gene	gene with protein product		603328	"""Musashi (Drosophila) homolog 1"", ""musashi homolog 1 (Drosophila)"""			9790759	Standard	NM_002442		Approved		uc001tye.2	O43347	OTTHUMG00000169344	ENST00000257552.2:c.346dupG	12.37:g.120800909_120800909dupC	ENSP00000257552:p.Leu116fs						p.V116fs	NM_002442.3	NP_002433.1	O43347	MSI1H_HUMAN			6	433_434	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		116			RRM 2.		Q96PU0|Q96PU1|Q96PU2|Q96PU3	Frame_Shift_Ins	INS	ENST00000257552.2	37	c.345_346insG	CCDS9196.1																																																																																				0.564	MSI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403629.1	NM_002442		7	96						7	96	---	---	---	---
PPP1R13B	23368	broad.mit.edu	37	14	104208221	104208222	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr14:104208221_104208222insG	ENST00000202556.9	-	11	2009_2010	c.1727_1728insC	c.(1726-1728)tcafs	p.S576fs	PPP1R13B_ENST00000423488.2_5'UTR|PPP1R13B_ENST00000555391.1_5'UTR	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	576	Pro-rich.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				ATATGGAACTTGAATTCACTGT	0.51																																						ENST00000202556.9																			0				endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33						c.(1726-1728)tagfs		protein phosphatase 1, regulatory subunit 13B																																				SO:0001589	frameshift_variant	23368				apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding	g.chr14:104208221_104208222insG	AB018314	CCDS41997.1	14q32.33	2013-01-10	2011-10-04		ENSG00000088808	ENSG00000088808		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	14950	protein-coding gene	gene with protein product		606455	"""protein phosphatase 1, regulatory (inhibitor) subunit 13B"""			9872452	Standard	NM_015316		Approved	p53BP2-like, KIAA0771, p85, ASPP1	uc001yof.1	Q96KQ4	OTTHUMG00000171647	ENST00000202556.9:c.1728dupC	14.37:g.104208222_104208222dupG	ENSP00000202556:p.Ser576fs					PPP1R13B_ENST00000423488.2_5'UTR|PPP1R13B_ENST00000555391.1_5'UTR	p.*576fs	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN			11	2009_2010	-		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)	576			Pro-rich.		B2RMX5|O94870	Frame_Shift_Ins	INS	ENST00000202556.9	37	c.1727_1728insC	CCDS41997.1																																																																																				0.510	PPP1R13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414591.1	NM_015316		10	52						10	52	---	---	---	---
OR4M2	390538	broad.mit.edu	37	15	22369023	22369024	+	Frame_Shift_Ins	INS	-	-	G	rs570771230|rs571384652	byFrequency	TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr15:22369023_22369024insG	ENST00000332663.2	+	1	546_547	c.448_449insG	c.(448-450)aggfs	p.R150fs	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	150						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R150M(2)|p.R150W(1)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TCTCTCCTGGAGGGGGGGCTTC	0.5													tgggggg|GGGGGGG|GGGGGGGG|complex_insertion	8	0.00159744	0.0045	0.0	5008	,	,		35803	0.0		0.0	False		,,,				2504	0.002					ENST00000332663.2																			3	Substitution - Missense(3)	p.R150M(2)|p.R150W(1)	lung(3)	NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63						c.(448-450)gggfs		olfactory receptor, family 4, subfamily M, member 2																																				SO:0001589	frameshift_variant	390538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22369023_22369024insG	AC060768	CCDS32172.1	15q11.2	2013-09-23			ENSG00000182974	ENSG00000182974		"""GPCR / Class A : Olfactory receptors"""	15373	protein-coding gene	gene with protein product							Standard	NM_001004719		Approved		uc010tzu.2	Q8NGB6	OTTHUMG00000171738	ENST00000332663.2:c.455dupG	15.37:g.22369030_22369030dupG	ENSP00000329467:p.Arg150fs					RP11-69H14.6_ENST00000558896.1_RNA	p.G150fs	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	1	546_547	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	150					B9EH16|Q6IEY2	Frame_Shift_Ins	INS	ENST00000332663.2	37	c.448_449insG	CCDS32172.1																																																																																				0.500	OR4M2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414921.1			9	265						9	265	---	---	---	---
HERC2	8924	broad.mit.edu	37	15	28478873	28478874	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr15:28478873_28478874insG	ENST00000261609.7	-	28	4395_4396	c.4287_4288insC	c.(4285-4290)cccgagfs	p.E1430fs		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.P1429P(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ACGGGATGCTCGGGGGGAAACA	0.45																																						ENST00000261609.7																			1	Substitution - coding silent(1)	p.P1429P(1)	lung(1)	NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(4285-4290)ccagcafs		HECT and RLD domain containing E3 ubiquitin protein ligase 2																																				SO:0001589	frameshift_variant	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28478873_28478874insG	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.4288dupC	15.37:g.28478879_28478879dupG	ENSP00000261609:p.Glu1430fs						p.A1430fs	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	28	4395_4396	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	1430						Frame_Shift_Ins	INS	ENST00000261609.7	37	c.4287_4288insC	CCDS10021.1																																																																																				0.450	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		8	343						8	343	---	---	---	---
HERC1	8925	broad.mit.edu	37	15	63918305	63918306	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr15:63918305_63918306insG	ENST00000443617.2	-	71	13240_13241	c.13153_13154insC	c.(13153-13155)cagfs	p.Q4385fs		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4385					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CGCCCCATACTGGGGGGGCACT	0.559																																						ENST00000443617.2																			0				NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						c.(13153-13155)gtafs		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1																																				SO:0001589	frameshift_variant	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63918305_63918306insG	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.13154dupC	15.37:g.63918312_63918312dupG	ENSP00000390158:p.Gln4385fs						p.V4385fs	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN			71	13240_13241	-			4385					Q8IW65	Frame_Shift_Ins	INS	ENST00000443617.2	37	c.13153_13154insC	CCDS45277.1																																																																																				0.559	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		10	100						10	100	---	---	---	---
TBX6	6911	broad.mit.edu	37	16	30100077	30100078	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr16:30100077_30100078insC	ENST00000395224.2	-	5	763_764	c.704_705insG	c.(703-705)ggcfs	p.G235fs	TBX6_ENST00000279386.2_Frame_Shift_Ins_p.G235fs|TBX6_ENST00000553607.1_Frame_Shift_Ins_p.G235fs	NM_004608.3	NP_004599.2	O95947	TBX6_HUMAN	T-box 6	235					anatomical structure morphogenesis (GO:0009653)|cell fate specification (GO:0001708)|mesoderm development (GO:0007498)|mesoderm formation (GO:0001707)|negative regulation of neuron maturation (GO:0014043)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	9						AGGAGGCCATGCCCCCCCAGTG	0.629																																						ENST00000553607.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	9						c.(703-705)gatfs		T-box 6																																				SO:0001589	frameshift_variant	6911				anatomical structure morphogenesis|mesoderm development|multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:30100077_30100078insC	AJ007989	CCDS10670.1	16p11.2	2008-02-05			ENSG00000149922	ENSG00000149922		"""T-boxes"""	11605	protein-coding gene	gene with protein product		602427				9888994, 9933572	Standard	NM_004608		Approved		uc010veh.2	O95947	OTTHUMG00000132115	ENST00000395224.2:c.705dupG	16.37:g.30100084_30100084dupC	ENSP00000378650:p.Gly235fs					TBX6_ENST00000395224.2_Frame_Shift_Ins_p.D235fs|TBX6_ENST00000279386.2_Frame_Shift_Ins_p.D235fs	p.D235fs			O95947	TBX6_HUMAN			4	1397_1398	-			235					Q8TAS4|Q9HA44	Frame_Shift_Ins	INS	ENST00000395224.2	37	c.704_705insG	CCDS10670.1																																																																																				0.629	TBX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255157.2	NM_004608, NM_080758		7	156						7	156	---	---	---	---
