#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
LAMB2	3913	broad.mit.edu	37	3	49162454	49162454	+	Missense_Mutation	SNP	G	G	A	rs372148651		TCGA-V1-A9O9-01A-11D-A41K-08	TCGA-V1-A9O9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcad0c26-dab3-4bf0-9ef6-a5be33131a61	8636a67d-a41b-4d6d-ad70-2f28e9aeda6e	g.chr3:49162454G>A	ENST00000418109.1	-	21	3033	c.2869C>T	c.(2869-2871)Cgg>Tgg	p.R957W	LAMB2_ENST00000305544.4_Missense_Mutation_p.R957W|LAMB2_ENST00000464891.1_5'UTR	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	957	Laminin EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00460}.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TAGCCTGCCCGGCAGTGGCAC	0.617																																						ENST00000418109.1																			0				NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61						c.(2869-2871)Cgg>Tgg		laminin, beta 2 (laminin S)		G	TRP/ARG	0,4406		0,0,2203	62.0	69.0	67.0		2869	2.8	1.0	3		67	1,8599	1.2+/-3.3	0,1,4299	no	missense	LAMB2	NM_002292.3	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	957/1799	49162454	1,13005	2203	4300	6503	SO:0001583	missense	3913				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity	g.chr3:49162454G>A		CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"""Laminins"""	6487	protein-coding gene	gene with protein product	"""laminin S"""	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.2869C>T	3.37:g.49162454G>A	ENSP00000388325:p.Arg957Trp					LAMB2_ENST00000464891.1_5'UTR|LAMB2_ENST00000305544.4_Missense_Mutation_p.R957W	p.R957W	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	21	3033	-			957			Laminin EGF-like 9.		Q16321	Missense_Mutation	SNP	ENST00000418109.1	37	c.2869C>T	CCDS2789.1	.	.	.	.	.	.	.	.	.	.	G	15.19	2.760549	0.49468	0.0	1.16E-4	ENSG00000172037	ENST00000418109;ENST00000305544	T;T	0.63580	-0.05;-0.05	5.74	2.81	0.32909	EGF-like, laminin (4);EGF-like region, conserved site (1);	0.686963	0.14554	N	0.312507	T	0.60547	0.2277	L	0.52011	1.625	0.25126	N	0.990604	D	0.58620	0.983	P	0.47376	0.545	T	0.52749	-0.8534	10	0.72032	D	0.01	.	10.1593	0.42842	0.0728:0.0:0.5231:0.4041	.	957	P55268	LAMB2_HUMAN	W	957	ENSP00000388325:R957W;ENSP00000307156:R957W	ENSP00000307156:R957W	R	-	1	2	LAMB2	49137458	0.182000	0.23173	0.960000	0.40013	0.705000	0.40729	0.926000	0.28804	0.278000	0.22164	-0.186000	0.12905	CGG		0.617	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1	NM_002292		3	60	0	0	0	1	0	3	60				
CECR7	100130418	broad.mit.edu	37	22	17525813	17525813	+	lincRNA	SNP	C	C	T			TCGA-V1-A9O9-01A-11D-A41K-08	TCGA-V1-A9O9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcad0c26-dab3-4bf0-9ef6-a5be33131a61	8636a67d-a41b-4d6d-ad70-2f28e9aeda6e	g.chr22:17525813C>T	ENST00000441006.1	+	0	826					NR_015352.1				cat eye syndrome chromosome region, candidate 7 (non-protein coding)																		TCTGCGACACCGGGGACAGAG	0.522																																						ENST00000441006.1																			0																																																			0							g.chr22:17525813C>T	BC043198		22q11.2	2012-10-16	2009-08-21		ENSG00000237438	ENSG00000237438		"""Long non-coding RNAs"""	1845	non-coding RNA	RNA, long non-coding			"""cat eye syndrome chromosome region, candidate 7"""			11381032	Standard	NR_015352		Approved	SAHL1	uc002zlx.1		OTTHUMG00000150027		22.37:g.17525813C>T								NR_015352.1						0	826	+									RNA	SNP	ENST00000441006.1	37																																																																																						0.522	CECR7-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000315626.1	NR_015352		3	39	0	0	0	1	0	3	39				
TULP4	56995	broad.mit.edu	37	6	158924858	158924858	+	Missense_Mutation	SNP	A	A	G			TCGA-V1-A9O9-01A-11D-A41K-08	TCGA-V1-A9O9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcad0c26-dab3-4bf0-9ef6-a5be33131a61	8636a67d-a41b-4d6d-ad70-2f28e9aeda6e	g.chr6:158924858A>G	ENST00000367097.3	+	13	5520	c.4163A>G	c.(4162-4164)aAa>aGa	p.K1388R	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	1388					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		AAGAGTCAGAAAGACCAACTG	0.488																																						ENST00000367097.3																			0				endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(4162-4164)aAa>aGa		tubby like protein 4							65.0	68.0	67.0					6																	158924858		2203	4300	6503	SO:0001583	missense	56995				intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:158924858A>G		CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"""WD repeat domain containing"""	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.4163A>G	6.37:g.158924858A>G	ENSP00000356064:p.Lys1388Arg					TULP4_ENST00000367094.2_Intron	p.K1388R	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)	13	5520	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)	1388					Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Missense_Mutation	SNP	ENST00000367097.3	37	c.4163A>G	CCDS34561.1	.	.	.	.	.	.	.	.	.	.	A	19.04	3.749873	0.69533	.	.	ENSG00000130338	ENST00000367097	T	0.64438	-0.1	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.33411	0.0862	N	0.16478	0.41	0.80722	D	1	B	0.21606	0.058	B	0.25405	0.06	T	0.20773	-1.0265	10	0.31617	T	0.26	-8.9843	15.9319	0.79668	1.0:0.0:0.0:0.0	.	1388	Q9NRJ4	TULP4_HUMAN	R	1388	ENSP00000356064:K1388R	ENSP00000356064:K1388R	K	+	2	0	TULP4	158844846	1.000000	0.71417	0.974000	0.42286	0.974000	0.67602	6.912000	0.75753	2.225000	0.72522	0.459000	0.35465	AAA		0.488	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1	NM_020245		3	23	0	0	0	1	0	3	23				
OR5T2	219464	broad.mit.edu	37	11	56000622	56000622	+	Missense_Mutation	SNP	A	A	T			TCGA-V1-A9O9-01A-11D-A41K-08	TCGA-V1-A9O9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcad0c26-dab3-4bf0-9ef6-a5be33131a61	8636a67d-a41b-4d6d-ad70-2f28e9aeda6e	g.chr11:56000622A>T	ENST00000313264.4	-	1	115	c.40T>A	c.(40-42)Ttg>Atg	p.L14M		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	14						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					CCATGACTCAAGGGGATGTTA	0.358																																						ENST00000313264.4																			0				endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41						c.(40-42)Ttg>Atg		olfactory receptor, family 5, subfamily T, member 2							131.0	124.0	127.0					11																	56000622		2201	4295	6496	SO:0001583	missense	219464				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56000622A>T	AB065838	CCDS31523.1	11q11	2012-08-09			ENSG00000181718	ENSG00000181718		"""GPCR / Class A : Olfactory receptors"""	15296	protein-coding gene	gene with protein product							Standard	NM_001004746		Approved		uc010rjc.2	Q8NGG2	OTTHUMG00000166851	ENST00000313264.4:c.40T>A	11.37:g.56000622A>T	ENSP00000323688:p.Leu14Met						p.L14M	NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN			1	115	-	Esophageal squamous(21;0.00448)		14					B9EGX5|Q6IFC8	Missense_Mutation	SNP	ENST00000313264.4	37	c.40T>A	CCDS31523.1	.	.	.	.	.	.	.	.	.	.	A	6.663	0.490773	0.12702	.	.	ENSG00000181718	ENST00000313264	T	0.00768	5.72	2.57	0.0855	0.14442	.	.	.	.	.	T	0.00496	0.0016	N	0.08118	0	0.09310	N	1	P	0.44578	0.838	B	0.38562	0.276	T	0.51212	-0.8734	9	0.87932	D	0	.	2.9143	0.05748	0.485:0.24:0.275:0.0	.	14	Q8NGG2	OR5T2_HUMAN	M	14	ENSP00000323688:L14M	ENSP00000323688:L14M	L	-	1	2	OR5T2	55757198	0.000000	0.05858	0.000000	0.03702	0.040000	0.13550	-1.596000	0.02091	0.020000	0.15106	0.375000	0.23000	TTG		0.358	OR5T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391598.1	NM_001004746		16	66	0	0	0	1	0	16	66				
FREM2	341640	broad.mit.edu	37	13	39435627	39435627	+	Missense_Mutation	SNP	C	C	A			TCGA-V1-A9O9-01A-11D-A41K-08	TCGA-V1-A9O9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcad0c26-dab3-4bf0-9ef6-a5be33131a61	8636a67d-a41b-4d6d-ad70-2f28e9aeda6e	g.chr13:39435627C>A	ENST00000280481.7	+	15	7795	c.7579C>A	c.(7579-7581)Cgc>Agc	p.R2527S		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2527					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		AGCTAAATTGCGCTACACAGG	0.458																																						ENST00000280481.7																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(7579-7581)Cgc>Agc		FRAS1 related extracellular matrix protein 2							151.0	124.0	133.0					13																	39435627		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39435627C>A	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.7579C>A	13.37:g.39435627C>A	ENSP00000280481:p.Arg2527Ser						p.R2527S	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	15	7795	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	2527					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.7579C>A	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	C	18.69	3.678172	0.68042	.	.	ENSG00000150893	ENST00000280481	T	0.20200	2.09	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.45975	0.1369	M	0.74546	2.27	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.948	T	0.46978	-0.9152	10	0.87932	D	0	.	13.2605	0.60102	0.1587:0.8413:0.0:0.0	.	2527;2527	Q5SZK8-2;Q5SZK8	.;FREM2_HUMAN	S	2527	ENSP00000280481:R2527S	ENSP00000280481:R2527S	R	+	1	0	FREM2	38333627	1.000000	0.71417	1.000000	0.80357	0.373000	0.29922	4.684000	0.61686	2.368000	0.80403	0.655000	0.94253	CGC		0.458	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		15	46	1	0	8.60227e-14	1	1.0071e-13	15	46				
MYH14	79784	broad.mit.edu	37	19	50752255	50752255	+	Silent	SNP	G	G	A			TCGA-V1-A9O9-01A-11D-A41K-08	TCGA-V1-A9O9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcad0c26-dab3-4bf0-9ef6-a5be33131a61	8636a67d-a41b-4d6d-ad70-2f28e9aeda6e	g.chr19:50752255G>A	ENST00000596571.1	+	11	1317	c.1317G>A	c.(1315-1317)gcG>gcA	p.A439A	MYH14_ENST00000425460.1_Silent_p.A447A|MYH14_ENST00000376970.2_Silent_p.A439A|MYH14_ENST00000601313.1_Silent_p.A447A|MYH14_ENST00000598205.1_Silent_p.A447A|MYH14_ENST00000440075.2_Silent_p.A447A|MYH14_ENST00000262269.8_Silent_p.A447A			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	439	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		CTGACTTCGCGCTGGAGGCCC	0.687																																						ENST00000440075.2																			0				central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(1339-1341)gcG>gcA		myosin, heavy chain 14, non-muscle							22.0	26.0	25.0					19																	50752255		2115	4244	6359	SO:0001819	synonymous_variant	79784				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:50752255G>A	AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"""Myosins / Myosin superfamily : Class II"""	23212	protein-coding gene	gene with protein product		608568	"""myosin, heavy polypeptide 14"", ""myosin, heavy chain 14"""	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.1317G>A	19.37:g.50752255G>A						MYH14_ENST00000601313.1_Silent_p.A447A|MYH14_ENST00000598205.1_Silent_p.A447A|MYH14_ENST00000596571.1_Silent_p.A439A|MYH14_ENST00000425460.1_Silent_p.A447A|MYH14_ENST00000376970.2_Silent_p.A439A|MYH14_ENST00000262269.8_Silent_p.A447A	p.A447A			Q7Z406	MYH14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)	13	1388	+		all_neural(266;0.0571)|Ovarian(192;0.0728)	439			Myosin head-like.		B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Silent	SNP	ENST00000596571.1	37	c.1341G>A	CCDS59411.1																																																																																				0.687	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729		3	17	0	0	0	1	0	3	17				
OR5W2	390148	broad.mit.edu	37	11	55681766	55681766	+	Missense_Mutation	SNP	G	G	T			TCGA-V1-A9O9-01A-11D-A41K-08	TCGA-V1-A9O9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcad0c26-dab3-4bf0-9ef6-a5be33131a61	8636a67d-a41b-4d6d-ad70-2f28e9aeda6e	g.chr11:55681766G>T	ENST00000344514.1	-	1	292	c.293C>A	c.(292-294)gCt>gAt	p.A98D		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	98						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GAATTGCAGAGCACAGCCATA	0.473																																					Melanoma(48;171 1190 15239 43886 49348)	ENST00000344514.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(292-294)gCt>gAt		olfactory receptor, family 5, subfamily W, member 2							132.0	127.0	129.0					11																	55681766		2201	4296	6497	SO:0001583	missense	390148				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55681766G>T	BK004398	CCDS31513.1	11q11	2012-08-09		2004-03-10	ENSG00000187612	ENSG00000187612		"""GPCR / Class A : Olfactory receptors"""	15299	protein-coding gene	gene with protein product				OR5W2P, OR5W3P			Standard	NM_001001960		Approved		uc010rir.2	Q8NH69	OTTHUMG00000166818	ENST00000344514.1:c.293C>A	11.37:g.55681766G>T	ENSP00000342448:p.Ala98Asp						p.A98D	NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN			1	292	-			98						Missense_Mutation	SNP	ENST00000344514.1	37	c.293C>A	CCDS31513.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.544412	0.65198	.	.	ENSG00000187612	ENST00000344514	T	0.00406	7.55	5.01	2.77	0.32553	GPCR, rhodopsin-like superfamily (1);	0.184941	0.26163	N	0.025974	T	0.00936	0.0031	M	0.92604	3.325	0.31371	N	0.680114	P	0.48694	0.914	P	0.52957	0.714	T	0.08006	-1.0743	10	0.72032	D	0.01	.	6.467	0.21987	0.3658:0.0:0.6342:0.0	.	98	Q8NH69	OR5W2_HUMAN	D	98	ENSP00000342448:A98D	ENSP00000342448:A98D	A	-	2	0	OR5W2	55438342	0.000000	0.05858	0.937000	0.37676	0.920000	0.55202	0.349000	0.20055	0.308000	0.22923	0.549000	0.68633	GCT		0.473	OR5W2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391523.1	NM_001001960		9	42	1	0	2.74318e-10	1	3.06215e-10	9	42				
IFNA14	3448	broad.mit.edu	37	9	21239506	21239506	+	Silent	SNP	C	C	T			TCGA-V1-A9O9-01A-11D-A41K-08	TCGA-V1-A9O9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcad0c26-dab3-4bf0-9ef6-a5be33131a61	8636a67d-a41b-4d6d-ad70-2f28e9aeda6e	g.chr9:21239506C>T	ENST00000380222.2	-	1	472	c.429G>A	c.(427-429)gtG>gtA	p.V143V		NM_002172.2	NP_002163.2	P01570	IFN14_HUMAN	interferon, alpha 14	143					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)	11				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		AGTATTTCTTCACAGCCAGGA	0.463																																						ENST00000380222.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)	11						c.(427-429)gtG>gtA		interferon, alpha 14							218.0	220.0	219.0					9																	21239506		2203	4300	6503	SO:0001819	synonymous_variant	3448				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding	g.chr9:21239506C>T		CCDS6501.1	9p22	2010-08-24			ENSG00000228083	ENSG00000228083		"""Interferons"""	5420	protein-coding gene	gene with protein product		147579				1385305	Standard	NM_002172		Approved	LEIF2H, IFN-alphaH	uc010mis.3	P01570	OTTHUMG00000019665	ENST00000380222.2:c.429G>A	9.37:g.21239506C>T							p.V143V	NM_002172.2	NP_002163.2	P01570	IFN14_HUMAN		Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)	1	472	-			143					Q5VZ56|Q7M4S1	Silent	SNP	ENST00000380222.2	37	c.429G>A	CCDS6501.1																																																																																				0.463	IFNA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051894.1	NM_002172		74	229	0	0	0	1	0	74	229				
