#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
SNHG14	104472715	broad.mit.edu	37	15	25451275	25451275	+	RNA	SNP	C	C	T			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr15:25451275C>T	ENST00000424208.1	+	0	2384				SNHG14_ENST00000450809.1_RNA|SNORD115-19_ENST00000363098.1_RNA|SNORD115-20_ENST00000365099.1_RNA|SNORD115-21_ENST00000362963.1_RNA|SNORD115-18_ENST00000363293.1_RNA|SNHG14_ENST00000424333.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		GGCCAGTGTGCGTCAGCCAGG	0.632																																						ENST00000424208.1																			0																																																			0							g.chr15:25451275C>T			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25451275C>T						SNHG14_ENST00000450809.1_RNA|SNHG14_ENST00000424333.1_RNA		NR_003305.1						0	2384	+									RNA	SNP	ENST00000424208.1	37																																																																																						0.632	SNHG14-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126729.2			5	5	0	0	0	1	0	5	5				
GRXCR2	643226	broad.mit.edu	37	5	145252483	145252483	+	Missense_Mutation	SNP	G	G	A	rs376301264		TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr5:145252483G>A	ENST00000377976.1	-	1	48	c.49C>T	c.(49-51)Cgg>Tgg	p.R17W		NM_001080516.1	NP_001073985.1	A6NFK2	GRCR2_HUMAN	glutaredoxin, cysteine rich 2	17						cell projection (GO:0042995)				breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						CGTACTTTCCGGGGTTTGCCA	0.502																																						ENST00000377976.1																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						c.(49-51)Cgg>Tgg		glutaredoxin, cysteine rich 2		G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	116.0	114.0	115.0		49	3.6	1.0	5		115	0,8600		0,0,4300	no	missense	GRXCR2	NM_001080516.1	101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	17/249	145252483	1,13005	2203	4300	6503	SO:0001583	missense	643226							g.chr5:145252483G>A		CCDS34263.1	5q32	2014-03-14			ENSG00000204928	ENSG00000204928			33862	protein-coding gene	gene with protein product		615762				24619944	Standard	NM_001080516		Approved	DFNB101	uc003lns.1	A6NFK2	OTTHUMG00000163417	ENST00000377976.1:c.49C>T	5.37:g.145252483G>A	ENSP00000367214:p.Arg17Trp						p.R17W	NM_001080516.1	NP_001073985.1	A6NFK2	GRCR2_HUMAN			1	48	-			17						Missense_Mutation	SNP	ENST00000377976.1	37	c.49C>T	CCDS34263.1	.	.	.	.	.	.	.	.	.	.	G	14.10	2.434010	0.43224	2.27E-4	0.0	ENSG00000204928	ENST00000377976	T	0.66099	-0.19	5.51	3.57	0.40892	.	0.049912	0.85682	D	0.000000	T	0.76428	0.3986	M	0.72894	2.215	0.45354	D	0.998349	D	0.89917	1.0	D	0.74674	0.984	T	0.80146	-0.1504	10	0.87932	D	0	-17.1985	13.9232	0.63945	0.0:0.0:0.7192:0.2807	.	17	A6NFK2	GRCR2_HUMAN	W	17	ENSP00000367214:R17W	ENSP00000367214:R17W	R	-	1	2	GRXCR2	145232676	1.000000	0.71417	1.000000	0.80357	0.299000	0.27559	1.846000	0.39289	1.389000	0.46526	0.655000	0.94253	CGG		0.502	GRXCR2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373289.2			46	71	0	0	0	1	0	46	71				
PIK3CG	5294	broad.mit.edu	37	7	106508395	106508395	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr7:106508395G>A	ENST00000359195.3	+	2	699	c.389G>A	c.(388-390)cGg>cAg	p.R130Q	PIK3CG_ENST00000496166.1_Missense_Mutation_p.R130Q|PIK3CG_ENST00000440650.2_Missense_Mutation_p.R130Q	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	130	PI3K-ABD. {ECO:0000255|PROSITE- ProRule:PRU00877}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						GCCACGCACCGGAGCCCGGGC	0.632																																						ENST00000359195.3																			0				breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						c.(388-390)cGg>cAg		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma							19.0	21.0	20.0					7																	106508395		2203	4296	6499	SO:0001583	missense	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106508395G>A		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.389G>A	7.37:g.106508395G>A	ENSP00000352121:p.Arg130Gln					PIK3CG_ENST00000496166.1_Missense_Mutation_p.R130Q|PIK3CG_ENST00000440650.2_Missense_Mutation_p.R130Q	p.R130Q	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN			2	699	+			130					A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	37	c.389G>A	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	G	8.871	0.949320	0.18356	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.69306	-0.39;-0.39;-0.39	5.52	-2.2	0.06994	.	0.373486	0.30109	N	0.010382	T	0.36276	0.0961	N	0.08118	0	0.09310	N	0.999997	B	0.02656	0.0	B	0.01281	0.0	T	0.18429	-1.0337	10	0.21540	T	0.41	-10.5105	7.0116	0.24865	0.6635:0.0:0.1958:0.1408	.	130	P48736	PK3CG_HUMAN	Q	130	ENSP00000392258:R130Q;ENSP00000419260:R130Q;ENSP00000352121:R130Q	ENSP00000352121:R130Q	R	+	2	0	PIK3CG	106295631	0.001000	0.12720	0.605000	0.28930	0.778000	0.44026	0.989000	0.29629	-0.103000	0.12175	0.467000	0.42956	CGG		0.632	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			3	33	0	0	0	1	0	3	33				
CCT2	10576	broad.mit.edu	37	12	69986785	69986785	+	Silent	SNP	T	T	C	rs201962311	byFrequency	TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr12:69986785T>C	ENST00000299300.6	+	9	968	c.780T>C	c.(778-780)tcT>tcC	p.S260S	CCT2_ENST00000544368.2_Silent_p.S260S|CCT2_ENST00000543146.2_Silent_p.S213S	NM_006431.2	NP_006422.1	P78371	TCPB_HUMAN	chaperonin containing TCP1, subunit 2 (beta)	260					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			GAGTTGACTCTACAGCAAAGG	0.363													T|||	5	0.000998403	0.0038	0.0	5008	,	,		19993	0.0		0.0	False		,,,				2504	0.0					ENST00000543146.2																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24						c.(637-639)tcT>tcC		chaperonin containing TCP1, subunit 2 (beta)							81.0	81.0	81.0					12																	69986785		2203	4300	6503	SO:0001819	synonymous_variant	10576				'de novo' posttranslational protein folding	nucleus	ATP binding|unfolded protein binding	g.chr12:69986785T>C	AF026293	CCDS8991.1, CCDS55843.1	12q14	2011-09-02						"""Heat Shock Proteins / Chaperonins"""	1615	protein-coding gene	gene with protein product		605139				9819444	Standard	NM_001198842		Approved	Cctb	uc001svb.1	P78371	OTTHUMG00000169383	ENST00000299300.6:c.780T>C	12.37:g.69986785T>C						CCT2_ENST00000299300.6_Silent_p.S260S|CCT2_ENST00000544368.2_Silent_p.S260S	p.S213S	NM_001198842.1	NP_001185771.1	P78371	TCPB_HUMAN	Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)		9	1121	+	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		260					A8K402|B5BTY7|B7Z243|B7Z7K4|B7ZAT2|Q14D36|Q6IAT3	Silent	SNP	ENST00000299300.6	37	c.639T>C	CCDS8991.1																																																																																				0.363	CCT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403818.1	NM_006431		19	31	0	0	0	1	0	19	31				
TRIT1	54802	broad.mit.edu	37	1	40318533	40318533	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr1:40318533T>A	ENST00000316891.5	-	4	444	c.430A>T	c.(430-432)Act>Tct	p.T144S	TRIT1_ENST00000372818.1_Missense_Mutation_p.T144S|TRIT1_ENST00000537440.1_Intron|TRIT1_ENST00000491865.1_Intron|TRIT1_ENST00000541099.1_Intron|TRIT1_ENST00000544981.1_Intron|TRIT1_ENST00000537223.1_Intron|TRIT1_ENST00000441669.2_Missense_Mutation_p.T64S|TRIT1_ENST00000545233.1_Intron	NM_017646.4	NP_060116.2	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1	144					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|tRNA dimethylallyltransferase activity (GO:0052381)			breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			ACTTTCTCAGTGCCCATCTCC	0.453																																						ENST00000316891.5																			0				breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15						c.(430-432)Act>Tct		tRNA isopentenyltransferase 1							202.0	189.0	193.0					1																	40318533		2203	4300	6503	SO:0001583	missense	54802				tRNA processing	mitochondrion	ATP binding|metal ion binding|tRNA dimethylallyltransferase activity	g.chr1:40318533T>A	AF074918	CCDS30681.1	1p34.2	2012-10-05			ENSG00000043514	ENSG00000043514	2.5.1.8		20286	protein-coding gene	gene with protein product						11111046, 15870694	Standard	NM_017646		Approved	FLJ20061, IPT	uc021olz.1	Q9H3H1	OTTHUMG00000009245	ENST00000316891.5:c.430A>T	1.37:g.40318533T>A	ENSP00000321810:p.Thr144Ser					TRIT1_ENST00000372818.1_Missense_Mutation_p.T144S|TRIT1_ENST00000545233.1_Intron|TRIT1_ENST00000544981.1_Intron|TRIT1_ENST00000541099.1_Intron|TRIT1_ENST00000537440.1_Intron|TRIT1_ENST00000537223.1_Intron|TRIT1_ENST00000491865.1_Intron|TRIT1_ENST00000441669.2_Missense_Mutation_p.T64S	p.T144S	NM_017646.4	NP_060116.2	Q9H3H1	MOD5_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		4	444	-	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	144					A1A4X7|Q3T7B5|Q5QPK5|Q5QPK6|Q6IAC9|Q96FJ3|Q96L45|Q9NXT7	Missense_Mutation	SNP	ENST00000316891.5	37	c.430A>T	CCDS30681.1	.	.	.	.	.	.	.	.	.	.	T	7.987	0.752492	0.15778	.	.	ENSG00000043514	ENST00000046894;ENST00000372825;ENST00000441669;ENST00000316891;ENST00000372818	T;T	0.43294	0.95;0.95	3.99	3.99	0.46301	.	0.433363	0.28510	N	0.015088	T	0.16811	0.0404	N	0.05012	-0.13	0.09310	N	0.999997	B;B;B	0.09022	0.0;0.0;0.002	B;B;B	0.12837	0.004;0.008;0.003	T	0.23583	-1.0184	10	0.08599	T	0.76	-11.4479	5.6679	0.17704	0.0:0.0932:0.1731:0.7338	.	144;144;64	Q9H3H1;Q9H3H1-4;Q9H3H1-5	MOD5_HUMAN;.;.	S	144;64;58;144;144	ENSP00000321810:T144S;ENSP00000361905:T144S	ENSP00000046894:T144S	T	-	1	0	TRIT1	40091120	0.007000	0.16637	0.829000	0.32907	0.699000	0.40488	0.341000	0.19909	2.025000	0.59659	0.383000	0.25322	ACT		0.453	TRIT1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025627.2	NM_017646		47	104	0	0	0	1	0	47	104				
