#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
PAX3	5077	broad.mit.edu	37	2	223065931	223065931	+	3'UTR	SNP	C	C	T			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr2:223065931C>T	ENST00000350526.4	-	0	2288				PAX3_ENST00000336840.6_3'UTR|PAX3_ENST00000392070.2_3'UTR|PAX3_ENST00000464706.1_5'Flank|PAX3_ENST00000344493.4_3'UTR|PAX3_ENST00000392069.2_Missense_Mutation_p.D494N	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3						apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|mammary gland specification (GO:0060594)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of somitogenesis (GO:0014807)|sensory perception of sound (GO:0007605)|spinal cord association neuron differentiation (GO:0021527)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTGCTTTTGTCGAACGTGTTC	0.418			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome																															ENST00000392069.2				Dom	yes		2	2q35	5077	T	paired box gene 3	yes	Waardenburg syndrome; craniofacial-deafness-hand syndrome	M	"""FOXO1A, NCOA1"""		alveolar rhabdomyosarcoma	PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	0				NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38						c.(1480-1482)Gac>Aac		paired box 3							114.0	108.0	110.0					2																	223065931		2203	4300	6503	SO:0001624	3_prime_UTR_variant	5077				apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:223065931C>T		CCDS2449.1, CCDS2450.1, CCDS2451.1, CCDS42825.1, CCDS2448.1, CCDS42826.1, CCDS46522.1, CCDS46523.1	2q36.1	2011-06-20	2007-07-12		ENSG00000135903	ENSG00000135903		"""Paired boxes"", ""Homeoboxes / PRD class"""	8617	protein-coding gene	gene with protein product		606597	"""Waardenburg syndrome 1"", ""paired box gene 3 (Waardenburg syndrome 1)"""	WS1		1347149	Standard	NM_181461		Approved	HUP2	uc002vmt.2	P23760	OTTHUMG00000133157	ENST00000350526.4:c.*712G>A	2.37:g.223065931C>T						PAX3_ENST00000350526.4_3'UTR|PAX3_ENST00000392070.2_3'UTR|PAX3_ENST00000344493.4_3'UTR|PAX3_ENST00000336840.6_3'UTR	p.D494N	NM_001127366.2|NM_181458.3|NM_181459.3	NP_001120838.1|NP_852123.1|NP_852124.1	P23760	PAX3_HUMAN		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	10	1845	-		Renal(207;0.0183)	0					G5E9C1|Q16448|Q494Z3|Q494Z4|Q53T90|Q6GSJ9|Q86UQ2|Q86UQ3	Missense_Mutation	SNP	ENST00000350526.4	37	c.1480G>A	CCDS42826.1	.	.	.	.	.	.	.	.	.	.	C	0.069	-1.206195	0.01568	.	.	ENSG00000135903	ENST00000392069	D	0.94280	-3.39	5.68	2.86	0.33363	.	1.631480	0.03626	N	0.237226	D	0.85622	0.5739	N	0.08118	0	0.54753	D	0.999981	B	0.09022	0.002	B	0.04013	0.001	T	0.65561	-0.6138	10	0.14656	T	0.56	.	9.3641	0.38215	0.0:0.7021:0.0:0.2979	.	494	G5E9C1	.	N	494	ENSP00000375921:D494N	ENSP00000375921:D494N	D	-	1	0	PAX3	222774175	0.990000	0.36364	0.008000	0.14137	0.018000	0.09664	0.788000	0.26872	0.398000	0.25338	0.655000	0.94253	GAC		0.418	PAX3-006	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328670.1			6	68	0	0	0	1	0	6	68				
SLC26A4	5172	broad.mit.edu	37	7	107340565	107340565	+	Missense_Mutation	SNP	C	C	A			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr7:107340565C>A	ENST00000265715.3	+	15	1876	c.1652C>A	c.(1651-1653)tCc>tAc	p.S551Y	SLC26A4_ENST00000543100.1_Missense_Mutation_p.S120Y|SLC26A4_ENST00000480841.1_3'UTR|SLC26A4_ENST00000541474.1_Missense_Mutation_p.S112Y|SLC26A4_ENST00000544569.1_Missense_Mutation_p.S138Y	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	551	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						CTTAGATTTTCCAGTCCTATT	0.308									Pendred syndrome																													ENST00000265715.3																			0				central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						c.(1651-1653)tCc>tAc		solute carrier family 26 (anion exchanger), member 4							115.0	120.0	118.0					7																	107340565		2202	4299	6501	SO:0001583	missense	5172	Pendred syndrome	Familial Cancer Database	Goiter-Deafness syndrome	regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity	g.chr7:107340565C>A	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"""Solute carriers"""	8818	protein-coding gene	gene with protein product	"""pendrin"""	605646	"""solute carrier family 26, member 4"""	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.1652C>A	7.37:g.107340565C>A	ENSP00000265715:p.Ser551Tyr					SLC26A4_ENST00000543100.1_Missense_Mutation_p.S120Y|SLC26A4_ENST00000480841.1_3'UTR|SLC26A4_ENST00000544569.1_Missense_Mutation_p.S138Y|SLC26A4_ENST00000541474.1_Missense_Mutation_p.S112Y	p.S551Y	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN			15	1876	+			551			STAS.		B7Z266|O43170	Missense_Mutation	SNP	ENST00000265715.3	37	c.1652C>A	CCDS5746.1	.	.	.	.	.	.	.	.	.	.	C	14.37	2.516119	0.44763	.	.	ENSG00000091137	ENST00000265715;ENST00000541474;ENST00000544569;ENST00000543100	D;D;D;D	0.89270	-2.49;-2.49;-2.49;-2.49	5.55	4.59	0.56863	Sulphate transporter/antisigma-factor antagonist STAS (4);	0.246012	0.34777	N	0.003691	D	0.86460	0.5938	L	0.43152	1.355	0.37615	D	0.921064	B;B;B	0.21309	0.029;0.036;0.054	B;B;B	0.27262	0.022;0.04;0.078	D	0.85618	0.1262	10	0.54805	T	0.06	.	17.1044	0.86658	0.1353:0.8647:0.0:0.0	.	112;138;551	F5H104;B7Z6M6;O43511	.;.;S26A4_HUMAN	Y	551;112;138;120	ENSP00000265715:S551Y;ENSP00000439743:S112Y;ENSP00000437427:S138Y;ENSP00000441209:S120Y	ENSP00000265715:S551Y	S	+	2	0	SLC26A4	107127801	0.999000	0.42202	1.000000	0.80357	0.991000	0.79684	2.870000	0.48451	2.624000	0.88883	0.563000	0.77884	TCC		0.308	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337148.1	NM_000441		5	60	1	0	0.000602214	1	0.000633363	5	60				
C10orf90	118611	broad.mit.edu	37	10	128118366	128118366	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr10:128118366G>A	ENST00000284694.7	-	7	2071	c.1951C>T	c.(1951-1953)Cga>Tga	p.R651*	C10orf90_ENST00000544758.1_Nonsense_Mutation_p.R748*|C10orf90_ENST00000454341.1_Nonsense_Mutation_p.R554*|C10orf90_ENST00000480379.1_Nonsense_Mutation_p.R55*|C10orf90_ENST00000356858.3_Nonsense_Mutation_p.R604*	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	651	ALMS motif. {ECO:0000250}.				mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell growth (GO:0030308)|protein stabilization (GO:0050821)|response to ionizing radiation (GO:0010212)|response to UV (GO:0009411)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.R651*(2)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		CTCTTAGATCGCATATGCATC	0.438																																						ENST00000284694.7																			2	Substitution - Nonsense(2)	p.R651*(2)	large_intestine(1)|lung(1)	NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						c.(1951-1953)Cga>Tga		chromosome 10 open reading frame 90							247.0	221.0	230.0					10																	128118366		2203	4300	6503	SO:0001587	stop_gained	118611							g.chr10:128118366G>A	BC034828	CCDS31310.1	10q26.2	2012-05-31			ENSG00000154493	ENSG00000154493			26563	protein-coding gene	gene with protein product	"""fragile-site associated tumor suppressor"""					20843368, 20154723	Standard	NM_001004298		Approved	FLJ32938, bA422P15.2, FATS	uc001ljq.3	Q96M02	OTTHUMG00000019245	ENST00000284694.7:c.1951C>T	10.37:g.128118366G>A	ENSP00000284694:p.Arg651*					C10orf90_ENST00000480379.1_Nonsense_Mutation_p.R55*|C10orf90_ENST00000544758.1_Nonsense_Mutation_p.R748*|C10orf90_ENST00000356858.3_Nonsense_Mutation_p.R604*|C10orf90_ENST00000454341.1_Nonsense_Mutation_p.R554*	p.R651*	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)	7	2071	-		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)	651					B9EIQ9|Q5JRP6|Q5T023|Q8NCV5|Q8WU75	Nonsense_Mutation	SNP	ENST00000284694.7	37	c.1951C>T	CCDS31310.1	.	.	.	.	.	.	.	.	.	.	G	38	7.077197	0.98048	.	.	ENSG00000154493	ENST00000356858;ENST00000284694;ENST00000454341;ENST00000544758;ENST00000432642	.	.	.	4.78	0.18	0.15068	.	0.000000	0.38548	N	0.001652	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.4571	13.2486	0.60039	0.0:0.0:0.3798:0.6202	.	.	.	.	X	604;651;554;748;651	.	ENSP00000284694:R651X	R	-	1	2	C10orf90	128108356	0.994000	0.37717	0.997000	0.53966	0.988000	0.76386	0.130000	0.15850	0.124000	0.18369	0.655000	0.94253	CGA		0.438	C10orf90-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001004298		5	81	0	0	0	1	0	5	81				
DNAH3	55567	broad.mit.edu	37	16	21139017	21139017	+	Missense_Mutation	SNP	A	A	C			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr16:21139017A>C	ENST00000261383.3	-	8	1198	c.1199T>G	c.(1198-1200)cTt>cGt	p.L400R	DNAH3_ENST00000415178.1_Missense_Mutation_p.L400R|CTC-508F8.1_ENST00000575612.1_RNA	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	400	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CTTGTTGAGAAGAGTCTGGTG	0.493																																						ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(1198-1200)cTt>cGt		dynein, axonemal, heavy chain 3							131.0	119.0	123.0					16																	21139017		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21139017A>C	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.1199T>G	16.37:g.21139017A>C	ENSP00000261383:p.Leu400Arg					CTC-508F8.1_ENST00000575612.1_RNA|DNAH3_ENST00000415178.1_Missense_Mutation_p.L400R	p.L400R	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	8	1198	-			400			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.1199T>G	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	A	13.60	2.284504	0.40394	.	.	ENSG00000158486	ENST00000261383;ENST00000415178;ENST00000396036	T;T	0.40476	1.03;1.21	5.57	4.44	0.53790	.	0.864471	0.09761	N	0.759309	T	0.62478	0.2431	M	0.69358	2.11	0.80722	D	1	D;D	0.89917	0.989;1.0	P;D	0.87578	0.799;0.998	T	0.53194	-0.8473	10	0.87932	D	0	.	9.5149	0.39100	0.8425:0.0:0.0:0.1575	.	400;371	Q8TD57;Q8TD57-2	DYH3_HUMAN;.	R	400;400;371	ENSP00000261383:L400R;ENSP00000394245:L400R	ENSP00000261383:L400R	L	-	2	0	DNAH3	21046518	1.000000	0.71417	0.307000	0.25127	0.280000	0.26924	6.338000	0.72963	0.886000	0.36113	0.460000	0.39030	CTT		0.493	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		4	97	0	0	0	1	0	4	97				
F2R	2149	broad.mit.edu	37	5	76028690	76028690	+	Missense_Mutation	SNP	C	C	T			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr5:76028690C>T	ENST00000319211.4	+	2	905	c.640C>T	c.(640-642)Cgt>Tgt	p.R214C		NM_001992.3	NP_001983.2	P25116	PAR1_HUMAN	coagulation factor II (thrombin) receptor	214					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPKK activity (GO:0000186)|anatomical structure morphogenesis (GO:0009653)|blood coagulation (GO:0007596)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|G-protein coupled receptor signaling pathway (GO:0007186)|homeostasis of number of cells within a tissue (GO:0048873)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of renin secretion into blood stream (GO:1900134)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|platelet dense granule organization (GO:0060155)|positive regulation of blood coagulation (GO:0030194)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasoconstriction (GO:0045907)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of blood coagulation (GO:0030193)|regulation of interleukin-1 beta production (GO:0032651)|regulation of sensory perception of pain (GO:0051930)|release of sequestered calcium ion into cytosol (GO:0051209)|response to lipopolysaccharide (GO:0032496)|response to wounding (GO:0009611)|STAT protein import into nucleus (GO:0007262)|tyrosine phosphorylation of STAT protein (GO:0007260)	caveola (GO:0005901)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|platelet dense tubular network (GO:0031094)|postsynaptic membrane (GO:0045211)	G-protein alpha-subunit binding (GO:0001965)|G-protein beta-subunit binding (GO:0031681)|G-protein coupled receptor activity (GO:0004930)|receptor binding (GO:0005102)|thrombin receptor activity (GO:0015057)			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)	Streptokinase(DB00086)	CCTCTCCTGGCGTACTCTGGG	0.537																																						ENST00000319211.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3)	16						c.(640-642)Cgt>Tgt		coagulation factor II (thrombin) receptor	Streptokinase(DB00086)						169.0	168.0	169.0					5																	76028690		2203	4300	6503	SO:0001583	missense	2149				activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	caveola|extracellular region|Golgi apparatus|integral to plasma membrane|platelet dense tubular network	receptor binding|thrombin receptor activity	g.chr5:76028690C>T	M62424	CCDS4032.1	5q13	2012-08-08			ENSG00000181104	ENSG00000181104		"""GPCR / Class A : Protease activated receptors"""	3537	protein-coding gene	gene with protein product		187930				8395910	Standard	NM_001992		Approved	TR, CF2R, PAR1, PAR-1	uc003ken.4	P25116	OTTHUMG00000131299	ENST00000319211.4:c.640C>T	5.37:g.76028690C>T	ENSP00000321326:p.Arg214Cys						p.R214C	NM_001992.3	NP_001983.2	P25116	PAR1_HUMAN		all cancers(79;4.43e-43)	2	905	+		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)	214					Q53XV0|Q96RF7|Q9BUN4	Missense_Mutation	SNP	ENST00000319211.4	37	c.640C>T	CCDS4032.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.955751	0.92726	.	.	ENSG00000181104	ENST00000319211	T	0.39406	1.08	5.07	5.07	0.68467	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.71558	0.3354	M	0.88181	2.935	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77146	-0.2695	10	0.87932	D	0	-28.3121	19.0012	0.92834	0.0:1.0:0.0:0.0	.	214	P25116	PAR1_HUMAN	C	214	ENSP00000321326:R214C	ENSP00000321326:R214C	R	+	1	0	F2R	76064446	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	5.622000	0.67750	2.786000	0.95864	0.561000	0.74099	CGT		0.537	F2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254068.2			6	139	0	0	0	1	0	6	139				
MTNR1A	4543	broad.mit.edu	37	4	187455416	187455416	+	Silent	SNP	C	C	T			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr4:187455416C>T	ENST00000307161.5	-	2	681	c.480G>A	c.(478-480)ctG>ctA	p.L160L	RP11-215A19.2_ENST00000509111.1_Intron	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN	melatonin receptor 1A	160					circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|mating behavior (GO:0007617)|positive regulation of cGMP biosynthetic process (GO:0030828)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	hormone binding (GO:0042562)|melatonin receptor activity (GO:0008502)|organic cyclic compound binding (GO:0097159)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	GGAGGTTGGGCAGGACGGCCG	0.597																																						ENST00000307161.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14						c.(478-480)ctG>ctA		melatonin receptor 1A	Melatonin(DB01065)|Ramelteon(DB00980)						123.0	95.0	104.0					4																	187455416		2203	4300	6503	SO:0001819	synonymous_variant	4543				circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior	integral to plasma membrane	melatonin receptor activity	g.chr4:187455416C>T		CCDS3848.1	4q35	2012-08-08				ENSG00000168412		"""GPCR / Class A : Melatonin receptors"""	7463	protein-coding gene	gene with protein product		600665				7558006	Standard	NM_005958		Approved	MEL-1A-R	uc003izd.1	P48039		ENST00000307161.5:c.480G>A	4.37:g.187455416C>T						RP11-215A19.2_ENST00000509111.1_Intron	p.L160L	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	2	681	-		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)	160					A0AVC5|B0M0L2	Silent	SNP	ENST00000307161.5	37	c.480G>A	CCDS3848.1																																																																																				0.597	MTNR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360189.1			16	66	0	0	0	1	0	16	66				
