#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
MAGEA12	4111	broad.mit.edu	37	X	151896589	151896589	+	IGR	SNP	C	C	A			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chrX:151896589C>A	ENST00000357916.4	-	0	1664				CSAG4_ENST00000361201.4_RNA	NM_005367.5	NP_005358.2	P43365	MAGAC_HUMAN	melanoma antigen family A, 12									p.L11F(1)		breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GGTTGTTGGACAATGGGCTGG	0.557																																						ENST00000361201.4																			1	Substitution - Missense(1)	p.L11F(1)	kidney(1)	endometrium(2)|kidney(2)|lung(1)	5																																												SO:0001628	intergenic_variant	0							g.chrX:151896589C>A		CCDS76048.1	Xq28	2009-03-13			ENSG00000213401	ENSG00000213401			6799	protein-coding gene	gene with protein product	"""cancer/testis antigen family 1, member 12"""	300177		MAGE12		8575766	Standard	NM_001166386		Approved	CT1.12	uc004fgc.3	P43365	OTTHUMG00000022650		X.37:g.151896589C>A								NR_073432.1						0	351	-								Q9NSD3	RNA	SNP	ENST00000357916.4	37		CCDS14710.1																																																																																				0.557	MAGEA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058764.1	NM_005367		4	67	1	0	0.0215528	1	0.0219376	4	67				
SPTA1	6708	broad.mit.edu	37	1	158631121	158631121	+	Missense_Mutation	SNP	C	C	T	rs550425124		TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr1:158631121C>T	ENST00000368147.4	-	18	2723	c.2543G>A	c.(2542-2544)cGc>cAc	p.R848H		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	848					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTCTTGAATGCGTGGTTCATG	0.438													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17515	0.0		0.0	False		,,,				2504	0.0					ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(2542-2544)cGc>cAc		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							255.0	248.0	250.0					1																	158631121		1937	4151	6088	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158631121C>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.2543G>A	1.37:g.158631121C>T	ENSP00000357129:p.Arg848His					SPTA1_ENST00000368147.3_Missense_Mutation_p.R848H	p.R848H	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			18	2723	-	all_hematologic(112;0.0378)		848					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.2543G>A	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.735718	0.49045	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.55052	0.54;0.54	4.81	2.72	0.32119	.	.	.	.	.	T	0.33556	0.0867	M	0.72894	2.215	0.40931	D	0.98439	P	0.36065	0.535	B	0.33690	0.168	T	0.23190	-1.0195	9	0.54805	T	0.06	.	9.8666	0.41148	0.0:0.8171:0.0:0.1829	.	848	P02549	SPTA1_HUMAN	H	848	ENSP00000357130:R848H;ENSP00000357129:R848H	ENSP00000357129:R848H	R	-	2	0	SPTA1	156897745	0.991000	0.36638	0.990000	0.47175	0.157000	0.22087	0.700000	0.25601	0.502000	0.28037	0.650000	0.86243	CGC		0.438	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		49	123	0	0	0	1	0	49	123				
ARRDC5	645432	broad.mit.edu	37	19	4891081	4891081	+	Missense_Mutation	SNP	C	C	T	rs370201794		TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr19:4891081C>T	ENST00000381781.2	-	3	1005	c.1006G>A	c.(1006-1008)Gtg>Atg	p.V336M	AC027319.1_ENST00000408608.1_RNA	NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN	arrestin domain containing 5	336										endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		TCTGGGTTCACGGGTAACACT	0.507																																						ENST00000381781.2																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12						c.(1006-1008)Gtg>Atg		arrestin domain containing 5		C	MET/VAL	0,4016		0,0,2008	73.0	74.0	74.0		1006	-4.3	0.0	19		74	1,8363		0,1,4181	no	missense	ARRDC5	NM_001080523.1	21	0,1,6189	TT,TC,CC		0.012,0.0,0.0081	benign	336/343	4891081	1,12379	2008	4182	6190	SO:0001583	missense	645432				signal transduction			g.chr19:4891081C>T		CCDS45929.1	19p13.3	2007-10-05				ENSG00000205784			31407	protein-coding gene	gene with protein product						12886014	Standard	NM_001080523		Approved		uc002mbm.3	A6NEK1		ENST00000381781.2:c.1006G>A	19.37:g.4891081C>T	ENSP00000371200:p.Val336Met						p.V336M	NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)	3	1005	-			336						Missense_Mutation	SNP	ENST00000381781.2	37	c.1006G>A	CCDS45929.1	.	.	.	.	.	.	.	.	.	.	C	4.508	0.094169	0.08632	0.0	1.2E-4	ENSG00000205784	ENST00000381781	T	0.22743	1.94	2.16	-4.32	0.03688	Immunoglobulin E-set (1);	2.623780	0.02045	N	0.049566	T	0.11452	0.0279	N	0.19112	0.55	0.09310	N	1	B	0.15473	0.013	B	0.06405	0.002	T	0.14144	-1.0483	10	0.46703	T	0.11	.	0.8271	0.01123	0.1731:0.2213:0.3432:0.2624	.	336	A6NEK1	ARRD5_HUMAN	M	336	ENSP00000371200:V336M	ENSP00000371200:V336M	V	-	1	0	ARRDC5	4842081	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.289000	0.02780	-1.262000	0.02459	-0.181000	0.13052	GTG		0.507	ARRDC5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450443.1	XM_292803		12	51	0	0	0	1	0	12	51				
CLIC2	1193	broad.mit.edu	37	X	154507271	154507271	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chrX:154507271C>T	ENST00000369449.2	-	6	883	c.665G>A	c.(664-666)cGt>cAt	p.R222H	CLIC2_ENST00000465553.1_5'UTR	NM_001289.4	NP_001280.3	O15247	CLIC2_HUMAN	chloride intracellular channel 2	222	C-terminal.|GST C-terminal.				chloride transmembrane transport (GO:1902476)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|oxidation-reduction process (GO:0055114)|positive regulation of binding (GO:0051099)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|signal transduction (GO:0007165)|transport (GO:0006810)	chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	chloride channel activity (GO:0005254)|glutathione peroxidase activity (GO:0004602)|voltage-gated chloride channel activity (GO:0005247)	p.R222H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	18	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AAATTCTTCACGGGCATAGGC	0.408																																					Melanoma(108;581 1592 2289 21669 28822)	ENST00000369449.2																			1	Substitution - Missense(1)	p.R222H(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	18						c.(664-666)cGt>cAt		chloride intracellular channel 2							119.0	106.0	110.0					X																	154507271		2203	4300	6503	SO:0001583	missense	1193				signal transduction	chloride channel complex|cytoplasm|nucleus	voltage-gated chloride channel activity	g.chrX:154507271C>T	AJ000217	CCDS14767.1	Xq28	2012-09-26			ENSG00000155962	ENSG00000155962		"""Ion channels / Chloride channels : Intracellular"""	2063	protein-coding gene	gene with protein product		300138				9339381	Standard	NM_001289		Approved	XAP121	uc004fnf.3	O15247	OTTHUMG00000022660	ENST00000369449.2:c.665G>A	X.37:g.154507271C>T	ENSP00000358460:p.Arg222His					CLIC2_ENST00000465553.1_5'UTR	p.R222H	NM_001289.4	NP_001280.3	O15247	CLIC2_HUMAN			6	883	-	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		222			C-terminal.|GST C-terminal.		A8K9S0|O15174|Q5JT80|Q8TCE3	Missense_Mutation	SNP	ENST00000369449.2	37	c.665G>A	CCDS14767.1	.	.	.	.	.	.	.	.	.	.	c	15.93	2.977215	0.53720	.	.	ENSG00000155962	ENST00000369449	D	0.95656	-3.77	4.86	3.06	0.35304	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);	0.117284	0.56097	D	0.000026	D	0.92090	0.7493	M	0.79258	2.445	0.34860	D	0.742554	P	0.49635	0.926	B	0.34180	0.177	D	0.91251	0.5029	10	0.33940	T	0.23	-7.638	8.0184	0.30395	0.0:0.7934:0.0:0.2066	.	222	O15247	CLIC2_HUMAN	H	222	ENSP00000358460:R222H	ENSP00000358460:R222H	R	-	2	0	CLIC2	154160465	0.985000	0.35326	1.000000	0.80357	0.875000	0.50365	3.356000	0.52269	0.991000	0.38814	-0.268000	0.10319	CGT		0.408	CLIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058793.1	NM_001289		4	72	0	0	0	1	0	4	72				
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74819697	74819697	+	Missense_Mutation	SNP	G	G	A	rs201470572		TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr1:74819697G>A	ENST00000370899.3	+	13	1401	c.1364G>A	c.(1363-1365)cGc>cAc	p.R455H	TNNI3K_ENST00000326637.3_Missense_Mutation_p.R354H|FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.R468H|TNNI3K_ENST00000370891.2_Missense_Mutation_p.R455H|RP11-439H8.4_ENST00000415549.2_RNA|FPGT-TNNI3K_ENST00000370895.1_Missense_Mutation_p.R455H	NM_001199327.1	NP_001186256			FPGT-TNNI3K readthrough									p.R354H(2)									GGTCACATTCGCCTGGTTCAG	0.403																																						ENST00000370895.1																			2	Substitution - Missense(2)	p.R354H(2)	large_intestine(2)								c.(1363-1365)cGc>cAc									155.0	135.0	142.0					1																	74819697		2203	4300	6503	SO:0001583	missense	0					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding	g.chr1:74819697G>A			1p31.3	2014-03-14			ENSG00000259030	ENSG00000259030			42952	other	readthrough							Standard	NM_001112808		Approved		uc001dge.2		OTTHUMG00000166281	ENST00000370899.3:c.1364G>A	1.37:g.74819697G>A	ENSP00000359936:p.Arg455His					TNNI3K_ENST00000370891.2_Missense_Mutation_p.R455H|TNNI3K_ENST00000326637.3_Missense_Mutation_p.R354H|FPGT-TNNI3K_ENST00000370899.3_Missense_Mutation_p.R455H|FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.R455H|RP11-439H8.4_ENST00000415549.2_RNA	p.R455H			Q59H18	TNI3K_HUMAN			13	1399	+			354						Missense_Mutation	SNP	ENST00000370899.3	37	c.1364G>A		.	.	.	.	.	.	.	.	.	.	G	18.04	3.534936	0.64972	.	.	ENSG00000259030;ENSG00000259030;ENSG00000259030;ENSG00000116783;ENSG00000116783	ENST00000370899;ENST00000370895;ENST00000557284;ENST00000370891;ENST00000326637	T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;-0.12	5.22	0.237	0.15475	Ankyrin repeat-containing domain (4);	0.104545	0.64402	N	0.000002	T	0.53916	0.1826	L	0.41124	1.26	0.52099	D	0.999941	B;P;P;D	0.89917	0.35;0.765;0.874;1.0	B;B;B;D	0.83275	0.141;0.125;0.165;0.996	T	0.52064	-0.8625	10	0.29301	T	0.29	.	9.8896	0.41283	0.3339:0.0:0.6661:0.0	.	354;455;455;455	Q59H18;Q59H18-1;Q59H18-4;Q59H18-3	TNI3K_HUMAN;.;.;.	H	455;455;455;455;354	ENSP00000359936:R455H;ENSP00000359932:R455H;ENSP00000450895:R455H;ENSP00000359928:R455H;ENSP00000322251:R354H	ENSP00000322251:R354H	R	+	2	0	RP11-653A5.2;AC093158.1	74592285	1.000000	0.71417	0.993000	0.49108	0.977000	0.68977	3.113000	0.50376	-0.095000	0.12351	-0.126000	0.14955	CGC		0.403	FPGT-TNNI3K-003	NOVEL	basic|appris_candidate|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000026438.3			9	105	0	0	0	1	0	9	105				
FGFBP2	83888	broad.mit.edu	37	4	15964674	15964674	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr4:15964674C>T	ENST00000259989.6	-	1	185	c.79G>A	c.(79-81)Gga>Aga	p.G27R	FGFBP2_ENST00000509331.1_Intron	NM_031950.3	NP_114156.1	Q9BYJ0	FGFP2_HUMAN	fibroblast growth factor binding protein 2	27						extracellular region (GO:0005576)				central_nervous_system(1)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	9						CCAGTGCTTCCTTGCTTTTGC	0.577																																						ENST00000259989.6																			0				central_nervous_system(1)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(79-81)Gga>Aga		fibroblast growth factor binding protein 2							70.0	62.0	65.0					4																	15964674		2203	4300	6503	SO:0001583	missense	83888					extracellular space	growth factor binding	g.chr4:15964674C>T	AB021123	CCDS3419.1	4p15.32	2008-07-16			ENSG00000137441	ENSG00000137441			29451	protein-coding gene	gene with protein product	"""killer-specific secretory protein of 37 kDa"""	607713				11342666, 12322897	Standard	NM_031950		Approved	KSP37	uc003gon.3	Q9BYJ0	OTTHUMG00000128513	ENST00000259989.6:c.79G>A	4.37:g.15964674C>T	ENSP00000259989:p.Gly27Arg					FGFBP2_ENST00000509331.1_Intron	p.G27R	NM_031950.3	NP_114156.1	Q9BYJ0	FGFP2_HUMAN			1	185	-			27						Missense_Mutation	SNP	ENST00000259989.6	37	c.79G>A	CCDS3419.1	.	.	.	.	.	.	.	.	.	.	C	4.863	0.160354	0.09287	.	.	ENSG00000137441	ENST00000259989	T	0.14391	2.51	2.98	-0.787	0.10943	.	0.879670	0.09515	N	0.791814	T	0.05456	0.0144	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.12156	0.007	T	0.45234	-0.9275	10	0.08179	T	0.78	-0.6653	6.8372	0.23943	0.0:0.3765:0.0:0.6235	.	27	Q9BYJ0	FGFP2_HUMAN	R	27	ENSP00000259989:G27R	ENSP00000259989:G27R	G	-	1	0	FGFBP2	15573772	0.183000	0.23186	0.009000	0.14445	0.046000	0.14306	0.239000	0.18023	-0.141000	0.11374	-0.157000	0.13467	GGA		0.577	FGFBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250324.1	NM_031950		12	36	0	0	0	1	0	12	36				
DCLRE1B	64858	broad.mit.edu	37	1	114450813	114450813	+	Splice_Site	SNP	G	G	A			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr1:114450813G>A	ENST00000369563.3	+	3	984	c.538G>A	c.(538-540)Gga>Aga	p.G180R	DCLRE1B_ENST00000466480.1_3'UTR	NM_022836.3	NP_073747.1	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B	180					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|protection from non-homologous end joining at telomere (GO:0031848)|telomere maintenance (GO:0000723)|telomeric 3' overhang formation (GO:0031860)|telomeric loop formation (GO:0031627)	centrosome (GO:0005813)|chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CATAAAGATTGGTGAGTTGTT	0.428								Other identified genes with known or suspected DNA repair function																														ENST00000369563.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18						c.e3+1	Other identified genes with known or suspected DNA repair function	DNA cross-link repair 1B							127.0	126.0	126.0					1																	114450813		2203	4300	6503	SO:0001630	splice_region_variant	64858				cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding	g.chr1:114450813G>A	BC029687	CCDS866.1	1p11.1	2010-06-24	2010-06-24		ENSG00000118655	ENSG00000118655			17641	protein-coding gene	gene with protein product	"""APOLLO"", ""PSO2 homolog (S. cerevisiae)"""	609683	"""DNA cross-link repair 1B (PSO2 homolog, S. cerevisiae)"""				Standard	NM_022836		Approved	SNM1B, FLJ12810, FLJ13998	uc001eeg.3	Q9H816	OTTHUMG00000011937	ENST00000369563.3:c.538+1G>A	1.37:g.114450813G>A						DCLRE1B_ENST00000466480.1_3'UTR	p.G180_splice	NM_022836.3	NP_073747.1	Q9H816	DCR1B_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	984	+	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)	180					Q9H9E5	Splice_Site	SNP	ENST00000369563.3	37	c.538_splice	CCDS866.1	.	.	.	.	.	.	.	.	.	.	G	34	5.301478	0.95601	.	.	ENSG00000118655	ENST00000369563	T	0.75154	-0.91	5.62	5.62	0.85841	.	0.048246	0.85682	D	0.000000	D	0.84079	0.5393	M	0.71036	2.16	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.83699	0.0181	10	0.52906	T	0.07	-3.1548	19.6415	0.95760	0.0:0.0:1.0:0.0	.	180	Q9H816	DCR1B_HUMAN	R	180	ENSP00000358576:G180R	ENSP00000358576:G180R	G	+	1	0	DCLRE1B	114252336	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.336000	0.96533	2.651000	0.90000	0.561000	0.74099	GGA		0.428	DCLRE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033020.2	NM_022836	Missense_Mutation	17	55	0	0	0	1	0	17	55				
