#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
ACAN	176	broad.mit.edu	37	15	89386657	89386657	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr15:89386657G>A	ENST00000561243.1	+	5	829	c.829G>A	c.(829-831)Ggt>Agt	p.G277S	ACAN_ENST00000352105.7_Missense_Mutation_p.G277S|ACAN_ENST00000439576.2_Missense_Mutation_p.G277S|ACAN_ENST00000559004.1_Missense_Mutation_p.G277S|ACAN_ENST00000558207.1_Missense_Mutation_p.G277S			P16112	PGCA_HUMAN	aggrecan	277	G1-B'.|Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)	p.G277S(2)		NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CCGGCGGCTGGGTGCCCGGCT	0.647																																						ENST00000439576.2																			2	Substitution - Missense(2)	p.G277S(2)	prostate(2)	NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(829-831)Ggt>Agt		aggrecan							16.0	20.0	19.0					15																	89386657		1946	4138	6084	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89386657G>A	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.829G>A	15.37:g.89386657G>A	ENSP00000453342:p.Gly277Ser					ACAN_ENST00000559004.1_Missense_Mutation_p.G277S|ACAN_ENST00000352105.7_Missense_Mutation_p.G277S|ACAN_ENST00000558207.1_Missense_Mutation_p.G277S|ACAN_ENST00000561243.1_Missense_Mutation_p.G277S	p.G277S	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		6	1203	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		277					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.829G>A	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.716677	0.89205	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.15256	2.44;2.44	5.56	5.56	0.83823	.	0.000000	0.33253	N	0.005114	T	0.44222	0.1283	M	0.71036	2.16	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.31971	-0.9924	10	0.72032	D	0.01	-24.2727	18.5257	0.90971	0.0:0.0:1.0:0.0	.	277;277;277	E7ENV9;E7EX88;Q6PID9	.;.;.	S	277	ENSP00000387356:G277S;ENSP00000341615:G277S	ENSP00000268134:G277S	G	+	1	0	ACAN	87187661	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.684000	0.98659	2.626000	0.88956	0.650000	0.86243	GGT		0.647	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		6	13	0	0	0	0.335167	0	6	13				
LRP1B	53353	broad.mit.edu	37	2	141473656	141473656	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr2:141473656G>T	ENST00000389484.3	-	37	6880	c.5909C>A	c.(5908-5910)aCa>aAa	p.T1970K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1970					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.T1970K(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACCATGATCTGTCCAATATAT	0.318										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			1	Substitution - Missense(1)	p.T1970K(1)	prostate(1)	NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(5908-5910)aCa>aAa		low density lipoprotein receptor-related protein 1B							108.0	115.0	113.0					2																	141473656		2203	4299	6502	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141473656G>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.5909C>A	2.37:g.141473656G>T	ENSP00000374135:p.Thr1970Lys	TSP Lung(27;0.18)					p.T1970K	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	37	6880	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	1970					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.5909C>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.602641	0.87157	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.92911	-3.13	5.35	5.35	0.76521	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	U	0.000001	D	0.96639	0.8903	H	0.96111	3.77	0.51012	D	0.999905	D	0.54772	0.968	P	0.52909	0.713	D	0.97844	1.0270	10	0.87932	D	0	.	19.0753	0.93159	0.0:0.0:1.0:0.0	.	1970	Q9NZR2	LRP1B_HUMAN	K	1970;1908	ENSP00000374135:T1970K	ENSP00000374135:T1970K	T	-	2	0	LRP1B	141190126	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.862000	0.87013	2.515000	0.84797	0.650000	0.86243	ACA		0.318	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		22	344	1	0	3.5997e-14	0.624587	4.63598e-14	22	344				
MTMR14	64419	broad.mit.edu	37	3	9714410	9714410	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr3:9714410C>T	ENST00000296003.4	+	7	841	c.719C>T	c.(718-720)gCc>gTc	p.A240V	MTMR14_ENST00000353332.5_Missense_Mutation_p.A240V|MTMR14_ENST00000351233.5_Missense_Mutation_p.A240V|MTMR14_ENST00000420925.1_Intron	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	240					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					CAGCGCTATGCCGACTTCACT	0.542																																						ENST00000296003.4																			0				breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21						c.(718-720)gCc>gTc		myotubularin related protein 14							151.0	149.0	150.0					3																	9714410		2019	4172	6191	SO:0001583	missense	64419					perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity	g.chr3:9714410C>T	BC001674	CCDS43043.1, CCDS43044.1, CCDS43045.1	3p26	2011-06-09	2006-12-18	2006-12-18	ENSG00000163719	ENSG00000163719		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	26190	protein-coding gene	gene with protein product	"""egg-derived tyrosine phosphatase homolog (Drosophila)"""	611089	"""chromosome 3 open reading frame 29"""	C3orf29		15186772	Standard	NM_022485		Approved	FLJ22405, FLJ90311, hJumpy, hEDTP	uc003brz.3	Q8NCE2	OTTHUMG00000155111	ENST00000296003.4:c.719C>T	3.37:g.9714410C>T	ENSP00000296003:p.Ala240Val					MTMR14_ENST00000420925.1_Intron|MTMR14_ENST00000353332.5_Missense_Mutation_p.A240V|MTMR14_ENST00000351233.5_Missense_Mutation_p.A240V	p.A240V	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN			7	841	+	Medulloblastoma(99;0.227)		240					Q0JTH5|Q0JU83|Q6PIZ4|Q6QE21|Q86VK9|Q8IYK1|Q8TCM7|Q9H6C0	Missense_Mutation	SNP	ENST00000296003.4	37	c.719C>T	CCDS43043.1	.	.	.	.	.	.	.	.	.	.	C	36	5.659344	0.96734	.	.	ENSG00000163719	ENST00000353332;ENST00000296003;ENST00000351233;ENST00000419048	D;D;D	0.90133	-2.62;-2.62;-2.62	5.59	5.59	0.84812	.	0.047393	0.85682	D	0.000000	D	0.93200	0.7834	L	0.60455	1.87	0.80722	D	1	D;P;P	0.55385	0.971;0.692;0.514	P;P;B	0.55749	0.783;0.466;0.197	D	0.93549	0.6885	10	0.72032	D	0.01	-5.5846	19.216	0.93778	0.0:1.0:0.0:0.0	.	240;240;240	Q8NCE2-3;Q8NCE2-2;Q8NCE2	.;.;MTMRE_HUMAN	V	240	ENSP00000323462:A240V;ENSP00000296003:A240V;ENSP00000334070:A240V	ENSP00000296003:A240V	A	+	2	0	MTMR14	9689410	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.039000	0.76544	2.625000	0.88918	0.655000	0.94253	GCC		0.542	MTMR14-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338435.1	NM_022485		5	167	0	0	0	0.217242	0	5	167				
LMAN1	3998	broad.mit.edu	37	18	57006162	57006162	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr18:57006162C>T	ENST00000251047.5	-	9	1696	c.979G>A	c.(979-981)Gga>Aga	p.G327R		NM_005570.3	NP_005561.1	P49257	LMAN1_HUMAN	lectin, mannose-binding, 1	327					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|positive regulation of organelle organization (GO:0010638)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|sarcomere (GO:0030017)	mannose binding (GO:0005537)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)	p.G327R(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	TCTCGATCTCCTACACTCTCA	0.368																																						ENST00000251047.5																			1	Substitution - Missense(1)	p.G327R(1)	prostate(1)	breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						c.(979-981)Gga>Aga		lectin, mannose-binding, 1	Antihemophilic Factor(DB00025)						96.0	92.0	93.0					18																	57006162		2203	4300	6503	SO:0001583	missense	3998				blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding	g.chr18:57006162C>T	X71661	CCDS11974.1	18q21.3-q22	2014-09-17	2002-08-30		ENSG00000074695	ENSG00000074695			6631	protein-coding gene	gene with protein product	"""endoplasmic reticulum-golgi intermediate compartment protein 53"""	601567	"""coagulation factor V-factor VIII combined deficiency"""	F5F8D		9546392, 8854877	Standard	NM_005570		Approved	MR60, ERGIC-53, ERGIC53, gp58, MCFD1, FMFD1	uc002lhz.3	P49257	OTTHUMG00000132758	ENST00000251047.5:c.979G>A	18.37:g.57006162C>T	ENSP00000251047:p.Gly327Arg						p.G327R	NM_005570.3	NP_005561.1	P49257	LMAN1_HUMAN			9	1696	-		Colorectal(73;0.0946)	327					Q12895|Q8N5I7|Q9UQG1|Q9UQG2|Q9UQG3|Q9UQG4|Q9UQG5|Q9UQG6|Q9UQG7|Q9UQG8|Q9UQG9|Q9UQH0|Q9UQH1|Q9UQH2	Missense_Mutation	SNP	ENST00000251047.5	37	c.979G>A	CCDS11974.1	.	.	.	.	.	.	.	.	.	.	C	17.51	3.407889	0.62399	.	.	ENSG00000074695	ENST00000251047	T	0.55052	0.54	5.67	4.58	0.56647	.	0.172900	0.64402	D	0.000008	T	0.33235	0.0856	L	0.36672	1.1	0.41059	D	0.985368	B	0.30511	0.282	B	0.26517	0.07	T	0.15122	-1.0448	10	0.13470	T	0.59	-23.7009	4.4961	0.11837	0.0:0.7054:0.0:0.2946	.	327	P49257	LMAN1_HUMAN	R	327	ENSP00000251047:G327R	ENSP00000251047:G327R	G	-	1	0	LMAN1	55157142	1.000000	0.71417	0.983000	0.44433	0.997000	0.91878	4.700000	0.61803	2.836000	0.97738	0.655000	0.94253	GGA		0.368	LMAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256129.2	NM_005570		41	178	0	0	0	0.834066	0	41	178				
MCM4	4173	broad.mit.edu	37	8	48878815	48878815	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr8:48878815G>A	ENST00000262105.2	+	8	1110	c.901G>A	c.(901-903)Gag>Aag	p.E301K	MCM4_ENST00000523944.1_Missense_Mutation_p.E301K	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	301					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)	p.E301K(1)		biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				CGAGATGCAGGAGGCCTTCTT	0.617																																						ENST00000262105.2																			1	Substitution - Missense(1)	p.E301K(1)	prostate(1)	biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44						c.(901-903)Gag>Aag		minichromosome maintenance complex component 4							111.0	93.0	99.0					8																	48878815		2203	4300	6503	SO:0001583	missense	4173				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding	g.chr8:48878815G>A		CCDS6143.1	8q12-q13	2008-02-05	2007-04-04		ENSG00000104738	ENSG00000104738			6947	protein-coding gene	gene with protein product		602638	"""MCM4 minichromosome maintenance deficient 4 (S. cerevisiae)"""	CDC21		7601140	Standard	NM_005914		Approved	CDC54, hCdc21, P1-Cdc21, MGC33310	uc003xql.2	P33991	OTTHUMG00000164205	ENST00000262105.2:c.901G>A	8.37:g.48878815G>A	ENSP00000262105:p.Glu301Lys					MCM4_ENST00000523944.1_Missense_Mutation_p.E301K	p.E301K	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN			8	1110	+		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)	301					Q8NEH1|Q99658	Missense_Mutation	SNP	ENST00000262105.2	37	c.901G>A	CCDS6143.1	.	.	.	.	.	.	.	.	.	.	G	16.10	3.028480	0.54790	.	.	ENSG00000104738	ENST00000523944;ENST00000262105;ENST00000396826;ENST00000429229;ENST00000520637	T;T;T	0.03982	3.74;3.74;3.74	5.63	5.63	0.86233	Nucleic acid-binding, OB-fold-like (1);	0.000000	0.85682	D	0.000000	T	0.10637	0.0260	L	0.42581	1.335	0.80722	D	1	P;P	0.39920	0.695;0.695	P;B	0.45753	0.492;0.313	T	0.01393	-1.1366	10	0.59425	D	0.04	-35.9724	20.0314	0.97540	0.0:0.0:1.0:0.0	.	301;301	B3KMX0;P33991	.;MCM4_HUMAN	K	301;301;288;261;63	ENSP00000430194:E301K;ENSP00000262105:E301K;ENSP00000427875:E63K	ENSP00000262105:E301K	E	+	1	0	MCM4	49041368	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.303000	0.96183	2.802000	0.96397	0.561000	0.74099	GAG		0.617	MCM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377791.1	NM_005914		93	76	0	0	0	0.870114	0	93	76				
DOCK3	1795	broad.mit.edu	37	3	50879110	50879110	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr3:50879110G>A	ENST00000266037.9	+	3	149	c.126G>A	c.(124-126)tgG>tgA	p.W42*		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	42	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.W42*(2)|p.W31*(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TTTTAGGTTGGTACAGAGGAG	0.294																																						ENST00000266037.9																			3	Substitution - Nonsense(3)	p.W42*(2)|p.W31*(1)	prostate(3)	breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45						c.(124-126)tgG>tgA		dedicator of cytokinesis 3							66.0	55.0	58.0					3																	50879110		1823	4070	5893	SO:0001587	stop_gained	1795					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr3:50879110G>A	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.126G>A	3.37:g.50879110G>A	ENSP00000266037:p.Trp42*						p.W42*	NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)	3	149	+			42			SH3.		O15017	Nonsense_Mutation	SNP	ENST00000266037.9	37	c.126G>A	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.442230	0.83993	.	.	ENSG00000088538	ENST00000266037	.	.	.	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.6818	0.69023	0.0:0.0:1.0:0.0	.	.	.	.	X	42	.	ENSP00000266037:W42X	W	+	3	0	DOCK3	50854114	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.519000	0.53458	2.528000	0.85240	0.650000	0.86243	TGG		0.294	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947		7	10	0	0	0	0.335167	0	7	10				
MSLN	10232	broad.mit.edu	37	16	818698	818698	+	Missense_Mutation	SNP	G	G	A	rs74953641	byFrequency	TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr16:818698G>A	ENST00000382862.3	+	17	1953	c.1858G>A	c.(1858-1860)Gtc>Atc	p.V620I	MSLN_ENST00000563941.1_Missense_Mutation_p.V612I|MSLN_ENST00000545450.2_Missense_Mutation_p.V612I|MIR662_ENST00000384847.1_RNA|MSLN_ENST00000566549.1_Missense_Mutation_p.V612I	NM_013404.4	NP_037536.2	Q13421	MSLN_HUMAN	mesothelin	620					cell adhesion (GO:0007155)|pancreas development (GO:0031016)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.V620I(2)		breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				TGTTCTCACCGTCCTGGCACT	0.701													G|||	12	0.00239617	0.0015	0.0	5008	,	,		14249	0.0089		0.001	False		,,,				2504	0.0					ENST00000566549.1																			2	Substitution - Missense(2)	p.V620I(2)	prostate(2)	breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20						c.(1834-1836)Gtc>Atc		mesothelin		G	ILE/VAL,ILE/VAL,ILE/VAL	2,4386	4.2+/-10.8	0,2,2192	72.0	61.0	64.0		1858,1834,1834	0.7	0.0	16	dbSNP_131	64	2,8584	2.2+/-6.3	0,2,4291	yes	missense,missense,missense	MSLN	NM_013404.4,NM_005823.5,NM_001177355.1	29,29,29	0,4,6483	AA,AG,GG		0.0233,0.0456,0.0308	benign,benign,benign	620/631,612/623,612/623	818698	4,12970	2194	4293	6487	SO:0001583	missense	10232				cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane		g.chr16:818698G>A	U40434	CCDS32356.1, CCDS45370.1	16p13.3	2008-04-16			ENSG00000102854	ENSG00000102854			7371	protein-coding gene	gene with protein product		601051				7665620, 8552591	Standard	NM_005823		Approved	CAK1, MPF	uc002cjw.2	Q13421	OTTHUMG00000047992	ENST00000382862.3:c.1858G>A	16.37:g.818698G>A	ENSP00000372313:p.Val620Ile					MSLN_ENST00000545450.2_Missense_Mutation_p.V612I|MSLN_ENST00000563941.1_Missense_Mutation_p.V612I|MSLN_ENST00000382862.3_Missense_Mutation_p.V620I	p.V612I			Q13421	MSLN_HUMAN			17	2251	+		Hepatocellular(780;0.00335)	620					D3DU65|Q14859|Q4VQD5|Q96GR6|Q96KJ5|Q9BR17|Q9BTR2|Q9UCB2|Q9UK57	Missense_Mutation	SNP	ENST00000382862.3	37	c.1834G>A	CCDS32356.1	2	9.157509157509158E-4	0	0.0	0	0.0	1	0.0017482517482517483	1	0.0013192612137203166	G	1.526	-0.545577	0.04024	4.56E-4	2.33E-4	ENSG00000102854	ENST00000446427;ENST00000445361;ENST00000545450;ENST00000382862	T;T	0.10860	2.83;2.83	2.84	0.725	0.18242	.	3.095740	0.01919	N	0.040412	T	0.03178	0.0093	N	0.02142	-0.665	0.09310	N	1	B;B;B	0.31026	0.259;0.304;0.259	B;B;B	0.17722	0.011;0.019;0.011	T	0.29941	-0.9995	10	0.07813	T	0.8	.	3.0745	0.06242	0.1628:0.0:0.4838:0.3534	.	611;620;612	Q13421-4;Q13421;Q13421-3	.;MSLN_HUMAN;.	I	620;612;612;620	ENSP00000442965:V612I;ENSP00000372313:V620I	ENSP00000372313:V620I	V	+	1	0	MSLN	758699	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-0.535000	0.06142	0.194000	0.20326	0.407000	0.27541	GTC		0.701	MSLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109253.2			5	96	0	0	0	0.184627	0	5	96				
LCN15	389812	broad.mit.edu	37	9	139651558	139651558	+	IGR	SNP	C	C	T	rs370405104		TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr9:139651558C>T	ENST00000316144.5	-	0	762				LCN15_ENST00000482511.1_5'Flank|LCN8_ENST00000371688.3_Silent_p.P29P|LCN8_ENST00000482893.1_5'UTR	NM_203347.1	NP_976222.1	Q6UWW0	LCN15_HUMAN	lipocalin 15						lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	small molecule binding (GO:0036094)|transporter activity (GO:0005215)	p.P29P(1)		endometrium(1)|lung(1)	2						CCACCCGCTTCGGGGCCGTCA	0.587													C|||	1	0.000199681	0.0	0.0	5008	,	,		17104	0.001		0.0	False		,,,				2504	0.0					ENST00000371688.3																			1	Substitution - coding silent(1)	p.P29P(1)	prostate(1)	endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)	10						c.(85-87)ccG>ccA		lipocalin 8							55.0	47.0	50.0					9																	139651558		2203	4300	6503	SO:0001628	intergenic_variant	138307				transport	extracellular region	binding	g.chr9:139651558C>T		CCDS7006.1	9q34.3	2011-10-24			ENSG00000177984	ENSG00000177984		"""Lipocalins"""	33777	protein-coding gene	gene with protein product							Standard	NM_203347		Approved	UNQ2541, PRO6093	uc004cjd.3	Q6UWW0	OTTHUMG00000020943		9.37:g.139651558C>T						LCN8_ENST00000482893.1_5'UTR	p.P29P	NM_178469.3	NP_848564.2	Q6JVE9	LCN8_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.56e-06)|Epithelial(140;8.32e-05)	2	382	-	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)	52						Silent	SNP	ENST00000316144.5	37	c.87G>A	CCDS7006.1																																																																																				0.587	LCN15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055114.2	NM_203347		4	49	0	0	0	0.150653	0	4	49				
ZNF800	168850	broad.mit.edu	37	7	127013912	127013912	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr7:127013912C>T	ENST00000393313.1	-	5	2069	c.1478G>A	c.(1477-1479)cGt>cAt	p.R493H	ZNF800_ENST00000485577.1_5'Flank|ZNF800_ENST00000393312.1_Missense_Mutation_p.R493H|ZNF800_ENST00000265827.3_Missense_Mutation_p.R493H			Q2TB10	ZN800_HUMAN	zinc finger protein 800	493					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R493H(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						AGTAAACTGACGTTTACAAAG	0.383																																						ENST00000393313.1																			2	Substitution - Missense(2)	p.R493H(2)	prostate(2)	breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						c.(1477-1479)cGt>cAt		zinc finger protein 800							61.0	58.0	59.0					7																	127013912		2203	4300	6503	SO:0001583	missense	168850				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:127013912C>T	AF218032	CCDS5795.1	7q31.33	2008-05-02			ENSG00000048405	ENSG00000048405		"""Zinc fingers, C2H2-type"""	27267	protein-coding gene	gene with protein product						12477932	Standard	NM_176814		Approved		uc003vly.1	Q2TB10	OTTHUMG00000023456	ENST00000393313.1:c.1478G>A	7.37:g.127013912C>T	ENSP00000376989:p.Arg493His					ZNF800_ENST00000265827.3_Missense_Mutation_p.R493H|ZNF800_ENST00000393312.1_Missense_Mutation_p.R493H	p.R493H			Q2TB10	ZN800_HUMAN			5	2069	-			493					Q9HBN0	Missense_Mutation	SNP	ENST00000393313.1	37	c.1478G>A	CCDS5795.1	.	.	.	.	.	.	.	.	.	.	C	18.30	3.594397	0.66219	.	.	ENSG00000048405	ENST00000393313;ENST00000265827;ENST00000393312	T;T;T	0.23950	1.88;1.88;1.88	5.98	5.98	0.97165	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.45796	0.1360	L	0.52266	1.64	0.35354	D	0.787655	D;D	0.76494	0.999;0.999	D;D	0.64595	0.927;0.927	T	0.05209	-1.0899	8	.	.	.	-25.9808	19.4402	0.94817	0.0:1.0:0.0:0.0	.	396;493	B7Z4V7;Q2TB10	.;ZN800_HUMAN	H	493	ENSP00000376989:R493H;ENSP00000265827:R493H;ENSP00000376988:R493H	.	R	-	2	0	ZNF800	126801148	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.838000	0.97847	0.591000	0.81541	CGT		0.383	ZNF800-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141823.1	NM_176814		34	189	0	0	0	0.769981	0	34	189				