CROCC	9696	broad.mit.edu	37	1	17266574	17266574	+	Missense_Mutation	SNP	C	C	A			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr1:17266574C>A	ENST00000375541.5	+	13	1863	c.1794C>A	c.(1792-1794)aaC>aaA	p.N598K	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GGAGCGCCAACGAGCTCCTGA	0.647																																						ENST00000375541.5																			0				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62						c.(1792-1794)aaC>aaA		ciliary rootlet coiled-coil, rootletin							10.0	11.0	11.0					1																	17266574		2169	4221	6390	SO:0001583	missense	9696				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	g.chr1:17266574C>A	AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"""rootletin, ciliary rootlet protein"""	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.1794C>A	1.37:g.17266574C>A	ENSP00000364691:p.Asn598Lys					CROCC_ENST00000467938.1_3'UTR	p.N598K	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)	13	1863	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)	598						Missense_Mutation	SNP	ENST00000375541.5	37	c.1794C>A	CCDS30616.1	.	.	.	.	.	.	.	.	.	.	C	3.949	-0.012693	0.07727	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.09255	3.0	4.99	-6.78	0.01721	.	.	.	.	.	T	0.03915	0.0110	N	0.14661	0.345	0.19300	N	0.99997	B;B;B	0.20988	0.004;0.005;0.05	B;B;B	0.22753	0.01;0.014;0.041	T	0.43556	-0.9384	9	0.05721	T	0.95	.	5.7365	0.18069	0.1029:0.1771:0.1014:0.6186	.	461;461;598	A1L0S8;A1L0S9;Q5TZA2	.;.;CROCC_HUMAN	K	598;479	ENSP00000364691:N598K	ENSP00000364691:N598K	N	+	3	2	CROCC	17139161	0.000000	0.05858	0.002000	0.10522	0.952000	0.60782	-5.200000	0.00142	-1.382000	0.02109	-0.254000	0.11334	AAC		0.647	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675		3	10	1	0	0.115264	1	0.115264	3	10				
LOC645752	645752	broad.mit.edu	37	15	78211512	78211512	+	lincRNA	SNP	C	C	A			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr15:78211512C>A	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA|RN7SL214P_ENST00000487317.2_RNA																							GTTCCTTGCTCAGGACACTCA	0.557																																						ENST00000565869.1																			0																																																			0							g.chr15:78211512C>A																													15.37:g.78211512C>A						RP11-114H24.2_ENST00000567226.1_RNA								0	111	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.557	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			5	115	1	0	1.23904e-05	1	1.39966e-05	5	115				
KIAA0922	23240	broad.mit.edu	37	4	154510059	154510059	+	Missense_Mutation	SNP	G	G	A			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr4:154510059G>A	ENST00000409663.3	+	16	1619	c.1567G>A	c.(1567-1569)Ggg>Agg	p.G523R	KIAA0922_ENST00000409959.3_Missense_Mutation_p.G524R|KIAA0922_ENST00000440693.1_Missense_Mutation_p.G524R	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	523						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				TAATTGGAATGGGAGCCTTTC	0.313																																						ENST00000409959.3																			0				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(1570-1572)Ggg>Agg		KIAA0922							89.0	90.0	90.0					4																	154510059		2203	4300	6503	SO:0001583	missense	23240					integral to membrane		g.chr4:154510059G>A	AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.1567G>A	4.37:g.154510059G>A	ENSP00000386574:p.Gly523Arg					KIAA0922_ENST00000440693.1_Missense_Mutation_p.G524R|KIAA0922_ENST00000409663.3_Missense_Mutation_p.G523R	p.G524R	NM_001131007.1	NP_001124479.1	A2VDJ0	T131L_HUMAN			16	1619	+	all_hematologic(180;0.093)	Renal(120;0.118)	523					B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Missense_Mutation	SNP	ENST00000409663.3	37	c.1570G>A	CCDS3783.2	.	.	.	.	.	.	.	.	.	.	G	2.342	-0.350855	0.05173	.	.	ENSG00000121210	ENST00000409663;ENST00000440693;ENST00000409959;ENST00000240487	T;T;T;T	0.15256	2.65;2.44;2.65;2.44	5.95	0.264	0.15607	.	0.679746	0.16482	N	0.212492	T	0.07279	0.0184	N	0.10874	0.06	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.003;0.002;0.001	T	0.37150	-0.9718	10	0.23302	T	0.38	-0.0244	6.2218	0.20685	0.5166:0.2494:0.234:0.0	.	524;524;523	A2VDJ0-3;A2VDJ0-5;A2VDJ0	.;.;T131L_HUMAN	R	523;524;524;385	ENSP00000386574:G523R;ENSP00000409663:G524R;ENSP00000386787:G524R;ENSP00000240487:G385R	ENSP00000240487:G385R	G	+	1	0	KIAA0922	154729509	0.023000	0.18921	0.026000	0.17262	0.816000	0.46133	-0.033000	0.12246	-0.290000	0.09025	-0.142000	0.14014	GGG		0.313	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1	NM_015196		5	82	0	0	0	1	0	5	82				
EFCAB5	374786	broad.mit.edu	37	17	28380700	28380700	+	Silent	SNP	A	A	G	rs34709422		TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr17:28380700A>G	ENST00000394835.3	+	10	1920	c.1728A>G	c.(1726-1728)caA>caG	p.Q576Q	EFCAB5_ENST00000536908.2_Silent_p.Q520Q|EFCAB5_ENST00000320856.5_Silent_p.Q576Q|EFCAB5_ENST00000541045.1_Silent_p.Q233Q|EFCAB5_ENST00000378738.3_Silent_p.Q576Q|EFCAB5_ENST00000394832.2_Silent_p.Q576Q	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	576							calcium ion binding (GO:0005509)			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CTACAGAACAAGGACAGCACA	0.453																																						ENST00000394835.3																			0				breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						c.(1726-1728)caA>caG		EF-hand calcium binding domain 5							179.0	166.0	171.0					17																	28380700		2063	4210	6273	SO:0001819	synonymous_variant	374786						calcium ion binding	g.chr17:28380700A>G	AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"""EF-hand domain containing"""	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.1728A>G	17.37:g.28380700A>G						EFCAB5_ENST00000378738.3_Silent_p.Q576Q|EFCAB5_ENST00000320856.5_Silent_p.Q576Q|EFCAB5_ENST00000541045.1_Silent_p.Q233Q|EFCAB5_ENST00000394832.2_Silent_p.Q576Q|EFCAB5_ENST00000536908.2_Silent_p.Q520Q	p.Q576Q	NM_198529.3	NP_940931.2	A4FU69	EFCB5_HUMAN			10	1920	+			576					B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Silent	SNP	ENST00000394835.3	37	c.1728A>G	CCDS11254.2																																																																																				0.453	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4	NM_198529		5	101	0	0	0	1	0	5	101				
IGKV2D-29	28882	broad.mit.edu	37	2	89987009	89987009	+	RNA	SNP	C	C	A			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr2:89987009C>A	ENST00000491977.1	+	0	320									immunoglobulin kappa variable 2D-29																		ACAGATTTCACACTGAAAATC	0.517																																						ENST00000491977.1																			0																				47.0	54.0	52.0					2																	89987009		1854	4077	5931			0							g.chr2:89987009C>A	M31952		2p11.2	2012-02-08			ENSG00000243264	ENSG00000243264		"""Immunoglobulins / IGK locus"""	5800	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151619		2.37:g.89987009C>A														0	320	+									RNA	SNP	ENST00000491977.1	37																																																																																						0.517	IGKV2D-29-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323291.1	NG_000833		4	104	1	0	0.00909568	1	0.00940401	4	104				
CEBPE	1053	broad.mit.edu	37	14	23586839	23586839	+	Missense_Mutation	SNP	T	T	C			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr14:23586839T>C	ENST00000206513.5	-	2	1227	c.703A>G	c.(703-705)Aag>Gag	p.K235E		NM_001805.3	NP_001796.2	Q15744	CEBPE_HUMAN	CCAAT/enhancer binding protein (C/EBP), epsilon	235	Leucine-zipper. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				cellular response to lipopolysaccharide (GO:0071222)|cytokine biosynthetic process (GO:0042089)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|macrophage differentiation (GO:0030225)|phagocytosis (GO:0006909)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0064)		TCCAGCACCTTCTGCTGCGTC	0.622																																					NSCLC(63;1230 1818 14565 22565)	ENST00000206513.5																			0				large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)	9						c.(703-705)Aag>Gag		CCAAT/enhancer binding protein (C/EBP), epsilon							81.0	68.0	72.0					14																	23586839		2203	4300	6503	SO:0001583	missense	1053					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:23586839T>C		CCDS9589.1	14q11.2	2014-09-17			ENSG00000092067	ENSG00000092067		"""basic leucine zipper proteins"""	1836	protein-coding gene	gene with protein product		600749				8661101	Standard	NM_001805		Approved	CRP1	uc001wiv.2	Q15744	OTTHUMG00000028719	ENST00000206513.5:c.703A>G	14.37:g.23586839T>C	ENSP00000206513:p.Lys235Glu						p.K235E	NM_001805.3	NP_001796.2	Q15744	CEBPE_HUMAN		GBM - Glioblastoma multiforme(265;0.0064)	2	1227	-	all_cancers(95;4.6e-05)		235					Q15745|Q8IYI2|Q99803	Missense_Mutation	SNP	ENST00000206513.5	37	c.703A>G	CCDS9589.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.116690	0.77323	.	.	ENSG00000092067	ENST00000206513	T	0.47869	0.83	5.34	5.34	0.76211	Basic-leucine zipper (bZIP) transcription factor (2);Basic leucine zipper (1);	0.000000	0.85682	D	0.000000	T	0.66247	0.2770	M	0.86028	2.79	0.34724	D	0.729023	D	0.55605	0.972	P	0.59595	0.86	T	0.79429	-0.1807	10	0.87932	D	0	-31.7041	10.0331	0.42111	0.0:0.0:0.2882:0.7118	.	235	Q15744	CEBPE_HUMAN	E	235	ENSP00000206513:K235E	ENSP00000206513:K235E	K	-	1	0	CEBPE	22656679	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.618000	0.46393	2.025000	0.59659	0.533000	0.62120	AAG		0.622	CEBPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071716.2	NM_001805		7	53	0	0	0	1	0	7	53				
SLC25A12	8604	broad.mit.edu	37	2	172666119	172666119	+	Silent	SNP	G	G	A			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr2:172666119G>A	ENST00000422440.2	-	13	1339	c.1302C>T	c.(1300-1302)ggC>ggT	p.G434G	SLC25A12_ENST00000392592.4_Silent_p.G327G	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	434					aspartate transport (GO:0015810)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	TACTTACACAGCCTCCAGCAA	0.388																																						ENST00000422440.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23						c.(1300-1302)ggC>ggT		solute carrier family 25 (aspartate/glutamate carrier), member 12	L-Aspartic Acid(DB00128)						129.0	136.0	134.0					2																	172666119		2203	4300	6503	SO:0001819	synonymous_variant	8604				gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding	g.chr2:172666119G>A	Y14494	CCDS33327.1	2q24	2013-05-22	2012-03-29		ENSG00000115840	ENSG00000115840		"""Solute carriers"", ""EF-hand domain containing"""	10982	protein-coding gene	gene with protein product		603667	"""solute carrier family 25 (mitochondrial carrier, Aralar), member 12"""			9722566, 10702666, 11566871	Standard	NM_003705		Approved	Aralar	uc002uhh.3	O75746	OTTHUMG00000134290	ENST00000422440.2:c.1302C>T	2.37:g.172666119G>A						SLC25A12_ENST00000392592.4_Silent_p.G327G	p.G434G	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.216)		13	1339	-			434					B3KR64|Q96AM8	Silent	SNP	ENST00000422440.2	37	c.1302C>T	CCDS33327.1																																																																																				0.388	SLC25A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259010.2	NM_003705		6	126	0	0	0	1	0	6	126				
PRICKLE2	166336	broad.mit.edu	37	3	64085458	64085458	+	Missense_Mutation	SNP	C	C	T			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr3:64085458C>T	ENST00000295902.6	-	8	2389	c.1804G>A	c.(1804-1806)Gca>Aca	p.A602T	PRICKLE2_ENST00000564377.1_Missense_Mutation_p.A658T|PRICKLE2-AS1_ENST00000460946.1_RNA|PRICKLE2-AS1_ENST00000476308.1_RNA|RP11-129B22.1_ENST00000482609.1_RNA	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	602					establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		ACTGACTCTGCGCTCCGGAAC	0.552																																						ENST00000295902.6																			0				breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32						c.(1804-1806)Gca>Aca		prickle homolog 2 (Drosophila)							131.0	128.0	129.0					3																	64085458		2203	4300	6503	SO:0001583	missense	166336					cytoplasm|nuclear membrane	zinc ion binding	g.chr3:64085458C>T	AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"""prickle-like 2 (Drosophila)"""			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.1804G>A	3.37:g.64085458C>T	ENSP00000295902:p.Ala602Thr					PRICKLE2_ENST00000564377.1_Missense_Mutation_p.A658T|RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2-AS1_ENST00000460946.1_RNA|PRICKLE2-AS1_ENST00000476308.1_RNA	p.A602T	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)	8	2389	-		Lung NSC(201;0.136)	602					Q0VF44	Missense_Mutation	SNP	ENST00000295902.6	37	c.1804G>A	CCDS2902.1	.	.	.	.	.	.	.	.	.	.	C	11.58	1.681400	0.29872	.	.	ENSG00000163637	ENST00000295902	D	0.85013	-1.93	5.62	5.62	0.85841	.	0.076272	0.56097	D	0.000040	T	0.73885	0.3644	N	0.16166	0.38	0.43230	D	0.995121	B	0.14012	0.009	B	0.06405	0.002	T	0.69327	-0.5174	10	0.07175	T	0.84	-15.0913	19.6573	0.95847	0.0:1.0:0.0:0.0	.	602	Q7Z3G6	PRIC2_HUMAN	T	602	ENSP00000295902:A602T	ENSP00000295902:A602T	A	-	1	0	PRICKLE2	64060498	1.000000	0.71417	0.999000	0.59377	0.969000	0.65631	3.229000	0.51278	2.655000	0.90218	0.591000	0.81541	GCA		0.552	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352219.1	NM_198859		8	106	0	0	0	1	0	8	106				
CDH23	64072	broad.mit.edu	37	10	73544687	73544687	+	Missense_Mutation	SNP	G	G	A	rs188078418		TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr10:73544687G>A	ENST00000224721.6	+	42	5562	c.5557G>A	c.(5557-5559)Gac>Aac	p.D1853N		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1848	Cadherin 18. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CAACGACAACGACCCTGTGCT	0.592																																						ENST00000224721.6																			0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(5557-5559)Gac>Aac		cadherin-related 23		G	ASN/ASP	0,4376		0,0,2188	90.0	95.0	94.0		5542	4.3	1.0	10		94	1,8557	1.2+/-3.3	0,1,4278	no	missense	CDH23	NM_022124.5	23	0,1,6466	AA,AG,GG		0.0117,0.0,0.0077	possibly-damaging	1848/3355	73544687	1,12933	2188	4279	6467	SO:0001583	missense	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73544687G>A	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.5557G>A	10.37:g.73544687G>A	ENSP00000224721:p.Asp1853Asn						p.D1853N	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN			42	5562	+			1848			Cadherin 18.		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37	c.5557G>A		1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	23.9	4.470108	0.84533	0.0	1.17E-4	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721	.	.	.	4.35	4.35	0.52113	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.61788	0.2375	N	0.22421	0.69	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	T	0.57802	-0.7748	9	0.18710	T	0.47	.	17.224	0.86964	0.0:0.0:1.0:0.0	.	1848	Q9H251	CAD23_HUMAN	N	1853;1848;1851	.	ENSP00000224721:D1853N	D	+	1	0	CDH23	73214693	1.000000	0.71417	0.994000	0.49952	0.689000	0.40095	9.772000	0.98984	2.131000	0.65755	0.305000	0.20034	GAC		0.592	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		15	44	0	0	0	1	0	15	44				