ZIC3	7547	broad.mit.edu	37	X	136651109	136651109	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9O9-01A-11D-A41K-08	TCGA-V1-A9O9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcad0c26-dab3-4bf0-9ef6-a5be33131a61	8636a67d-a41b-4d6d-ad70-2f28e9aeda6e	g.chrX:136651109C>T	ENST00000287538.5	+	2	1659	c.1109C>T	c.(1108-1110)gCc>gTc	p.A370V	ZIC3_ENST00000370606.3_Missense_Mutation_p.A370V|ZIC3_ENST00000478471.1_3'UTR	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	370					anterior/posterior pattern specification (GO:0009952)|cell differentiation (GO:0030154)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of left/right asymmetry in nervous system (GO:0035545)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|heart looping (GO:0001947)|lung development (GO:0030324)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					AGACGCTTTGCCAACAGCAGC	0.512																																						ENST00000287538.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37						c.(1108-1110)gCc>gTc		Zic family member 3							206.0	185.0	192.0					X																	136651109		2203	4300	6503	SO:0001583	missense	7547				cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:136651109C>T	AF028706	CCDS14663.1	Xq24-q27.1	2013-01-08	2011-05-19		ENSG00000156925	ENSG00000156925		"""Zinc fingers, C2H2-type"""	12874	protein-coding gene	gene with protein product		300265	"""heterotaxy 1"", ""Zic family member 3 (odd-paired homolog, Drosophila)"""	HTX1		8298651, 7747776	Standard	NM_003413		Approved	HTX, ZNF203	uc004fak.3	O60481	OTTHUMG00000022525	ENST00000287538.5:c.1109C>T	X.37:g.136651109C>T	ENSP00000287538:p.Ala370Val					ZIC3_ENST00000478471.1_3'UTR|ZIC3_ENST00000370606.3_Missense_Mutation_p.A370V	p.A370V	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN			2	1659	+	Acute lymphoblastic leukemia(192;0.000127)		370					B2CNW4|Q14DE5|Q5JY75	Missense_Mutation	SNP	ENST00000287538.5	37	c.1109C>T	CCDS14663.1	.	.	.	.	.	.	.	.	.	.	C	34	5.386259	0.95967	.	.	ENSG00000156925	ENST00000287538;ENST00000370606	T;T	0.07800	3.16;3.16	5.74	5.74	0.90152	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.24005	0.0581	L	0.42245	1.32	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00256	-1.1873	10	0.87932	D	0	.	17.7298	0.88374	0.0:1.0:0.0:0.0	.	370	O60481	ZIC3_HUMAN	V	370	ENSP00000287538:A370V;ENSP00000359638:A370V	ENSP00000287538:A370V	A	+	2	0	ZIC3	136478775	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.993000	0.70616	2.405000	0.81733	0.600000	0.82982	GCC		0.512	ZIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058526.1			4	171	0	0	0	1	0	4	171				
ZMYND19	116225	broad.mit.edu	37	9	140481540	140481540	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9O9-01A-11D-A41K-08	TCGA-V1-A9O9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcad0c26-dab3-4bf0-9ef6-a5be33131a61	8636a67d-a41b-4d6d-ad70-2f28e9aeda6e	g.chr9:140481540C>T	ENST00000298585.2	-	4	464	c.238G>A	c.(238-240)Gtg>Atg	p.V80M	ZMYND19_ENST00000471957.1_5'UTR	NM_138462.2	NP_612471.1	Q96E35	ZMY19_HUMAN	zinc finger, MYND-type containing 19	80						cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|synapse (GO:0045202)	metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)		CCCGGGGCCACGCCCCCCCGG	0.632																																						ENST00000298585.2																			0				endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	13						c.(238-240)Gtg>Atg		zinc finger, MYND-type containing 19							52.0	61.0	58.0					9																	140481540		2203	4298	6501	SO:0001583	missense	116225					Golgi apparatus|plasma membrane	zinc ion binding	g.chr9:140481540C>T	BC012948	CCDS7048.1	9q34.3	2008-02-05			ENSG00000165724	ENSG00000165724		"""Zinc fingers, MYND-type"""	21146	protein-coding gene	gene with protein product		611424					Standard	NM_138462		Approved	MIZIP	uc004cno.1	Q96E35	OTTHUMG00000020992	ENST00000298585.2:c.238G>A	9.37:g.140481540C>T	ENSP00000298585:p.Val80Met					ZMYND19_ENST00000471957.1_5'UTR	p.V80M	NM_138462.2	NP_612471.1	Q96E35	ZMY19_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)	4	464	-	all_cancers(76;0.106)		80					Q5T366	Missense_Mutation	SNP	ENST00000298585.2	37	c.238G>A	CCDS7048.1	.	.	.	.	.	.	.	.	.	.	C	12.91	2.080651	0.36758	.	.	ENSG00000165724	ENST00000298585	.	.	.	5.06	-1.58	0.08479	.	0.367148	0.30510	N	0.009466	T	0.25901	0.0631	N	0.22421	0.69	0.27044	N	0.963932	B	0.19817	0.039	B	0.14023	0.01	T	0.21143	-1.0254	9	0.87932	D	0	-9.9506	11.331	0.49477	0.0:0.6049:0.0:0.3951	.	80	Q96E35	ZMY19_HUMAN	M	80	.	ENSP00000298585:V80M	V	-	1	0	ZMYND19	139601361	1.000000	0.71417	0.029000	0.17559	0.793000	0.44817	1.220000	0.32491	-0.329000	0.08527	-0.140000	0.14226	GTG		0.632	ZMYND19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055356.1	NM_138462		7	51	0	0	0	1	0	7	51				
TUBB8P7	197331	broad.mit.edu	37	16	90162513	90162513	+	RNA	SNP	T	T	C			TCGA-V1-A9O9-01A-11D-A41K-08	TCGA-V1-A9O9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcad0c26-dab3-4bf0-9ef6-a5be33131a61	8636a67d-a41b-4d6d-ad70-2f28e9aeda6e	g.chr16:90162513T>C	ENST00000564451.1	+	0	1866				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.N415N(2)									GCAACATGAATGACCTGGTGT	0.537																																						ENST00000567960.1																			2	Substitution - coding silent(2)	p.N415N(2)	prostate(1)|kidney(1)																																																0							g.chr16:90162513T>C			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162513T>C						TUBB8P7_ENST00000564451.1_RNA								0	1249	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.537	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		4	90	0	0	0	1	0	4	90				
LGI2	55203	broad.mit.edu	37	4	25005538	25005538	+	Silent	SNP	G	G	A			TCGA-V1-A9O9-01A-11D-A41K-08	TCGA-V1-A9O9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcad0c26-dab3-4bf0-9ef6-a5be33131a61	8636a67d-a41b-4d6d-ad70-2f28e9aeda6e	g.chr4:25005538G>A	ENST00000382114.4	-	8	1358	c.1173C>T	c.(1171-1173)agC>agT	p.S391S		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	391						extracellular region (GO:0005576)				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				CCTGGGAGCGGCTGGACAGGA	0.507																																						ENST00000382114.4																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33						c.(1171-1173)agC>agT		leucine-rich repeat LGI family, member 2							129.0	135.0	133.0					4																	25005538		2203	4300	6503	SO:0001819	synonymous_variant	55203					extracellular region		g.chr4:25005538G>A	AJ487516	CCDS3431.1	4p15.31	2008-07-28			ENSG00000153012	ENSG00000153012			18710	protein-coding gene	gene with protein product		608301				12023020, 16014869	Standard	NM_018176		Approved	KIAA1916, FLJ10675	uc003grf.2	Q8N0V4	OTTHUMG00000097749	ENST00000382114.4:c.1173C>T	4.37:g.25005538G>A							p.S391S	NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN			8	1358	-		Breast(46;0.173)	391					Q3MIN2|Q8NDW6|Q96PX2|Q9NVK4	Silent	SNP	ENST00000382114.4	37	c.1173C>T	CCDS3431.1																																																																																				0.507	LGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214978.1			4	110	0	0	0	1	0	4	110				
C16orf70	80262	broad.mit.edu	37	16	67183794	67183794	+	IGR	SNP	C	C	T			TCGA-V1-A9O9-01A-11D-A41K-08	TCGA-V1-A9O9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcad0c26-dab3-4bf0-9ef6-a5be33131a61	8636a67d-a41b-4d6d-ad70-2f28e9aeda6e	g.chr16:67183794C>T	ENST00000219139.3	+	0	2865				B3GNT9_ENST00000449549.3_Missense_Mutation_p.D199N	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70											cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		AAAAAGGTGTCGTCGAAGGCC	0.622																																						ENST00000449549.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						c.(595-597)Gac>Aac		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9							37.0	39.0	38.0					16																	67183794		2018	4187	6205	SO:0001628	intergenic_variant	84752				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity	g.chr16:67183794C>T	AK022138	CCDS10828.1	16q22.1	2011-01-25	2006-04-12	2006-04-12	ENSG00000125149	ENSG00000125149			29564	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 6"""	C16orf6, LIN10		12477932	Standard	NM_025187		Approved	lin-10, FLJ12076	uc002erd.3	Q9BSU1	OTTHUMG00000137510		16.37:g.67183794C>T							p.D199N	NM_033309.2	NP_171608.2	Q6UX72	B3GN9_HUMAN			2	1130	-			199					Q9HA86	Missense_Mutation	SNP	ENST00000219139.3	37	c.595G>A	CCDS10828.1	.	.	.	.	.	.	.	.	.	.	c	36	5.606646	0.96626	.	.	ENSG00000237172	ENST00000449549	T	0.60299	0.2	4.74	4.74	0.60224	.	.	.	.	.	T	0.82015	0.4945	M	0.94101	3.495	0.52099	D	0.999944	D	0.89917	1.0	D	0.91635	0.999	D	0.87440	0.2394	9	0.87932	D	0	-17.8211	16.3133	0.82905	0.0:1.0:0.0:0.0	.	199	Q6UX72	B3GN9_HUMAN	N	199	ENSP00000400157:D199N	ENSP00000400157:D199N	D	-	1	0	B3GNT9	65741295	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.715000	0.84713	2.188000	0.69820	0.556000	0.70494	GAC		0.622	C16orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268829.2	NM_025187		3	17	0	0	0	1	0	3	17				
FLNC	2318	broad.mit.edu	37	7	128493622	128493622	+	Missense_Mutation	SNP	C	C	A			TCGA-V1-A9O9-01A-11D-A41K-08	TCGA-V1-A9O9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcad0c26-dab3-4bf0-9ef6-a5be33131a61	8636a67d-a41b-4d6d-ad70-2f28e9aeda6e	g.chr7:128493622C>A	ENST00000325888.8	+	38	6569	c.6308C>A	c.(6307-6309)aCc>aAc	p.T2103N	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.T2070N	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2103					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TACTGCCCCACCGAGCCCGGC	0.582																																						ENST00000325888.8																			0				biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						c.(6307-6309)aCc>aAc		filamin C, gamma							99.0	108.0	105.0					7																	128493622		2072	4203	6275	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128493622C>A	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.6308C>A	7.37:g.128493622C>A	ENSP00000327145:p.Thr2103Asn					RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.T2070N	p.T2103N	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN			38	6569	+			2103					B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.6308C>A	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.053668	0.75960	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.85013	-1.93;-1.93	5.42	4.54	0.55810	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.93546	0.7940	M	0.91612	3.225	0.53688	D	0.999973	D;D	0.64830	0.994;0.992	D;D	0.85130	0.997;0.99	D	0.94562	0.7763	10	0.72032	D	0.01	.	13.9954	0.64392	0.0:0.9272:0.0:0.0728	.	2070;2103	Q14315-2;Q14315	.;FLNC_HUMAN	N	2103;2070	ENSP00000327145:T2103N;ENSP00000344002:T2070N	ENSP00000327145:T2103N	T	+	2	0	FLNC	128280858	1.000000	0.71417	0.713000	0.30519	0.940000	0.58332	7.792000	0.85828	1.290000	0.44636	0.561000	0.74099	ACC		0.582	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			5	26	1	0	1.23904e-05	1	1.29291e-05	5	26				
UBE2F	140739	broad.mit.edu	37	2	238940869	238940869	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9O9-01A-11D-A41K-08	TCGA-V1-A9O9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcad0c26-dab3-4bf0-9ef6-a5be33131a61	8636a67d-a41b-4d6d-ad70-2f28e9aeda6e	g.chr2:238940869G>A	ENST00000272930.4	+	8	612	c.418G>A	c.(418-420)Gtt>Att	p.V140I	UBE2F_ENST00000409633.1_Missense_Mutation_p.V140I|UBE2F_ENST00000409953.1_Missense_Mutation_p.V116I|UBE2F_ENST00000409332.1_Missense_Mutation_p.V118I|UBE2F-SCLY_ENST00000449191.1_Intron|UBE2F_ENST00000414443.1_Missense_Mutation_p.V108I	NM_001278305.1|NM_080678.2	NP_001265234.1|NP_542409.1	Q969M7	UBE2F_HUMAN	ubiquitin-conjugating enzyme E2F (putative)	140					protein neddylation (GO:0045116)		ATP binding (GO:0005524)|NEDD8 ligase activity (GO:0019788)			endometrium(1)|large_intestine(1)	2		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;6.7e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|Kidney(56;3.53e-09)|KIRC - Kidney renal clear cell carcinoma(57;9.79e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000136)|Lung(119;0.0126)|LUSC - Lung squamous cell carcinoma(224;0.0301)		TCAGGATGTCGTTTGGGGATT	0.338																																						ENST00000272930.4																			0				endometrium(1)|large_intestine(1)	2						c.(418-420)Gtt>Att		ubiquitin-conjugating enzyme E2F (putative)							125.0	115.0	118.0					2																	238940869		2203	4299	6502	SO:0001583	missense	140739				protein neddylation		ATP binding|NEDD8 ligase activity|protein binding	g.chr2:238940869G>A	BC010549	CCDS2523.1, CCDS63175.1, CCDS63176.1, CCDS63177.1	2q37.3	2008-02-05	2005-12-15		ENSG00000184182	ENSG00000184182		"""Ubiquitin-conjugating enzymes E2"""	12480	protein-coding gene	gene with protein product	"""NEDD8 conjugating enzyme"""					12477932	Standard	NM_080678		Approved	NCE2	uc031rrz.1	Q969M7	OTTHUMG00000133341	ENST00000272930.4:c.418G>A	2.37:g.238940869G>A	ENSP00000272930:p.Val140Ile					UBE2F_ENST00000414443.1_Missense_Mutation_p.V108I|UBE2F_ENST00000409633.1_Missense_Mutation_p.V140I|UBE2F_ENST00000409332.1_Missense_Mutation_p.V118I|UBE2F-SCLY_ENST00000449191.1_Intron|UBE2F_ENST00000409953.1_Missense_Mutation_p.V116I	p.V140I	NM_001278305.1|NM_080678.2	NP_001265234.1|NP_542409.1	Q969M7	UBE2F_HUMAN		Epithelial(121;6.7e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|Kidney(56;3.53e-09)|KIRC - Kidney renal clear cell carcinoma(57;9.79e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000136)|Lung(119;0.0126)|LUSC - Lung squamous cell carcinoma(224;0.0301)	8	612	+		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)	140					A8K1Z8|B4DDT9|B4DFI1|B4DMK3|B4DZU2|B8ZZG2|C9J212|H9KVB9	Missense_Mutation	SNP	ENST00000272930.4	37	c.418G>A	CCDS2523.1	.	.	.	.	.	.	.	.	.	.	G	10.11	1.260616	0.23051	.	.	ENSG00000184182	ENST00000272930;ENST00000416292;ENST00000409633;ENST00000414443;ENST00000409953;ENST00000409332;ENST00000434655;ENST00000434137	T;T;T;T;T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5	4.87	4.87	0.63330	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.063698	0.64402	N	0.000007	T	0.50514	0.1620	N	0.05554	-0.025	0.44719	D	0.997713	B;B	0.17852	0.024;0.0	B;B	0.16289	0.015;0.004	T	0.47156	-0.9139	10	0.30854	T	0.27	-20.783	13.8838	0.63696	0.0:0.0:1.0:0.0	.	108;140	Q969M7-3;Q969M7	.;UBE2F_HUMAN	I	140;108;140;108;116;118;140;130	ENSP00000272930:V140I;ENSP00000390813:V108I;ENSP00000387299:V140I;ENSP00000399183:V108I;ENSP00000386680:V116I;ENSP00000387060:V118I;ENSP00000406113:V140I;ENSP00000414619:V130I	ENSP00000272930:V140I	V	+	1	0	UBE2F	238605608	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	7.227000	0.78070	2.419000	0.82065	0.655000	0.94253	GTT		0.338	UBE2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257171.2	NM_080678		14	29	0	0	0	1	0	14	29				