MUC3A	4584	broad.mit.edu	37	7	100551377	100551377	+	Missense_Mutation	SNP	G	G	A	rs201092711	byFrequency	TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr7:100551377G>A	ENST00000319509.7	+	1	128	c.128G>A	c.(127-129)cGa>cAa	p.R43Q				Q02505	MUC3A_HUMAN	mucin 3A, cell surface associated	1708					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|extracellular matrix structural constituent (GO:0005201)			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						ACAAGCCTACGAACTCTCACC	0.502																																						ENST00000319509.7																			0				breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						c.(127-129)cGa>cAa		mucin 3A, cell surface associated							153.0	148.0	149.0					7																	100551377		876	1991	2867	SO:0001583	missense	4584							g.chr7:100551377G>A	AF113616		7q22.1	2012-04-20	2006-03-14		ENSG00000169894	ENSG00000169894		"""Mucins"""	7513	protein-coding gene	gene with protein product		158371	"""mucin 3A, intestinal"""	MUC3		2393399, 10973822	Standard	XM_006710192		Approved		uc003uxl.1	Q02505	OTTHUMG00000157038	ENST00000319509.7:c.128G>A	7.37:g.100551377G>A	ENSP00000324834:p.Arg43Gln						p.R43Q							1	128	+								O14650|O14651|O43418|O43421|Q02506|Q6W763|Q9H3Q7|Q9UKW9|Q9UN93|Q9UN94|Q9UN95	Missense_Mutation	SNP	ENST00000319509.7	37	c.128G>A		.	.	.	.	.	.	.	.	.	.	G	0.036	-1.308930	0.01342	.	.	ENSG00000169894	ENST00000319509	T	0.06687	3.27	0.799	-1.6	0.08426	.	.	.	.	.	T	0.02848	0.0085	N	0.08118	0	0.18873	N	0.999981	.	.	.	.	.	.	T	0.37384	-0.9708	6	0.12430	T	0.62	.	0.9903	0.01455	0.3356:0.3347:0.1778:0.1518	.	.	.	.	Q	43	ENSP00000324834:R43Q	ENSP00000324834:R43Q	R	+	2	0	MUC3A	100389313	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.969000	0.01506	-3.520000	0.00148	-2.583000	0.00167	CGA		0.502	MUC3A-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347215.1	XM_001725354		4	83	0	0	0	1	0	4	83				
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr11:3427845C>T	ENST00000529482.1	+	0	962									tumor suppressing subtransferable candidate 2 pseudogene																		CTTCAAGTGGCAGGAGCAGAA	0.587																																						ENST00000529482.1																			0																																																			0							g.chr11:3427845C>T			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427845C>T														0	962	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.587	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			5	51	0	0	0	1	0	5	51				
NOMO1	23420	broad.mit.edu	37	16	14989438	14989438	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr16:14989438C>T	ENST00000287667.7	+	31	3776	c.3605C>T	c.(3604-3606)tCt>tTt	p.S1202F		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	1202						integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						CAGGCAGCCTCTGACAATAGC	0.552																																						ENST00000287667.7																			0				endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						c.(3604-3606)tCt>tTt		NODAL modulator 1							248.0	315.0	292.0					16																	14989438		2193	4298	6491	SO:0001583	missense	23420					integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding	g.chr16:14989438C>T	X57398	CCDS10556.1	16p13.11	2008-02-05			ENSG00000103512	ENSG00000103512			30060	protein-coding gene	gene with protein product		609157				1310294, 15257293	Standard	NM_014287		Approved	PM5	uc002dcv.3	Q15155	OTTHUMG00000090541	ENST00000287667.7:c.3605C>T	16.37:g.14989438C>T	ENSP00000287667:p.Ser1202Phe						p.S1202F	NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN			31	3776	+			1202					P78421|Q8IW21|Q96DG0	Missense_Mutation	SNP	ENST00000287667.7	37	c.3605C>T	CCDS10556.1	.	.	.	.	.	.	.	.	.	.	C	15.16	2.751135	0.49257	.	.	ENSG00000103512	ENST00000287667;ENST00000456867;ENST00000536948	T	0.47177	0.85	2.99	2.99	0.34606	.	0.224065	0.39407	N	0.001374	T	0.39253	0.1071	N	0.22421	0.69	0.43114	D	0.994825	P	0.50943	0.94	P	0.48030	0.564	T	0.41502	-0.9505	10	0.59425	D	0.04	-13.786	11.8153	0.52207	0.0:1.0:0.0:0.0	.	1202	Q15155	NOMO1_HUMAN	F	1202;1202;1035	ENSP00000287667:S1202F	ENSP00000287667:S1202F	S	+	2	0	NOMO1	14896939	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	3.941000	0.56607	1.681000	0.50988	0.384000	0.25694	TCT		0.552	NOMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207065.1			6	529	0	0	0	1	0	6	529				
TIMM13	26517	broad.mit.edu	37	19	2427323	2427323	+	Splice_Site	SNP	C	C	A			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr19:2427323C>A	ENST00000215570.3	-	2	481		c.e2-1		LMNB2_ENST00000475819.1_5'Flank|TIMM13_ENST00000591871.1_Splice_Site	NM_012458.2	NP_036590.1	Q9Y5L4	TIM13_HUMAN	translocase of inner mitochondrial membrane 13 homolog (yeast)						cellular protein metabolic process (GO:0044267)|chaperone-mediated protein transport (GO:0072321)|protein targeting to mitochondrion (GO:0006626)|sensory perception of sound (GO:0007605)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space protein transporter complex (GO:0042719)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)	zinc ion binding (GO:0008270)			endometrium(1)|prostate(1)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGTCATCCTCTGTGGAGACA	0.687																																						ENST00000215570.3																			0				endometrium(1)|prostate(1)	2						c.e2-1		translocase of inner mitochondrial membrane 13 homolog (yeast)							72.0	82.0	79.0					19																	2427323		2203	4300	6503	SO:0001630	splice_region_variant	26517				protein import into mitochondrial inner membrane|sensory perception of sound|transmembrane transport	mitochondrial inner membrane presequence translocase complex|mitochondrial intermembrane space protein transporter complex	protein binding|zinc ion binding	g.chr19:2427323C>A	AF152352	CCDS12089.1	19p13.3	2008-07-04	2001-11-28	2002-03-17		ENSG00000099800			11816	protein-coding gene	gene with protein product		607383	"""translocase of inner mitochondrial membrane 13 (yeast) homolog B"""	TIMM13B		10552927, 17329230	Standard	NM_012458		Approved	Tim13	uc002lvx.1	Q9Y5L4		ENST00000215570.3:c.121-1G>T	19.37:g.2427323C>A						TIMM13_ENST00000591871.1_Splice_Site		NM_012458.2	NP_036590.1	Q9Y5L4	TIM13_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	481	-		Hepatocellular(1079;0.137)						P62206|Q9UHL8|Q9WTL1	Splice_Site	SNP	ENST00000215570.3	37		CCDS12089.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.993091	0.74703	.	.	ENSG00000099800	ENST00000215570	.	.	.	3.38	3.38	0.38709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.6229	0.56614	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TIMM13	2378323	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	6.731000	0.74785	1.886000	0.54624	0.436000	0.28706	.		0.687	TIMM13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451333.1		Intron	12	149	1	0	7.03913e-09	1	8.35896e-09	12	149				
PRDM9	56979	broad.mit.edu	37	5	23527693	23527693	+	Silent	SNP	T	T	C			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr5:23527693T>C	ENST00000296682.3	+	11	2678	c.2496T>C	c.(2494-2496)taT>taC	p.Y832Y		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	832					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)	p.Y832Y(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AGAAGCCCTATGTCTGCAGGG	0.587										HNSCC(3;0.000094)																												ENST00000296682.3																			1	Substitution - coding silent(1)	p.Y832Y(1)	endometrium(1)	NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						c.(2494-2496)taT>taC		PR domain containing 9							48.0	60.0	56.0					5																	23527693		2166	4285	6451	SO:0001819	synonymous_variant	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23527693T>C	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.2496T>C	5.37:g.23527693T>C		HNSCC(3;0.000094)					p.Y832Y	NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN			11	2678	+			832					B4DX22|Q27Q50	Silent	SNP	ENST00000296682.3	37	c.2496T>C	CCDS43307.1																																																																																				0.587	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		4	107	0	0	0	1	0	4	107				
OR5M3	219482	broad.mit.edu	37	11	56237781	56237781	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr11:56237781A>G	ENST00000312240.2	-	1	233	c.193T>C	c.(193-195)Tca>Cca	p.S65P		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	65						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					TCAACAAATGACAAGTGACTG	0.393																																						ENST00000312240.2																			0				NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37						c.(193-195)Tca>Cca		olfactory receptor, family 5, subfamily M, member 3							117.0	104.0	108.0					11																	56237781		2201	4296	6497	SO:0001583	missense	219482				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56237781A>G	AB065746	CCDS31532.1	11q11	2012-08-09			ENSG00000174937	ENSG00000174937		"""GPCR / Class A : Olfactory receptors"""	14806	protein-coding gene	gene with protein product							Standard	NM_001004742		Approved		uc010rjk.2	Q8NGP4	OTTHUMG00000166875	ENST00000312240.2:c.193T>C	11.37:g.56237781A>G	ENSP00000312208:p.Ser65Pro						p.S65P	NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN			1	233	-	Esophageal squamous(21;0.00448)		65					B2RNM7|Q6IEW4|Q96RC0	Missense_Mutation	SNP	ENST00000312240.2	37	c.193T>C	CCDS31532.1	.	.	.	.	.	.	.	.	.	.	A	14.07	2.426729	0.43020	.	.	ENSG00000174937	ENST00000312240	T	0.12255	2.7	5.13	3.98	0.46160	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35555	N	0.003140	T	0.49133	0.1539	H	0.96720	3.87	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.55244	-0.8171	10	0.72032	D	0.01	-8.353	10.6393	0.45584	0.6946:0.3053:0.0:0.0	.	65	Q8NGP4	OR5M3_HUMAN	P	65	ENSP00000312208:S65P	ENSP00000312208:S65P	S	-	1	0	OR5M3	55994357	0.001000	0.12720	0.019000	0.16419	0.818000	0.46254	-0.028000	0.12350	0.769000	0.33313	0.391000	0.25812	TCA		0.393	OR5M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391639.1	NM_001004742		4	139	0	0	0	1	0	4	139				
STRC	161497	broad.mit.edu	37	15	43892822	43892822	+	Missense_Mutation	SNP	C	C	A	rs2915791		TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr15:43892822C>A	ENST00000450892.2	-	26	4980	c.4903G>T	c.(4903-4905)Gtt>Ttt	p.V1635F	STRC_ENST00000541030.1_Missense_Mutation_p.V862F|RNU6-554P_ENST00000410466.1_RNA	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin	1635					auditory receptor cell stereocilium organization (GO:0060088)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	kinocilium (GO:0060091)|stereocilium bundle tip (GO:0032426)				skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		TGGGCCAGAACCTCCAGTTGT	0.542																																						ENST00000450892.2																			0				skin(4)	4						c.(4903-4905)Gtt>Ttt		stereocilin		C	PHE/VAL	1,4399	2.1+/-5.4	0,1,2199	60.0	62.0	61.0		4903	3.8	1.0	15	dbSNP_101	61	2,8592	1.2+/-3.3	0,2,4295	no	missense	STRC	NM_153700.2	50	0,3,6494	AA,AC,CC		0.0233,0.0227,0.0231	benign	1635/1776	43892822	3,12991	2200	4297	6497	SO:0001583	missense	161497				sensory perception of sound	cell surface		g.chr15:43892822C>A	BK000138	CCDS10098.1	15q15.3	2010-02-26			ENSG00000242866	ENSG00000242866			16035	protein-coding gene	gene with protein product		606440		DFNB16		11687802, 9429146	Standard	NM_153700		Approved		uc001zsf.3	Q7RTU9	OTTHUMG00000059899	ENST00000450892.2:c.4903G>T	15.37:g.43892822C>A	ENSP00000401513:p.Val1635Phe					STRC_ENST00000541030.1_Missense_Mutation_p.V862F	p.V1635F	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN		GBM - Glioblastoma multiforme(94;3.56e-07)	26	4980	-		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	1635						Missense_Mutation	SNP	ENST00000450892.2	37	c.4903G>T	CCDS10098.1	.	.	.	.	.	.	.	.	.	.	c	12.59	1.984055	0.35036	2.27E-4	2.33E-4	ENSG00000242866	ENST00000450892;ENST00000299992;ENST00000541030	T;T	0.76839	-1.05;-1.05	4.75	3.83	0.44106	.	0.836584	0.10060	N	0.721024	T	0.81226	0.4778	.	.	.	0.35600	D	0.807751	D;P	0.58268	0.982;0.573	P;B	0.55615	0.78;0.165	T	0.78700	-0.2102	9	0.34782	T	0.22	-2.2408	9.0452	0.36343	0.0:0.8996:0.0:0.1004	rs2915791;rs2927069;rs2915791	862;1635	F5GXA4;Q7RTU9	.;STRC_HUMAN	F	1635;1635;862	ENSP00000401513:V1635F;ENSP00000440413:V862F	ENSP00000299992:V1635F	V	-	1	0	STRC	41680114	0.995000	0.38212	1.000000	0.80357	0.915000	0.54546	1.310000	0.33551	1.369000	0.46134	0.313000	0.20887	GTT		0.542	STRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133140.1	NM_153700		4	36	1	0	0.00116845	1	0.00123336	4	36				
