#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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
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_ENST00000361302.3_Missense_Mutation_p.F75L|AGL_ENST00000370163.3_Missense_Mutation_p.F91L|AGL_ENST00000370165.3_Missense_Mutation_p.F91L|AGL_ENST00000370161.2_Missense_Mutation_p.F75L|AGL_ENST00000361522.4_Missense_Mutation_p.F74L|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_ENST00000361302.3_Missense_Mutation_p.F75L|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	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	37	108	---	---	---	---
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	3	14	---	---	---	---
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_ENST00000368827.6_Missense_Mutation_p.E182Q|TDRKH_ENST00000368825.3_Missense_Mutation_p.E137Q|TDRKH_ENST00000458431.2_Missense_Mutation_p.E182Q|TDRKH_ENST00000368823.1_Missense_Mutation_p.E178Q|TDRKH_ENST00000484421.1_5'UTR|TDRKH_ENST00000368824.3_Missense_Mutation_p.E182Q|TDRKH_ENST00000440583.2_5'UTR			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_ENST00000484421.1_5'UTR|TDRKH_ENST00000440583.2_5'UTR|TDRKH_ENST00000368824.3_Missense_Mutation_p.E182Q|TDRKH_ENST00000458431.2_Missense_Mutation_p.E182Q|TDRKH_ENST00000368827.6_Missense_Mutation_p.E182Q|TDRKH_ENST00000368823.1_Missense_Mutation_p.E178Q|TDRKH_ENST00000368825.3_Missense_Mutation_p.E137Q	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	98	293	---	---	---	---
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	BCAN_ENST00000361588.5_Missense_Mutation_p.E87D|RP11-284F21.10_ENST00000605886.1_RNA|RP11-284F21.7_ENST00000448869.1_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																																						ENST00000329117.5																			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					RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.E87D	p.E87D	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN			3	597	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					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	4	60	---	---	---	---
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_ENST00000453051.1_RNA|RP11-12M5.3_ENST00000415218.1_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	8	59	---	---	---	---
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	22	344	---	---	---	---
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	PLK4_ENST00000515069.1_Missense_Mutation_p.R753K|RNU6-583P_ENST00000516012.1_RNA|PLK4_ENST00000514379.1_Missense_Mutation_p.R790K|PLK4_ENST00000513090.1_Missense_Mutation_p.R799K|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	10733				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_ENST00000515069.1_Missense_Mutation_p.R753K|PLK4_ENST00000507249.1_Missense_Mutation_p.R770K	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	9	306	---	---	---	---
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.(439-441)Gct>Tct		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.A199S	p.A147S			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.439G>T	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	18	40	---	---	---	---
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	SKIV2L2_ENST00000545714.1_5'UTR|DHX29_ENST00000251636.5_5'Flank|SKIV2L2_ENST00000504388.1_3'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	23	110	---	---	---	---
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	14	105	---	---	---	---
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_ENST00000361499.3_Missense_Mutation_p.F351V|FAM135A_ENST00000457062.2_Missense_Mutation_p.F334V|FAM135A_ENST00000505868.1_Missense_Mutation_p.F351V|FAM135A_ENST00000370479.3_Missense_Mutation_p.F334V|FAM135A_ENST00000505769.1_Missense_Mutation_p.F351V	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_ENST00000361499.3_Missense_Mutation_p.F351V|FAM135A_ENST00000457062.2_Missense_Mutation_p.F334V|FAM135A_ENST00000505868.1_Missense_Mutation_p.F351V|FAM135A_ENST00000370479.3_Missense_Mutation_p.F334V	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	72	192	---	---	---	---
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_ENST00000525777.1_Silent_p.V5V|FDFT1_ENST00000446331.2_Intron|FDFT1_ENST00000443614.2_Silent_p.V90V|FDFT1_ENST00000538689.1_5'UTR|FDFT1_ENST00000528812.1_Silent_p.V26V|FDFT1_ENST00000530664.1_Silent_p.V26V|FDFT1_ENST00000528643.1_Silent_p.V5V|FDFT1_ENST00000525900.1_Silent_p.V83V	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_ENST00000528643.1_Silent_p.V5V|FDFT1_ENST00000538689.1_5'UTR|FDFT1_ENST00000443614.2_Silent_p.V90V|FDFT1_ENST00000528812.1_Silent_p.V26V|FDFT1_ENST00000525777.1_Silent_p.V5V|FDFT1_ENST00000530664.1_Silent_p.V26V|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	6	95	---	---	---	---
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	93	76	---	---	---	---
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_ENST00000455883.2_Nonsense_Mutation_p.W3052*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.W3151*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.W3181*	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_ENST00000455883.2_Nonsense_Mutation_p.W3052*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.W3151*	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	104	288	---	---	---	---
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_ENST00000373776.3_Missense_Mutation_p.V487F|TTLL11_ENST00000474723.1_5'UTR	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	25	239	---	---	---	---