DROSHA	29102	broad.mit.edu	37	5	31526205	31526205	+	Missense_Mutation	SNP	G	G	A	rs201276010		TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr5:31526205G>A	ENST00000511367.2	-	4	1079	c.835C>T	c.(835-837)Cgc>Tgc	p.R279C	DROSHA_ENST00000504361.1_5'Flank|DROSHA_ENST00000442743.1_Missense_Mutation_p.R279C|DROSHA_ENST00000344624.3_Missense_Mutation_p.R279C|DROSHA_ENST00000513349.1_Missense_Mutation_p.R279C	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	279	Arg-rich.				defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|miRNA metabolic process (GO:0010586)|pre-miRNA processing (GO:0031054)|primary miRNA processing (GO:0031053)|ribosome biogenesis (GO:0042254)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA catabolic process (GO:0016075)	nucleoplasm (GO:0005654)	lipopolysaccharide binding (GO:0001530)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)	p.R279C(1)		breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						TCGTAGCTGCGGTGGCGAGAT	0.547																																						ENST00000511367.2																			1	Substitution - Missense(1)	p.R279C(1)	endometrium(1)	breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						c.(835-837)Cgc>Tgc		drosha, ribonuclease type III		G	CYS/ARG,CYS/ARG	2,4214		0,2,2106	92.0	94.0	93.0		835,835	2.7	1.0	5		93	10,8408		0,10,4199	yes	missense,missense	DROSHA	NM_001100412.1,NM_013235.4	180,180	0,12,6305	AA,AG,GG		0.1188,0.0474,0.095	possibly-damaging,possibly-damaging	279/1338,279/1375	31526205	12,12622	2108	4209	6317	SO:0001583	missense	29102				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr5:31526205G>A	AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	3.1.26.3		17904	protein-coding gene	gene with protein product	"""drosha, ribonuclease type III"", ""drosha, double-stranded RNA-specific endoribonuclease"""	608828	"""ribonuclease type III, nuclear"""	RNASEN		10713462, 10948199	Standard	NM_013235		Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.835C>T	5.37:g.31526205G>A	ENSP00000425979:p.Arg279Cys					DROSHA_ENST00000513349.1_Missense_Mutation_p.R279C|DROSHA_ENST00000344624.3_Missense_Mutation_p.R279C|DROSHA_ENST00000442743.1_Missense_Mutation_p.R279C	p.R279C	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN			4	1079	-			279			Arg-rich.		E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Missense_Mutation	SNP	ENST00000511367.2	37	c.835C>T	CCDS47195.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.01|13.01	2.109684|2.109684	0.37242|0.37242	4.74E-4|4.74E-4	0.001188|0.001188	ENSG00000113360|ENSG00000113360	ENST00000512076|ENST00000511367;ENST00000344624;ENST00000442743;ENST00000513349;ENST00000265075;ENST00000382188;ENST00000512302	.|T;T;T;T;T	.|0.58210	.|1.21;1.21;0.74;0.74;0.35	4.55|4.55	2.73|2.73	0.32206|0.32206	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.50411|0.50411	0.1614|0.1614	N|N	0.19112|0.19112	0.55|0.55	0.58432|0.58432	D|D	0.999997|0.999997	.|D;D;D	.|0.76494	.|0.999;0.997;0.997	.|P;B;B	.|0.56343	.|0.796;0.446;0.446	T|T	0.54603|0.54603	-0.8269|-0.8269	5|10	.|0.87932	.|D	.|0	-12.0872|-12.0872	12.8912|12.8912	0.58071|0.58071	0.0:0.0:0.5054:0.4946|0.0:0.0:0.5054:0.4946	.|.	.|279;279;279	.|Q9NRR4-2;E7EMP9;Q9NRR4	.|.;.;RNC_HUMAN	L|C	108|279;279;279;279;272;272;77	.|ENSP00000425979:R279C;ENSP00000339845:R279C;ENSP00000409335:R279C;ENSP00000424161:R279C;ENSP00000428782:R77C	.|ENSP00000265075:R272C	P|R	-|-	2|1	0|0	DROSHA|DROSHA	31561962|31561962	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.962000|0.962000	0.63368|0.63368	1.553000|1.553000	0.36255|0.36255	0.518000|0.518000	0.28383|0.28383	0.650000|0.650000	0.86243|0.86243	CCG|CGC		0.547	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366561.3	NM_013235		10	90	0	0	0	1	0	10	90				
CDHR2	54825	broad.mit.edu	37	5	176011821	176011821	+	Missense_Mutation	SNP	G	G	T	rs554321529		TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr5:176011821G>T	ENST00000510636.1	+	19	2813	c.2539G>T	c.(2539-2541)Gtg>Ttg	p.V847L	CDHR2_ENST00000261944.5_Missense_Mutation_p.V847L|CDHR2_ENST00000506348.1_Missense_Mutation_p.V847L	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	847	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GATACAGCTTGTGAACATTCT	0.612																																						ENST00000510636.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						c.(2539-2541)Gtg>Ttg		cadherin-related family member 2							108.0	92.0	97.0					5																	176011821		2203	4300	6503	SO:0001583	missense	54825				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding	g.chr5:176011821G>T	AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"""Cadherins / Cadherin-related"""	18231	protein-coding gene	gene with protein product	"""protocadherin LKC"""		"""protocadherin 24"""	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.2539G>T	5.37:g.176011821G>T	ENSP00000424565:p.Val847Leu					CDHR2_ENST00000261944.5_Missense_Mutation_p.V847L|CDHR2_ENST00000506348.1_Missense_Mutation_p.V847L	p.V847L	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN			19	2813	+			847			Cadherin 8.		A1L3U4|A6NC80|Q9NXP8	Missense_Mutation	SNP	ENST00000510636.1	37	c.2539G>T	CCDS34297.1	.	.	.	.	.	.	.	.	.	.	G	0.168	-1.074624	0.01903	.	.	ENSG00000074276	ENST00000510636;ENST00000261944;ENST00000506348	T;T;T	0.55930	0.49;0.49;0.49	5.28	-0.828	0.10799	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.24736	0.0600	N	0.11845	0.185	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.20739	-1.0266	9	0.09843	T	0.71	-10.2882	3.1945	0.06629	0.3138:0.421:0.1716:0.0937	.	847	Q9BYE9	CDHR2_HUMAN	L	847	ENSP00000424565:V847L;ENSP00000261944:V847L;ENSP00000421078:V847L	ENSP00000261944:V847L	V	+	1	0	CDHR2	175944427	0.023000	0.18921	0.000000	0.03702	0.006000	0.05464	0.244000	0.18124	-0.130000	0.11599	-0.390000	0.06520	GTG		0.612	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675		4	112	1	0	0.000602214	1	0.000636302	4	112				
SLC7A14	57709	broad.mit.edu	37	3	170218996	170218996	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr3:170218996G>A	ENST00000231706.5	-	3	758	c.443C>T	c.(442-444)gCg>gTg	p.A148V	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	148					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			GGCTCCGGCCGCAGTGCCAAT	0.557																																						ENST00000231706.4																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53						c.(442-444)gCg>gTg		solute carrier family 7, member 14							71.0	64.0	66.0					3																	170218996		2203	4300	6503	SO:0001583	missense	57709					integral to membrane	amino acid transmembrane transporter activity	g.chr3:170218996G>A	BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293		"""Solute carriers"""	29326	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 142"""	615720					Standard	NM_020949		Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.443C>T	3.37:g.170218996G>A	ENSP00000231706:p.Ala148Val					CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	p.A148V	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)		3	758	-	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		148					B3KV33|Q9HCF9	Missense_Mutation	SNP	ENST00000231706.5	37	c.443C>T	CCDS33892.1	.	.	.	.	.	.	.	.	.	.	G	36	5.609618	0.96637	.	.	ENSG00000013293	ENST00000231706	D	0.90133	-2.62	5.26	5.26	0.73747	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.95787	0.8629	M	0.84156	2.68	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96096	0.9065	10	0.87932	D	0	.	19.2201	0.93793	0.0:0.0:1.0:0.0	.	148	Q8TBB6	S7A14_HUMAN	V	148	ENSP00000231706:A148V	ENSP00000231706:A148V	A	-	2	0	SLC7A14	171701690	1.000000	0.71417	0.994000	0.49952	0.985000	0.73830	9.779000	0.99018	2.609000	0.88269	0.561000	0.74099	GCG		0.557	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352598.2	NM_020949		3	45	0	0	0	1	0	3	45				