CUL9	23113	broad.mit.edu	37	6	43182853	43182853	+	Missense_Mutation	SNP	G	G	C			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr6:43182853G>C	ENST00000252050.4	+	30	5809	c.5725G>C	c.(5725-5727)Gga>Cga	p.G1909R	RP3-330M21.5_ENST00000500590.1_RNA|CUL9_ENST00000354495.3_Missense_Mutation_p.G1799R|CUL9_ENST00000372647.2_Missense_Mutation_p.G1881R	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1909					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						AAATCCTCCTGGAACCCTGGG	0.567																																						ENST00000252050.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						c.(5725-5727)Gga>Cga		cullin 9							96.0	99.0	98.0					6																	43182853		2203	4300	6503	SO:0001583	missense	23113				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	g.chr6:43182853G>C	AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.5725G>C	6.37:g.43182853G>C	ENSP00000252050:p.Gly1909Arg					RP3-330M21.5_ENST00000500590.1_RNA|CUL9_ENST00000372647.2_Missense_Mutation_p.G1881R|CUL9_ENST00000354495.3_Missense_Mutation_p.G1799R	p.G1909R	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN			30	5809	+			1909					O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	ENST00000252050.4	37	c.5725G>C	CCDS4890.1	.	.	.	.	.	.	.	.	.	.	G	7.693	0.691543	0.15039	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.72942	-0.7;-0.7;-0.54	4.81	2.85	0.33270	Cullin protein, neddylation domain (1);	0.216395	0.38326	N	0.001733	T	0.19287	0.0463	N	0.17474	0.49	0.26344	N	0.97731	P;B;B	0.34462	0.454;0.39;0.39	B;B;B	0.31290	0.082;0.127;0.127	T	0.38134	-0.9675	10	0.02654	T	1	-12.5862	3.2712	0.06883	0.221:0.0:0.5705:0.2085	.	1799;1881;1909	Q8IWT3-3;E9PEZ1;Q8IWT3	.;.;CUL9_HUMAN	R	1909;1799;1881	ENSP00000252050:G1909R;ENSP00000346490:G1799R;ENSP00000361730:G1881R	ENSP00000252050:G1909R	G	+	1	0	CUL9	43290831	0.898000	0.30612	0.872000	0.34217	0.977000	0.68977	1.313000	0.33585	1.239000	0.43787	0.655000	0.94253	GGA		0.567	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		31	57	0	0	0	1	0	31	57				
NCKAP5L	57701	broad.mit.edu	37	12	50187215	50187215	+	Splice_Site	SNP	G	G	A	rs80286572	byFrequency	TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr12:50187215G>A	ENST00000335999.6	-	10	3461	c.3260C>T	c.(3259-3261)cCg>cTg	p.P1087L		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	1083	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						CTCGCTGCTCGGCTGTGTGGG	0.622													G|||	14	0.00279553	0.0098	0.0	5008	,	,		15411	0.001		0.0	False		,,,				2504	0.0					ENST00000335999.6																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						c.e10-1		NCK-associated protein 5-like		G	LEU/PRO	29,4261		0,29,2116	43.0	53.0	50.0		3260	0.2	0.2	12	dbSNP_131	50	1,8459		0,1,4229	yes	missense-near-splice	NCKAP5L	NM_001037806.3	98	0,30,6345	AA,AG,GG		0.0118,0.676,0.2353	benign	1087/1335	50187215	30,12720	2145	4230	6375	SO:0001630	splice_region_variant	57701							g.chr12:50187215G>A	AB046822	CCDS41781.2	12q13.12	2009-08-14	2009-08-14	2009-08-14	ENSG00000167566	ENSG00000167566			29321	protein-coding gene	gene with protein product		615104	"""KIAA1602"""	KIAA1602			Standard	NM_001037806		Approved		uc009zlk.2	Q9HCH0	OTTHUMG00000156969	ENST00000335999.6:c.3259-1C>T	12.37:g.50187215G>A							p.P1087_splice	NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN			10	3461	-			1083			Pro-rich.		Q2TB26|Q71RH1|Q8N4W1|Q96HX2	Splice_Site	SNP	ENST00000335999.6	37	c.3258_splice	CCDS41781.2	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	G	10.25	1.297966	0.23650	0.00676	1.18E-4	ENSG00000167566	ENST00000335999;ENST00000354423	T	0.39592	1.07	4.29	0.153	0.14897	.	0.374275	0.19868	N	0.104266	T	0.18002	0.0432	L	0.36672	1.1	0.23533	N	0.997471	B;B;B	0.17667	0.003;0.003;0.023	B;B;B	0.11329	0.001;0.002;0.006	T	0.08932	-1.0698	10	0.25106	T	0.35	-1.3467	3.3394	0.07113	0.4051:0.0:0.414:0.1809	.	1061;1083;1083	E2QRB5;Q9HCH0;Q9HCH0-2	.;NCK5L_HUMAN;.	L	1087;1061	ENSP00000337998:P1087L	ENSP00000337998:P1087L	P	-	2	0	NCKAP5L	48473482	0.005000	0.15991	0.215000	0.23724	0.482000	0.33219	0.274000	0.18680	0.206000	0.20587	0.655000	0.94253	CCG		0.622	NCKAP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346884.2	XM_035497	Missense_Mutation	3	54	0	0	0	1	0	3	54				
RILPL2	196383	broad.mit.edu	37	12	123915096	123915096	+	Silent	SNP	C	C	T			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr12:123915096C>T	ENST00000280571.8	-	2	746	c.450G>A	c.(448-450)tcG>tcA	p.S150S		NM_145058.1	NP_659495.1	Q969X0	RIPL2_HUMAN	Rab interacting lysosomal protein-like 2	150	RILP-like.				epithelial cell morphogenesis (GO:0003382)|intracellular protein transport (GO:0006886)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|primary cilium (GO:0072372)	identical protein binding (GO:0042802)			endometrium(1)|large_intestine(2)|lung(2)|skin(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000546)|Epithelial(86;0.00179)|all cancers(50;0.0168)		CCAGGAGCTGCGACTTGAGTT	0.582																																						ENST00000280571.8																			0				endometrium(1)|large_intestine(2)|lung(2)|skin(1)	6						c.(448-450)tcG>tcA		Rab interacting lysosomal protein-like 2							135.0	128.0	131.0					12																	123915096		2203	4300	6503	SO:0001819	synonymous_variant	196383					cytosol|plasma membrane	identical protein binding	g.chr12:123915096C>T	AB085763	CCDS9248.1	12q24.31	2007-11-27				ENSG00000150977			28787	protein-coding gene	gene with protein product		614093				14668488	Standard	NM_145058		Approved	MGC7036, FLJ30380, FLJ32372	uc001uey.1	Q969X0		ENST00000280571.8:c.450G>A	12.37:g.123915096C>T							p.S150S	NM_145058.1	NP_659495.1	Q969X0	RIPL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000546)|Epithelial(86;0.00179)|all cancers(50;0.0168)	2	746	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		150			RILP-like.			Silent	SNP	ENST00000280571.8	37	c.450G>A	CCDS9248.1																																																																																				0.582	RILPL2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_145058		4	99	0	0	0	1	0	4	99				
TMEM63B	55362	broad.mit.edu	37	6	44119747	44119747	+	Splice_Site	SNP	T	T	C			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr6:44119747T>C	ENST00000259746.9	+	19	2019		c.e19+2		TMEM63B_ENST00000323267.6_Splice_Site			Q5T3F8	CSCL2_HUMAN	transmembrane protein 63B						ion transport (GO:0006811)	integral component of membrane (GO:0016021)	nucleotide binding (GO:0000166)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			GTGAAGCGGGTACGGCCGCCT	0.697											OREG0017465	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000259746.9																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35						c.e19+2		transmembrane protein 63B							15.0	12.0	13.0					6																	44119747		2199	4277	6476	SO:0001630	splice_region_variant	55362					integral to membrane	nucleotide binding|protein binding	g.chr6:44119747T>C	BC022095	CCDS34461.1	6p21.1	2008-02-05	2005-07-25	2005-07-25	ENSG00000137216	ENSG00000137216			17735	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 110"""	C6orf110			Standard	XM_005249211		Approved	DKFZp434P0531, dJ421H19.2	uc003owr.3	Q5T3F8	OTTHUMG00000014757	ENST00000259746.9:c.1836+2T>C	6.37:g.44119747T>C			OREG0017465	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	921	TMEM63B_ENST00000323267.6_Splice_Site				Q5T3F8	TM63B_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)		19	2019	+	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)							B9EGU3|Q5T3F9|Q6AHX4|Q6P5A0|Q8N219|Q8NDE1|Q9NSG5	Splice_Site	SNP	ENST00000259746.9	37		CCDS34461.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.690670	0.88735	.	.	ENSG00000137216	ENST00000259746;ENST00000323267;ENST00000371893	.	.	.	5.03	5.03	0.67393	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0814	0.64925	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	TMEM63B	44227725	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.802000	0.85969	2.110000	0.64415	0.455000	0.32223	.		0.697	TMEM63B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040712.2	XM_166410	Intron	4	20	0	0	0	1	0	4	20				
HMGCS1	3157	broad.mit.edu	37	5	43293008	43293008	+	Silent	SNP	A	A	T			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr5:43293008A>T	ENST00000325110.6	-	9	1457	c.1251T>A	c.(1249-1251)ggT>ggA	p.G417G	HMGCS1_ENST00000433297.2_Silent_p.G417G|CTD-2636A23.2_ENST00000569313.1_RNA	NM_001098272.2	NP_001091742.1	Q01581	HMCS1_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)	417					brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|lipid metabolic process (GO:0006629)|liver development (GO:0001889)|male gonad development (GO:0008584)|response to acid chemical (GO:0001101)|response to drug (GO:0042493)|response to lipoprotein particle (GO:0055094)|response to low light intensity stimulus (GO:0009645)|response to purine-containing compound (GO:0014074)|response to tellurium ion (GO:0046690)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hydroxymethylglutaryl-CoA synthase activity (GO:0004421)|isomerase activity (GO:0016853)|organic acid binding (GO:0043177)			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	15						CTGGTGCCACACCAGTTCTTG	0.353																																						ENST00000325110.6																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	15						c.(1249-1251)ggT>ggA		3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)							73.0	77.0	75.0					5																	43293008		2202	4300	6502	SO:0001819	synonymous_variant	3157				cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	hydroxymethylglutaryl-CoA synthase activity	g.chr5:43293008A>T		CCDS34154.1	5p14-p13	2012-10-02	2010-04-30			ENSG00000112972	2.3.3.10		5007	protein-coding gene	gene with protein product	"""3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) synthase"""	142940	"""3-hydroxy-3-methylglutaryl-Coenzyme A synthase 1 (soluble)"""	HMGCS			Standard	NM_001098272		Approved		uc003jnq.5	Q01581		ENST00000325110.6:c.1251T>A	5.37:g.43293008A>T						HMGCS1_ENST00000433297.2_Silent_p.G417G	p.G417G	NM_001098272.2	NP_001091742.1	Q01581	HMCS1_HUMAN			9	1457	-			417					B2RDL8	Silent	SNP	ENST00000325110.6	37	c.1251T>A	CCDS34154.1																																																																																				0.353	HMGCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368022.1			13	142	0	0	0	1	0	13	142				
TESC	54997	broad.mit.edu	37	12	117486955	117486955	+	Missense_Mutation	SNP	C	C	T			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr12:117486955C>T	ENST00000335209.7	-	4	404	c.218G>A	c.(217-219)cGc>cAc	p.R73H	TESC_ENST00000535198.1_5'UTR|TESC_ENST00000541210.1_Missense_Mutation_p.R46H|TESC_ENST00000392545.4_Missense_Mutation_p.R126H			Q96BS2	CHP3_HUMAN	tescalcin	73					cell differentiation (GO:0030154)|cellular response to retinoic acid (GO:0071300)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell proliferation (GO:0008285)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of sodium:proton antiporter activity (GO:0032417)|positive regulation of transcription, DNA-templated (GO:0045893)|protein maturation (GO:0051604)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of cell adhesion mediated by integrin (GO:0033628)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|magnesium ion binding (GO:0000287)|phosphatase inhibitor activity (GO:0019212)|protein homodimerization activity (GO:0042803)|protein kinase inhibitor activity (GO:0004860)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0297)		GGGTCCCTTGCGCAGGTTCCT	0.537																																						ENST00000335209.7																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6						c.(217-219)cGc>cAc		tescalcin							118.0	110.0	112.0					12																	117486955		2203	4300	6503	SO:0001583	missense	54997				negative regulation of cell proliferation|positive regulation of megakaryocyte differentiation|positive regulation of transcription, DNA-dependent|regulation of cell adhesion mediated by integrin	cytoplasm|lamellipodium|nucleus|plasma membrane|ruffle	calcium ion binding|magnesium ion binding|phosphatase inhibitor activity|protein binding	g.chr12:117486955C>T	AF443207	CCDS9183.2, CCDS9183.3, CCDS53835.1	12q24.22	2013-01-10			ENSG00000088992	ENSG00000088992		"""EF-hand domain containing"""	26065	protein-coding gene	gene with protein product	"""calcineurin-like EF hand protein 3"""	611585				11145610, 11696366, 12809501, 14661968	Standard	NM_017899		Approved	TSC, FLJ20607, CHP3	uc001twh.3	Q96BS2	OTTHUMG00000144168	ENST00000335209.7:c.218G>A	12.37:g.117486955C>T	ENSP00000334785:p.Arg73His					TESC_ENST00000392545.4_Missense_Mutation_p.R126H|TESC_ENST00000535198.1_5'UTR|TESC_ENST00000541210.1_Missense_Mutation_p.R46H	p.R73H			Q96BS2	TESC_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0297)	4	404	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		73					F5H1Y5|Q9NWT9	Missense_Mutation	SNP	ENST00000335209.7	37	c.218G>A	CCDS9183.3	.	.	.	.	.	.	.	.	.	.	C	13.98	2.397995	0.42512	.	.	ENSG00000088992	ENST00000335209;ENST00000392545;ENST00000541210	T;T;T	0.54866	0.55;0.55;1.22	5.92	5.92	0.95590	EF-hand-like domain (1);	0.178711	0.50627	D	0.000107	T	0.39911	0.1096	L	0.29908	0.895	0.80722	D	1	B	0.12630	0.006	B	0.08055	0.003	T	0.17289	-1.0374	10	0.21540	T	0.41	-21.8896	13.1034	0.59233	0.0:0.9233:0.0:0.0767	.	73	Q96BS2	TESC_HUMAN	H	73;126;46	ENSP00000334785:R73H;ENSP00000376328:R126H;ENSP00000445689:R46H	ENSP00000334785:R73H	R	-	2	0	TESC	115971338	0.998000	0.40836	1.000000	0.80357	0.769000	0.43574	2.718000	0.47236	2.811000	0.96726	0.555000	0.69702	CGC		0.537	TESC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291363.2	NM_017899		4	50	0	0	0	1	0	4	50				