SCN5A	6331	broad.mit.edu	37	3	38595989	38595989	+	Missense_Mutation	SNP	C	C	T	rs199473618	byFrequency	TCGA-V1-A9O9-01A-11D-A41K-08	TCGA-V1-A9O9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcad0c26-dab3-4bf0-9ef6-a5be33131a61	8636a67d-a41b-4d6d-ad70-2f28e9aeda6e	g.chr3:38595989C>T	ENST00000333535.4	-	27	4743	c.4594G>A	c.(4594-4596)Gtc>Atc	p.V1532I	SCN5A_ENST00000450102.2_Missense_Mutation_p.V1478I|SCN5A_ENST00000425664.1_Missense_Mutation_p.V1514I|SCN5A_ENST00000451551.2_Missense_Mutation_p.V1478I|SCN5A_ENST00000413689.1_Missense_Mutation_p.V1532I|SCN5A_ENST00000423572.2_Missense_Mutation_p.V1531I|SCN5A_ENST00000464652.1_5'UTR|SCN5A_ENST00000455624.2_Missense_Mutation_p.V1531I|SCN5A_ENST00000449557.2_Missense_Mutation_p.V1478I|SCN5A_ENST00000443581.1_Missense_Mutation_p.V1531I|SCN5A_ENST00000414099.2_Missense_Mutation_p.V1514I			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1532					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	ATGATGGTGACGTCAAAGGCC	0.483													C|||	3	0.000599042	0.0	0.0	5008	,	,		21884	0.001		0.0	False		,,,				2504	0.002					ENST00000413689.1																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107						c.(4594-4596)Gtc>Atc		sodium channel, voltage-gated, type V, alpha subunit	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	C	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	7,4079		0,7,2036	144.0	145.0	145.0		4591,4594,4540,4591,4432,4594	3.7	0.9	3		145	0,8396		0,0,4198	yes	missense,missense,missense,missense,missense,missense	SCN5A	NM_000335.4,NM_001099404.1,NM_001099405.1,NM_001160160.1,NM_001160161.1,NM_198056.2	29,29,29,29,29,29	0,7,6234	TT,TC,CC		0.0,0.1713,0.0561	benign,benign,benign,benign,benign,benign	1531/2016,1532/2017,1514/1999,1531/1984,1478/1963,1532/2017	38595989	7,12475	2043	4198	6241	SO:0001583	missense	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38595989C>T	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.4594G>A	3.37:g.38595989C>T	ENSP00000328968:p.Val1532Ile					SCN5A_ENST00000455624.2_Missense_Mutation_p.V1531I|SCN5A_ENST00000451551.2_Missense_Mutation_p.V1478I|SCN5A_ENST00000443581.1_Missense_Mutation_p.V1531I|SCN5A_ENST00000423572.2_Missense_Mutation_p.V1531I|SCN5A_ENST00000464652.1_5'UTR|SCN5A_ENST00000425664.1_Missense_Mutation_p.V1514I|SCN5A_ENST00000414099.2_Missense_Mutation_p.V1514I|SCN5A_ENST00000333535.4_Missense_Mutation_p.V1532I|SCN5A_ENST00000450102.2_Missense_Mutation_p.V1478I|SCN5A_ENST00000449557.2_Missense_Mutation_p.V1478I	p.V1532I	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	27	4787	-	Medulloblastoma(35;0.163)		1532					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	c.4594G>A	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	C	9.762	1.170236	0.21621	0.001713	0.0	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.97328	-4.34;-4.34;-4.34;-4.34;-4.34;-4.34;-4.34;-4.34;-4.34;-4.34	3.69	3.69	0.42338	.	0.063063	0.64402	D	0.000006	D	0.89480	0.6727	N	0.00166	-1.94	0.41734	D	0.989574	B;D;P;P;P;B	0.89917	0.391;1.0;0.772;0.739;0.693;0.088	B;D;B;B;B;B	0.81914	0.07;0.995;0.168;0.07;0.184;0.013	D	0.86197	0.1616	10	0.02654	T	1	.	9.4669	0.38817	0.0:0.9023:0.0:0.0977	.	1478;1531;1514;1532;1531;1532	E9PEF3;E9PHB6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;SCN5A_HUMAN;.;.	I	1514;1531;1532;1478;1531;1514;1532;1531;1478;1478	ENSP00000398962:V1514I;ENSP00000398266:V1531I;ENSP00000410257:V1532I;ENSP00000388797:V1478I;ENSP00000397915:V1531I;ENSP00000416634:V1514I;ENSP00000328968:V1532I;ENSP00000399524:V1531I;ENSP00000403355:V1478I;ENSP00000413996:V1478I	ENSP00000328968:V1532I	V	-	1	0	SCN5A	38570993	0.996000	0.38824	0.943000	0.38184	0.910000	0.53928	3.017000	0.49615	1.903000	0.55091	0.462000	0.41574	GTC		0.483	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		7	60	0	0	0	1	0	7	60				
C4BPA	722	broad.mit.edu	37	1	207297289	207297289	+	Missense_Mutation	SNP	A	A	G	rs146506452		TCGA-V1-A9O9-01A-11D-A41K-08	TCGA-V1-A9O9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcad0c26-dab3-4bf0-9ef6-a5be33131a61	8636a67d-a41b-4d6d-ad70-2f28e9aeda6e	g.chr1:207297289A>G	ENST00000367070.3	+	5	645	c.451A>G	c.(451-453)Act>Gct	p.T151A		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	151	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|negative regulation of complement activation, classical pathway (GO:0045959)|positive regulation of protein catabolic process (GO:0045732)|regulation of complement activation (GO:0030449)|regulation of opsonization (GO:1903027)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						TGGCTCAACCACTAGTCGTTG	0.353																																						ENST00000367070.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						c.(451-453)Act>Gct		complement component 4 binding protein, alpha		A	ALA/THR	1,4405	2.1+/-5.4	0,1,2202	67.0	65.0	66.0		451	4.8	0.0	1	dbSNP_134	66	0,8600		0,0,4300	no	missense	C4BPA	NM_000715.3	58	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	probably-damaging	151/598	207297289	1,13005	2203	4300	6503	SO:0001583	missense	722				complement activation, classical pathway|innate immune response	extracellular region	protein binding	g.chr1:207297289A>G	M31452	CCDS1477.1	1q32	2010-09-24	2001-11-28		ENSG00000123838	ENSG00000123838			1325	protein-coding gene	gene with protein product		120830	"""complement component 4-binding protein, alpha"""	C4BP			Standard	XM_005273251		Approved		uc001hfo.3	P04003	OTTHUMG00000036173	ENST00000367070.3:c.451A>G	1.37:g.207297289A>G	ENSP00000356037:p.Thr151Ala						p.T151A	NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN			5	645	+			151			Sushi 2.		Q5VVQ8	Missense_Mutation	SNP	ENST00000367070.3	37	c.451A>G	CCDS1477.1	.	.	.	.	.	.	.	.	.	.	A	18.37	3.609298	0.66558	2.27E-4	0.0	ENSG00000123838	ENST00000367070;ENST00000421786	T;T	0.65916	-0.18;1.39	5.9	4.76	0.60689	Complement control module (2);Sushi/SCR/CCP (3);	0.093407	0.47455	D	0.000233	T	0.73473	0.3591	M	0.74389	2.26	0.09310	N	1	D	0.61080	0.989	D	0.66716	0.946	T	0.63919	-0.6528	10	0.23302	T	0.38	.	9.3047	0.37867	0.8401:0.0:0.0:0.1599	.	151	P04003	C4BPA_HUMAN	A	151	ENSP00000356037:T151A;ENSP00000403386:T151A	ENSP00000356037:T151A	T	+	1	0	C4BPA	205363912	0.036000	0.19791	0.003000	0.11579	0.075000	0.17131	2.865000	0.48412	1.028000	0.39785	0.528000	0.53228	ACT		0.353	C4BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088089.3			3	26	0	0	0	1	0	3	26				
NAA38	84316	broad.mit.edu	37	17	7760441	7760441	+	Missense_Mutation	SNP	T	T	C			TCGA-V1-A9O9-01A-11D-A41K-08	TCGA-V1-A9O9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcad0c26-dab3-4bf0-9ef6-a5be33131a61	8636a67d-a41b-4d6d-ad70-2f28e9aeda6e	g.chr17:7760441T>C	ENST00000335155.5	-	2	156	c.157A>G	c.(157-159)Atg>Gtg	p.M53V	LSMD1_ENST00000570555.1_5'Flank|CYB5D1_ENST00000571846.1_5'Flank|LSMD1_ENST00000576861.1_Missense_Mutation_p.M27V|LSMD1_ENST00000576384.1_Start_Codon_SNP_p.M1V|CYB5D1_ENST00000570446.1_5'Flank|LSMD1_ENST00000575208.1_Start_Codon_SNP_p.M1V|CYB5D1_ENST00000332439.4_5'Flank|LSMD1_ENST00000333775.5_Missense_Mutation_p.M101V|LSMD1_ENST00000575071.1_Start_Codon_SNP_p.M1V|LSMD1_ENST00000575771.1_Start_Codon_SNP_p.M1V			Q9BRA0	LSMD1_HUMAN		53					negative regulation of apoptotic process (GO:0043066)	cytoplasm (GO:0005737)|NatC complex (GO:0031417)|nucleus (GO:0005634)				endometrium(1)|lung(2)|ovary(1)	4		all_cancers(10;0.11)|Prostate(122;0.219)				CGAATGCGCATAGTCTTGTTG	0.622											OREG0024146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(66;626 1401 29924 42527)	ENST00000333775.5																			0				endometrium(1)|lung(2)|ovary(1)	4						c.(301-303)Atg>Gtg		LSM domain containing 1							112.0	111.0	111.0					17																	7760441		2203	4300	6503	SO:0001583	missense	84316					cytoplasm|nucleus		g.chr17:7760441T>C																												ENST00000335155.5:c.157A>G	17.37:g.7760441T>C	ENSP00000335611:p.Met53Val		OREG0024146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	644	LSMD1_ENST00000576861.1_Missense_Mutation_p.M27V|LSMD1_ENST00000335155.5_Missense_Mutation_p.M53V|LSMD1_ENST00000576384.1_Start_Codon_SNP_p.M1V|LSMD1_ENST00000575771.1_Start_Codon_SNP_p.M1V|LSMD1_ENST00000575071.1_Start_Codon_SNP_p.M1V|LSMD1_ENST00000575208.1_Start_Codon_SNP_p.M1V	p.M101V	NM_032356.3	NP_115732.2	Q9BRA0	LSMD1_HUMAN			1	731	-		all_cancers(10;0.11)|Prostate(122;0.219)	53					Q8N4M0	Missense_Mutation	SNP	ENST00000335155.5	37	c.301A>G		.	.	.	.	.	.	.	.	.	.	T	17.97	3.518697	0.64634	.	.	ENSG00000183011	ENST00000333775;ENST00000335155	T;T	0.18960	2.18;2.18	5.39	5.39	0.77823	Like-Sm ribonucleoprotein (LSM) domain, eukaryotic/archaea-type (1);Like-Sm ribonucleoprotein (LSM) domain (1);Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.000000	0.85682	D	0.000000	T	0.15825	0.0381	N	0.16708	0.43	0.58432	D	0.999996	B;B	0.20887	0.04;0.049	B;B	0.26416	0.041;0.069	T	0.05801	-1.0863	10	0.41790	T	0.15	-14.5337	14.3866	0.66949	0.0:0.0:0.0:1.0	.	101;53	Q9BRA0-2;Q9BRA0	.;LSMD1_HUMAN	V	101;53	ENSP00000332103:M101V;ENSP00000335611:M53V	ENSP00000332103:M101V	M	-	1	0	LSMD1	7701166	1.000000	0.71417	0.997000	0.53966	0.959000	0.62525	4.312000	0.59154	2.054000	0.61138	0.368000	0.22195	ATG		0.622	LSMD1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				6	88	0	0	0	1	0	6	88				
HEY2	23493	broad.mit.edu	37	6	126080635	126080635	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9O9-01A-11D-A41K-08	TCGA-V1-A9O9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcad0c26-dab3-4bf0-9ef6-a5be33131a61	8636a67d-a41b-4d6d-ad70-2f28e9aeda6e	g.chr6:126080635C>T	ENST00000368364.3	+	5	898	c.701C>T	c.(700-702)gCg>gTg	p.A234V	HEY2_ENST00000368365.1_Missense_Mutation_p.A188V	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN	hes-related family bHLH transcription factor with YRPW motif 2	234					anterior/posterior axis specification (GO:0009948)|arterial endothelial cell differentiation (GO:0060842)|ascending aorta morphogenesis (GO:0035910)|atrial septum morphogenesis (GO:0060413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate commitment (GO:0045165)|cochlea development (GO:0090102)|coronary vasculature morphogenesis (GO:0060977)|dorsal aorta morphogenesis (GO:0035912)|endocardial cushion to mesenchymal transition involved in heart valve formation (GO:0003199)|heart trabecula formation (GO:0060347)|labyrinthine layer blood vessel development (GO:0060716)|mesenchymal cell development (GO:0014031)|muscular septum morphogenesis (GO:0003150)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cardiac vascular smooth muscle cell differentiation (GO:2000723)|negative regulation of gene expression (GO:0010629)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription by transcription factor localization (GO:0010621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000820)|negative regulation of transcription initiation from RNA polymerase II promoter (GO:0060633)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of heart rate (GO:0010460)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein-DNA complex assembly (GO:0065004)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of auditory receptor cell differentiation (GO:0045607)|regulation of vasculogenesis (GO:2001212)|smooth muscle cell differentiation (GO:0051145)|tricuspid valve formation (GO:0003195)|tricuspid valve morphogenesis (GO:0003186)|umbilical cord morphogenesis (GO:0036304)|vascular smooth muscle cell development (GO:0097084)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	histone deacetylase binding (GO:0042826)|microsatellite binding (GO:0035939)|protein binding transcription factor activity (GO:0000988)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		TTTGCCCATGCGGATTCAGCC	0.647																																						ENST00000368364.3																			0				breast(1)|large_intestine(7)|lung(5)|prostate(1)	14						c.(700-702)gCg>gTg		hes-related family bHLH transcription factor with YRPW motif 2							174.0	159.0	164.0					6																	126080635		2203	4300	6503	SO:0001583	missense	23493				negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding	g.chr6:126080635C>T	AJ249545	CCDS5131.1	6q	2013-10-17	2013-10-17		ENSG00000135547	ENSG00000135547		"""Basic helix-loop-helix proteins"""	4881	protein-coding gene	gene with protein product		604674	"""hairy/enhancer-of-split related with YRPW motif 2"""			10415358	Standard	NM_012259		Approved	bHLHb32, HERP1, HESR2	uc003qad.3	Q9UBP5	OTTHUMG00000015512	ENST00000368364.3:c.701C>T	6.37:g.126080635C>T	ENSP00000357348:p.Ala234Val					HEY2_ENST00000368365.1_Missense_Mutation_p.A188V	p.A234V	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)	5	898	+			234						Missense_Mutation	SNP	ENST00000368364.3	37	c.701C>T	CCDS5131.1	.	.	.	.	.	.	.	.	.	.	C	16.69	3.194167	0.58017	.	.	ENSG00000135547	ENST00000368365;ENST00000368364	T;T	0.58797	0.31;0.31	4.95	4.95	0.65309	.	1.200460	0.05971	N	0.642316	T	0.34337	0.0894	L	0.29908	0.895	0.46376	D	0.999017	P	0.35011	0.48	B	0.26094	0.066	T	0.16276	-1.0408	10	0.30854	T	0.27	-28.093	18.3639	0.90384	0.0:1.0:0.0:0.0	.	234	Q9UBP5	HEY2_HUMAN	V	188;234	ENSP00000357349:A188V;ENSP00000357348:A234V	ENSP00000357348:A234V	A	+	2	0	HEY2	126122328	0.490000	0.26012	0.856000	0.33681	0.961000	0.63080	4.476000	0.60216	2.566000	0.86566	0.561000	0.74099	GCG		0.647	HEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042077.1			4	184	0	0	0	1	0	4	184				