EDIL3	10085	broad.mit.edu	37	5	83402534	83402534	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr5:83402534C>T	ENST00000296591.5	-	6	1002	c.584G>A	c.(583-585)cGt>cAt	p.R195H	EDIL3_ENST00000380138.3_Missense_Mutation_p.R185H	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	195	F5/8 type C 1. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		CTTATTAAGACGTGCATAGTA	0.433																																						ENST00000296591.5																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31						c.(583-585)cGt>cAt		EGF-like repeats and discoidin I-like domains 3							185.0	182.0	183.0					5																	83402534		2203	4300	6503	SO:0001583	missense	10085				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding	g.chr5:83402534C>T	U70312	CCDS4062.1, CCDS64195.1	5q14	2008-02-05			ENSG00000164176	ENSG00000164176			3173	protein-coding gene	gene with protein product		606018				9420328	Standard	NM_005711		Approved	DEL1	uc003kio.1	O43854	OTTHUMG00000119047	ENST00000296591.5:c.584G>A	5.37:g.83402534C>T	ENSP00000296591:p.Arg195His					EDIL3_ENST00000380138.3_Missense_Mutation_p.R185H	p.R195H	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)	6	1002	-		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)	195			F5/8 type C 1.		B2R763|O43855|Q5D094|Q8N610	Missense_Mutation	SNP	ENST00000296591.5	37	c.584G>A	CCDS4062.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.939120	0.92526	.	.	ENSG00000164176	ENST00000296591;ENST00000380138	D;D	0.98531	-4.98;-4.98	5.55	4.67	0.58626	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.116075	0.64402	D	0.000010	D	0.99336	0.9767	H	0.96805	3.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	D	0.98503	1.0615	10	0.87932	D	0	-19.5171	16.2994	0.82801	0.0:0.8673:0.1327:0.0	.	185;195	O43854-2;O43854	.;EDIL3_HUMAN	H	195;185	ENSP00000296591:R195H;ENSP00000369483:R185H	ENSP00000296591:R195H	R	-	2	0	EDIL3	83438290	1.000000	0.71417	0.414000	0.26521	0.993000	0.82548	7.277000	0.78572	1.327000	0.45338	0.650000	0.86243	CGT		0.433	EDIL3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239258.1	NM_005711		5	169	0	0	0	1	0	5	169				
ICAM4	3386	broad.mit.edu	37	19	10398384	10398384	+	Silent	SNP	C	C	T			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr19:10398384C>T	ENST00000380770.3	+	2	613	c.567C>T	c.(565-567)gcC>gcT	p.A189A	ICAM5_ENST00000221980.4_5'Flank|ICAM4_ENST00000393717.2_Silent_p.A189A|ICAM4_ENST00000340992.4_Nonsense_Mutation_p.Q164*|CTD-2369P2.8_ENST00000589379.1_RNA|CTD-2369P2.5_ENST00000592893.1_RNA	NM_001544.4	NP_001535.1	Q14773	ICAM4_HUMAN	intercellular adhesion molecule 4 (Landsteiner-Wiener blood group)	189	Ig-like C2-type 2.				extracellular matrix organization (GO:0030198)|regulation of immune response (GO:0050776)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)			breast(1)|large_intestine(3)|lung(2)|pancreas(1)	7			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			TGGATCTGGCCAACGTGACCT	0.637																																						ENST00000340992.4																			0				breast(1)|large_intestine(3)|lung(2)|pancreas(1)	7						c.(490-492)Caa>Taa		intercellular adhesion molecule 4 (Landsteiner-Wiener blood group)							78.0	65.0	70.0					19																	10398384		2203	4300	6503	SO:0001819	synonymous_variant	3386				cell-cell adhesion|regulation of immune response	extracellular region|integral to membrane|plasma membrane	integrin binding	g.chr19:10398384C>T	X93093	CCDS12232.1, CCDS32904.1, CCDS42500.1	19p13.2	2014-07-19	2006-02-23		ENSG00000105371	ENSG00000105371		"""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5347	protein-coding gene	gene with protein product		614088	"""intercellular adhesion molecule 4, Landsteiner-Wiener blood group"", ""Landsteiner-Wiener blood group"", ""intercellular adhesion molecule 4 (LW blood group)"""	LW		8639917, 6431896	Standard	NM_001039132		Approved	CD242	uc002mnr.2	Q14773	OTTHUMG00000180405	ENST00000380770.3:c.567C>T	19.37:g.10398384C>T						ICAM4_ENST00000380770.3_Silent_p.A189A|CTD-2369P2.8_ENST00000589379.1_RNA|ICAM4_ENST00000393717.2_Silent_p.A189A	p.Q164*	NM_001039132.2	NP_001034221.1	Q14773	ICAM4_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)		2	529	+			0			Ig-like C2-type 2.		A0M8X2|Q14771|Q14772|Q16375|Q9BWR0	Nonsense_Mutation	SNP	ENST00000380770.3	37	c.490C>T	CCDS12232.1	.	.	.	.	.	.	.	.	.	.	C	16.40	3.111359	0.56398	.	.	ENSG00000105371	ENST00000340992	.	.	.	4.53	2.35	0.29111	.	1.527110	0.04436	U	0.370013	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-2.8953	5.6825	0.17784	0.0:0.6859:0.2002:0.1139	.	.	.	.	X	164	.	ENSP00000342114:Q164X	Q	+	1	0	ICAM4	10259384	1.000000	0.71417	0.993000	0.49108	0.126000	0.20510	1.406000	0.34646	0.332000	0.23536	0.462000	0.41574	CAA		0.637	ICAM4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000451214.1	NM_001544		4	52	0	0	0	1	0	4	52				
RNF214	257160	broad.mit.edu	37	11	117117567	117117567	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr11:117117567G>T	ENST00000531452.1	+	6	908	c.862G>T	c.(862-864)Gaa>Taa	p.E288*	RNF214_ENST00000300650.4_Nonsense_Mutation_p.E288*|RNF214_ENST00000530849.1_Nonsense_Mutation_p.E133*|RNF214_ENST00000531287.1_Nonsense_Mutation_p.E133*	NM_001077239.1|NM_001278249.1	NP_001070707.1|NP_001265178.1	Q8ND24	RN214_HUMAN	ring finger protein 214	288							zinc ion binding (GO:0008270)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		AAAGCGGGAAGAAACAAAGAA	0.373																																						ENST00000530849.1																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(397-399)Gaa>Taa		ring finger protein 214							199.0	199.0	199.0					11																	117117567		1850	4094	5944	SO:0001587	stop_gained	257160						zinc ion binding	g.chr11:117117567G>T	AL834448	CCDS41720.1, CCDS60976.1	11q23.3	2014-02-12	2007-02-16		ENSG00000167257	ENSG00000167257		"""RING-type (C3HC4) zinc fingers"""	25335	protein-coding gene	gene with protein product							Standard	NM_001077239		Approved	DKFZp547C195	uc001pqt.4	Q8ND24	OTTHUMG00000167069	ENST00000531452.1:c.862G>T	11.37:g.117117567G>T	ENSP00000431643:p.Glu288*					RNF214_ENST00000300650.4_Nonsense_Mutation_p.E288*|RNF214_ENST00000531452.1_Nonsense_Mutation_p.E288*|RNF214_ENST00000531287.1_Nonsense_Mutation_p.E133*	p.E133*			Q8ND24	RN214_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)	5	407	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	288					B2RUW0|B4DTD1	Nonsense_Mutation	SNP	ENST00000531452.1	37	c.397G>T	CCDS41720.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.043532	0.93685	.	.	ENSG00000167257	ENST00000531287;ENST00000531452;ENST00000530849;ENST00000300650	.	.	.	6.02	6.02	0.97574	.	0.061492	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.8672	19.5289	0.95219	0.0:0.0:1.0:0.0	.	.	.	.	X	133;288;133;288	.	.	E	+	1	0	RNF214	116622777	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.537000	0.73847	2.865000	0.98341	0.655000	0.94253	GAA		0.373	RNF214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392884.1	NM_001077239		4	181	1	0	0.00024832	1	0.000267061	4	181				
CIB1	10519	broad.mit.edu	37	15	90774720	90774720	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr15:90774720C>T	ENST00000328649.6	-	4	376	c.215G>A	c.(214-216)cGa>cAa	p.R72Q	GDPGP1_ENST00000558017.1_5'Flank	NM_006384.3	NP_006375.2	Q99828	CIB1_HUMAN	calcium and integrin binding 1 (calmyrin)	72					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell division (GO:0051301)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to growth factor stimulus (GO:0071363)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to tumor necrosis factor (GO:0071356)|cytoplasmic microtubule organization (GO:0031122)|double-strand break repair (GO:0006302)|endomitotic cell cycle (GO:0007113)|extrinsic apoptotic signaling pathway (GO:0097191)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of megakaryocyte differentiation (GO:0045653)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|platelet formation (GO:0030220)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of male germ cell proliferation (GO:2000256)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of cell division (GO:0051302)|regulation of cell proliferation (GO:0042127)|response to ischemia (GO:0002931)|spermatid development (GO:0007286)|thrombopoietin-mediated signaling pathway (GO:0038163)	cell periphery (GO:0071944)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|protein anchor (GO:0043495)|Ras GTPase binding (GO:0017016)			lung(1)|prostate(1)	2	Melanoma(11;0.00551)|Lung NSC(78;0.0141)|all_lung(78;0.0303)		BRCA - Breast invasive adenocarcinoma(143;0.00269)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			CCTGCAGATTCGCTCCTTGAA	0.547																																						ENST00000328649.6																			0				lung(1)|prostate(1)	2						c.(214-216)cGa>cAa		calcium and integrin binding 1 (calmyrin)							103.0	88.0	93.0					15																	90774720		2199	4298	6497	SO:0001583	missense	10519				apoptosis|cell adhesion|double-strand break repair	apical plasma membrane|endoplasmic reticulum|filopodium|nucleoplasm	calcium ion binding|protein binding	g.chr15:90774720C>T	U82226	CCDS10360.1, CCDS73781.1	15q25.3-q26	2013-01-10			ENSG00000185043	ENSG00000185043		"""EF-hand domain containing"""	16920	protein-coding gene	gene with protein product		602293				9030514, 10826701	Standard	NM_006384		Approved	SIP2-28, CALMYRIN, CIB, KIP	uc031qtq.1	Q99828	OTTHUMG00000149808	ENST00000328649.6:c.215G>A	15.37:g.90774720C>T	ENSP00000333873:p.Arg72Gln						p.R72Q	NM_006384.3	NP_006375.2	Q99828	CIB1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.00269)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)		4	376	-	Melanoma(11;0.00551)|Lung NSC(78;0.0141)|all_lung(78;0.0303)		72					B5BU40|H6WJF3|O00693|O00735|Q6IB49|Q96J54|Q99971	Missense_Mutation	SNP	ENST00000328649.6	37	c.215G>A	CCDS10360.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.894968	0.91962	.	.	ENSG00000185043	ENST00000328649	T	0.10382	2.88	4.63	4.63	0.57726	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.38532	0.1044	M	0.90425	3.115	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.40887	-0.9539	10	0.72032	D	0.01	-7.1476	12.1535	0.54064	0.0:0.9141:0.0:0.0859	.	72	Q99828	CIB1_HUMAN	Q	72	ENSP00000333873:R72Q	ENSP00000333873:R72Q	R	-	2	0	CIB1	88575724	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	5.427000	0.66483	2.396000	0.81511	0.563000	0.77884	CGA		0.547	CIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313419.1			12	22	0	0	0	1	0	12	22				
ADAMTS20	80070	broad.mit.edu	37	12	43819391	43819391	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr12:43819391G>T	ENST00000389420.3	-	28	4209	c.4210C>A	c.(4210-4212)Cca>Aca	p.P1404T	ADAMTS20_ENST00000395541.2_Missense_Mutation_p.P522T|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.P1404T	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1404	TSP type-1 10. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ACGCTAGGTGGCTTGTTTACA	0.403																																						ENST00000389420.3																			0				breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(4210-4212)Cca>Aca		ADAM metallopeptidase with thrombospondin type 1 motif, 20							205.0	159.0	175.0					12																	43819391		2203	4300	6503	SO:0001583	missense	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43819391G>T	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.4210C>A	12.37:g.43819391G>T	ENSP00000374071:p.Pro1404Thr					ADAMTS20_ENST00000395541.2_Missense_Mutation_p.P522T|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.P1404T	p.P1404T	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	28	4209	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	1404			TSP type-1 10.		A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	c.4210C>A	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	G	22.0	4.233557	0.79688	.	.	ENSG00000173157	ENST00000389420;ENST00000549670;ENST00000395541;ENST00000553158;ENST00000389417	T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03	4.71	4.71	0.59529	.	0.127995	0.35235	N	0.003345	D	0.86957	0.6058	H	0.97732	4.065	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91803	0.5453	10	0.87932	D	0	.	18.5834	0.91180	0.0:0.0:1.0:0.0	.	1404;522	P59510;E9PBD5	ATS20_HUMAN;.	T	1404;534;522;1404;1404	ENSP00000374071:P1404T;ENSP00000447427:P534T;ENSP00000378911:P522T;ENSP00000448341:P1404T	ENSP00000374068:P1404T	P	-	1	0	ADAMTS20	42105658	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	9.174000	0.94824	2.546000	0.85860	0.650000	0.86243	CCA		0.403	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		6	21	1	0	0.0215528	1	0.0219376	6	21				