ZNF664	144348	broad.mit.edu	37	12	124496834	124496834	+	Missense_Mutation	SNP	T	T	G			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr12:124496834T>G	ENST00000539644.1	+	6	1973	c.143T>G	c.(142-144)aTt>aGt	p.I48S	FAM101A_ENST00000545615.1_Intron|ZNF664_ENST00000337815.4_Missense_Mutation_p.I48S|ZNF664_ENST00000392404.3_Missense_Mutation_p.I48S|ZNF664_ENST00000538932.2_Missense_Mutation_p.I48S			Q8N3J9	ZN664_HUMAN	zinc finger protein 664	48					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|large_intestine(5)|lung(6)|skin(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)		GAACTTCATATTCATTGGAGA	0.353																																						ENST00000539644.1																			0				breast(1)|large_intestine(5)|lung(6)|skin(1)	13						c.(142-144)aTt>aGt		zinc finger protein 664							90.0	100.0	96.0					12																	124496834		2203	4300	6503	SO:0001583	missense	144348				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:124496834T>G		CCDS9257.1	12q24.31	2013-05-10			ENSG00000179195	ENSG00000179195		"""Zinc fingers, C2H2-type"""	25406	protein-coding gene	gene with protein product			"""zinc finger protein 176"""	ZNF176		12477932	Standard	NM_001204298		Approved	ZFOC1, DKFZp761B128	uc001uga.3	Q8N3J9	OTTHUMG00000168596	ENST00000539644.1:c.143T>G	12.37:g.124496834T>G	ENSP00000441405:p.Ile48Ser					ZNF664_ENST00000392404.3_Missense_Mutation_p.I48S|RP11-522N14.1_ENST00000540762.1_RNA|ZNF664_ENST00000538932.2_Missense_Mutation_p.I48S|ZNF664_ENST00000337815.4_Missense_Mutation_p.I48S	p.I48S			Q8N3J9	ZN664_HUMAN		Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)	6	1973	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		48					B3KP97|Q15914|Q3ZCQ7	Missense_Mutation	SNP	ENST00000539644.1	37	c.143T>G	CCDS9257.1	.	.	.	.	.	.	.	.	.	.	T	3.719	-0.057861	0.07317	.	.	ENSG00000179195	ENST00000539644;ENST00000392404;ENST00000538932;ENST00000337815	T;T;T;T	0.15256	2.44;2.44;2.44;2.44	4.4	4.4	0.53042	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.40908	D	0.000987	T	0.07818	0.0196	N	0.04148	-0.265	0.09310	N	1	B	0.31730	0.337	B	0.30943	0.122	T	0.33111	-0.9881	9	.	.	.	-30.4371	12.2516	0.54601	0.0:0.0:0.0:1.0	.	48	Q8N3J9	ZN664_HUMAN	S	48	ENSP00000441405:I48S;ENSP00000376205:I48S;ENSP00000440645:I48S;ENSP00000337320:I48S	.	I	+	2	0	ZNF664	123062787	0.000000	0.05858	0.697000	0.30258	0.916000	0.54674	-0.423000	0.07034	2.202000	0.70862	0.533000	0.62120	ATT		0.353	ZNF664-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400365.1	NM_152437		13	86	0	0	0	1	0	13	86				
EIF3B	8662	broad.mit.edu	37	7	2415103	2415103	+	Missense_Mutation	SNP	G	G	A	rs139537965	byFrequency	TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr7:2415103G>A	ENST00000360876.4	+	14	2025	c.1969G>A	c.(1969-1971)Gtc>Atc	p.V657I	EIF3B_ENST00000397011.2_Missense_Mutation_p.V657I	NM_001037283.1	NP_001032360.1			eukaryotic translation initiation factor 3, subunit B											breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		GGCTTCCGACGTCGAATGGGA	0.552																																						ENST00000360876.4																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24						c.(1969-1971)Gtc>Atc		eukaryotic translation initiation factor 3, subunit B		G	ILE/VAL,ILE/VAL	0,4406		0,0,2203	207.0	149.0	169.0		1969,1969	4.6	0.1	7	dbSNP_134	169	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	EIF3B	NM_001037283.1,NM_003751.3	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	657/815,657/815	2415103	1,13005	2203	4300	6503	SO:0001583	missense	8662				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity	g.chr7:2415103G>A	U62583	CCDS5332.1	7p22	2013-02-12	2007-07-27	2007-07-27	ENSG00000106263	ENSG00000106263		"""RNA binding motif (RRM) containing"""	3280	protein-coding gene	gene with protein product		603917	"""eukaryotic translation initiation factor 3, subunit 9 eta, 116kDa"""	EIF3S9		8995410	Standard	NM_001037283		Approved	PRT1, eIF3b	uc003sly.3	P55884	OTTHUMG00000022839	ENST00000360876.4:c.1969G>A	7.37:g.2415103G>A	ENSP00000354125:p.Val657Ile					EIF3B_ENST00000397011.2_Missense_Mutation_p.V657I	p.V657I	NM_001037283.1	NP_001032360.1	P55884	EIF3B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)	14	2025	+		Ovarian(82;0.0253)	657						Missense_Mutation	SNP	ENST00000360876.4	37	c.1969G>A	CCDS5332.1	.	.	.	.	.	.	.	.	.	.	G	9.703	1.154881	0.21371	0.0	1.16E-4	ENSG00000106263	ENST00000314800;ENST00000360876;ENST00000397011;ENST00000489558	T;T	0.05925	3.37;3.37	5.46	4.59	0.56863	Translation initiation factor 2A, beta propellor-like domain (1);Six-bladed beta-propeller, TolB-like (1);	0.053071	0.85682	D	0.000000	T	0.05777	0.0151	L	0.31157	0.91	0.51767	D	0.999933	B	0.33266	0.404	B	0.32211	0.142	T	0.47182	-0.9137	10	0.21540	T	0.41	-37.8853	13.8681	0.63600	0.0744:0.0:0.9256:0.0	.	657	P55884	EIF3B_HUMAN	I	657;657;657;581	ENSP00000354125:V657I;ENSP00000380206:V657I	ENSP00000316638:V657I	V	+	1	0	EIF3B	2381629	1.000000	0.71417	0.066000	0.19879	0.015000	0.08874	9.670000	0.98625	1.319000	0.45190	-0.136000	0.14681	GTC		0.552	EIF3B-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207006.1			11	118	0	0	0	1	0	11	118				
SULF1	23213	broad.mit.edu	37	8	70515888	70515888	+	Missense_Mutation	SNP	G	G	C			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr8:70515888G>C	ENST00000260128.4	+	12	1961	c.1244G>C	c.(1243-1245)aGa>aCa	p.R415T	SULF1_ENST00000402687.4_Missense_Mutation_p.R415T|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000419716.3_Missense_Mutation_p.R415T|SULF1_ENST00000458141.2_Missense_Mutation_p.R415T	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	415					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			CTAGTGGAAAGAGGGTAATTA	0.398																																						ENST00000260128.4																			0				breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(1243-1245)aGa>aCa		sulfatase 1							101.0	97.0	98.0					8																	70515888		2203	4300	6503	SO:0001583	missense	23213				apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr8:70515888G>C	AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.1244G>C	8.37:g.70515888G>C	ENSP00000260128:p.Arg415Thr					SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000419716.3_Missense_Mutation_p.R415T|SULF1_ENST00000458141.2_Missense_Mutation_p.R415T|SULF1_ENST00000402687.4_Missense_Mutation_p.R415T	p.R415T	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)		12	1961	+	Breast(64;0.0654)		415					Q86YV8|Q8NCA2|Q9UPS5	Missense_Mutation	SNP	ENST00000260128.4	37	c.1244G>C	CCDS6204.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.930748	0.92389	.	.	ENSG00000137573	ENST00000458141;ENST00000260128;ENST00000402687;ENST00000419716	D;D;D;D	0.99136	-5.47;-5.47;-5.47;-5.47	5.92	5.92	0.95590	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.98909	0.9630	M	0.79343	2.45	0.80722	D	1	B	0.29766	0.256	B	0.42422	0.387	D	0.98440	1.0586	10	0.66056	D	0.02	.	20.3343	0.98733	0.0:0.0:1.0:0.0	.	415	Q8IWU6	SULF1_HUMAN	T	415	ENSP00000403040:R415T;ENSP00000260128:R415T;ENSP00000385704:R415T;ENSP00000390315:R415T	ENSP00000260128:R415T	R	+	2	0	SULF1	70678442	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.822000	0.97130	0.650000	0.86243	AGA		0.398	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	NM_015170		3	46	0	0	0	1	0	3	46				
NID2	22795	broad.mit.edu	37	14	52478320	52478320	+	Missense_Mutation	SNP	G	G	A	rs117206856	byFrequency	TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr14:52478320G>A	ENST00000216286.5	-	17	3501	c.3502C>T	c.(3502-3504)Cgt>Tgt	p.R1168C	NID2_ENST00000541773.1_Missense_Mutation_p.R1067C	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	1168					basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					AGACCAGCACGGCTGATTGTC	0.493													g|||	2	0.000399361	0.0	0.0	5008	,	,		20085	0.0		0.002	False		,,,				2504	0.0					ENST00000216286.5																			0				NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87						c.(3502-3504)Cgt>Tgt		nidogen 2 (osteonidogen)		G	CYS/ARG	0,4406		0,0,2203	153.0	126.0	135.0		3502	5.0	1.0	14	dbSNP_132	135	1,8599	1.2+/-3.3	0,1,4299	yes	missense	NID2	NM_007361.3	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1168/1376	52478320	1,13005	2203	4300	6503	SO:0001583	missense	22795					basement membrane	calcium ion binding|collagen binding	g.chr14:52478320G>A	AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.3502C>T	14.37:g.52478320G>A	ENSP00000216286:p.Arg1168Cys					NID2_ENST00000541773.1_Missense_Mutation_p.R1067C	p.R1168C	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN			17	3501	-	Breast(41;0.0639)|all_epithelial(31;0.123)		1168					A8K6I7|B4DU19|O43710	Missense_Mutation	SNP	ENST00000216286.5	37	c.3502C>T	CCDS9706.1	2|2	9.157509157509158E-4|9.157509157509158E-4	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	2|2	0.002638522427440633|0.002638522427440633	G|G	15.75|15.75	2.926859|2.926859	0.52759|0.52759	0.0|0.0	1.16E-4|1.16E-4	ENSG00000087303|ENSG00000087303	ENST00000556572|ENST00000216286;ENST00000316204;ENST00000541773	.|T;T	.|0.34275	.|1.37;1.37	5.92|5.92	5.0|5.0	0.66597|0.66597	.|Six-bladed beta-propeller, TolB-like (1);	.|0.093016	.|0.64402	.|N	.|0.000001	T|T	0.70141|0.70141	0.3190|0.3190	H|H	0.95043|0.95043	3.615|3.615	0.46725|0.46725	D|D	0.999177|0.999177	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.997;0.999;0.972	T|T	0.78181|0.78181	-0.2304|-0.2304	5|10	.|0.66056	.|D	.|0.02	.|.	13.9943|13.9943	0.64386|0.64386	0.0:0.0:0.6612:0.3387|0.0:0.0:0.6612:0.3387	.|.	.|762;1067;1168	.|E7EPP3;Q14112-2;Q14112	.|.;.;NID2_HUMAN	L|C	436|1168;762;1067	.|ENSP00000216286:R1168C;ENSP00000443730:R1067C	.|ENSP00000216286:R1168C	P|R	-|-	2|1	0|0	NID2|NID2	51548070|51548070	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.191000|0.191000	0.23601|0.23601	2.311000|2.311000	0.43717|0.43717	2.809000|2.809000	0.96659|0.96659	0.655000|0.655000	0.94253|0.94253	CCG|CGT		0.493	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1			33	120	0	0	0	1	0	33	120				
NME9	347736	broad.mit.edu	37	3	138024911	138024911	+	Missense_Mutation	SNP	T	T	G			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr3:138024911T>G	ENST00000333911.3	-	8	598	c.571A>C	c.(571-573)Aca>Cca	p.T191P	NME9_ENST00000317876.4_Missense_Mutation_p.T130P|NME9_ENST00000484930.1_Missense_Mutation_p.T128P|NME9_ENST00000383180.2_Missense_Mutation_p.T130P|NME9_ENST00000536478.1_Missense_Mutation_p.T130P|NME9_ENST00000341790.5_Missense_Mutation_p.T128P			Q86XW9	TXND6_HUMAN	NME/NM23 family member 9	191	NDK.				cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)										TCTTCATTTGTTAGAATTTCA	0.363																																						ENST00000383180.2																			0											c.(388-390)Aca>Cca		NME/NM23 family member 9							125.0	122.0	123.0					3																	138024911		2203	4300	6503	SO:0001583	missense	347736				cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	cytoplasm|cytoskeleton	ATP binding|nucleoside diphosphate kinase activity	g.chr3:138024911T>G	AF196568	CCDS3099.1	3q22.3	2012-05-18	2012-05-18	2011-08-24	ENSG00000181322	ENSG00000181322			21343	protein-coding gene	gene with protein product			"""thioredoxin domain containing 6"", ""NME gene family member 9"", ""NME family member 9"""	TXNDC6		12569107, 19852809	Standard	NM_178130		Approved	TXL-2, NM23-H9	uc003ese.1	Q86XW9	OTTHUMG00000159823	ENST00000333911.3:c.571A>C	3.37:g.138024911T>G	ENSP00000335444:p.Thr191Pro					NME9_ENST00000341790.5_Missense_Mutation_p.T128P|NME9_ENST00000317876.4_Missense_Mutation_p.T130P|NME9_ENST00000536478.1_Missense_Mutation_p.T130P|NME9_ENST00000484930.1_Missense_Mutation_p.T128P|NME9_ENST00000333911.3_Missense_Mutation_p.T191P	p.T130P	NM_178130.2	NP_835231.1	Q86XW9	TXND6_HUMAN			9	625	-			191					Q7Z4A8|Q8N1V7	Missense_Mutation	SNP	ENST00000333911.3	37	c.388A>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.37|14.37	2.516517|2.516517	0.44763|0.44763	.|.	.|.	ENSG00000181322|ENSG00000181322	ENST00000474690|ENST00000383180;ENST00000317876;ENST00000484930;ENST00000341790;ENST00000536478;ENST00000333911;ENST00000475751	.|T;T;T;T;T;T;T	.|0.55413	.|0.52;0.52;0.52;0.52;0.52;0.52;0.52	5.16|5.16	-3.24|-3.24	0.05094|0.05094	.|.	.|0.109676	.|0.64402	.|D	.|0.000008	T|T	0.42337|0.42337	0.1198|0.1198	L|L	0.27053|0.27053	0.805|0.805	0.20403|0.20403	N|N	0.999906|0.999906	.|P;D;P	.|0.54397	.|0.941;0.966;0.731	.|P;P;B	.|0.53809	.|0.735;0.602;0.242	T|T	0.44314|0.44314	-0.9336|-0.9336	5|10	.|0.56958	.|D	.|0.05	-1.9234|-1.9234	6.7553|6.7553	0.23510|0.23510	0.1412:0.4894:0.0:0.3694|0.1412:0.4894:0.0:0.3694	.|.	.|128;191;130	.|Q86XW9-3;Q86XW9;Q86XW9-2	.|.;TXND6_HUMAN;.	T|P	121|130;130;128;128;130;191;191	.|ENSP00000372667:T130P;ENSP00000321929:T130P;ENSP00000419882:T128P;ENSP00000341084:T128P;ENSP00000440143:T130P;ENSP00000335444:T191P;ENSP00000419147:T191P	.|ENSP00000321929:T130P	N|T	-|-	2|1	0|0	TXNDC6|TXNDC6	139507601|139507601	0.992000|0.992000	0.36948|0.36948	0.000000|0.000000	0.03702|0.03702	0.929000|0.929000	0.56500|0.56500	0.744000|0.744000	0.26245|0.26245	-0.507000|-0.507000	0.06549|0.06549	-0.353000|-0.353000	0.07706|0.07706	AAC|ACA		0.363	NME9-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000357583.1	NM_178130		4	69	0	0	0	1	0	4	69				
KRTAP10-7	386675	broad.mit.edu	37	21	46021151	46021151	+	Silent	SNP	G	G	A			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr21:46021151G>A	ENST00000380102.2	+	1	655	c.630G>A	c.(628-630)acG>acA	p.T210T	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	210	30 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						GCTCCTGCACGCCCTCGTGCT	0.667																																						ENST00000380102.2																			0				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						c.(628-630)acG>acA		keratin associated protein 10-7							51.0	51.0	51.0					21																	46021151		2202	4280	6482	SO:0001819	synonymous_variant	386675					keratin filament		g.chr21:46021151G>A	AJ566385	CCDS74803.1	21q22.3	2014-04-10			ENSG00000205441	ENSG00000272804		"""Keratin associated proteins"""	22970	protein-coding gene	gene with protein product				KRTAP18-7			Standard	NM_198689		Approved	KAP10.7, KAP18.7	uc002zfn.4	P60409	OTTHUMG00000188307	ENST00000380102.2:c.630G>A	21.37:g.46021151G>A						TSPEAR_ENST00000323084.4_Intron	p.T210T	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN			1	655	+			210			30 X 5 AA repeats of C-C-X(3).		Q0VDJ8|Q70LJ2	Silent	SNP	ENST00000380102.2	37	c.630G>A																																																																																					0.667	KRTAP10-7-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000128038.1	NM_198689		4	100	0	0	0	1	0	4	100				