MAN2A2	4122	broad.mit.edu	37	15	91449677	91449677	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9O9-01A-11D-A41K-08	TCGA-V1-A9O9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcad0c26-dab3-4bf0-9ef6-a5be33131a61	8636a67d-a41b-4d6d-ad70-2f28e9aeda6e	g.chr15:91449677C>T	ENST00000559717.1	+	6	1244	c.785C>T	c.(784-786)gCa>gTa	p.A262V	MAN2A2_ENST00000431652.2_5'Flank|MAN2A2_ENST00000360468.3_Missense_Mutation_p.A262V			P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	262					cellular protein metabolic process (GO:0044267)|mannose metabolic process (GO:0006013)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CACTACTTTGCATTGATTGAC	0.557																																						ENST00000360468.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						c.(784-786)gCa>gTa		mannosidase, alpha, class 2A, member 2							125.0	114.0	118.0					15																	91449677		2198	4298	6496	SO:0001583	missense	4122				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	g.chr15:91449677C>T	L28821	CCDS32332.1	15q25	2011-06-30			ENSG00000196547	ENSG00000196547			6825	protein-coding gene	gene with protein product		600988				8524845	Standard	NM_006122		Approved	MANA2X, HsT19662	uc002bqc.3	P49641		ENST00000559717.1:c.785C>T	15.37:g.91449677C>T	ENSP00000452948:p.Ala262Val					MAN2A2_ENST00000559717.1_Missense_Mutation_p.A262V	p.A262V	NM_006122.2	NP_006113.2	P49641	MA2A2_HUMAN	Lung(145;0.229)		5	803	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		262					A6NH12|A8K1E8|Q13754	Missense_Mutation	SNP	ENST00000559717.1	37	c.785C>T	CCDS32332.1	.	.	.	.	.	.	.	.	.	.	C	35	5.500848	0.96371	.	.	ENSG00000196547	ENST00000360468	T	0.26067	1.76	5.28	5.28	0.74379	Glycoside hydrolase/deacetylase, beta/alpha-barrel (1);Glycoside hydrolase, family 38, core (2);	0.000000	0.85682	D	0.000000	T	0.58192	0.2105	M	0.85299	2.745	0.80722	D	1	P;D	0.76494	0.918;0.999	P;D	0.83275	0.835;0.996	T	0.65158	-0.6236	10	0.87932	D	0	-20.35	18.9701	0.92711	0.0:1.0:0.0:0.0	.	262;262	P49641-1;P49641	.;MA2A2_HUMAN	V	262	ENSP00000353655:A262V	ENSP00000353655:A262V	A	+	2	0	MAN2A2	89250681	1.000000	0.71417	0.941000	0.38009	0.923000	0.55619	7.818000	0.86416	2.496000	0.84212	0.456000	0.33151	GCA		0.557	MAN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418246.5	NM_006122		7	35	0	0	0	1	0	7	35				
SLC38A9	153129	broad.mit.edu	37	5	54993715	54993715	+	Silent	SNP	A	A	T			TCGA-V1-A9O9-01A-11D-A41K-08	TCGA-V1-A9O9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcad0c26-dab3-4bf0-9ef6-a5be33131a61	8636a67d-a41b-4d6d-ad70-2f28e9aeda6e	g.chr5:54993715A>T	ENST00000396865.2	-	3	663	c.72T>A	c.(70-72)ccT>ccA	p.P24P	SLC38A9_ENST00000504880.1_5'UTR|SLC38A9_ENST00000416547.2_5'UTR|SLC38A9_ENST00000318672.3_Silent_p.P24P|SLC38A9_ENST00000539768.1_Silent_p.P24P	NM_173514.3	NP_775785.2	Q8NBW4	S38A9_HUMAN	solute carrier family 38, member 9	24					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)				GGATATTCATAGGTCCAGGAT	0.353																																						ENST00000539768.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8						c.(70-72)ccT>ccA		solute carrier family 38, member 9							147.0	140.0	143.0					5																	54993715		2203	4300	6503	SO:0001819	synonymous_variant	153129				amino acid transport|sodium ion transport	integral to membrane		g.chr5:54993715A>T		CCDS3968.1, CCDS58947.1, CCDS58948.1, CCDS75243.1	5q11.2	2013-05-22			ENSG00000177058	ENSG00000177058		"""Solute carriers"""	26907	protein-coding gene	gene with protein product							Standard	NM_173514		Approved	FLJ90709	uc003jqf.3	Q8NBW4	OTTHUMG00000131189	ENST00000396865.2:c.72T>A	5.37:g.54993715A>T						SLC38A9_ENST00000318672.3_Silent_p.P24P|SLC38A9_ENST00000416547.2_5'UTR|SLC38A9_ENST00000504880.1_5'UTR|SLC38A9_ENST00000396865.2_Silent_p.P24P	p.P24P			Q8NBW4	S38A9_HUMAN			1	71	-		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)	24					B3KXV1|B7Z7D0|Q0P5S0|Q6MZJ8	Silent	SNP	ENST00000396865.2	37	c.72T>A	CCDS3968.1																																																																																				0.353	SLC38A9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253912.2	NM_173514		14	62	0	0	0	1	0	14	62				
LARP4B	23185	broad.mit.edu	37	10	871233	871233	+	Missense_Mutation	SNP	C	C	A			TCGA-V1-A9O9-01A-11D-A41K-08	TCGA-V1-A9O9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcad0c26-dab3-4bf0-9ef6-a5be33131a61	8636a67d-a41b-4d6d-ad70-2f28e9aeda6e	g.chr10:871233C>A	ENST00000316157.3	-	12	1296	c.1256G>T	c.(1255-1257)cGg>cTg	p.R419L		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	419					positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						AATCGCATGCCGCAGATGAGA	0.378																																						ENST00000316157.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						c.(1255-1257)cGg>cTg		La ribonucleoprotein domain family, member 4B							89.0	96.0	94.0					10																	871233		2203	4300	6503	SO:0001583	missense	23185						nucleotide binding|RNA binding	g.chr10:871233C>A	D86971	CCDS31131.1	10p15.3	2011-08-24	2009-06-09	2009-06-09	ENSG00000107929	ENSG00000107929		"""La ribonucleoprotein domain containing"""	28987	protein-coding gene	gene with protein product			"""KIAA0217"", ""La ribonucleoprotein domain family, member 5"""	KIAA0217, LARP5		9039502, 20573744	Standard	NM_015155		Approved		uc031ptb.1	Q92615	OTTHUMG00000017534	ENST00000316157.3:c.1256G>T	10.37:g.871233C>A	ENSP00000326128:p.Arg419Leu						p.R419L	NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN			12	1296	-			419					A7MD20|Q5T3R3|Q5T3R4|Q5T3R5|Q68CY4	Missense_Mutation	SNP	ENST00000316157.3	37	c.1256G>T	CCDS31131.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.782737	0.90282	.	.	ENSG00000107929	ENST00000316157	T	0.37584	1.19	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.56171	0.1967	L	0.47190	1.495	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.53121	-0.8483	10	0.51188	T	0.08	-3.5475	19.555	0.95342	0.0:1.0:0.0:0.0	.	419	Q92615	LAR4B_HUMAN	L	419	ENSP00000326128:R419L	ENSP00000326128:R419L	R	-	2	0	LARP4B	861233	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	6.563000	0.73964	2.640000	0.89533	0.655000	0.94253	CGG		0.378	LARP4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046395.2	NM_015155		13	81	1	0	2.27111e-07	1	2.42252e-07	13	81				
PPP1R8	5511	broad.mit.edu	37	1	28167550	28167550	+	Missense_Mutation	SNP	T	T	G			TCGA-V1-A9O9-01A-11D-A41K-08	TCGA-V1-A9O9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcad0c26-dab3-4bf0-9ef6-a5be33131a61	8636a67d-a41b-4d6d-ad70-2f28e9aeda6e	g.chr1:28167550T>G	ENST00000311772.5	+	4	355	c.297T>G	c.(295-297)atT>atG	p.I99M	PPP1R8_ENST00000373931.4_5'UTR|PPP1R8_ENST00000236412.7_Intron	NM_014110.4	NP_054829.2	Q12972	PP1R8_HUMAN	protein phosphatase 1, regulatory subunit 8	99	FHA. {ECO:0000255|PROSITE- ProRule:PRU00086}.|Interaction with CDC5L, SF3B1 and MELK.				cell proliferation (GO:0008283)|mRNA processing (GO:0006397)|negative regulation of catalytic activity (GO:0043086)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|protein phosphatase type 1 regulator activity (GO:0008599)|protein serine/threonine phosphatase inhibitor activity (GO:0004865)|ribonuclease E activity (GO:0008995)|RNA binding (GO:0003723)			breast(2)|cervix(1)|endometrium(2)|lung(2)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|all_lung(284;0.000129)|Lung NSC(340;0.000259)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.76e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00248)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)		TGGGTCACATTCGGTTGGAAC	0.483																																						ENST00000311772.5																			0				breast(2)|cervix(1)|endometrium(2)|lung(2)|upper_aerodigestive_tract(1)	8						c.(295-297)atT>atG		protein phosphatase 1, regulatory subunit 8							140.0	139.0	140.0					1																	28167550		2203	4300	6503	SO:0001583	missense	5511				mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|RNA splicing|transcription, DNA-dependent	cytoplasm|nuclear speck|spliceosomal complex	DNA binding|endonuclease activity|protein binding|protein serine/threonine phosphatase inhibitor activity|ribonuclease E activity|RNA binding	g.chr1:28167550T>G	AF061959	CCDS311.1, CCDS312.1, CCDS313.1	1p35.3	2012-04-17	2011-10-04		ENSG00000117751	ENSG00000117751		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9296	protein-coding gene	gene with protein product	"""RNase E"", ""nuclear subunit of PP-1"", ""nuclear inhibitor of protein phosphatase-1"", ""activator of RNA decay"", ""protein phosphatase 1 regulatory subunit 8"""	602636	"""protein phosphatase 1, regulatory (inhibitor) subunit 8"""			7524097, 8473324	Standard	NM_014110		Approved	ard-1, NIPP-1, PRO2047, ARD1, NIPP1	uc001bov.2	Q12972	OTTHUMG00000003734	ENST00000311772.5:c.297T>G	1.37:g.28167550T>G	ENSP00000311677:p.Ile99Met					PPP1R8_ENST00000236412.7_Intron|PPP1R8_ENST00000373931.4_5'UTR	p.I99M	NM_014110.4	NP_054829.2	Q12972	PP1R8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.76e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00248)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)	4	355	+		Colorectal(325;3.46e-05)|all_lung(284;0.000129)|Lung NSC(340;0.000259)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)	99			FHA.|Interaction with CDC5L, SF3B1 and MELK.		Q5TEJ2|Q5TEJ4|Q5TIF2|Q6PKF6|Q9UBH1|Q9UBZ0	Missense_Mutation	SNP	ENST00000311772.5	37	c.297T>G	CCDS311.1	.	.	.	.	.	.	.	.	.	.	T	15.58	2.875153	0.51695	.	.	ENSG00000117751	ENST00000311772;ENST00000434313	D	0.86432	-2.12	5.58	-0.625	0.11548	Forkhead-associated (FHA) domain (4);SMAD/FHA domain (1);	0.000000	0.85682	D	0.000000	T	0.81375	0.4809	L	0.35644	1.08	0.80722	D	1	B	0.27853	0.191	B	0.37015	0.239	T	0.72481	-0.4280	10	0.42905	T	0.14	-8.473	10.5611	0.45146	0.0:0.4927:0.0:0.5073	.	99	Q12972	PP1R8_HUMAN	M	99	ENSP00000311677:I99M	ENSP00000311677:I99M	I	+	3	3	PPP1R8	28040137	0.932000	0.31603	0.999000	0.59377	0.988000	0.76386	0.039000	0.13884	0.080000	0.16959	0.459000	0.35465	ATT		0.483	PPP1R8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010528.1	NM_014110		10	67	0	0	0	1	0	10	67				
KIF14	9928	broad.mit.edu	37	1	200587123	200587123	+	Silent	SNP	C	C	T			TCGA-V1-A9O9-01A-11D-A41K-08	TCGA-V1-A9O9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcad0c26-dab3-4bf0-9ef6-a5be33131a61	8636a67d-a41b-4d6d-ad70-2f28e9aeda6e	g.chr1:200587123C>T	ENST00000367350.4	-	2	1167	c.729G>A	c.(727-729)aaG>aaA	p.K243K		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	243	Required for PRC1-binding.				ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|PDZ domain binding (GO:0030165)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						TGATATCCAACTTGCTCTGAG	0.378																																						ENST00000367350.4																			0				NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						c.(727-729)aaG>aaA		kinesin family member 14							171.0	176.0	174.0					1																	200587123		2203	4300	6503	SO:0001819	synonymous_variant	9928				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding	g.chr1:200587123C>T	D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193		"""Kinesins"""	19181	protein-coding gene	gene with protein product		611279				7584044	Standard	NM_014875		Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.729G>A	1.37:g.200587123C>T							p.K243K	NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN			2	1167	-			243			Required for PRC1-binding.		Q14CI8|Q4G0A5|Q5T1W3	Silent	SNP	ENST00000367350.4	37	c.729G>A	CCDS30963.1																																																																																				0.378	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086878.1	NM_014875		6	162	0	0	0	1	0	6	162				
SLC4A2	6522	broad.mit.edu	37	7	150767855	150767855	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9O9-01A-11D-A41K-08	TCGA-V1-A9O9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcad0c26-dab3-4bf0-9ef6-a5be33131a61	8636a67d-a41b-4d6d-ad70-2f28e9aeda6e	g.chr7:150767855C>T	ENST00000485713.1	+	12	2646	c.1606C>T	c.(1606-1608)Cgg>Tgg	p.R536W	SLC4A2_ENST00000461735.1_Missense_Mutation_p.R522W|SLC4A2_ENST00000392826.2_Missense_Mutation_p.R527W|SLC4A2_ENST00000310317.5_Missense_Mutation_p.R454W|SLC4A2_ENST00000413384.2_Missense_Mutation_p.R536W	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	536					anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGCCTTTGTGCGGCTCCGGGA	0.647																																						ENST00000485713.1																			0				NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(1606-1608)Cgg>Tgg		solute carrier family 4 (anion exchanger), member 2							89.0	84.0	86.0					7																	150767855		2203	4300	6503	SO:0001583	missense	6522				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity	g.chr7:150767855C>T		CCDS5917.1, CCDS56520.1, CCDS56521.1	7q36.1	2013-07-19	2013-07-19		ENSG00000164889	ENSG00000164889		"""Solute carriers"""	11028	protein-coding gene	gene with protein product	"""anion exchanger 2 type a"", ""anion exchanger 2 type b1"", ""anion exchanger 2 type b2"""	109280	"""erythrocyte membrane protein band 3-like 1"", ""solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)"""	EPB3L1, AE2		8434259	Standard	NM_003040		Approved	HKB3, BND3L, NBND3	uc003wit.4	P04920	OTTHUMG00000158443	ENST00000485713.1:c.1606C>T	7.37:g.150767855C>T	ENSP00000419412:p.Arg536Trp					SLC4A2_ENST00000461735.1_Missense_Mutation_p.R522W|SLC4A2_ENST00000392826.2_Missense_Mutation_p.R527W|SLC4A2_ENST00000413384.2_Missense_Mutation_p.R536W|SLC4A2_ENST00000310317.5_Missense_Mutation_p.R454W	p.R536W	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	12	2646	+			536					B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	Missense_Mutation	SNP	ENST00000485713.1	37	c.1606C>T	CCDS5917.1	.	.	.	.	.	.	.	.	.	.	C	19.55	3.848062	0.71603	.	.	ENSG00000164889	ENST00000485713;ENST00000413384;ENST00000310317;ENST00000392826;ENST00000461735	D;D;D;D;D	0.85088	-1.94;-1.94;-1.94;-1.94;-1.94	5.27	4.3	0.51218	Bicarbonate transporter, cytoplasmic (2);Phosphotransferase/anion transporter (1);	0.000000	0.85682	D	0.000000	D	0.94647	0.8274	H	0.96208	3.785	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96106	0.9073	10	0.87932	D	0	.	15.4061	0.74881	0.1484:0.8515:0.0:0.0	.	527;522;536	F8W682;P04920-2;P04920	.;.;B3A2_HUMAN	W	536;536;454;527;522	ENSP00000419412:R536W;ENSP00000405600:R536W;ENSP00000311402:R454W;ENSP00000376571:R527W;ENSP00000419164:R522W	ENSP00000311402:R454W	R	+	1	2	SLC4A2	150398788	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	2.341000	0.43983	2.474000	0.83562	0.650000	0.86243	CGG		0.647	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351039.1	NM_003040		3	34	0	0	0	1	0	3	34				