TTLL10	254173	broad.mit.edu	37	1	1117795	1117795	+	Missense_Mutation	SNP	C	C	G	rs139967804	byFrequency	TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr1:1117795C>G	ENST00000379290.1	+	10	1058	c.885C>G	c.(883-885)caC>caG	p.H295Q	TTLL10-AS1_ENST00000379317.1_RNA|TTLL10_ENST00000379289.1_Missense_Mutation_p.H295Q|TTLL10_ENST00000379288.3_Missense_Mutation_p.H222Q			Q6ZVT0	TTL10_HUMAN	tubulin tyrosine ligase-like family, member 10	295	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)					haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		ACCTCAAACACGAGAGAGAGG	0.622																																						ENST00000379290.1																			0				haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7						c.(883-885)caC>caG		tubulin tyrosine ligase-like family, member 10			GLN/HIS,GLN/HIS	0,4406		0,0,2203	120.0	117.0	118.0		885,666	-6.3	0.0	1	dbSNP_134	118	3,8597	3.0+/-9.4	0,3,4297	no	missense,missense	TTLL10	NM_001130045.1,NM_153254.2	24,24	0,3,6500	GG,GC,CC		0.0349,0.0,0.0231	benign,benign	295/674,222/405	1117795	3,13003	2203	4300	6503	SO:0001583	missense	254173				protein modification process		ATP binding|tubulin-tyrosine ligase activity	g.chr1:1117795C>G	AK093438	CCDS8.1, CCDS44036.1	1p36.33	2014-01-28	2005-07-29	2005-07-29	ENSG00000162571	ENSG00000162571		"""Tubulin tyrosine ligase-like family"""	26693	protein-coding gene	gene with protein product			"""tubulin tyrosine ligase-like family, member 5"""	TTLL5		15890843	Standard	NM_153254		Approved	FLJ36119	uc001acy.2	Q6ZVT0	OTTHUMG00000000851	ENST00000379290.1:c.885C>G	1.37:g.1117795C>G	ENSP00000368592:p.His295Gln					TTLL10_ENST00000379289.1_Missense_Mutation_p.H295Q|TTLL10_ENST00000379288.3_Missense_Mutation_p.H222Q	p.H295Q			Q6ZVT0	TTL10_HUMAN		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	10	1058	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	295			TTL.		B1AMF6|Q5T2W4|Q5T2W5|Q8N9X2	Missense_Mutation	SNP	ENST00000379290.1	37	c.885C>G	CCDS44036.1	.	.	.	.	.	.	.	.	.	.	C	0.124	-1.121815	0.01785	0.0	3.49E-4	ENSG00000162571	ENST00000379290;ENST00000379289;ENST00000379288	T;T;T	0.07567	3.18;3.18;3.18	3.28	-6.33	0.01988	.	2.595140	0.02357	N	0.076473	T	0.04272	0.0118	N	0.16656	0.425	0.09310	N	1	B;B	0.17268	0.017;0.021	B;B	0.10450	0.004;0.005	T	0.31998	-0.9923	10	0.40728	T	0.16	.	0.6593	0.00840	0.2862:0.3153:0.145:0.2535	.	222;295	Q6ZVT0-3;Q6ZVT0	.;TTL10_HUMAN	Q	295;295;222	ENSP00000368592:H295Q;ENSP00000368591:H295Q;ENSP00000368590:H222Q	ENSP00000368590:H222Q	H	+	3	2	TTLL10	1107658	0.000000	0.05858	0.033000	0.17914	0.002000	0.02628	-6.020000	0.00085	-1.352000	0.02194	-0.359000	0.07587	CAC		0.622	TTLL10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002421.3	NM_153254		15	106	0	0	0	1	0	15	106				
SPAST	6683	broad.mit.edu	37	2	32312619	32312619	+	Silent	SNP	A	A	G			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr2:32312619A>G	ENST00000315285.3	+	2	599	c.474A>G	c.(472-474)aaA>aaG	p.K158K	SPAST_ENST00000345662.1_Silent_p.K158K|AL121655.1_ENST00000577299.1_RNA	NM_014946.3	NP_055761.2			spastin											breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					AACTGGAAAAAGGAATAGCTG	0.318																																						ENST00000315285.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(472-474)aaA>aaG		spastin							133.0	143.0	140.0					2																	32312619		2203	4300	6503	SO:0001819	synonymous_variant	6683				cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|ER to Golgi vesicle-mediated transport|microtubule bundle formation|microtubule severing|nervous system development|protein hexamerization|protein homooligomerization	endoplasmic reticulum|endosome|integral to membrane|microtubule|microtubule organizing center|nucleus|perinuclear region of cytoplasm|spindle	alpha-tubulin binding|ATP binding|beta-tubulin binding|microtubule binding|microtubule-severing ATPase activity	g.chr2:32312619A>G	AJ246001	CCDS1778.1, CCDS1779.1	2p24-p21	2014-09-17	2005-03-15	2005-03-17	ENSG00000021574	ENSG00000021574		"""ATPases / AAA-type"""	11233	protein-coding gene	gene with protein product		604277	"""spastic paraplegia 4 (autosomal dominant; spastin)"""	SPG4		10493830, 10610178	Standard	NM_014946		Approved	FSP2, ADPSP, KIAA1083	uc002roc.3	Q9UBP0	OTTHUMG00000128455	ENST00000315285.3:c.474A>G	2.37:g.32312619A>G						SPAST_ENST00000345662.1_Silent_p.K158K	p.K158K	NM_014946.3	NP_055761.2	Q9UBP0	SPAST_HUMAN			2	599	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		158			MIT.|Required for interaction with RTN1.|Required for interaction with microtubules.|Required for midbody localization.|Sufficient for interaction with CHMP1B.			Silent	SNP	ENST00000315285.3	37	c.474A>G	CCDS1778.1																																																																																				0.318	SPAST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250253.1	NM_199436		4	110	0	0	0	1	0	4	110				
EPS8L3	79574	broad.mit.edu	37	1	110301232	110301232	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr1:110301232A>G	ENST00000361965.4	-	7	621	c.515T>C	c.(514-516)aTg>aCg	p.M172T	RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000369805.3_Missense_Mutation_p.M173T|EPS8L3_ENST00000494151.1_5'UTR|EPS8L3_ENST00000361852.4_Missense_Mutation_p.M172T	NM_133181.3	NP_573444.2	Q8TE67	ES8L3_HUMAN	EPS8-like 3	172	Pro-rich.					cytoplasm (GO:0005737)				breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		CGGCCTTTCCATAGCAGGCCC	0.597																																						ENST00000369805.3																			0				breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32						c.(517-519)aTg>aCg		EPS8-like 3							60.0	57.0	58.0					1																	110301232		2203	4300	6503	SO:0001583	missense	79574					cytoplasm	protein binding	g.chr1:110301232A>G	AK025175	CCDS813.1, CCDS814.1, CCDS815.1	1p13.2	2008-02-05			ENSG00000198758	ENSG00000198758			21297	protein-coding gene	gene with protein product		614989				12620401	Standard	NM_139053		Approved	FLJ21522, MGC16817	uc001dyq.2	Q8TE67	OTTHUMG00000011651	ENST00000361965.4:c.515T>C	1.37:g.110301232A>G	ENSP00000355255:p.Met172Thr					EPS8L3_ENST00000494151.1_5'UTR|RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000361852.4_Missense_Mutation_p.M172T|EPS8L3_ENST00000361965.4_Missense_Mutation_p.M172T	p.M173T	NM_133181.3|NM_139053.2	NP_573444.2|NP_620641.1	Q8TE67	ES8L3_HUMAN		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)	7	747	-		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)	172			Pro-rich.		A8K833|Q5T8Q6|Q5T8Q7|Q5T8Q8|Q96E47|Q9H719	Missense_Mutation	SNP	ENST00000361965.4	37	c.518T>C	CCDS814.1	.	.	.	.	.	.	.	.	.	.	A	5.062	0.197041	0.09599	.	.	ENSG00000198758	ENST00000361852;ENST00000369805;ENST00000361965	T;T;T	0.59224	2.64;0.28;0.28	5.35	-1.1	0.09872	.	0.965697	0.08555	N	0.928396	T	0.13756	0.0333	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.17268	0.005;0.021;0.001;0.009	B;B;B;B	0.15870	0.0;0.014;0.0;0.006	T	0.21075	-1.0256	10	0.23302	T	0.38	-1.0812	4.1323	0.10154	0.4766:0.0:0.3627:0.1607	.	172;172;172;173	A8K2J6;Q8TE67-2;Q8TE67;Q8TE67-3	.;.;ES8L3_HUMAN;.	T	172;173;172	ENSP00000354551:M172T;ENSP00000358820:M173T;ENSP00000355255:M172T	ENSP00000354551:M172T	M	-	2	0	EPS8L3	110102755	0.003000	0.15002	0.041000	0.18516	0.015000	0.08874	0.062000	0.14389	0.101000	0.17610	-0.274000	0.10170	ATG		0.597	EPS8L3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032234.1	NM_024526		24	42	0	0	0	1	0	24	42				
EEF1B2	1933	broad.mit.edu	37	2	207025358	207025358	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr2:207025358A>G	ENST00000392222.2	+	2	502	c.127A>G	c.(127-129)Agc>Ggc	p.S43G	NDUFS1_ENST00000455934.2_5'Flank|NDUFS1_ENST00000432169.1_5'Flank|EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G|NDUFS1_ENST00000457011.1_5'Flank|NDUFS1_ENST00000440274.1_5'Flank|NDUFS1_ENST00000423725.1_5'Flank|SNORA41_ENST00000384675.1_RNA|SNORD51_ENST00000384320.2_RNA|NDUFS1_ENST00000449699.1_5'Flank|EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G|NDUFS1_ENST00000233190.6_5'Flank	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	43	GST C-terminal.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)	translation elongation factor activity (GO:0003746)	p.S43G(4)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						AGCCGTGTCCAGCCCACCGCC	0.468																																						ENST00000392222.2																			4	Substitution - Missense(4)	p.S43G(4)	endometrium(2)|lung(1)|kidney(1)	breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						c.(127-129)Agc>Ggc		eukaryotic translation elongation factor 1 beta 2							109.0	99.0	102.0					2																	207025358		2203	4300	6503	SO:0001583	missense	1933					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	g.chr2:207025358A>G	X60489	CCDS2367.1	2q33.3	2011-04-28			ENSG00000114942	ENSG00000114942			3208	protein-coding gene	gene with protein product		600655				8250921	Standard	NM_001959		Approved		uc002vbf.1	P24534	OTTHUMG00000132891	ENST00000392222.2:c.127A>G	2.37:g.207025358A>G	ENSP00000376056:p.Ser43Gly					EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G|EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G	p.S43G	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN			2	502	+			43			GST C-terminal.		A8K795|Q6IBH9	Missense_Mutation	SNP	ENST00000392222.2	37	c.127A>G	CCDS2367.1	.	.	.	.	.	.	.	.	.	.	A	0.014	-1.585588	0.00872	.	.	ENSG00000114942	ENST00000236957;ENST00000392221;ENST00000392222;ENST00000445505	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.47	0.911	0.19343	Glutathione S-transferase, C-terminal-like (2);	0.442134	0.26800	N	0.022437	T	0.19846	0.0477	N	0.16098	0.37	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18745	-1.0327	10	0.17832	T	0.49	-2.1703	6.3337	0.21285	0.2348:0.0:0.6384:0.1268	.	43	P24534	EF1B_HUMAN	G	43	ENSP00000236957:S43G;ENSP00000376055:S43G;ENSP00000376056:S43G;ENSP00000407730:S43G	ENSP00000236957:S43G	S	+	1	0	EEF1B2	206733603	0.049000	0.20398	0.145000	0.22337	0.051000	0.14879	0.879000	0.28146	-0.027000	0.13873	-0.252000	0.11476	AGC		0.468	EEF1B2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336436.1	NM_001037663		4	103	0	0	0	1	0	4	103				