ST6GAL2	84620	broad.mit.edu	37	2	107459775	107459775	+	Missense_Mutation	SNP	C	C	T			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr2:107459775C>T	ENST00000409382.3	-	2	1269	c.659G>A	c.(658-660)cGc>cAc	p.R220H	ST6GAL2_ENST00000409087.3_Missense_Mutation_p.R220H|AC016994.2_ENST00000425419.1_RNA|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.R220H	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	220					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CTTCTGCAGGCGCGGGTTCAG	0.647																																						ENST00000409382.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						c.(658-660)cGc>cAc		ST6 beta-galactosamide alpha-2,6-sialyltranferase 2							39.0	40.0	40.0					2																	107459775		2203	4300	6503	SO:0001583	missense	84620				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	g.chr2:107459775C>T	AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"""sialyltransferase 2 (monosialoganglioside sialyltransferase)"""	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.659G>A	2.37:g.107459775C>T	ENSP00000386942:p.Arg220His					ST6GAL2_ENST00000409087.3_Missense_Mutation_p.R220H|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.R220H	p.R220H	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN			2	1269	-			220					D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Missense_Mutation	SNP	ENST00000409382.3	37	c.659G>A	CCDS2073.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.856093	0.91355	.	.	ENSG00000144057	ENST00000361686;ENST00000409382;ENST00000409087	T;T;T	0.50548	1.84;1.84;0.74	5.14	4.26	0.50523	.	0.234460	0.45361	D	0.000376	T	0.70937	0.3281	M	0.85373	2.75	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.975	T	0.76812	-0.2821	10	0.87932	D	0	-17.5576	14.2741	0.66167	0.1495:0.8505:0.0:0.0	.	220;220	Q96JF0-2;Q96JF0	.;SIAT2_HUMAN	H	220	ENSP00000355273:R220H;ENSP00000386942:R220H;ENSP00000387332:R220H	ENSP00000355273:R220H	R	-	2	0	ST6GAL2	106826207	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	7.329000	0.79170	1.161000	0.42604	0.561000	0.74099	CGC		0.647	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330065.1	NM_032528		6	12	0	0	0	1	0	6	12				
MIEF1	54471	broad.mit.edu	37	22	39908032	39908032	+	Splice_Site	SNP	G	G	C			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr22:39908032G>C	ENST00000325301.2	+	4	746		c.e4+1		MIEF1_ENST00000402881.1_Splice_Site|MIEF1_ENST00000404569.1_Splice_Site	NM_019008.4	NP_061881.2	Q9NQG6	MID51_HUMAN	mitochondrial elongation factor 1						mitochondrial fission (GO:0000266)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein targeting to membrane (GO:0090314)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|GDP binding (GO:0019003)|identical protein binding (GO:0042802)	p.?(1)									TTCGACACAGGTGAGAAGGGC	0.597																																						ENST00000325301.2																			1	Unknown(1)	p.?(1)	lung(1)	central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)	16						c.e4+1									58.0	65.0	63.0					22																	39908032		2203	4300	6503	SO:0001630	splice_region_variant	0					integral to membrane|mitochondrion		g.chr22:39908032G>C	AL365515	CCDS13995.1	22q13.1	2013-09-23	2013-09-23	2013-09-23	ENSG00000100335	ENSG00000100335			25979	protein-coding gene	gene with protein product		615497	"""Smith-Magenis syndrome chromosome region, candidate 7-like"""	SMCR7L		21508961, 21701560	Standard	NM_019008		Approved	FLJ20232, MiD51	uc003axx.3	Q9NQG6	OTTHUMG00000151105	ENST00000325301.2:c.322+1G>C	22.37:g.39908032G>C						SMCR7L_ENST00000404569.1_Splice_Site|SMCR7L_ENST00000402881.1_Splice_Site		NM_019008.4	NP_061881.2	Q9NQG6	SMC7L_HUMAN			4	746	+	Melanoma(58;0.04)							Q7L890|Q9BUI3	Splice_Site	SNP	ENST00000325301.2	37		CCDS13995.1	.	.	.	.	.	.	.	.	.	.	G	14.34	2.505378	0.44558	.	.	ENSG00000100335	ENST00000402881;ENST00000325301;ENST00000404569	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2227	0.98327	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SMCR7L	38237978	1.000000	0.71417	1.000000	0.80357	0.113000	0.19764	9.465000	0.97660	2.778000	0.95560	0.650000	0.86243	.		0.597	MIEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321325.1	NM_019008	Intron	5	46	0	0	0	1	0	5	46				
IL17RB	55540	broad.mit.edu	37	3	53892809	53892809	+	Missense_Mutation	SNP	T	T	G			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr3:53892809T>G	ENST00000288167.3	+	9	820	c.811T>G	c.(811-813)Tgc>Ggc	p.C271G	RP11-884K10.7_ENST00000607783.1_RNA	NM_018725.3	NP_061195.2	Q9NRM6	I17RB_HUMAN	interleukin 17 receptor B	271					cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|regulation of cell growth (GO:0001558)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	cytokine receptor activity (GO:0004896)			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)		AGTTGTGCTCTGCCCACAAAC	0.493																																						ENST00000288167.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)	13						c.(811-813)Tgc>Ggc		interleukin 17 receptor B							94.0	82.0	86.0					3																	53892809		2203	4300	6503	SO:0001583	missense	55540				defense response|regulation of cell growth	extracellular region|integral to plasma membrane	cytokine receptor activity	g.chr3:53892809T>G	AF212365	CCDS2874.1	3p21.1	2008-02-05		2003-07-09	ENSG00000056736	ENSG00000056736		"""Interleukins and interleukin receptors"""	18015	protein-coding gene	gene with protein product		605458	"""interleukin 17B receptor"""	IL17BR		10749887, 10815801	Standard	NM_018725		Approved	IL17RH1, EVI27, CRL4	uc003dha.3	Q9NRM6	OTTHUMG00000158280	ENST00000288167.3:c.811T>G	3.37:g.53892809T>G	ENSP00000288167:p.Cys271Gly						p.C271G	NM_018725.3	NP_061195.2	Q9NRM6	I17RB_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	9	820	+			271					Q9BPZ0|Q9NRL4|Q9NRM5	Missense_Mutation	SNP	ENST00000288167.3	37	c.811T>G	CCDS2874.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.115808	0.77323	.	.	ENSG00000056736	ENST00000288167;ENST00000494338	T;T	0.22539	3.0;1.95	5.89	5.89	0.94794	.	0.000000	0.64402	D	0.000018	T	0.42404	0.1201	M	0.64997	1.995	0.41109	D	0.98572	D	0.89917	1.0	D	0.83275	0.996	T	0.20174	-1.0283	10	0.38643	T	0.18	-20.7985	12.6954	0.57001	0.0:0.0:0.0:1.0	.	271	Q9NRM6	I17RB_HUMAN	G	271;255	ENSP00000288167:C271G;ENSP00000418638:C255G	ENSP00000288167:C271G	C	+	1	0	IL17RB	53867849	0.968000	0.33430	0.846000	0.33378	0.318000	0.28184	3.611000	0.54132	2.251000	0.74343	0.533000	0.62120	TGC		0.493	IL17RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350563.1	NM_172234		4	55	0	0	0	1	0	4	55				
TEX14	56155	broad.mit.edu	37	17	56699054	56699054	+	Missense_Mutation	SNP	G	G	A	rs374732278		TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr17:56699054G>A	ENST00000240361.8	-	5	596	c.511C>T	c.(511-513)Cgg>Tgg	p.R171W	TEX14_ENST00000349033.5_Missense_Mutation_p.R171W|TEX14_ENST00000389934.3_Missense_Mutation_p.R171W			Q8IWB6	TEX14_HUMAN	testis expressed 14	171					attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TAGACAAGCCGCTGCGGGGAG	0.587																																						ENST00000389934.3																			0				breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81						c.(511-513)Cgg>Tgg		testis expressed 14		G	TRP/ARG,TRP/ARG,TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	68.0	59.0	62.0		511,511,511	3.2	1.0	17		62	0,8600		0,0,4300	no	missense,missense,missense	TEX14	NM_001201457.1,NM_031272.4,NM_198393.3	101,101,101	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	possibly-damaging,possibly-damaging,possibly-damaging	171/1498,171/1452,171/1492	56699054	2,13004	2203	4300	6503	SO:0001583	missense	56155					cytoplasm	ATP binding|protein kinase activity	g.chr17:56699054G>A	AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"""cancer/testis antigen 113"""	605792	"""testis expressed sequence 14"""			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.511C>T	17.37:g.56699054G>A	ENSP00000240361:p.Arg171Trp					TEX14_ENST00000240361.8_Missense_Mutation_p.R171W|TEX14_ENST00000349033.5_Missense_Mutation_p.R171W	p.R171W	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN			5	628	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		171					A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Missense_Mutation	SNP	ENST00000240361.8	37	c.511C>T	CCDS56042.1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.949887	0.53186	4.54E-4	0.0	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	T;T;T	0.81163	-1.45;-1.46;-1.39	5.42	3.18	0.36537	.	0.308600	0.27464	N	0.019246	T	0.77130	0.4085	L	0.32530	0.975	0.24468	N	0.994402	D;D;D	0.71674	0.997;0.998;0.998	P;P;P	0.59424	0.724;0.857;0.857	T	0.66048	-0.6020	10	0.46703	T	0.11	-9.0002	3.124	0.06401	0.0902:0.1315:0.4754:0.3029	.	171;171;171	Q8IWB6;Q8IWB6-3;Q8IWB6-2	TEX14_HUMAN;.;.	W	171	ENSP00000240361:R171W;ENSP00000374584:R171W;ENSP00000268910:R171W	ENSP00000240361:R171W	R	-	1	2	TEX14	54054053	0.922000	0.31269	0.997000	0.53966	0.163000	0.22366	2.044000	0.41241	1.426000	0.47256	0.563000	0.77884	CGG		0.587	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1			4	47	0	0	0	1	0	4	47				
NOTCH4	4855	broad.mit.edu	37	6	32180342	32180342	+	Silent	SNP	C	C	A			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr6:32180342C>A	ENST00000375023.3	-	17	2727	c.2589G>T	c.(2587-2589)ggG>ggT	p.G863G	NOTCH4_ENST00000465528.1_5'UTR	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	863	EGF-like 22. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GGAAGGAGGGCCCAGTCTGGA	0.607																																						ENST00000375023.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						c.(2587-2589)ggG>ggT		notch 4							153.0	129.0	137.0					6																	32180342		1510	2708	4218	SO:0001819	synonymous_variant	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32180342C>A		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.2589G>T	6.37:g.32180342C>A						NOTCH4_ENST00000465528.1_5'UTR	p.G863G	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN			17	2727	-			863			EGF-like 22.		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Silent	SNP	ENST00000375023.3	37	c.2589G>T	CCDS34420.1																																																																																				0.607	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			7	67	1	0	2.7689e-08	1	3.24813e-08	7	67				
UBE4A	9354	broad.mit.edu	37	11	118255419	118255419	+	Missense_Mutation	SNP	G	G	T	rs201356695		TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr11:118255419G>T	ENST00000431736.2	+	14	2360	c.2288G>T	c.(2287-2289)tGg>tTg	p.W763L	UBE4A_ENST00000545354.1_Missense_Mutation_p.W228L|UBE4A_ENST00000252108.3_Missense_Mutation_p.W756L					ubiquitination factor E4A											autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		AGATACATGTGGGGGACAGAT	0.408																																						ENST00000252108.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56						c.(2266-2268)tGg>tTg		ubiquitination factor E4A							81.0	76.0	78.0					11																	118255419		2200	4296	6496	SO:0001583	missense	9354				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding	g.chr11:118255419G>T	D50916	CCDS8396.1, CCDS55790.1	11q23.3	2013-01-28	2011-05-19					"""U-box domain containing"""	12499	protein-coding gene	gene with protein product		603753	"""ubiquitination factor E4A (homologous to yeast UFD2)"", ""ubiquitination factor E4A (UFD2 homolog, yeast)"""			10089879	Standard	NM_004788		Approved	UBOX2, UFD2, KIAA0126, E4	uc001psv.3	Q14139	OTTHUMG00000168100	ENST00000431736.2:c.2288G>T	11.37:g.118255419G>T	ENSP00000387362:p.Trp763Leu					UBE4A_ENST00000431736.2_Missense_Mutation_p.W763L|UBE4A_ENST00000545354.1_Missense_Mutation_p.W228L	p.W756L	NM_001204077.1|NM_004788.3	NP_001191006.1|NP_004779.2	Q14139	UBE4A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)	14	2398	+	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	756						Missense_Mutation	SNP	ENST00000431736.2	37	c.2267G>T	CCDS8396.1	.	.	.	.	.	.	.	.	.	.	G	34	5.332762	0.95733	.	.	ENSG00000110344	ENST00000252108;ENST00000431736;ENST00000545354	T;T;T	0.46819	0.86;0.86;0.86	5.97	5.97	0.96955	Ubiquitin conjugation factor E4, core (1);	0.000000	0.85682	D	0.000000	T	0.72170	0.3427	M	0.80616	2.505	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.75020	0.985;0.964	T	0.70857	-0.4758	10	0.46703	T	0.11	-5.8021	20.4387	0.99107	0.0:0.0:1.0:0.0	.	756;763	Q14139;Q14139-2	UBE4A_HUMAN;.	L	756;763;228	ENSP00000252108:W756L;ENSP00000387362:W763L;ENSP00000438918:W228L	ENSP00000252108:W756L	W	+	2	0	UBE4A	117760629	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.836000	0.97738	0.655000	0.94253	TGG		0.408	UBE4A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398143.1	NM_004788		23	28	1	0	4.4004e-07	1	5.06461e-07	23	28				
KRTAP4-6	81871	broad.mit.edu	37	17	39296167	39296167	+	Silent	SNP	A	A	G			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr17:39296167A>G	ENST00000345847.4	-	1	572	c.573T>C	c.(571-573)atT>atC	p.I191I		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	191						keratin filament (GO:0045095)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						GGCAGGTGGAAATGACACAGG	0.627																																						ENST00000345847.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						c.(571-573)atT>atC		keratin associated protein 4-6																																				SO:0001819	synonymous_variant	81871					keratin filament		g.chr17:39296167A>G	AJ406938	CCDS54125.1	17q21.2	2013-06-25			ENSG00000198090	ENSG00000198090		"""Keratin associated proteins"""	18909	protein-coding gene	gene with protein product			"""keratin associated protein 4-15"""	KRTAP4-15			Standard	NM_030976		Approved	KAP4.6, KAP4.15	uc010cxk.2	Q9BYQ5	OTTHUMG00000133634	ENST00000345847.4:c.573T>C	17.37:g.39296167A>G							p.I191I	NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN			1	572	-			187					Q9BYR1	Silent	SNP	ENST00000345847.4	37	c.573T>C	CCDS54125.1																																																																																				0.627	KRTAP4-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257779.1			4	6	0	0	0	1	0	4	6				
ZNF202	7753	broad.mit.edu	37	11	123597404	123597404	+	Silent	SNP	C	C	A			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr11:123597404C>A	ENST00000529691.1	-	7	1467	c.1248G>T	c.(1246-1248)ctG>ctT	p.L416L	ZNF202_ENST00000530393.1_Silent_p.L416L|ZNF202_ENST00000336139.4_Silent_p.L416L			O95125	ZN202_HUMAN	zinc finger protein 202	416					lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		TGTGAGTCCTCAGGTGTCTAA	0.473																																						ENST00000336139.4																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30						c.(1246-1248)ctG>ctT		zinc finger protein 202							123.0	119.0	121.0					11																	123597404		2202	4299	6501	SO:0001819	synonymous_variant	7753				lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:123597404C>A	AF027219	CCDS8443.1	11q23.3	2013-01-09				ENSG00000166261		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12994	protein-coding gene	gene with protein product		603430				9790754	Standard	XM_005271659		Approved	ZKSCAN10, ZSCAN42	uc001pzd.1	O95125		ENST00000529691.1:c.1248G>T	11.37:g.123597404C>A						ZNF202_ENST00000529691.1_Silent_p.L416L|ZNF202_ENST00000530393.1_Silent_p.L416L	p.L416L			O95125	ZN202_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)	8	1610	-		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	416					B0LPH9|Q4JG21|Q9H1B9|Q9NSM4	Silent	SNP	ENST00000529691.1	37	c.1248G>T	CCDS8443.1																																																																																				0.473	ZNF202-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387419.1	NM_003455		12	104	1	0	0.00010058	1	0.00010956	12	104				