MT4	84560	broad.mit.edu	37	16	56602768	56602769	+	Frame_Shift_Ins	INS	-	-	C	rs543306573	byFrequency	TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr16:56602768_56602769insC	ENST00000219162.3	+	3	193_194	c.113_114insC	c.(112-117)tgccccfs	p.CP38fs		NM_032935.2	NP_116324	P47944	MT4_HUMAN	metallothionein 4	38					cellular metal ion homeostasis (GO:0006875)		metal ion binding (GO:0046872)			ovary(1)|upper_aerodigestive_tract(1)	2						TGTCCCTGCTGCCCCCCGGGCT	0.599													CCCcCC|CCCCCC|CCCCCCC|insertion	3	0.000599042	0.0023	0.0	5008	,	,		18016	0.0		0.0	False		,,,				2504	0.0					ENST00000219162.3																			0				ovary(1)|upper_aerodigestive_tract(1)	2						c.(112-114)tccfs		metallothionein 4																																				SO:0001589	frameshift_variant	84560					cytoplasm	copper ion binding|zinc ion binding	g.chr16:56602768_56602769insC	BC113442	CCDS42165.1	16q13	2014-09-04	2007-01-26		ENSG00000102891	ENSG00000102891		"""Metallothioneins"""	18705	protein-coding gene	gene with protein product		606206	"""metallothionein IV"""			8003488	Standard	NM_032935		Approved	MTIV	uc002eje.1	P47944	OTTHUMG00000176863	ENST00000219162.3:c.119dupC	16.37:g.56602774_56602774dupC	ENSP00000219162:p.Cys38fs						p.S38fs	NM_032935.2	NP_116324.1	P47944	MT4_HUMAN			3	193_194	+			38					Q14DA1	Frame_Shift_Ins	INS	ENST00000219162.3	37	c.113_114insC	CCDS42165.1																																																																																				0.599	MT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434118.1	NM_032935		8	219						8	219	---	---	---	---
CAMTA2	23125	broad.mit.edu	37	17	4875737	4875738	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr17:4875737_4875738insG	ENST00000348066.3	-	16	2720_2721	c.2597_2598insC	c.(2596-2598)cctfs	p.P866fs	CAMTA2_ENST00000361571.5_Frame_Shift_Ins_p.P865fs|CAMTA2_ENST00000414043.3_Frame_Shift_Ins_p.P889fs|CAMTA2_ENST00000358183.4_Frame_Shift_Ins_p.P866fs|RP5-1050D4.2_ENST00000430920.1_RNA|CAMTA2_ENST00000572543.1_Frame_Shift_Ins_p.P871fs|CAMTA2_ENST00000381311.5_Frame_Shift_Ins_p.P868fs	NM_015099.3	NP_055914.2	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	866					cardiac muscle hypertrophy in response to stress (GO:0014898)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						GCAGAGGTGCAGGGGGGGGACT	0.614																																						ENST00000361571.5																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(2593-2595)cgcfs		calmodulin binding transcription activator 2																																				SO:0001589	frameshift_variant	23125				cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding	g.chr17:4875737_4875738insG	AB020716	CCDS11063.1, CCDS54071.1, CCDS54072.1, CCDS54073.1	17p13.3	2004-09-01			ENSG00000108509	ENSG00000108509			18807	protein-coding gene	gene with protein product		611508				11925432	Standard	NM_015099		Approved	KIAA0909	uc010cku.2	O94983	OTTHUMG00000099417	ENST00000348066.3:c.2598dupC	17.37:g.4875745_4875745dupG	ENSP00000321813:p.Pro866fs					CAMTA2_ENST00000381311.5_Frame_Shift_Ins_p.R868fs|CAMTA2_ENST00000414043.3_Frame_Shift_Ins_p.R889fs|CAMTA2_ENST00000358183.4_Frame_Shift_Ins_p.R866fs|CAMTA2_ENST00000348066.3_Frame_Shift_Ins_p.R866fs|CAMTA2_ENST00000572543.1_Frame_Shift_Ins_p.R871fs	p.R865fs	NM_001171168.1	NP_001164639.1	O94983	CMTA2_HUMAN			15	3005_3006	-			866					B9EGL0|D3DTL5|E7EWU5|Q7Z6M8|Q8N3V0|Q8NDG4|Q96G17	Frame_Shift_Ins	INS	ENST00000348066.3	37	c.2594_2595insC	CCDS11063.1																																																																																				0.614	CAMTA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216876.1	NM_015099		7	41						7	41	---	---	---	---
TMEM256-PLSCR3	100529211	broad.mit.edu	37	17	7294058	7294059	+	Frame_Shift_Ins	INS	-	-	C	rs534765323		TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr17:7294058_7294059insC	ENST00000576362.1	-	6	810_811	c.653_654insG	c.(652-654)ggcfs	p.G218fs	TMEM256-PLSCR3_ENST00000324822.11_Frame_Shift_Ins_p.G242fs|TMEM256-PLSCR3_ENST00000574401.1_Frame_Shift_Ins_p.G242fs|TMEM256-PLSCR3_ENST00000535512.1_Frame_Shift_Ins_p.G242fs|C17orf61-PLSCR3_ENST00000573331.1_3'UTR|TMEM256-PLSCR3_ENST00000576201.1_Frame_Shift_Ins_p.G242fs					TMEM256-PLSCR3 readthrough (NMD candidate)																		CTCGGACCAGGCCCCCCCACTG	0.614																																						ENST00000535512.1																			0				endometrium(1)|kidney(2)|urinary_tract(1)	4						c.(724-726)gctfs		phospholipid scramblase 3																																				SO:0001589	frameshift_variant	57048				phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|calcium-dependent protein binding|phospholipid scramblase activity|SH3 domain binding	g.chr17:7294058_7294059insC			17p13.1	2013-09-25			ENSG00000187838	ENSG00000187838			49186	other	readthrough							Standard	NR_037719		Approved				OTTHUMG00000178150	ENST00000576362.1:c.654dupG	17.37:g.7294065_7294065dupC	ENSP00000460800:p.Gly218fs					C17orf61-PLSCR3_ENST00000573331.1_3'UTR|PLSCR3_ENST00000576362.1_Frame_Shift_Ins_p.A218fs|PLSCR3_ENST00000576201.1_Frame_Shift_Ins_p.A242fs|PLSCR3_ENST00000574401.1_Frame_Shift_Ins_p.A242fs|PLSCR3_ENST00000324822.11_Frame_Shift_Ins_p.A242fs	p.A242fs			Q9NRY6	PLS3_HUMAN			10	1742_1743	-		Prostate(122;0.173)	242						Frame_Shift_Ins	INS	ENST00000576362.1	37	c.725_726insG																																																																																					0.614	TMEM256-PLSCR3-008	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000440808.1			7	196						7	196	---	---	---	---
NEK8	284086	broad.mit.edu	37	17	27068995	27068996	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr17:27068995_27068996insC	ENST00000268766.6	+	15	2103_2104	c.2069_2070insC	c.(2068-2073)gtccccfs	p.VP690fs	TRAF4_ENST00000262396.6_5'Flank|AC010761.6_ENST00000582536.1_RNA|TRAF4_ENST00000262395.5_5'Flank|AC010761.6_ENST00000584779.1_RNA|TRAF4_ENST00000444415.3_5'Flank	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	690					organ morphogenesis (GO:0009887)|regulation of hippo signaling (GO:0035330)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|primary cilium (GO:0072372)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.P703fs*10(1)		breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					GATGAGCCGGTCCCCCCCTGAG	0.584																																					NSCLC(6;19 293 14866 25253 49845)	ENST00000268766.6																			1	Deletion - Frameshift(1)	p.P703fs*10(1)	ovary(1)	breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(2068-2070)gccfs		NIMA-related kinase 8																																				SO:0001589	frameshift_variant	284086					cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:27068995_27068996insC	AY267371	CCDS32597.1	17q11.1	2012-11-15	2012-11-15			ENSG00000160602			13387	protein-coding gene	gene with protein product		609799	"""NIMA (never in mitosis gene a)- related kinase 8"""			18199800	Standard	NM_178170		Approved	NPHP9	uc002hcp.3	Q86SG6		ENST00000268766.6:c.2076dupC	17.37:g.27069002_27069002dupC	ENSP00000268766:p.Val690fs					AC010761.6_ENST00000584779.1_RNA	p.A690fs	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN			15	2103_2104	+	Lung NSC(42;0.0158)		690					A6NIC5|Q14CL7|Q2M1S6|Q8NDH1	Frame_Shift_Ins	INS	ENST00000268766.6	37	c.2069_2070insC	CCDS32597.1																																																																																				0.584	NEK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446467.2			9	197						9	197	---	---	---	---