DBX2	440097	broad.mit.edu	37	12	45444478	45444478	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr12:45444478G>A	ENST00000332700.6	-	1	404	c.233C>T	c.(232-234)gCt>gTt	p.A78V	RP11-478B9.1_ENST00000548424.1_RNA	NM_001004329.2	NP_001004329.2	Q6ZNG2	DBX2_HUMAN	developing brain homeobox 2	78					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		AACTGGGCTAGCAGGCAGGGG	0.746																																						ENST00000332700.6																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22						c.(232-234)gCt>gTt		developing brain homeobox 2							2.0	2.0	2.0					12																	45444478		1612	3392	5004	SO:0001583	missense	440097					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:45444478G>A		CCDS31781.1	12q12	2011-06-20				ENSG00000185610		"""Homeoboxes / ANTP class : NKL subclass"""	33186	protein-coding gene	gene with protein product						11239429	Standard	NM_001004329		Approved	FLJ16139	uc001rok.1	Q6ZNG2	OTTHUMG00000169559	ENST00000332700.6:c.233C>T	12.37:g.45444478G>A	ENSP00000331470:p.Ala78Val						p.A78V	NM_001004329.2	NP_001004329.2	Q6ZNG2	DBX2_HUMAN		GBM - Glioblastoma multiforme(48;0.0515)	1	404	-	Lung SC(27;0.192)	Lung NSC(34;0.142)	78						Missense_Mutation	SNP	ENST00000332700.6	37	c.233C>T	CCDS31781.1	.	.	.	.	.	.	.	.	.	.	G	17.41	3.383185	0.61845	.	.	ENSG00000185610	ENST00000332700	D	0.91686	-2.89	3.0	3.0	0.34707	.	0.471742	0.17460	N	0.173485	D	0.83852	0.5344	N	0.24115	0.695	0.21386	N	0.99971	B	0.26635	0.155	B	0.23852	0.049	T	0.69135	-0.5225	10	0.15066	T	0.55	-5.9337	11.6437	0.51249	0.0:0.0:1.0:0.0	.	78	Q6ZNG2	DBX2_HUMAN	V	78	ENSP00000331470:A78V	ENSP00000331470:A78V	A	-	2	0	DBX2	43730745	1.000000	0.71417	0.072000	0.20136	0.011000	0.07611	2.933000	0.48948	1.684000	0.51022	0.558000	0.71614	GCT		0.746	DBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404810.1	NM_001004329		2	2	0	0	0	1	0	2	2				
SDHAP1	255812	broad.mit.edu	37	3	195711423	195711423	+	RNA	SNP	A	A	G	rs201502468		TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr3:195711423A>G	ENST00000427841.1	-	0	524					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		CTCTTGTACTAGAAACAGACC	0.552																																					Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			0							g.chr3:195711423A>G	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195711423A>G								NR_003264.2						0	524	-									RNA	SNP	ENST00000427841.1	37																																																																																						0.552	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			4	55	0	0	0	1	0	4	55				
CDHR1	92211	broad.mit.edu	37	10	85961671	85961671	+	Missense_Mutation	SNP	G	G	A	rs200880106		TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr10:85961671G>A	ENST00000372117.3	+	7	737	c.634G>A	c.(634-636)Gcc>Acc	p.A212T	CDHR1_ENST00000440770.2_5'UTR|CDHR1_ENST00000332904.3_Missense_Mutation_p.A212T	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	212	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.		A -> T. {ECO:0000269|PubMed:16288196}.		cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						CACCGTGGTCGCCAAGGTAAC	0.617																																						ENST00000372117.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36	GRCh37	CM056677	CDHR1	M		c.(634-636)Gcc>Acc		cadherin-related family member 1		G	THR/ALA,THR/ALA	0,4406		0,0,2203	59.0	65.0	63.0		634,634	5.2	1.0	10		63	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CDHR1	NM_001171971.1,NM_033100.2	58,58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	212/746,212/860	85961671	1,13005	2203	4300	6503	SO:0001583	missense	92211				homophilic cell adhesion		calcium ion binding|receptor activity	g.chr10:85961671G>A	AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"""Cadherins / Cadherin-related"""	14550	protein-coding gene	gene with protein product		609502	"""protocadherin 21"""	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.634G>A	10.37:g.85961671G>A	ENSP00000361189:p.Ala212Thr					CDHR1_ENST00000332904.3_Missense_Mutation_p.A212T|CDHR1_ENST00000440770.2_5'UTR	p.A212T	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN			7	737	+			212		A -> T.	Cadherin 2.		Q69YZ8|Q8IXY5	Missense_Mutation	SNP	ENST00000372117.3	37	c.634G>A	CCDS7372.1	.	.	.	.	.	.	.	.	.	.	G	32	5.112920	0.94339	0.0	1.16E-4	ENSG00000148600	ENST00000332904;ENST00000372117	T;T	0.36878	1.23;1.23	5.16	5.16	0.70880	Cadherin (5);Cadherin-like (1);	0.051920	0.85682	D	0.000000	T	0.70395	0.3219	H	0.95611	3.695	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.68192	0.949;0.956	T	0.80197	-0.1482	10	0.87932	D	0	-26.7635	15.9134	0.79491	0.0:0.0:1.0:0.0	.	212;212	Q96JP9-2;Q96JP9	.;CDHR1_HUMAN	T	212	ENSP00000331063:A212T;ENSP00000361189:A212T	ENSP00000331063:A212T	A	+	1	0	CDHR1	85951651	1.000000	0.71417	0.994000	0.49952	0.774000	0.43823	8.827000	0.92041	2.583000	0.87209	0.655000	0.94253	GCC		0.617	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049111.1	NM_033100		6	17	0	0	0	1	0	6	17				
ALOX15	246	broad.mit.edu	37	17	4541945	4541945	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr17:4541945C>A	ENST00000570836.1	-	6	673	c.577G>T	c.(577-579)Gtt>Ttt	p.V193F	ALOX15_ENST00000293761.3_Missense_Mutation_p.V193F|ALOX15_ENST00000574640.1_Missense_Mutation_p.V154F|ALOX15_ENST00000545513.1_Missense_Mutation_p.V215F			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	193	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				apoptotic cell clearance (GO:0043277)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|cellular response to calcium ion (GO:0071277)|cellular response to interleukin-13 (GO:0035963)|hepoxilin biosynthetic process (GO:0051122)|inflammatory response (GO:0006954)|leukotriene metabolic process (GO:0006691)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxygenase pathway (GO:0019372)|negative regulation of adaptive immune response (GO:0002820)|ossification (GO:0001503)|phosphatidylethanolamine biosynthetic process (GO:0006646)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of engulfment of apoptotic cell (GO:1901074)|regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	arachidonate 12-lipoxygenase activity (GO:0004052)|arachidonate 15-lipoxygenase activity (GO:0050473)|eoxin A4 synthase activity (GO:0097260)|iron ion binding (GO:0005506)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)		CAAGTCAGAACATTTAGAGAG	0.532																																						ENST00000570836.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20						c.(577-579)Gtt>Ttt		arachidonate 15-lipoxygenase	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)						69.0	69.0	69.0					17																	4541945		2203	4300	6503	SO:0001583	missense	246				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity	g.chr17:4541945C>A	M23892	CCDS11049.1	17p13.3	2010-09-24			ENSG00000161905	ENSG00000161905	1.13.11.33	"""Arachidonate lipoxygenases"""	433	protein-coding gene	gene with protein product		152392				1570320	Standard	NM_001140		Approved	15-LOX-1	uc002fyh.3	P16050	OTTHUMG00000090746	ENST00000570836.1:c.577G>T	17.37:g.4541945C>A	ENSP00000458832:p.Val193Phe					ALOX15_ENST00000545513.1_Missense_Mutation_p.V215F|ALOX15_ENST00000293761.3_Missense_Mutation_p.V193F|ALOX15_ENST00000574640.1_Missense_Mutation_p.V154F	p.V193F			P16050	LOX15_HUMAN		READ - Rectum adenocarcinoma(115;0.0327)	6	673	-			193			Lipoxygenase.		A8K2P4|B7ZA11|Q8N6R7|Q99657	Missense_Mutation	SNP	ENST00000570836.1	37	c.577G>T	CCDS11049.1	.	.	.	.	.	.	.	.	.	.	C	1.391	-0.580680	0.03854	.	.	ENSG00000161905	ENST00000293761;ENST00000545513	T;T	0.79141	-1.24;-1.24	4.55	-4.92	0.03075	Lipoxygenase, C-terminal (3);	2.461850	0.01412	N	0.014054	T	0.51719	0.1691	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.002;0.002	T	0.53662	-0.8407	10	0.09084	T	0.74	-16.4216	8.5987	0.33732	0.0:0.5678:0.1484:0.2838	.	215;154;193	F5H0G8;B7ZA11;P16050	.;.;LOX15_HUMAN	F	193;215	ENSP00000293761:V193F;ENSP00000439855:V215F	ENSP00000293761:V193F	V	-	1	0	ALOX15	4488694	0.000000	0.05858	0.000000	0.03702	0.318000	0.28184	-4.274000	0.00262	-1.425000	0.01997	-0.291000	0.09656	GTT		0.532	ALOX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207487.2			3	65	1	0	0.00909568	1	0.00926106	3	65				
DPY19L2P2	349152	broad.mit.edu	37	7	102895274	102895274	+	RNA	SNP	T	T	C			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr7:102895274T>C	ENST00000312132.4	-	0	2570							Q6ZN68	D19P2_HUMAN	DPY19L2 pseudogene 2							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										CATTAGTCCATTTAAAATAAA	0.338																																						ENST00000312132.4																			0																																																			0							g.chr7:102895274T>C	AL834175		7q22.1	2013-09-12	2013-09-12		ENSG00000170629	ENSG00000170629			21764	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 2 (C. elegans)"""				Standard	NR_027768		Approved	DKFZp434E092, FLJ36166	uc003vbh.4	Q6ZN68	OTTHUMG00000157200		7.37:g.102895274T>C														0	2570	-								Q8N9V4|Q8ND62	RNA	SNP	ENST00000312132.4	37																																																																																						0.338	DPY19L2P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347877.1	NM_182634		9	55	0	0	0	1	0	9	55				