PDHA2	5161	broad.mit.edu	37	4	96761615	96761615	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr4:96761615G>A	ENST00000295266.4	+	1	377	c.314G>A	c.(313-315)gGc>gAc	p.G105D		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	105					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		CTTGAGGCCGGCATAAACCCC	0.517																																						ENST00000295266.4																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46						c.(313-315)gGc>gAc		pyruvate dehydrogenase (lipoamide) alpha 2	NADH(DB00157)						129.0	113.0	119.0					4																	96761615		2203	4300	6503	SO:0001583	missense	5161				glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	g.chr4:96761615G>A		CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.314G>A	4.37:g.96761615G>A	ENSP00000295266:p.Gly105Asp						p.G105D	NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	1	377	+		Hepatocellular(203;0.114)	105					B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Missense_Mutation	SNP	ENST00000295266.4	37	c.314G>A	CCDS3644.1	.	.	.	.	.	.	.	.	.	.	G	10.75	1.439043	0.25900	.	.	ENSG00000163114	ENST00000295266	D	0.97114	-4.25	4.91	4.05	0.47172	Dehydrogenase, E1 component (1);	0.263878	0.35179	N	0.003394	D	0.97408	0.9152	L	0.56124	1.755	0.21220	N	0.999757	D	0.61697	0.99	D	0.69824	0.966	D	0.92952	0.6381	10	0.87932	D	0	-17.1313	11.773	0.51970	0.0:0.3428:0.6572:0.0	.	105	P29803	ODPAT_HUMAN	D	105	ENSP00000295266:G105D	ENSP00000295266:G105D	G	+	2	0	PDHA2	96980638	1.000000	0.71417	0.093000	0.20910	0.022000	0.10575	3.757000	0.55212	1.408000	0.46895	0.467000	0.42956	GGC		0.517	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253608.1			6	205	0	0	0	0.248553	0	6	205				
F11	2160	broad.mit.edu	37	4	187197050	187197050	+	Splice_Site	SNP	G	G	T			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr4:187197050G>T	ENST00000403665.2	+	6	947	c.595G>T	c.(595-597)Gct>Tct	p.A199S	F11_ENST00000264692.4_Splice_Site_p.A147S	NM_000128.3	NP_000119.1	P03951	FA11_HUMAN	coagulation factor XI	199					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|serine-type aminopeptidase activity (GO:0070009)|serine-type endopeptidase activity (GO:0004252)	p.A199S(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	TTCTAATCTGGGTAATTATCG	0.408																																						ENST00000264692.4																			1	Substitution - Missense(1)	p.A199S(1)	prostate(1)	NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32						c.e6+1		coagulation factor XI	Coagulation Factor IX(DB00100)						92.0	83.0	86.0					4																	187197050		2203	4300	6503	SO:0001630	splice_region_variant	2160				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity	g.chr4:187197050G>T	M13142	CCDS3847.1	4q35	2008-08-01	2008-08-01		ENSG00000088926	ENSG00000088926	3.4.21.27		3529	protein-coding gene	gene with protein product	"""plasma thromboplastin antecedent"""	264900					Standard	NM_000128		Approved	FXI	uc003iza.1	P03951	OTTHUMG00000150311	ENST00000403665.2:c.595+1G>T	4.37:g.187197050G>T						F11_ENST00000403665.2_Splice_Site_p.A199_splice	p.A147_splice			P03951	FA11_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	6	772	+		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)	199			Apple 2.		D3DP64|Q4W5C2|Q9Y495	Splice_Site	SNP	ENST00000403665.2	37	c.439_splice	CCDS3847.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.11|16.11	3.030596|3.030596	0.54790|0.54790	.|.	.|.	ENSG00000088926|ENSG00000088926	ENST00000403665;ENST00000264692|ENST00000452239	D;D|.	0.88896|.	-2.44;-2.44|.	5.46|5.46	5.46|5.46	0.80206|0.80206	.|.	0.154929|.	0.44902|.	D|.	0.000412|.	T|T	0.73666|0.73666	0.3616|0.3616	M|M	0.67953|0.67953	2.075|2.075	0.39036|0.39036	D|D	0.960047|0.960047	B|.	0.30634|.	0.288|.	B|.	0.31191|.	0.125|.	T|T	0.74375|0.74375	-0.3686|-0.3686	10|5	0.66056|.	D|.	0.02|.	.|.	17.0768|17.0768	0.86588|0.86588	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	199|.	P03951|.	FA11_HUMAN|.	S|C	199;147|14	ENSP00000384957:A199S;ENSP00000264692:A147S|.	ENSP00000264692:A147S|.	A|W	+|+	1|3	0|0	F11|F11	187434044|187434044	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.232000|0.232000	0.25224|0.25224	4.311000|4.311000	0.59147|0.59147	2.536000|2.536000	0.85505|0.85505	0.655000|0.655000	0.94253|0.94253	GCT|TGG		0.408	F11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317519.4		Missense_Mutation	18	40	1	0	2.48551e-13	0.520397	3.15325e-13	18	40				
BCAN	63827	broad.mit.edu	37	1	156616762	156616762	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr1:156616762G>T	ENST00000329117.5	+	3	597	c.261G>T	c.(259-261)gaG>gaT	p.E87D	RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.E87D|RP11-284F21.10_ENST00000605886.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	87	Ig-like V-type.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)	p.E87D(1)		cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGGGCCGGGAGGCAGAGGTGC	0.706																																						ENST00000329117.4																			1	Substitution - Missense(1)	p.E87D(1)	prostate(1)	cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55						c.(259-261)gaG>gaT		brevican							29.0	27.0	27.0					1																	156616762		2198	4294	6492	SO:0001583	missense	63827				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	g.chr1:156616762G>T	BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	23059	protein-coding gene	gene with protein product	"""chondroitin sulfate proteoglycan 7"", ""brevican proteoglycan"""	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.261G>T	1.37:g.156616762G>T	ENSP00000331210:p.Glu87Asp					BCAN_ENST00000361588.5_Missense_Mutation_p.E87D|RP11-284F21.7_ENST00000448869.1_RNA	p.E87D	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN			3	597	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		87			Ig-like V-type.		D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Missense_Mutation	SNP	ENST00000329117.5	37	c.261G>T	CCDS1149.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.267939	0.80469	.	.	ENSG00000132692	ENST00000441358;ENST00000255029;ENST00000329117;ENST00000457777;ENST00000361588	T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15	4.61	4.61	0.57282	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000015	T	0.67822	0.2934	M	0.62088	1.915	0.43628	D	0.996013	D;P	0.89917	1.0;0.849	D;P	0.91635	0.999;0.644	T	0.70741	-0.4789	10	0.59425	D	0.04	-9.1311	9.8783	0.41218	0.0949:0.0:0.9051:0.0	.	87;87	Q96GW7;Q96GW7-2	PGCB_HUMAN;.	D	87	ENSP00000392731:E87D;ENSP00000331210:E87D;ENSP00000389898:E87D;ENSP00000354925:E87D	ENSP00000255029:E87D	E	+	3	2	BCAN	154883386	1.000000	0.71417	0.998000	0.56505	0.820000	0.46376	2.126000	0.42026	2.379000	0.81126	0.455000	0.32223	GAG		0.706	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	NM_021948		4	60	1	0	0.00116845	0.217242	0.00130681	4	60				
TGM7	116179	broad.mit.edu	37	15	43577105	43577105	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr15:43577105C>T	ENST00000452443.2	-	7	915	c.911G>A	c.(910-912)cGt>cAt	p.R304H		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	304					peptide cross-linking (GO:0018149)		metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.R304H(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	GTGCGCGGAACGGAAATTGGA	0.423																																						ENST00000452443.2																			1	Substitution - Missense(1)	p.R304H(1)	prostate(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39						c.(910-912)cGt>cAt		transglutaminase 7	L-Glutamine(DB00130)						189.0	155.0	166.0					15																	43577105		2202	4299	6501	SO:0001583	missense	116179				peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr15:43577105C>T	AF363393	CCDS32213.1	15q15.2	2004-07-01				ENSG00000159495		"""Transglutaminases"""	30790	protein-coding gene	gene with protein product	"""transglutaminase Z"""	606776				11390390	Standard	NM_052955		Approved	TGMZ	uc001zrf.1	Q96PF1		ENST00000452443.2:c.911G>A	15.37:g.43577105C>T	ENSP00000389466:p.Arg304His						p.R304H	NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN		GBM - Glioblastoma multiforme(94;9.14e-07)	7	915	-		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	304						Missense_Mutation	SNP	ENST00000452443.2	37	c.911G>A	CCDS32213.1	.	.	.	.	.	.	.	.	.	.	C	15.24	2.774127	0.49786	.	.	ENSG00000159495	ENST00000452443	T	0.50813	0.73	5.63	2.25	0.28309	Transglutaminase-like (2);	0.272836	0.36200	N	0.002722	T	0.29190	0.0726	N	0.22421	0.69	0.25009	N	0.991413	B	0.19583	0.037	B	0.12837	0.008	T	0.14364	-1.0475	10	0.30854	T	0.27	-5.2273	8.0184	0.30395	0.0:0.6504:0.0:0.3496	.	304	Q96PF1	TGM7_HUMAN	H	304	ENSP00000389466:R304H	ENSP00000389466:R304H	R	-	2	0	TGM7	41364397	0.491000	0.26019	0.992000	0.48379	0.993000	0.82548	0.587000	0.23909	0.160000	0.19432	0.655000	0.94253	CGT		0.423	TGM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432489.1	NM_052955		41	205	0	0	0	0.827153	0	41	205				
SCN1A	6323	broad.mit.edu	37	2	166900451	166900451	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr2:166900451C>T	ENST00000303395.4	-	11	1770	c.1771G>A	c.(1771-1773)Gca>Aca	p.A591T	AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.A591T|SCN1A_ENST00000423058.2_Missense_Mutation_p.A591T|SCN1A_ENST00000375405.3_Missense_Mutation_p.A591T			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	591					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TCATCATCTGCGAAGTCGTTC	0.517																																						ENST00000423058.2																			0				NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200						c.(1771-1773)Gca>Aca		sodium channel, voltage-gated, type I, alpha subunit	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						151.0	137.0	141.0					2																	166900451		2203	4300	6503	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166900451C>T	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.1771G>A	2.37:g.166900451C>T	ENSP00000303540:p.Ala591Thr					AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.A591T|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.A591T|SCN1A_ENST00000375405.3_Missense_Mutation_p.A591T	p.A591T	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN			11	1788	-			591					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.1771G>A	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.670151	0.67814	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.98512	-4.97;-4.97;-4.97;-4.97	5.37	4.49	0.54785	Domain of unknown function DUF3451 (1);	0.084144	0.51477	N	0.000088	D	0.98745	0.9578	M	0.92412	3.305	0.54753	D	0.999984	D;D;P	0.65815	0.964;0.995;0.814	P;P;B	0.54924	0.617;0.764;0.34	D	0.98621	1.0667	10	0.46703	T	0.11	.	13.7837	0.63097	0.0:0.926:0.0:0.074	.	591;591;591	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	T	591	ENSP00000407030:A591T;ENSP00000303540:A591T;ENSP00000364554:A591T;ENSP00000386312:A591T	ENSP00000303540:A591T	A	-	1	0	SCN1A	166608697	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	7.773000	0.85462	1.256000	0.44068	0.561000	0.74099	GCA		0.517	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		6	236	0	0	0	0.217242	0	6	236				
AGL	178	broad.mit.edu	37	1	100327247	100327247	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr1:100327247T>C	ENST00000294724.4	+	3	749	c.271T>C	c.(271-273)Ttt>Ctt	p.F91L	AGL_ENST00000370165.3_Missense_Mutation_p.F91L|AGL_ENST00000370161.2_Missense_Mutation_p.F75L|AGL_ENST00000361522.4_Missense_Mutation_p.F74L|AGL_ENST00000361302.3_Missense_Mutation_p.F75L|AGL_ENST00000370163.3_Missense_Mutation_p.F91L|AGL_ENST00000361915.3_Missense_Mutation_p.F91L	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	91					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)	p.F91L(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		ATCTGGTTCATTTCAGTATTA	0.313																																						ENST00000294724.4																			1	Substitution - Missense(1)	p.F91L(1)	prostate(1)	NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69						c.(271-273)Ttt>Ctt		amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase							96.0	103.0	100.0					1																	100327247		2202	4298	6500	SO:0001583	missense	178				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding	g.chr1:100327247T>C	BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"""glycogen debranching enzyme"", ""glycogen storage disease type III"""	610860	"""amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"""			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.271T>C	1.37:g.100327247T>C	ENSP00000294724:p.Phe91Leu					AGL_ENST00000370163.3_Missense_Mutation_p.F91L|AGL_ENST00000370165.3_Missense_Mutation_p.F91L|AGL_ENST00000361915.3_Missense_Mutation_p.F91L|AGL_ENST00000361522.4_Missense_Mutation_p.F74L|AGL_ENST00000370161.2_Missense_Mutation_p.F75L|AGL_ENST00000361302.3_Missense_Mutation_p.F75L	p.F91L	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)	3	749	+		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)	91					A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Missense_Mutation	SNP	ENST00000294724.4	37	c.271T>C	CCDS759.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.799593	0.90538	.	.	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	T;T;T;T;T;T;T	0.61274	0.12;0.12;0.12;0.12;0.12;0.12;0.12	5.17	5.17	0.71159	.	0.062065	0.64402	D	0.000002	T	0.61502	0.2352	M	0.75085	2.285	0.54753	D	0.999982	P;P;P	0.46912	0.886;0.886;0.819	P;P;P	0.52109	0.69;0.69;0.493	T	0.68610	-0.5363	10	0.72032	D	0.01	.	15.0052	0.71507	0.0:0.0:0.0:1.0	.	74;75;91	P35573-2;P35573-3;P35573	.;.;GDE_HUMAN	L	91;91;91;91;75;75;74	ENSP00000355106:F91L;ENSP00000359184:F91L;ENSP00000359182:F91L;ENSP00000294724:F91L;ENSP00000354971:F75L;ENSP00000359180:F75L;ENSP00000354635:F74L	ENSP00000294724:F91L	F	+	1	0	AGL	100099835	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.985000	0.88162	1.949000	0.56562	0.533000	0.62120	TTT		0.313	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	NM_000028		37	108	0	0	0	0.834066	0	37	108				
FAM135A	57579	broad.mit.edu	37	6	71232237	71232237	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr6:71232237T>G	ENST00000418814.2	+	13	1665	c.1051T>G	c.(1051-1053)Ttc>Gtc	p.F351V	FAM135A_ENST00000505868.1_Missense_Mutation_p.F351V|FAM135A_ENST00000505769.1_Missense_Mutation_p.F351V|FAM135A_ENST00000370479.3_Missense_Mutation_p.F334V|FAM135A_ENST00000361499.3_Missense_Mutation_p.F351V|FAM135A_ENST00000457062.2_Missense_Mutation_p.F334V	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	351								p.F351V(1)|p.F334V(1)		breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						TTCTGAGGCATTCTTTTGTTT	0.333																																						ENST00000418814.2																			2	Substitution - Missense(2)	p.F351V(1)|p.F334V(1)	prostate(2)	breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						c.(1051-1053)Ttc>Gtc		family with sequence similarity 135, member A							143.0	154.0	150.0					6																	71232237		2203	4300	6503	SO:0001583	missense	57579							g.chr6:71232237T>G	AK000183	CCDS34481.1, CCDS47448.1, CCDS55028.1	6q13	2008-10-30	2007-05-11	2007-05-11	ENSG00000082269	ENSG00000082269			21084	protein-coding gene	gene with protein product			"""KIAA1411"""	KIAA1411		10718198	Standard	NM_001105531		Approved	FLJ20176	uc003pfj.3	Q9P2D6	OTTHUMG00000014991	ENST00000418814.2:c.1051T>G	6.37:g.71232237T>G	ENSP00000410768:p.Phe351Val					FAM135A_ENST00000505769.1_Missense_Mutation_p.F351V|FAM135A_ENST00000457062.2_Missense_Mutation_p.F334V|FAM135A_ENST00000361499.3_Missense_Mutation_p.F351V|FAM135A_ENST00000370479.3_Missense_Mutation_p.F334V|FAM135A_ENST00000505868.1_Missense_Mutation_p.F351V	p.F351V	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN			13	1665	+			351					A2RRQ5|Q3C0H3|Q5JXK0|Q5JXK1|Q68DW0|Q6P081|Q9H0F2|Q9NU48|Q9NUQ5|Q9NXL5	Missense_Mutation	SNP	ENST00000418814.2	37	c.1051T>G	CCDS55028.1	.	.	.	.	.	.	.	.	.	.	T	26.3	4.726257	0.89298	.	.	ENSG00000082269	ENST00000418814;ENST00000370479;ENST00000505769;ENST00000515323;ENST00000457062;ENST00000361499;ENST00000505868	T;T;T;T;T;T;T	0.21734	1.99;1.99;1.99;1.99;1.99;1.99;1.99	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.37019	0.0988	M	0.72353	2.195	0.43714	D	0.996185	D;D;D;D;D	0.89917	1.0;1.0;0.997;1.0;1.0	D;D;D;D;D	0.97110	0.998;1.0;0.995;0.997;0.997	T	0.16897	-1.0387	10	0.49607	T	0.09	.	15.5533	0.76170	0.0:0.0:0.0:1.0	.	351;351;351;351;334	Q9P2D6-4;D6RC17;Q9P2D6;Q9P2D6-2;Q9P2D6-3	.;.;F135A_HUMAN;.;.	V	351;334;351;351;334;351;351	ENSP00000410768:F351V;ENSP00000359510:F334V;ENSP00000423785:F351V;ENSP00000422406:F351V;ENSP00000409201:F334V;ENSP00000354913:F351V;ENSP00000423307:F351V	ENSP00000354913:F351V	F	+	1	0	FAM135A	71288958	1.000000	0.71417	0.988000	0.46212	0.980000	0.70556	7.036000	0.76524	2.078000	0.62432	0.402000	0.26972	TTC		0.333	FAM135A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041137.2	NM_020819		72	192	0	0	0	0.870114	0	72	192				
ANKRD30A	91074	broad.mit.edu	37	10	37508619	37508619	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr10:37508619C>A	ENST00000602533.1	+	34	3910	c.3811C>A	c.(3811-3813)Caa>Aaa	p.Q1271K	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.Q1271K|ANKRD30A_ENST00000374660.1_Missense_Mutation_p.Q1390K			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1327					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q1271K(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						ATTTCAACTACAAAGCAAAAA	0.338																																						ENST00000374660.1																			1	Substitution - Missense(1)	p.Q1271K(1)	prostate(1)	NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						c.(4168-4170)Caa>Aaa		ankyrin repeat domain 30A							55.0	49.0	51.0					10																	37508619		1855	4092	5947	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37508619C>A	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.3811C>A	10.37:g.37508619C>A	ENSP00000473551:p.Gln1271Lys					ANKRD30A_ENST00000602533.1_Missense_Mutation_p.Q1271K|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.Q1271K	p.Q1390K			Q9BXX3	AN30A_HUMAN			40	4267	+			1327					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.4168C>A		.	.	.	.	.	.	.	.	.	.	c	0.014	-1.573107	0.00887	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.19250	2.16;2.16	2.95	2.03	0.26663	.	.	.	.	.	T	0.14013	0.0339	L	0.36672	1.1	0.09310	N	1	P	0.38504	0.634	B	0.35607	0.206	T	0.17048	-1.0382	9	0.11794	T	0.64	.	9.4953	0.38984	0.0:0.7812:0.2188:0.0	.	1327	Q9BXX3	AN30A_HUMAN	K	1271;1390	ENSP00000354432:Q1271K;ENSP00000363792:Q1390K	ENSP00000354432:Q1271K	Q	+	1	0	ANKRD30A	37548625	0.654000	0.27367	0.001000	0.08648	0.001000	0.01503	0.650000	0.24858	0.425000	0.26087	-0.502000	0.04539	CAA		0.338	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		7	78	1	0	8.12818e-05	0.248553	9.33643e-05	7	78				