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	4	49	---	---	---	---
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_ENST00000374660.1_Missense_Mutation_p.Q1390K|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.Q1271K			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_ENST00000361713.1_Missense_Mutation_p.Q1271K|ANKRD30A_ENST00000602533.1_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	7	78	---	---	---	---
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	37	87	---	---	---	---
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	11	34	---	---	---	---
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_ENST00000554719.1_Missense_Mutation_p.L941I|NRXN3_ENST00000335750.5_Missense_Mutation_p.L941I|NRXN3_ENST00000556003.1_Intron|NRXN3_ENST00000281127.7_Missense_Mutation_p.L309I	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_ENST00000335750.5_Missense_Mutation_p.L941I|NRXN3_ENST00000557594.1_Missense_Mutation_p.L309I|NRXN3_ENST00000428277.2_Missense_Mutation_p.L339I|NRXN3_ENST00000554719.1_Missense_Mutation_p.L941I|NRXN3_ENST00000556003.1_Intron	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	9	228	---	---	---	---
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	46	262	---	---	---	---
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	44	50	---	---	---	---
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_ENST00000325747.5_Missense_Mutation_p.G1156E|CEP152_ENST00000399334.3_Missense_Mutation_p.G1193E	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_ENST00000325747.5_Missense_Mutation_p.G1156E|CEP152_ENST00000399334.3_Missense_Mutation_p.G1193E	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	47	58	---	---	---	---
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_ENST00000249837.3_Missense_Mutation_p.A797V|VPS13C_ENST00000395896.4_Missense_Mutation_p.A840V|VPS13C_ENST00000395898.3_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_ENST00000395896.4_Missense_Mutation_p.A840V|VPS13C_ENST00000395898.3_Missense_Mutation_p.A797V|VPS13C_ENST00000249837.3_Missense_Mutation_p.A797V	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	82	140	---	---	---	---
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_ENST00000559004.1_Missense_Mutation_p.G277S|ACAN_ENST00000439576.2_Missense_Mutation_p.G277S|ACAN_ENST00000558207.1_Missense_Mutation_p.G277S|ACAN_ENST00000352105.7_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_ENST00000558207.1_Missense_Mutation_p.G277S|ACAN_ENST00000559004.1_Missense_Mutation_p.G277S|ACAN_ENST00000561243.1_Missense_Mutation_p.G277S|ACAN_ENST00000352105.7_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	6	13	---	---	---	---
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_ENST00000262306.7_Splice_Site|TCEB2_ENST00000409477.1_5'UTR|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_ENST00000262306.7_Splice_Site|TCEB2_ENST00000572954.1_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	7	10	---	---	---	---
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_ENST00000532355.1_5'Flank|ABCC12_ENST00000448542.1_3'UTR|ABCC12_ENST00000416054.1_3'UTR	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	27	32	---	---	---	---
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_ENST00000343388.7_Splice_Site|TLK2_ENST00000582809.1_Splice_Site|TLK2_ENST00000346027.5_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_ENST00000542523.1_Splice_Site|TLK2_ENST00000343388.7_Splice_Site|TLK2_ENST00000326270.9_Splice_Site|TLK2_ENST00000346027.5_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	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	14	255	---	---	---	---
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	41	178	---	---	---	---
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_ENST00000393914.3_5'UTR|GABRE_ENST00000370325.1_Missense_Mutation_p.V65I	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_ENST00000370328.3_Missense_Mutation_p.V65I|GABRE_ENST00000393914.3_5'UTR	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	10	220	---	---	---	---
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_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Del_p.M11602fs|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Del_p.M5230fs|TTN-AS1_ENST00000418062.1_RNA|TTN_ENST00000460472.2_Frame_Shift_Del_p.M5105fs|TTN_ENST00000342175.6_Frame_Shift_Del_p.M5297fs|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000589042.1_Frame_Shift_Del_p.M14170fs			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)atgfs		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-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Frame_Shift_Del_p.M5105fs|TTN_ENST00000342992.6_Frame_Shift_Del_p.M11602fs|TTN_ENST00000342175.6_Frame_Shift_Del_p.M5297fs|TTN_ENST00000359218.5_Frame_Shift_Del_p.M5230fs|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Frame_Shift_Del_p.M12529fs|TTN-AS1_ENST00000590807.1_RNA	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)attfs		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.I259fs	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)ttafs		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)aagfs		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	---	---	---	---
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)aagfs		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	---	---	---	---