MFSD6	54842	broad.mit.edu	37	2	191362263	191362263	+	Missense_Mutation	SNP	C	C	T			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr2:191362263C>T	ENST00000392328.1	+	7	2314	c.1990C>T	c.(1990-1992)Cgc>Tgc	p.R664C	MFSD6_ENST00000535751.1_Missense_Mutation_p.R126C|MFSD6_ENST00000281416.7_Missense_Mutation_p.R664C	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6	664					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						TGTCATGCCACGCATTGAGCC	0.502																																						ENST00000392328.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						c.(1990-1992)Cgc>Tgc		major facilitator superfamily domain containing 6							168.0	144.0	152.0					2																	191362263		2203	4300	6503	SO:0001583	missense	54842				transmembrane transport	integral to membrane		g.chr2:191362263C>T		CCDS2306.1	2q32.2	2008-10-29			ENSG00000151690	ENSG00000151690			24711	protein-coding gene	gene with protein product		613476					Standard	NM_017694		Approved	FLJ20160	uc002urz.2	Q6ZSS7	OTTHUMG00000132671	ENST00000392328.1:c.1990C>T	2.37:g.191362263C>T	ENSP00000376141:p.Arg664Cys					MFSD6_ENST00000535751.1_Missense_Mutation_p.R126C|MFSD6_ENST00000281416.7_Missense_Mutation_p.R664C	p.R664C	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN			7	2314	+			664					D3KSZ4|Q86TH2|Q9NXM3	Missense_Mutation	SNP	ENST00000392328.1	37	c.1990C>T	CCDS2306.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.0|22.0	4.229592|4.229592	0.79688|0.79688	.|.	.|.	ENSG00000151690|ENSG00000151690	ENST00000392328;ENST00000281416;ENST00000444317;ENST00000535751|ENST00000434582	T;T|.	0.36340|.	1.26;1.26|.	5.74|5.74	5.74|5.74	0.90152|0.90152	.|.	0.225478|.	0.46758|.	D|.	0.000276|.	T|T	0.61173|0.61173	0.2326|0.2326	L|L	0.44542|0.44542	1.39|1.39	0.50039|0.50039	D|D	0.999843|0.999843	D|.	0.76494|.	0.999|.	P|.	0.59643|.	0.861|.	T|T	0.56282|0.56282	-0.8005|-0.8005	10|5	0.56958|.	D|.	0.05|.	-10.8169|-10.8169	14.5178|14.5178	0.67830|0.67830	0.0:0.8539:0.1461:0.0|0.0:0.8539:0.1461:0.0	.|.	664|.	Q6ZSS7|.	MFSD6_HUMAN|.	C|M	664;664;126;126|199	ENSP00000376141:R664C;ENSP00000281416:R664C|.	ENSP00000281416:R664C|.	R|T	+|+	1|2	0|0	MFSD6|MFSD6	191070508|191070508	0.992000|0.992000	0.36948|0.36948	0.990000|0.990000	0.47175|0.47175	0.992000|0.992000	0.81027|0.81027	1.900000|1.900000	0.39828|0.39828	2.720000|2.720000	0.93068|0.93068	0.650000|0.650000	0.86243|0.86243	CGC|ACG		0.502	MFSD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255931.1			8	117	0	0	0	1	0	8	117				
NBEAL2	23218	broad.mit.edu	37	3	47037252	47037252	+	Silent	SNP	C	C	T			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr3:47037252C>T	ENST00000450053.3	+	14	2126	c.1947C>T	c.(1945-1947)gcC>gcT	p.A649A	NBEAL2_ENST00000292309.5_Silent_p.A649A|NBEAL2_ENST00000383740.2_5'UTR	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	649					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TCACGGCGGCCGGGACCCTGG	0.597																																						ENST00000450053.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(1945-1947)gcC>gcT		neurobeachin-like 2							46.0	62.0	57.0					3																	47037252		1987	4153	6140	SO:0001819	synonymous_variant	23218						binding	g.chr3:47037252C>T	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"""WD repeat domain containing"""	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.1947C>T	3.37:g.47037252C>T						NBEAL2_ENST00000292309.5_Silent_p.A649A|NBEAL2_ENST00000383740.2_5'UTR	p.A649A	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)	14	2126	+		Acute lymphoblastic leukemia(5;0.0534)	649					O60288|Q6P994|Q6UX91|Q8NAC9	Silent	SNP	ENST00000450053.3	37	c.1947C>T	CCDS46817.1	.	.	.	.	.	.	.	.	.	.	C	9.823	1.186367	0.21870	.	.	ENSG00000160796	ENST00000416683	.	.	.	4.72	-4.44	0.03557	.	.	.	.	.	T	0.50463	0.1617	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50874	-0.8776	4	.	.	.	.	8.1354	0.31052	0.0:0.4559:0.1215:0.4226	.	.	.	.	L	121	.	.	P	+	2	0	NBEAL2	47012256	0.000000	0.05858	0.860000	0.33809	0.986000	0.74619	-1.996000	0.01471	-0.567000	0.06046	-0.290000	0.09829	CCG		0.597	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064		4	48	0	0	0	1	0	4	48				
RAPGEF6	51735	broad.mit.edu	37	5	130799890	130799890	+	Missense_Mutation	SNP	T	T	C			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr5:130799890T>C	ENST00000509018.1	-	18	2529	c.2324A>G	c.(2323-2325)gAa>gGa	p.E775G	CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.E825G|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.E775G|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.E490G|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.E775G|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.E775G|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.E780G|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.E775G	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	775	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		AAAAACTACTTCTTTAGCTGT	0.373																																					Melanoma(168;435 1955 13113 13877 23213)	ENST00000509018.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31						c.(2323-2325)gAa>gGa		Rap guanine nucleotide exchange factor (GEF) 6							96.0	84.0	88.0					5																	130799890		2203	4300	6503	SO:0001583	missense	51735				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding	g.chr5:130799890T>C	AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 2"""	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.2324A>G	5.37:g.130799890T>C	ENSP00000421684:p.Glu775Gly					RAPGEF6_ENST00000510071.1_Missense_Mutation_p.E775G|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.E780G|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.E775G|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.E490G|FNIP1_ENST00000514667.1_Missense_Mutation_p.E825G|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.E775G|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.E775G	p.E775G	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)	18	2529	-			775			Ras-associating.		A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Missense_Mutation	SNP	ENST00000509018.1	37	c.2324A>G	CCDS34225.1	.	.	.	.	.	.	.	.	.	.	T	34	5.295205	0.95574	.	.	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000512052;ENST00000308008;ENST00000510071;ENST00000514667	T;T;T;T;T;T;T;T	0.24538	1.85;1.85;1.85;1.85;1.85;1.85;1.85;1.85	5.64	5.64	0.86602	Ras-association (3);Ras guanine nucleotide exchange factor, domain (1);	0.045225	0.85682	D	0.000000	T	0.50650	0.1628	M	0.73962	2.25	0.80722	D	1	D;P;P;D;D;P;P	0.53619	0.961;0.932;0.917;0.961;0.961;0.951;0.868	P;P;P;P;D;P;P	0.63703	0.889;0.811;0.64;0.852;0.917;0.823;0.843	T	0.54370	-0.8304	10	0.87932	D	0	.	15.854	0.78960	0.0:0.0:0.0:1.0	.	775;775;775;490;825;780;775	A3KN82;B7ZML2;Q8TEU7-2;D6RE77;E9PCH4;Q8TEU7-3;Q8TEU7	.;.;.;.;.;.;RPGF6_HUMAN	G	775;780;775;775;780;490;775;775;825	ENSP00000421684:E775G;ENSP00000309298:E780G;ENSP00000426081:E775G;ENSP00000296859:E775G;ENSP00000426910:E490G;ENSP00000311419:E775G;ENSP00000425389:E775G;ENSP00000426948:E825G	ENSP00000426948:E825G	E	-	2	0	RAPGEF6;FNIP1	130827789	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.655000	0.83696	2.142000	0.66516	0.528000	0.53228	GAA		0.373	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340		15	43	0	0	0	1	0	15	43				
CCDC80	151887	broad.mit.edu	37	3	112324432	112324432	+	Silent	SNP	C	C	T			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr3:112324432C>T	ENST00000206423.3	-	8	3638	c.2685G>A	c.(2683-2685)tcG>tcA	p.S895S	CCDC80_ENST00000439685.2_Silent_p.S895S	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	895					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						GAAGTTGCATCGAATCAATTA	0.468																																						ENST00000206423.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						c.(2683-2685)tcG>tcA		coiled-coil domain containing 80							126.0	103.0	110.0					3																	112324432		2203	4300	6503	SO:0001819	synonymous_variant	151887							g.chr3:112324432C>T	AY333429	CCDS2968.1	3q13.2	2010-12-24			ENSG00000091986	ENSG00000091986			30649	protein-coding gene	gene with protein product	"""steroid sensitive gene 1"""	608298				15325258, 18178152	Standard	XM_005247135		Approved	URB, SSG1, DRO1	uc003dzf.3	Q76M96	OTTHUMG00000159265	ENST00000206423.3:c.2685G>A	3.37:g.112324432C>T						CCDC80_ENST00000439685.2_Silent_p.S895S	p.S895S	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN			8	3638	-			895					D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	Silent	SNP	ENST00000206423.3	37	c.2685G>A	CCDS2968.1																																																																																				0.468	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354219.1	NM_199511		12	63	0	0	0	1	0	12	63				
OR5T1	390155	broad.mit.edu	37	11	56043659	56043659	+	Missense_Mutation	SNP	G	G	A			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr11:56043659G>A	ENST00000313033.2	+	1	631	c.545G>A	c.(544-546)gGa>gAa	p.G182E		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	182						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					TCCTTCTGTGGATCCAATGAA	0.413																																						ENST00000313033.2																			0				NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43						c.(544-546)gGa>gAa		olfactory receptor, family 5, subfamily T, member 1							256.0	234.0	241.0					11																	56043659		2201	4296	6497	SO:0001583	missense	390155				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56043659G>A	AB065962	CCDS31525.1	11q11	2012-08-09		2004-03-10	ENSG00000181698	ENSG00000181698		"""GPCR / Class A : Olfactory receptors"""	14821	protein-coding gene	gene with protein product				OR5T1P			Standard	NM_001004745		Approved		uc001nio.1	Q8NG75	OTTHUMG00000166853	ENST00000313033.2:c.545G>A	11.37:g.56043659G>A	ENSP00000323612:p.Gly182Glu						p.G182E	NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN			1	631	+	Esophageal squamous(21;0.00448)		182					B2RNM9	Missense_Mutation	SNP	ENST00000313033.2	37	c.545G>A	CCDS31525.1	.	.	.	.	.	.	.	.	.	.	G	17.88	3.496951	0.64186	.	.	ENSG00000181698	ENST00000313033	T	0.38887	1.11	3.44	-6.88	0.01665	GPCR, rhodopsin-like superfamily (1);	0.860162	0.09802	N	0.753966	T	0.49729	0.1574	M	0.70108	2.13	0.09310	N	1	B	0.30146	0.27	B	0.43155	0.41	T	0.61048	-0.7141	10	0.54805	T	0.06	.	16.1798	0.81890	0.0929:0.1383:0.7688:0.0	.	182	Q8NG75	OR5T1_HUMAN	E	182	ENSP00000323612:G182E	ENSP00000323612:G182E	G	+	2	0	OR5T1	55800235	0.000000	0.05858	0.211000	0.23655	0.605000	0.37080	0.090000	0.15025	-0.914000	0.03827	0.465000	0.42564	GGA		0.413	OR5T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391600.1	NM_001004745		38	220	0	0	0	1	0	38	220				
DKK1	22943	broad.mit.edu	37	10	54076405	54076405	+	Silent	SNP	C	C	A			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr10:54076405C>A	ENST00000373970.3	+	4	778	c.639C>A	c.(637-639)gtC>gtA	p.V213V	PRKG1-AS1_ENST00000420193.1_RNA	NM_012242.2	NP_036374.1	O94907	DKK1_HUMAN	dickkopf WNT signaling pathway inhibitor 1	213	DKK-type Cys-2.				cell morphogenesis involved in differentiation (GO:0000904)|embryonic limb morphogenesis (GO:0030326)|endoderm formation (GO:0001706)|extracellular negative regulation of signal transduction (GO:1900116)|face morphogenesis (GO:0060325)|forebrain development (GO:0030900)|hair follicle development (GO:0001942)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:1901296)|negative regulation of cardiac muscle cell differentiation (GO:2000726)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of heart induction by negative regulation of canonical Wnt signaling pathway (GO:0090082)|regulation of endodermal cell fate specification (GO:0042663)|regulation of receptor internalization (GO:0002090)|response to retinoic acid (GO:0032526)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)	growth factor activity (GO:0008083)|low-density lipoprotein particle receptor binding (GO:0050750)|receptor antagonist activity (GO:0048019)|signal transducer activity (GO:0004871)			kidney(2)|large_intestine(4)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	16						GTAAACCTGTCCTGAAAGAAG	0.473																																						ENST00000373970.3																			0				kidney(2)|large_intestine(4)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	16						c.(637-639)gtC>gtA		dickkopf WNT signaling pathway inhibitor 1							129.0	118.0	122.0					10																	54076405		2203	4300	6503	SO:0001819	synonymous_variant	22943				negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization	extracellular space|plasma membrane	growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity	g.chr10:54076405C>A		CCDS7246.1	10q11.2	2013-05-15	2013-05-15		ENSG00000107984	ENSG00000107984			2891	protein-coding gene	gene with protein product		605189	"""dickkopf (Xenopus laevis) homolog 1"", ""dickkopf 1 homolog (Xenopus laevis)"""				Standard	NM_012242		Approved	SK, DKK-1	uc001jjr.3	O94907	OTTHUMG00000018247	ENST00000373970.3:c.639C>A	10.37:g.54076405C>A							p.V213V	NM_012242.2	NP_036374.1	O94907	DKK1_HUMAN			4	778	+			213			DKK-type Cys-2.		B2RC19	Silent	SNP	ENST00000373970.3	37	c.639C>A	CCDS7246.1																																																																																				0.473	DKK1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048100.1			4	89	1	0	0.00024832	1	0.000265746	4	89				
TEX14	56155	broad.mit.edu	37	17	56635171	56635171	+	Silent	SNP	G	G	A	rs540077247		TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr17:56635171G>A	ENST00000240361.8	-	32	4531	c.4446C>T	c.(4444-4446)tcC>tcT	p.S1482S	TEX14_ENST00000349033.5_Silent_p.S1436S|TEX14_ENST00000389934.3_Silent_p.S1476S|RP11-112H10.4_ENST00000578022.1_RNA|TEX14_ENST00000584699.1_Intron|RP11-112H10.4_ENST00000580589.1_RNA			Q8IWB6	TEX14_HUMAN	testis expressed 14	1482					attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGGATGATTCGGACCAACCTA	0.338																																						ENST00000389934.3																			0				breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81						c.(4426-4428)tcC>tcT		testis expressed 14							92.0	97.0	96.0					17																	56635171		2203	4300	6503	SO:0001819	synonymous_variant	56155					cytoplasm	ATP binding|protein kinase activity	g.chr17:56635171G>A	AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"""cancer/testis antigen 113"""	605792	"""testis expressed sequence 14"""			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.4446C>T	17.37:g.56635171G>A						TEX14_ENST00000584699.1_Intron|TEX14_ENST00000240361.8_Silent_p.S1482S|TEX14_ENST00000349033.5_Silent_p.S1436S	p.S1476S	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN			32	4545	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		1482					A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Silent	SNP	ENST00000240361.8	37	c.4428C>T	CCDS56042.1																																																																																				0.338	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1			4	125	0	0	0	1	0	4	125				