TLK2	11011	broad.mit.edu	37	17	60654069	60654069	+	Splice_Site	SNP	G	G	A			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr17:60654069G>A	ENST00000326270.9	+	14	1455		c.e14-1		TLK2_ENST00000542523.1_Splice_Site|TLK2_ENST00000582809.1_Splice_Site|TLK2_ENST00000346027.5_Splice_Site|TLK2_ENST00000343388.7_Splice_Site	NM_001284333.1	NP_001271262.1	Q86UE8	TLK2_HUMAN	tousled-like kinase 2						cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|negative regulation of autophagy (GO:0010507)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	intermediate filament (GO:0005882)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.?(3)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						CTGTTTTTCAGGTTAACGTTA	0.313																																						ENST00000582809.1																			3	Unknown(3)	p.?(3)	prostate(3)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						c.e14-1		tousled-like kinase 2							103.0	100.0	101.0					17																	60654069		2203	4300	6503	SO:0001630	splice_region_variant	11011				cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr17:60654069G>A	AB004884	CCDS11633.1, CCDS45753.1, CCDS62283.1	17q23	2008-07-18							11842	protein-coding gene	gene with protein product		608439				9427565, 10523312	Standard	NM_006852		Approved	PKU-ALPHA, MGC44450	uc002izz.4	Q86UE8		ENST00000326270.9:c.1188-1G>A	17.37:g.60654069G>A						TLK2_ENST00000326270.9_Splice_Site|TLK2_ENST00000346027.5_Splice_Site|TLK2_ENST00000343388.7_Splice_Site|TLK2_ENST00000542523.1_Splice_Site				Q86UE8	TLK2_HUMAN			14	1377	+								D3DU07|Q9UKI7|Q9Y4F7	Splice_Site	SNP	ENST00000326270.9	37			.	.	.	.	.	.	.	.	.	.	G	24.9	4.580501	0.86645	.	.	ENSG00000146872	ENST00000346027;ENST00000343388;ENST00000326270;ENST00000542523	.	.	.	5.69	5.69	0.88448	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2282	0.93825	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TLK2	58007801	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.813000	0.99286	2.857000	0.98124	0.650000	0.86243	.		0.313	TLK2-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000445140.1	NM_006852	Intron	9	271	0	0	0	0.387290	0	9	271				
NDC80	10403	broad.mit.edu	37	18	2610828	2610828	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr18:2610828G>A	ENST00000261597.4	+	16	1941	c.1759G>A	c.(1759-1761)Gag>Aag	p.E587K		NM_006101.2	NP_006092.1	O14777	NDC80_HUMAN	NDC80 kinetochore complex component	587	Interaction with NEK2 and ZWINT.|Interaction with the C-terminus of CDCA1 and the SPBC24-SPBC25 subcomplex.				attachment of spindle microtubules to kinetochore (GO:0008608)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)	chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)		p.E587K(1)		NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						ACGTCTGTTAGAGATGGTTGC	0.373																																						ENST00000261597.4																			1	Substitution - Missense(1)	p.E587K(1)	prostate(1)	NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						c.(1759-1761)Gag>Aag		NDC80 kinetochore complex component							173.0	153.0	160.0					18																	2610828		2203	4300	6503	SO:0001583	missense	10403				attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling	condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex	protein binding	g.chr18:2610828G>A	AF017790	CCDS11827.1	18p11.31	2013-01-17	2013-01-17	2007-03-02	ENSG00000080986	ENSG00000080986			16909	protein-coding gene	gene with protein product		607272	"""highly expressed in cancer, rich in leucine heptad repeats (yeast)"", ""kinetochore associated 2"", ""NDC80 kinetochore complex component homolog (S. cerevisiae)"""	KNTC2		9315664, 12351790	Standard	NM_006101		Approved	HEC, HEC1, hsNDC80, TID3	uc002kli.3	O14777	OTTHUMG00000131483	ENST00000261597.4:c.1759G>A	18.37:g.2610828G>A	ENSP00000261597:p.Glu587Lys						p.E587K	NM_006101.2	NP_006092.1	O14777	NDC80_HUMAN			16	1941	+			587			Interaction with NEK2 and ZWINT.|Interaction with the C-terminus of CDCA1 and the SPBC24-SPBC25 subcomplex.		Q6PJX2	Missense_Mutation	SNP	ENST00000261597.4	37	c.1759G>A	CCDS11827.1	.	.	.	.	.	.	.	.	.	.	G	12.94	2.088140	0.36855	.	.	ENSG00000080986	ENST00000261597	T	0.52754	0.65	5.43	5.43	0.79202	.	0.339475	0.35838	N	0.002954	T	0.44180	0.1281	L	0.57536	1.79	0.38399	D	0.945625	B	0.27229	0.172	B	0.21917	0.037	T	0.42344	-0.9457	10	0.35671	T	0.21	-14.3161	13.7218	0.62732	0.0:0.1548:0.8452:0.0	.	587	O14777	NDC80_HUMAN	K	587	ENSP00000261597:E587K	ENSP00000261597:E587K	E	+	1	0	NDC80	2600828	1.000000	0.71417	1.000000	0.80357	0.792000	0.44763	4.210000	0.58500	2.547000	0.85894	0.650000	0.86243	GAG		0.373	NDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254327.1	NM_006101		14	255	0	0	0	0.435327	0	14	255				
CEP152	22995	broad.mit.edu	37	15	49036526	49036526	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr15:49036526C>T	ENST00000380950.2	-	24	3933	c.3746G>A	c.(3745-3747)gGg>gAg	p.G1249E	CEP152_ENST00000399334.3_Missense_Mutation_p.G1193E|CEP152_ENST00000325747.5_Missense_Mutation_p.G1156E	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	1249					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)	p.G1193E(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TTCAATGGCCCCTGCTGACAA	0.338																																						ENST00000380950.2																			1	Substitution - Missense(1)	p.G1193E(1)	prostate(1)	breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63						c.(3745-3747)gGg>gAg		centrosomal protein 152kDa							52.0	48.0	49.0					15																	49036526		1809	4069	5878	SO:0001583	missense	22995				centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	g.chr15:49036526C>T	AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"""asterless"""	613529	"""microcephaly, primary autosomal recessive 4"""	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.3746G>A	15.37:g.49036526C>T	ENSP00000370337:p.Gly1249Glu					CEP152_ENST00000399334.3_Missense_Mutation_p.G1193E|CEP152_ENST00000325747.5_Missense_Mutation_p.G1156E	p.G1249E	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)	24	3933	-		all_lung(180;0.0428)	1193					E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	ENST00000380950.2	37	c.3746G>A	CCDS58361.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.848658	0.51164	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334	T;T;T	0.59502	0.58;0.64;0.26	5.09	5.09	0.68999	.	0.082143	0.49305	D	0.000153	T	0.71048	0.3294	M	0.70595	2.14	0.40965	D	0.984657	D;D;D	0.89917	1.0;0.987;0.987	D;P;P	0.97110	1.0;0.621;0.621	T	0.69072	-0.5242	10	0.27785	T	0.31	-20.8622	10.5093	0.44853	0.0:0.8489:0.0:0.1511	.	1156;1249;1193	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	E	1249;1156;1193	ENSP00000370337:G1249E;ENSP00000321000:G1156E;ENSP00000382271:G1193E	ENSP00000321000:G1156E	G	-	2	0	CEP152	46823818	0.934000	0.31675	0.971000	0.41717	0.759000	0.43091	1.792000	0.38754	2.531000	0.85337	0.460000	0.39030	GGG		0.338	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985		47	58	0	0	0	0.870114	0	47	58				
HAL	3034	broad.mit.edu	37	12	96389484	96389484	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr12:96389484G>A	ENST00000261208.3	-	2	573	c.205C>T	c.(205-207)Cgg>Tgg	p.R69W	RP11-256L6.3_ENST00000551849.1_RNA|HAL_ENST00000541929.1_5'UTR|HAL_ENST00000538703.1_Missense_Mutation_p.R69W	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase	69					biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	histidine ammonia-lyase activity (GO:0004397)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	ACCTCGAGCCGGTCCTCGTTG	0.612																																					NSCLC(169;943 2815 23563 30031)	ENST00000261208.3																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34						c.(205-207)Cgg>Tgg		histidine ammonia-lyase	L-Histidine(DB00117)						59.0	52.0	55.0					12																	96389484		2203	4298	6501	SO:0001583	missense	3034				biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity	g.chr12:96389484G>A		CCDS9058.1, CCDS58264.1, CCDS58265.1	12q22-q24.1	1991-07-12				ENSG00000084110	4.3.1.3		4806	protein-coding gene	gene with protein product		609457		HIS			Standard	NM_002108		Approved		uc001tem.2	P42357	OTTHUMG00000170354	ENST00000261208.3:c.205C>T	12.37:g.96389484G>A	ENSP00000261208:p.Arg69Trp					HAL_ENST00000538703.1_Missense_Mutation_p.R69W|HAL_ENST00000541929.1_5'UTR	p.R69W	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN			2	573	-			69					B4DQC1|B4E0V8|F5GXF2|F5H1U5|Q4VB92|Q4VB93	Missense_Mutation	SNP	ENST00000261208.3	37	c.205C>T	CCDS9058.1	.	.	.	.	.	.	.	.	.	.	G	9.703	1.155091	0.21371	.	.	ENSG00000084110	ENST00000261208;ENST00000538703;ENST00000552509	T;T;D	0.86030	-1.06;-1.06;-2.06	5.29	-0.128	0.13506	.	1.008340	0.07951	N	0.980828	T	0.69433	0.3110	N	0.14661	0.345	0.39529	D	0.96863	P;P	0.37864	0.61;0.536	B;B	0.36885	0.235;0.036	T	0.60737	-0.7204	10	0.66056	D	0.02	0.1674	1.5693	0.02612	0.1477:0.1902:0.2991:0.3631	.	69;69	F5GXF2;P42357	.;HUTH_HUMAN	W	69	ENSP00000261208:R69W;ENSP00000440861:R69W;ENSP00000450372:R69W	ENSP00000261208:R69W	R	-	1	2	HAL	94913615	0.030000	0.19436	0.047000	0.18901	0.017000	0.09413	0.228000	0.17814	-0.207000	0.10187	0.561000	0.74099	CGG		0.612	HAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408644.1			3	70	0	0	0	0.115264	0	3	70				
NYNRIN	57523	broad.mit.edu	37	14	24878180	24878180	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr14:24878180C>A	ENST00000382554.3	+	4	1498	c.1180C>A	c.(1180-1182)Cag>Aag	p.Q394K		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	394					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)	p.Q394K(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CCCCTTCTGGCAGAGACCTCT	0.567																																						ENST00000382554.3																			1	Substitution - Missense(1)	p.Q394K(1)	prostate(1)	breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(1180-1182)Cag>Aag		NYN domain and retroviral integrase containing							28.0	29.0	28.0					14																	24878180		1890	4105	5995	SO:0001583	missense	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24878180C>A	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.1180C>A	14.37:g.24878180C>A	ENSP00000371994:p.Gln394Lys						p.Q394K	NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN			4	1498	+			394					Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	ENST00000382554.3	37	c.1180C>A	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	C	19.31	3.802780	0.70682	.	.	ENSG00000205978	ENST00000382554	T	0.21361	2.01	5.55	3.66	0.41972	.	0.714512	0.12042	N	0.504980	T	0.18299	0.0439	L	0.27053	0.805	0.24593	N	0.993813	D	0.53885	0.963	P	0.47528	0.549	T	0.07121	-1.0789	10	0.87932	D	0	.	6.8971	0.24262	0.0:0.7318:0.1771:0.0911	.	394	Q9P2P1	NYNRI_HUMAN	K	394	ENSP00000371994:Q394K	ENSP00000371994:Q394K	Q	+	1	0	NYNRIN	23948020	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	2.267000	0.43329	2.885000	0.99019	0.655000	0.94253	CAG		0.567	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			11	34	1	0	5.50884e-06	0.411799	6.50349e-06	11	34				
TNKS	8658	broad.mit.edu	37	8	9413594	9413594	+	Missense_Mutation	SNP	A	A	G	rs201993870	byFrequency	TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr8:9413594A>G	ENST00000310430.6	+	1	171	c.145A>G	c.(145-147)Acg>Gcg	p.T49A	TNKS_ENST00000520408.1_Missense_Mutation_p.T49A|TNKS_ENST00000522110.1_Missense_Mutation_p.T49A|RP11-375N15.2_ENST00000607598.1_RNA	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	49					mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|mRNA transport (GO:0051028)|negative regulation of DNA binding (GO:0043392)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein poly-ADP-ribosylation (GO:0070212)|protein polyubiquitination (GO:0000209)|protein transport (GO:0015031)|regulation of telomere maintenance via telomerase (GO:0032210)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	chromosome, centromeric region (GO:0000775)|chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nuclear chromosome, telomeric region (GO:0000784)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|zinc ion binding (GO:0008270)	p.T49A(3)		NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		AGCCTCTCCCACGGCCAGCGG	0.776													A|||	4	0.000798722	0.0	0.0014	5008	,	,		11538	0.0		0.001	False		,,,				2504	0.002					ENST00000310430.6																			3	Substitution - Missense(3)	p.T49A(3)	prostate(3)	NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49						c.(145-147)Acg>Gcg		tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase		A	ALA/THR	0,4106		0,0,2053	8.0	10.0	10.0		145	3.7	0.5	8		10	10,8068		0,10,4029	no	missense	TNKS	NM_003747.2	58	0,10,6082	GG,GA,AA		0.1238,0.0,0.0821	benign	49/1328	9413594	10,12174	2053	4039	6092	SO:0001583	missense	8658				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding	g.chr8:9413594A>G	AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	11941	protein-coding gene	gene with protein product		603303				9822378, 10198177	Standard	XM_006716263		Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000310430.6:c.145A>G	8.37:g.9413594A>G	ENSP00000311579:p.Thr49Ala					TNKS_ENST00000520408.1_Missense_Mutation_p.T49A|RP11-375N15.2_ENST00000607598.1_RNA|TNKS_ENST00000522110.1_Missense_Mutation_p.T49A	p.T49A	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN		COAD - Colon adenocarcinoma(149;0.0467)	1	171	+			49					O95272|Q4G0F2	Missense_Mutation	SNP	ENST00000310430.6	37	c.145A>G	CCDS5974.1	.	.	.	.	.	.	.	.	.	.	A	9.922	1.212413	0.22289	0.0	0.001238	ENSG00000173273	ENST00000520408;ENST00000310430;ENST00000522110	T;T	0.61040	0.14;0.17	4.84	3.71	0.42584	.	0.081042	0.46145	D	0.000312	T	0.29684	0.0741	N	0.14661	0.345	0.21627	N	0.999618	B;B	0.18461	0.028;0.001	B;B	0.16722	0.016;0.001	T	0.05818	-1.0862	10	0.15066	T	0.55	.	0.7901	0.01056	0.4897:0.1864:0.1459:0.1779	.	49;49	E7EWY6;O95271	.;TNKS1_HUMAN	A	49	ENSP00000428299:T49A;ENSP00000311579:T49A	ENSP00000311579:T49A	T	+	1	0	TNKS	9451004	0.193000	0.23313	0.491000	0.27477	0.803000	0.45373	0.909000	0.28558	2.154000	0.67381	0.533000	0.62120	ACG		0.776	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206935.1	NM_003747		4	5	0	0	0	0.335167	0	4	5				
HSPG2	3339	broad.mit.edu	37	1	22207181	22207181	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr1:22207181C>A	ENST00000374695.3	-	15	2045	c.1966G>T	c.(1966-1968)Gct>Tct	p.A656S		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	656	Laminin IV type A 1. {ECO:0000255|PROSITE-ProRule:PRU00458}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)	p.A656S(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	TGGTTCAGAGCACCAGGTTGG	0.662																																						ENST00000374695.3																			1	Substitution - Missense(1)	p.A656S(1)	prostate(1)	breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(1966-1968)Gct>Tct		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)						21.0	22.0	21.0					1																	22207181		2193	4294	6487	SO:0001583	missense	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22207181C>A	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.1966G>T	1.37:g.22207181C>A	ENSP00000363827:p.Ala656Ser						p.A656S	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	15	2045	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	656			Laminin IV type A 1.		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.1966G>T	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	C	3.138	-0.177046	0.06380	.	.	ENSG00000142798	ENST00000374695	T	0.34472	1.36	5.64	-8.1	0.01086	Laminin B type IV (2);Laminin B, subgroup (1);	1.547610	0.04337	N	0.353430	T	0.14787	0.0357	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.12837	0.008	T	0.15521	-1.0434	10	0.21540	T	0.41	.	5.9603	0.19295	0.0973:0.1932:0.0963:0.6132	.	656	P98160	PGBM_HUMAN	S	656	ENSP00000363827:A656S	ENSP00000363827:A656S	A	-	1	0	HSPG2	22079768	0.000000	0.05858	0.000000	0.03702	0.091000	0.18340	-0.861000	0.04268	-1.227000	0.02571	-0.345000	0.07892	GCT		0.662	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		12	7	1	0	0.00136819	0.411799	0.00151034	12	7				
NRXN3	9369	broad.mit.edu	37	14	80271470	80271470	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr14:80271470C>A	ENST00000557594.1	+	5	1878	c.925C>A	c.(925-927)Ctt>Att	p.L309I	NRXN3_ENST00000428277.2_Missense_Mutation_p.L339I|NRXN3_ENST00000281127.7_Missense_Mutation_p.L309I|NRXN3_ENST00000556003.1_Intron|NRXN3_ENST00000335750.5_Missense_Mutation_p.L941I|NRXN3_ENST00000554719.1_Missense_Mutation_p.L941I	NM_001272020.1	NP_001258949.1	Q9HDB5	NRX3B_HUMAN	neurexin 3	309					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)	p.L941I(1)|p.L339I(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		ATCAGATGATCTTGTTTCATC	0.383																																						ENST00000281127.7																			2	Substitution - Missense(2)	p.L941I(1)|p.L339I(1)	prostate(2)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104						c.(925-927)Ctt>Att		neurexin 3							232.0	206.0	215.0					14																	80271470		2203	4300	6503	SO:0001583	missense	9369				angiogenesis|cell adhesion	integral to membrane		g.chr14:80271470C>A	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000557594.1:c.925C>A	14.37:g.80271470C>A	ENSP00000451672:p.Leu309Ile					NRXN3_ENST00000557594.1_Missense_Mutation_p.L309I|NRXN3_ENST00000428277.2_Missense_Mutation_p.L339I|NRXN3_ENST00000556003.1_Intron|NRXN3_ENST00000335750.5_Missense_Mutation_p.L941I|NRXN3_ENST00000554719.1_Missense_Mutation_p.L941I	p.L309I	NM_138970.3	NP_620426.2	Q9HDB5	NRX3B_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	5	1804	+		Renal(4;0.00876)	309					A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	ENST00000557594.1	37	c.925C>A		.	.	.	.	.	.	.	.	.	.	C	14.49	2.550544	0.45383	.	.	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000554719;ENST00000335750;ENST00000557594;ENST00000281127;ENST00000428277	T;T;T;T;T	0.70164	-0.46;-0.46;1.26;1.35;1.11	5.41	5.41	0.78517	.	0.139545	0.45126	D	0.000397	T	0.47911	0.1471	N	0.12182	0.205	0.40452	D	0.980155	B;B;B;B	0.28350	0.008;0.208;0.0;0.024	B;B;B;B	0.29862	0.06;0.108;0.002;0.006	T	0.47142	-0.9140	9	.	.	.	.	13.2808	0.60212	0.2657:0.7342:0.0:0.0	.	339;309;309;941	Q9HDB5-4;Q9HDB5-2;Q9HDB5;Q9Y4C0-3	.;.;NRX3B_HUMAN;.	I	1314;1333;941;941;309;309;339	ENSP00000451648:L941I;ENSP00000338349:L941I;ENSP00000451672:L309I;ENSP00000281127:L309I;ENSP00000394426:L339I	.	L	+	1	0	NRXN3	79341223	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.081000	0.50120	2.532000	0.85374	0.650000	0.86243	CTT		0.383	NRXN3-004	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000413790.1	NM_001105250		9	228	1	0	4.68919e-08	0.361761	5.69402e-08	9	228				