ZNF423	23090	broad.mit.edu	37	16	49670758	49670758	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9O9-01A-11D-A41K-08	TCGA-V1-A9O9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcad0c26-dab3-4bf0-9ef6-a5be33131a61	8636a67d-a41b-4d6d-ad70-2f28e9aeda6e	g.chr16:49670758C>T	ENST00000561648.1	-	4	2358	c.2305G>A	c.(2305-2307)Gtc>Atc	p.V769I	ZNF423_ENST00000563137.2_Missense_Mutation_p.V709I|ZNF423_ENST00000562871.1_Missense_Mutation_p.V709I|ZNF423_ENST00000262383.2_Missense_Mutation_p.V769I|ZNF423_ENST00000562520.1_Missense_Mutation_p.V709I|ZNF423_ENST00000567169.1_Missense_Mutation_p.V652I|ZNF423_ENST00000535559.1_Missense_Mutation_p.V652I	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	769					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				CTGTGTTTGACGTGCACCTGC	0.607																																						ENST00000561648.1																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89						c.(2305-2307)Gtc>Atc		zinc finger protein 423							133.0	116.0	122.0					16																	49670758		2198	4300	6498	SO:0001583	missense	23090				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr16:49670758C>T	AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"""Zinc fingers, C2H2-type"""	16762	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.2305G>A	16.37:g.49670758C>T	ENSP00000455426:p.Val769Ile					ZNF423_ENST00000262383.2_Missense_Mutation_p.V769I|ZNF423_ENST00000563137.2_Missense_Mutation_p.V709I|ZNF423_ENST00000535559.1_Missense_Mutation_p.V652I|ZNF423_ENST00000567169.1_Missense_Mutation_p.V652I|ZNF423_ENST00000562871.1_Missense_Mutation_p.V709I|ZNF423_ENST00000562520.1_Missense_Mutation_p.V709I	p.V769I	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN			4	2358	-		all_cancers(37;0.0155)	769					O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	ENST00000561648.1	37	c.2305G>A	CCDS32445.1	.	.	.	.	.	.	.	.	.	.	C	16.22	3.062533	0.55432	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.08984	3.03;3.05	4.81	4.81	0.61882	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.061993	0.64402	D	0.000004	T	0.19604	0.0471	L	0.33668	1.02	0.52501	D	0.999954	D	0.76494	0.999	D	0.79784	0.993	T	0.02942	-1.1091	9	.	.	.	-38.336	17.8857	0.88854	0.0:1.0:0.0:0.0	.	769	Q2M1K9	ZN423_HUMAN	I	769;652	ENSP00000262383:V769I;ENSP00000442321:V652I	.	V	-	1	0	ZNF423	48228259	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.999000	0.70665	2.234000	0.73211	0.561000	0.74099	GTC		0.607	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069		3	31	0	0	0	1	0	3	31				
FBN1	2200	broad.mit.edu	37	15	48773910	48773910	+	Silent	SNP	T	T	C			TCGA-V1-A9O9-01A-11D-A41K-08	TCGA-V1-A9O9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcad0c26-dab3-4bf0-9ef6-a5be33131a61	8636a67d-a41b-4d6d-ad70-2f28e9aeda6e	g.chr15:48773910T>C	ENST00000316623.5	-	32	4361	c.3906A>G	c.(3904-3906)tcA>tcG	p.S1302S		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1302	EGF-like 21; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GGCAGATAAATGAGCCTTTCG	0.363																																						ENST00000316623.5																			0				NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139						c.(3904-3906)tcA>tcG		fibrillin 1							138.0	139.0	139.0					15																	48773910		2198	4296	6494	SO:0001819	synonymous_variant	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48773910T>C	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.3906A>G	15.37:g.48773910T>C							p.S1302S	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	32	4361	-		all_lung(180;0.00279)	1302			EGF-like 21; calcium-binding.		B2RUU0|D2JYH6|Q15972|Q75N87	Silent	SNP	ENST00000316623.5	37	c.3906A>G	CCDS32232.1																																																																																				0.363	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			26	93	0	0	0	1	0	26	93				
CA6	765	broad.mit.edu	37	1	9019055	9019055	+	Silent	SNP	C	C	T			TCGA-V1-A9O9-01A-11D-A41K-08	TCGA-V1-A9O9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcad0c26-dab3-4bf0-9ef6-a5be33131a61	8636a67d-a41b-4d6d-ad70-2f28e9aeda6e	g.chr1:9019055C>T	ENST00000377443.2	+	4	499	c.495C>T	c.(493-495)ttC>ttT	p.F165F	CA6_ENST00000377436.3_Silent_p.F165F|CA6_ENST00000476083.1_3'UTR|CA6_ENST00000377442.2_Silent_p.F105F	NM_001215.3	NP_001206.2	P23280	CAH6_HUMAN	carbonic anhydrase VI	165					bicarbonate transport (GO:0015701)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)	p.F165F(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)	Mafenide(DB06795)|Zonisamide(DB00909)	TGGCAGCCTTCGTTGAGGTAA	0.408																																						ENST00000377443.2																			1	Substitution - coding silent(1)	p.F165F(1)	ovary(1)	endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16						c.(493-495)ttC>ttT		carbonic anhydrase VI							136.0	139.0	138.0					1																	9019055		2203	4300	6503	SO:0001819	synonymous_variant	765				one-carbon metabolic process	extracellular region	carbonate dehydratase activity|zinc ion binding	g.chr1:9019055C>T	M57892	CCDS30578.1, CCDS57970.1, CCDS57971.1	1p36.2	2008-02-05			ENSG00000131686	ENSG00000131686	4.2.1.1	"""Carbonic anhydrases"""	1380	protein-coding gene	gene with protein product		114780				9691177	Standard	NM_001215		Approved		uc031plc.1	P23280	OTTHUMG00000001763	ENST00000377443.2:c.495C>T	1.37:g.9019055C>T						CA6_ENST00000377442.2_Silent_p.F105F|CA6_ENST00000476083.1_3'UTR|CA6_ENST00000377436.3_Silent_p.F165F	p.F165F	NM_001215.3	NP_001206.2	P23280	CAH6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)	4	499	+	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	165					E7EMQ1|Q5FBW3|Q5FC00|Q96QX8|Q9UF03	Silent	SNP	ENST00000377443.2	37	c.495C>T	CCDS30578.1																																																																																				0.408	CA6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000004911.1			11	121	0	0	0	1	0	11	121				
CEP120	153241	broad.mit.edu	37	5	122720737	122720737	+	Missense_Mutation	SNP	C	C	A	rs75289011	byFrequency	TCGA-V1-A9O9-01A-11D-A41K-08	TCGA-V1-A9O9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcad0c26-dab3-4bf0-9ef6-a5be33131a61	8636a67d-a41b-4d6d-ad70-2f28e9aeda6e	g.chr5:122720737C>A	ENST00000306467.5	-	11	1975	c.1671G>T	c.(1669-1671)ttG>ttT	p.L557F	CEP120_ENST00000306481.6_Missense_Mutation_p.L531F|CEP120_ENST00000328236.5_Missense_Mutation_p.L557F			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	557					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)|regulation of protein localization (GO:0032880)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						TTTCTGAAGACAAGATGTTAG	0.388																																						ENST00000306467.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						c.(1669-1671)ttG>ttT		centrosomal protein 120kDa							123.0	119.0	120.0					5																	122720737		2203	4300	6503	SO:0001583	missense	153241					centrosome		g.chr5:122720737C>A	AK095646	CCDS4134.2, CCDS54890.1	5q23.2	2014-02-20	2008-08-14	2008-08-14	ENSG00000168944	ENSG00000168944			26690	protein-coding gene	gene with protein product		613446	"""coiled-coil domain containing 100"""	CCDC100		17920017	Standard	NM_153223		Approved	FLJ36090	uc003ktk.3	Q8N960	OTTHUMG00000128922	ENST00000306467.5:c.1671G>T	5.37:g.122720737C>A	ENSP00000303058:p.Leu557Phe					CEP120_ENST00000328236.5_Missense_Mutation_p.L557F|CEP120_ENST00000306481.6_Missense_Mutation_p.L531F	p.L557F			Q8N960	CE120_HUMAN			11	1975	-			557					Q6AI52|Q6AW89|Q8IWB5|Q8N9Y0|Q8NDE8	Missense_Mutation	SNP	ENST00000306467.5	37	c.1671G>T	CCDS4134.2	.	.	.	.	.	.	.	.	.	.	C	14.69	2.609336	0.46527	.	.	ENSG00000168944	ENST00000306467;ENST00000328236;ENST00000306481;ENST00000508442	T;T;T;T	0.61392	0.11;0.11;0.11;0.11	5.62	0.53	0.17102	.	0.000000	0.64402	D	0.000002	T	0.50257	0.1605	M	0.72894	2.215	0.80722	D	1	B	0.28552	0.215	B	0.28709	0.093	T	0.47114	-0.9142	10	0.62326	D	0.03	-3.1615	5.8106	0.18463	0.0:0.5206:0.1267:0.3526	.	557	Q8N960	CE120_HUMAN	F	557;557;531;531	ENSP00000303058:L557F;ENSP00000327504:L557F;ENSP00000307419:L531F;ENSP00000421620:L531F	ENSP00000303058:L557F	L	-	3	2	CEP120	122748636	0.978000	0.34361	1.000000	0.80357	0.956000	0.61745	0.120000	0.15647	0.274000	0.22072	0.650000	0.86243	TTG		0.388	CEP120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250899.2	NM_153223		6	49	1	0	0.00116845	1	0.00116845	6	49				
UBR7	55148	broad.mit.edu	37	14	93684909	93684909	+	Missense_Mutation	SNP	G	G	A	rs372446489		TCGA-V1-A9O9-01A-11D-A41K-08	TCGA-V1-A9O9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcad0c26-dab3-4bf0-9ef6-a5be33131a61	8636a67d-a41b-4d6d-ad70-2f28e9aeda6e	g.chr14:93684909G>A	ENST00000013070.6	+	7	874	c.638G>A	c.(637-639)cGg>cAg	p.R213Q	UBR7_ENST00000416753.1_Missense_Mutation_p.R137Q|RP11-371E8.4_ENST00000557048.1_3'UTR	NM_175748.3	NP_786924.2	Q8N806	UBR7_HUMAN	ubiquitin protein ligase E3 component n-recognin 7 (putative)	213							ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|large_intestine(2)|lung(12)|urinary_tract(1)	19						GGATTGGTGCGGAACATTGAT	0.393																																						ENST00000013070.6																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(12)|urinary_tract(1)	19						c.(637-639)cGg>cAg		ubiquitin protein ligase E3 component n-recognin 7 (putative)		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	99.0	87.0	91.0		638	1.1	1.0	14		91	0,8600		0,0,4300	no	missense	UBR7	NM_175748.3	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	213/426	93684909	1,13005	2203	4300	6503	SO:0001583	missense	55148						ubiquitin-protein ligase activity|zinc ion binding	g.chr14:93684909G>A	AK001345	CCDS9909.1	14q32.12	2008-06-23	2008-06-23	2008-06-23		ENSG00000012963		"""Ubiquitin protein ligase E3 component n-recognins"""	20344	protein-coding gene	gene with protein product		613816	"""chromosome 14 open reading frame 130"""	C14orf130		18162545	Standard	NM_175748		Approved		uc001ybm.4	Q8N806		ENST00000013070.6:c.638G>A	14.37:g.93684909G>A	ENSP00000013070:p.Arg213Gln					UBR7_ENST00000416753.1_Missense_Mutation_p.R137Q|RP11-371E8.4_ENST00000557048.1_3'UTR	p.R213Q	NM_175748.3	NP_786924.2	Q8N806	UBR7_HUMAN			7	874	+			213					Q86U21|Q86UA9|Q96BY0|Q9NVV6	Missense_Mutation	SNP	ENST00000013070.6	37	c.638G>A	CCDS9909.1	.	.	.	.	.	.	.	.	.	.	G	8.764	0.924363	0.18056	2.27E-4	0.0	ENSG00000012963	ENST00000013070;ENST00000535646;ENST00000416753;ENST00000556871	T;T	0.76186	-0.99;-1.0	6.07	1.12	0.20585	.	0.761213	0.12695	N	0.446879	T	0.41026	0.1141	N	0.08118	0	0.20638	N	0.999875	B;B	0.33940	0.433;0.001	B;B	0.10450	0.005;0.0	T	0.22626	-1.0211	10	0.13470	T	0.59	-0.3848	2.4677	0.04557	0.1142:0.1384:0.1426:0.6048	.	137;213	E9PCJ7;Q8N806	.;UBR7_HUMAN	Q	213;137;137;116	ENSP00000013070:R213Q;ENSP00000391706:R137Q	ENSP00000013070:R213Q	R	+	2	0	UBR7	92754662	0.967000	0.33354	0.977000	0.42913	0.325000	0.28411	0.999000	0.29757	-0.034000	0.13713	-0.145000	0.13849	CGG		0.393	UBR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412693.1	NM_175748		3	51	0	0	0	1	0	3	51				
EMC2	9694	broad.mit.edu	37	8	109489050	109489050	+	Missense_Mutation	SNP	T	T	G			TCGA-V1-A9O9-01A-11D-A41K-08	TCGA-V1-A9O9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcad0c26-dab3-4bf0-9ef6-a5be33131a61	8636a67d-a41b-4d6d-ad70-2f28e9aeda6e	g.chr8:109489050T>G	ENST00000220853.3	+	9	666	c.631T>G	c.(631-633)Tca>Gca	p.S211A	EMC2_ENST00000520294.1_3'UTR	NM_014673.3	NP_055488.1	Q15006	EMC2_HUMAN	ER membrane protein complex subunit 2	211						cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|ER membrane protein complex (GO:0072546)|mitochondrion (GO:0005739)|nucleus (GO:0005634)											CCTCGAACTTTCAAGAAAGTA	0.333																																						ENST00000220853.3																			0											c.(631-633)Tca>Gca		ER membrane protein complex subunit 2							128.0	128.0	128.0					8																	109489050		2203	4299	6502	SO:0001583	missense	9694							g.chr8:109489050T>G	BC021667	CCDS6309.1	8q23.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000104412	ENSG00000104412			28963	protein-coding gene	gene with protein product		607722	"""tetratricopeptide repeat domain 35"""	KIAA0103, TTC35		7788527, 22119785	Standard	NM_014673		Approved		uc003ymw.1	Q15006	OTTHUMG00000164873	ENST00000220853.3:c.631T>G	8.37:g.109489050T>G	ENSP00000220853:p.Ser211Ala					EMC2_ENST00000520294.1_3'UTR	p.S211A	NM_014673.3	NP_055488.1					9	666	+								Q8WUE1	Missense_Mutation	SNP	ENST00000220853.3	37	c.631T>G	CCDS6309.1	.	.	.	.	.	.	.	.	.	.	T	0.009	-1.798540	0.00617	.	.	ENSG00000104412	ENST00000220853	T	0.35421	1.31	6.06	4.9	0.64082	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.118551	0.64402	D	0.000017	T	0.12433	0.0302	N	0.01267	-0.92	0.45995	D	0.998804	B	0.02656	0.0	B	0.04013	0.001	T	0.20140	-1.0284	10	0.02654	T	1	-8.4472	13.6216	0.62140	0.0:0.0:0.1293:0.8707	.	211	Q15006	TTC35_HUMAN	A	211	ENSP00000220853:S211A	ENSP00000220853:S211A	S	+	1	0	TTC35	109558226	1.000000	0.71417	1.000000	0.80357	0.032000	0.12392	3.739000	0.55075	1.096000	0.41439	-0.321000	0.08615	TCA		0.333	EMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380717.1	NM_014673		10	26	0	0	0	1	0	10	26				
EAPP	55837	broad.mit.edu	37	14	34993940	34993940	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9O9-01A-11D-A41K-08	TCGA-V1-A9O9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcad0c26-dab3-4bf0-9ef6-a5be33131a61	8636a67d-a41b-4d6d-ad70-2f28e9aeda6e	g.chr14:34993940G>A	ENST00000250454.3	-	5	625	c.544C>T	c.(544-546)Cct>Tct	p.P182S		NM_018453.3	NP_060923.2	Q56P03	EAPP_HUMAN	E2F-associated phosphoprotein	182					negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	12	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18)	GBM - Glioblastoma multiforme(112;0.0196)		ATGCAGGCAGGACAATTCAAG	0.423																																						ENST00000250454.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	12						c.(544-546)Cct>Tct		E2F-associated phosphoprotein							143.0	137.0	139.0					14																	34993940		2052	4209	6261	SO:0001583	missense	55837				negative regulation of transcription elongation from RNA polymerase II promoter|positive regulation of cell proliferation|positive regulation of transcription elongation from RNA polymerase II promoter	Golgi apparatus|nucleus|plasma membrane		g.chr14:34993940G>A	AF217512	CCDS41941.1	14q13	2007-03-26	2007-03-26	2007-03-26		ENSG00000129518			19312	protein-coding gene	gene with protein product		609486	"""chromosome 14 open reading frame 11"""	C14orf11		15716352	Standard	NM_018453		Approved	BM036, FLJ20578	uc001wsd.1	Q56P03		ENST00000250454.3:c.544C>T	14.37:g.34993940G>A	ENSP00000250454:p.Pro182Ser						p.P182S	NM_018453.3	NP_060923.2	Q56P03	EAPP_HUMAN	LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18)	GBM - Glioblastoma multiforme(112;0.0196)	5	625	-	Breast(36;0.0473)|Hepatocellular(127;0.158)		182					Q9BVF4|Q9NWV5|Q9NZ86	Missense_Mutation	SNP	ENST00000250454.3	37	c.544C>T	CCDS41941.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.764034	0.89932	.	.	ENSG00000129518	ENST00000250454;ENST00000554792	T;T	0.49432	0.78;0.78	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.75228	0.3821	M	0.89601	3.045	0.80722	D	1	D	0.69078	0.997	D	0.70016	0.967	T	0.78114	-0.2330	10	0.49607	T	0.09	-14.1141	19.7607	0.96316	0.0:0.0:1.0:0.0	.	182	Q56P03	EAPP_HUMAN	S	182;161	ENSP00000250454:P182S;ENSP00000450908:P161S	ENSP00000250454:P182S	P	-	1	0	EAPP	34063691	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.505000	0.90515	2.756000	0.94617	0.561000	0.74099	CCT		0.423	EAPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409847.1	NM_018453		3	59	0	0	0	1	0	3	59				