SSH2	85464	broad.mit.edu	37	17	27959374	27959375	+	Frame_Shift_Ins	INS	-	-	G	rs376316249		TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr17:27959374_27959375insG	ENST00000269033.3	-	15	2907_2908	c.2756_2757insC	c.(2755-2757)ccafs	p.P919fs	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Frame_Shift_Ins_p.P946fs	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	919					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATGAATGTTCTGGGGGGGCTTC	0.48																																						ENST00000269033.3																		SSH2/SUZ12(2)	0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(2755-2757)cgafs		slingshot protein phosphatase 2																																				SO:0001589	frameshift_variant	85464				actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr17:27959374_27959375insG	AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30580	protein-coding gene	gene with protein product		606779	"""slingshot homolog 2 (Drosophila)"""			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.2757dupC	17.37:g.27959381_27959381dupG	ENSP00000269033:p.Pro919fs					SSH2_ENST00000540801.1_Frame_Shift_Ins_p.R946fs|RP11-68I3.2_ENST00000581474.1_RNA	p.R919fs	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN			15	2907_2908	-			919					Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Frame_Shift_Ins	INS	ENST00000269033.3	37	c.2756_2757insC	CCDS11253.1																																																																																				0.480	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1	NM_033389		24	386						24	386	---	---	---	---
ETV4	2118	broad.mit.edu	37	17	41610700	41610701	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr17:41610700_41610701insG	ENST00000319349.5	-	7	697_698	c.399_400insC	c.(397-402)cccagafs	p.R134fs	ETV4_ENST00000591713.1_Frame_Shift_Ins_p.R134fs|ETV4_ENST00000538265.1_Frame_Shift_Ins_p.R95fs|ETV4_ENST00000393664.2_Frame_Shift_Ins_p.R134fs|ETV4_ENST00000545954.1_Frame_Shift_Ins_p.R95fs|ETV4_ENST00000586826.1_5'Flank|ETV4_ENST00000545089.1_Intron	NM_001079675.2	NP_001073143.1	P43268	ETV4_HUMAN	ets variant 4	134					branching involved in mammary gland duct morphogenesis (GO:0060444)|cell differentiation (GO:0030154)|motor neuron axon guidance (GO:0008045)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)		EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2)	ovary(2)|upper_aerodigestive_tract(1)	3		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0798)		GCGATTTGTCTGGGGGGGTCAT	0.579			T	"""EWSR1, TMPRSS2, DDX5, KLK2, CANT1"""	"""Ewing sarcoma, Prostate carcinoma"""																																Esophageal Squamous(116;1540 1611 12927 31103 34118)	ENST00000319349.5				Dom	yes		17	17q21	2118	T	"""ets variant gene 4 (E1A enhancer binding protein, E1AF)"""			"""M, E"""	"""EWSR1, TMPRSS2, DDX5, KLK2, CANT1"""		"""Ewing sarcoma, Prostate carcinoma"""	EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2)	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(397-402)ccgacafs		ets variant 4																																				SO:0001589	frameshift_variant	2118				positive regulation of transcription, DNA-dependent	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:41610700_41610701insG	U18018	CCDS11465.1, CCDS58553.1, CCDS59292.1	17q21	2014-04-30	2008-09-12			ENSG00000175832			3493	protein-coding gene	gene with protein product	"""E1A enhancer binding protein"""	600711	"""ets variant gene 4 (E1A enhancer-binding protein, E1AF)"""			8530053, 1547944	Standard	NM_001986		Approved	E1A-F, E1AF, PEA3	uc002idw.3	P43268		ENST00000319349.5:c.400dupC	17.37:g.41610707_41610707dupG	ENSP00000321835:p.Arg134fs					ETV4_ENST00000538265.1_Frame_Shift_Ins_p.T95fs|ETV4_ENST00000591713.1_Frame_Shift_Ins_p.T134fs|ETV4_ENST00000545954.1_Frame_Shift_Ins_p.T95fs|ETV4_ENST00000393664.2_Frame_Shift_Ins_p.T134fs|ETV4_ENST00000545089.1_Intron	p.T134fs	NM_001079675.2	NP_001073143.1	P43268	ETV4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0798)	7	697_698	-		Breast(137;0.00908)	134					A8K314|B7Z5J3|B7Z9J6|Q96AW9	Frame_Shift_Ins	INS	ENST00000319349.5	37	c.399_400insC	CCDS11465.1																																																																																				0.579	ETV4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453489.1	NM_001986		7	74						7	74	---	---	---	---
CA10	56934	broad.mit.edu	37	17	50008356	50008357	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr17:50008356_50008357insC	ENST00000285273.4	-	4	1383_1384	c.272_273insG	c.(271-273)ggcfs	p.G91fs	CA10_ENST00000442502.2_Frame_Shift_Ins_p.G91fs|CA10_ENST00000570565.1_Frame_Shift_Ins_p.G16fs|CA10_ENST00000451037.2_Frame_Shift_Ins_p.G91fs|CA10_ENST00000340813.6_Frame_Shift_Ins_p.G97fs	NM_001082533.1	NP_001076002.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	91					brain development (GO:0007420)			p.G91V(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		Zonisamide(DB00909)	TTACCTTCCTGCCCCCCGTGTT	0.49																																						ENST00000451037.2																			1	Substitution - Missense(1)	p.G91V(1)	lung(1)	cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41						c.(271-273)gagfs		carbonic anhydrase X																																				SO:0001589	frameshift_variant	56934				brain development			g.chr17:50008356_50008357insC	AF288385	CCDS32684.1	17q21	2012-08-21			ENSG00000154975	ENSG00000154975		"""Carbonic anhydrases"""	1369	protein-coding gene	gene with protein product		604642				8673298, 9921901	Standard	NM_020178		Approved	CARPX, CA-RPX, HUCEP-15	uc002itx.4	Q9NS85	OTTHUMG00000177544	ENST00000285273.4:c.273dupG	17.37:g.50008362_50008362dupC	ENSP00000285273:p.Gly91fs					CA10_ENST00000442502.2_Frame_Shift_Ins_p.E91fs|CA10_ENST00000340813.6_Frame_Shift_Ins_p.E97fs|CA10_ENST00000570565.1_Frame_Shift_Ins_p.E16fs|CA10_ENST00000285273.4_Frame_Shift_Ins_p.E91fs	p.E91fs	NM_020178.4	NP_064563.1	Q9NS85	CAH10_HUMAN	BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		3	1212_1213	-			91					B2R7J0|B4DGL6	Frame_Shift_Ins	INS	ENST00000285273.4	37	c.272_273insG	CCDS32684.1																																																																																				0.490	CA10-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000437480.1	NM_020178		8	349						8	349	---	---	---	---
MTMR4	9110	broad.mit.edu	37	17	56590245	56590246	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr17:56590245_56590246insG	ENST00000323456.5	-	3	184_185	c.60_61insC	c.(58-63)cccaagfs	p.K21fs	MTMR4_ENST00000579925.1_Frame_Shift_Ins_p.K21fs	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	21					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)	p.K21fs*20(1)		breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ACTAGTTCCTTGGGGGGGAACA	0.569																																						ENST00000323456.5																			1	Insertion - Frameshift(1)	p.K21fs*20(1)	large_intestine(1)	breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36						c.(58-63)ccaggafs		myotubularin related protein 4																																				SO:0001589	frameshift_variant	9110					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity	g.chr17:56590245_56590246insG	AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.61dupC	17.37:g.56590252_56590252dupG	ENSP00000325285:p.Lys21fs					MTMR4_ENST00000579925.1_Frame_Shift_Ins_p.G21fs	p.G21fs	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN			3	184_185	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		21					D3DTZ6|Q8IV27|Q9Y4D5	Frame_Shift_Ins	INS	ENST00000323456.5	37	c.60_61insC	CCDS11608.1																																																																																				0.569	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444721.1	NM_004687		7	163						7	163	---	---	---	---