NOTCH2NL	388677	broad.mit.edu	37	1	145281379	145281379	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr1:145281379C>G	ENST00000369340.3	+	5	753	c.309C>G	c.(307-309)tgC>tgG	p.C103W	NOTCH2NL_ENST00000362074.6_Missense_Mutation_p.C103W|NOTCH2NL_ENST00000344859.3_Missense_Mutation_p.C103W|RP11-458D21.5_ENST00000468030.1_Missense_Mutation_p.C103W			Q7Z3S9	NT2NL_HUMAN	notch 2 N-terminal like	103	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|Notch signaling pathway (GO:0007219)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						GTAAGGAGTGCCAATGGACCG	0.507																																						ENST00000369340.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						c.(307-309)tgC>tgG		notch 2 N-terminal like							333.0	339.0	337.0					1																	145281379		2203	4298	6501	SO:0001583	missense	388677				cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding	g.chr1:145281379C>G		CCDS72880.1	1q21.2	2010-06-24	2010-06-24		ENSG00000213240	ENSG00000213240			31862	protein-coding gene	gene with protein product			"""Notch homolog 2 (Drosophila) N-terminal like"""			14673143	Standard	NM_203458		Approved	N2N	uc001emn.4	Q7Z3S9	OTTHUMG00000013754	ENST00000369340.3:c.309C>G	1.37:g.145281379C>G	ENSP00000358346:p.Cys103Trp					NOTCH2NL_ENST00000362074.6_Missense_Mutation_p.C103W|NOTCH2NL_ENST00000344859.3_Missense_Mutation_p.C103W|RP11-458D21.5_ENST00000468030.1_Missense_Mutation_p.C103W	p.C103W			Q7Z3S9	NT2NL_HUMAN			5	753	+			103			EGF-like 3.		Q5BKT8|Q5VTG9|Q5XG84|Q6P192|Q8NC23|Q8WUQ9|Q96FY1	Missense_Mutation	SNP	ENST00000369340.3	37	c.309C>G	CCDS909.1	.	.	.	.	.	.	.	.	.	.	C	12.52	1.961553	0.34659	.	.	ENSG00000213240	ENST00000362074;ENST00000344859;ENST00000369340	D;D;D	0.90133	-2.62;-2.62;-2.62	2.87	1.91	0.25777	Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.95968	0.8687	H	0.99026	4.405	0.54753	D	0.999984	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.94040	0.7308	9	0.87932	D	0	.	6.9681	0.24635	0.0:0.8454:0.0:0.1546	.	103;103	Q7Z3S9-2;Q7Z3S9	.;NT2NL_HUMAN	W	103	ENSP00000354929:C103W;ENSP00000344557:C103W;ENSP00000358346:C103W	ENSP00000344557:C103W	C	+	3	2	NOTCH2NL	143992736	0.978000	0.34361	0.999000	0.59377	0.798000	0.45092	0.245000	0.18142	0.497000	0.27926	0.400000	0.26472	TGC		0.507	NOTCH2NL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000038546.1	NM_203458		63	641	0	0	0	1	0	63	641				
BHLHE41	79365	broad.mit.edu	37	12	26277809	26277809	+	De_novo_Start_OutOfFrame	SNP	G	G	A			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr12:26277809G>A	ENST00000242728.4	-	0	251				RP11-283G6.3_ENST00000545819.1_RNA|RP11-283G6.3_ENST00000535914.1_RNA	NM_030762.2	NP_110389.1	Q9C0J9	BHE41_HUMAN	basic helix-loop-helix family, member e41						cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|circadian regulation of gene expression (GO:0032922)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)	nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|histone deacetylase binding (GO:0042826)|MRF binding (GO:0043426)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|transcription corepressor activity (GO:0003714)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)	5						GGATCTGTGCGTCTCCAGTCT	0.552																																						ENST00000242728.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)	5								basic helix-loop-helix family, member e41																																						79365				cell differentiation|cell proliferation|organ morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:26277809G>A	AB044088	CCDS8706.1	12p12.1	2011-12-05	2009-01-12	2009-01-12	ENSG00000123095	ENSG00000123095		"""Basic helix-loop-helix proteins"""	16617	protein-coding gene	gene with protein product	"""differentially expressed in chondrocytes 2"", ""Enhancer-of-split and hairy-related protein 1"""	606200	"""basic helix-loop-helix domain containing, class B, 3"""	BHLHB3		11162494, 18557763	Standard	NM_030762		Approved	DEC2, SHARP-1, SHARP1, bHLHe41	uc001rhb.3	Q9C0J9	OTTHUMG00000169174	ENST00000242728.4:c.-97C>T	12.37:g.26277809G>A								NM_030762.2	NP_110389.1	Q9C0J9	BHE41_HUMAN			0	251	-								A2I2N8	Translation_Start_Site	SNP	ENST00000242728.4	37		CCDS8706.1																																																																																				0.552	BHLHE41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402714.1	NM_030762		3	16	0	0	0	1	0	3	16				
MAPKAPK5	8550	broad.mit.edu	37	12	112326400	112326400	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr12:112326400C>G	ENST00000551404.2	+	11	1186	c.1078C>G	c.(1078-1080)Ctg>Gtg	p.L360V	MAPKAPK5_ENST00000550735.2_Missense_Mutation_p.L360V			Q8IW41	MAPK5_HUMAN	mitogen-activated protein kinase-activated protein kinase 5	360					activation of MAPK activity (GO:0000187)|MAPK cascade (GO:0000165)|negative regulation of TOR signaling (GO:0032007)|protein autophosphorylation (GO:0046777)|Ras protein signal transduction (GO:0007265)|regulation of translation (GO:0006417)|signal transduction (GO:0007165)|stress-induced premature senescence (GO:0090400)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|lung(11)|ovary(1)	13						CAACCCCATTCTGCGGAAGAG	0.463																																						ENST00000550735.2																			0				endometrium(1)|lung(11)|ovary(1)	13						c.(1078-1080)Ctg>Gtg		mitogen-activated protein kinase-activated protein kinase 5							126.0	127.0	126.0					12																	112326400		1934	4142	6076	SO:0001583	missense	8550				signal transduction	cytoplasm|nucleus	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity	g.chr12:112326400C>G	AF032437	CCDS44975.1, CCDS44976.1	12q24.13	2012-05-30			ENSG00000089022	ENSG00000089022			6889	protein-coding gene	gene with protein product		606723				9628874	Standard	NM_003668		Approved	PRAK	uc001tta.4	Q8IW41	OTTHUMG00000169605	ENST00000551404.2:c.1078C>G	12.37:g.112326400C>G	ENSP00000449381:p.Leu360Val					MAPKAPK5_ENST00000551404.2_Missense_Mutation_p.L360V	p.L360V	NM_003668.2|NM_139078.1	NP_003659.2|NP_620777.1	Q8IW41	MAPK5_HUMAN			11	1834	+			360					B3KVA5|O60491|Q86X46|Q9BVX9|Q9UG86	Missense_Mutation	SNP	ENST00000551404.2	37	c.1078C>G	CCDS44975.1	.	.	.	.	.	.	.	.	.	.	C	19.77	3.888774	0.72524	.	.	ENSG00000089022	ENST00000550735;ENST00000202788;ENST00000428907;ENST00000551404;ENST00000552111;ENST00000547067	T;T	0.56103	0.48;0.49	6.08	6.08	0.98989	Protein kinase-like domain (1);	0.122287	0.56097	D	0.000023	T	0.62429	0.2427	N	0.24115	0.695	0.80722	D	1	P;P;D	0.56035	0.546;0.956;0.974	B;P;D	0.67725	0.373;0.899;0.953	T	0.62751	-0.6788	10	0.56958	D	0.05	.	20.6634	0.99662	0.0:1.0:0.0:0.0	.	354;360;360	C9J458;Q8IW41;Q8IW41-2	.;MAPK5_HUMAN;.	V	360;360;360;360;41;21	ENSP00000449667:L360V;ENSP00000449381:L360V	ENSP00000202788:L360V	L	+	1	2	MAPKAPK5	110810783	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.656000	0.67988	2.894000	0.99253	0.655000	0.94253	CTG		0.463	MAPKAPK5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405019.2	NM_139078		45	64	0	0	0	1	0	45	64				
KRTAP4-1	85285	broad.mit.edu	37	17	39340671	39340671	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr17:39340671A>G	ENST00000398472.1	-	1	923	c.436T>C	c.(436-438)Tgt>Cgt	p.C146R				Q9BYQ7	KRA41_HUMAN	keratin associated protein 4-1	146						keratin filament (GO:0045095)				kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			GAGGTTCAACAAGAGGATCCA	0.527																																						ENST00000398472.1																			0				kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5						c.(436-438)Tgt>Cgt		keratin associated protein 4-1							110.0	116.0	114.0					17																	39340671		2138	4272	6410	SO:0001583	missense	85285					keratin filament		g.chr17:39340671A>G	AC006070		17q21.2	2013-06-25			ENSG00000198443	ENSG00000198443		"""Keratin associated proteins"""	18907	protein-coding gene	gene with protein product			"""keratin associated protein 4-10"""	KRTAP4-10		11279113	Standard	NM_033060		Approved	KAP4.1, KAP4.10	uc002hwe.4	Q9BYQ7	OTTHUMG00000132081	ENST00000398472.1:c.436T>C	17.37:g.39340671A>G	ENSP00000381489:p.Cys146Arg						p.C146R			Q9BYQ7	KRA41_HUMAN	STAD - Stomach adenocarcinoma(17;0.000449)		1	923	-		Breast(137;0.000496)	146					A8MWS7|Q3SYF2	Missense_Mutation	SNP	ENST00000398472.1	37	c.436T>C		.	.	.	.	.	.	.	.	.	.	.	12.70	2.015426	0.35511	.	.	ENSG00000198443	ENST00000398472;ENST00000334190	T	0.02236	4.38	4.76	4.76	0.60689	.	.	.	.	.	T	0.03871	0.0109	.	.	.	0.20764	N	0.99985	P	0.41131	0.739	B	0.43274	0.414	T	0.37267	-0.9713	8	0.87932	D	0	.	10.6524	0.45655	1.0:0.0:0.0:0.0	.	146	Q9BYQ7	KRA41_HUMAN	R	146;127	ENSP00000381489:C146R	ENSP00000335483:C127R	C	-	1	0	KRTAP4-1	36594197	0.207000	0.23482	0.006000	0.13384	0.008000	0.06430	3.878000	0.56130	1.744000	0.51775	0.533000	0.62120	TGT		0.527	KRTAP4-1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255108.1	NM_033060		5	226	0	0	0	1	0	5	226				