OR52A1	23538	broad.mit.edu	37	11	5172693	5172693	+	Missense_Mutation	SNP	G	G	A	rs199986389		TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr11:5172693G>A	ENST00000380367.1	-	2	1324	c.907C>T	c.(907-909)Cgc>Tgc	p.R303C	OR52A1_ENST00000328942.1_Missense_Mutation_p.R303C			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	303					sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|transmembrane signaling receptor activity (GO:0004888)	p.R303C(1)		breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACATGAATGCGAATCTGTGTG	0.358																																						ENST00000380367.1																			1	Substitution - Missense(1)	p.R303C(1)	prostate(1)	breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19						c.(907-909)Cgc>Tgc		olfactory receptor, family 52, subfamily A, member 1		G	CYS/ARG	0,4402		0,0,2201	133.0	141.0	138.0		907	1.3	0.0	11		138	1,8593		0,1,4296	yes	missense	OR52A1	NM_012375.2	180	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	benign	303/313	5172693	1,12995	2201	4297	6498	SO:0001583	missense	23538				sensory perception of smell	integral to plasma membrane	olfactory receptor activity	g.chr11:5172693G>A	AF154673	CCDS31374.1	11p15.4	2012-08-09			ENSG00000182070	ENSG00000182070		"""GPCR / Class A : Olfactory receptors"""	8318	protein-coding gene	gene with protein product						10512676	Standard	NM_012375		Approved	HPFH1OR	uc010qyy.2	Q9UKL2	OTTHUMG00000066603	ENST00000380367.1:c.907C>T	11.37:g.5172693G>A	ENSP00000369725:p.Arg303Cys					OR52A1_ENST00000328942.1_Missense_Mutation_p.R303C	p.R303C			Q9UKL2	O52A1_HUMAN		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	1324	-		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)	303					Q6IF31	Missense_Mutation	SNP	ENST00000380367.1	37	c.907C>T	CCDS31374.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.244477	0.59103	0.0	1.16E-4	ENSG00000182070	ENST00000380367;ENST00000328942	T;T	0.58358	0.34;0.34	5.37	1.29	0.21616	.	0.139286	0.30742	N	0.008969	T	0.53997	0.1831	M	0.90145	3.09	0.18873	N	0.999984	B	0.19331	0.035	B	0.12837	0.008	T	0.56038	-0.8045	10	0.87932	D	0	.	5.937	0.19171	0.2218:0.0:0.6446:0.1336	.	303	Q9UKL2	O52A1_HUMAN	C	303	ENSP00000369725:R303C;ENSP00000333684:R303C	ENSP00000333684:R303C	R	-	1	0	OR52A1	5129269	0.000000	0.05858	0.021000	0.16686	0.744000	0.42396	0.238000	0.18004	0.414000	0.25790	0.655000	0.94253	CGC		0.358	OR52A1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142810.2	NM_012375		32	341	0	0	0	0.760397	0	32	341				
FDFT1	2222	broad.mit.edu	37	8	11667248	11667248	+	Silent	SNP	G	G	A			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr8:11667248G>A	ENST00000220584.4	+	3	492	c.270G>A	c.(268-270)gtG>gtA	p.V90V	FDFT1_ENST00000525900.1_Silent_p.V83V|FDFT1_ENST00000446331.2_Intron|FDFT1_ENST00000443614.2_Silent_p.V90V|FDFT1_ENST00000538689.1_5'UTR|FDFT1_ENST00000525777.1_Silent_p.V5V|FDFT1_ENST00000528812.1_Silent_p.V26V|FDFT1_ENST00000528643.1_Silent_p.V5V|FDFT1_ENST00000530664.1_Silent_p.V26V	NM_004462.3	NP_004453.3	P37268	FDFT_HUMAN	farnesyl-diphosphate farnesyltransferase 1	90					cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	farnesyl-diphosphate farnesyltransferase activity (GO:0004310)|oxidoreductase activity (GO:0016491)|squalene synthase activity (GO:0051996)	p.V90V(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)	12	all_epithelial(15;0.234)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.18)		CCATCAGTGTGGAAAAGAAGG	0.463																																						ENST00000220584.4																			1	Substitution - coding silent(1)	p.V90V(1)	prostate(1)	breast(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)	12						c.(268-270)gtG>gtA		farnesyl-diphosphate farnesyltransferase 1							139.0	116.0	124.0					8																	11667248		2203	4300	6503	SO:0001819	synonymous_variant	2222				cholesterol biosynthetic process|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	farnesyl-diphosphate farnesyltransferase activity|oxidoreductase activity|protein binding|squalene synthase activity	g.chr8:11667248G>A	X69141	CCDS5985.1, CCDS75696.1, CCDS75697.1	8p23.1-p22	2005-03-07			ENSG00000079459	ENSG00000079459	2.5.1.21		3629	protein-coding gene	gene with protein product	"""squalene synthase"""	184420					Standard	NM_001287742		Approved		uc003wui.3	P37268	OTTHUMG00000090801	ENST00000220584.4:c.270G>A	8.37:g.11667248G>A						FDFT1_ENST00000530664.1_Silent_p.V26V|FDFT1_ENST00000525777.1_Silent_p.V5V|FDFT1_ENST00000528643.1_Silent_p.V5V|FDFT1_ENST00000538689.1_5'UTR|FDFT1_ENST00000528812.1_Silent_p.V26V|FDFT1_ENST00000443614.2_Silent_p.V90V|FDFT1_ENST00000525900.1_Silent_p.V83V|FDFT1_ENST00000446331.2_Intron	p.V90V	NM_004462.3	NP_004453.3	P37268	FDFT_HUMAN	STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.18)	3	492	+	all_epithelial(15;0.234)		90					B3KQ95|B4DJE5|B4DT56|B7Z1J3|Q96GT0	Silent	SNP	ENST00000220584.4	37	c.270G>A	CCDS5985.1																																																																																				0.463	FDFT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207588.2			6	95	0	0	0	0.217242	0	6	95				
PIWIL2	55124	broad.mit.edu	37	8	22163488	22163488	+	Missense_Mutation	SNP	G	G	A	rs138817329	byFrequency	TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr8:22163488G>A	ENST00000454009.2	+	13	2013	c.1504G>A	c.(1504-1506)Gga>Aga	p.G502R	PIWIL2_ENST00000521356.1_Missense_Mutation_p.G502R|PIWIL2_ENST00000356766.6_Missense_Mutation_p.G502R	NM_001135721.1	NP_001129193.1	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	502					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ-line stem cell maintenance (GO:0030718)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|piRNA metabolic process (GO:0034587)|positive regulation of meiosis I (GO:0060903)|positive regulation of translation (GO:0045727)|RNA 5'-end processing (GO:0000966)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)	p.G502R(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		TTTTATGACCGGAATCCCAGA	0.468																																						ENST00000356766.6																			1	Substitution - Missense(1)	p.G502R(1)	prostate(1)	NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(1504-1506)Gga>Aga		piwi-like RNA-mediated gene silencing 2		G	ARG/GLY,ARG/GLY	0,4406		0,0,2203	133.0	128.0	130.0		1504,1504	5.6	1.0	8	dbSNP_134	130	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PIWIL2	NM_001135721.1,NM_018068.3	125,125	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	502/974,502/974	22163488	1,13005	2203	4300	6503	SO:0001583	missense	55124				DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding	g.chr8:22163488G>A	AK001213	CCDS6029.1	8p24	2013-02-15	2013-02-15		ENSG00000197181	ENSG00000197181		"""Argonaute/PIWI family"""	17644	protein-coding gene	gene with protein product	"""Hiwi-like"", ""cancer/testis antigen 80"""	610312	"""piwi-like 2 (Drosophila)"""			11279525, 12906857	Standard	NM_018068		Approved	HILI, FLJ10351, Mili, CT80	uc003xbn.2	Q8TC59	OTTHUMG00000097767	ENST00000454009.2:c.1504G>A	8.37:g.22163488G>A	ENSP00000406956:p.Gly502Arg					PIWIL2_ENST00000454009.2_Missense_Mutation_p.G502R|PIWIL2_ENST00000521356.1_Missense_Mutation_p.G502R	p.G502R	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN		Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)	13	1652	+			502					A8K4S3|A8K8S5|B0AZN9|B0AZP2|B4DR22|E7ECA4|Q96SW6|Q9NW28	Missense_Mutation	SNP	ENST00000454009.2	37	c.1504G>A	CCDS6029.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.802308	0.90538	0.0	1.16E-4	ENSG00000197181	ENST00000356766;ENST00000521356;ENST00000454009	T;T;T	0.15017	2.46;2.46;2.46	5.64	5.64	0.86602	Argonaute/Dicer protein, PAZ (3);	0.000000	0.85682	D	0.000000	T	0.57169	0.2035	H	0.95365	3.66	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.70554	-0.4840	10	0.87932	D	0	-2.5633	18.4726	0.90779	0.0:0.0:1.0:0.0	.	502;502	E7ECA4;Q8TC59	.;PIWL2_HUMAN	R	502	ENSP00000349208:G502R;ENSP00000428267:G502R;ENSP00000406956:G502R	ENSP00000349208:G502R	G	+	1	0	PIWIL2	22219433	1.000000	0.71417	1.000000	0.80357	0.769000	0.43574	9.041000	0.93788	2.637000	0.89404	0.563000	0.77884	GGA		0.468	PIWIL2-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000375438.1			33	93	0	0	0	0.779181	0	33	93				
CSMD3	114788	broad.mit.edu	37	8	113277665	113277665	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr8:113277665C>T	ENST00000297405.5	-	60	9907	c.9663G>A	c.(9661-9663)tgG>tgA	p.W3221*	CSMD3_ENST00000343508.3_Nonsense_Mutation_p.W3181*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.W3052*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.W3151*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3221	Sushi 24. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.W3221*(1)|p.T3214_W3221del(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTACTCCACTCCATGTGCCAT	0.338										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			2	Substitution - Nonsense(1)|Deletion - In frame(1)	p.W3221*(1)|p.T3214_W3221del(1)	prostate(1)|breast(1)	breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(9661-9663)tgG>tgA		CUB and Sushi multiple domains 3							162.0	144.0	150.0					8																	113277665		2203	4300	6503	SO:0001587	stop_gained	114788					integral to membrane|plasma membrane		g.chr8:113277665C>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.9663G>A	8.37:g.113277665C>T	ENSP00000297405:p.Trp3221*	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000343508.3_Nonsense_Mutation_p.W3181*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.W3151*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.W3052*	p.W3221*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			60	9907	-			3221			Sushi 24.		Q96PZ3	Nonsense_Mutation	SNP	ENST00000297405.5	37	c.9663G>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	51	18.348672	0.99903	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	.	.	.	5.44	5.44	0.79542	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.6111	0.95607	0.0:1.0:0.0:0.0	.	.	.	.	X	3181;3221;2491;3052;3151	.	ENSP00000297405:W3221X	W	-	3	0	CSMD3	113346841	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	7.776000	0.85560	2.714000	0.92807	0.585000	0.79938	TGG		0.338	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		104	288	0	0	0	0.870114	0	104	288				
CNTNAP5	129684	broad.mit.edu	37	2	125204422	125204422	+	Missense_Mutation	SNP	C	C	T	rs200941353		TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr2:125204422C>T	ENST00000431078.1	+	6	1190	c.826C>T	c.(826-828)Cgg>Tgg	p.R276W		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	276	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.R276W(3)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CCTCATTGAGCGGGTGGGCAA	0.597																																						ENST00000431078.1																			3	Substitution - Missense(3)	p.R276W(3)	prostate(2)|haematopoietic_and_lymphoid_tissue(1)	NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176						c.(826-828)Cgg>Tgg		contactin associated protein-like 5							89.0	92.0	91.0					2																	125204422		2170	4284	6454	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125204422C>T	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.826C>T	2.37:g.125204422C>T	ENSP00000399013:p.Arg276Trp						p.R276W	NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	6	1190	+			276			Laminin G-like 1.		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.826C>T	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.641623	0.47153	.	.	ENSG00000155052	ENST00000431078	D	0.81659	-1.52	5.87	1.9	0.25705	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.47455	D	0.000238	D	0.89012	0.6594	M	0.87617	2.895	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.87546	0.2462	10	0.72032	D	0.01	.	9.6821	0.40076	0.3478:0.5863:0.0:0.0658	.	276	Q8WYK1	CNTP5_HUMAN	W	276	ENSP00000399013:R276W	ENSP00000399013:R276W	R	+	1	2	CNTNAP5	124920892	1.000000	0.71417	0.535000	0.28026	0.083000	0.17756	2.522000	0.45572	0.130000	0.18549	-0.136000	0.14681	CGG		0.597	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			51	79	0	0	0	0.870114	0	51	79				
RYR3	6263	broad.mit.edu	37	15	33835896	33835896	+	Silent	SNP	C	C	T			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr15:33835896C>T	ENST00000389232.4	+	8	790	c.720C>T	c.(718-720)gaC>gaT	p.D240D	RYR3_ENST00000415757.3_Silent_p.D240D	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	240	MIR 3. {ECO:0000255|PROSITE- ProRule:PRU00131}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.D240D(2)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CATCTACAGACCAGAATGATT	0.398																																						ENST00000389232.4																			2	Substitution - coding silent(2)	p.D240D(2)	prostate(2)	NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(718-720)gaC>gaT		ryanodine receptor 3							239.0	226.0	230.0					15																	33835896		1948	4147	6095	SO:0001819	synonymous_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33835896C>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.720C>T	15.37:g.33835896C>T						RYR3_ENST00000415757.3_Silent_p.D240D	p.D240D	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	8	790	+		all_lung(180;7.18e-09)	240			MIR 3.		O15175|Q15412	Silent	SNP	ENST00000389232.4	37	c.720C>T	CCDS45210.1																																																																																				0.398	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			46	262	0	0	0	0.870114	0	46	262				
NHLH2	4808	broad.mit.edu	37	1	116380707	116380707	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr1:116380707G>T	ENST00000369506.1	-	1	5831	c.287C>A	c.(286-288)gCc>gAc	p.A96D	NHLH2_ENST00000320238.3_Missense_Mutation_p.A96D			Q02577	HEN2_HUMAN	nescient helix loop helix 2	96	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell differentiation (GO:0030154)|central nervous system development (GO:0007417)|mating behavior (GO:0007617)|ovulation cycle (GO:0042698)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)	p.A96D(1)		prostate(1)	1	Lung SC(450;0.184)	all_cancers(81;1.75e-06)|all_epithelial(167;1.16e-06)|all_lung(203;9.55e-06)|Lung NSC(69;5.83e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		CTCGGCGAAGGCCAAGTTGAA	0.672																																						ENST00000369506.1																			1	Substitution - Missense(1)	p.A96D(1)	prostate(1)	prostate(1)	1						c.(286-288)gCc>gAc		nescient helix loop helix 2							22.0	26.0	25.0					1																	116380707		2202	4300	6502	SO:0001583	missense	4808				cell differentiation|central nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr1:116380707G>T		CCDS885.1	1p12-p11	2013-05-21			ENSG00000177551	ENSG00000177551		"""Basic helix-loop-helix proteins"""	7818	protein-coding gene	gene with protein product		162361		HEN2		1528853	Standard	NM_005599		Approved	NSCL2, bHLHa34	uc001efy.3	Q02577	OTTHUMG00000011969	ENST00000369506.1:c.287C>A	1.37:g.116380707G>T	ENSP00000358519:p.Ala96Asp					NHLH2_ENST00000320238.3_Missense_Mutation_p.A96D	p.A96D			Q02577	HEN2_HUMAN		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)	1	5831	-	Lung SC(450;0.184)	all_cancers(81;1.75e-06)|all_epithelial(167;1.16e-06)|all_lung(203;9.55e-06)|Lung NSC(69;5.83e-05)	96			Helix-loop-helix motif.		Q5T1P6	Missense_Mutation	SNP	ENST00000369506.1	37	c.287C>A	CCDS885.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.590219	0.86851	.	.	ENSG00000177551	ENST00000320238;ENST00000369506;ENST00000429731	D;D;D	0.98329	-4.87;-4.87;-4.87	4.72	4.72	0.59763	Helix-loop-helix DNA-binding (5);	0.000000	0.64402	D	0.000001	D	0.99074	0.9682	M	0.91717	3.235	0.80722	D	1	D	0.64830	0.994	D	0.66716	0.946	D	0.99568	1.0970	10	0.87932	D	0	-12.1358	17.3086	0.87202	0.0:0.0:1.0:0.0	.	96	Q02577	HEN2_HUMAN	D	96	ENSP00000322087:A96D;ENSP00000358519:A96D;ENSP00000405062:A96D	ENSP00000322087:A96D	A	-	2	0	NHLH2	116182230	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.609000	0.98334	2.167000	0.68274	0.555000	0.69702	GCC		0.672	NHLH2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033090.1	NM_005599		3	14	1	0	0.115264	0.115264	0.119481	3	14				
VPS13C	54832	broad.mit.edu	37	15	62266506	62266506	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr15:62266506G>A	ENST00000261517.5	-	25	2592	c.2519C>T	c.(2518-2520)gCc>gTc	p.A840V	VPS13C_ENST00000395896.4_Missense_Mutation_p.A840V|VPS13C_ENST00000395898.3_Missense_Mutation_p.A797V|VPS13C_ENST00000249837.3_Missense_Mutation_p.A797V	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)									p.A840V(1)		NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TGGAGACTGGGCTGATGATTT	0.373																																						ENST00000261517.5																			1	Substitution - Missense(1)	p.A840V(1)	prostate(1)	NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(2518-2520)gCc>gTc		vacuolar protein sorting 13 homolog C (S. cerevisiae)							120.0	113.0	116.0					15																	62266506		2203	4300	6503	SO:0001583	missense	54832				protein localization			g.chr15:62266506G>A	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.2519C>T	15.37:g.62266506G>A	ENSP00000261517:p.Ala840Val					VPS13C_ENST00000249837.3_Missense_Mutation_p.A797V|VPS13C_ENST00000395898.3_Missense_Mutation_p.A797V|VPS13C_ENST00000395896.4_Missense_Mutation_p.A840V	p.A840V	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN			25	2592	-			840						Missense_Mutation	SNP	ENST00000261517.5	37	c.2519C>T	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	G	1.608	-0.524692	0.04141	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.46063	0.88;0.88;1.04	4.79	-0.563	0.11778	.	0.789478	0.11759	N	0.532285	T	0.20292	0.0488	N	0.17474	0.49	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.08055	0.003;0.002;0.001;0.001	T	0.19614	-1.0300	10	0.21540	T	0.41	.	3.4715	0.07569	0.3162:0.0:0.3915:0.2923	.	797;840;797;840	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	V	797;840;840;840	ENSP00000249837:A797V;ENSP00000261517:A840V;ENSP00000379233:A840V	ENSP00000249837:A797V	A	-	2	0	VPS13C	60053798	0.000000	0.05858	0.000000	0.03702	0.822000	0.46500	0.229000	0.17833	0.004000	0.14682	0.585000	0.79938	GCC		0.373	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		82	140	0	0	0	0.870114	0	82	140				