PHC2	1912	broad.mit.edu	37	1	33797885	33797885	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr1:33797885A>C	ENST00000257118.5	-	10	1932	c.1879T>G	c.(1879-1881)Tat>Gat	p.Y627D	PHC2_ENST00000485928.1_5'UTR|MIR3605_ENST00000583214.1_RNA|PHC2_ENST00000373418.3_Missense_Mutation_p.Y92D|PHC2_ENST00000373416.1_Missense_Mutation_p.Y92D|PHC2_ENST00000373422.3_Missense_Mutation_p.Y233D|PHC2_ENST00000431992.1_Missense_Mutation_p.Y598D|PHC2_ENST00000419414.2_Missense_Mutation_p.Y628D	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	627					multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CCTTGCAGATAGGGCTCCTCC	0.567																																						ENST00000257118.5																			0				autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(1879-1881)Tat>Gat		polyhomeotic homolog 2 (Drosophila)							170.0	144.0	152.0					1																	33797885		2203	4300	6503	SO:0001583	missense	1912				multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding	g.chr1:33797885A>C	AJ419231	CCDS378.1, CCDS379.1	1p34.3	2013-01-10	2006-09-12	2002-11-15	ENSG00000134686	ENSG00000134686		"""Sterile alpha motif (SAM) domain containing"""	3183	protein-coding gene	gene with protein product		602979	"""early development regulator 2 (homolog of polyhomeotic 2)"", ""polyhomeotic-like 2 (Drosophila)"""	EDR2		9121482, 12384788	Standard	NM_198040		Approved	HPH2	uc001bxg.1	Q8IXK0	OTTHUMG00000004133	ENST00000257118.5:c.1879T>G	1.37:g.33797885A>C	ENSP00000257118:p.Tyr627Asp					PHC2_ENST00000431992.1_Missense_Mutation_p.Y598D|PHC2_ENST00000373422.3_Missense_Mutation_p.Y233D|PHC2_ENST00000485928.1_5'UTR|PHC2_ENST00000373418.3_Missense_Mutation_p.Y92D|PHC2_ENST00000419414.2_Missense_Mutation_p.Y628D|PHC2_ENST00000373416.1_Missense_Mutation_p.Y92D	p.Y627D	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN			10	1932	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	627					A1L4Q1|A8KA40|D3DPR2|Q2TAL3|Q5T0C1|Q6NUJ6|Q6ZQR1|Q8N306|Q8TAG8|Q96BL4|Q9Y4Y7	Missense_Mutation	SNP	ENST00000257118.5	37	c.1879T>G	CCDS378.1	.	.	.	.	.	.	.	.	.	.	A	18.35	3.604947	0.66445	.	.	ENSG00000134686	ENST00000431992;ENST00000257118;ENST00000373422;ENST00000373418;ENST00000307890;ENST00000419414;ENST00000373416	T;T;T;T	0.44881	1.92;1.5;0.91;1.91	6.17	6.17	0.99709	.	0.695069	0.15258	N	0.271927	T	0.45438	0.1342	N	0.16368	0.405	0.35457	D	0.796221	D;D;D;D	0.67145	0.994;0.994;0.994;0.996	P;P;P;P	0.62184	0.795;0.795;0.795;0.899	T	0.51268	-0.8727	10	0.33141	T	0.24	-9.8153	13.214	0.59844	1.0:0.0:0.0:0.0	.	628;599;627;42	A8KA40;B7ZLY0;Q8IXK0;Q8IXK0-3	.;.;PHC2_HUMAN;.	D	598;627;233;92;205;628;92	ENSP00000389436:Y598D;ENSP00000257118:Y627D;ENSP00000362521:Y233D;ENSP00000391440:Y628D	ENSP00000257118:Y627D	Y	-	1	0	PHC2	33570472	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.128000	0.50492	2.371000	0.80710	0.533000	0.62120	TAT		0.567	PHC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000011895.1	NM_198040		4	95	0	0	0	1	0	4	95				
KRTAP4-11	653240	broad.mit.edu	37	17	39274291	39274291	+	Missense_Mutation	SNP	T	T	C	rs200214744|rs565505867	byFrequency	TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr17:39274291T>C	ENST00000391413.2	-	1	315	c.277A>G	c.(277-279)Atg>Gtg	p.M93V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	93	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)		p.M93V(4)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			TGGCAGCACATAGACTGGCAG	0.662																																						ENST00000391413.2																			4	Substitution - Missense(4)	p.M93V(4)	endometrium(3)|kidney(1)	endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(277-279)Atg>Gtg		keratin associated protein 4-11							6.0	10.0	8.0					17																	39274291		651	1556	2207	SO:0001583	missense	653240					keratin filament		g.chr17:39274291T>C	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.277A>G	17.37:g.39274291T>C	ENSP00000375232:p.Met93Val						p.M93V	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	315	-		Breast(137;0.000496)	93			27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.277A>G	CCDS45675.1	.	.	.	.	.	.	.	.	.	.	.	0.073	-1.199029	0.01581	.	.	ENSG00000212721	ENST00000391413	T	0.00580	6.43	4.25	-4.9	0.03094	.	.	.	.	.	T	0.00109	0.0003	N	0.00040	-2.49	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43097	-0.9412	9	0.02654	T	1	.	0.4739	0.00536	0.3479:0.2455:0.1203:0.2863	.	93	Q9BYQ6	KR411_HUMAN	V	93	ENSP00000375232:M93V	ENSP00000375232:M93V	M	-	1	0	KRTAP4-11	36527817	.	.	0.012000	0.15200	0.010000	0.07245	.	.	-1.319000	0.02286	-1.132000	0.01976	ATG		0.662	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			4	37	0	0	0	1	0	4	37				
PCDHB8	56128	broad.mit.edu	37	5	140559000	140559000	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr5:140559000G>A	ENST00000239444.2	+	1	1630	c.1385G>A	c.(1384-1386)cGc>cAc	p.R462H	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	462	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R462P(1)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGTTCGTCCGCGAGAACAAC	0.627																																						ENST00000239444.2																			1	Substitution - Missense(1)	p.R462P(1)	lung(1)	NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83						c.(1384-1386)cGc>cAc									101.0	145.0	130.0					5																	140559000		2203	4297	6500	SO:0001583	missense	0				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140559000G>A	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"""Cadherins / Protocadherins : Clustered"""	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.1385G>A	5.37:g.140559000G>A	ENSP00000239444:p.Arg462His						p.R462H	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1630	+			462			Cadherin 5.		B9EGV1	Missense_Mutation	SNP	ENST00000239444.2	37	c.1385G>A	CCDS4250.1	.	.	.	.	.	.	.	.	.	.	G	9.134	1.012079	0.19277	.	.	ENSG00000120322	ENST00000239444	T	0.01767	4.65	4.26	-0.0626	0.13780	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.01730	0.0055	L	0.45581	1.43	0.09310	N	1	B	0.28258	0.205	B	0.26969	0.075	T	0.46303	-0.9201	9	0.37606	T	0.19	.	1.8958	0.03257	0.2297:0.25:0.3933:0.127	.	462	Q9UN66	PCDB8_HUMAN	H	462	ENSP00000239444:R462H	ENSP00000239444:R462H	R	+	2	0	PCDHB8	140539184	0.000000	0.05858	0.705000	0.30386	0.561000	0.35649	-4.039000	0.00308	0.246000	0.21394	0.305000	0.20034	CGC		0.627	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120		21	325	0	0	0	1	0	21	325				
RYR1	6261	broad.mit.edu	37	19	39075636	39075636	+	Silent	SNP	C	C	T			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr19:39075636C>T	ENST00000359596.3	+	102	14700	c.14700C>T	c.(14698-14700)gaC>gaT	p.D4900D	RYR1_ENST00000360985.3_Silent_p.D4895D|RYR1_ENST00000355481.4_Silent_p.D4895D			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4900					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GCATTGGGGACGAGATCGAGG	0.557																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(14683-14685)gaC>gaT		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						224.0	179.0	195.0					19																	39075636		2203	4300	6503	SO:0001819	synonymous_variant	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:39075636C>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.14700C>T	19.37:g.39075636C>T						RYR1_ENST00000360985.3_Silent_p.D4895D|RYR1_ENST00000359596.3_Silent_p.D4900D	p.D4895D	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		101	14816	+	all_cancers(60;7.91e-06)		4900					Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	c.14685C>T	CCDS33011.1																																																																																				0.557	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			9	42	0	0	0	1	0	9	42				
PCDH19	57526	broad.mit.edu	37	X	99662943	99662943	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chrX:99662943C>T	ENST00000373034.4	-	1	2328	c.653G>A	c.(652-654)cGc>cAc	p.R218H	PCDH19_ENST00000420881.2_Missense_Mutation_p.R218H|PCDH19_ENST00000255531.7_Missense_Mutation_p.R218H	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	218	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GGTGCCCAGGCGCGGCGGGTC	0.607																																						ENST00000373034.4																			0				breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						c.(652-654)cGc>cAc		protocadherin 19							75.0	80.0	78.0					X																	99662943		2167	4246	6413	SO:0001583	missense	57526				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrX:99662943C>T	AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"""Cadherins / Protocadherins : Non-clustered"""	14270	protein-coding gene	gene with protein product		300460	"""epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"""	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.653G>A	X.37:g.99662943C>T	ENSP00000362125:p.Arg218His					PCDH19_ENST00000420881.2_Missense_Mutation_p.R218H|PCDH19_ENST00000255531.7_Missense_Mutation_p.R218H	p.R218H	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN			1	2328	-			218			Cadherin 2.		B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Missense_Mutation	SNP	ENST00000373034.4	37	c.653G>A	CCDS55462.1	.	.	.	.	.	.	.	.	.	.	C	9.433	1.086168	0.20390	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	T;T;T	0.55052	0.54;0.54;0.54	5.98	3.67	0.42095	Cadherin (4);Cadherin-like (1);	0.247414	0.47852	N	0.000208	T	0.66665	0.2812	M	0.78285	2.405	0.09310	N	0.999993	B;D;D	0.60160	0.001;0.984;0.987	B;P;D	0.63283	0.002;0.859;0.913	T	0.58126	-0.7691	10	0.49607	T	0.09	.	8.7514	0.34618	0.0:0.2182:0.0:0.7818	.	218;218;218	Q8TAB3;Q8TAB3-2;E9PAM6	PCD19_HUMAN;.;.	H	218	ENSP00000400327:R218H;ENSP00000362125:R218H;ENSP00000255531:R218H	ENSP00000255531:R218H	R	-	2	0	PCDH19	99549599	0.863000	0.29885	0.079000	0.20413	0.182000	0.23217	1.147000	0.31602	0.871000	0.35750	-0.498000	0.04607	CGC		0.607	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766		24	39	0	0	0	1	0	24	39				
EPHA3	2042	broad.mit.edu	37	3	89468541	89468541	+	Splice_Site	SNP	G	G	T			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr3:89468541G>T	ENST00000336596.2	+	11	2299		c.e11+1		EPHA3_ENST00000494014.1_Splice_Site	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3						cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GTTACCAAAAGTAAGTAAAGT	0.398										TSP Lung(6;0.00050)																												ENST00000336596.2																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139						c.e11+1		EPH receptor A3							89.0	84.0	86.0					3																	89468541		2203	4297	6500	SO:0001630	splice_region_variant	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89468541G>T	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.2074+1G>T	3.37:g.89468541G>T		TSP Lung(6;0.00050)				EPHA3_ENST00000494014.1_Splice_Site		NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	11	2299	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)						Q9H2V3|Q9H2V4	Splice_Site	SNP	ENST00000336596.2	37		CCDS2922.1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.847459	0.51164	.	.	ENSG00000044524	ENST00000336596;ENST00000494014	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8493	0.96733	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EPHA3	89551231	1.000000	0.71417	1.000000	0.80357	0.128000	0.20619	9.869000	0.99810	2.701000	0.92244	0.563000	0.77884	.		0.398	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233	Intron	22	48	1	0	1.28384e-07	1	1.43488e-07	22	48				
SPHKAP	80309	broad.mit.edu	37	2	228883536	228883536	+	Silent	SNP	A	A	G			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr2:228883536A>G	ENST00000392056.3	-	7	2080	c.2034T>C	c.(2032-2034)caT>caC	p.H678H	SPHKAP_ENST00000344657.5_Silent_p.H678H	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	678						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CATCAATGGAATGCCTCAGGA	0.418																																						ENST00000392056.3																			0				NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185						c.(2032-2034)caT>caC		SPHK1 interactor, AKAP domain containing							256.0	234.0	242.0					2																	228883536		2203	4300	6503	SO:0001819	synonymous_variant	80309					cytoplasm	protein binding	g.chr2:228883536A>G		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.2034T>C	2.37:g.228883536A>G						SPHKAP_ENST00000344657.5_Silent_p.H678H	p.H678H	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	2080	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	678					Q68DA3|Q68DR8|Q9C0I5	Silent	SNP	ENST00000392056.3	37	c.2034T>C	CCDS46537.1																																																																																				0.418	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		103	173	0	0	0	1	0	103	173				
OR5D18	219438	broad.mit.edu	37	11	55587532	55587532	+	Missense_Mutation	SNP	G	G	A	rs577643505		TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr11:55587532G>A	ENST00000333976.4	+	1	447	c.427G>A	c.(427-429)Gtg>Atg	p.V143M		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	143						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				GAAACTCTGCGTGCTGCTGGT	0.468													N|||	1	0.000199681	0.0	0.0	5008	,	,		17858	0.001		0.0	False		,,,				2504	0.0					ENST00000333976.4																			0				NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(427-429)Gtg>Atg		olfactory receptor, family 5, subfamily D, member 18							183.0	173.0	176.0					11																	55587532		2200	4296	6496	SO:0001583	missense	219438				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55587532G>A	AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"""GPCR / Class A : Olfactory receptors"""	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.427G>A	11.37:g.55587532G>A	ENSP00000335025:p.Val143Met						p.V143M	NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN			1	447	+		all_epithelial(135;0.208)	143					Q6IF67|Q6IFD3|Q96RB3	Missense_Mutation	SNP	ENST00000333976.4	37	c.427G>A	CCDS31510.1	.	.	.	.	.	.	.	.	.	.	.	1.265	-0.614747	0.03663	.	.	ENSG00000186119	ENST00000333976	T	0.38887	1.11	4.66	-2.41	0.06562	GPCR, rhodopsin-like superfamily (1);	1.093960	0.07162	N	0.850821	T	0.24470	0.0593	L	0.32530	0.975	0.09310	N	1	B	0.19073	0.033	B	0.13407	0.009	T	0.23261	-1.0193	10	0.30078	T	0.28	-0.4402	0.4872	0.00558	0.3445:0.1336:0.2897:0.2322	.	143	Q8NGL1	OR5DI_HUMAN	M	143	ENSP00000335025:V143M	ENSP00000335025:V143M	V	+	1	0	OR5D18	55344108	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-5.735000	0.00101	-0.256000	0.09473	-0.289000	0.09944	GTG		0.468	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952		32	124	0	0	0	1	0	32	124				