RPP30	10556	broad.mit.edu	37	10	92655210	92655210	+	Splice_Site	SNP	G	G	C			TCGA-V1-A9O9-01A-11D-A41K-08	TCGA-V1-A9O9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcad0c26-dab3-4bf0-9ef6-a5be33131a61	8636a67d-a41b-4d6d-ad70-2f28e9aeda6e	g.chr10:92655210G>C	ENST00000371703.3	+	8	820		c.e8-1		RPP30_ENST00000413330.1_Splice_Site|RPP30_ENST00000489806.1_Splice_Site	NM_006413.4	NP_006404.1	P78346	RPP30_HUMAN	ribonuclease P/MRP 30kDa subunit						RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ribonuclease P activity (GO:0004526)			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	8						CTATTTTGTAGAATGTAATTA	0.274																																						ENST00000413330.1																			0				central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	8						c.e8-1		ribonuclease P/MRP 30kDa subunit							72.0	81.0	78.0					10																	92655210		2189	4265	6454	SO:0001630	splice_region_variant	10556				tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity	g.chr10:92655210G>C	BC006991	CCDS7411.1, CCDS44458.1	10q23.32-q23.33	2012-05-21			ENSG00000148688	ENSG00000148688			17688	protein-coding gene	gene with protein product		606115				9037013, 9308968	Standard	NM_006413		Approved	TSG15	uc001khd.2	P78346	OTTHUMG00000018733	ENST00000371703.3:c.550-1G>C	10.37:g.92655210G>C						RPP30_ENST00000489806.1_Splice_Site|RPP30_ENST00000371703.3_Splice_Site		NM_001104546.1	NP_001098016.1	P78346	RPP30_HUMAN			8	584	+								B2R799|E9PB02	Splice_Site	SNP	ENST00000371703.3	37		CCDS7411.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.154216	0.57259	.	.	ENSG00000148688	ENST00000371703;ENST00000413330;ENST00000277882	.	.	.	5.69	4.78	0.61160	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5852	0.76475	0.0:0.1386:0.8613:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RPP30	92645190	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.797000	0.75150	1.377000	0.46286	0.557000	0.71058	.		0.274	RPP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049347.1	NM_006413	Intron	8	125	0	0	0	1	0	8	125				
DPYSL4	10570	broad.mit.edu	37	10	134017271	134017271	+	Silent	SNP	G	G	A			TCGA-V1-A9O9-01A-11D-A41K-08	TCGA-V1-A9O9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcad0c26-dab3-4bf0-9ef6-a5be33131a61	8636a67d-a41b-4d6d-ad70-2f28e9aeda6e	g.chr10:134017271G>A	ENST00000338492.4	+	13	1631	c.1467G>A	c.(1465-1467)gcG>gcA	p.A489A	DPYSL4_ENST00000368629.1_Silent_p.A329A|DPYSL4_ENST00000368627.1_Silent_p.A329A	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	489					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)	cytosol (GO:0005829)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		GGCAGCTGGCGGAGATCCACG	0.716																																						ENST00000338492.4																			0				NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(1465-1467)gcG>gcA		dihydropyrimidinase-like 4							30.0	33.0	32.0					10																	134017271		2202	4298	6500	SO:0001819	synonymous_variant	10570				axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr10:134017271G>A	AB006713	CCDS7665.1	10q25.2-q26	2008-05-14			ENSG00000151640	ENSG00000151640			3016	protein-coding gene	gene with protein product		608407				8973361, 9652388	Standard	NM_006426		Approved	ULIP4, DRP-4	uc009ybb.3	O14531	OTTHUMG00000019283	ENST00000338492.4:c.1467G>A	10.37:g.134017271G>A						DPYSL4_ENST00000368629.1_Silent_p.A329A|DPYSL4_ENST00000368627.1_Silent_p.A329A	p.A489A	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)	13	1631	+		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)	489					B2RMQ1|D3DRG5|O00240|Q5T0Q7	Silent	SNP	ENST00000338492.4	37	c.1467G>A	CCDS7665.1																																																																																				0.716	DPYSL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051050.2			3	34	0	0	0	1	0	3	34				
PLEKHA8	84725	broad.mit.edu	37	7	30118250	30118250	+	Silent	SNP	G	G	A			TCGA-V1-A9O9-01A-11D-A41K-08	TCGA-V1-A9O9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcad0c26-dab3-4bf0-9ef6-a5be33131a61	8636a67d-a41b-4d6d-ad70-2f28e9aeda6e	g.chr7:30118250G>A	ENST00000449726.1	+	14	1757	c.1407G>A	c.(1405-1407)gcG>gcA	p.A469A	PLEKHA8_ENST00000396257.2_Intron|PLEKHA8_ENST00000396259.1_Intron|PLEKHA8_ENST00000258679.7_Intron	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8	469	Glycolipid transfer protein homology domain.				ER to Golgi ceramide transport (GO:0035621)|lipid transport (GO:0006869)|protein transport (GO:0015031)	membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ceramide binding (GO:0097001)|glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)|phosphatidylinositol-4-phosphate binding (GO:0070273)			breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						TTGTGGCCGCGTTAACCGTAA	0.478																																						ENST00000449726.1																			0				breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						c.(1405-1407)gcG>gcA		pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8							96.0	90.0	92.0					7																	30118250		876	1991	2867	SO:0001819	synonymous_variant	84725				protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity	g.chr7:30118250G>A	BC053990	CCDS5424.1, CCDS56473.1, CCDS75574.1	7p21-p11.2	2013-01-10			ENSG00000106086	ENSG00000106086		"""Pleckstrin homology (PH) domain containing"""	30037	protein-coding gene	gene with protein product		608639				11001876	Standard	NM_001197027		Approved	FAPP2, MGC3358	uc003taq.3	Q96JA3	OTTHUMG00000097751	ENST00000449726.1:c.1407G>A	7.37:g.30118250G>A						PLEKHA8_ENST00000396257.2_Intron|PLEKHA8_ENST00000258679.7_Intron|PLEKHA8_ENST00000396259.1_Intron	p.A469A	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN			14	1757	+			469					B4DH00|Q7Z5V8|Q9BU78|Q9H274|Q9H8Z7	Silent	SNP	ENST00000449726.1	37	c.1407G>A	CCDS56473.1																																																																																				0.478	PLEKHA8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032639		4	37	0	0	0	1	0	4	37				
PIK3CG	5294	broad.mit.edu	37	7	106515220	106515220	+	Missense_Mutation	SNP	A	A	G			TCGA-V1-A9O9-01A-11D-A41K-08	TCGA-V1-A9O9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcad0c26-dab3-4bf0-9ef6-a5be33131a61	8636a67d-a41b-4d6d-ad70-2f28e9aeda6e	g.chr7:106515220A>G	ENST00000359195.3	+	5	2673	c.2363A>G	c.(2362-2364)gAt>gGt	p.D788G	PIK3CG_ENST00000440650.2_Missense_Mutation_p.D788G|PIK3CG_ENST00000496166.1_Missense_Mutation_p.D788G	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	788					adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						GTTCCATATGATCCTGGACTG	0.433																																						ENST00000359195.3																			0				breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						c.(2362-2364)gAt>gGt		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma							72.0	73.0	73.0					7																	106515220		2203	4300	6503	SO:0001583	missense	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106515220A>G		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.2363A>G	7.37:g.106515220A>G	ENSP00000352121:p.Asp788Gly					PIK3CG_ENST00000440650.2_Missense_Mutation_p.D788G|PIK3CG_ENST00000496166.1_Missense_Mutation_p.D788G	p.D788G	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN			5	2673	+			788					A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	37	c.2363A>G	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.499595	0.85176	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000473541;ENST00000359195	T;T;T;T	0.80994	-1.44;-1.44;-1.44;-1.44	5.11	5.11	0.69529	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	D	0.89431	0.6713	M	0.85197	2.74	0.80722	D	1	D	0.67145	0.996	D	0.63703	0.917	D	0.90610	0.4551	10	0.52906	T	0.07	-26.0268	14.909	0.70740	1.0:0.0:0.0:0.0	.	788	P48736	PK3CG_HUMAN	G	788;788;61;788	ENSP00000392258:D788G;ENSP00000419260:D788G;ENSP00000417623:D61G;ENSP00000352121:D788G	ENSP00000352121:D788G	D	+	2	0	PIK3CG	106302456	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.558000	0.90704	1.906000	0.55180	0.528000	0.53228	GAT		0.433	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			11	72	0	0	0	1	0	11	72				
CELSR3	1951	broad.mit.edu	37	3	48685794	48685794	+	Missense_Mutation	SNP	C	C	A			TCGA-V1-A9O9-01A-11D-A41K-08	TCGA-V1-A9O9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcad0c26-dab3-4bf0-9ef6-a5be33131a61	8636a67d-a41b-4d6d-ad70-2f28e9aeda6e	g.chr3:48685794C>A	ENST00000164024.4	-	19	7158	c.6878G>T	c.(6877-6879)gGa>gTa	p.G2293V	CELSR3_ENST00000544264.1_Missense_Mutation_p.G2298V	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2293					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CCTCACCAGTCCCGCGCTGCC	0.642																																						ENST00000544264.1																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83						c.(6892-6894)gGa>gTa		cadherin, EGF LAG seven-pass G-type receptor 3							39.0	38.0	38.0					3																	48685794		2198	4296	6494	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48685794C>A	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.6878G>T	3.37:g.48685794C>A	ENSP00000164024:p.Gly2293Val					CELSR3_ENST00000164024.4_Missense_Mutation_p.G2293V	p.G2298V			Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	20	7173	-			2293					O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.6893G>T	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	C	7.509	0.654190	0.14580	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.09538	2.97;2.97	5.04	5.04	0.67666	Domain of unknown function DUF3497 (1);	.	.	.	.	T	0.17280	0.0415	L	0.57536	1.79	0.58432	D	0.999993	B;P	0.47841	0.254;0.901	B;P	0.46172	0.139;0.506	T	0.06661	-1.0814	9	0.16896	T	0.51	.	18.3882	0.90473	0.0:1.0:0.0:0.0	.	2293;2363	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	V	2293;2298	ENSP00000164024:G2293V;ENSP00000445694:G2298V	ENSP00000164024:G2293V	G	-	2	0	CELSR3	48660798	1.000000	0.71417	0.857000	0.33713	0.462000	0.32619	3.548000	0.53670	2.352000	0.79861	0.462000	0.41574	GGA		0.642	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		11	16	1	0	3.86212e-05	1	3.94429e-05	11	16				
GOLGA8DP	100132979	broad.mit.edu	37	15	22709637	22709637	+	RNA	SNP	T	T	G	rs375512037		TCGA-V1-A9O9-01A-11D-A41K-08	TCGA-V1-A9O9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcad0c26-dab3-4bf0-9ef6-a5be33131a61	8636a67d-a41b-4d6d-ad70-2f28e9aeda6e	g.chr15:22709637T>G	ENST00000314246.8	-	0	1147				RN7SL545P_ENST00000495815.2_RNA			Q0D2H9	GOG8D_HUMAN	golgin A8 family, member D, pseudogene							Golgi apparatus (GO:0005794)											CCCATCTGGTTTTTGAGTTTG	0.547																																						ENST00000314246.8																			0																																																			0							g.chr15:22709637T>G			15q11.2	2014-04-10	2011-04-15	2010-02-12	ENSG00000185182	ENSG00000185182			32376	pseudogene	pseudogene			"""golgi autoantigen, golgin subfamily a, 8D"""	GOLGA8D		12477932	Standard	NR_027407		Approved		uc010axw.2	Q0D2H9	OTTHUMG00000171882		15.37:g.22709637T>G														0	1147	-									RNA	SNP	ENST00000314246.8	37			.	.	.	.	.	.	.	.	.	.	t	4.705	0.131021	0.08981	.	.	ENSG00000185182	ENST00000341390;ENST00000314246;ENST00000317692	.	.	.	0.921	0.921	0.19403	.	.	.	.	.	T	0.23330	0.0564	.	.	.	.	.	.	B	0.10296	0.003	B	0.08055	0.003	T	0.20773	-1.0265	6	0.25751	T	0.34	.	4.1761	0.10353	0.0:0.0:0.0:1.0	.	84	F8WBT8	.	H	84;84;302	.	ENSP00000327024:N84H	N	-	1	0	AC116165.1	20261001	0.018000	0.18449	0.020000	0.16555	0.004000	0.04260	2.215000	0.42862	0.684000	0.31448	0.228000	0.17796	AAC		0.547	GOLGA8DP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415613.1	NR_027407		5	228	0	0	0	1	0	5	228				
CHD2	1106	broad.mit.edu	37	15	93545418	93545418	+	Silent	SNP	G	G	A			TCGA-V1-A9O9-01A-11D-A41K-08	TCGA-V1-A9O9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcad0c26-dab3-4bf0-9ef6-a5be33131a61	8636a67d-a41b-4d6d-ad70-2f28e9aeda6e	g.chr15:93545418G>A	ENST00000394196.4	+	33	5217	c.4149G>A	c.(4147-4149)ttG>ttA	p.L1383L	CHD2_ENST00000557381.1_Silent_p.L1383L	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1383					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			ATGATGGCTTGGAAAAAAGTC	0.368																																						ENST00000394196.4																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47						c.(4147-4149)ttG>ttA		chromodomain helicase DNA binding protein 2							98.0	111.0	107.0					15																	93545418		2197	4298	6495	SO:0001819	synonymous_variant	1106				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr15:93545418G>A	AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.4149G>A	15.37:g.93545418G>A						CHD2_ENST00000557381.1_Silent_p.L1383L	p.L1383L	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)		33	5217	+	Lung NSC(78;0.00976)|all_lung(78;0.016)		1383					C6G482|Q96IP5	Silent	SNP	ENST00000394196.4	37	c.4149G>A	CCDS10374.2																																																																																				0.368	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271		5	115	0	0	0	1	0	5	115				