CDH19	28513	broad.mit.edu	37	18	64235860	64235860	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr18:64235860delT	ENST00000540086.1	-	3	529	c.283delA	c.(283-285)agafs	p.R95fs	CDH19_ENST00000262150.2_Frame_Shift_Del_p.R95fs	NM_001271028.1	NP_001257957.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	196	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				TCACCTGTTCTTTCATCAATG	0.418																																						ENST00000262150.2																			0				NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61						c.(283-285)gafs		cadherin 19, type 2							113.0	110.0	111.0					18																	64235860		2203	4299	6502	SO:0001589	frameshift_variant	28513				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:64235860delT	AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"""Cadherins / Major cadherins"""	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000540086.1:c.283delA	18.37:g.64235860delT	ENSP00000439593:p.Arg95fs					CDH19_ENST00000540086.1_Frame_Shift_Del_p.R95fs	p.R95fs	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN			3	575	-		Esophageal squamous(42;0.0132)	95			Cadherin 1.		O15098	Frame_Shift_Del	DEL	ENST00000540086.1	37	c.283delA	CCDS59325.1																																																																																				0.418	CDH19-005	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000442285.1	NM_021153		16	62						16	62	---	---	---	---
DNMT1	1786	broad.mit.edu	37	19	10291083	10291084	+	Frame_Shift_Ins	INS	-	-	G	rs369470867		TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr19:10291083_10291084insG	ENST00000340748.4	-	4	622_623	c.387_388insC	c.(385-390)cccaaafs	p.K130fs	DNMT1_ENST00000359526.4_Frame_Shift_Ins_p.K130fs|DNMT1_ENST00000540357.1_Frame_Shift_Ins_p.K130fs			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	130	Interaction with DNMT3A.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	GAAAGGGGTTTGGGGGGGCTGT	0.495																																						ENST00000340748.4																			0				breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70						c.(385-390)ccaaccfs		DNA (cytosine-5-)-methyltransferase 1	Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)																																			SO:0001589	frameshift_variant	1786				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding	g.chr19:10291083_10291084insG	X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.388dupC	19.37:g.10291090_10291090dupG	ENSP00000345739:p.Lys130fs					DNMT1_ENST00000540357.1_Frame_Shift_Ins_p.T130fs|DNMT1_ENST00000359526.4_Frame_Shift_Ins_p.T130fs	p.T130fs			P26358	DNMT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		4	622_623	-			130			Interaction with DNMT3A.|Interaction with the PRC2/EED-EZH2 complex (By similarity).		A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Frame_Shift_Ins	INS	ENST00000340748.4	37	c.387_388insC	CCDS12228.1																																																																																				0.495	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379		10	163						10	163	---	---	---	---
TSHZ3	57616	broad.mit.edu	37	19	31769061	31769062	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr19:31769061_31769062insC	ENST00000240587.4	-	2	1964_1965	c.1637_1638insG	c.(1636-1638)ggcfs	p.G546fs		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	546					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TGCTGGGATAGCCCCCCCAGCT	0.559																																						ENST00000240587.4																			0				breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123						c.(1636-1638)gtafs		teashirt zinc finger homeobox 3				4,4260		0,4,2128						4.2	1.0			120	7,8247		0,7,4120	no	frameshift	TSHZ3	NM_020856.2		0,11,6248	A1A1,A1R,RR		0.0848,0.0938,0.0879				11,12507				SO:0001589	frameshift_variant	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31769061_31769062insC	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.1638dupG	19.37:g.31769068_31769068dupC	ENSP00000240587:p.Gly546fs						p.V546fs	NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN			2	1964_1965	-	Esophageal squamous(110;0.226)		546					Q9H0G6|Q9P254	Frame_Shift_Ins	INS	ENST00000240587.4	37	c.1637_1638insG	CCDS12421.2																																																																																				0.559	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		7	131						7	131	---	---	---	---
PSG7	5676	broad.mit.edu	37	19	43439519	43439520	+	RNA	INS	-	-	C	rs59911953	byFrequency	TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr19:43439519_43439520insC	ENST00000406070.2	-	0	527				PSG7_ENST00000471557.1_RNA|PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				AATGACCCCTGCCCCCCAACAC	0.515																																						ENST00000446844.3																			0													pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)																																						5676				female pregnancy	extracellular region		g.chr19:43439519_43439520insC			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9524	protein-coding gene	gene with protein product		176396	"""pregnancy specific beta-1-glycoprotein 7"""				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43439525_43439525dupC						PSG7_ENST00000406070.2_RNA				Q13046	PSG7_HUMAN			0	520	-		Prostate(69;0.00682)						Q15232	RNA	INS	ENST00000406070.2	37																																																																																						0.515	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650		9	299						9	299	---	---	---	---
NAPSA	9476	broad.mit.edu	37	19	50862305	50862306	+	Frame_Shift_Ins	INS	-	-	C	rs557448259|rs568951683	byFrequency	TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr19:50862305_50862306insC	ENST00000253719.2	-	8	1205_1206	c.997_998insG	c.(997-999)gtcfs	p.V333fs	NR1H2_ENST00000600978.1_Intron|NR1H2_ENST00000542413.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	333					membrane protein proteolysis (GO:0033619)|proteolysis (GO:0006508)|surfactant homeostasis (GO:0043129)	alveolar lamellar body (GO:0097208)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	aspartic-type endopeptidase activity (GO:0004190)|endopeptidase activity (GO:0004175)|peptidase activity (GO:0008233)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		GTTAAACCAGACCCCCCCAAGA	0.53													CCCCCCC|CCCCCCC|CCCCCCCC|insertion	5	0.000998403	0.0	0.0	5008	,	,		18990	0.003		0.001	False		,,,				2504	0.001					ENST00000253719.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						c.(997-999)ctgfs		napsin A aspartic peptidase																																				SO:0001589	frameshift_variant	9476				proteolysis	extracellular region	aspartic-type endopeptidase activity	g.chr19:50862305_50862306insC	AF090386	CCDS12794.1	19q13.33	2011-08-25				ENSG00000131400			13395	protein-coding gene	gene with protein product	"""kidney-derived aspartic protease-like protein"""	605631					Standard	NM_004851		Approved	NAP1, NAPA, Kdap, KAP	uc002prx.3	O96009		ENST00000253719.2:c.998dupG	19.37:g.50862312_50862312dupC	ENSP00000253719:p.Val333fs					NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000600978.1_Intron	p.L333fs	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)	8	1205_1206	-		all_neural(266;0.057)	333					Q8WWD9	Frame_Shift_Ins	INS	ENST00000253719.2	37	c.997_998insG	CCDS12794.1																																																																																				0.530	NAPSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464714.1	NM_004851		9	203						9	203	---	---	---	---