COL5A3	50509	broad.mit.edu	37	19	10096993	10096993	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr19:10096993T>A	ENST00000264828.3	-	30	2435	c.2350A>T	c.(2350-2352)Aag>Tag	p.K784*		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	784	Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TCATTTACCTTCTCCCCAGCT	0.632																																						ENST00000264828.3																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116						c.(2350-2352)Aag>Tag		collagen, type V, alpha 3							36.0	40.0	39.0					19																	10096993		2202	4299	6501	SO:0001587	stop_gained	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10096993T>A	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.2350A>T	19.37:g.10096993T>A	ENSP00000264828:p.Lys784*						p.K784*	NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		30	2435	-			784			Triple-helical region.		Q9NZQ6	Nonsense_Mutation	SNP	ENST00000264828.3	37	c.2350A>T	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	T	39	7.610517	0.98387	.	.	ENSG00000080573	ENST00000264828	.	.	.	4.49	4.49	0.54785	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.0391	0.53442	0.0:0.0:0.0:1.0	.	.	.	.	X	784	.	ENSP00000264828:K784X	K	-	1	0	COL5A3	9957993	1.000000	0.71417	1.000000	0.80357	0.393000	0.30537	5.444000	0.66587	1.783000	0.52377	0.379000	0.24179	AAG		0.632	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		9	24	0	0	0	1	0	9	24				
SBNO1	55206	broad.mit.edu	37	12	123780522	123780522	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr12:123780522G>A	ENST00000602398.1	-	32	4242	c.4115C>T	c.(4114-4116)gCg>gTg	p.A1372V	SBNO1_ENST00000602750.1_Missense_Mutation_p.A1371V|SBNO1_ENST00000267176.4_Missense_Mutation_p.A1371V|SBNO1_ENST00000420886.2_Missense_Mutation_p.A1372V			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1372					regulation of transcription, DNA-templated (GO:0006355)			p.A1371V(2)		NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CTGTTGGACCGCAAGCTGTTG	0.433																																						ENST00000420886.2																			2	Substitution - Missense(2)	p.A1371V(2)	lung(1)|prostate(1)	NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62						c.(4114-4116)gCg>gTg		strawberry notch homolog 1 (Drosophila)							340.0	303.0	316.0					12																	123780522		2203	4300	6503	SO:0001583	missense	55206						ATP binding|DNA binding|hydrolase activity	g.chr12:123780522G>A	AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"""sno, strawberry notch homolog 1 (Drosophila)"""				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.4115C>T	12.37:g.123780522G>A	ENSP00000473665:p.Ala1372Val					SBNO1_ENST00000602398.1_Missense_Mutation_p.A1372V|SBNO1_ENST00000602750.1_Missense_Mutation_p.A1371V|SBNO1_ENST00000267176.4_Missense_Mutation_p.A1371V	p.A1372V	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	31	4114	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1372					Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Missense_Mutation	SNP	ENST00000602398.1	37	c.4115C>T	CCDS53844.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.622923	0.87460	.	.	ENSG00000139697	ENST00000420886;ENST00000267176	T;T	0.32515	1.45;1.45	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.45236	0.1332	L	0.27053	0.805	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.73708	0.959;0.981	T	0.12785	-1.0534	10	0.33940	T	0.23	-19.465	20.5792	0.99380	0.0:0.0:1.0:0.0	.	1372;1371	A3KN83;A3KN83-2	SBNO1_HUMAN;.	V	1372;1371	ENSP00000387361:A1372V;ENSP00000267176:A1371V	ENSP00000267176:A1371V	A	-	2	0	SBNO1	122346475	1.000000	0.71417	0.790000	0.31976	0.976000	0.68499	9.431000	0.97494	2.873000	0.98535	0.561000	0.74099	GCG		0.433	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183		5	275	0	0	0	1	0	5	275				
GIGYF1	64599	broad.mit.edu	37	7	100281226	100281226	+	Missense_Mutation	SNP	T	T	C	rs553089567		TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr7:100281226T>C	ENST00000275732.5	-	17	3208	c.1999A>G	c.(1999-2001)Att>Gtt	p.I667V	GIGYF1_ENST00000471340.2_5'Flank	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	667					insulin-like growth factor receptor signaling pathway (GO:0048009)					central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GAAGAGTTAATTGGTATGTCC	0.597													T|||	1	0.000199681	0.0008	0.0	5008	,	,		17435	0.0		0.0	False		,,,				2504	0.0					ENST00000275732.5																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1999-2001)Att>Gtt		GRB10 interacting GYF protein 1							138.0	136.0	136.0					7																	100281226		2203	4300	6503	SO:0001583	missense	64599							g.chr7:100281226T>C	AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"""GYF domain containing 1"""	612064	"""PERQ amino acid rich, with GYF domain 1"""	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.1999A>G	7.37:g.100281226T>C	ENSP00000275732:p.Ile667Val						p.I667V	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN			17	3208	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		667					Q6Y7W7|Q8WZ38	Missense_Mutation	SNP	ENST00000275732.5	37	c.1999A>G	CCDS34708.1	.	.	.	.	.	.	.	.	.	.	.	13.00	2.107235	0.37145	.	.	ENSG00000146830	ENST00000539430;ENST00000275732	D	0.83075	-1.68	4.05	4.05	0.47172	.	0.383973	0.25416	N	0.030835	T	0.64125	0.2570	N	0.14661	0.345	0.35855	D	0.827047	B	0.31026	0.304	B	0.27500	0.08	T	0.64175	-0.6469	10	0.21540	T	0.41	-1.0625	6.0228	0.19638	0.0:0.115:0.0:0.885	.	667	O75420	PERQ1_HUMAN	V	386;667	ENSP00000275732:I667V	ENSP00000275732:I667V	I	-	1	0	GIGYF1	100119162	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.655000	0.37345	1.699000	0.51192	0.260000	0.18958	ATT		0.597	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347205.2	NM_022574		10	140	0	0	0	1	0	10	140				
KAT6B	23522	broad.mit.edu	37	10	76729799	76729799	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr10:76729799T>C	ENST00000287239.4	+	6	1357	c.868T>C	c.(868-870)Tcc>Ccc	p.S290P	KAT6B_ENST00000372725.1_Missense_Mutation_p.S290P|KAT6B_ENST00000372711.1_Missense_Mutation_p.S290P|KAT6B_ENST00000372724.1_Missense_Mutation_p.S290P|KAT6B_ENST00000372714.1_Missense_Mutation_p.S290P	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	290					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										TTTTTGTGATTCCTGTGATAG	0.318																																						ENST00000287239.4																			0											c.(868-870)Tcc>Ccc		K(lysine) acetyltransferase 6B							66.0	64.0	65.0					10																	76729799		2203	4300	6503	SO:0001583	missense	23522				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding	g.chr10:76729799T>C	AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	17582	protein-coding gene	gene with protein product	"""MOZ-related factor"""	605880	"""MYST histone acetyltransferase (monocytic leukemia) 4"""	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.868T>C	10.37:g.76729799T>C	ENSP00000287239:p.Ser290Pro					KAT6B_ENST00000372711.1_Missense_Mutation_p.S290P|KAT6B_ENST00000372714.1_Missense_Mutation_p.S290P|KAT6B_ENST00000372724.1_Missense_Mutation_p.S290P|KAT6B_ENST00000372725.1_Missense_Mutation_p.S290P	p.S290P	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN			6	1357	+			290					O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Missense_Mutation	SNP	ENST00000287239.4	37	c.868T>C	CCDS7345.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.156618	0.78114	.	.	ENSG00000156650	ENST00000372725;ENST00000372724;ENST00000287239;ENST00000372714;ENST00000372711	D;D;D;D;D	0.85088	-1.94;-1.94;-1.94;-1.94;-1.94	6.05	6.05	0.98169	.	0.000000	0.49916	D	0.000137	D	0.93161	0.7822	M	0.85299	2.745	0.40205	D	0.977567	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.997;0.999	D	0.94337	0.7567	10	0.87932	D	0	-9.2128	16.5932	0.84781	0.0:0.0:0.0:1.0	.	290;290;290	Q8WYB5-2;Q8WYB5-3;Q8WYB5	.;.;KAT6B_HUMAN	P	290	ENSP00000361810:S290P;ENSP00000361809:S290P;ENSP00000287239:S290P;ENSP00000361799:S290P;ENSP00000361796:S290P	ENSP00000287239:S290P	S	+	1	0	KAT6B	76399805	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.698000	0.84413	2.320000	0.78422	0.528000	0.53228	TCC		0.318	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330		6	43	0	0	0	1	0	6	43				
LRRTM1	347730	broad.mit.edu	37	2	80530262	80530262	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr2:80530262T>C	ENST00000295057.3	-	2	1339	c.683A>G	c.(682-684)cAc>cGc	p.H228R	CTNNA2_ENST00000496558.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.H228R|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000540488.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	228					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						GCGCGGGAAGTGGGCGAAGTT	0.577										HNSCC(69;0.2)																												ENST00000295057.3																			0				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						c.(682-684)cAc>cGc		leucine rich repeat transmembrane neuronal 1							112.0	108.0	109.0					2																	80530262		2203	4300	6503	SO:0001583	missense	347730					axon|endoplasmic reticulum membrane|growth cone|integral to membrane		g.chr2:80530262T>C	AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.683A>G	2.37:g.80530262T>C	ENSP00000295057:p.His228Arg	HNSCC(69;0.2)				LRRTM1_ENST00000409148.1_Missense_Mutation_p.H228R|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000540488.1_Intron	p.H228R	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN			2	1339	-			228					A8K397|D6W5K1|Q96DN1	Missense_Mutation	SNP	ENST00000295057.3	37	c.683A>G	CCDS1966.1	.	.	.	.	.	.	.	.	.	.	T	16.32	3.091478	0.55968	.	.	ENSG00000162951	ENST00000295057;ENST00000409148	T;T	0.79454	-1.27;-1.27	5.26	4.1	0.47936	.	0.000000	0.85682	U	0.000000	D	0.83839	0.5341	L	0.59436	1.845	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.82137	-0.0606	9	.	.	.	.	10.7829	0.46388	0.0:0.0749:0.0:0.9251	.	228	Q86UE6	LRRT1_HUMAN	R	228	ENSP00000295057:H228R;ENSP00000386646:H228R	.	H	-	2	0	LRRTM1	80383773	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.036000	0.88901	0.826000	0.34661	0.533000	0.62120	CAC		0.577	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	NM_178839		39	76	0	0	0	1	0	39	76				
MUC5B	727897	broad.mit.edu	37	11	1271277	1271277	+	Silent	SNP	C	C	G			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr11:1271277C>G	ENST00000529681.1	+	31	13225	c.13167C>G	c.(13165-13167)acC>acG	p.T4389T	MUC5B_ENST00000447027.1_Silent_p.T4392T|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4389	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CGGGGACGACCTGGATCCTCA	0.662																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(13174-13176)acC>acG		mucin 5B, oligomeric mucus/gel-forming							77.0	92.0	87.0					11																	1271277		2043	4185	6228	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1271277C>G	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.13167C>G	11.37:g.1271277C>G						MUC5B_ENST00000529681.1_Silent_p.T4389T	p.T4392T			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	13234	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	4389			23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.13176C>G	CCDS44515.2																																																																																				0.662	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		4	102	0	0	0	1	0	4	102				
CACNA1D	776	broad.mit.edu	37	3	53783437	53783437	+	Missense_Mutation	SNP	G	G	A	rs149170250		TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr3:53783437G>A	ENST00000350061.5	+	27	3968	c.3457G>A	c.(3457-3459)Gtt>Att	p.V1153I	CACNA1D_ENST00000422281.2_Missense_Mutation_p.V1153I|CACNA1D_ENST00000540742.1_Missense_Mutation_p.V60I|CACNA1D_ENST00000288139.4_Missense_Mutation_p.V1173I	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1153	Dihydropyridine binding. {ECO:0000250}.				adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CTTTGTCATCGTTACATTTCA	0.418																																						ENST00000288139.3																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90						c.(3517-3519)Gtt>Att		calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)	G	ILE/VAL,ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	137.0	122.0	127.0		3517,3457,3457	5.9	1.0	3	dbSNP_134	127	0,8600		0,0,4300	no	missense,missense,missense	CACNA1D	NM_000720.2,NM_001128839.1,NM_001128840.1	29,29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	1173/2182,1153/2138,1153/2162	53783437	1,13005	2203	4300	6503	SO:0001583	missense	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53783437G>A	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.3457G>A	3.37:g.53783437G>A	ENSP00000288133:p.Val1153Ile					CACNA1D_ENST00000540742.1_Missense_Mutation_p.V60I|CACNA1D_ENST00000350061.5_Missense_Mutation_p.V1153I|CACNA1D_ENST00000422281.2_Missense_Mutation_p.V1153I	p.V1173I	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	28	3635	+			1153					B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	c.3517G>A	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.145907	0.77888	2.27E-4	0.0	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478;ENST00000540742	D;D;D;D;D	0.97404	-4.37;-4.37;-4.37;-4.37;-4.14	5.93	5.93	0.95920	.	0.000000	0.64402	D	0.000001	D	0.94703	0.8291	N	0.16201	0.385	0.80722	D	1	P;B;P;D;P	0.56287	0.507;0.154;0.869;0.975;0.64	B;B;B;P;B	0.48454	0.089;0.048;0.137;0.578;0.184	D	0.94353	0.7581	10	0.38643	T	0.18	.	19.3421	0.94347	0.0:0.0:1.0:0.0	.	1153;60;846;1153;1173	B0FYA3;F5H313;Q59GD8;Q01668;Q01668-2	.;.;.;CAC1D_HUMAN;.	I	1153;1173;1153;846;60	ENSP00000288133:V1153I;ENSP00000288139:V1173I;ENSP00000409174:V1153I;ENSP00000418014:V846I;ENSP00000438229:V60I	ENSP00000288139:V1173I	V	+	1	0	CACNA1D	53758477	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.789000	0.75110	2.826000	0.97356	0.655000	0.94253	GTT		0.418	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		4	82	0	0	0	1	0	4	82				