TDRKH	11022	broad.mit.edu	37	1	151751596	151751596	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr1:151751596C>G	ENST00000368822.1	-	5	1177	c.544G>C	c.(544-546)Gaa>Caa	p.E182Q	TDRKH_ENST00000368824.3_Missense_Mutation_p.E182Q|TDRKH_ENST00000368825.3_Missense_Mutation_p.E137Q|TDRKH_ENST00000484421.1_5'UTR|TDRKH_ENST00000440583.2_5'UTR|TDRKH_ENST00000368823.1_Missense_Mutation_p.E178Q|TDRKH_ENST00000458431.2_Missense_Mutation_p.E182Q|TDRKH_ENST00000368827.6_Missense_Mutation_p.E182Q			Q9Y2W6	TDRKH_HUMAN	tudor and KH domain containing	182	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|male meiosis (GO:0007140)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	mitochondrion (GO:0005739)|pi-body (GO:0071546)|piP-body (GO:0071547)	RNA binding (GO:0003723)	p.E182Q(1)		breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GCTGCCACTTCCTTCTGTGTT	0.398																																						ENST00000368822.1																			1	Substitution - Missense(1)	p.E182Q(1)	prostate(1)	breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(544-546)Gaa>Caa		tudor and KH domain containing							204.0	193.0	197.0					1																	151751596		1894	4114	6008	SO:0001583	missense	11022						RNA binding	g.chr1:151751596C>G	AF227192	CCDS41394.1, CCDS41395.1	1q21	2013-01-23	2003-11-07		ENSG00000182134	ENSG00000182134		"""Tudor domain containing"""	11713	protein-coding gene	gene with protein product		609501	"""tudor and KH domain containing"""			10767542	Standard	NM_001083964		Approved	TDRD2	uc001eza.4	Q9Y2W6	OTTHUMG00000013062	ENST00000368822.1:c.544G>C	1.37:g.151751596C>G	ENSP00000357812:p.Glu182Gln					TDRKH_ENST00000458431.2_Missense_Mutation_p.E182Q|TDRKH_ENST00000368823.1_Missense_Mutation_p.E178Q|TDRKH_ENST00000368825.3_Missense_Mutation_p.E137Q|TDRKH_ENST00000484421.1_5'UTR|TDRKH_ENST00000368824.3_Missense_Mutation_p.E182Q|TDRKH_ENST00000440583.2_5'UTR|TDRKH_ENST00000368827.6_Missense_Mutation_p.E182Q	p.E182Q			Q9Y2W6	TDRKH_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		5	1177	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		182			KH 2.		D3DV24|Q5SZR3|Q5SZR5|Q8N582|Q9NYV5	Missense_Mutation	SNP	ENST00000368822.1	37	c.544G>C	CCDS41394.1	.	.	.	.	.	.	.	.	.	.	C	14.42	2.531414	0.45073	.	.	ENSG00000182134	ENST00000368827;ENST00000368825;ENST00000368824;ENST00000368823;ENST00000368822;ENST00000458431	T;T;T;T;T;T	0.61980	1.66;0.06;1.66;1.66;1.66;1.66	5.72	5.72	0.89469	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.169611	0.50627	D	0.000116	T	0.33030	0.0849	N	0.01464	-0.85	0.80722	D	1	P;D;P	0.52996	0.911;0.957;0.775	P;P;P	0.59595	0.609;0.86;0.526	T	0.45381	-0.9265	10	0.08179	T	0.78	-18.8232	14.1077	0.65101	0.0:0.8495:0.1505:0.0	.	137;178;182	Q5SZR5;Q5SZR4;Q9Y2W6	.;.;TDRKH_HUMAN	Q	182;137;182;178;182;182	ENSP00000357819:E182Q;ENSP00000357817:E137Q;ENSP00000357815:E182Q;ENSP00000357813:E178Q;ENSP00000357812:E182Q;ENSP00000395718:E182Q	ENSP00000357812:E182Q	E	-	1	0	TDRKH	150018220	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.445000	0.52921	2.694000	0.91930	0.650000	0.86243	GAA		0.398	TDRKH-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000036648.2	NM_006862		98	293	0	0	0	0.870114	0	98	293				
MICAL2	9645	broad.mit.edu	37	11	12280080	12280080	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr11:12280080G>A	ENST00000256194.4	+	25	3496	c.3208G>A	c.(3208-3210)Gca>Aca	p.A1070T	RP11-265D17.2_ENST00000527288.1_RNA|MICAL2_ENST00000537344.1_Missense_Mutation_p.A880T|MICAL2_ENST00000379612.3_Missense_Mutation_p.A844T|MICAL2_ENST00000527546.1_Missense_Mutation_p.A880T|MICAL2_ENST00000342902.5_Missense_Mutation_p.A1049T	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	1070					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)	p.A1070T(1)		breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		GAAGAGACGGGCAGAGTTGAA	0.428																																						ENST00000256194.4																			1	Substitution - Missense(1)	p.A1070T(1)	prostate(1)	breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47						c.(3208-3210)Gca>Aca		microtubule associated monooxygenase, calponin and LIM domain containing 2							102.0	101.0	101.0					11																	12280080		2201	4294	6495	SO:0001583	missense	9645					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr11:12280080G>A	AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.3208G>A	11.37:g.12280080G>A	ENSP00000256194:p.Ala1070Thr					MICAL2_ENST00000379612.3_Missense_Mutation_p.A844T|MICAL2_ENST00000342902.5_Missense_Mutation_p.A1049T|MICAL2_ENST00000537344.1_Missense_Mutation_p.A880T|MICAL2_ENST00000527546.1_Missense_Mutation_p.A880T	p.A1070T	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN		Epithelial(150;0.00552)	25	3496	+			1070					B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Missense_Mutation	SNP	ENST00000256194.4	37	c.3208G>A	CCDS7809.1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.845156	0.51164	.	.	ENSG00000133816	ENST00000537344;ENST00000544073;ENST00000256194;ENST00000527546;ENST00000342902;ENST00000379612	T;T;T;T;T	0.62364	0.03;0.04;0.03;0.05;0.06	5.69	4.78	0.61160	.	0.000000	0.56097	D	0.000022	T	0.45577	0.1349	N	0.17082	0.46	0.25491	N	0.987642	B;B;B;B;B;B	0.20052	0.032;0.003;0.001;0.041;0.001;0.001	B;B;B;B;B;B	0.20384	0.019;0.007;0.003;0.029;0.004;0.004	T	0.44221	-0.9342	10	0.62326	D	0.03	.	10.3131	0.43721	0.1504:0.0:0.8496:0.0	.	413;1049;880;823;844;1070	B4DYS3;G3XAC8;B7Z849;Q5KTR3;Q5KTR4;O94851	.;.;.;.;.;MICA2_HUMAN	T	880;413;1070;880;1049;844	ENSP00000441689:A880T;ENSP00000256194:A1070T;ENSP00000433965:A880T;ENSP00000344894:A1049T;ENSP00000368932:A844T	ENSP00000256194:A1070T	A	+	1	0	MICAL2	12236656	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.647000	0.54403	1.410000	0.46936	0.655000	0.94253	GCA		0.428	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385993.1	NM_014632		50	81	0	0	0	0.870114	0	50	81				
TMEM130	222865	broad.mit.edu	37	7	98460809	98460809	+	Silent	SNP	G	G	A			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr7:98460809G>A	ENST00000416379.2	-	2	304	c.300C>T	c.(298-300)ccC>ccT	p.P100P	TMEM130_ENST00000345589.4_Intron|TMEM130_ENST00000339375.4_Silent_p.P100P|TMEM130_ENST00000546258.1_Silent_p.P81P|TMEM130_ENST00000450876.1_Silent_p.P16P			Q8N3G9	TM130_HUMAN	transmembrane protein 130	100						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.P100P(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GGAATTCCCCGGGCACGTGGC	0.637																																						ENST00000450876.1																			1	Substitution - coding silent(1)	p.P100P(1)	prostate(1)	breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25						c.(46-48)ccC>ccT		transmembrane protein 130							60.0	60.0	60.0					7																	98460809		2203	4300	6503	SO:0001819	synonymous_variant	222865					Golgi membrane|integral to membrane		g.chr7:98460809G>A		CCDS5658.1, CCDS47649.1, CCDS47650.1	7q22.1	2006-03-09			ENSG00000166448	ENSG00000166448			25429	protein-coding gene	gene with protein product						12975309	Standard	NM_152913		Approved	DKFZp761L1417, FLJ42643	uc003upo.3	Q8N3G9	OTTHUMG00000154419	ENST00000416379.2:c.300C>T	7.37:g.98460809G>A						TMEM130_ENST00000416379.2_Silent_p.P100P|TMEM130_ENST00000339375.4_Silent_p.P100P|TMEM130_ENST00000546258.1_Silent_p.P81P|TMEM130_ENST00000345589.4_Intron	p.P16P			Q8N3G9	TM130_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		2	1363	-	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		100					A4D266|B7Z364|Q8IY46|Q8N0W9|Q8N3R2	Silent	SNP	ENST00000416379.2	37	c.48C>T	CCDS47650.1																																																																																				0.637	TMEM130-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000380713.1	NM_152913		11	117	0	0	0	0.361761	0	11	117				
ZNF99	7652	broad.mit.edu	37	19	22939861	22939861	+	IGR	SNP	G	G	T			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr19:22939861G>T	ENST00000596209.1	-	0	2686				ZNF99_ENST00000397104.3_Missense_Mutation_p.H824N|CTC-451A6.4_ENST00000442497.2_lincRNA	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.H824N(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TCCCTAGTATGAATTAGCTTA	0.378																																						ENST00000397104.3																			1	Substitution - Missense(1)	p.H824N(1)	prostate(1)	NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124						c.(2470-2472)Cat>Aat		zinc finger protein 99							86.0	97.0	93.0					19																	22939861		2071	4235	6306	SO:0001628	intergenic_variant	7652							g.chr19:22939861G>T	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4			19.37:g.22939861G>T							p.H824N							6	2469	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.2470C>A	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	g	13.47	2.247426	0.39697	.	.	ENSG00000213973	ENST00000397104	T	0.67345	-0.26	1.37	1.37	0.22104	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.80287	0.4595	M	0.87180	2.865	0.33622	D	0.604923	P	0.48350	0.909	D	0.66084	0.941	T	0.82936	-0.0210	9	0.87932	D	0	.	7.7725	0.29017	0.0:0.0:1.0:0.0	.	824	A8MXY4	ZNF99_HUMAN	N	824	ENSP00000380293:H824N	ENSP00000380293:H824N	H	-	1	0	ZNF99	22731701	1.000000	0.71417	0.004000	0.12327	0.056000	0.15407	6.619000	0.74219	0.729000	0.32403	0.173000	0.16961	CAT		0.378	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		94	132	1	0	1.43847e-43	0.870114	1.94079e-43	94	132				
ABCC12	94160	broad.mit.edu	37	16	48121966	48121966	+	Missense_Mutation	SNP	C	C	T	rs200272726		TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr16:48121966C>T	ENST00000311303.3	-	25	3851	c.3506G>A	c.(3505-3507)cGt>cAt	p.R1169H	ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000448542.1_3'UTR|ABCC12_ENST00000532355.1_5'Flank	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	1169	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.R1169H(1)		NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				CTCCACCAGACGAAACAAAGC	0.433													C|||	1	0.000199681	0.0	0.0	5008	,	,		21404	0.0		0.0	False		,,,				2504	0.001					ENST00000311303.3																			1	Substitution - Missense(1)	p.R1169H(1)	prostate(1)	NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90						c.(3505-3507)cGt>cAt		ATP-binding cassette, sub-family C (CFTR/MRP), member 12							65.0	56.0	59.0					16																	48121966		2201	4300	6501	SO:0001583	missense	94160					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48121966C>T	AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.3506G>A	16.37:g.48121966C>T	ENSP00000311030:p.Arg1169His					ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000448542.1_3'UTR	p.R1169H	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN			25	3851	-		all_cancers(37;0.0474)|all_lung(18;0.047)	1169			ABC transporter 2.		Q49AL2|Q8TAF0|Q8TEY2	Missense_Mutation	SNP	ENST00000311303.3	37	c.3506G>A	CCDS10730.1	.	.	.	.	.	.	.	.	.	.	C	19.76	3.886991	0.72410	.	.	ENSG00000140798	ENST00000311303	D	0.92249	-3.0	5.93	3.99	0.46301	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.96306	0.8795	M	0.89785	3.06	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96138	0.9098	10	0.87932	D	0	.	11.7432	0.51804	0.0:0.8555:0.0:0.1445	.	1169	Q96J65	MRP9_HUMAN	H	1169	ENSP00000311030:R1169H	ENSP00000311030:R1169H	R	-	2	0	ABCC12	46679467	0.998000	0.40836	0.942000	0.38095	0.539000	0.34962	3.785000	0.55424	0.852000	0.35287	-0.137000	0.14449	CGT		0.433	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226		27	32	0	0	0	0.706142	0	27	32				
MTCL1	23255	broad.mit.edu	37	18	8825067	8825067	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr18:8825067C>A	ENST00000306329.11	+	13	4516	c.4516C>A	c.(4516-4518)Cag>Aag	p.Q1506K	SOGA2_ENST00000518815.1_Missense_Mutation_p.Q512K|SOGA2_ENST00000359865.3_Missense_Mutation_p.Q1187K|SOGA2_ENST00000306285.7_Missense_Mutation_p.Q512K|SOGA2_ENST00000400050.3_Missense_Mutation_p.Q1146K|SOGA2_ENST00000517570.1_Missense_Mutation_p.Q1146K														p.Q1187K(1)									CCTCACCGAGCAGTCGGGGTT	0.642																																						ENST00000359865.3																			1	Substitution - Missense(1)	p.Q1187K(1)	prostate(1)								c.(3559-3561)Cag>Aag		SOGA family member 2							55.0	41.0	45.0					18																	8825067		2196	4291	6487	SO:0001583	missense	23255							g.chr18:8825067C>A																												ENST00000306329.11:c.4516C>A	18.37:g.8825067C>A	ENSP00000305027:p.Gln1506Lys					SOGA2_ENST00000518815.1_Missense_Mutation_p.Q512K|SOGA2_ENST00000400050.3_Missense_Mutation_p.Q1146K|SOGA2_ENST00000517570.1_Missense_Mutation_p.Q1146K|SOGA2_ENST00000306329.11_Missense_Mutation_p.Q1506K|SOGA2_ENST00000306285.7_Missense_Mutation_p.Q512K	p.Q1187K	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN			15	3701	+			1497						Missense_Mutation	SNP	ENST00000306329.11	37	c.3559C>A		.	.	.	.	.	.	.	.	.	.	C	0.928	-0.713699	0.03206	.	.	ENSG00000168502	ENST00000306329;ENST00000517570;ENST00000359865;ENST00000400050;ENST00000306285	T;T;T;T	0.23348	1.91;1.91;1.91;1.91	5.44	2.27	0.28462	.	0.586782	0.14320	N	0.327080	T	0.12561	0.0305	N	0.20685	0.6	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.08055	0.002;0.003	T	0.34625	-0.9821	10	0.02654	T	1	-6.8369	8.6442	0.33996	0.5929:0.3052:0.1018:0.0	.	1497;1187	Q9Y4B5;Q9Y4B5-3	CC165_HUMAN;.	K	1208;1146;1187;1146;512	ENSP00000429556:Q1146K;ENSP00000352927:Q1187K;ENSP00000382924:Q1146K;ENSP00000303670:Q512K	ENSP00000303670:Q512K	Q	+	1	0	CCDC165	8815067	0.982000	0.34865	0.818000	0.32626	0.965000	0.64279	3.558000	0.53749	0.595000	0.29777	0.650000	0.86243	CAG		0.642	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1			17	62	1	0	7.45023e-12	0.592651	9.31278e-12	17	62				
ZNF213	7760	broad.mit.edu	37	16	3190970	3190970	+	Silent	SNP	G	G	A			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr16:3190970G>A	ENST00000396878.3	+	6	1477	c.1002G>A	c.(1000-1002)cgG>cgA	p.R334R	ZNF213_ENST00000574902.1_Silent_p.R334R|ZNF213_ENST00000416391.2_Silent_p.R176R|ZNF213_ENST00000576416.1_Silent_p.R334R	NM_001134655.1|NM_004220.2	NP_001128127.1|NP_004211.1	O14771	ZN213_HUMAN	zinc finger protein 213	334					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R334R(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						ACCTGGCGCGGCACCAGCGCA	0.697																																						ENST00000396878.3																			1	Substitution - coding silent(1)	p.R334R(1)	prostate(1)	haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						c.(1000-1002)cgG>cgA		zinc finger protein 213							17.0	18.0	18.0					16																	3190970		2195	4296	6491	SO:0001819	synonymous_variant	7760				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:3190970G>A	AF017433	CCDS10495.1	16p13.3	2014-05-13	2007-02-20	2007-02-20	ENSG00000085644	ENSG00000085644		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13005	protein-coding gene	gene with protein product		608387				9653642, 10023065	Standard	NM_004220		Approved	CR53, ZKSCAN21, ZSCAN53	uc010uws.2	O14771	OTTHUMG00000177519	ENST00000396878.3:c.1002G>A	16.37:g.3190970G>A						ZNF213_ENST00000574902.1_Silent_p.R334R|ZNF213_ENST00000416391.2_Silent_p.R176R|ZNF213_ENST00000576416.1_Silent_p.R334R	p.R334R	NM_001134655.1|NM_004220.2	NP_001128127.1|NP_004211.1	O14771	ZN213_HUMAN			6	1477	+			334					A8K1B9|B4DMG6|Q96IS1	Silent	SNP	ENST00000396878.3	37	c.1002G>A	CCDS10495.1																																																																																				0.697	ZNF213-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437334.1	NM_004220		3	20	0	0	0	0.115264	0	3	20				
TUBB8P7	197331	broad.mit.edu	37	16	90162513	90162513	+	RNA	SNP	T	T	C			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr16:90162513T>C	ENST00000564451.1	+	0	1866				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.N415N(2)									GCAACATGAATGACCTGGTGT	0.537																																						ENST00000567960.1																			2	Substitution - coding silent(2)	p.N415N(2)	prostate(1)|kidney(1)																																																0							g.chr16:90162513T>C			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162513T>C						TUBB8P7_ENST00000564451.1_RNA								0	1249	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.537	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		5	136	0	0	0	0.248553	0	5	136				
MLEC	9761	broad.mit.edu	37	12	121132062	121132062	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr12:121132062C>A	ENST00000228506.3	+	2	832	c.404C>A	c.(403-405)tCc>tAc	p.S135Y	RP11-173P15.3_ENST00000541383.1_RNA|MLEC_ENST00000412616.2_Missense_Mutation_p.S135Y	NM_014730.2	NP_055545.1	Q14165	MLEC_HUMAN	malectin	135					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|enzyme binding (GO:0019899)	p.S135Y(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						TTTGCACAGTCCCAGCAAAAG	0.522																																						ENST00000228506.3																			1	Substitution - Missense(1)	p.S135Y(1)	prostate(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						c.(403-405)tCc>tAc		malectin							85.0	76.0	79.0					12																	121132062		2203	4300	6503	SO:0001583	missense	9761				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	carbohydrate binding	g.chr12:121132062C>A	BC000371	CCDS9206.1	12q24.31	2013-03-06	2008-11-05	2008-11-05	ENSG00000110917	ENSG00000110917			28973	protein-coding gene	gene with protein product	"""oligosaccharyltransferase complex subunit (non-catalytic)"""	613802	"""KIAA0152"""	KIAA0152		18524852	Standard	NM_014730		Approved		uc001tyy.1	Q14165	OTTHUMG00000169187	ENST00000228506.3:c.404C>A	12.37:g.121132062C>A	ENSP00000228506:p.Ser135Tyr					MLEC_ENST00000412616.2_Missense_Mutation_p.S135Y	p.S135Y	NM_014730.2	NP_055545.1	Q14165	MLEC_HUMAN			2	832	+			135						Missense_Mutation	SNP	ENST00000228506.3	37	c.404C>A	CCDS9206.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.034872	0.75617	.	.	ENSG00000110917	ENST00000228506;ENST00000412616;ENST00000545525	.	.	.	5.5	4.59	0.56863	Malectin (1);	0.000000	0.85682	D	0.000000	T	0.77103	0.4081	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	T	0.80261	-0.1456	9	0.72032	D	0.01	.	15.865	0.79057	0.1366:0.8634:0.0:0.0	.	135	Q14165	MLEC_HUMAN	Y	135;135;52	.	ENSP00000228506:S135Y	S	+	2	0	MLEC	119616445	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.434000	0.80377	1.428000	0.47296	0.655000	0.94253	TCC		0.522	MLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402781.2	NM_014730		37	87	1	0	9.8876e-21	0.804634	1.3132e-20	37	87				
FAM163A	148753	broad.mit.edu	37	1	179782917	179782917	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr1:179782917T>C	ENST00000341785.4	+	5	493	c.97T>C	c.(97-99)Tac>Cac	p.Y33H	RP11-12M5.3_ENST00000415218.1_RNA|RP11-12M5.3_ENST00000453051.1_RNA	NM_173509.2	NP_775780.1	Q96GL9	F163A_HUMAN	family with sequence similarity 163, member A	33						integral component of membrane (GO:0016021)		p.Y33H(1)		endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)	15						CGCACAGTATTACTGCTGCAA	0.627																																						ENST00000341785.4																			1	Substitution - Missense(1)	p.Y33H(1)	prostate(1)	endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)	15						c.(97-99)Tac>Cac		family with sequence similarity 163, member A							37.0	35.0	36.0					1																	179782917		2203	4300	6503	SO:0001583	missense	148753					integral to membrane		g.chr1:179782917T>C	BC009382	CCDS1333.1	1q25.2	2008-06-05	2008-06-05	2008-06-05	ENSG00000143340	ENSG00000143340			28274	protein-coding gene	gene with protein product		611727	"""chromosome 1 open reading frame 76"""	C1orf76		12477932	Standard	NM_173509		Approved	MGC16664	uc001gnj.3	Q96GL9	OTTHUMG00000035262	ENST00000341785.4:c.97T>C	1.37:g.179782917T>C	ENSP00000354891:p.Tyr33His						p.Y33H	NM_173509.2	NP_775780.1	Q96GL9	F163A_HUMAN			5	493	+			33					A8K8R7	Missense_Mutation	SNP	ENST00000341785.4	37	c.97T>C	CCDS1333.1	.	.	.	.	.	.	.	.	.	.	T	19.34	3.808640	0.70797	.	.	ENSG00000143340	ENST00000341785	.	.	.	4.63	4.63	0.57726	.	0.138436	0.50627	D	0.000116	T	0.76652	0.4017	M	0.68593	2.085	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	T	0.79825	-0.1640	9	0.87932	D	0	-21.5553	14.0085	0.64481	0.0:0.0:0.0:1.0	.	33	Q96GL9	F163A_HUMAN	H	33	.	ENSP00000354891:Y33H	Y	+	1	0	FAM163A	178049540	1.000000	0.71417	1.000000	0.80357	0.548000	0.35241	7.214000	0.77958	1.860000	0.53959	0.379000	0.24179	TAC		0.627	FAM163A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085300.1	NM_173509		8	59	0	0	0	0.335167	0	8	59				