EHBP1L1	254102	broad.mit.edu	37	11	65349635	65349635	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr11:65349635G>T	ENST00000309295.4	+	9	1757	c.1492G>T	c.(1492-1494)Gcc>Tcc	p.A498S		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	498						membrane (GO:0016020)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						CCTCGAGGGGGCCAGGGCTGC	0.672																																						ENST00000309295.4																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(1492-1494)Gcc>Tcc		EH domain binding protein 1-like 1							17.0	19.0	18.0					11																	65349635		1955	4129	6084	SO:0001583	missense	254102							g.chr11:65349635G>T	AL834433	CCDS44649.1	11q13.1	2008-02-05			ENSG00000173442	ENSG00000173442			30682	protein-coding gene	gene with protein product							Standard	NM_001099409		Approved	DKFZp762C186, TANGERIN	uc001oeo.4	Q8N3D4	OTTHUMG00000166520	ENST00000309295.4:c.1492G>T	11.37:g.65349635G>T	ENSP00000312671:p.Ala498Ser						p.A498S	NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN			9	1757	+			498					Q8TB89|Q9H7M7	Missense_Mutation	SNP	ENST00000309295.4	37	c.1492G>T	CCDS44649.1	.	.	.	.	.	.	.	.	.	.	G	19.79	3.893636	0.72639	.	.	ENSG00000173442	ENST00000309295	T	0.66460	-0.21	4.95	-0.69	0.11309	.	0.559584	0.15030	N	0.284539	T	0.46386	0.1390	L	0.32530	0.975	0.09310	N	1	B	0.14805	0.011	B	0.13407	0.009	T	0.26430	-1.0103	10	0.40728	T	0.16	.	2.3476	0.04275	0.1366:0.1352:0.4531:0.2751	.	498	Q8N3D4	EH1L1_HUMAN	S	498	ENSP00000312671:A498S	ENSP00000312671:A498S	A	+	1	0	EHBP1L1	65106211	0.000000	0.05858	0.000000	0.03702	0.465000	0.32709	0.013000	0.13310	0.074000	0.16767	0.561000	0.74099	GCC		0.672	EHBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390145.1	XM_170658		5	17	1	0	0.00448238	1	0.0046484	5	17				
KRTAP13-4	284827	broad.mit.edu	37	21	31802730	31802730	+	Missense_Mutation	SNP	C	C	T	rs558455896		TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr21:31802730C>T	ENST00000334068.2	+	1	159	c.137C>T	c.(136-138)tCt>tTt	p.S46F		NM_181600.1	NP_853631.1	Q3LI77	KR134_HUMAN	keratin associated protein 13-4	46	4 X 10 AA approximate repeats.					intermediate filament (GO:0005882)				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	15						CTGCGTTCCTCTCTCTACAGG	0.632													-|||	1	0.000199681	0.0	0.0	5008	,	,		17795	0.001		0.0	False		,,,				2504	0.0				NSCLC(196;2401 3038 18004 35753)	ENST00000334068.2																			0				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	15						c.(136-138)tCt>tTt		keratin associated protein 13-4							68.0	70.0	69.0					21																	31802730		2203	4300	6503	SO:0001583	missense	284827					intermediate filament		g.chr21:31802730C>T	AP001708	CCDS13592.1	21q22.1	2006-03-13			ENSG00000186971	ENSG00000186971		"""Keratin associated proteins"""	18926	protein-coding gene	gene with protein product						12359730	Standard	NM_181600		Approved	KAP13.4	uc011acw.2	Q3LI77	OTTHUMG00000057770	ENST00000334068.2:c.137C>T	21.37:g.31802730C>T	ENSP00000334834:p.Ser46Phe						p.S46F	NM_181600.1	NP_853631.1	Q3LI77	KR134_HUMAN			1	159	+			46			4 X 10 AA approximate repeats.		A2RRL3	Missense_Mutation	SNP	ENST00000334068.2	37	c.137C>T	CCDS13592.1	.	.	.	.	.	.	.	.	.	.	-	13.33	2.204746	0.38905	.	.	ENSG00000186971	ENST00000334068	T	0.03801	3.8	4.95	2.92	0.33932	.	0.331041	0.22033	N	0.065565	T	0.10423	0.0255	M	0.86028	2.79	0.21579	N	0.99964	B	0.26602	0.154	B	0.32677	0.15	T	0.07252	-1.0782	10	0.46703	T	0.11	.	9.4826	0.38911	0.3858:0.6142:0.0:0.0	.	46	Q3LI77	KR134_HUMAN	F	46	ENSP00000334834:S46F	ENSP00000334834:S46F	S	+	2	0	KRTAP13-4	30724601	0.031000	0.19500	0.387000	0.26183	0.145000	0.21501	0.974000	0.29436	1.349000	0.45751	0.650000	0.86243	TCT		0.632	KRTAP13-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128222.1			40	47	0	0	0	1	0	40	47				
BAI3	577	broad.mit.edu	37	6	69349086	69349086	+	Silent	SNP	T	T	G			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr6:69349086T>G	ENST00000370598.1	+	3	1340	c.519T>G	c.(517-519)acT>acG	p.T173T		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	173					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TATTATGTACTTGGTTGGAGA	0.413																																						ENST00000370598.1																			0				NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210						c.(517-519)acT>acG		brain-specific angiogenesis inhibitor 3							76.0	77.0	77.0					6																	69349086		2203	4300	6503	SO:0001819	synonymous_variant	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:69349086T>G	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.519T>G	6.37:g.69349086T>G							p.T173T	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN			3	1340	+		all_lung(197;0.212)	173					B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Silent	SNP	ENST00000370598.1	37	c.519T>G	CCDS4968.1																																																																																				0.413	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			3	86	0	0	0	1	0	3	86				
LOC101927079	101927079	broad.mit.edu	37	15	22332492	22332492	+	RNA	SNP	A	A	C	rs540968052		TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr15:22332492A>C	ENST00000558896.1	+	0	299																											TATTTCTCTTATTACTATTTT	0.383																																						ENST00000558896.1																			0																																																			0							g.chr15:22332492A>C																													15.37:g.22332492A>C														0	299	+									RNA	SNP	ENST00000558896.1	37																																																																																						0.383	RP11-69H14.6-001	KNOWN	basic	sense_overlapping	sense_overlapping	OTTHUMT00000417625.1			5	177	0	0	0	1	0	5	177				
SEL1L3	23231	broad.mit.edu	37	4	25785893	25785893	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr4:25785893T>C	ENST00000399878.3	-	14	2359	c.2237A>G	c.(2236-2238)aAc>aGc	p.N746S	SEL1L3_ENST00000502949.1_Missense_Mutation_p.N593S|SEL1L3_ENST00000264868.5_Missense_Mutation_p.N711S	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	746						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						AAGCCGTCTGTTCTTTTTTAC	0.418																																						ENST00000399878.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						c.(2236-2238)aAc>aGc		sel-1 suppressor of lin-12-like 3 (C. elegans)							235.0	229.0	231.0					4																	25785893		1972	4148	6120	SO:0001583	missense	23231					integral to membrane	binding	g.chr4:25785893T>C	BC009945	CCDS47037.1, CCDS75113.1	4p15.2	2009-09-24			ENSG00000091490	ENSG00000091490			29108	protein-coding gene	gene with protein product	"""KIAA0746 protein"""					9872452	Standard	XM_005248143		Approved	KIAA0746	uc003gru.4	Q68CR1	OTTHUMG00000160331	ENST00000399878.3:c.2237A>G	4.37:g.25785893T>C	ENSP00000382767:p.Asn746Ser					SEL1L3_ENST00000502949.1_Missense_Mutation_p.N593S|SEL1L3_ENST00000264868.5_Missense_Mutation_p.N711S	p.N746S	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN			14	2359	-			746					A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Missense_Mutation	SNP	ENST00000399878.3	37	c.2237A>G	CCDS47037.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.941972	0.73557	.	.	ENSG00000091490	ENST00000399878;ENST00000264868;ENST00000502949	T;T;T	0.54675	0.56;0.56;0.56	5.58	5.58	0.84498	Tetratricopeptide-like helical (1);	0.048441	0.85682	D	0.000000	T	0.58779	0.2146	N	0.19112	0.55	0.43073	D	0.994718	D;D	0.76494	0.995;0.999	P;D	0.72625	0.86;0.978	T	0.63945	-0.6522	10	0.56958	D	0.05	-27.3311	15.4199	0.75003	0.0:0.0:0.0:1.0	.	153;746	B4DTH5;Q68CR1	.;SE1L3_HUMAN	S	746;711;593	ENSP00000382767:N746S;ENSP00000264868:N711S;ENSP00000425438:N593S	ENSP00000264868:N711S	N	-	2	0	SEL1L3	25394991	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.552000	0.67281	2.136000	0.66102	0.454000	0.30748	AAC		0.418	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360261.1	NM_015187		8	156	0	0	0	1	0	8	156				
FAM66D	100132923	broad.mit.edu	37	8	11986016	11986016	+	RNA	SNP	C	C	A	rs542617314	byFrequency	TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr8:11986016C>A	ENST00000434078.2	+	0	608					NR_027425.1				family with sequence similarity 66, member D																		AACGTCTTGGCGGCAGGCGCC	0.478																																						ENST00000434078.2																			0																																																			0							g.chr8:11986016C>A			8p23.1	2013-07-05			ENSG00000255052	ENSG00000255052		"""Long non-coding RNAs"""	24159	non-coding RNA	RNA, long non-coding							Standard	NR_027425		Approved				OTTHUMG00000165269		8.37:g.11986016C>A								NR_027425.1						0	608	+									RNA	SNP	ENST00000434078.2	37																																																																																						0.478	FAM66D-201	KNOWN	basic	antisense	antisense		NR_027425		5	94	1	0	0.0215528	1	0.0215528	5	94				