RALGAPB	57148	broad.mit.edu	37	20	37146232	37146233	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr20:37146232_37146233insC	ENST00000262879.6	+	8	1419_1420	c.1135_1136insC	c.(1135-1137)accfs	p.T379fs	RALGAPB_ENST00000397042.3_Frame_Shift_Ins_p.T379fs|RALGAPB_ENST00000537204.1_Frame_Shift_Ins_p.T379fs|MIR548O2_ENST00000583129.1_RNA|RALGAPB_ENST00000397038.1_Frame_Shift_Ins_p.T157fs|RALGAPB_ENST00000397040.1_Frame_Shift_Ins_p.T379fs			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	379					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.H382fs*2(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TGTCAGTACCACCCCCCCACAT	0.446																																						ENST00000262879.6																			1	Insertion - Frameshift(1)	p.H382fs*2(1)	lung(1)	breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						c.(1135-1137)cccfs		Ral GTPase activating protein, beta subunit (non-catalytic)																																				SO:0001589	frameshift_variant	57148				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:37146232_37146233insC	AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.1142dupC	20.37:g.37146239_37146239dupC	ENSP00000262879:p.Thr379fs					RALGAPB_ENST00000397042.3_Frame_Shift_Ins_p.P379fs|RALGAPB_ENST00000537204.1_Frame_Shift_Ins_p.P379fs|RALGAPB_ENST00000397038.1_Frame_Shift_Ins_p.P157fs|RALGAPB_ENST00000397040.1_Frame_Shift_Ins_p.P379fs	p.P379fs			Q86X10	RLGPB_HUMAN			8	1419_1420	+			379					A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Frame_Shift_Ins	INS	ENST00000262879.6	37	c.1135_1136insC	CCDS13305.1																																																																																				0.446	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336		9	112						9	112	---	---	---	---
THOC5	8563	broad.mit.edu	37	22	29925230	29925231	+	Splice_Site	INS	-	-	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr22:29925230_29925231insG	ENST00000490103.1	-	9	970		c.e9-2		THOC5_ENST00000397873.2_Splice_Site|THOC5_ENST00000397871.1_Splice_Site|THOC5_ENST00000397872.1_Splice_Site|CTA-256D12.11_ENST00000411969.1_RNA	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5						blastocyst development (GO:0001824)|cell morphogenesis (GO:0000902)|monocyte differentiation (GO:0030224)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of macrophage differentiation (GO:0045650)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|primitive hemopoiesis (GO:0060215)|regulation of mRNA export from nucleus (GO:0010793)|regulation of stem cell division (GO:2000035)|RNA splicing (GO:0008380)|stem cell division (GO:0017145)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	mRNA binding (GO:0003729)			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ACGTCTTATCTGGGGGGCAAGA	0.535																																						ENST00000490103.1																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.e9-2		THO complex 5			,,,	0,4264		0,0,2132					,,,	5.4	1.0			108	1,8253		0,1,4126	no	splice-3,splice-3,splice-3,splice-3	THOC5	NM_003678.4,NM_001002879.1,NM_001002878.1,NM_001002877.1	,,,	0,1,6258	A1A1,A1R,RR		0.0121,0.0,0.0080	,,,	,,,		1,12517				SO:0001630	splice_region_variant	8563				intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding	g.chr22:29925230_29925231insG	AB023200	CCDS13859.1	22q12	2013-02-11			ENSG00000100296	ENSG00000100296		"""THO complex subunits"""	19074	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 79"""	612733	"""chromosome 22 open reading frame 19"""	C22orf19		11979277, 8242058, 10231032, 19015024, 18373705	Standard	NM_003678		Approved	PK1.3, KIAA0983, Fmip, fSAP79	uc003afs.3	Q13769	OTTHUMG00000151291	ENST00000490103.1:c.848-2->C	22.37:g.29925236_29925236dupG						CTA-256D12.11_ENST00000411969.1_RNA|THOC5_ENST00000397871.1_Splice_Site|THOC5_ENST00000397872.1_Splice_Site|THOC5_ENST00000397873.2_Splice_Site		NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN			9	970	-								O60839|Q9UPZ5	Splice_Site	INS	ENST00000490103.1	37		CCDS13859.1																																																																																				0.535	THOC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322097.1	NM_003678	Intron	9	343						9	343	---	---	---	---
TFE3	7030	broad.mit.edu	37	X	48887951	48887952	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chrX:48887951_48887952insC	ENST00000315869.7	-	10	1704_1705	c.1445_1446insG	c.(1444-1446)ggafs	p.G482fs	TFE3_ENST00000487451.1_5'Flank	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	482					humoral immune response (GO:0006959)|positive regulation of cell adhesion (GO:0045785)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of osteoclast differentiation (GO:0045670)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						TCTGGGCAGGTCCCCCCCCTAC	0.649			T	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""	"""papillary renal, alveolar soft part sarcoma, renal"""																																	ENST00000315869.7				Dom	yes		X	Xp11.22	7030	T	transcription factor binding to IGHM enhancer 3			E	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""		"""papillary renal, alveolar soft part sarcoma, renal"""	NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	0				central_nervous_system(1)	1						c.(1444-1446)gccfs		transcription factor binding to IGHM enhancer 3																																				SO:0001589	frameshift_variant	7030				humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chrX:48887951_48887952insC	X96717	CCDS14315.3	Xp11.22	2013-05-21			ENSG00000068323	ENSG00000068323		"""Basic helix-loop-helix proteins"""	11752	protein-coding gene	gene with protein product	transcription factor E family, member A	314310				1672758, 1685140	Standard	NM_006521		Approved	TFEA, bHLHe33	uc004dmb.3	P19532	OTTHUMG00000022690	ENST00000315869.7:c.1446dupG	X.37:g.48887959_48887959dupC	ENSP00000314129:p.Gly482fs					TFE3_ENST00000493583.1_5'UTR	p.A482fs	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN			10	1704_1705	-			482					A8MZL6|Q5JU74|Q92757|Q92758|Q99964	Frame_Shift_Ins	INS	ENST00000315869.7	37	c.1445_1446insG	CCDS14315.3																																																																																				0.649	TFE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058872.2	NM_006521		7	102						7	102	---	---	---	---
MAP7D3	79649	broad.mit.edu	37	X	135314193	135314194	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chrX:135314193_135314194insG	ENST00000316077.9	-	8	1142_1143	c.922_923insC	c.(922-924)cagfs	p.Q308fs	MAP7D3_ENST00000370661.1_Frame_Shift_Ins_p.Q273fs|MAP7D3_ENST00000370663.5_Frame_Shift_Ins_p.Q290fs	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	308					microtubule cytoskeleton organization (GO:0000226)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					CACATTCACCTGGGGGGGTGCA	0.535																																						ENST00000316077.9																			0				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44						c.(922-924)ggtfs		MAP7 domain containing 3																																				SO:0001589	frameshift_variant	79649					cytoplasm|spindle		g.chrX:135314193_135314194insG	AL832120	CCDS44004.1, CCDS55508.1, CCDS55509.1	Xq26.3	2014-08-13			ENSG00000129680	ENSG00000129680			25742	protein-coding gene	gene with protein product		300930				24927501	Standard	NM_001173516		Approved	FLJ12649	uc004ezt.3	Q8IWC1	OTTHUMG00000022507	ENST00000316077.9:c.923dupC	X.37:g.135314200_135314200dupG	ENSP00000318086:p.Gln308fs					MAP7D3_ENST00000370663.5_Frame_Shift_Ins_p.G290fs|MAP7D3_ENST00000370661.1_Frame_Shift_Ins_p.G273fs	p.G308fs	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN			8	1142_1143	-	Acute lymphoblastic leukemia(192;0.000127)		308					A2A2J0|A6NCZ7|A6NHR4|B4DWD2|H7BY77|Q5JXI5|Q5JXI6|Q6P2S1|Q9H9M8	Frame_Shift_Ins	INS	ENST00000316077.9	37	c.922_923insC	CCDS44004.1																																																																																				0.535	MAP7D3-001	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058487.2			9	155						9	155	---	---	---	---