TECPR1	25851	broad.mit.edu	37	7	97851719	97851719	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr7:97851719C>T	ENST00000447648.2	-	22	3342	c.3043G>A	c.(3043-3045)Gtg>Atg	p.V1015M	TECPR1_ENST00000479975.1_5'UTR|TECPR1_ENST00000379795.3_Missense_Mutation_p.V1017M			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	1015					autophagic vacuole fusion (GO:0000046)|autophagy (GO:0006914)	autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	phosphatidylinositol-3-phosphate binding (GO:0032266)	p.V1016M(1)|p.V1015M(1)		central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GAGGGGTACACGGATCCCCGG	0.672																																						ENST00000447648.2																			2	Substitution - Missense(2)	p.V1016M(1)|p.V1015M(1)	prostate(2)	central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(3043-3045)Gtg>Atg		tectonin beta-propeller repeat containing 1							16.0	22.0	20.0					7																	97851719		2064	4188	6252	SO:0001583	missense	25851					integral to membrane	protein binding	g.chr7:97851719C>T		CCDS47648.1	7q21.3	2009-01-30			ENSG00000205356	ENSG00000205356			22214	protein-coding gene	gene with protein product		614781					Standard	NM_015395		Approved	DKFZP434B0335, FLJ23419, FLJ90593, KIAA1358	uc003upg.4	Q7Z6L1	OTTHUMG00000154273	ENST00000447648.2:c.3043G>A	7.37:g.97851719C>T	ENSP00000404923:p.Val1015Met					TECPR1_ENST00000379795.3_Missense_Mutation_p.V1017M|TECPR1_ENST00000479975.1_5'UTR	p.V1015M			Q7Z6L1	TCPR1_HUMAN			22	3342	-			1015					A8KAD1|B3KPZ1|C9J024|F5GX57|Q96EB0|Q9P2I9|Q9UFR6	Missense_Mutation	SNP	ENST00000447648.2	37	c.3043G>A	CCDS47648.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.544565	0.86022	.	.	ENSG00000205356	ENST00000447648;ENST00000379795	T;T	0.80214	-1.35;-1.35	4.7	4.7	0.59300	.	0.063706	0.64402	D	0.000008	D	0.87981	0.6315	M	0.63428	1.95	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	D	0.89196	0.3554	10	0.72032	D	0.01	-24.3322	16.8055	0.85626	0.0:1.0:0.0:0.0	.	1015	Q7Z6L1	TCPR1_HUMAN	M	1015;1017	ENSP00000404923:V1015M;ENSP00000369121:V1017M	ENSP00000369121:V1017M	V	-	1	0	TECPR1	97689655	1.000000	0.71417	0.959000	0.39883	0.578000	0.36192	7.624000	0.83124	2.443000	0.82685	0.655000	0.94253	GTG		0.672	TECPR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334661.1	NM_015395		6	10	0	0	0	0.217242	0	6	10				
WDR66	144406	broad.mit.edu	37	12	122396884	122396884	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr12:122396884G>C	ENST00000288912.4	+	13	2871	c.2017G>C	c.(2017-2019)Gtt>Ctt	p.V673L	WDR66_ENST00000397454.2_Missense_Mutation_p.V673L	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	673							calcium ion binding (GO:0005509)	p.V673L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		AGAGGGGACAGTTTACATTCT	0.423																																					Esophageal Squamous(85;849 1794 49757 52143)	ENST00000288912.4																			1	Substitution - Missense(1)	p.V673L(1)	prostate(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(2017-2019)Gtt>Ctt		WD repeat domain 66							142.0	133.0	136.0					12																	122396884		1867	4102	5969	SO:0001583	missense	144406						calcium ion binding	g.chr12:122396884G>C	AL833930	CCDS41853.1, CCDS53840.1	12q24.31	2014-07-31			ENSG00000158023	ENSG00000158023		"""WD repeat domain containing"""	28506	protein-coding gene	gene with protein product						17967944	Standard	NM_001178003		Approved	MGC33630, CaM-IP4	uc009zxk.3	Q8TBY9	OTTHUMG00000168948	ENST00000288912.4:c.2017G>C	12.37:g.122396884G>C	ENSP00000288912:p.Val673Leu					WDR66_ENST00000397454.2_Missense_Mutation_p.V673L	p.V673L	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)	13	2871	+	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)		673					C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Missense_Mutation	SNP	ENST00000288912.4	37	c.2017G>C	CCDS41853.1	.	.	.	.	.	.	.	.	.	.	G	16.56	3.156930	0.57259	.	.	ENSG00000158023	ENST00000288912;ENST00000397454	T;T	0.65916	0.92;-0.18	4.96	4.96	0.65561	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.065250	0.64402	D	0.000009	T	0.57417	0.2052	L	0.54323	1.7	0.41335	D	0.98726	B	0.31599	0.33	B	0.34093	0.175	T	0.57946	-0.7723	10	0.35671	T	0.21	.	12.3322	0.55046	0.0827:0.0:0.9173:0.0	.	673	Q8TBY9	WDR66_HUMAN	L	673	ENSP00000288912:V673L;ENSP00000380595:V673L	ENSP00000288912:V673L	V	+	1	0	WDR66	120881267	1.000000	0.71417	0.999000	0.59377	0.578000	0.36192	3.945000	0.56637	2.268000	0.75426	0.561000	0.74099	GTT		0.423	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401700.1	NM_144668		83	140	0	0	0	0.870114	0	83	140				
BRD1	23774	broad.mit.edu	37	22	50198006	50198006	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr22:50198006A>G	ENST00000216267.8	-	2	1856	c.1370T>C	c.(1369-1371)tTa>tCa	p.L457S	BRD1_ENST00000342989.5_Missense_Mutation_p.L52S|BRD1_ENST00000404034.1_Missense_Mutation_p.L457S|BRD1_ENST00000404760.1_Missense_Mutation_p.L457S|BRD1_ENST00000457780.2_Missense_Mutation_p.L457S|BRD1_ENST00000542442.1_Missense_Mutation_p.L150S	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	457					histone H3 acetylation (GO:0043966)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleus (GO:0005634)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		AATCCTATTTAACCTAAAACA	0.458																																						ENST00000216267.8																			0				endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37						c.(1369-1371)tTa>tCa		bromodomain containing 1							73.0	76.0	75.0					22																	50198006		2203	4300	6503	SO:0001583	missense	23774				histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding	g.chr22:50198006A>G	AF005067	CCDS14080.1	22q13.33	2008-07-01	2002-01-14		ENSG00000100425	ENSG00000100425			1102	protein-coding gene	gene with protein product	"""BR140-like"""	604589	"""bromodomain-containing 1"""			10591208, 10602503	Standard	NM_014577		Approved	BRL, BRPF2	uc003biv.3	O95696	OTTHUMG00000150288	ENST00000216267.8:c.1370T>C	22.37:g.50198006A>G	ENSP00000216267:p.Leu457Ser					BRD1_ENST00000404034.1_Missense_Mutation_p.L457S|BRD1_ENST00000342989.5_Missense_Mutation_p.L52S|BRD1_ENST00000542442.1_Missense_Mutation_p.L150S|BRD1_ENST00000457780.2_Missense_Mutation_p.L457S|BRD1_ENST00000404760.1_Missense_Mutation_p.L457S	p.L457S	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)	2	1856	-		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)	457					A6ZJA4	Missense_Mutation	SNP	ENST00000216267.8	37	c.1370T>C	CCDS14080.1	.	.	.	.	.	.	.	.	.	.	A	18.19	3.569565	0.65765	.	.	ENSG00000100425	ENST00000216267;ENST00000404034;ENST00000404760;ENST00000457780;ENST00000542442;ENST00000342989	T;T;T;T;T;T	0.33216	2.31;2.31;2.23;2.05;1.42;1.59	4.86	4.86	0.63082	.	0.302706	0.32386	N	0.006166	T	0.52789	0.1756	M	0.79926	2.475	0.54753	D	0.999987	D;D;D;D	0.67145	0.993;0.978;0.987;0.996	P;P;P;P	0.58660	0.701;0.762;0.556;0.843	T	0.60949	-0.7161	10	0.72032	D	0.01	.	14.4545	0.67407	1.0:0.0:0.0:0.0	.	457;52;457;457	Q86X06;B7Z926;O95696;O95696-2	.;.;BRD1_HUMAN;.	S	457;457;457;457;150;52	ENSP00000216267:L457S;ENSP00000384076:L457S;ENSP00000385858:L457S;ENSP00000410042:L457S;ENSP00000437514:L150S;ENSP00000345886:L52S	ENSP00000216267:L457S	L	-	2	0	BRD1	48584010	1.000000	0.71417	0.998000	0.56505	0.557000	0.35523	9.062000	0.93920	1.835000	0.53391	0.533000	0.62120	TTA		0.458	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317402.1	NM_014577		3	87	0	0	0	0.150653	0	3	87				
GABRE	2564	broad.mit.edu	37	X	151138738	151138738	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chrX:151138738C>T	ENST00000370328.3	-	2	246	c.193G>A	c.(193-195)Gtt>Att	p.V65I	GABRE_ENST00000370325.1_Missense_Mutation_p.V65I|GABRE_ENST00000393914.3_5'UTR	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	65					gamma-aminobutyric acid signaling pathway (GO:0007214)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.V65I(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AGTTTGCCAACTCTGCTCCCA	0.532																																						ENST00000370325.1																			1	Substitution - Missense(1)	p.V65I(1)	prostate(1)	breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27						c.(193-195)Gtt>Att		gamma-aminobutyric acid (GABA) A receptor, epsilon							171.0	153.0	159.0					X																	151138738		2203	4300	6503	SO:0001583	missense	2564				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chrX:151138738C>T	Y09765	CCDS14703.1	Xq28	2012-06-22			ENSG00000102287	ENSG00000102287		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4085	protein-coding gene	gene with protein product	"""GABA(A) receptor, epsilon"""	300093				9039914, 9084408	Standard	NM_004961		Approved		uc004ffi.3	P78334	OTTHUMG00000024176	ENST00000370328.3:c.193G>A	X.37:g.151138738C>T	ENSP00000359353:p.Val65Ile					GABRE_ENST00000393914.3_5'UTR|GABRE_ENST00000370328.3_Missense_Mutation_p.V65I	p.V65I			P78334	GBRE_HUMAN			2	246	-	Acute lymphoblastic leukemia(192;6.56e-05)		65					E7ET93|O15345|O15346|Q6PCD2|Q99520	Missense_Mutation	SNP	ENST00000370328.3	37	c.193G>A	CCDS14703.1	.	.	.	.	.	.	.	.	.	.	c	0.056	-1.235223	0.01505	.	.	ENSG00000102287	ENST00000370328;ENST00000370325	T;T	0.78595	-1.19;-0.61	3.89	-2.6	0.06190	.	2.246790	0.02296	N	0.070731	T	0.54615	0.1869	N	0.08118	0	0.09310	N	0.999999	B	0.22003	0.063	B	0.19666	0.026	T	0.37663	-0.9696	10	0.19590	T	0.45	.	3.1516	0.06490	0.2464:0.188:0.4603:0.1052	.	65	P78334	GBRE_HUMAN	I	65	ENSP00000359353:V65I;ENSP00000359350:V65I	ENSP00000359350:V65I	V	-	1	0	GABRE	150889394	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.472000	0.06623	-0.817000	0.04335	-0.223000	0.12442	GTT		0.532	GABRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060903.1	NM_004961, NM_021990, NM_021984		10	220	0	0	0	0.411799	0	10	220				
TCEB2	6923	broad.mit.edu	37	16	2827129	2827129	+	Splice_Site	SNP	C	C	T			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr16:2827129C>T	ENST00000409906.4	-	2	61		c.e2-1		TCEB2_ENST00000409477.1_5'UTR|TCEB2_ENST00000262306.7_Splice_Site|TCEB2_ENST00000572954.1_Splice_Site	NM_007108.3	NP_009039.1	Q15370	ELOB_HUMAN	transcription elongation factor B (SIII), polypeptide 2 (18kDa, elongin B)						cellular response to hypoxia (GO:0071456)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|protein complex assembly (GO:0006461)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul5-RING ubiquitin ligase complex (GO:0031466)|cytosol (GO:0005829)|elongin complex (GO:0070449)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	ubiquitin protein ligase binding (GO:0031625)	p.?(1)		endometrium(2)|prostate(1)	3						GGAACACGTCCTGGGGGCGGC	0.756																																					GBM(141;5215 5962)	ENST00000409906.4																			1	Unknown(1)	p.?(1)	prostate(1)	endometrium(2)|prostate(1)	3						c.e2-1		transcription elongation factor B (SIII), polypeptide 2 (18kDa, elongin B)							25.0	24.0	24.0					16																	2827129		2194	4296	6490	SO:0001630	splice_region_variant	6923				positive regulation of viral transcription|protein complex assembly|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|nucleoplasm	protein binding	g.chr16:2827129C>T	L42856	CCDS32374.1, CCDS45387.1	16p12.3	2008-02-05	2002-08-29		ENSG00000103363	ENSG00000103363			11619	protein-coding gene	gene with protein product		600787	"""transcription elongation factor B (SIII), polypeptide 2 (18kD, elongin B)"""			7638163	Standard	NM_007108		Approved	SIII	uc002crm.3	Q15370	OTTHUMG00000154125	ENST00000409906.4:c.4-1G>A	16.37:g.2827129C>T						TCEB2_ENST00000572954.1_Splice_Site|TCEB2_ENST00000262306.7_Splice_Site|TCEB2_ENST00000409477.1_5'UTR		NM_007108.3	NP_009039.1	Q15370	ELOB_HUMAN			2	61	-								B7WPD3	Splice_Site	SNP	ENST00000409906.4	37		CCDS45387.1	.	.	.	.	.	.	.	.	.	.	C	8.767	0.925096	0.18056	.	.	ENSG00000103363	ENST00000409906;ENST00000262306	.	.	.	3.81	2.82	0.32997	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.7367	0.34532	0.227:0.773:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TCEB2	2767130	1.000000	0.71417	0.911000	0.35937	0.741000	0.42261	5.669000	0.68081	0.686000	0.31488	0.460000	0.39030	.		0.756	TCEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333975.2	NM_007108	Intron	7	10	0	0	0	0.335167	0	7	10				
SPATA25	128497	broad.mit.edu	37	20	44515342	44515342	+	Silent	SNP	G	G	A			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr20:44515342G>A	ENST00000372519.3	-	2	542	c.498C>T	c.(496-498)acC>acT	p.T166T		NM_080608.3	NP_542175.1	Q9BR10	SPT25_HUMAN	spermatogenesis associated 25	166					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.T166T(1)									GGACGGGCACGGTGGGGATGC	0.642																																						ENST00000372519.3																			1	Substitution - coding silent(1)	p.T166T(1)	prostate(1)								c.(496-498)acC>acT		spermatogenesis associated 25							66.0	66.0	66.0					20																	44515342		2203	4300	6503	SO:0001819	synonymous_variant	128497					integral to membrane		g.chr20:44515342G>A	AL008726	CCDS13383.1	20q13.12	2011-11-24	2011-11-24	2011-11-24	ENSG00000149634	ENSG00000149634			16158	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 165"""	C20orf165		19240080	Standard	NM_080608		Approved	dJ337O18.8, TSG23	uc002xqf.3	Q9BR10	OTTHUMG00000032628	ENST00000372519.3:c.498C>T	20.37:g.44515342G>A							p.T166T	NM_080608.3	NP_542175.1	Q9BR10	CT165_HUMAN			2	542	-			166						Silent	SNP	ENST00000372519.3	37	c.498C>T	CCDS13383.1																																																																																				0.642	SPATA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079541.1			56	89	0	0	0	0.870114	0	56	89				
NR2F1	7025	broad.mit.edu	37	5	92923847	92923847	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr5:92923847G>A	ENST00000327111.3	+	2	2375	c.688G>A	c.(688-690)Gcc>Acc	p.A230T	NR2F1-AS1_ENST00000513055.1_RNA	NM_005654.4	NP_005645.1	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	230					cerebral cortex regionalization (GO:0021796)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|retinoic acid-responsive element binding (GO:0044323)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.A230T(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		GCTCTTCAGCGCCGTCGAGTG	0.637																																						ENST00000327111.3																			1	Substitution - Missense(1)	p.A230T(1)	prostate(1)	NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21						c.(688-690)Gcc>Acc		nuclear receptor subfamily 2, group F, member 1							79.0	77.0	77.0					5																	92923847		2203	4300	6503	SO:0001583	missense	7025				negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding	g.chr5:92923847G>A	BC004154	CCDS4068.1	5q14	2013-01-16			ENSG00000175745	ENSG00000175745		"""Nuclear hormone receptors"""	7975	protein-coding gene	gene with protein product		132890		ERBAL3, TFCOUP1		8530078	Standard	NM_005654		Approved	EAR-3, COUP-TFI, TCFCOUP1, SVP44	uc003kkj.3	P10589	OTTHUMG00000119079	ENST00000327111.3:c.688G>A	5.37:g.92923847G>A	ENSP00000325819:p.Ala230Thr						p.A230T	NM_005654.4	NP_005645.1	P10589	COT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)	2	2375	+		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)	230						Missense_Mutation	SNP	ENST00000327111.3	37	c.688G>A	CCDS4068.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.027109	0.75390	.	.	ENSG00000175745	ENST00000327111	D	0.96136	-3.92	4.47	4.47	0.54385	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.95059	0.8400	N	0.20845	0.615	0.80722	D	1	D	0.71674	0.998	D	0.65573	0.936	D	0.95464	0.8545	10	0.46703	T	0.11	.	17.3064	0.87196	0.0:0.0:1.0:0.0	.	230	P10589	COT1_HUMAN	T	230	ENSP00000325819:A230T	ENSP00000325819:A230T	A	+	1	0	NR2F1	92949603	1.000000	0.71417	1.000000	0.80357	0.413000	0.31143	7.695000	0.84257	2.292000	0.77174	0.407000	0.27541	GCC		0.637	NR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239293.2	NM_005654		14	105	0	0	0	0.435327	0	14	105				
CTC-260E6.6	0	broad.mit.edu	37	19	20370043	20370043	+	RNA	SNP	C	C	T	rs116773809	byFrequency	TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr19:20370043C>T	ENST00000593655.1	-	0	199																											AAGGATGATGCGGAAAAACTT	0.423													T|||	63	0.0125799	0.0477	0.0	5008	,	,		20673	0.0		0.0	False		,,,				2504	0.0					ENST00000593655.1																			0																																																			0							g.chr19:20370043C>T																													19.37:g.20370043C>T														0	199	-									RNA	SNP	ENST00000593655.1	37																																																																																						0.423	CTC-260E6.6-006	KNOWN	basic	antisense	antisense	OTTHUMT00000462901.1			9	95	0	0	0	0.307466	0	9	95				
HSF4	3299	broad.mit.edu	37	16	67199716	67199716	+	Silent	SNP	C	C	A			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr16:67199716C>A	ENST00000521374.1	+	3	327	c.327C>A	c.(325-327)ggC>ggA	p.G109G	HSF4_ENST00000584272.1_Silent_p.G109G|HSF4_ENST00000264009.8_Silent_p.G109G|HSF4_ENST00000421453.1_Silent_p.G109G			Q9ULV5	HSF4_HUMAN	heat shock transcription factor 4	109					camera-type eye development (GO:0043010)|cell development (GO:0048468)|histone H3-K9 demethylation (GO:0033169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotrimerization (GO:0070207)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.G109G(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		TCGTGCGCGGCCGCGAGCAGC	0.692																																						ENST00000264009.8																			1	Substitution - coding silent(1)	p.G109G(1)	prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	12						c.(325-327)ggC>ggA		heat shock transcription factor 4							9.0	13.0	12.0					16																	67199716		1905	4026	5931	SO:0001819	synonymous_variant	3299				response to stress	nucleus	sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr16:67199716C>A	D87673	CCDS42175.1, CCDS45510.1	16q21	2013-01-22			ENSG00000102878	ENSG00000102878			5227	protein-coding gene	gene with protein product		602438	"""cataract, Marner"""	CTM		8972228, 10488131, 12089525	Standard	NM_001538		Approved		uc002erl.2	Q9ULV5	OTTHUMG00000178325	ENST00000521374.1:c.327C>A	16.37:g.67199716C>A						HSF4_ENST00000521374.1_Silent_p.G109G|RP11-5A19.5_ENST00000518753.1_3'UTR|HSF4_ENST00000584272.1_Silent_p.G109G|HSF4_ENST00000421453.1_Silent_p.G109G	p.G109G	NM_001040667.2	NP_001035757.1	Q9ULV5	HSF4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)	5	1292	+		Ovarian(137;0.0563)	109					Q99472|Q9ULV6	Silent	SNP	ENST00000521374.1	37	c.327C>A	CCDS42175.1																																																																																				0.692	HSF4-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375080.1	NM_001538		5	16	1	0	0.000602214	0.184627	0.00068251	5	16				