DCAF12L1	139170	broad.mit.edu	37	X	125685734	125685734	+	Missense_Mutation	SNP	G	G	T			TCGA-V1-A9O9-01A-11D-A41K-08	TCGA-V1-A9O9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcad0c26-dab3-4bf0-9ef6-a5be33131a61	8636a67d-a41b-4d6d-ad70-2f28e9aeda6e	g.chrX:125685734G>T	ENST00000371126.1	-	1	1100	c.858C>A	c.(856-858)ttC>ttA	p.F286L		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	286								p.F286L(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						TCCACAGGTGGAAGTAGCCGT	0.607																																						ENST00000371126.1																			1	Substitution - Missense(1)	p.F286L(1)	lung(1)	breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						c.(856-858)ttC>ttA		DDB1 and CUL4 associated factor 12-like 1							54.0	52.0	53.0					X																	125685734		2203	4300	6503	SO:0001583	missense	139170							g.chrX:125685734G>T	BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"""WD repeat domain containing"""	29395	protein-coding gene	gene with protein product			"""WD repeat domain 40B"""	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.858C>A	X.37:g.125685734G>T	ENSP00000360167:p.Phe286Leu						p.F286L	NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN			1	1100	-			286					Q8IYK3	Missense_Mutation	SNP	ENST00000371126.1	37	c.858C>A	CCDS14610.1	.	.	.	.	.	.	.	.	.	.	G	15.49	2.847799	0.51164	.	.	ENSG00000198889	ENST00000371126	T	0.58940	0.3	3.9	2.14	0.27477	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.37715	N	0.001966	T	0.65186	0.2667	L	0.60455	1.87	0.30296	N	0.789938	D	0.69078	0.997	D	0.75020	0.985	T	0.60717	-0.7208	10	0.41790	T	0.15	.	5.8106	0.18463	0.2497:0.0:0.7503:0.0	.	286	Q5VU92	DC121_HUMAN	L	286	ENSP00000360167:F286L	ENSP00000360167:F286L	F	-	3	2	DCAF12L1	125513415	1.000000	0.71417	0.976000	0.42696	0.498000	0.33706	1.424000	0.34848	0.462000	0.27095	-0.511000	0.04467	TTC		0.607	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058186.1	NM_178470		12	29	1	0	1.5842e-08	1	1.72822e-08	12	29				
RNF213	57674	broad.mit.edu	37	17	78286955	78286955	+	Silent	SNP	C	C	T			TCGA-V1-A9O9-01A-11D-A41K-08	TCGA-V1-A9O9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcad0c26-dab3-4bf0-9ef6-a5be33131a61	8636a67d-a41b-4d6d-ad70-2f28e9aeda6e	g.chr17:78286955C>T	ENST00000582970.1	+	15	2942	c.2799C>T	c.(2797-2799)gtC>gtT	p.V933V	CTD-2047H16.2_ENST00000576808.1_RNA|RNF213_ENST00000456466.1_Silent_p.V933V|RNF213_ENST00000508628.2_Silent_p.V982V|RNF213_ENST00000319921.4_Silent_p.V933V	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	933					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TCACATACGTCAAGGAAATTG	0.498																																						ENST00000582970.1																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(2797-2799)gtC>gtT		ring finger protein 213							118.0	117.0	117.0					17																	78286955		2203	4300	6503	SO:0001819	synonymous_variant	57674							g.chr17:78286955C>T	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.2799C>T	17.37:g.78286955C>T						RNF213_ENST00000319921.4_Silent_p.V933V|RNF213_ENST00000508628.2_Silent_p.V982V|RNF213_ENST00000456466.1_Silent_p.V933V	p.V933V	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		15	2942	+	all_neural(118;0.0538)		933					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	ENST00000582970.1	37	c.2799C>T	CCDS58606.1																																																																																				0.498	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		10	86	0	0	0	1	0	10	86				
LRIF1	55791	broad.mit.edu	37	1	111494472	111494472	+	Missense_Mutation	SNP	G	G	A	rs377597305		TCGA-V1-A9O9-01A-11D-A41K-08	TCGA-V1-A9O9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcad0c26-dab3-4bf0-9ef6-a5be33131a61	8636a67d-a41b-4d6d-ad70-2f28e9aeda6e	g.chr1:111494472G>A	ENST00000369763.4	-	2	1424	c.1034C>T	c.(1033-1035)aCg>aTg	p.T345M	LRIF1_ENST00000485275.2_Intron|LRIF1_ENST00000494675.1_Intron|RP11-96K19.2_ENST00000440689.1_RNA	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	345					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						TTTGGATCGCGTCCCACTAGG	0.353																																						ENST00000369763.4																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						c.(1033-1035)aCg>aTg		ligand dependent nuclear receptor interacting factor 1		G	,MET/THR	0,4406		0,0,2203	81.0	84.0	83.0		,1034	4.7	0.9	1		83	1,8599	1.2+/-3.3	0,1,4299	no	intron,missense	LRIF1	NM_001006945.1,NM_018372.3	,81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,probably-damaging	,345/770	111494472	1,13005	2203	4300	6503	SO:0001583	missense	55791				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding	g.chr1:111494472G>A	AY190122	CCDS30800.1, CCDS41366.1	1p13.3	2011-04-15	2011-04-15	2011-04-15	ENSG00000121931	ENSG00000121931			30299	protein-coding gene	gene with protein product	"""receptor interacting factor 1"""	615354	"""chromosome 1 open reading frame 103"""	C1orf103		17455211	Standard	NM_018372		Approved	RIF1, FLJ11269	uc001eaa.3	Q5T3J3	OTTHUMG00000011913	ENST00000369763.4:c.1034C>T	1.37:g.111494472G>A	ENSP00000358778:p.Thr345Met					RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000485275.2_Intron|LRIF1_ENST00000494675.1_Intron	p.T345M	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN			2	1424	-			345					Q86XS4|Q8N3B6|Q96HT4|Q9NUM5|Q9NV32	Missense_Mutation	SNP	ENST00000369763.4	37	c.1034C>T	CCDS30800.1	.	.	.	.	.	.	.	.	.	.	G	11.08	1.532950	0.27387	0.0	1.16E-4	ENSG00000121931	ENST00000369763	T	0.38887	1.11	5.7	4.74	0.60224	.	0.459218	0.21624	N	0.071581	T	0.33294	0.0858	L	0.27053	0.805	0.80722	D	1	D	0.69078	0.997	P	0.54100	0.742	T	0.17623	-1.0363	10	0.87932	D	0	0.0321	13.8861	0.63710	0.0:0.1537:0.8462:0.0	.	345	Q5T3J3	LRIF1_HUMAN	M	345	ENSP00000358778:T345M	ENSP00000358778:T345M	T	-	2	0	LRIF1	111295995	0.784000	0.28713	0.881000	0.34555	0.162000	0.22319	1.241000	0.32743	2.705000	0.92388	0.591000	0.81541	ACG		0.353	LRIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032932.2	NM_018372		22	64	0	0	0	1	0	22	64				
ARPP21	10777	broad.mit.edu	37	3	35785414	35785414	+	Silent	SNP	C	C	T	rs550779254		TCGA-V1-A9O9-01A-11D-A41K-08	TCGA-V1-A9O9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcad0c26-dab3-4bf0-9ef6-a5be33131a61	8636a67d-a41b-4d6d-ad70-2f28e9aeda6e	g.chr3:35785414C>T	ENST00000187397.4	+	18	2445	c.1989C>T	c.(1987-1989)aaC>aaT	p.N663N	MIR128-2_ENST00000384893.1_RNA|ARPP21_ENST00000444190.1_Silent_p.N644N|ARPP21_ENST00000417925.1_Silent_p.N664N|ARPP21_ENST00000458225.1_Silent_p.N664N|ARPP21_ENST00000337271.5_Silent_p.N644N	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	663	Gln-rich.				cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)	p.N663N(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						TTCAGTACAACGCTCAGAGGA	0.502																																						ENST00000187397.4																			1	Substitution - coding silent(1)	p.N663N(1)	large_intestine(1)	cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						c.(1987-1989)aaC>aaT		cAMP-regulated phosphoprotein, 21kDa							120.0	114.0	116.0					3																	35785414		2203	4300	6503	SO:0001819	synonymous_variant	10777					cytoplasm	nucleic acid binding	g.chr3:35785414C>T	AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"""R3H domain containing 3"""	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.1989C>T	3.37:g.35785414C>T						ARPP21_ENST00000337271.5_Silent_p.N644N|ARPP21_ENST00000444190.1_Silent_p.N644N|ARPP21_ENST00000458225.1_Silent_p.N664N|ARPP21_ENST00000417925.1_Silent_p.N664N	p.N663N	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN			18	2445	+			663			Gln-rich.		B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Silent	SNP	ENST00000187397.4	37	c.1989C>T	CCDS2661.1																																																																																				0.502	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253334.2	NM_198399		13	73	0	0	0	1	0	13	73				
OSBPL11	114885	broad.mit.edu	37	3	125286305	125286305	+	Missense_Mutation	SNP	G	G	C			TCGA-V1-A9O9-01A-11D-A41K-08	TCGA-V1-A9O9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcad0c26-dab3-4bf0-9ef6-a5be33131a61	8636a67d-a41b-4d6d-ad70-2f28e9aeda6e	g.chr3:125286305G>C	ENST00000296220.5	-	6	1090	c.801C>G	c.(799-801)tgC>tgG	p.C267W		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	267					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|positive regulation of sequestering of triglyceride (GO:0010890)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)			NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						AGTCATTTAAGCAGTTCATAG	0.418																																						ENST00000296220.5																			0				NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						c.(799-801)tgC>tgG		oxysterol binding protein-like 11							227.0	209.0	215.0					3																	125286305		2203	4300	6503	SO:0001583	missense	114885				lipid transport		lipid binding	g.chr3:125286305G>C	AF392454	CCDS3033.1	3q21	2013-01-10			ENSG00000144909	ENSG00000144909		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16397	protein-coding gene	gene with protein product		606739					Standard	NM_022776		Approved	ORP-11, ORP11, FLJ13012, FLJ13164	uc003eic.3	Q9BXB4	OTTHUMG00000159571	ENST00000296220.5:c.801C>G	3.37:g.125286305G>C	ENSP00000296220:p.Cys267Trp						p.C267W	NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN			6	1090	-			267					A8K9I7	Missense_Mutation	SNP	ENST00000296220.5	37	c.801C>G	CCDS3033.1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.340888	0.60963	.	.	ENSG00000144909	ENST00000296220	T	0.47177	0.85	4.68	3.72	0.42706	.	0.232399	0.44688	D	0.000434	T	0.67268	0.2875	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.72043	-0.4409	10	0.72032	D	0.01	-5.0856	13.3846	0.60789	0.0883:0.0:0.9117:0.0	.	267	Q9BXB4	OSB11_HUMAN	W	267	ENSP00000296220:C267W	ENSP00000296220:C267W	C	-	3	2	OSBPL11	126768995	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.982000	0.70532	2.415000	0.81967	0.655000	0.94253	TGC		0.418	OSBPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356295.1	NM_022776		8	87	0	0	0	1	0	8	87				
ENAM	10117	broad.mit.edu	37	4	71508119	71508119	+	Silent	SNP	A	A	C			TCGA-V1-A9O9-01A-11D-A41K-08	TCGA-V1-A9O9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcad0c26-dab3-4bf0-9ef6-a5be33131a61	8636a67d-a41b-4d6d-ad70-2f28e9aeda6e	g.chr4:71508119A>C	ENST00000396073.3	+	9	1257	c.976A>C	c.(976-978)Aga>Cga	p.R326R	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	326					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			TCCTAATATAAGAAATTTTCC	0.453																																						ENST00000396073.3																			0				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6						c.(976-978)Aga>Cga		enamelin							85.0	89.0	88.0					4																	71508119		2203	4299	6502	SO:0001819	synonymous_variant	10117				bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel	g.chr4:71508119A>C	AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"""amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"""	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.976A>C	4.37:g.71508119A>C						ENAM_ENST00000472903.1_Intron	p.R326R	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	Lung(101;0.235)		9	1257	+			326					Q17RI5|Q9H3D1	Silent	SNP	ENST00000396073.3	37	c.976A>C	CCDS3544.2																																																																																				0.453	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252166.3	NM_031889		13	64	0	0	0	1	0	13	64				
HNRNPR	10236	broad.mit.edu	37	1	23637069	23637069	+	Frame_Shift_Del	DEL	A	A	-			TCGA-V1-A9O9-01A-11D-A41K-08	TCGA-V1-A9O9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcad0c26-dab3-4bf0-9ef6-a5be33131a61	8636a67d-a41b-4d6d-ad70-2f28e9aeda6e	g.chr1:23637069delA	ENST00000374612.1	-	11	1903	c.1780delT	c.(1780-1782)tggfs	p.W594fs	HNRNPR_ENST00000427764.2_Frame_Shift_Del_p.W556fs|HNRNPR_ENST00000374616.3_Frame_Shift_Del_p.W597fs|HNRNPR_ENST00000426846.2_Frame_Shift_Del_p.W434fs|HNRNPR_ENST00000478691.1_Frame_Shift_Del_p.W496fs|HNRNPR_ENST00000606561.1_Frame_Shift_Del_p.W455fs|HNRNPR_ENST00000302271.6_Frame_Shift_Del_p.W594fs|HNRNPR_ENST00000476660.1_5'UTR	NM_001102398.1|NM_005826.3	NP_001095868.1|NP_005817.1	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	594	Asn/Gln-rich.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		TGGGAACCCCAGTTCTGTTGG	0.502																																						ENST00000478691.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1486-1488)ggfs		heterogeneous nuclear ribonucleoprotein R							202.0	179.0	187.0					1																	23637069		2203	4300	6503	SO:0001589	frameshift_variant	10236					catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr1:23637069delA	AF000364	CCDS232.1, CCDS44085.1, CCDS60020.1, CCDS72726.1, CCDS72727.1	1p36.12	2013-02-12		2007-08-16	ENSG00000125944	ENSG00000125944		"""RNA binding motif (RRM) containing"""	5047	protein-coding gene	gene with protein product		607201		HNRPR		9421497	Standard	XM_005245711		Approved	hnRNP-R	uc001bgp.4	O43390	OTTHUMG00000003224	ENST00000374612.1:c.1780delT	1.37:g.23637069delA	ENSP00000363741:p.Trp594fs					HNRNPR_ENST00000427764.2_Frame_Shift_Del_p.W556fs|HNRNPR_ENST00000426846.2_Frame_Shift_Del_p.W434fs|HNRNPR_ENST00000606561.1_Frame_Shift_Del_p.W455fs|HNRNPR_ENST00000374612.1_Frame_Shift_Del_p.W594fs|HNRNPR_ENST00000374616.3_Frame_Shift_Del_p.W597fs|HNRNPR_ENST00000302271.6_Frame_Shift_Del_p.W594fs|HNRNPR_ENST00000476660.1_5'UTR	p.W496fs	NM_001102397.1|NM_001102399.1	NP_001095867.1|NP_001095869.1	O43390	HNRPR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)	10	1757	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	594			3 X 11 AA approximate repeats of D-D-Y-Y- G-Y-D-Y-H-D-Y.|RNA-binding RGG-box.		Q2L7G6|Q5TEH1|Q9BV64|S4R3J4	Frame_Shift_Del	DEL	ENST00000374612.1	37	c.1486delT	CCDS232.1																																																																																				0.502	HNRNPR-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008889.1	NM_005826		23	145						23	145	---	---	---	---
KIDINS220	57498	broad.mit.edu	37	2	8910799	8910810	+	Splice_Site	DEL	CCTTTCGTAGAT	CCTTTCGTAGAT	-			TCGA-V1-A9O9-01A-11D-A41K-08	TCGA-V1-A9O9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcad0c26-dab3-4bf0-9ef6-a5be33131a61	8636a67d-a41b-4d6d-ad70-2f28e9aeda6e	g.chr2:8910799_8910810delCCTTTCGTAGAT	ENST00000256707.3	-	22	3182_3193	c.3001_3012delATCTACGAAAGG	c.(3001-3012)atctacgaaaggdel	p.IYER1001del	KIDINS220_ENST00000427284.1_Splice_Site_p.IYER1001del|KIDINS220_ENST00000319688.5_Splice_Site_p.IYER1002del|KIDINS220_ENST00000418530.1_Splice_Site_p.IYER959del|KIDINS220_ENST00000473731.1_Splice_Site_p.IYER1001del	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1001					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)	p.E1003K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ACAAAAGGTACCTTTCGTAGATGGTTTTTAAT	0.325																																						ENST00000256707.3																			1	Substitution - Missense(1)	p.E1003K(1)	large_intestine(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60						c.e22+1		kinase D-interacting substrate, 220kDa																																				SO:0001630	splice_region_variant	57498				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		g.chr2:8910799_8910810delCCTTTCGTAGAT	AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"""Ankyrin repeat domain containing"""	29508	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.3011+1ATCTACGAAAGG>-	2.37:g.8910799_8910810delCCTTTCGTAGAT						KIDINS220_ENST00000473731.1_Splice_Site_p.1001_splice|KIDINS220_ENST00000427284.1_Splice_Site_p.1001_splice|KIDINS220_ENST00000418530.1_Splice_Site_p.959_splice|KIDINS220_ENST00000319688.5_Splice_Site_p.1002_splice	p.1001_splice	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN			22	3182_3193	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		1001					A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Splice_Site	DEL	ENST00000256707.3	37	c.3011_splice	CCDS42650.1																																																																																				0.325	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	NM_020738	In_Frame_Del	7	34						7	34	---	---	---	---