PPP2R3A	5523	broad.mit.edu	37	3	135722332	135722332	+	Silent	SNP	C	C	T			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr3:135722332C>T	ENST00000264977.3	+	2	2609	c.1992C>T	c.(1990-1992)atC>atT	p.I664I	PPP2R3A_ENST00000490467.1_Intron	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	664					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein catabolic process (GO:0045732)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|somite development (GO:0061053)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|protein phosphatase type 2A regulator activity (GO:0008601)			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CAGAGGTGATCAAGGTAAGAC	0.353																																						ENST00000264977.3																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1990-1992)atC>atT		protein phosphatase 2, regulatory subunit B'', alpha							56.0	54.0	54.0					3																	135722332		2202	4298	6500	SO:0001819	synonymous_variant	5523				protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity	g.chr3:135722332C>T	L12146	CCDS3087.1, CCDS3088.1, CCDS54642.1	3q22.2-q22.3	2013-01-10	2010-06-18	2002-04-26	ENSG00000073711	ENSG00000073711	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""EF-hand domain containing"""	9307	protein-coding gene	gene with protein product		604944	"""protein phosphatase 2 (formerly 2A), regulatory subunit B'' (PR 72), alpha isoform and (PR 130), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B'', alpha"""	PPP2R3		8392071	Standard	NM_002718		Approved		uc003eqv.2	Q06190	OTTHUMG00000159766	ENST00000264977.3:c.1992C>T	3.37:g.135722332C>T						PPP2R3A_ENST00000490467.1_Intron	p.I664I	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN			2	2609	+			664					A8KAE7|B4DNU1|B7ZAE3|Q06189|Q9NPQ5	Silent	SNP	ENST00000264977.3	37	c.1992C>T	CCDS3087.1																																																																																				0.353	PPP2R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357232.1	NM_002718		18	66	0	0	0	1	0	18	66				
KIAA1211	57482	broad.mit.edu	37	4	57181022	57181022	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr4:57181022G>A	ENST00000504228.1	+	6	1459	c.1354G>A	c.(1354-1356)Gag>Aag	p.E452K	KIAA1211_ENST00000264229.6_Missense_Mutation_p.E452K|KIAA1211_ENST00000541073.1_Missense_Mutation_p.E445K			Q6ZU35	K1211_HUMAN	KIAA1211	452	Glu-rich.									endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					AGGTATTTGCGAGGAGCAGAA	0.592																																						ENST00000504228.1																			0				endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65						c.(1354-1356)Gag>Aag		KIAA1211							28.0	38.0	35.0					4																	57181022		1998	4175	6173	SO:0001583	missense	57482							g.chr4:57181022G>A	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.1354G>A	4.37:g.57181022G>A	ENSP00000423366:p.Glu452Lys					KIAA1211_ENST00000541073.1_Missense_Mutation_p.E445K|KIAA1211_ENST00000264229.6_Missense_Mutation_p.E452K	p.E452K			Q6ZU35	K1211_HUMAN			6	1459	+	Glioma(25;0.08)|all_neural(26;0.101)		452			Glu-rich.		Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP	ENST00000504228.1	37	c.1354G>A	CCDS43230.1	.	.	.	.	.	.	.	.	.	.	G	10.23	1.293813	0.23564	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073;ENST00000546221	T;T;T	0.12465	2.68;2.68;2.68	4.89	-2.07	0.07276	.	.	.	.	.	T	0.07818	0.0196	L	0.27053	0.805	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.31613	-0.9937	9	0.37606	T	0.19	.	3.9128	0.09210	0.2849:0.3554:0.2808:0.0789	.	445;445;452	B7ZVZ4;F5H1N7;Q6ZU35	.;.;K1211_HUMAN	K	452;452;445;362	ENSP00000264229:E452K;ENSP00000423366:E452K;ENSP00000444006:E445K	ENSP00000264229:E452K	E	+	1	0	KIAA1211	56875779	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.030000	0.12308	-1.592000	0.01619	-1.598000	0.00824	GAG		0.592	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		3	14	0	0	0	1	0	3	14				
PEG3	5178	broad.mit.edu	37	19	57327049	57327049	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr19:57327049C>T	ENST00000326441.9	-	10	3124	c.2761G>A	c.(2761-2763)Gaa>Aaa	p.E921K	ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.E921K|PEG3_ENST00000593695.1_Missense_Mutation_p.E795K|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.E797K|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	921					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.E921K(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		ACAGAGAATTCGCCATCCTTC	0.443																																						ENST00000326441.9																			2	Substitution - Missense(2)	p.E921K(2)	skin(2)	NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170						c.(2761-2763)Gaa>Aaa		paternally expressed 3							123.0	120.0	121.0					19																	57327049		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57327049C>T	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.2761G>A	19.37:g.57327049C>T	ENSP00000326581:p.Glu921Lys					ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.E795K|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.E921K|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.E797K|ZIM2_ENST00000593711.1_Intron	p.E921K	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	10	3124	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	921					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.2761G>A	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	C	8.346	0.829793	0.16749	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.02323	4.34;4.34	3.89	-0.09	0.13667	.	0.498279	0.17089	N	0.187473	T	0.01940	0.0061	L	0.59436	1.845	.	.	.	B;P;B	0.39809	0.052;0.689;0.152	B;B;B	0.27608	0.003;0.081;0.021	T	0.37911	-0.9685	9	0.02654	T	1	-3.0575	5.4373	0.16488	0.0:0.5418:0.1755:0.2828	.	797;921;856	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	K	921	ENSP00000326581:E921K;ENSP00000403051:E921K	ENSP00000326581:E921K	E	-	1	0	ZIM2	62018861	0.001000	0.12720	0.000000	0.03702	0.952000	0.60782	1.091000	0.30915	0.048000	0.15891	0.655000	0.94253	GAA		0.443	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			6	111	0	0	0	1	0	6	111				
SHISA2	387914	broad.mit.edu	37	13	26620948	26620948	+	Silent	SNP	C	C	T			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr13:26620948C>T	ENST00000319420.3	-	2	646	c.591G>A	c.(589-591)gcG>gcA	p.A197A		NM_001007538.1	NP_001007539.1	Q6UWI4	SHSA2_HUMAN	shisa family member 2	197					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	17						TTGTTGGGGGCGCCCGGGCCC	0.612																																						ENST00000319420.3																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	17						c.(589-591)gcG>gcA		shisa family member 2							88.0	94.0	92.0					13																	26620948		2203	4300	6503	SO:0001819	synonymous_variant	387914				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane		g.chr13:26620948C>T		CCDS31951.1	13q12.13	2013-07-31	2013-07-31	2008-04-01	ENSG00000180730	ENSG00000180730		"""Shisa homologs"""	20366	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 13"", ""transmembrane protein 46"", ""shisa homolog 2 (Xenopus laevis)"""	C13orf13, TMEM46			Standard	NM_001007538		Approved	bA398O19.2, PRO28631, WGAR9166, hShisa	uc001uqm.1	Q6UWI4	OTTHUMG00000016612	ENST00000319420.3:c.591G>A	13.37:g.26620948C>T							p.A197A	NM_001007538.1	NP_001007539.1	Q6UWI4	SHSA2_HUMAN			2	646	-			197					B9EH70|Q5W0G8	Silent	SNP	ENST00000319420.3	37	c.591G>A	CCDS31951.1																																																																																				0.612	SHISA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044239.2	NM_001007538		7	105	0	0	0	1	0	7	105				
SOCS4	122809	broad.mit.edu	37	14	55509920	55509920	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr14:55509920G>T	ENST00000395472.2	+	2	493	c.161G>T	c.(160-162)gGt>gTt	p.G54V	SOCS4_ENST00000339298.2_Missense_Mutation_p.G54V|SOCS4_ENST00000555846.1_Missense_Mutation_p.G54V	NM_080867.2|NM_199421.1	NP_543143.1|NP_955453.1	Q8WXH5	SOCS4_HUMAN	suppressor of cytokine signaling 4	54					intracellular signal transduction (GO:0035556)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)					central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						ACAGTGAATGGTATAGAGAAA	0.413																																						ENST00000395472.2																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						c.(160-162)gGt>gTt		suppressor of cytokine signaling 4							158.0	148.0	151.0					14																	55509920		2203	4300	6503	SO:0001583	missense	122809				intracellular signal transduction|negative regulation of signal transduction|regulation of growth			g.chr14:55509920G>T	AF424815	CCDS9722.1	14q22.1	2013-02-14	2004-02-25	2004-02-27	ENSG00000180008	ENSG00000180008		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	19392	protein-coding gene	gene with protein product			"""suppressor of cytokine signaling 7"""	SOCS7		12076535, 10500304	Standard	NM_080867		Approved		uc001xbp.3	Q8WXH5	OTTHUMG00000140311	ENST00000395472.2:c.161G>T	14.37:g.55509920G>T	ENSP00000378855:p.Gly54Val					SOCS4_ENST00000555846.1_Missense_Mutation_p.G54V|SOCS4_ENST00000339298.2_Missense_Mutation_p.G54V	p.G54V	NM_080867.2|NM_199421.1	NP_543143.1|NP_955453.1	Q8WXH5	SOCS4_HUMAN			2	493	+			54						Missense_Mutation	SNP	ENST00000395472.2	37	c.161G>T	CCDS9722.1	.	.	.	.	.	.	.	.	.	.	G	0.025	-1.384390	0.01194	.	.	ENSG00000180008	ENST00000395472;ENST00000555846;ENST00000339298	T;T;T	0.32753	1.44;1.44;1.44	5.22	2.46	0.29980	.	1.495460	0.04085	N	0.310331	T	0.14570	0.0352	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21042	-1.0257	10	0.51188	T	0.08	0.0	2.2154	0.03958	0.138:0.5115:0.1381:0.2124	.	54	Q8WXH5	SOCS4_HUMAN	V	54	ENSP00000378855:G54V;ENSP00000452522:G54V;ENSP00000341327:G54V	ENSP00000341327:G54V	G	+	2	0	SOCS4	54579673	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.085000	0.14912	0.378000	0.24764	-0.823000	0.03104	GGT		0.413	SOCS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276910.1			23	68	1	0	3.08376e-08	1	3.51549e-08	23	68				
ITGA8	8516	broad.mit.edu	37	10	15590512	15590512	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr10:15590512C>G	ENST00000378076.3	-	27	3175	c.2822G>C	c.(2821-2823)gGa>gCa	p.G941A		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	941					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GCTTTCTCCTCCTTCGAGTCG	0.473																																						ENST00000378076.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						c.(2821-2823)gGa>gCa		integrin, alpha 8							193.0	157.0	169.0					10																	15590512		2203	4300	6503	SO:0001583	missense	8516				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	g.chr10:15590512C>G	L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.2822G>C	10.37:g.15590512C>G	ENSP00000367316:p.Gly941Ala						p.G941A	NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN			27	3175	-			941					B0YJ31|Q5VX94	Missense_Mutation	SNP	ENST00000378076.3	37	c.2822G>C	CCDS31155.1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.346793	0.61073	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	T	0.43688	0.94	5.71	5.71	0.89125	.	0.267720	0.44483	D	0.000449	T	0.40815	0.1132	L	0.54323	1.7	0.35984	D	0.836255	P;P	0.43287	0.802;0.701	B;B	0.40285	0.325;0.174	T	0.45131	-0.9282	10	0.19590	T	0.45	.	16.7697	0.85534	0.0:1.0:0.0:0.0	.	926;941	F5H818;P53708	.;ITA8_HUMAN	A	941;926	ENSP00000367316:G941A	ENSP00000367316:G941A	G	-	2	0	ITGA8	15630518	1.000000	0.71417	0.922000	0.36590	0.782000	0.44232	3.344000	0.52174	2.707000	0.92482	0.637000	0.83480	GGA		0.473	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638		7	45	0	0	0	1	0	7	45				
ST8SIA6	338596	broad.mit.edu	37	10	17362963	17362963	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr10:17362963G>T	ENST00000377602.4	-	8	1185	c.1111C>A	c.(1111-1113)Cag>Aag	p.Q371K		NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	371					carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|ganglioside biosynthetic process (GO:0001574)|glycolipid biosynthetic process (GO:0009247)|glycoprotein metabolic process (GO:0009100)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked glycosylation (GO:0006493)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	sialyltransferase activity (GO:0008373)			endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						TTGGGCATCTGATGGAAACCA	0.403																																						ENST00000377602.4																			0				endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						c.(1111-1113)Cag>Aag		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6							258.0	242.0	247.0					10																	17362963		2203	4300	6503	SO:0001583	missense	338596				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr10:17362963G>T		CCDS31158.1	10p13	2013-03-01	2005-02-07	2005-02-07	ENSG00000148488	ENSG00000148488		"""Sialyltransferases"""	23317	protein-coding gene	gene with protein product	"""ST8Sia VI"""	610139	"""sialyltransferase 8F (alpha-2, 8-sialyltransferase)"""	SIAT8F		11980897	Standard	XR_242697		Approved		uc001ipd.3	P61647	OTTHUMG00000017748	ENST00000377602.4:c.1111C>A	10.37:g.17362963G>T	ENSP00000366827:p.Gln371Lys						p.Q371K	NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN			8	1185	-			371					B0YJ97|B9EH72|Q5VZH4	Missense_Mutation	SNP	ENST00000377602.4	37	c.1111C>A	CCDS31158.1	.	.	.	.	.	.	.	.	.	.	G	13.87	2.365931	0.41902	.	.	ENSG00000148488	ENST00000377602	T	0.28666	1.6	5.5	3.64	0.41730	.	0.273018	0.41605	N	0.000844	T	0.13841	0.0335	N	0.11789	0.175	0.31074	N	0.712739	B	0.02656	0.0	B	0.06405	0.002	T	0.25222	-1.0138	10	0.06236	T	0.91	-3.5386	9.4845	0.38922	0.0:0.6798:0.2304:0.0898	.	371	P61647	SIA8F_HUMAN	K	371	ENSP00000366827:Q371K	ENSP00000366827:Q371K	Q	-	1	0	ST8SIA6	17402969	1.000000	0.71417	0.989000	0.46669	0.949000	0.60115	2.690000	0.47001	0.866000	0.35629	0.650000	0.86243	CAG		0.403	ST8SIA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047036.1	NM_001004470		10	255	1	0	2.17888e-05	1	2.38838e-05	10	255				