TTLL11	158135	broad.mit.edu	37	9	124751554	124751554	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr9:124751554C>A	ENST00000373776.3	-	4	1646	c.1459G>T	c.(1459-1461)Gtc>Ttc	p.V487F	TTLL11_ENST00000474723.1_5'UTR|TTLL11_ENST00000321582.5_Missense_Mutation_p.V487F	NM_194252.2	NP_919228.2	Q8NHH1	TTL11_HUMAN	tubulin tyrosine ligase-like family, member 11	487	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)	p.V487F(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						AGCGCGATGACCGTCTTAATC	0.532																																						ENST00000321582.5																			1	Substitution - Missense(1)	p.V487F(1)	prostate(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						c.(1459-1461)Gtc>Ttc		tubulin tyrosine ligase-like family, member 11							142.0	134.0	137.0					9																	124751554		2203	4300	6503	SO:0001583	missense	158135				protein modification process	cilium|microtubule basal body	tubulin-tyrosine ligase activity	g.chr9:124751554C>A	AF521886	CCDS6834.2, CCDS48012.1	9q34.11	2013-02-14	2005-07-28	2005-07-28	ENSG00000175764	ENSG00000175764		"""Tubulin tyrosine ligase-like family"""	18113	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 20"""	C9orf20		15890843	Standard	NM_001139442		Approved	bA244O19.1	uc011lyl.2	Q8NHH1	OTTHUMG00000020597	ENST00000373776.3:c.1459G>T	9.37:g.124751554C>A	ENSP00000362881:p.Val487Phe					TTLL11_ENST00000474723.1_5'UTR|TTLL11_ENST00000373776.3_Missense_Mutation_p.V487F	p.V487F	NM_001139442.1	NP_001132914.1	Q8NHH1	TTL11_HUMAN			4	1646	-			487			TTL.			Missense_Mutation	SNP	ENST00000373776.3	37	c.1459G>T	CCDS6834.2	.	.	.	.	.	.	.	.	.	.	C	17.14	3.312773	0.60414	.	.	ENSG00000175764	ENST00000321582;ENST00000373778;ENST00000373776	T;T	0.05081	3.5;3.5	5.74	4.84	0.62591	.	0.352172	0.30134	N	0.010340	T	0.10508	0.0257	N	0.21240	0.645	0.41768	D	0.98975	D;D	0.58620	0.963;0.983	P;D	0.65684	0.725;0.937	T	0.03112	-1.1071	10	0.59425	D	0.04	.	6.2258	0.20708	0.0:0.7681:0.0:0.2319	.	487;487	F8W6M1;Q8NHH1	.;TTL11_HUMAN	F	487;138;487	ENSP00000321346:V487F;ENSP00000362881:V487F	ENSP00000321346:V487F	V	-	1	0	TTLL11	123791375	0.928000	0.31464	0.996000	0.52242	0.747000	0.42532	1.860000	0.39428	2.716000	0.92895	0.650000	0.86243	GTC		0.532	TTLL11-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053907.1	XM_088486		25	239	1	0	5.61819e-17	0.693898	7.34686e-17	25	239				
CHRM4	1132	broad.mit.edu	37	11	46407006	46407006	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr11:46407006G>T	ENST00000433765.2	-	1	1101	c.1102C>A	c.(1102-1104)Cgc>Agc	p.R368S		NM_000741.2	NP_000732.2	P08173	ACM4_HUMAN	cholinergic receptor, muscarinic 4	368					adenylate cyclase-inhibiting G-protein coupled acetylcholine receptor signaling pathway (GO:0007197)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|regulation of locomotion (GO:0040012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)	p.R368S(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Darifenacin(DB00496)|Desipramine(DB01151)|Doxepin(DB01142)|Fesoterodine(DB06702)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paroxetine(DB00715)|Pethidine(DB00454)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Tolterodine(DB01036)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	GCCGCAGGGCGCATGCCAGCC	0.627																																					Esophageal Squamous(171;1020 1936 4566 30205 42542)	ENST00000433765.2																			1	Substitution - Missense(1)	p.R368S(1)	prostate(1)	breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20						c.(1102-1104)Cgc>Agc		cholinergic receptor, muscarinic 4	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)						99.0	109.0	106.0					11																	46407006		2130	4226	6356	SO:0001583	missense	1132				cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity	g.chr11:46407006G>T	M16405	CCDS44581.1	11p12-p11.2	2012-08-08			ENSG00000180720	ENSG00000180720		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1953	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 4"""	118495				1577490	Standard	NM_000741		Approved		uc001nct.1	P08173	OTTHUMG00000154371	ENST00000433765.2:c.1102C>A	11.37:g.46407006G>T	ENSP00000409378:p.Arg368Ser						p.R368S	NM_000741.2	NP_000732.2	P08173	ACM4_HUMAN		GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	1	1101	-			368					B2RPP4|Q0VD60|Q4VBK7	Missense_Mutation	SNP	ENST00000433765.2	37	c.1102C>A	CCDS44581.1	.	.	.	.	.	.	.	.	.	.	g	6.362	0.434873	0.12045	.	.	ENSG00000180720	ENST00000433765	T	0.59083	0.29	4.44	4.44	0.53790	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.49287	0.1548	L	0.48260	1.515	0.48762	D	0.999702	P	0.34699	0.464	B	0.37989	0.262	T	0.37753	-0.9692	9	0.16896	T	0.51	-21.0621	10.8456	0.46741	0.0868:0.0:0.9132:0.0	.	368	P08173	ACM4_HUMAN	S	368	ENSP00000409378:R368S	ENSP00000409378:R368S	R	-	1	0	CHRM4	46363582	1.000000	0.71417	1.000000	0.80357	0.383000	0.30230	5.336000	0.65935	2.307000	0.77673	0.457000	0.33378	CGC		0.627	CHRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334985.1	NM_000741		7	75	1	0	3.27435e-08	0.457914	4.03362e-08	7	75				
PLK4	10733	broad.mit.edu	37	4	128814966	128814966	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr4:128814966G>A	ENST00000270861.5	+	13	2766	c.2492G>A	c.(2491-2493)aGa>aAa	p.R831K	RNU6-583P_ENST00000516012.1_RNA|PLK4_ENST00000513090.1_Missense_Mutation_p.R799K|PLK4_ENST00000514379.1_Missense_Mutation_p.R790K|PLK4_ENST00000515069.1_Missense_Mutation_p.R753K|PLK4_ENST00000507249.1_Missense_Mutation_p.R770K	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	831					centriole replication (GO:0007099)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of centriole replication (GO:0046601)|protein phosphorylation (GO:0006468)|trophoblast giant cell differentiation (GO:0060707)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R831K(2)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						ACGAGAGAGAGAGCATCTTTC	0.418																																					Colon(135;508 1718 19061 31832 42879)	ENST00000270861.5																			2	Substitution - Missense(2)	p.R831K(2)	prostate(2)	central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(2491-2493)aGa>aAa		polo-like kinase 4							110.0	109.0	109.0					4																	128814966		2203	4300	6503	SO:0001583	missense	0				G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr4:128814966G>A	Y13115	CCDS3735.1, CCDS54803.1, CCDS54804.1	4q27-q28	2013-01-18	2010-06-24	2004-01-28	ENSG00000142731	ENSG00000142731			11397	protein-coding gene	gene with protein product		605031	"""serine/threonine kinase 18"", ""polo-like kinase 4 (Drosophila)"""	STK18			Standard	NM_014264		Approved	Sak	uc003ifo.3	O00444	OTTHUMG00000133301	ENST00000270861.5:c.2492G>A	4.37:g.128814966G>A	ENSP00000270861:p.Arg831Lys					PLK4_ENST00000513090.1_Missense_Mutation_p.R799K|PLK4_ENST00000514379.1_Missense_Mutation_p.R790K|PLK4_ENST00000507249.1_Missense_Mutation_p.R770K|PLK4_ENST00000515069.1_Missense_Mutation_p.R753K	p.R831K	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN			13	2766	+			831					B2RAL0|B7Z837|B7Z8G7|Q8IYF0|Q96Q95|Q9UD84|Q9UDE2	Missense_Mutation	SNP	ENST00000270861.5	37	c.2492G>A	CCDS3735.1	.	.	.	.	.	.	.	.	.	.	G	1.774	-0.483697	0.04383	.	.	ENSG00000142731	ENST00000270861;ENST00000515069;ENST00000513090;ENST00000507249;ENST00000514379;ENST00000508113	T;T;T;T;T;T	0.66815	-0.09;-0.08;-0.23;-0.08;-0.16;1.0	4.22	-2.51	0.06365	.	1.696960	0.03229	N	0.178719	T	0.50446	0.1616	N	0.22421	0.69	0.09310	N	1	B;B	0.18461	0.028;0.007	B;B	0.18263	0.021;0.009	T	0.29212	-1.0019	10	0.30854	T	0.27	0.0884	7.2048	0.25901	0.0892:0.6169:0.1353:0.1586	.	799;831	O00444-2;O00444	.;PLK4_HUMAN	K	831;753;799;770;790;77	ENSP00000270861:R831K;ENSP00000421774:R753K;ENSP00000427554:R799K;ENSP00000423412:R770K;ENSP00000423582:R790K;ENSP00000427568:R77K	ENSP00000270861:R831K	R	+	2	0	PLK4	129034416	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.460000	0.02368	-0.535000	0.06307	0.591000	0.81541	AGA		0.418	PLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257095.3			9	306	0	0	0	0.307466	0	9	306				
HCRTR2	3062	broad.mit.edu	37	6	55039530	55039530	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr6:55039530C>A	ENST00000370862.3	+	1	481	c.145C>A	c.(145-147)Cac>Aac	p.H49N		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	49					circadian sleep/wake cycle process (GO:0022410)|feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|orexin receptor activity (GO:0016499)			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GGAATACCTGCACCCGAAAGA	0.552																																						ENST00000370862.3																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						c.(145-147)Cac>Aac		hypocretin (orexin) receptor 2							151.0	128.0	136.0					6																	55039530		2203	4300	6503	SO:0001583	missense	3062				feeding behavior	integral to plasma membrane	neuropeptide receptor activity	g.chr6:55039530C>A	AF041245	CCDS4956.1	6p12.1	2012-09-20			ENSG00000137252	ENSG00000137252		"""GPCR / Class A : Hypocretin (orexin) receptors"""	4849	protein-coding gene	gene with protein product		602393				9491897	Standard	NM_001526		Approved	OX2R	uc003pcl.3	O43614	OTTHUMG00000016150	ENST00000370862.3:c.145C>A	6.37:g.55039530C>A	ENSP00000359899:p.His49Asn						p.H49N	NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		1	481	+	Lung NSC(77;0.107)|Renal(3;0.122)		49					Q5VTM0	Missense_Mutation	SNP	ENST00000370862.3	37	c.145C>A	CCDS4956.1	.	.	.	.	.	.	.	.	.	.	C	16.79	3.221600	0.58560	.	.	ENSG00000137252	ENST00000370862	T	0.61510	0.1	5.33	4.47	0.54385	.	0.103785	0.64402	D	0.000004	T	0.36771	0.0979	L	0.50333	1.59	0.80722	D	1	B	0.24823	0.112	B	0.27887	0.084	T	0.26360	-1.0105	10	0.29301	T	0.29	.	14.1985	0.65686	0.0:0.9276:0.0:0.0724	.	49	O43614	OX2R_HUMAN	N	49	ENSP00000359899:H49N	ENSP00000359899:H49N	H	+	1	0	HCRTR2	55147489	1.000000	0.71417	0.940000	0.37924	0.984000	0.73092	4.608000	0.61141	1.255000	0.44051	-0.244000	0.11960	CAC		0.552	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043392.1			6	207	1	0	0.00198382	0.248553	0.00216185	6	207				
OR4C16	219428	broad.mit.edu	37	11	55339695	55339695	+	Missense_Mutation	SNP	G	G	A	rs374191202		TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr11:55339695G>A	ENST00000314634.3	+	1	92	c.92G>A	c.(91-93)cGt>cAt	p.R31H		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	31						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R31H(2)|p.R31L(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				ATTTTTTTGCGTCTCTACTTG	0.368													g|||	1	0.000199681	0.0	0.0	5008	,	,		18843	0.0		0.0	False		,,,				2504	0.001					ENST00000314634.3																			3	Substitution - Missense(3)	p.R31H(2)|p.R31L(1)	prostate(2)|lung(1)	central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(91-93)cGt>cAt		olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)							189.0	177.0	181.0					11																	55339695		2201	4296	6497	SO:0001583	missense	219428				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55339695G>A	AB065773	CCDS31502.1	11q11	2013-10-10	2013-10-10		ENSG00000181935	ENSG00000181935		"""GPCR / Class A : Olfactory receptors"""	15172	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily C, member 16"""				Standard	NM_001004701		Approved		uc010rih.2	Q8NGL9	OTTHUMG00000165198	ENST00000314634.3:c.92G>A	11.37:g.55339695G>A	ENSP00000324913:p.Arg31His						p.R31H	NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN			1	92	+		all_epithelial(135;0.0748)	31					Q6IEV8	Missense_Mutation	SNP	ENST00000314634.3	37	c.92G>A	CCDS31502.1	.	.	.	.	.	.	.	.	.	.	G	11.03	1.519004	0.27211	.	.	ENSG00000181935	ENST00000314634	T	0.00438	7.42	4.98	3.85	0.44370	.	2.239510	0.01631	N	0.023546	T	0.00300	0.0009	N	0.14661	0.345	0.09310	N	1	B	0.25351	0.124	B	0.12837	0.008	T	0.47156	-0.9139	10	0.87932	D	0	.	9.0123	0.36148	0.0:0.0:0.1863:0.8137	.	31	Q8NGL9	OR4CG_HUMAN	H	31	ENSP00000324913:R31H	ENSP00000324913:R31H	R	+	2	0	OR4C16	55096271	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-0.003000	0.12901	0.915000	0.36847	-0.425000	0.05940	CGT		0.368	OR4C16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382627.1	NM_001004701		79	204	0	0	0	0.870114	0	79	204				
SKIV2L2	23517	broad.mit.edu	37	5	54603876	54603876	+	Missense_Mutation	SNP	T	T	A			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr5:54603876T>A	ENST00000230640.5	+	1	289	c.35T>A	c.(34-36)gTg>gAg	p.V12E	DHX29_ENST00000251636.5_5'Flank|SKIV2L2_ENST00000504388.1_3'UTR|SKIV2L2_ENST00000545714.1_5'UTR	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	12					maturation of 5.8S rRNA (GO:0000460)|mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)	p.V12E(1)		NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				CTGTTCAGCGTGTTCGAGGGC	0.582																																					Melanoma(2;92 134 23744 29976 33782)	ENST00000230640.5																			1	Substitution - Missense(1)	p.V12E(1)	prostate(1)	NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(34-36)gTg>gAg		superkiller viralicidic activity 2-like 2 (S. cerevisiae)							102.0	92.0	96.0					5																	54603876		2203	4300	6503	SO:0001583	missense	23517				maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr5:54603876T>A	D29641	CCDS3967.1	5q11.2	2008-11-25	2005-02-18	2005-02-18	ENSG00000039123	ENSG00000039123			18734	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 118"""		"""KIAA0052"""	KIAA0052			Standard	NM_015360		Approved	Mtr4, Dob1, fSAP118	uc003jpy.4	P42285	OTTHUMG00000097019	ENST00000230640.5:c.35T>A	5.37:g.54603876T>A	ENSP00000230640:p.Val12Glu					SKIV2L2_ENST00000504388.1_3'UTR|SKIV2L2_ENST00000545714.1_5'UTR	p.V12E	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN			1	289	+		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)	12					Q2M386|Q6MZZ8|Q6P170|Q8N5R0|Q8TAG2	Missense_Mutation	SNP	ENST00000230640.5	37	c.35T>A	CCDS3967.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.329389	0.81690	.	.	ENSG00000039123	ENST00000230640	T	0.36699	1.24	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.39655	0.1086	M	0.64404	1.975	0.80722	D	1	P	0.35575	0.51	B	0.37144	0.242	T	0.40905	-0.9538	10	0.87932	D	0	.	13.7443	0.62865	0.0:0.0:0.0:1.0	.	12	P42285	SK2L2_HUMAN	E	12	ENSP00000230640:V12E	ENSP00000230640:V12E	V	+	2	0	SKIV2L2	54639633	1.000000	0.71417	1.000000	0.80357	0.492000	0.33523	4.553000	0.60753	2.254000	0.74563	0.459000	0.35465	GTG		0.582	SKIV2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214108.1			23	110	0	0	0	0.624587	0	23	110				
STRC	161497	broad.mit.edu	37	15	43896963	43896963	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr15:43896963G>A	ENST00000450892.2	-	20	4089	c.4012C>T	c.(4012-4014)Cga>Tga	p.R1338*	RNU6-554P_ENST00000410466.1_RNA|STRC_ENST00000541030.1_Nonsense_Mutation_p.R565*	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin	1338					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)		p.R1338*(1)		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)		GGGATCTGTCGTGTGCTCTCT	0.552																																						ENST00000450892.2																			1	Substitution - Nonsense(1)	p.R1338*(1)	prostate(1)	skin(4)	4						c.(4012-4014)Cga>Tga		stereocilin							32.0	32.0	32.0					15																	43896963		2199	4293	6492	SO:0001587	stop_gained	161497				sensory perception of sound	cell surface		g.chr15:43896963G>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.4012C>T	15.37:g.43896963G>A	ENSP00000401513:p.Arg1338*					STRC_ENST00000541030.1_Nonsense_Mutation_p.R565*	p.R1338*	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN		GBM - Glioblastoma multiforme(94;3.56e-07)	20	4089	-		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)	1338						Nonsense_Mutation	SNP	ENST00000450892.2	37	c.4012C>T	CCDS10098.1	.	.	.	.	.	.	.	.	.	.	G	40	8.002301	0.98605	.	.	ENSG00000242866	ENST00000450892;ENST00000299992;ENST00000541030	.	.	.	5.63	0.933	0.19471	.	0.241827	0.27871	N	0.017514	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	-8.7215	7.5989	0.28065	0.0:0.2008:0.3769:0.4223	.	.	.	.	X	1338;1338;565	.	ENSP00000299992:R1338X	R	-	1	2	STRC	41684255	0.856000	0.29760	0.984000	0.44739	0.964000	0.63967	0.557000	0.23454	0.360000	0.24265	-1.426000	0.01102	CGA		0.552	STRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133140.1	NM_153700		44	50	0	0	0	0.870114	0	44	50				
SMARCB1	6598	broad.mit.edu	37	22	24145587	24145587	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr22:24145587C>A	ENST00000263121.7	+	5	802	c.606C>A	c.(604-606)gaC>gaA	p.D202E	SMARCB1_ENST00000344921.6_Missense_Mutation_p.D211E|SMARCB1_ENST00000407422.3_Missense_Mutation_p.D193E|SMARCB1_ENST00000407082.3_Missense_Mutation_p.D156E	NM_003073.3	NP_003064.2	Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	202	2 X approximate tandem repeats.|HIV-1 integrase-binding.|MYC-binding.				ATP-dependent chromatin remodeling (GO:0043044)|blastocyst hatching (GO:0001835)|cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|DNA integration (GO:0015074)|DNA repair (GO:0006281)|mitotic cell cycle phase transition (GO:0044772)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	p53 binding (GO:0002039)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)	p.?(6)|p.D211E(1)|p.D202E(1)|p.A203fs*13(1)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				AGCTGCGAGACGCCTTCACCT	0.602			"""D, N, F, S"""		malignant rhabdoid	malignant rhabdoid																																ENST00000344921.6			yes	Rec	yes	Rhabdoid predisposition syndrome	22	22q11	6598	"""D, N, F, S"""	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1"""			M		malignant rhabdoid	malignant rhabdoid		9	Unknown(3)|Deletion - Frameshift(3)|Substitution - Missense(2)|Insertion - Frameshift(1)	p.?(6)|p.D211E(1)|p.D202E(1)|p.A203fs*13(1)	soft_tissue(5)|prostate(2)|central_nervous_system(2)	bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458						c.(631-633)gaC>gaA		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1							90.0	80.0	84.0					22																	24145587		2203	4300	6503	SO:0001583	missense	6598				cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex	p53 binding	g.chr22:24145587C>A	U04847	CCDS13817.1, CCDS46671.1	22q11.23	2014-09-17			ENSG00000099956	ENSG00000099956			11103	protein-coding gene	gene with protein product	"""sucrose nonfermenting, yeast, homolog-like 1"", ""integrase interactor 1"", ""malignant rhabdoid tumor suppressor"", ""protein phosphatase 1, regulatory subunit 144"""	601607		SNF5L1		7801128, 10319872, 10365963	Standard	NM_003073		Approved	BAF47, Ini1, Snr1, hSNFS, Sfh1p, RDT, PPP1R144	uc002zyb.3	Q12824	OTTHUMG00000150737	ENST00000263121.7:c.606C>A	22.37:g.24145587C>A	ENSP00000263121:p.Asp202Glu					SMARCB1_ENST00000407082.3_Missense_Mutation_p.D156E|SMARCB1_ENST00000407422.3_Missense_Mutation_p.D193E|SMARCB1_ENST00000263121.7_Missense_Mutation_p.D202E	p.D211E			Q12824	SNF5_HUMAN			5	840	+		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)	202			2 X approximate tandem repeats.|HIV-1 integrase-binding.|MYC-binding.		O75784|O95474|Q17S11|Q38GA1|Q76N08|Q9UBH2	Missense_Mutation	SNP	ENST00000263121.7	37	c.633C>A	CCDS13817.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.080470	0.76528	.	.	ENSG00000099956	ENST00000417137;ENST00000344921;ENST00000263121;ENST00000407422;ENST00000407082	D;D;D;D;D	0.92149	-2.98;-2.98;-2.98;-2.98;-2.98	4.91	-8.9	0.00782	.	0.000000	0.85682	D	0.000000	D	0.96632	0.8901	H	0.97465	4.01	0.53005	D	0.999968	P;D;P	0.53885	0.944;0.963;0.882	P;D;P	0.77557	0.817;0.99;0.907	D	0.96513	0.9380	10	0.87932	D	0	-28.9937	16.9294	0.86186	0.0:0.4135:0.0:0.5865	.	211;193;202	G5E975;Q17S11;Q12824	.;.;SNF5_HUMAN	E	220;211;202;193;156	ENSP00000388489:D220E;ENSP00000340883:D211E;ENSP00000263121:D202E;ENSP00000383984:D193E;ENSP00000385226:D156E	ENSP00000263121:D202E	D	+	3	2	SMARCB1	22475587	0.000000	0.05858	0.665000	0.29768	0.971000	0.66376	-2.489000	0.00976	-1.922000	0.01067	-1.046000	0.02355	GAC		0.602	SMARCB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319872.1	NM_003073		3	56	1	0	0.115264	0.115264	0.119481	3	56				