ADH1C	126	broad.mit.edu	37	4	100261040	100261041	+	RNA	INS	-	-	A	rs3216150|rs373899105	byFrequency	TCGA-V1-A9O9-01A-11D-A41K-08	TCGA-V1-A9O9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcad0c26-dab3-4bf0-9ef6-a5be33131a61	8636a67d-a41b-4d6d-ad70-2f28e9aeda6e	g.chr4:100261040_100261041insA	ENST00000515683.1	-	0	1316					NM_000669.3	NP_000660.1	P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|zinc ion binding (GO:0008270)								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Ethanol(DB00898)|Fomepizole(DB01213)	AGTGCTTTCACAAAAAAAATCA	0.327													|||unknown(NO_COVERAGE)	1065	0.21266	0.0946	0.2709	5008	,	,		17244	0.0764		0.4026	False		,,,				2504	0.2761					ENST00000515683.1																			0													alcohol dehydrogenase 1C (class I), gamma polypeptide	Fomepizole(DB01213)|NADH(DB00157)																																					126				ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding	g.chr4:100261040_100261041insA	M12272		4q23	2010-03-16			ENSG00000248144	ENSG00000248144	1.1.1.1	"""Alcohol dehydrogenases"""	251	protein-coding gene	gene with protein product		103730		ADH3		3006456	Standard	NM_000669		Approved		uc031sgp.1	P00326	OTTHUMG00000161422		4.37:g.100261048_100261048dupA								NM_000669.3	NP_000660.1	P00326	ADH1G_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	0	1316	-								Q4PJ18|Q5WRV0|Q6LBW4|Q6NWV0|Q6NZA7	RNA	INS	ENST00000515683.1	37																																																																																						0.327	ADH1C-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000364877.2	NM_000669		2	4						2	4	---	---	---	---
ZSCAN10	84891	broad.mit.edu	37	16	3140425	3140425	+	Frame_Shift_Del	DEL	C	C	-			TCGA-V1-A9O9-01A-11D-A41K-08	TCGA-V1-A9O9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcad0c26-dab3-4bf0-9ef6-a5be33131a61	8636a67d-a41b-4d6d-ad70-2f28e9aeda6e	g.chr16:3140425delC	ENST00000252463.2	-	5	932	c.845delG	c.(844-846)ggcfs	p.G282fs	ZSCAN10_ENST00000538082.2_Frame_Shift_Del_p.G200fs|ZSCAN10_ENST00000575108.1_5'UTR	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	282					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						CTCGGGGACGCCCTCAGCCAC	0.657																																						ENST00000252463.2																			0				breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						c.(844-846)gcfs		zinc finger and SCAN domain containing 10							71.0	74.0	73.0					16																	3140425		2181	4271	6452	SO:0001589	frameshift_variant	84891				negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:3140425delC	AA206569	CCDS10493.1, CCDS61813.1, CCDS61814.1	16p13.3	2013-01-08	2007-02-20	2007-02-20		ENSG00000130182		"""-"", ""Zinc fingers, C2H2-type"""	12997	protein-coding gene	gene with protein product			"""zinc finger protein 206"""	ZNF206		9653642	Standard	NM_032805		Approved		uc002ctv.1	Q96SZ4		ENST00000252463.2:c.845delG	16.37:g.3140425delC	ENSP00000252463:p.Gly282fs					ZSCAN10_ENST00000575108.1_5'UTR|ZSCAN10_ENST00000538082.2_Frame_Shift_Del_p.G200fs	p.G282fs	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN			5	932	-			282					B3KQD3|H0YFS6|Q1WWM2	Frame_Shift_Del	DEL	ENST00000252463.2	37	c.845delG	CCDS10493.1																																																																																				0.657	ZSCAN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437124.2	NM_032805		9	102						9	102	---	---	---	---
GRIN3B	116444	broad.mit.edu	37	19	1009186	1009188	+	In_Frame_Del	DEL	AGC	AGC	-	rs142853420	byFrequency	TCGA-V1-A9O9-01A-11D-A41K-08	TCGA-V1-A9O9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcad0c26-dab3-4bf0-9ef6-a5be33131a61	8636a67d-a41b-4d6d-ad70-2f28e9aeda6e	g.chr19:1009186_1009188delAGC	ENST00000234389.3	+	9	2736_2738	c.2717_2719delAGC	c.(2716-2721)gagcag>gag	p.Q912del		NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	912					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|protein insertion into membrane (GO:0051205)|regulation of calcium ion transport (GO:0051924)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|neurotransmitter receptor activity (GO:0030594)			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		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)	Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CCCGAGGTGGagcagcagcagca	0.744														602	0.120208	0.0983	0.0677	5008	,	,		9784	0.1657		0.0815	False		,,,				2504	0.18					ENST00000234389.3																			0				breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(2716-2721)gag>g		glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)																																			SO:0001651	inframe_deletion	116444				ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity	g.chr19:1009186_1009188delAGC		CCDS32861.1	19p13.3	2014-05-06			ENSG00000116032	ENSG00000116032		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16768	protein-coding gene	gene with protein product		606651					Standard	XM_003403700		Approved	GluN3B	uc002lqo.1	O60391	OTTHUMG00000181904	ENST00000234389.3:c.2717_2719delAGC	19.37:g.1009195_1009197delAGC	ENSP00000234389:p.Gln912del						p.EQ906del	NM_138690.1	NP_619635.1	O60391	NMD3B_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)	9	2736_2738	+		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)	906					Q5EAK7|Q7RTW9	In_Frame_Del	DEL	ENST00000234389.3	37	c.2717_2719delAGC	CCDS32861.1																																																																																				0.744	GRIN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103923.2			4	3						4	3	---	---	---	---
NRIP1	8204	broad.mit.edu	37	21	16339835	16339835	+	Frame_Shift_Del	DEL	T	T	-			TCGA-V1-A9O9-01A-11D-A41K-08	TCGA-V1-A9O9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcad0c26-dab3-4bf0-9ef6-a5be33131a61	8636a67d-a41b-4d6d-ad70-2f28e9aeda6e	g.chr21:16339835delT	ENST00000400202.1	-	3	1391	c.679delA	c.(679-681)acafs	p.T227fs	NRIP1_ENST00000318948.4_Frame_Shift_Del_p.T227fs|NRIP1_ENST00000400199.1_Frame_Shift_Del_p.T227fs			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	227	Interaction with ZNF366.|Repression domain 1.				androgen receptor signaling pathway (GO:0030521)|lipid storage (GO:0019915)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ovarian follicle rupture (GO:0001543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|glucocorticoid receptor binding (GO:0035259)|nuclear hormone receptor binding (GO:0035257)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		ATGACCTTTGTTCCACTTTGT	0.443																																						ENST00000400202.1																			0				cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39						c.(679-681)cafs		nuclear receptor interacting protein 1							189.0	161.0	170.0					21																	16339835		2203	4300	6503	SO:0001589	frameshift_variant	8204				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity	g.chr21:16339835delT	X84373	CCDS13568.1	21q11.2	2008-07-31			ENSG00000180530	ENSG00000180530			8001	protein-coding gene	gene with protein product	"""receptor interacting protein 140"", ""nuclear factor RIP140"""	602490				7641693, 9521594	Standard	NM_003489		Approved	RIP140	uc002yjx.2	P48552	OTTHUMG00000074323	ENST00000400202.1:c.679delA	21.37:g.16339835delT	ENSP00000383063:p.Thr227fs					NRIP1_ENST00000318948.4_Frame_Shift_Del_p.T227fs|NRIP1_ENST00000400199.1_Frame_Shift_Del_p.T227fs	p.T227fs			P48552	NRIP1_HUMAN		Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)	3	1391	-			227			Repression domain 1.		Q8IWE8	Frame_Shift_Del	DEL	ENST00000400202.1	37	c.679delA	CCDS13568.1																																																																																				0.443	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157926.1	NM_003489		39	112						39	112	---	---	---	---
MAPK8IP2	23542	broad.mit.edu	37	22	51041769	51041771	+	In_Frame_Del	DEL	GAG	GAG	-	rs572434194	byFrequency	TCGA-V1-A9O9-01A-11D-A41K-08	TCGA-V1-A9O9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcad0c26-dab3-4bf0-9ef6-a5be33131a61	8636a67d-a41b-4d6d-ad70-2f28e9aeda6e	g.chr22:51041769_51041771delGAG	ENST00000329492.3	+	3	406_408	c.289_291delGAG	c.(289-291)gagdel	p.E103del	MAPK8IP2_ENST00000008876.5_In_Frame_Del_p.E76del|MAPK8IP2_ENST00000341339.4_Intron|MAPK8IP2_ENST00000442429.2_In_Frame_Del_p.E103del|CHKB_ENST00000463053.1_5'Flank|MAPK8IP2_ENST00000399908.2_5'UTR|MAPK8IP2_ENST00000399912.1_5'UTR	NM_012324.3	NP_036456.1	Q13387	JIP2_HUMAN	mitogen-activated protein kinase 8 interacting protein 2	103	Asp/Glu-rich (acidic).				behavioral fear response (GO:0001662)|dendrite morphogenesis (GO:0048813)|MAPK cascade (GO:0000165)|nonassociative learning (GO:0046958)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of signal transduction (GO:0009967)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of JNK cascade (GO:0046328)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of receptor activity (GO:0010469)|regulation of synaptic transmission, glutamatergic (GO:0051966)|signal complex assembly (GO:0007172)|social behavior (GO:0035176)	cytoplasm (GO:0005737)|neuronal postsynaptic density (GO:0097481)	beta-amyloid binding (GO:0001540)|kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)	p.E97delE(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		ggacgaggaagaggaggaggagg	0.631														10	0.00199681	0.003	0.0014	5008	,	,		18122	0.001		0.0	False		,,,				2504	0.0041					ENST00000329492.3																			1	Deletion - In frame(1)	p.E97delE(1)	prostate(1)	central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7						c.(289-291)del		mitogen-activated protein kinase 8 interacting protein 2			,	17,100,3819		3,0,11,9,82,1863					,	-7.2	0.1			25	5,202,7773		0,0,5,21,160,3804	no	codingComplex,codingComplex	MAPK8IP2	NM_016431.3,NM_012324.3	,	3,0,16,30,242,5667	A1A1,A1A2,A1R,A2A2,A2R,RR		2.594,2.9726,2.719	,	,		22,302,11592				SO:0001651	inframe_deletion	23542				behavioral fear response|dendrite morphogenesis|MAPKKK cascade|nonassociative learning|positive regulation of anti-apoptosis|regulation of excitatory postsynaptic membrane potential|regulation of JNK cascade|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior	cytoplasm|postsynaptic density	beta-amyloid binding|kinesin binding|MAP-kinase scaffold activity|protein kinase activator activity|protein kinase binding	g.chr22:51041769_51041771delGAG	AL021708	CCDS74886.1	22q13.33	2010-04-06			ENSG00000008735	ENSG00000008735			6883	protein-coding gene	gene with protein product	"""islet-brain 2"", ""JNK-interacting protein 2"""	607755	"""PRKM8 interacting protein-like"""	PRKM8IPL		10490659	Standard	NM_012324		Approved	IB2, JIP2	uc003bmy.3	Q13387	OTTHUMG00000150181	ENST00000329492.3:c.289_291delGAG	22.37:g.51041778_51041780delGAG	ENSP00000330572:p.Glu103del					MAPK8IP2_ENST00000399908.2_5'UTR|MAPK8IP2_ENST00000442429.2_In_Frame_Del_p.E103del|MAPK8IP2_ENST00000341339.4_Intron|MAPK8IP2_ENST00000008876.5_In_Frame_Del_p.E76del|MAPK8IP2_ENST00000399912.1_5'UTR	p.E103del	NM_012324.3	NP_036456.1	Q13387	JIP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	3	406_408	+		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	103			Asp/Glu-rich (acidic).		Q96G62|Q99771|Q9NZ59|Q9UKQ4	In_Frame_Del	DEL	ENST00000329492.3	37	c.289_291delGAG																																																																																					0.631	MAPK8IP2-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_012324		2	4						2	4	---	---	---	---
MAGED1	9500	broad.mit.edu	37	X	51637410	51637410	+	Frame_Shift_Del	DEL	A	A	-			TCGA-V1-A9O9-01A-11D-A41K-08	TCGA-V1-A9O9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcad0c26-dab3-4bf0-9ef6-a5be33131a61	8636a67d-a41b-4d6d-ad70-2f28e9aeda6e	g.chrX:51637410delA	ENST00000375722.1	+	2	262	c.10delA	c.(10-12)aaafs	p.K4fs	MAGED1_ENST00000326587.7_Frame_Shift_Del_p.K4fs|MAGED1_ENST00000375695.2_Frame_Shift_Del_p.K4fs|MAGED1_ENST00000375772.3_Frame_Shift_Del_p.K4fs|MAGED1_ENST00000494718.1_3'UTR			Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	4					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|circadian regulation of gene expression (GO:0032922)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of circadian rhythm (GO:0042752)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					CATGGCTCAGAAAATGGACTG	0.627										Multiple Myeloma(10;0.10)	OREG0019786	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000375695.2																			0				breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32						c.(10-12)aafs		melanoma antigen family D, 1							26.0	21.0	23.0					X																	51637410		2200	4295	6495	SO:0001589	frameshift_variant	9500				apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding	g.chrX:51637410delA	AF124440	CCDS14337.1, CCDS35279.1	Xp11.23	2008-08-01			ENSG00000179222	ENSG00000179222			6813	protein-coding gene	gene with protein product		300224				10409427	Standard	NM_006986		Approved	NRAGE, DLXIN-1	uc004dpn.3	Q9Y5V3	OTTHUMG00000021540	ENST00000375722.1:c.10delA	X.37:g.51637410delA	ENSP00000364874:p.Lys4fs	Multiple Myeloma(10;0.10)	OREG0019786	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	978	MAGED1_ENST00000326587.7_Frame_Shift_Del_p.K4fs|MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000375722.1_Frame_Shift_Del_p.K4fs|MAGED1_ENST00000375772.3_Frame_Shift_Del_p.K4fs	p.K4fs	NM_001005333.1	NP_001005333.1	Q9Y5V3	MAGD1_HUMAN			2	163	+	Ovarian(276;0.236)		0					Q5VSH6|Q8IZ84|Q8WY92|Q9H352|Q9HBT4|Q9UF36	Frame_Shift_Del	DEL	ENST00000375722.1	37	c.10delA	CCDS14337.1																																																																																				0.627	MAGED1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056593.1	NM_001005332		2	4						2	4	---	---	---	---