SPG11	80208	broad.mit.edu	37	15	44865858	44865858	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr15:44865858C>T	ENST00000261866.7	-	32	6108	c.6092G>A	c.(6091-6093)cGa>cAa	p.R2031Q	SPG11_ENST00000535302.2_Intron|SPG11_ENST00000558319.1_Missense_Mutation_p.R2031Q|SPG11_ENST00000427534.2_Missense_Mutation_p.R2031Q	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	2031					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		TCGTTTGCATCGGTCAGGCTG	0.547																																						ENST00000261866.7																			0				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72						c.(6091-6093)cGa>cAa		spastic paraplegia 11 (autosomal recessive)							98.0	78.0	85.0					15																	44865858		2198	4298	6496	SO:0001583	missense	80208				cell death	cytosol|integral to membrane|nucleus	protein binding	g.chr15:44865858C>T		CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.6092G>A	15.37:g.44865858C>T	ENSP00000261866:p.Arg2031Gln					SPG11_ENST00000535302.2_Intron|SPG11_ENST00000427534.2_Missense_Mutation_p.R2031Q|SPG11_ENST00000558319.1_Missense_Mutation_p.R2031Q	p.R2031Q	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)	32	6108	-		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)	2031					A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	ENST00000261866.7	37	c.6092G>A	CCDS10112.1	.	.	.	.	.	.	.	.	.	.	C	35	5.573181	0.96553	.	.	ENSG00000104133	ENST00000261866;ENST00000427534	T;T	0.78364	-1.17;-0.91	6.17	6.17	0.99709	.	0.053398	0.85682	D	0.000000	D	0.86606	0.5973	M	0.73598	2.24	0.80722	D	1	D;D	0.76494	0.999;0.999	P;P	0.61070	0.883;0.809	D	0.84558	0.0648	10	0.38643	T	0.18	.	18.6524	0.91435	0.0:1.0:0.0:0.0	.	2031;2031	C4B7M2;Q96JI7	.;SPTCS_HUMAN	Q	2031	ENSP00000261866:R2031Q;ENSP00000396110:R2031Q	ENSP00000261866:R2031Q	R	-	2	0	SPG11	42653150	0.971000	0.33674	1.000000	0.80357	0.997000	0.91878	4.236000	0.58675	2.941000	0.99782	0.655000	0.94253	CGA		0.547	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1			9	42	0	0	0	1	0	9	42				
FANCA	2175	broad.mit.edu	37	16	89831297	89831297	+	Splice_Site	SNP	C	C	T	rs140180549		TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr16:89831297C>T	ENST00000389301.3	-	28	2809		c.e28+1		FANCA_ENST00000568369.1_Splice_Site	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A						DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		CGGTCACCTACGTGAACATCT	0.552			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000389301.3			yes	Rec		Fanconi anaemia A	16	16q24.3	2175	"""D, Mis, N, F, S"""	"""Fanconi anemia, complementation group A"""			L		"""AML, leukemia"""			0				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47						c.e28+1	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group A							119.0	98.0	105.0					16																	89831297		2198	4300	6498	SO:0001630	splice_region_variant	2175	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding	g.chr16:89831297C>T	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"""Fanconi anemia, complementation groups"""	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.2778+1G>A	16.37:g.89831297C>T						FANCA_ENST00000568369.1_Splice_Site		NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.028)	28	2809	-		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)						A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Splice_Site	SNP	ENST00000389301.3	37		CCDS32515.1	.	.	.	.	.	.	.	.	.	.	C	13.57	2.276354	0.40294	.	.	ENSG00000187741	ENST00000389301	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3113	0.66416	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FANCA	88358798	0.986000	0.35501	0.612000	0.29024	0.012000	0.07955	4.034000	0.57289	2.440000	0.82611	0.650000	0.86243	.		0.552	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421927.1		Intron	3	64	0	0	0	1	0	3	64				
EEF1B2	1933	broad.mit.edu	37	2	207025366	207025366	+	Silent	SNP	G	G	A			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr2:207025366G>A	ENST00000392222.2	+	2	510	c.135G>A	c.(133-135)ccG>ccA	p.P45P	NDUFS1_ENST00000455934.2_5'Flank|NDUFS1_ENST00000432169.1_5'Flank|EEF1B2_ENST00000392221.1_Silent_p.P45P|NDUFS1_ENST00000457011.1_5'Flank|NDUFS1_ENST00000440274.1_5'Flank|NDUFS1_ENST00000423725.1_5'Flank|SNORA41_ENST00000384675.1_RNA|SNORD51_ENST00000384320.2_RNA|NDUFS1_ENST00000449699.1_5'Flank|EEF1B2_ENST00000236957.5_Silent_p.P45P|NDUFS1_ENST00000233190.6_5'Flank	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	45	GST C-terminal.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)	translation elongation factor activity (GO:0003746)	p.P45P(5)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						CCAGCCCACCGCCTGCCGACT	0.448																																						ENST00000392222.2																			5	Substitution - coding silent(5)	p.P45P(5)	kidney(2)|endometrium(2)|lung(1)	breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						c.(133-135)ccG>ccA		eukaryotic translation elongation factor 1 beta 2							109.0	99.0	102.0					2																	207025366		2203	4300	6503	SO:0001819	synonymous_variant	1933					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	g.chr2:207025366G>A	X60489	CCDS2367.1	2q33.3	2011-04-28			ENSG00000114942	ENSG00000114942			3208	protein-coding gene	gene with protein product		600655				8250921	Standard	NM_001959		Approved		uc002vbf.1	P24534	OTTHUMG00000132891	ENST00000392222.2:c.135G>A	2.37:g.207025366G>A						EEF1B2_ENST00000236957.5_Silent_p.P45P|EEF1B2_ENST00000392221.1_Silent_p.P45P	p.P45P	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN			2	510	+			45			GST C-terminal.		A8K795|Q6IBH9	Silent	SNP	ENST00000392222.2	37	c.135G>A	CCDS2367.1																																																																																				0.448	EEF1B2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336436.1	NM_001037663		4	104	0	0	0	1	0	4	104				
PCDH11X	27328	broad.mit.edu	37	X	91132876	91132876	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chrX:91132876G>T	ENST00000373094.1	+	2	2482	c.1637G>T	c.(1636-1638)gGg>gTg	p.G546V	PCDH11X_ENST00000373097.1_Missense_Mutation_p.G546V|PCDH11X_ENST00000373088.1_Missense_Mutation_p.G546V|PCDH11X_ENST00000361724.1_Missense_Mutation_p.G546V|PCDH11X_ENST00000406881.1_Missense_Mutation_p.G546V|PCDH11X_ENST00000361655.2_Missense_Mutation_p.G546V|PCDH11X_ENST00000395337.2_Missense_Mutation_p.G546V|PCDH11X_ENST00000298274.8_Missense_Mutation_p.G546V|PCDH11X_ENST00000504220.2_Missense_Mutation_p.G546V	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	546	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						AAAGATAACGGGGTACCACCC	0.383																																					NSCLC(38;925 1092 2571 38200 45895)	ENST00000373094.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(1636-1638)gGg>gTg		protocadherin 11 X-linked							97.0	91.0	93.0					X																	91132876		2203	4300	6503	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91132876G>T	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.1637G>T	X.37:g.91132876G>T	ENSP00000362186:p.Gly546Val					PCDH11X_ENST00000361724.1_Missense_Mutation_p.G546V|PCDH11X_ENST00000373088.1_Missense_Mutation_p.G546V|PCDH11X_ENST00000395337.2_Missense_Mutation_p.G546V|PCDH11X_ENST00000361655.2_Missense_Mutation_p.G546V|PCDH11X_ENST00000504220.1_Missense_Mutation_p.G546V|PCDH11X_ENST00000373097.1_Missense_Mutation_p.G546V|PCDH11X_ENST00000298274.8_Missense_Mutation_p.G546V|PCDH11X_ENST00000406881.1_Missense_Mutation_p.G546V	p.G546V	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN			2	2482	+			546			Cadherin 5.		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.1637G>T	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	G	13.55	2.269555	0.40095	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.74737	-0.87;-0.31;-0.31;-0.87;-0.31;-0.87;-0.31;-0.31;-0.31	5.38	5.38	0.77491	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.91630	0.7355	H	0.98133	4.155	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.94793	0.7964	10	0.87932	D	0	.	17.0331	0.86466	0.0:0.0:1.0:0.0	.	546;546;546;546;546;546;546;546	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	V	546	ENSP00000378746:G546V;ENSP00000362186:G546V;ENSP00000362189:G546V;ENSP00000355040:G546V;ENSP00000362180:G546V;ENSP00000423762:G546V;ENSP00000355105:G546V;ENSP00000384758:G546V;ENSP00000298274:G546V	ENSP00000298274:G546V	G	+	2	0	PCDH11X	91019532	1.000000	0.71417	0.855000	0.33649	0.329000	0.28539	9.507000	0.97996	2.231000	0.72958	0.544000	0.68410	GGG		0.383	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		62	12	1	0	7.91278e-47	1	8.86231e-47	62	12				
ARID4B	51742	broad.mit.edu	37	1	235338686	235338686	+	Silent	SNP	T	T	G	rs376544379		TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr1:235338686T>G	ENST00000264183.3	-	22	3974	c.3477A>C	c.(3475-3477)tcA>tcC	p.S1159S	ARID4B_ENST00000366603.2_Silent_p.S1159S|ARID4B_ENST00000494543.1_5'Flank|ARID4B_ENST00000349213.3_Silent_p.S1073S	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	1159					histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TTTCACCAGCTGAAAGTTCTT	0.353																																						ENST00000264183.3																			0				NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8						c.(3475-3477)tcA>tcC		AT rich interactive domain 4B (RBP1-like)							97.0	99.0	99.0					1																	235338686		2203	4300	6503	SO:0001819	synonymous_variant	51742				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding	g.chr1:235338686T>G	AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"""-"""	15550	protein-coding gene	gene with protein product		609696	"""retinoblastoma binding protein 1-like 1"", ""AT rich interactive domain 4B (RBP1- like)"""	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.3477A>C	1.37:g.235338686T>G						ARID4B_ENST00000349213.3_Silent_p.S1073S|ARID4B_ENST00000366603.2_Silent_p.S1159S	p.S1159S	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)		22	3974	-	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	1159					A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Silent	SNP	ENST00000264183.3	37	c.3477A>C	CCDS31061.1																																																																																				0.353	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095566.3	NM_016374		4	103	0	0	0	1	0	4	103				