CYGB	114757	broad.mit.edu	37	17	74527562	74527562	+	Missense_Mutation	SNP	C	C	T			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr17:74527562C>T	ENST00000293230.5	-	2	717	c.355G>A	c.(355-357)Gtg>Atg	p.V119M	CYGB_ENST00000589342.1_Missense_Mutation_p.V119M|CYGB_ENST00000590175.1_Missense_Mutation_p.V54M|PRCD_ENST00000592432.1_Intron|CYGB_ENST00000586160.1_5'Flank|CYGB_ENST00000589145.1_Missense_Mutation_p.V54M	NM_134268.4	NP_599030.1	Q8WWM9	CYGB_HUMAN	cytoglobin	119	Globin.				oxidation-reduction process (GO:0055114)|oxygen transport (GO:0015671)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)|peroxidase activity (GO:0004601)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)	7						ACCGGTTCCACCTTGTGCTTG	0.642																																						ENST00000293230.5																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)	7						c.(355-357)Gtg>Atg		cytoglobin							105.0	89.0	95.0					17																	74527562		2203	4300	6503	SO:0001583	missense	114757				response to oxidative stress	cytoplasm	heme binding|oxygen binding|oxygen transporter activity|peroxidase activity	g.chr17:74527562C>T	AJ315162	CCDS11746.1	17q25	2008-07-18				ENSG00000161544			16505	protein-coding gene	gene with protein product	"""stellate cell activation-associated protein"", ""histoglobin"""	608759				11919282	Standard	NM_134268		Approved	HGB, STAP	uc002jru.2	Q8WWM9		ENST00000293230.5:c.355G>A	17.37:g.74527562C>T	ENSP00000293230:p.Val119Met					PRCD_ENST00000592432.1_Intron|CYGB_ENST00000589342.1_Missense_Mutation_p.V119M|CYGB_ENST00000589145.1_Missense_Mutation_p.V54M|CYGB_ENST00000590175.1_Missense_Mutation_p.V54M	p.V119M	NM_134268.4	NP_599030.1	Q8WWM9	CYGB_HUMAN			2	717	-			119			Globin.		Q541Y7|Q8N2X5	Missense_Mutation	SNP	ENST00000293230.5	37	c.355G>A	CCDS11746.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.490241	0.84962	.	.	ENSG00000161544	ENST00000293230	D	0.95447	-3.71	5.52	5.52	0.82312	Globin-like (1);Globin, structural domain (1);	0.000000	0.85682	D	0.000000	D	0.98435	0.9479	M	0.93283	3.4	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99297	1.0900	10	0.87932	D	0	-16.8729	19.4415	0.94823	0.0:1.0:0.0:0.0	.	119	Q8WWM9	CYGB_HUMAN	M	119	ENSP00000293230:V119M	ENSP00000293230:V119M	V	-	1	0	CYGB	72039157	1.000000	0.71417	1.000000	0.80357	0.501000	0.33797	7.502000	0.81614	2.598000	0.87819	0.462000	0.41574	GTG		0.642	CYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450590.1	NM_134268		16	38	0	0	0	1	0	16	38				
FBN2	2201	broad.mit.edu	37	5	127653927	127653927	+	Missense_Mutation	SNP	T	T	C			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr5:127653927T>C	ENST00000508053.1	-	42	5605	c.4631A>G	c.(4630-4632)aAt>aGt	p.N1544S	FBN2_ENST00000262464.4_Missense_Mutation_p.N1544S			P35556	FBN2_HUMAN	fibrillin 2	1544	EGF-like 26; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ACATAGGCCATTGACACAGTT	0.433																																						ENST00000508053.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.(4630-4632)aAt>aGt		fibrillin 2							214.0	204.0	207.0					5																	127653927		2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127653927T>C	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.4631A>G	5.37:g.127653927T>C	ENSP00000424571:p.Asn1544Ser					FBN2_ENST00000262464.4_Missense_Mutation_p.N1544S	p.N1544S			P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	42	5605	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	1544			EGF-like 26; calcium-binding.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.4631A>G	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	T	13.38	2.220522	0.39201	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	D;D	0.94497	-3.44;-3.44	5.16	4.02	0.46733	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.085587	0.50627	D	0.000108	D	0.87354	0.6156	N	0.16862	0.45	0.43448	D	0.995638	P	0.36909	0.573	B	0.36666	0.23	D	0.85003	0.0901	10	0.20046	T	0.44	.	11.2314	0.48914	0.0:0.0759:0.0:0.9241	.	1544	P35556	FBN2_HUMAN	S	1544	ENSP00000262464:N1544S;ENSP00000424571:N1544S	ENSP00000262464:N1544S	N	-	2	0	FBN2	127681826	1.000000	0.71417	0.916000	0.36221	0.986000	0.74619	4.042000	0.57347	2.291000	0.77112	0.533000	0.62120	AAT		0.433	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		11	189	0	0	0	1	0	11	189				
IFT140	9742	broad.mit.edu	37	16	1570707	1570707	+	Missense_Mutation	SNP	C	C	G			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr16:1570707C>G	ENST00000426508.2	-	27	3919	c.3556G>C	c.(3556-3558)Gag>Cag	p.E1186Q	IFT140_ENST00000361339.5_Missense_Mutation_p.E380Q	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	1186					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				CGCCGCGACTCCTCAGGCAGG	0.627																																						ENST00000426508.2																			0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53						c.(3556-3558)Gag>Cag		intraflagellar transport 140 homolog (Chlamydomonas)							30.0	28.0	28.0					16																	1570707		2199	4300	6499	SO:0001583	missense	9742							g.chr16:1570707C>G	AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29077	protein-coding gene	gene with protein product		614620	"""WD and tetratricopeptide repeats 2"", ""intraflagellar transport 140 homolog (Chlamydomonas)"""	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.3556G>C	16.37:g.1570707C>G	ENSP00000406012:p.Glu1186Gln					IFT140_ENST00000361339.5_Missense_Mutation_p.E380Q	p.E1186Q	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN			27	3919	-		Hepatocellular(780;0.219)	1186					A2A2A8|D3DU75|O60332|Q9UG52	Missense_Mutation	SNP	ENST00000426508.2	37	c.3556G>C	CCDS10439.1	.	.	.	.	.	.	.	.	.	.	C	34	5.329283	0.95733	.	.	ENSG00000187535	ENST00000397417;ENST00000361339;ENST00000426508	T;T	0.60672	1.39;0.17	5.78	5.78	0.91487	.	0.261213	0.37906	N	0.001883	T	0.79143	0.4396	M	0.84846	2.72	0.58432	D	0.999999	D;D	0.71674	0.992;0.998	P;D	0.67231	0.818;0.95	T	0.78285	-0.2263	10	0.44086	T	0.13	.	20.3668	0.98882	0.0:1.0:0.0:0.0	.	1186;873	Q96RY7;B4DR58	IF140_HUMAN;.	Q	1186;380;1186	ENSP00000354895:E380Q;ENSP00000406012:E1186Q	ENSP00000354895:E380Q	E	-	1	0	IFT140	1510708	1.000000	0.71417	0.801000	0.32222	0.956000	0.61745	7.713000	0.84693	2.894000	0.99253	0.655000	0.94253	GAG		0.627	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	NM_014714		7	12	0	0	0	1	0	7	12				
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S168S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		5	Substitution - coding silent(5)	p.S168S(5)	lung(2)|urinary_tract(1)|endometrium(1)|kidney(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(502-504)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							9.0	16.0	13.0					9																	20414340		1646	3412	5058	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414340G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.504C>T	9.37:g.20414340G>A						MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	p.S168S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	790	-			168			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.504C>T	CCDS6494.1																																																																																				0.537	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		4	129	0	0	0	1	0	4	129				
EMB	133418	broad.mit.edu	37	5	49706712	49706712	+	Splice_Site	SNP	T	T	A	rs201823568		TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr5:49706712T>A	ENST00000303221.5	-	4	686	c.471A>T	c.(469-471)aaA>aaT	p.K157N	EMB_ENST00000506190.1_5'UTR|EMB_ENST00000514111.1_Splice_Site_p.K107N|EMB_ENST00000508934.1_Splice_Site_p.K103N	NM_198449.2	NP_940851.1	Q6PCB8	EMB_HUMAN	embigin	157	Ig-like V-type 1.				cell adhesion (GO:0007155)|plasma membrane lactate transport (GO:0035879)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	organic cyclic compound binding (GO:0097159)			breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15	Lung SC(58;0.218)	Lung NSC(810;0.0795)				AATACTGACCTTTGAAATTAA	0.274																																						ENST00000303221.5																			0				breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15						c.e4+1		embigin							34.0	36.0	35.0					5																	49706712		2199	4284	6483	SO:0001630	splice_region_variant	133418					integral to membrane		g.chr5:49706712T>A	BC059398	CCDS3953.1	5q11.1	2013-01-29	2010-06-24		ENSG00000170571	ENSG00000170571		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	30465	protein-coding gene	gene with protein product		615669	"""embigin homolog (mouse)"""			9438341	Standard	NM_198449		Approved	MGC71745	uc003jom.3	Q6PCB8	OTTHUMG00000131161	ENST00000303221.5:c.472+1A>T	5.37:g.49706712T>A						EMB_ENST00000514111.1_Splice_Site_p.K107_splice|EMB_ENST00000506190.1_5'UTR|EMB_ENST00000508934.1_Splice_Site_p.K103_splice	p.K157_splice	NM_198449.2	NP_940851.1	Q6PCB8	EMB_HUMAN			4	686	-	Lung SC(58;0.218)	Lung NSC(810;0.0795)	157			Ig-like V-type 1.		B7Z6S3|B7Z902	Splice_Site	SNP	ENST00000303221.5	37	c.472_splice	CCDS3953.1	.	.	.	.	.	.	.	.	.	.	T	16.77	3.215967	0.58452	.	.	ENSG00000170571	ENST00000303221;ENST00000510295;ENST00000508934;ENST00000514111	T;T;T	0.49720	0.78;0.77;0.78	5.05	3.86	0.44501	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.507102	0.21095	N	0.080245	T	0.46328	0.1387	L	0.50333	1.59	0.31605	N	0.652241	P;P	0.50369	0.704;0.934	B;P	0.47915	0.236;0.561	T	0.53606	-0.8415	9	.	.	.	-11.1926	9.1148	0.36750	0.0:0.0:0.1838:0.8162	.	103;157	D6RDX7;Q6PCB8	.;EMB_HUMAN	N	157;129;103;107	ENSP00000302289:K157N;ENSP00000425215:K103N;ENSP00000426404:K107N	.	K	-	3	2	EMB	49742469	1.000000	0.71417	0.999000	0.59377	0.947000	0.59692	2.767000	0.47637	0.747000	0.32809	0.451000	0.29950	AAA		0.274	EMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253853.1	NM_198449	Missense_Mutation	3	27	0	0	0	1	0	3	27				
KANK2	25959	broad.mit.edu	37	19	11303962	11303962	+	Missense_Mutation	SNP	C	C	T	rs201517586	byFrequency	TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr19:11303962C>T	ENST00000586659.1	-	4	1108	c.794G>A	c.(793-795)cGg>cAg	p.R265Q	KANK2_ENST00000355150.5_Missense_Mutation_p.R265Q|KANK2_ENST00000589359.1_Missense_Mutation_p.R265Q|KANK2_ENST00000589894.1_Missense_Mutation_p.R265Q|KANK2_ENST00000432929.2_Missense_Mutation_p.R265Q			Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	265					apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)				endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GCCCACACTCCGGGTCTCCAG	0.682													C|||	2	0.000399361	0.0015	0.0	5008	,	,		16272	0.0		0.0	False		,,,				2504	0.0					ENST00000432929.2																			0				endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(793-795)cGg>cAg		KN motif and ankyrin repeat domains 2							25.0	28.0	27.0					19																	11303962		2201	4296	6497	SO:0001583	missense	25959							g.chr19:11303962C>T	AK000011	CCDS12255.1, CCDS54219.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000197256		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	29300	protein-coding gene	gene with protein product		614610	"""matrix-remodelling associated 3"", ""ankyrin repeat domain 25"""	MXRA3, ANKRD25		10819331, 17996375, 19554261	Standard	NM_015493		Approved	KIAA1518	uc002mqm.3	Q63ZY3		ENST00000586659.1:c.794G>A	19.37:g.11303962C>T	ENSP00000465650:p.Arg265Gln					KANK2_ENST00000589894.1_Missense_Mutation_p.R265Q|KANK2_ENST00000586659.1_Missense_Mutation_p.R265Q|KANK2_ENST00000355150.5_Missense_Mutation_p.R265Q|KANK2_ENST00000589359.1_Missense_Mutation_p.R265Q	p.R265Q	NM_001136191.2	NP_001129663.1	Q63ZY3	KANK2_HUMAN			4	1154	-			265					B0I1P4|Q3KQZ3|Q6GUF5|Q9H8S4|Q9NUP0|Q9P210	Missense_Mutation	SNP	ENST00000586659.1	37	c.794G>A	CCDS12255.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	17.85	3.490426	0.64074	.	.	ENSG00000197256	ENST00000432929;ENST00000355150	T;T	0.50813	0.73;0.75	3.87	3.87	0.44632	.	0.079470	0.47093	U	0.000259	T	0.57021	0.2025	L	0.36672	1.1	0.32523	N	0.535977	D;D;D	0.89917	0.999;0.986;1.0	P;P;D	0.69307	0.905;0.448;0.963	T	0.67608	-0.5627	10	0.59425	D	0.04	-24.2488	14.5938	0.68389	0.0:1.0:0.0:0.0	.	265;265;265	Q63ZY3-3;Q63ZY3;Q63ZY3-2	.;KANK2_HUMAN;.	Q	265	ENSP00000395650:R265Q;ENSP00000347276:R265Q	ENSP00000347276:R265Q	R	-	2	0	KANK2	11164962	0.054000	0.20591	0.790000	0.31976	0.652000	0.38707	0.831000	0.27476	1.708000	0.51301	0.313000	0.20887	CGG		0.682	KANK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453066.2	NM_015493		5	30	0	0	0	1	0	5	30				
DCAF6	55827	broad.mit.edu	37	1	167962660	167962660	+	Silent	SNP	G	G	A			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr1:167962660G>A	ENST00000312263.6	+	7	1089	c.885G>A	c.(883-885)gcG>gcA	p.A295A	DCAF6_ENST00000367843.3_Silent_p.A295A|DCAF6_ENST00000432587.2_Silent_p.A264A|DCAF6_ENST00000367840.3_Silent_p.A295A	NM_001017977.2	NP_001017977.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	295					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						CTCCTTCTGCGGAAGAGAGAA	0.483																																						ENST00000367840.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						c.(883-885)gcG>gcA		DDB1 and CUL4 associated factor 6							57.0	56.0	57.0					1																	167962660		2203	4300	6503	SO:0001819	synonymous_variant	55827				positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity	g.chr1:167962660G>A	AL136738	CCDS1267.2, CCDS30933.1, CCDS55657.1, CCDS55658.1	1q23.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000143164	ENSG00000143164		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	30002	protein-coding gene	gene with protein product		610494	"""IQ motif and WD repeats 1"""	IQWD1		12032826	Standard	NM_018442		Approved	PC326	uc001gex.3	Q58WW2	OTTHUMG00000034572	ENST00000312263.6:c.885G>A	1.37:g.167962660G>A						DCAF6_ENST00000432587.2_Silent_p.A264A|DCAF6_ENST00000367843.3_Silent_p.A295A|DCAF6_ENST00000312263.6_Silent_p.A295A	p.A295A	NM_001198956.1	NP_001185885.1	Q58WW2	DCAF6_HUMAN			7	979	+			295					A2A295|B4DNB8|Q7L8I0|Q8IXH3|Q8TB19	Silent	SNP	ENST00000312263.6	37	c.885G>A	CCDS30933.1																																																																																				0.483	DCAF6-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083661.2	NM_018442		3	81	0	0	0	1	0	3	81				