SPEN	23013	broad.mit.edu	37	1	16262679	16262680	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr1:16262679_16262680insC	ENST00000375759.3	+	11	10148_10149	c.9944_9945insC	c.(9943-9948)caccccfs	p.HP3315fs		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3315	Pro-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CGCACCTACCACCCCCCGGCCC	0.629																																						ENST00000375759.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149						c.(9943-9945)cccfs		spen family transcriptional repressor																																				SO:0001589	frameshift_variant	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16262679_16262680insC		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.9950dupC	1.37:g.16262685_16262685dupC	ENSP00000364912:p.His3315fs						p.P3315fs	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	10148_10149	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	3315			Pro-rich.		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Frame_Shift_Ins	INS	ENST00000375759.3	37	c.9944_9945insC	CCDS164.1																																																																																				0.629	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		13	398						13	398	---	---	---	---
ATP6V1B1	525	broad.mit.edu	37	2	71191572	71191573	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr2:71191572_71191573insC	ENST00000234396.4	+	12	1221_1222	c.1148_1149insC	c.(1147-1152)taccccfs	p.YP383fs	ATP6V1B1_ENST00000412314.1_Frame_Shift_Ins_p.YP366fs|AC007040.11_ENST00000606025.1_Intron|RN7SL160P_ENST00000468558.2_RNA	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1	383					ATP hydrolysis coupled proton transport (GO:0015991)|ATP metabolic process (GO:0046034)|calcium ion homeostasis (GO:0055074)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|pH reduction (GO:0045851)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	ATP binding (GO:0005524)|hydrogen ion transmembrane transporter activity (GO:0015078)|hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances (GO:0016820)			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						CCTCAGATCTACCCCCCCATCA	0.545											OREG0014686	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000234396.4																			0				endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						c.(1147-1149)tccfs		ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1																																				SO:0001589	frameshift_variant	525				ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chr2:71191572_71191573insC	AF107466	CCDS1912.1	2p13	2010-04-21	2008-07-31	2002-05-10	ENSG00000116039	ENSG00000116039	3.6.3.14	"""ATPases / V-type"""	853	protein-coding gene	gene with protein product	"""Renal tubular acidosis with deafness"""	192132	"""vacuolar proton pump 3"""	VPP3, ATP6B1		9916796, 2527371	Standard	XM_005264368		Approved	VATB, RTA1B, Vma2	uc002shj.3	P15313	OTTHUMG00000129711	ENST00000234396.4:c.1155dupC	2.37:g.71191579_71191579dupC	ENSP00000234396:p.Tyr383fs		OREG0014686	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1128	AC007040.11_ENST00000606025.1_Intron|ATP6V1B1_ENST00000412314.1_Frame_Shift_Ins_p.S366fs	p.S383fs	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN			12	1221_1222	+			383					Q53FY0|Q6P4H6	Frame_Shift_Ins	INS	ENST00000234396.4	37	c.1148_1149insC	CCDS1912.1																																																																																				0.545	ATP6V1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251920.2	NM_001692		9	137						9	137	---	---	---	---
PBRM1	55193	broad.mit.edu	37	3	52610585	52610585	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr3:52610585delT	ENST00000296302.7	-	22	3664	c.3663delA	c.(3661-3663)gaafs	p.E1222fs	PBRM1_ENST00000409767.1_Frame_Shift_Del_p.E1237fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.E1237fs|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.E1197fs|PBRM1_ENST00000356770.4_Frame_Shift_Del_p.E1190fs|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.E1222fs|PBRM1_ENST00000394830.3_Frame_Shift_Del_p.E1197fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.E1222fs			Q86U86	PB1_HUMAN	polybromo 1	1222	BAH 2. {ECO:0000255|PROSITE- ProRule:PRU00370}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GGCAGGTTTCTTCCAGATTAC	0.378			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																	ENST00000356770.4				Rec	yes		3	3p21	55193	"""Mis, N, F, S, D, O"""	polybromo 1			E			"""clear cell renal carcinoma, breast"""		0				breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335						c.(3565-3567)gafs		polybromo 1							136.0	131.0	133.0					3																	52610585		2203	4300	6503	SO:0001589	frameshift_variant	55193				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	g.chr3:52610585delT	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.3663delA	3.37:g.52610585delT	ENSP00000296302:p.Glu1222fs					PBRM1_ENST00000409114.3_Frame_Shift_Del_p.E1237fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.E1222fs|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.E1222fs|PBRM1_ENST00000296302.7_Frame_Shift_Del_p.E1222fs|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.E1197fs|PBRM1_ENST00000409767.1_Frame_Shift_Del_p.E1237fs|PBRM1_ENST00000394830.3_Frame_Shift_Del_p.E1197fs	p.E1190fs			Q86U86	PB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	21	3569	-			1222			BAH 2.		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Del	DEL	ENST00000296302.7	37	c.3567delA																																																																																					0.378	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		26	49						26	49	---	---	---	---
EVC	2121	broad.mit.edu	37	4	5798782	5798782	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr4:5798782delG	ENST00000264956.6	+	14	2104	c.1920delG	c.(1918-1920)ctgfs	p.L642fs	EVC_ENST00000515113.1_3'UTR|EVC_ENST00000382674.2_Frame_Shift_Del_p.L642fs	NM_153717.2	NP_714928.1	P57679	EVC_HUMAN	Ellis van Creveld syndrome	642					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)				GGCATGACCTGCTGTTGCGCT	0.647																																						ENST00000382674.2																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28						c.(1918-1920)ctfs		Ellis van Creveld syndrome							43.0	43.0	43.0					4																	5798782		2202	4300	6502	SO:0001589	frameshift_variant	2121				muscle organ development	integral to membrane		g.chr4:5798782delG	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.1920delG	4.37:g.5798782delG	ENSP00000264956:p.Leu642fs					EVC_ENST00000264956.6_Frame_Shift_Del_p.L642fs|EVC_ENST00000515113.1_3'UTR	p.L642fs			P57679	EVC_HUMAN			14	2104	+		Myeloproliferative disorder(84;0.117)	642						Frame_Shift_Del	DEL	ENST00000264956.6	37	c.1920delG	CCDS3383.1																																																																																				0.647	EVC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206859.1			19	73						19	73	---	---	---	---
DCHS2	54798	broad.mit.edu	37	4	155287426	155287426	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr4:155287426delC	ENST00000357232.4	-	5	629	c.630delG	c.(628-630)gggfs	p.G210fs	DCHS2_ENST00000339452.1_Frame_Shift_Del_p.G804fs	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	210	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AAGCCACTGTCCCATATATCC	0.473																																						ENST00000357232.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(628-630)ggfs		dachsous cadherin-related 2							181.0	156.0	165.0					4																	155287426		2203	4300	6503	SO:0001589	frameshift_variant	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155287426delC	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.630delG	4.37:g.155287426delC	ENSP00000349768:p.Gly210fs					DCHS2_ENST00000339452.1_Frame_Shift_Del_p.G804fs	p.G210fs	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	5	629	-	all_hematologic(180;0.208)	Renal(120;0.0854)	210			Cadherin 2.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Frame_Shift_Del	DEL	ENST00000357232.4	37	c.630delG	CCDS3785.1																																																																																				0.473	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		7	125						7	125	---	---	---	---