KCNA4	3739	broad.mit.edu	37	11	30034072	30034072	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr11:30034072C>T	ENST00000328224.6	-	2	1387	c.154G>A	c.(154-156)Gaa>Aaa	p.E52K	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	52					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)	p.E52K(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	CCGCTACCTTCGACAGCAGCT	0.677																																						ENST00000328224.6																			1	Substitution - Missense(1)	p.E52K(1)	prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(154-156)Gaa>Aaa		potassium voltage-gated channel, shaker-related subfamily, member 4							35.0	37.0	37.0					11																	30034072		1838	4054	5892	SO:0001583	missense	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30034072C>T	M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.154G>A	11.37:g.30034072C>T	ENSP00000328511:p.Glu52Lys						p.E52K	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN			2	1387	-			52						Missense_Mutation	SNP	ENST00000328224.6	37	c.154G>A	CCDS41629.1	.	.	.	.	.	.	.	.	.	.	C	16.00	2.998509	0.54147	.	.	ENSG00000182255	ENST00000328224	D	0.97209	-4.29	4.84	4.84	0.62591	Potassium channel, voltage dependent, Kv1.4, tandem inactivation (2);	3.081050	0.01285	N	0.009849	D	0.94689	0.8287	N	0.14661	0.345	0.51767	D	0.999932	P	0.49783	0.928	B	0.43274	0.414	D	0.83514	0.0082	10	0.21540	T	0.41	.	17.5623	0.87910	0.0:1.0:0.0:0.0	.	52	P22459	KCNA4_HUMAN	K	52	ENSP00000328511:E52K	ENSP00000328511:E52K	E	-	1	0	KCNA4	29990648	1.000000	0.71417	0.758000	0.31321	0.015000	0.08874	7.357000	0.79456	2.239000	0.73571	0.561000	0.74099	GAA		0.677	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		10	21	0	0	0	0.859065	0	10	21				
IMP4	92856	broad.mit.edu	37	2	131100711	131100711	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr2:131100711delA	ENST00000259239.3	+	2	764	c.56delA	c.(55-57)gagfs	p.E20fs	CCDC115_ENST00000409127.1_5'Flank|IMP4_ENST00000409935.1_Frame_Shift_Del_p.E20fs|CCDC115_ENST00000259229.2_5'Flank|CCDC115_ENST00000437688.2_5'Flank	NM_033416.1	NP_219484.1	Q96G21	IMP4_HUMAN	IMP4, U3 small nucleolar ribonucleoprotein	20	Arg-rich.				rRNA processing (GO:0006364)	nucleolus (GO:0005730)|ribonucleoprotein complex (GO:0030529)				central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	18	Colorectal(110;0.1)					AAGGCCCGGGAGGAGGCGCAG	0.726																																						ENST00000259239.3																			0				central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	18						c.(55-57)ggfs		IMP4, U3 small nucleolar ribonucleoprotein, homolog (yeast)							4.0	6.0	5.0					2																	131100711		1991	3916	5907	SO:0001589	frameshift_variant	92856				rRNA processing|translation	nucleolus|ribonucleoprotein complex	aminoacyl-tRNA ligase activity|ATP binding|protein binding	g.chr2:131100711delA	BC010042	CCDS2160.1	2q21.1	2014-02-19	2014-02-19		ENSG00000136718	ENSG00000136718			30856	protein-coding gene	gene with protein product		612981	"""IMP4, U3 small nucleolar ribonucleoprotein, homolog (yeast)"""			8619474, 9110174, 12655004	Standard	NM_033416		Approved	MGC19606, BXDC4	uc002tra.1	Q96G21	OTTHUMG00000131627	ENST00000259239.3:c.56delA	2.37:g.131100711delA	ENSP00000259239:p.Glu20fs					IMP4_ENST00000409935.1_Frame_Shift_Del_p.E20fs	p.E20fs	NM_033416.1	NP_219484.1	Q96G21	IMP4_HUMAN			2	764	+	Colorectal(110;0.1)		20			Arg-rich.		Q3ZTT3	Frame_Shift_Del	DEL	ENST00000259239.3	37	c.56delA	CCDS2160.1																																																																																				0.726	IMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254520.2	NM_033416		2	4						2	4	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179498718	179498718	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr2:179498718delT	ENST00000591111.1	-	181	37809	c.37585delA	c.(37585-37587)atgfs	p.M12529fs	TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000418062.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Frame_Shift_Del_p.M14170fs|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Frame_Shift_Del_p.M5105fs|TTN_ENST00000342175.6_Frame_Shift_Del_p.M5297fs|TTN_ENST00000359218.5_Frame_Shift_Del_p.M5230fs|TTN_ENST00000342992.6_Frame_Shift_Del_p.M11602fs			Q8WZ42	TITIN_HUMAN	titin	12529	Ig-like 83.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTACATGCATTTTTTCATGA	0.363																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(42508-42510)tgfs		titin							246.0	230.0	235.0					2																	179498718		1865	4098	5963	SO:0001589	frameshift_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179498718delT	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.37585delA	2.37:g.179498718delT	ENSP00000465570:p.Met12529fs					TTN_ENST00000342175.6_Frame_Shift_Del_p.M5297fs|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Frame_Shift_Del_p.M5105fs|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Frame_Shift_Del_p.M12529fs|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Del_p.M5230fs|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Del_p.M11602fs	p.M14170fs	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		231	42732	-			12529			Fibronectin type-III 2.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Frame_Shift_Del	DEL	ENST00000591111.1	37	c.42508delA																																																																																					0.363	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		249	403						249	403	---	---	---	---
THAP9	79725	broad.mit.edu	37	4	83838140	83838141	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr4:83838140_83838141insT	ENST00000302236.5	+	5	826_827	c.775_776insT	c.(775-777)attfs	p.I259fs	LIN54_ENST00000505905.1_Intron	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	259					DNA integration (GO:0015074)|DNA recombination (GO:0006310)|transposition, DNA-mediated (GO:0006313)		metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transferase activity (GO:0016740)|transposase activity (GO:0004803)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				CAACAGCAACATTTTTTCTTTT	0.361																																						ENST00000302236.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33						c.(775-777)tttfs		THAP domain containing 9																																				SO:0001589	frameshift_variant	79725						DNA binding|metal ion binding	g.chr4:83838140_83838141insT	AK091412	CCDS3598.1	4q21.3	2013-01-25			ENSG00000168152	ENSG00000168152		"""THAP (C2CH-type zinc finger) domain containing"""	23192	protein-coding gene	gene with protein product		612537				12575992	Standard	NM_024672		Approved	FLJ34093	uc003hnt.2	Q9H5L6	OTTHUMG00000130291	ENST00000302236.5:c.781dupT	4.37:g.83838146_83838146dupT	ENSP00000305533:p.Ile259fs					LIN54_ENST00000505905.1_Intron	p.F259fs	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN			5	826_827	+		Hepatocellular(203;0.114)	259					B3KRE2|Q59AC9	Frame_Shift_Ins	INS	ENST00000302236.5	37	c.775_776insT	CCDS3598.1																																																																																				0.361	THAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252633.1	NM_024672		30	437						30	437	---	---	---	---
TLL1	7092	broad.mit.edu	37	4	166986834	166986834	+	Splice_Site	DEL	G	G	-			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr4:166986834delG	ENST00000061240.2	+	16	2654		c.e16-1		TLL1_ENST00000507499.1_Splice_Site	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1						cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TTTTTTTCTAGGTTTGCAAAT	0.363																																						ENST00000061240.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.e16-1		tolloid-like 1							97.0	98.0	98.0					4																	166986834		2202	4297	6499	SO:0001630	splice_region_variant	7092				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr4:166986834delG	AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.2008-1G>-	4.37:g.166986834delG						TLL1_ENST00000507499.1_Splice_Site		NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN		GBM - Glioblastoma multiforme(119;0.103)	16	2654	+	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)						B2RMU2|Q96AN3|Q9NQS4	Splice_Site	DEL	ENST00000061240.2	37		CCDS3811.1																																																																																				0.363	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363821.1		Intron	7	224						7	224	---	---	---	---
FBXO4	26272	broad.mit.edu	37	5	41927295	41927296	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr5:41927295_41927296delTT	ENST00000281623.3	+	2	426_427	c.370_371delTT	c.(370-372)ttafs	p.L124fs	FBXO4_ENST00000296812.2_Frame_Shift_Del_p.L124fs|FBXO4_ENST00000509134.1_Frame_Shift_Del_p.L124fs	NM_012176.2	NP_036308.1	Q9UKT5	FBX4_HUMAN	F-box protein 4	124					positive regulation of protein ubiquitination (GO:0031398)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|telomere maintenance (GO:0000723)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(11)|prostate(1)|stomach(1)|urinary_tract(2)	27		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)				TCTAGAAATCTTAAAAAAGCCT	0.351																																						ENST00000296812.2																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(11)|prostate(1)|stomach(1)|urinary_tract(2)	27						c.(370-372)afs		F-box protein 4																																				SO:0001589	frameshift_variant	26272				positive regulation of protein ubiquitination|protein polyubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|telomere maintenance|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	protein binding|protein homodimerization activity|ubiquitin-protein ligase activity	g.chr5:41927295_41927296delTT	AF129534	CCDS3938.1, CCDS3939.1, CCDS75238.1	5p12	2008-02-05	2004-06-15		ENSG00000151876	ENSG00000151876		"""F-boxes /  ""other"""""	13583	protein-coding gene	gene with protein product		609090	"""F-box only protein 4"""			10531035, 10531037	Standard	NM_033484		Approved	FBX4	uc003jmq.3	Q9UKT5	OTTHUMG00000094799	ENST00000281623.3:c.370_371delTT	5.37:g.41927295_41927296delTT	ENSP00000281623:p.Leu124fs					FBXO4_ENST00000281623.3_Frame_Shift_Del_p.L124fs|FBXO4_ENST00000509134.1_Frame_Shift_Del_p.L124fs	p.L124fs	NM_033484.2	NP_277019.1	Q9UKT5	FBX4_HUMAN			2	426_427	+		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)	124					Q68CU8|Q86VT8|Q9UK98	Frame_Shift_Del	DEL	ENST00000281623.3	37	c.370_371delTT	CCDS3938.1																																																																																				0.351	FBXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211614.1			18	360						18	360	---	---	---	---
SRFBP1	153443	broad.mit.edu	37	5	121356088	121356088	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr5:121356088delA	ENST00000339397.4	+	6	730	c.658delA	c.(658-660)aagfs	p.K220fs		NM_152546.2	NP_689759.2			serum response factor binding protein 1											central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1)	15		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)		TGAGTCCCAGAAGACACCTGC	0.403																																						ENST00000339397.4																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1)	15						c.(658-660)agfs		serum response factor binding protein 1							78.0	71.0	73.0					5																	121356088		1827	4078	5905	SO:0001589	frameshift_variant	153443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	perinuclear region of cytoplasm		g.chr5:121356088delA	AK058015	CCDS43354.1	5q23.1	2006-12-21				ENSG00000151304			26333	protein-coding gene	gene with protein product	"""BUD22 homolog (S. cerevisiae)"""	610479				15492011	Standard	NM_152546		Approved	FLJ25286, p49, STRAP, BUD22, Rlb1	uc003kst.1	Q8NEF9		ENST00000339397.4:c.658delA	5.37:g.121356088delA	ENSP00000341324:p.Lys220fs						p.K220fs	NM_152546.2	NP_689759.2	Q8NEF9	SRFB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)	6	730	+		all_cancers(142;0.0124)|Prostate(80;0.0322)	220						Frame_Shift_Del	DEL	ENST00000339397.4	37	c.658delA	CCDS43354.1																																																																																				0.403	SRFBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371200.1	NM_152546		58	96						58	96	---	---	---	---
STAG3L1	54441	broad.mit.edu	37	7	74991540	74991540	+	RNA	DEL	T	T	-			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr7:74991540delT	ENST00000402225.5	+	0	434							P0CL83	ST3L1_HUMAN	stromal antigen 3-like 1 (pseudogene)							nucleus (GO:0005634)											GAGCATGttcttttttttttt	0.413																																						ENST00000402225.5																			0																																																			0					nucleus	binding	g.chr7:74991540delT			7q11.23	2013-06-26	2013-06-26		ENSG00000205583	ENSG00000205583			33852	pseudogene	pseudogene			"""stromal antigen 3-like 1"""				Standard	NR_040583		Approved	DKFZP434A0131, STAG3L1P	uc022agf.1	P0CL83	OTTHUMG00000155940		7.37:g.74991540delT										P0CL83	ST3L1_HUMAN			0	434	+								A6NMT8|A8K0A1|Q32NE4|Q6NXR2|Q7L5M5|Q7Z5K6	RNA	DEL	ENST00000402225.5	37																																																																																						0.413	STAG3L1-012	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000437242.1	NM_001002840		3	5						3	5	---	---	---	---
IGF2BP1	10642	broad.mit.edu	37	17	47121400	47121400	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr17:47121400delG	ENST00000290341.3	+	11	1606	c.1272delG	c.(1270-1272)aagfs	p.K424fs	IGF2BP1_ENST00000431824.2_Frame_Shift_Del_p.K285fs	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	424	KH 3. {ECO:0000255|PROSITE- ProRule:PRU00117}.|Necessary for interaction with ELAVL4 and binding to TAU mRNA. {ECO:0000250}.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of mRNA stability involved in response to stress (GO:0010610)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TCGGCAAGAAGGGGCAGCACA	0.597																																					Esophageal Squamous(198;1041 2123 8248 37119 38268)	ENST00000290341.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						c.(1270-1272)aafs		insulin-like growth factor 2 mRNA binding protein 1							108.0	98.0	101.0					17																	47121400		2203	4300	6503	SO:0001589	frameshift_variant	10642				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	g.chr17:47121400delG	AF198254	CCDS11543.1, CCDS54138.1	17q21.32	2013-02-12			ENSG00000159217	ENSG00000159217		"""RNA binding motif (RRM) containing"""	28866	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 1"""	608288				9891060, 11992722	Standard	NM_001160423		Approved	IMP-1	uc002iom.3	Q9NZI8	OTTHUMG00000161173	ENST00000290341.3:c.1272delG	17.37:g.47121400delG	ENSP00000290341:p.Lys424fs					IGF2BP1_ENST00000431824.2_Frame_Shift_Del_p.K285fs	p.K424fs	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN			11	1606	+			424			KH 3.|Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).		C9JT33	Frame_Shift_Del	DEL	ENST00000290341.3	37	c.1272delG	CCDS11543.1																																																																																				0.597	IGF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364046.1	NM_006546		55	153						55	153	---	---	---	---
ATRN	8455	broad.mit.edu	37	20	3557613	3557614	+	In_Frame_Ins	INS	-	-	CCC	rs544568409		TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr20:3557613_3557614insCCC	ENST00000262919.5	+	14	2390_2391	c.2322_2323insCCC	c.(2323-2325)ccc>CCCccc	p.775_775P>PP	ATRN_ENST00000446916.2_In_Frame_Ins_p.775_775P>PP	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	775	PSI 2.				cerebellum development (GO:0021549)|inflammatory response (GO:0006954)|myelination (GO:0042552)|pigmentation (GO:0043473)|regulation of multicellular organism growth (GO:0040014)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						GCCAGTGGGAGCCCCGGAATCA	0.55																																						ENST00000262919.5																			0				breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(2320-2325)gacccg>gaCCCcccg		attractin																																				SO:0001652	inframe_insertion	8455				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr20:3557613_3557614insCCC	AF034957	CCDS13053.1, CCDS13054.1	20p13	2008-07-02			ENSG00000088812	ENSG00000088812			885	protein-coding gene	gene with protein product	"""mahogany protein"""	603130				9736737, 8596018	Standard	NM_139321		Approved	DPPT-L, MGCA	uc002wim.2	O75882	OTTHUMG00000031746	ENST00000262919.5:c.2323_2325dupCCC	20.37:g.3557614_3557616dupCCC	ENSP00000262919:p.Pro775dup					ATRN_ENST00000446916.2_In_Frame_Ins_p.775_776insP	p.775_776insP	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN			14	2390_2391	+			775			PSI 2.		A8KAE5|O60295|O95414|Q3MIT3|Q5TDA2|Q5TDA4|Q5VYW3|Q9NTQ3|Q9NTQ4|Q9NU01|Q9NZ57|Q9NZ58|Q9UC75|Q9UDF5	In_Frame_Ins	INS	ENST00000262919.5	37	c.2322_2323insCCC	CCDS13053.1																																																																																				0.550	ATRN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077740.2	NM_139321		14	226						14	226	---	---	---	---
IGLC3	3539	broad.mit.edu	37	22	23248852	23248852	+	RNA	DEL	A	A	-	rs71797740|rs200606818	byFrequency	TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr22:23248852delA	ENST00000390325.2	+	0	341				IGLJ3_ENST00000390324.2_RNA			P0CG06	LAC3_HUMAN	immunoglobulin lambda constant 3 (Kern-Oz+ marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)										CTCACCCCCCACCACGGGAGA	0.572													-|A|-|insertion	1080	0.215655	0.1271	0.2565	5008	,	,		20361	0.3879		0.0974	False		,,,				2504	0.2505					ENST00000390325.2																			0																	813,2575		63,687,944						-2.4	0.0		dbSNP_130	7	1378,5566		50,1278,2144	no	intergenic				113,1965,3088	A1A1,A1R,RR		19.8445,23.9965,21.206				2191,8141						0							g.chr22:23248852delA	J00254		22q11.2	2012-02-08			ENSG00000211679	ENSG00000211679		"""Immunoglobulins / IGL locus"""	5857	other	immunoglobulin gene				IGLC			Standard	NG_000002		Approved			P0CG06	OTTHUMG00000151217		22.37:g.23248852delA														0	341	+								A0M8Q4|P80423	RNA	DEL	ENST00000390325.2	37																																																																																						0.572	IGLC3-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000321821.3	NG_000002		12	10						12	10	---	---	---	---