WDR7	23335	broad.mit.edu	37	18	54398817	54398817	+	Missense_Mutation	SNP	G	G	A	rs560600646		TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr18:54398817G>A	ENST00000254442.3	+	14	2189	c.1978G>A	c.(1978-1980)Gca>Aca	p.A660T	WDR7_ENST00000357574.3_Missense_Mutation_p.A660T|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	660					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		GGCTTCTGAGGCATCTGACAA	0.393																																						ENST00000254442.3																			0				NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78						c.(1978-1980)Gca>Aca		WD repeat domain 7							114.0	98.0	103.0					18																	54398817		2203	4300	6503	SO:0001583	missense	23335							g.chr18:54398817G>A	AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"""WD repeat domain containing"""	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.1978G>A	18.37:g.54398817G>A	ENSP00000254442:p.Ala660Thr					WDR7_ENST00000357574.3_Missense_Mutation_p.A660T|WDR7_ENST00000589935.1_Intron	p.A660T	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN		Lung(128;0.0238)|Colorectal(16;0.0296)	14	2189	+			660					A7E2C8|Q86UX5|Q86VP2|Q96PS7	Missense_Mutation	SNP	ENST00000254442.3	37	c.1978G>A	CCDS11962.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.232115	0.39498	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000398311	T;T	0.66638	-0.22;-0.22	5.26	4.36	0.52297	.	0.249082	0.41823	D	0.000803	T	0.45276	0.1334	N	0.08118	0	0.43103	D	0.994793	B;B	0.22414	0.069;0.044	B;B	0.21917	0.037;0.024	T	0.31447	-0.9943	10	0.21540	T	0.41	.	13.053	0.58964	0.0:0.0:0.7079:0.2921	.	660;660	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	T	660	ENSP00000254442:A660T;ENSP00000350187:A660T	ENSP00000254442:A660T	A	+	1	0	WDR7	52549815	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	4.952000	0.63618	1.148000	0.42385	0.563000	0.77884	GCA		0.393	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1			4	67	0	0	0	1	0	4	67				
ZBTB40	9923	broad.mit.edu	37	1	22838561	22838563	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr1:22838561_22838563delAAG	ENST00000375647.4	+	11	2602_2604	c.2395_2397delAAG	c.(2395-2397)aagdel	p.K803del	ZBTB40_ENST00000374651.4_In_Frame_Del_p.K691del|ZBTB40_ENST00000404138.1_In_Frame_Del_p.K803del	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	803					bone mineralization (GO:0030282)|cellular response to DNA damage stimulus (GO:0006974)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		CGATGCCCCCAAGAAGAAGAAGA	0.517																																						ENST00000404138.1																			0				endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(2395-2397)del		zinc finger and BTB domain containing 40																																				SO:0001651	inframe_deletion	9923				bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:22838561_22838563delAAG	AB007947	CCDS224.1	1p36	2013-01-08			ENSG00000184677	ENSG00000184677		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	29045	protein-coding gene	gene with protein product		612106					Standard	NM_014870		Approved	KIAA0478, ZNF923	uc001bfu.2	Q9NUA8	OTTHUMG00000002897	ENST00000375647.4:c.2395_2397delAAG	1.37:g.22838570_22838572delAAG	ENSP00000364798:p.Lys803del					ZBTB40_ENST00000374651.4_In_Frame_Del_p.K691del|ZBTB40_ENST00000375647.4_In_Frame_Del_p.K803del	p.K803del	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)	12	2906_2908	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	803					O75066|Q5TFU5|Q8N1R1	In_Frame_Del	DEL	ENST00000375647.4	37	c.2395_2397delAAG	CCDS224.1																																																																																				0.517	ZBTB40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008094.1	NM_014870		7	51						7	51	---	---	---	---
RPL5	6125	broad.mit.edu	37	1	93301888	93301890	+	In_Frame_Del	DEL	GGC	GGC	-			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr1:93301888_93301890delGGC	ENST00000370321.3	+	5	556_558	c.466_468delGGC	c.(466-468)ggcdel	p.G156del	SNORA66_ENST00000515986.1_RNA|SNORD21_ENST00000383953.1_RNA	NM_000969.3	NP_000960.2	P46777	RL5_HUMAN	ribosomal protein L5	156					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	5S rRNA binding (GO:0008097)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		AACTACCACTGGCAATAAAGTTT	0.493																																						ENST00000370321.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(466-468)del		ribosomal protein L5																																				SO:0001651	inframe_deletion	6125				endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome	g.chr1:93301888_93301890delGGC	U14966	CCDS741.1	1p22.1	2014-06-13			ENSG00000122406	ENSG00000122406		"""L ribosomal proteins"""	10360	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 135"""	603634				7937132, 7772601	Standard	NM_000969		Approved	L5, PPP1R135	uc001doz.3	P46777	OTTHUMG00000010899	ENST00000370321.3:c.466_468delGGC	1.37:g.93301888_93301890delGGC	ENSP00000359345:p.Gly156del						p.G156del	NM_000969.3	NP_000960.2	P46777	RL5_HUMAN		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)	5	556_558	+		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)	156					Q32LZ3|Q53HH6|Q9H3F4	In_Frame_Del	DEL	ENST00000370321.3	37	c.466_468delGGC	CCDS741.1																																																																																				0.493	RPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030058.2	NM_000969		14	114						14	114	---	---	---	---
ZNF672	79894	broad.mit.edu	37	1	249142229	249142229	+	Frame_Shift_Del	DEL	G	G	-			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr1:249142229delG	ENST00000306562.3	+	4	1502	c.756delG	c.(754-756)gagfs	p.E252fs		NM_024836.1	NP_079112.1	Q499Z4	ZN672_HUMAN	zinc finger protein 672	252					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(1)	5	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			ACACGGGCGAGAAGCCGTACG	0.677																																						ENST00000306562.3																			0				endometrium(2)|kidney(2)|large_intestine(1)	5						c.(754-756)gafs		zinc finger protein 672							8.0	7.0	7.0					1																	249142229		2164	4211	6375	SO:0001589	frameshift_variant	79894				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:249142229delG	AK027476	CCDS1638.1	1q44	2013-01-08			ENSG00000171161	ENSG00000171161		"""Zinc fingers, C2H2-type"""	26179	protein-coding gene	gene with protein product	"""hypothetical protein FLJ22301"""					12477932	Standard	NM_024836		Approved	FLJ22301	uc001iex.3	Q499Z4	OTTHUMG00000040377	ENST00000306562.3:c.756delG	1.37:g.249142229delG	ENSP00000421915:p.Glu252fs						p.E252fs	NM_024836.1	NP_079112.1	Q499Z4	ZN672_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00805)		4	1502	+	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	252					Q96H65|Q96IM3|Q9H6G5	Frame_Shift_Del	DEL	ENST00000306562.3	37	c.756delG	CCDS1638.1																																																																																				0.677	ZNF672-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097125.2	NM_024836		2	4						2	4	---	---	---	---
HMGB2	3148	broad.mit.edu	37	4	174253268	174253273	+	In_Frame_Del	DEL	TCTTCT	TCTTCT	-	rs375341097		TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr4:174253268_174253273delTCTTCT	ENST00000296503.5	-	5	1461_1466	c.588_593delAGAAGA	c.(586-594)gaagaagat>gat	p.EE196del	HMGB2_ENST00000438704.2_In_Frame_Del_p.EE196del|RP11-798M19.3_ENST00000507803.1_RNA|HMGB2_ENST00000446922.2_In_Frame_Del_p.EE196del			P26583	HMGB2_HUMAN	high mobility group box 2	196	Asp/Glu-rich (acidic).				apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|base-excision repair, DNA ligation (GO:0006288)|cell chemotaxis (GO:0060326)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to lipopolysaccharide (GO:0071222)|chromatin organization (GO:0006325)|DNA ligation involved in DNA repair (GO:0051103)|DNA topological change (GO:0006265)|male gonad development (GO:0008584)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive chemotaxis (GO:0050918)|positive regulation of DNA binding (GO:0043388)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of nuclease activity (GO:0032075)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to steroid hormone (GO:0048545)|spermatid nucleus differentiation (GO:0007289)|V(D)J recombination (GO:0033151)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	chemoattractant activity (GO:0042056)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RAGE receptor binding (GO:0050786)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		ctcatcttcatcttcttcttcctcct	0.466																																						ENST00000296503.5																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14						c.(586-594)gat>ga		high mobility group box 2																																				SO:0001651	inframe_deletion	3148				base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex	chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding	g.chr4:174253268_174253273delTCTTCT		CCDS3816.1	4q31	2011-07-01	2011-04-05	2002-08-16	ENSG00000164104	ENSG00000164104		"""High-mobility group / Canonical"""	5000	protein-coding gene	gene with protein product		163906	"""high-mobility group (nonhistone chromosomal) protein 2"", ""high-mobility group box 2"""	HMG2		1754403	Standard	NM_002129		Approved		uc011ckc.1	P26583	OTTHUMG00000160799	ENST00000296503.5:c.588_593delAGAAGA	4.37:g.174253268_174253273delTCTTCT	ENSP00000296503:p.Glu196_Glu197del					HMGB2_ENST00000446922.2_In_Frame_Del_p.EED196del|HMGB2_ENST00000438704.2_In_Frame_Del_p.EED196del	p.EED196del			P26583	HMGB2_HUMAN		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)	5	1461_1466	-		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)	196			Asp/Glu-rich (acidic).		B2R4K8|D3DP37|Q5U072	In_Frame_Del	DEL	ENST00000296503.5	37	c.588_593delAGAAGA	CCDS3816.1																																																																																				0.466	HMGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362362.1	NM_001130688		22	81						22	81	---	---	---	---
CHD1	1105	broad.mit.edu	37	5	98234109	98234112	+	Frame_Shift_Del	DEL	AACC	AACC	-	rs201680764		TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr5:98234109_98234112delAACC	ENST00000284049.3	-	9	1362_1365	c.1213_1216delGGTT	c.(1213-1218)ggttatfs	p.GY405fs		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	405	Chromo 2. {ECO:0000255|PROSITE- ProRule:PRU00053}.				chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)	p.G405V(1)		NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	TAATCAGGATAACCAGCTGCTGAC	0.363																																						ENST00000284049.3																			1	Substitution - Missense(1)	p.G405V(1)	lung(1)	NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49						c.(1213-1218)atfs		chromodomain helicase DNA binding protein 1	Epirubicin(DB00445)																																			SO:0001589	frameshift_variant	1105				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding	g.chr5:98234109_98234112delAACC	AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.1213_1216delGGTT	5.37:g.98234109_98234112delAACC	ENSP00000284049:p.Gly405fs						p.GY405fs	NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN		COAD - Colon adenocarcinoma(37;0.0717)	9	1362_1365	-		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)	405			Chromo 2.		Q17RZ3	Frame_Shift_Del	DEL	ENST00000284049.3	37	c.1213_1216delGGTT	CCDS34204.1																																																																																				0.363	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370295.1	NM_001270		7	25						7	25	---	---	---	---
DDX5	1655	broad.mit.edu	37	17	62500099	62500102	+	Splice_Site	DEL	ACAG	ACAG	-			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr17:62500099_62500102delACAG	ENST00000225792.5	-	4	841_843	c.440_442delCTGT	c.(439-444)tctgta>tta	p.SV147fs	DDX5_ENST00000578804.1_Splice_Site_p.SV147fs|DDX5_ENST00000580026.1_5'Flank|CEP95_ENST00000556440.2_5'Flank|DDX5_ENST00000450599.2_Intron|MIR5047_ENST00000579212.1_RNA	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	147	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cell growth (GO:0016049)|circadian rhythm (GO:0007623)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of osteoblast differentiation (GO:0045667)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of viral genome replication (GO:0045069)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA helicase activity (GO:0003724)|transcription coactivator activity (GO:0003713)			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			TCCCAAACTTACAGACAATGTTTT	0.397			T	ETV4	prostate																																NSCLC(22;406 813 4871 19580 40307)	ENST00000225792.5				Dom	yes		17	17q21	1655	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 5			E	ETV4		prostate		0				breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19						c.e4+1		DEAD (Asp-Glu-Ala-Asp) box helicase 5																																				SO:0001630	splice_region_variant	1655				cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity	g.chr17:62500099_62500102delACAG	AF015812	CCDS11659.1	17q21	2012-07-27	2012-02-23		ENSG00000108654	ENSG00000108654		"""DEAD-boxes"""	2746	protein-coding gene	gene with protein product		180630	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 5 (RNA helicase, 68kD)"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 5"""	HLR1, G17P1		22156369, 18698352	Standard	NM_004396		Approved	p68	uc002jek.2	P17844	OTTHUMG00000178936	ENST00000225792.5:c.441+1CTGT>-	17.37:g.62500099_62500102delACAG						DDX5_ENST00000578804.1_Splice_Site_p.L149_splice|DDX5_ENST00000450599.2_Intron	p.L149_splice	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	BRCA - Breast invasive adenocarcinoma(8;8.6e-12)		4	841_843	-	Breast(5;2.15e-14)		149			Helicase ATP-binding.		B4DLW8|B5BU21|D3DU32|E7ETL9|O75681|Q53Y61	Splice_Site	DEL	ENST00000225792.5	37	c.441_splice	CCDS11659.1																																																																																				0.397	DDX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444030.1	NM_004396	Frame_Shift_Del	32	98						32	98	---	---	---	---
ONECUT2	9480	broad.mit.edu	37	18	55103243	55103245	+	In_Frame_Del	DEL	GCG	GCG	-			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr18:55103243_55103245delGCG	ENST00000491143.2	+	1	327_329	c.295_297delGCG	c.(295-297)gcgdel	p.A101del	AC090340.1_ENST00000581316.1_RNA	NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN	one cut homeobox 2	101	Poly-Ala.				cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|epithelial cell development (GO:0002064)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ morphogenesis (GO:0009887)|peripheral nervous system neuron development (GO:0048935)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		agcggcggcagcggcggcgTCGC	0.773																																						ENST00000491143.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15						c.(295-297)del		one cut homeobox 2																																				SO:0001651	inframe_deletion	9480				organ morphogenesis	nucleus	sequence-specific DNA binding	g.chr18:55103243_55103245delGCG	Y18198	CCDS42440.1	18q21.31	2012-03-09	2007-07-16		ENSG00000119547	ENSG00000119547		"""Homeoboxes / CUT class"""	8139	protein-coding gene	gene with protein product		604894	"""one cut domain, family member 2"""			9915796	Standard	NM_004852		Approved	OC-2	uc002lgo.3	O95948	OTTHUMG00000159776	ENST00000491143.2:c.295_297delGCG	18.37:g.55103249_55103251delGCG	ENSP00000419185:p.Ala101del						p.A101del	NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)	1	327_329	+		Colorectal(73;0.234)	101			Poly-Ala.			In_Frame_Del	DEL	ENST00000491143.2	37	c.295_297delGCG	CCDS42440.1																																																																																				0.773	ONECUT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357264.3			2	4						2	4	---	---	---	---