TACC2	10579	broad.mit.edu	37	10	123844479	123844479	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr10:123844479delC	ENST00000369005.1	+	4	2804	c.2464delC	c.(2464-2466)cccfs	p.P822fs	TACC2_ENST00000515603.1_Frame_Shift_Del_p.P822fs|TACC2_ENST00000515273.1_Frame_Shift_Del_p.P822fs|TACC2_ENST00000453444.2_Frame_Shift_Del_p.P822fs|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000334433.3_Frame_Shift_Del_p.P822fs	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	822					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				ATCCGAGTGGCCCCTACTATC	0.577																																						ENST00000369005.1																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(2464-2466)ccfs		transforming, acidic coiled-coil containing protein 2							103.0	103.0	103.0					10																	123844479		2203	4300	6503	SO:0001589	frameshift_variant	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123844479delC	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.2464delC	10.37:g.123844479delC	ENSP00000358001:p.Pro822fs					TACC2_ENST00000334433.3_Frame_Shift_Del_p.P822fs|TACC2_ENST00000453444.2_Frame_Shift_Del_p.P822fs|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515273.1_Frame_Shift_Del_p.P822fs|TACC2_ENST00000515603.1_Frame_Shift_Del_p.P822fs	p.P822fs	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			4	2804	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	822					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Frame_Shift_Del	DEL	ENST00000369005.1	37	c.2464delC	CCDS7626.1																																																																																				0.577	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			8	40						8	40	---	---	---	---
RP11-25I15.2	0	broad.mit.edu	37	12	43072603	43072603	+	lincRNA	DEL	T	T	-	rs372709498	byFrequency	TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr12:43072603delT	ENST00000548764.1	+	0	465																											AGAACTCTGCttttttttttt	0.413													|||unknown(HR)	2143	0.427915	0.4357	0.4049	5008	,	,		16056	0.4028		0.4145	False		,,,				2504	0.4734					ENST00000548764.1																			0																																																			0							g.chr12:43072603delT																													12.37:g.43072603delT														0	465	+									RNA	DEL	ENST00000548764.1	37																																																																																						0.413	RP11-25I15.2-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000403636.1			8	26						8	26	---	---	---	---
ASCL4	121549	broad.mit.edu	37	12	108169501	108169502	+	Frame_Shift_Ins	INS	-	-	G	rs201513808	byFrequency	TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr12:108169501_108169502insG	ENST00000342331.4	+	1	1340_1341	c.509_510insG	c.(508-513)gaggggfs	p.EG170fs		NM_203436.2	NP_982260.2	Q6XD76	ASCL4_HUMAN	achaete-scute family bHLH transcription factor 4	169					regulation of transcription from RNA polymerase II promoter (GO:0006357)|skin development (GO:0043588)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	13						GAGCCCGAGGAGGGGGGCAGCT	0.738																																					GBM(170;776 3695 11650)	ENST00000342331.4																			0				breast(2)|central_nervous_system(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	13						c.(508-510)gggfs		achaete-scute family bHLH transcription factor 4																																				SO:0001589	frameshift_variant	121549				regulation of transcription from RNA polymerase II promoter|skin development|transcription, DNA-dependent	nucleus	DNA binding	g.chr12:108169501_108169502insG	AY238895	CCDS31894.2	12q24.11	2013-10-17	2013-10-17		ENSG00000187855	ENSG00000187855		"""Basic helix-loop-helix proteins"""	24311	protein-coding gene	gene with protein product		609155	"""achaete-scute complex-like 4 (Drosophila)"", ""achaete-scute complex homolog 4 (Drosophila)"""				Standard	NM_203436		Approved	HASH4, bHLHa44	uc001tmr.3	Q6XD76	OTTHUMG00000156964	ENST00000342331.4:c.515dupG	12.37:g.108169507_108169507dupG	ENSP00000345420:p.Glu170fs						p.G170fs	NM_203436.2	NP_982260.2	Q6XD76	ASCL4_HUMAN			1	1340_1341	+			169					Q7RTS2	Frame_Shift_Ins	INS	ENST00000342331.4	37	c.509_510insG	CCDS31894.2																																																																																				0.738	ASCL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346845.1	NM_203436		2	4						2	4	---	---	---	---
PPP1R13B	23368	broad.mit.edu	37	14	104208221	104208222	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr14:104208221_104208222insG	ENST00000202556.9	-	11	2009_2010	c.1727_1728insC	c.(1726-1728)tcafs	p.S576fs	PPP1R13B_ENST00000423488.2_5'UTR|PPP1R13B_ENST00000555391.1_5'UTR	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	576	Pro-rich.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				ATATGGAACTTGAATTCACTGT	0.51																																						ENST00000202556.9																			0				endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33						c.(1726-1728)tagfs		protein phosphatase 1, regulatory subunit 13B																																				SO:0001589	frameshift_variant	23368				apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding	g.chr14:104208221_104208222insG	AB018314	CCDS41997.1	14q32.33	2013-01-10	2011-10-04		ENSG00000088808	ENSG00000088808		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	14950	protein-coding gene	gene with protein product		606455	"""protein phosphatase 1, regulatory (inhibitor) subunit 13B"""			9872452	Standard	NM_015316		Approved	p53BP2-like, KIAA0771, p85, ASPP1	uc001yof.1	Q96KQ4	OTTHUMG00000171647	ENST00000202556.9:c.1728dupC	14.37:g.104208222_104208222dupG	ENSP00000202556:p.Ser576fs					PPP1R13B_ENST00000555391.1_5'UTR|PPP1R13B_ENST00000423488.2_5'UTR	p.*576fs	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN			11	2009_2010	-		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)	576			Pro-rich.		B2RMX5|O94870	Frame_Shift_Ins	INS	ENST00000202556.9	37	c.1727_1728insC	CCDS41997.1																																																																																				0.510	PPP1R13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414591.1	NM_015316		10	52						10	52	---	---	---	---
HERC2	8924	broad.mit.edu	37	15	28478873	28478874	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr15:28478873_28478874insG	ENST00000261609.7	-	28	4395_4396	c.4287_4288insC	c.(4285-4290)cccgagfs	p.E1430fs		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.P1429P(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ACGGGATGCTCGGGGGGAAACA	0.45																																						ENST00000261609.7																			1	Substitution - coding silent(1)	p.P1429P(1)	lung(1)	NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(4285-4290)ccagcafs		HECT and RLD domain containing E3 ubiquitin protein ligase 2																																				SO:0001589	frameshift_variant	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28478873_28478874insG	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.4288dupC	15.37:g.28478879_28478879dupG	ENSP00000261609:p.Glu1430fs						p.A1430fs	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	28	4395_4396	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	1430						Frame_Shift_Ins	INS	ENST00000261609.7	37	c.4287_4288insC	CCDS10021.1																																																																																				0.450	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		8	343						8	343	---	---	---	---