ETV4	2118	broad.mit.edu	37	17	41611270	41611270	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr17:41611270G>A	ENST00000319349.5	-	6	638	c.340C>T	c.(340-342)Ccg>Tcg	p.P114S	ETV4_ENST00000545089.1_Missense_Mutation_p.P114S|ETV4_ENST00000393664.2_Missense_Mutation_p.P114S|ETV4_ENST00000538265.1_Missense_Mutation_p.P75S|ETV4_ENST00000591713.1_Missense_Mutation_p.P114S|ETV4_ENST00000545954.1_Missense_Mutation_p.P75S	NM_001079675.2	NP_001073143.1	P43268	ETV4_HUMAN	ets variant 4	114					branching involved in mammary gland duct morphogenesis (GO:0060444)|cell differentiation (GO:0030154)|motor neuron axon guidance (GO:0008045)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)		EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2)	ovary(2)|upper_aerodigestive_tract(1)	3		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0798)		GGGAGTGGCGGCTTCCTGCTG	0.652			T	"""EWSR1, TMPRSS2, DDX5, KLK2, CANT1"""	"""Ewing sarcoma, Prostate carcinoma"""																																Esophageal Squamous(116;1540 1611 12927 31103 34118)	ENST00000319349.5				Dom	yes		17	17q21	2118	T	"""ets variant gene 4 (E1A enhancer binding protein, E1AF)"""			"""M, E"""	"""EWSR1, TMPRSS2, DDX5, KLK2, CANT1"""		"""Ewing sarcoma, Prostate carcinoma"""	EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2)	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(340-342)Ccg>Tcg		ets variant 4							47.0	49.0	48.0					17																	41611270		2203	4300	6503	SO:0001583	missense	2118				positive regulation of transcription, DNA-dependent	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:41611270G>A	U18018	CCDS11465.1, CCDS58553.1, CCDS59292.1	17q21	2014-04-30	2008-09-12			ENSG00000175832			3493	protein-coding gene	gene with protein product	"""E1A enhancer binding protein"""	600711	"""ets variant gene 4 (E1A enhancer-binding protein, E1AF)"""			8530053, 1547944	Standard	NM_001986		Approved	E1A-F, E1AF, PEA3	uc002idw.3	P43268		ENST00000319349.5:c.340C>T	17.37:g.41611270G>A	ENSP00000321835:p.Pro114Ser					ETV4_ENST00000591713.1_Missense_Mutation_p.P114S|ETV4_ENST00000545954.1_Missense_Mutation_p.P75S|ETV4_ENST00000545089.1_Missense_Mutation_p.P114S|ETV4_ENST00000538265.1_Missense_Mutation_p.P75S|ETV4_ENST00000393664.2_Missense_Mutation_p.P114S	p.P114S	NM_001079675.2	NP_001073143.1	P43268	ETV4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0798)	6	638	-		Breast(137;0.00908)	114					A8K314|B7Z5J3|B7Z9J6|Q96AW9	Missense_Mutation	SNP	ENST00000319349.5	37	c.340C>T	CCDS11465.1	.	.	.	.	.	.	.	.	.	.	G	14.38	2.516741	0.44763	.	.	ENSG00000175832	ENST00000319349;ENST00000393664;ENST00000538265;ENST00000545954;ENST00000545089	T;T;T;T;T	0.21191	2.02;2.02;2.02;2.02;2.02	5.66	4.69	0.59074	PEA3-type ETS-domain transcription factor, N-terminal (1);	0.367561	0.31784	N	0.007066	T	0.17450	0.0419	L	0.36672	1.1	0.34111	D	0.66293	B;B;B	0.25048	0.004;0.08;0.117	B;B;B	0.31686	0.006;0.134;0.112	T	0.13683	-1.0500	10	0.13853	T	0.58	.	12.3196	0.54977	0.0776:0.0:0.9224:0.0	.	114;75;114	B7Z5F4;B7Z5J3;P43268	.;.;ETV4_HUMAN	S	114;114;75;75;114	ENSP00000321835:P114S;ENSP00000377273:P114S;ENSP00000443846:P75S;ENSP00000440023:P75S;ENSP00000441749:P114S	ENSP00000321835:P114S	P	-	1	0	ETV4	38966796	1.000000	0.71417	0.965000	0.40720	0.990000	0.78478	7.303000	0.78871	2.642000	0.89623	0.650000	0.86243	CCG		0.652	ETV4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453489.1	NM_001986		4	22	0	0	0	1	0	4	22				
NUP188	23511	broad.mit.edu	37	9	131765100	131765100	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr9:131765100C>T	ENST00000372577.2	+	37	4163	c.4142C>T	c.(4141-4143)cCt>cTt	p.P1381L	RP11-167N5.5_ENST00000594418.1_lincRNA	NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1381					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						TCTTAGACACCTAGTGCCTCT	0.562																																						ENST00000372577.2																			0				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						c.(4141-4143)cCt>cTt		nucleoporin 188kDa							88.0	82.0	84.0					9																	131765100		2203	4300	6503	SO:0001583	missense	23511				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr9:131765100C>T	D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"""KIAA0169"""	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.4142C>T	9.37:g.131765100C>T	ENSP00000361658:p.Pro1381Leu						p.P1381L	NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN			37	4163	+			1381					Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Missense_Mutation	SNP	ENST00000372577.2	37	c.4142C>T	CCDS35156.1	.	.	.	.	.	.	.	.	.	.	C	9.625	1.134976	0.21123	.	.	ENSG00000095319	ENST00000356693;ENST00000372577	T	0.30714	1.52	5.93	5.93	0.95920	.	0.259471	0.41500	D	0.000879	T	0.27349	0.0671	L	0.40543	1.245	0.34294	D	0.683585	B;B	0.13594	0.001;0.008	B;B	0.16722	0.001;0.016	T	0.24977	-1.0145	10	0.07813	T	0.8	-20.8526	19.3319	0.94293	0.0:1.0:0.0:0.0	.	714;1381	E9PET9;Q5SRE5	.;NU188_HUMAN	L	1270;1381	ENSP00000361658:P1381L	ENSP00000349125:P1270L	P	+	2	0	NUP188	130804921	0.286000	0.24305	0.957000	0.39632	0.288000	0.27193	3.578000	0.53892	2.815000	0.96918	0.561000	0.74099	CCT		0.562	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2			12	45	0	0	0	1	0	12	45				
MUC2	4583	broad.mit.edu	37	11	1087944	1087944	+	Missense_Mutation	SNP	G	G	A	rs369454331		TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr11:1087944G>A	ENST00000441003.2	+	25	3446	c.3419G>A	c.(3418-3420)cGg>cAg	p.R1140Q	MUC2_ENST00000359061.5_Missense_Mutation_p.R1140Q	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1140					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	TGTGGGAACCGGAGCTTCGAG	0.607																																						ENST00000441003.2																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102						c.(3418-3420)cGg>cAg		mucin 2, oligomeric mucus/gel-forming	Pranlukast(DB01411)		GLN/ARG	0,4294		0,0,2147	69.0	75.0	73.0		3419	-4.4	0.0	11		73	1,8505		0,1,4252	no	missense	MUC2	NM_002457.2	43	0,1,6399	AA,AG,GG		0.0118,0.0,0.0078	possibly-damaging	1140/2813	1087944	1,12799	2147	4253	6400	SO:0001583	missense	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1087944G>A	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.3419G>A	11.37:g.1087944G>A	ENSP00000415183:p.Arg1140Gln					MUC2_ENST00000359061.5_Missense_Mutation_p.R1140Q	p.R1140Q	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	25	3446	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	1140					Q14878	Missense_Mutation	SNP	ENST00000441003.2	37	c.3419G>A		.	.	.	.	.	.	.	.	.	.	g	6.544	0.468573	0.12461	0.0	1.18E-4	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.54675	0.56;0.56	3.98	-4.4	0.03600	.	0.608529	0.14186	N	0.335667	T	0.31295	0.0792	L	0.38531	1.155	0.09310	N	1	P	0.40875	0.731	B	0.31869	0.137	T	0.22765	-1.0207	10	0.29301	T	0.29	.	10.3273	0.43801	0.1435:0.5845:0.272:0.0	.	1140	E7EUV1	.	Q	1140	ENSP00000415183:R1140Q;ENSP00000351956:R1140Q	ENSP00000351956:R1140Q	R	+	2	0	MUC2	1077944	0.023000	0.18921	0.001000	0.08648	0.246000	0.25737	0.942000	0.29017	-0.622000	0.05626	0.550000	0.68814	CGG		0.607	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		3	14	0	0	0	1	0	3	14				
NUFIP1	26747	broad.mit.edu	37	13	45533530	45533530	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr13:45533530A>C	ENST00000379161.4	-	7	1053	c.1007T>G	c.(1006-1008)aTa>aGa	p.I336R		NM_012345.2	NP_036477.2	Q9UHK0	NUFP1_HUMAN	nuclear fragile X mental retardation protein interacting protein 1	336					box C/D snoRNP assembly (GO:0000492)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|RNA processing (GO:0006396)	cytosolic ribosome (GO:0022626)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|pre-snoRNP complex (GO:0070761)|presynaptic active zone (GO:0048786)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)|RNA binding (GO:0003723)			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3)	18		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)		ATCACTGTTTATCAAAACACC	0.403																																						ENST00000379161.4																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3)	18						c.(1006-1008)aTa>aGa		nuclear fragile X mental retardation protein interacting protein 1							152.0	139.0	144.0					13																	45533530		2203	4300	6503	SO:0001583	missense	26747				box C/D snoRNP assembly|positive regulation of transcription from RNA polymerase II promoter|RNA processing	actin cytoskeleton|cytosolic ribosome|nuclear matrix|nucleolus|perichromatin fibrils|pre-snoRNP complex|presynaptic active zone|transcription elongation factor complex	DNA binding|identical protein binding|protein binding, bridging|RNA binding|zinc ion binding	g.chr13:45533530A>C	AF159548	CCDS9393.1	13q14	2008-02-05			ENSG00000083635	ENSG00000083635			8057	protein-coding gene	gene with protein product		604354				10556305, 10894927	Standard	NM_012345		Approved	NUFIP	uc001uzp.2	Q9UHK0	OTTHUMG00000016842	ENST00000379161.4:c.1007T>G	13.37:g.45533530A>C	ENSP00000368459:p.Ile336Arg						p.I336R	NM_012345.2	NP_036477.2	Q9UHK0	NUFP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)	7	1053	-		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	336					Q8WVM5|Q96SG1	Missense_Mutation	SNP	ENST00000379161.4	37	c.1007T>G	CCDS9393.1	.	.	.	.	.	.	.	.	.	.	A	11.21	1.572968	0.28092	.	.	ENSG00000083635	ENST00000379161	T	0.46063	0.88	5.11	2.96	0.34315	.	0.692620	0.14055	N	0.344462	T	0.26122	0.0637	L	0.34521	1.04	0.26811	N	0.968994	B	0.29909	0.261	B	0.26517	0.07	T	0.17623	-1.0363	10	0.22109	T	0.4	-1.1823	4.6076	0.12385	0.5074:0.0:0.4926:0.0	.	336	Q9UHK0	NUFP1_HUMAN	R	336	ENSP00000368459:I336R	ENSP00000368459:I336R	I	-	2	0	NUFIP1	44431530	0.935000	0.31712	0.044000	0.18714	0.876000	0.50452	1.726000	0.38085	0.395000	0.25257	0.519000	0.50382	ATA		0.403	NUFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044755.2	NM_012345		35	66	0	0	0	1	0	35	66				
GRIA1	2890	broad.mit.edu	37	5	153174234	153174234	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr5:153174234A>T	ENST00000285900.5	+	14	2667	c.2324A>T	c.(2323-2325)aAa>aTa	p.K775I	GRIA1_ENST00000518783.1_Missense_Mutation_p.K785I|GRIA1_ENST00000518142.1_Missense_Mutation_p.K695I|GRIA1_ENST00000448073.4_Intron|GRIA1_ENST00000340592.5_Intron|GRIA1_ENST00000521843.2_Missense_Mutation_p.K706I	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	775					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	CTTTTGGACAAATTGAAAAAC	0.443																																						ENST00000285900.5																			0				NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81						c.(2323-2325)aAa>aTa		glutamate receptor, ionotropic, AMPA 1	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						71.0	72.0	72.0					5																	153174234		2203	4300	6503	SO:0001583	missense	0				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:153174234A>T		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.2324A>T	5.37:g.153174234A>T	ENSP00000285900:p.Lys775Ile					GRIA1_ENST00000518142.1_Missense_Mutation_p.K695I|GRIA1_ENST00000518783.1_Missense_Mutation_p.K785I|GRIA1_ENST00000521843.2_Missense_Mutation_p.K706I|GRIA1_ENST00000340592.5_Intron|GRIA1_ENST00000448073.4_Intron	p.K775I	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		14	2667	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	775					B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	c.2324A>T	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	A	16.31	3.087250	0.55968	.	.	ENSG00000155511	ENST00000285900;ENST00000518142;ENST00000521843;ENST00000544794;ENST00000518783	T;T;T;T;T	0.34472	1.36;1.36;1.36;1.36;1.36	5.27	4.09	0.47781	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.45518	0.1346	L	0.48935	1.535	0.80722	D	1	D;B;D	0.89917	1.0;0.105;0.999	D;P;D	0.91635	0.999;0.544;0.987	T	0.45716	-0.9242	10	0.02654	T	1	.	11.9127	0.52747	0.8543:0.1457:0.0:0.0	.	785;695;775	E7ESV8;B7Z3F6;P42261	.;.;GRIA1_HUMAN	I	775;695;708;706;785	ENSP00000285900:K775I;ENSP00000427920:K695I;ENSP00000427864:K708I;ENSP00000442108:K706I;ENSP00000428994:K785I	ENSP00000285900:K775I	K	+	2	0	GRIA1	153154427	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.072000	0.93986	0.928000	0.37168	0.528000	0.53228	AAA		0.443	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			5	51	0	0	0	1	0	5	51				
LRRC10	376132	broad.mit.edu	37	12	70003941	70003941	+	Silent	SNP	G	G	A	rs367700049		TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr12:70003941G>A	ENST00000361484.3	-	1	1001	c.678C>T	c.(676-678)aaC>aaT	p.N226N		NM_201550.2	NP_963844.2	Q5BKY1	LRC10_HUMAN	leucine rich repeat containing 10	226					cardiac muscle cell development (GO:0055013)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sarcomere (GO:0030017)				large_intestine(2)|lung(6)	8	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			CCTTGGGTGCGTTCCTGCAAG	0.582																																						ENST00000361484.3																			0				large_intestine(2)|lung(6)	8						c.(676-678)aaC>aaT		leucine rich repeat containing 10		G		0,4406		0,0,2203	87.0	75.0	79.0		678	-2.9	1.0	12		79	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	LRRC10	NM_201550.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		226/278	70003941	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	376132					nucleus		g.chr12:70003941G>A	AK095935	CCDS31856.1	12q15	2009-09-08				ENSG00000198812			20264	protein-coding gene	gene with protein product		610846				14751244	Standard	NM_201550		Approved	HRLRRP, LRRC10A	uc001svc.3	Q5BKY1		ENST00000361484.3:c.678C>T	12.37:g.70003941G>A							p.N226N	NM_201550.2	NP_963844.2	Q5BKY1	LRC10_HUMAN	Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)		1	1001	-	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		226					Q6ZVY4	Silent	SNP	ENST00000361484.3	37	c.678C>T	CCDS31856.1																																																																																				0.582	LRRC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403834.1	NM_201550		7	23	0	0	0	1	0	7	23				