CDH19	28513	broad.mit.edu	37	18	64235860	64235860	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr18:64235860delT	ENST00000540086.1	-	3	529	c.283delA	c.(283-285)agafs	p.R95fs	CDH19_ENST00000262150.2_Frame_Shift_Del_p.R95fs	NM_001271028.1	NP_001257957.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	196	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				TCACCTGTTCTTTCATCAATG	0.418																																						ENST00000262150.2																			0				NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61						c.(283-285)gafs		cadherin 19, type 2							113.0	110.0	111.0					18																	64235860		2203	4299	6502	SO:0001589	frameshift_variant	28513				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:64235860delT	AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"""Cadherins / Major cadherins"""	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000540086.1:c.283delA	18.37:g.64235860delT	ENSP00000439593:p.Arg95fs					CDH19_ENST00000540086.1_Frame_Shift_Del_p.R95fs	p.R95fs	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN			3	575	-		Esophageal squamous(42;0.0132)	95			Cadherin 1.		O15098	Frame_Shift_Del	DEL	ENST00000540086.1	37	c.283delA	CCDS59325.1																																																																																				0.418	CDH19-005	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000442285.1	NM_021153		16	62						16	62	---	---	---	---
GIPC3	126326	broad.mit.edu	37	19	3589526	3589527	+	Frame_Shift_Ins	INS	-	-	G	rs202075236	byFrequency	TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr19:3589526_3589527insG	ENST00000322315.5	+	4	723_724	c.678_679insG	c.(679-681)gggfs	p.G227fs		NM_133261.2	NP_573568.1	Q8TF64	GIPC3_HUMAN	GIPC PDZ domain containing family, member 3	227										breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCTTCGTTCTGGGGGGGCTGC	0.609																																						ENST00000322315.5																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10						c.(676-681)tcggggfs		GIPC PDZ domain containing family, member 3																																				SO:0001589	frameshift_variant	126326							g.chr19:3589526_3589527insG	AB073738	CCDS32871.1	19p13.3	2011-11-29				ENSG00000179855			18183	protein-coding gene	gene with protein product		608792	"""chromosome 19 open reading frame 64"", ""deafness, autosomal recessive 72"", ""deafness, autosomal recessive 15"""	C19orf64, DFNB72, DFNB15		11836571, 21326233	Standard	NM_133261		Approved	DFNB95	uc002lyd.4	Q8TF64		ENST00000322315.5:c.685dupG	19.37:g.3589533_3589533dupG	ENSP00000319254:p.Gly227fs						p.SG226fs	NM_133261.2	NP_573568.1	Q8TF64	GIPC3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)	4	723_724	+			226					O75227	Frame_Shift_Ins	INS	ENST00000322315.5	37	c.678_679insG	CCDS32871.1																																																																																				0.609	GIPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394577.1	NM_133261		7	59						7	59	---	---	---	---
KIZ-AS1	101929591	broad.mit.edu	37	20	21186297	21186297	+	RNA	DEL	A	A	-	rs11478463	byFrequency	TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr20:21186297delA	ENST00000591761.1	-	0	231				RP4-777D9.2_ENST00000443753.1_RNA|RP4-777D9.2_ENST00000433213.2_RNA|PLK1S1_ENST00000457464.1_RNA																							atttttatttaaaaaaaaaaa	0.423													|||unknown(HR)	2652	0.529553	0.6687	0.5029	5008	,	,		14676	0.5238		0.4672	False		,,,				2504	0.4305					ENST00000591761.1																			0																																																			101929591							g.chr20:21186297delA																													20.37:g.21186297delA						RP4-777D9.2_ENST00000443753.1_RNA|PLK1S1_ENST00000457464.1_RNA|RP4-777D9.2_ENST00000433213.2_RNA								0	231	-									RNA	DEL	ENST00000591761.1	37																																																																																						0.423	RP4-777D9.2-002	KNOWN	basic	antisense	antisense	OTTHUMT00000078258.2			3	5						3	5	---	---	---	---
PRR14L	253143	broad.mit.edu	37	22	32099548	32099549	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr22:32099548_32099549insG	ENST00000327423.6	-	6	6176_6177	c.5987_5988insC	c.(5986-5988)ccafs	p.P1996fs	PRR14L_ENST00000397493.2_Frame_Shift_Ins_p.P1996fs|PRR14L_ENST00000434485.1_Frame_Shift_Ins_p.P1996fs	NM_173566.2	NP_775837.2	Q5THK1	PR14L_HUMAN	proline rich 14-like	1996										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2)	14						CTTTCTGTTCTGGGGGGCTGCT	0.535																																						ENST00000327423.6																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2)	14						c.(5986-5988)cgafs		proline rich 14-like																																				SO:0001589	frameshift_variant	253143							g.chr22:32099548_32099549insG	BC040859	CCDS13900.2	22q12.2	2011-01-25	2011-01-25	2011-01-25	ENSG00000183530	ENSG00000183530			28738	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 30"""	C22orf30		12477932	Standard	NM_173566		Approved	MGC50372	uc003alp.4	Q5THK1	OTTHUMG00000030139	ENST00000327423.6:c.5988dupC	22.37:g.32099554_32099554dupG	ENSP00000331845:p.Pro1996fs					PRR14L_ENST00000397493.2_Frame_Shift_Ins_p.R1996fs|PRR14L_ENST00000434485.1_Frame_Shift_Ins_p.R1996fs	p.R1996fs	NM_173566.2	NP_775837.2	Q5THK1	PR14L_HUMAN			6	6176_6177	-			1996					Q5THK4|Q6ZNN1|Q6ZWH0|Q8IW74|Q9H5T4	Frame_Shift_Ins	INS	ENST00000327423.6	37	c.5987_5988insC	CCDS13900.2																																																																																				0.535	PRR14L-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074993.2	NM_173566		8	320						8	320	---	---	---	---
SRPX	8406	broad.mit.edu	37	X	38079976	38079978	+	In_Frame_Del	DEL	GCA	GCA	-	rs35523939|rs72249350|rs139109693		TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chrX:38079976_38079978delGCA	ENST00000378533.3	-	1	174_176	c.68_70delTGC	c.(67-72)ctgcgc>cgc	p.L23del	SRPX_ENST00000343800.6_Intron|SRPX_ENST00000538295.1_In_Frame_Del_p.L23del|SRPX_ENST00000432886.2_In_Frame_Del_p.L23del|TM4SF2_ENST00000465127.1_Intron|RP13-43E11.1_ENST00000423919.1_RNA|SRPX_ENST00000544439.1_In_Frame_Del_p.L23del	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	23			Missing. {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:8634709, ECO:0000269|PubMed:9162095}.		autophagy (GO:0006914)|cell adhesion (GO:0007155)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|phagolysosome assembly (GO:0001845)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|response to endoplasmic reticulum stress (GO:0034976)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)		p.L23delL(2)		autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						GGCGGGACGCgcagcagcagcag	0.729											OREG0019726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		636	0.168477	0.1657	0.1398	3775	,	,		8591	0.0129		0.2028	False		,,,				2504	0.1053					ENST00000378533.3																			2	Deletion - In frame(2)	p.L23delL(2)	prostate(2)	autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						c.(67-72)cgc>c		sushi-repeat containing protein, X-linked																																				SO:0001651	inframe_deletion	8406				cell adhesion	cell surface|membrane		g.chrX:38079976_38079978delGCA	U78093	CCDS14245.1, CCDS55400.1, CCDS55401.1, CCDS55402.1	Xp21.1	2011-01-25	2011-01-25		ENSG00000101955	ENSG00000101955			11309	protein-coding gene	gene with protein product		300187	"""sushi-repeat-containing protein, X chromosome"", ""sushi-repeat-containing protein, X-linked"""			8634708, 8634709	Standard	NM_006307		Approved	ETX1	uc004ddy.2	P78539	OTTHUMG00000021362	ENST00000378533.3:c.68_70delTGC	X.37:g.38079985_38079987delGCA	ENSP00000367794:p.Leu23del		OREG0019726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	875	SRPX_ENST00000343800.6_Intron|TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000432886.2_In_Frame_Del_p.LR23del|SRPX_ENST00000544439.1_In_Frame_Del_p.LR23del|SRPX_ENST00000538295.1_In_Frame_Del_p.LR23del	p.LR23del	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN			1	174_176	-			23		Missing.			A8K065|B3KWP8|B4DDB8|B4DQH5|F5H4D7|G3V1L0|Q4VX66|Q99652|Q99913	In_Frame_Del	DEL	ENST00000378533.3	37	c.68_70delTGC	CCDS14245.1																																																																																				0.729	SRPX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056243.1	NM_006307		3	3						3	3	---	---	---	---