GRIN3A	116443	broad.mit.edu	37	9	104448995	104448995	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr9:104448995A>C	ENST00000361820.3	-	2	1787	c.1187T>G	c.(1186-1188)gTc>gGc	p.V396G		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	396					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	AGCTCTTGCGACCAGCTCCAT	0.498																																						ENST00000361820.3																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80						c.(1186-1188)gTc>gGc		glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)						124.0	94.0	104.0					9																	104448995		2203	4300	6503	SO:0001583	missense	116443				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	g.chr9:104448995A>C		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.1187T>G	9.37:g.104448995A>C	ENSP00000355155:p.Val396Gly						p.V396G	NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN			2	1787	-		Acute lymphoblastic leukemia(62;0.0568)	396					B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	37	c.1187T>G	CCDS6758.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.351005	0.82132	.	.	ENSG00000198785	ENST00000361820	D	0.87966	-2.32	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.90638	0.7064	L	0.52573	1.65	0.80722	D	1	D	0.55800	0.973	P	0.59948	0.866	D	0.91557	0.5261	10	0.87932	D	0	.	16.2147	0.82198	1.0:0.0:0.0:0.0	.	396	Q8TCU5	NMD3A_HUMAN	G	396	ENSP00000355155:V396G	ENSP00000355155:V396G	V	-	2	0	GRIN3A	103488816	1.000000	0.71417	0.989000	0.46669	0.995000	0.86356	7.229000	0.78088	2.231000	0.72958	0.460000	0.39030	GTC		0.498	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			4	80	0	0	0	1	0	4	80				
MECR	51102	broad.mit.edu	37	1	29527049	29527049	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr1:29527049G>A	ENST00000263702.6	-	7	834	c.809C>T	c.(808-810)aCa>aTa	p.T270I	MECR_ENST00000489248.1_5'Flank|MECR_ENST00000373791.3_Missense_Mutation_p.T194I			Q9BV79	MECR_HUMAN	mitochondrial trans-2-enoyl-CoA reductase	270					fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	trans-2-enoyl-CoA reductase (NADPH) activity (GO:0019166)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)	11		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)		CAGCAGCTCTGTGGAGCTTTT	0.562																																						ENST00000373791.3																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)	11						c.(580-582)aCa>aTa		mitochondrial trans-2-enoyl-CoA reductase							65.0	62.0	63.0					1																	29527049		2203	4300	6503	SO:0001583	missense	51102				fatty acid biosynthetic process	mitochondrion	trans-2-enoyl-CoA reductase (NADPH) activity|zinc ion binding	g.chr1:29527049G>A		CCDS30659.1, CCDS30660.1	1p35.3	2012-09-20			ENSG00000116353	ENSG00000116353	1.3.1.38		19691	protein-coding gene	gene with protein product	"""nuclear receptor binding factor 1"", ""mitochondrial 2-enoyl thioester reductase"""	608205				9795230, 12654921	Standard	XM_005245885		Approved	CGI-63, NRBF1, FASN2B	uc001brq.1	Q9BV79	OTTHUMG00000059082	ENST00000263702.6:c.809C>T	1.37:g.29527049G>A	ENSP00000263702:p.Thr270Ile					MECR_ENST00000263702.6_Missense_Mutation_p.T270I	p.T194I	NM_001024732.1|NM_016011.2	NP_001019903.1|NP_057095.2	Q9BV79	MECR_HUMAN		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)	7	953	-		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)	270					B3KT72|Q5SYU0|Q5SYU1|Q5SYU2|Q6IBU9|Q9Y373	Missense_Mutation	SNP	ENST00000263702.6	37	c.581C>T	CCDS30659.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.021042	0.75275	.	.	ENSG00000116353	ENST00000373791;ENST00000263702	T;T	0.04454	3.62;3.62	5.71	4.8	0.61643	Alcohol dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.140761	0.64402	N	0.000005	T	0.13628	0.0330	M	0.79258	2.445	0.80722	D	1	P	0.42941	0.794	P	0.48840	0.592	T	0.00518	-1.1693	10	0.52906	T	0.07	-12.3087	12.3689	0.55244	0.0818:0.0:0.9182:0.0	.	270	Q9BV79	MECR_HUMAN	I	194;270	ENSP00000362896:T194I;ENSP00000263702:T270I	ENSP00000263702:T270I	T	-	2	0	MECR	29399636	1.000000	0.71417	0.996000	0.52242	0.999000	0.98932	6.416000	0.73332	1.406000	0.46857	0.655000	0.94253	ACA		0.562	MECR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130740.1	NM_016011		4	26	0	0	0	1	0	4	26				
SLC8A1	6546	broad.mit.edu	37	2	40342400	40342400	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr2:40342400delC	ENST00000403092.1	-	11	2948	c.2915delG	c.(2914-2916)ggcfs	p.G972fs	SLC8A1_ENST00000405901.3_Frame_Shift_Del_p.G967fs|SLC8A1_ENST00000402441.1_Frame_Shift_Del_p.G936fs|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1_ENST00000406785.2_Frame_Shift_Del_p.G936fs|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1_ENST00000406391.2_Frame_Shift_Del_p.G936fs|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1_ENST00000332839.4_Frame_Shift_Del_p.G972fs|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1_ENST00000408028.2_Frame_Shift_Del_p.G964fs|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000542756.1_Frame_Shift_Del_p.G967fs|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1_ENST00000542024.1_Frame_Shift_Del_p.G936fs|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000405269.1_Frame_Shift_Del_p.G936fs			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	972					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CCTTTAGAAGCCTTTTATGTG	0.398																																						ENST00000406785.1																			0				NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100						c.(2806-2808)gcfs		solute carrier family 8 (sodium/calcium exchanger), member 1	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						29.0	33.0	32.0					2																	40342400		2202	4300	6502	SO:0001589	frameshift_variant	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40342400delC		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.2915delG	2.37:g.40342400delC	ENSP00000384763:p.Gly972fs					SLC8A1_ENST00000405901.3_Frame_Shift_Del_p.G967fs|SLC8A1_ENST00000405269.1_Frame_Shift_Del_p.G936fs|SLC8A1_ENST00000403092.1_Frame_Shift_Del_p.G972fs|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1_ENST00000402441.1_Frame_Shift_Del_p.G936fs|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000332839.4_Frame_Shift_Del_p.G972fs|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000542024.1_Frame_Shift_Del_p.G936fs|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1_ENST00000542756.1_Frame_Shift_Del_p.G967fs|SLC8A1_ENST00000408028.2_Frame_Shift_Del_p.G964fs|SLC8A1_ENST00000406391.2_Frame_Shift_Del_p.G936fs|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA	p.G936fs			P32418	NAC1_HUMAN			8	2996	-			972					A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Frame_Shift_Del	DEL	ENST00000403092.1	37	c.2807delG	CCDS1806.1																																																																																				0.398	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		25	41						25	41	---	---	---	---
POU3F3	5455	broad.mit.edu	37	2	105472850	105472852	+	In_Frame_Del	DEL	CGG	CGG	-	rs550439793|rs577550493	byFrequency	TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr2:105472850_105472852delCGG	ENST00000361360.2	+	1	882_884	c.882_884delCGG	c.(880-885)cacggc>cac	p.G300del	RP11-13J10.1_ENST00000598623.1_RNA	NM_006236.1	NP_006227.1	P20264	PO3F3_HUMAN	POU class 3 homeobox 3	300	Gly-rich.				central nervous system development (GO:0007417)|cerebral cortex radially oriented cell migration (GO:0021799)|forebrain ventricular zone progenitor cell division (GO:0021869)|metanephric ascending thin limb development (GO:0072218)|metanephric DCT cell differentiation (GO:0072240)|metanephric loop of Henle development (GO:0072236)|metanephric macula densa development (GO:0072227)|metanephric thick ascending limb development (GO:0072233)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						CCCCGCACCAcggcggcggcggc	0.749																																						ENST00000361360.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(880-885)cac>ca		POU class 3 homeobox 3				18,2126		3,12,1057						2.0	1.0			4	52,4812		3,46,2383	no	coding	POU3F3	NM_006236.1		6,58,3440	A1A1,A1R,RR		1.0691,0.8396,0.9989				70,6938				SO:0001651	inframe_deletion	5455				metanephric ascending thin limb development|metanephric DCT cell differentiation|metanephric macula densa development|metanephric thick ascending limb development|negative regulation of apoptosis|positive regulation of cell proliferation	nucleus	sequence-specific DNA binding	g.chr2:105472850_105472852delCGG		CCDS33265.1	2q12.1	2011-06-20	2007-07-13		ENSG00000198914	ENSG00000198914		"""Homeoboxes / POU class"""	9216	protein-coding gene	gene with protein product		602480	"""POU domain class 3, transcription factor 3"""				Standard	NM_006236		Approved	BRN1, OTF8	uc010ywg.2	P20264	OTTHUMG00000153067	ENST00000361360.2:c.882_884delCGG	2.37:g.105472859_105472861delCGG	ENSP00000355001:p.Gly300del					RP11-13J10.1_ENST00000598623.1_RNA	p.HG294del	NM_006236.1	NP_006227.1	P20264	PO3F3_HUMAN			1	882_884	+			294			Gly-rich.|His-rich.		P78379|Q4ZG25	In_Frame_Del	DEL	ENST00000361360.2	37	c.882_884delCGG	CCDS33265.1																																																																																				0.749	POU3F3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329335.2			2	4						2	4	---	---	---	---
COL22A1	169044	broad.mit.edu	37	8	139809072	139809072	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr8:139809072delT	ENST00000303045.6	-	12	2032	c.1586delA	c.(1585-1587)aagfs	p.K529fs	COL22A1_ENST00000435777.1_Frame_Shift_Del_p.K529fs	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	529	Collagen-like 2.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CTTTTCACCCTTTTCCCCTTG	0.463										HNSCC(7;0.00092)																												ENST00000303045.6																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211						c.(1585-1587)agfs		collagen, type XXII, alpha 1							251.0	246.0	248.0					8																	139809072		2203	4300	6503	SO:0001589	frameshift_variant	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139809072delT	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.1586delA	8.37:g.139809072delT	ENSP00000303153:p.Lys529fs	HNSCC(7;0.00092)				COL22A1_ENST00000435777.1_Frame_Shift_Del_p.K529fs	p.K529fs	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		12	2032	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		529			Collagen-like 2.|Gly-rich.|Pro-rich.		B7ZMH0|C9K0G4|Q8IVT9	Frame_Shift_Del	DEL	ENST00000303045.6	37	c.1586delA	CCDS6376.1																																																																																				0.463	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		7	450						7	450	---	---	---	---
AGAP4	119016	broad.mit.edu	37	10	46342668	46342688	+	In_Frame_Del	DEL	GCTCCTGCCATCCTGTCCCCA	GCTCCTGCCATCCTGTCCCCA	-	rs200468982	byFrequency	TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr10:46342668_46342688delGCTCCTGCCATCCTGTCCCCA	ENST00000448048.2	-	1	233_253	c.108_128delTGGGGACAGGATGGCAGGAGC	c.(106-129)gctggggacaggatggcaggagcg>gcg	p.36_43AGDRMAGA>A	AGAP4_ENST00000430779.2_5'UTR	NM_133446.2	NP_597703.2	Q96P64	AGAP4_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 4	36					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.G37_A43delGDRMAGA(1)		central_nervous_system(1)|lung(1)|ovary(1)	3						AGCCATGGGCGCTCCTGCCATCCTGTCCCCAGCTCCTGCCT	0.588																																						ENST00000448048.2																			1	Deletion - In frame(1)	p.G37_A43delGDRMAGA(1)	central_nervous_system(1)	central_nervous_system(1)|lung(1)|ovary(1)	3						c.(106-129)gcg>gc		ArfGAP with GTPase domain, ankyrin repeat and PH domain 4				0,6		0,0,3						-2.8	0.0			1	28,40		13,2,19	no	coding	AGAP4	NM_133446.2		13,2,22	A1A1,A1R,RR		41.1765,0.0,37.8378				28,46				SO:0001651	inframe_deletion	119016				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:46342668_46342688delGCTCCTGCCATCCTGTCCCCA	AF411132	CCDS7215.1	10q11.21	2014-06-19	2008-09-22	2008-09-22	ENSG00000188234	ENSG00000188234		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23459	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 1"", ""ArfGAP with GTPase domain, ankyrin repeat and PH domain 8"", ""centaurin, gamma-like family, member 5"""	CTGLF1, AGAP8, CTGLF5		12477932	Standard	XM_005271797		Approved	Em:AC012044.1, MRIP2	uc001jcx.4	Q96P64	OTTHUMG00000018088	ENST00000448048.2:c.108_128delTGGGGACAGGATGGCAGGAGC	10.37:g.46342668_46342688delGCTCCTGCCATCCTGTCCCCA	ENSP00000392513:p.Ala36_Gly42del					AGAP4_ENST00000430779.2_5'UTR	p.AGDRMAGA36del	NM_133446.2	NP_597703.2	Q96P64	AGAP4_HUMAN			1	233_253	-			36						In_Frame_Del	DEL	ENST00000448048.2	37	c.108_128delTGGGGACAGGATGGCAGGAGC	CCDS7215.1																																																																																				0.588	AGAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047799.1	NM_133446		3	5						3	5	---	---	---	---
LINC00663	284440	broad.mit.edu	37	19	19879888	19879894	+	lincRNA	DEL	TTTTTTT	TTTTTTT	-	rs200643366|rs552172911	byFrequency	TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr19:19879888_19879894delTTTTTTT	ENST00000590274.1	-	0	116																											aaaacattgattttttttttttttttg	0.386														1009	0.201478	0.1059	0.1916	5008	,	,		16200	0.4187		0.169	False		,,,				2504	0.1472					ENST00000590274.1																			0																																																			0							g.chr19:19879888_19879894delTTTTTTT																													19.37:g.19879895_19879901delTTTTTTT														0	116	-									RNA	DEL	ENST00000590274.1	37																																																																																						0.386	CTC-559E9.4-001	KNOWN	basic|readthrough_transcript	lincRNA	lincRNA	OTTHUMT00000460784.1			2	4						2	4	---	---	---	---