ENPP7	339221	broad.mit.edu	37	17	77705082	77705082	+	Missense_Mutation	SNP	G	G	A	rs551732034		TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr17:77705082G>A	ENST00000328313.5	+	1	402	c.181G>A	c.(181-183)Ggg>Agg	p.G61R		NM_178543.3	NP_848638.3			ectonucleotide pyrophosphatase/phosphodiesterase 7											breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GGCCCGAGACGGGGTGAAGGC	0.647													G|||	1	0.000199681	0.0	0.0	5008	,	,		16426	0.001		0.0	False		,,,				2504	0.0					ENST00000328313.5																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34						c.(181-183)Ggg>Agg		ectonucleotide pyrophosphatase/phosphodiesterase 7							59.0	50.0	53.0					17																	77705082		2203	4300	6503	SO:0001583	missense	339221				negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity	g.chr17:77705082G>A	AY230663	CCDS11763.1	17q25.3	2014-04-09			ENSG00000182156	ENSG00000182156			23764	protein-coding gene	gene with protein product	"""alkaline sphingomyelinase"""					12885774	Standard	NM_178543		Approved	alk-SMase, NPP7	uc002jxa.3	Q6UWV6	OTTHUMG00000177462	ENST00000328313.5:c.181G>A	17.37:g.77705082G>A	ENSP00000332656:p.Gly61Arg						p.G61R	NM_178543.3	NP_848638.2	Q6UWV6	ENPP7_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		1	402	+			61						Missense_Mutation	SNP	ENST00000328313.5	37	c.181G>A	CCDS11763.1	.	.	.	.	.	.	.	.	.	.	G	19.80	3.895068	0.72639	.	.	ENSG00000182156	ENST00000328313	D	0.86366	-2.11	4.36	3.39	0.38822	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.95111	0.8416	H	0.96861	3.895	0.80722	D	1	D	0.71674	0.998	D	0.70016	0.967	D	0.95700	0.8748	10	0.87932	D	0	-44.2888	12.2432	0.54555	0.0846:0.0:0.9154:0.0	.	61	Q6UWV6	ENPP7_HUMAN	R	61	ENSP00000332656:G61R	ENSP00000332656:G61R	G	+	1	0	ENPP7	75319677	1.000000	0.71417	0.720000	0.30636	0.696000	0.40369	5.370000	0.66144	1.038000	0.40049	0.561000	0.74099	GGG		0.647	ENPP7-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437038.1	NM_178543		3	39	0	0	0	1	0	3	39				
SPTA1	6708	broad.mit.edu	37	1	158615323	158615323	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr1:158615323C>G	ENST00000368147.4	-	28	4138	c.3958G>C	c.(3958-3960)Gac>Cac	p.D1320H		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1320					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCAGTTAAGTCTTCGGCCAGC	0.418																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(3958-3960)Gac>Cac		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							159.0	157.0	158.0					1																	158615323		2022	4164	6186	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158615323C>G	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.3958G>C	1.37:g.158615323C>G	ENSP00000357129:p.Asp1320His					SPTA1_ENST00000368147.3_Missense_Mutation_p.D1320H	p.D1320H	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			28	4138	-	all_hematologic(112;0.0378)		1320					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.3958G>C	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.639255	0.87760	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.49432	0.78;0.78	5.07	5.07	0.68467	.	.	.	.	.	T	0.69006	0.3063	M	0.87900	2.915	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.74532	-0.3634	9	0.72032	D	0.01	.	17.2029	0.86910	0.0:1.0:0.0:0.0	.	1320	P02549	SPTA1_HUMAN	H	1320	ENSP00000357130:D1320H;ENSP00000357129:D1320H	ENSP00000357129:D1320H	D	-	1	0	SPTA1	156881947	1.000000	0.71417	0.951000	0.38953	0.984000	0.73092	6.910000	0.75741	2.635000	0.89317	0.655000	0.94253	GAC		0.418	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		9	157	0	0	0	1	0	9	157				
AHNAK2	113146	broad.mit.edu	37	14	105419663	105419663	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr14:105419663C>T	ENST00000333244.5	-	7	2244	c.2125G>A	c.(2125-2127)Gtg>Atg	p.V709M	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	709						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			AGGAGGCTCACGTCGGCCTCC	0.612																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(2125-2127)Gtg>Atg		AHNAK nucleoprotein 2							129.0	140.0	136.0					14																	105419663		1986	4161	6147	SO:0001583	missense	113146					nucleus		g.chr14:105419663C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.2125G>A	14.37:g.105419663C>T	ENSP00000353114:p.Val709Met					AHNAK2_ENST00000557457.1_Intron	p.V709M	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	2244	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	709					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.2125G>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	c	9.253	1.041148	0.19669	.	.	ENSG00000185567	ENST00000333244	T	0.01145	5.27	2.77	0.58	0.17402	.	.	.	.	.	T	0.01353	0.0044	M	0.79926	2.475	0.09310	N	1	P	0.48016	0.904	B	0.33454	0.164	T	0.46205	-0.9208	9	0.40728	T	0.16	-2.0318	0.9845	0.01443	0.1792:0.4124:0.1762:0.2323	.	709	Q8IVF2	AHNK2_HUMAN	M	709	ENSP00000353114:V709M	ENSP00000353114:V709M	V	-	1	0	AHNAK2	104490708	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.486000	0.06513	0.158000	0.19367	-0.264000	0.10439	GTG		0.612	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		5	182	0	0	0	1	0	5	182				
VANGL2	57216	broad.mit.edu	37	1	160385959	160385959	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr1:160385959G>A	ENST00000368061.2	+	3	653	c.179G>A	c.(178-180)cGa>cAa	p.R60Q		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	60					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|cell migration involved in kidney development (GO:0035787)|cochlea morphogenesis (GO:0090103)|convergent extension involved in axis elongation (GO:0060028)|convergent extension involved in neural plate elongation (GO:0022007)|digestive tract morphogenesis (GO:0048546)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity involved in neural tube closure (GO:0090177)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|glomerulus development (GO:0032835)|hair follicle development (GO:0001942)|heart looping (GO:0001947)|inner ear receptor stereocilium organization (GO:0060122)|kidney morphogenesis (GO:0060993)|lateral sprouting involved in lung morphogenesis (GO:0060490)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in axis elongation (GO:0003402)|planar cell polarity pathway involved in heart morphogenesis (GO:0061346)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|positive regulation of JUN kinase activity (GO:0043507)|post-anal tail morphogenesis (GO:0036342)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Wnt signaling pathway (GO:0030111)|Rho protein signal transduction (GO:0007266)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell pole (GO:0060187)|cell-cell junction (GO:0005911)|ER to Golgi transport vesicle (GO:0030134)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GAGTCCACACGAGGGGATGAG	0.657																																						ENST00000368061.2																			0				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37						c.(178-180)cGa>cAa		VANGL planar cell polarity protein 2							39.0	44.0	42.0					1																	160385959		2203	4300	6503	SO:0001583	missense	57216				apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane		g.chr1:160385959G>A	AB033041	CCDS30915.1	1q22-q23	2013-03-05	2013-03-05		ENSG00000162738	ENSG00000162738			15511	protein-coding gene	gene with protein product	"""vang, van gogh-like 2"", ""loop-tail-associated protein"", ""strabismus"""	600533	"""vang (van gogh, Drosophila)-like 2, vang, van gogh-like 2 (Drosophila)"", ""vang-like 2 (van gogh, Drosophila)"""			11431695	Standard	NM_020335		Approved	KIAA1215, LTAP, LPP1, STBM, STB1, STBM1, MGC119403, MGC119404	uc001fwc.2	Q9ULK5	OTTHUMG00000033122	ENST00000368061.2:c.179G>A	1.37:g.160385959G>A	ENSP00000357040:p.Arg60Gln						p.R60Q	NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		3	653	+	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		60					D3DVE9|Q5T212	Missense_Mutation	SNP	ENST00000368061.2	37	c.179G>A	CCDS30915.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.611233	0.87258	.	.	ENSG00000162738	ENST00000368061	T	0.80393	-1.37	4.55	4.55	0.56014	.	0.000000	0.64402	D	0.000002	D	0.82628	0.5078	M	0.73598	2.24	0.41364	D	0.987444	D	0.76494	0.999	P	0.59221	0.854	T	0.80346	-0.1421	10	0.22706	T	0.39	-6.0512	14.8376	0.70194	0.0:0.0:1.0:0.0	.	60	Q9ULK5	VANG2_HUMAN	Q	60	ENSP00000357040:R60Q	ENSP00000357040:R60Q	R	+	2	0	VANGL2	158652583	1.000000	0.71417	0.636000	0.29352	0.972000	0.66771	8.963000	0.93385	2.354000	0.79902	0.461000	0.40582	CGA		0.657	VANGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080677.1	NM_020335		29	68	0	0	0	1	0	29	68				
FBN2	2201	broad.mit.edu	37	5	127800512	127800512	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr5:127800512C>A	ENST00000508053.1	-	12	1705	c.731G>T	c.(730-732)gGa>gTa	p.G244V	FBN2_ENST00000508989.1_Missense_Mutation_p.G211V|FBN2_ENST00000262464.4_Missense_Mutation_p.G244V			P35556	FBN2_HUMAN	fibrillin 2	244	TB 1.				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)		CCACGCCCGTCCAATGGTGGC	0.602																																						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.(730-732)gGa>gTa		fibrillin 2							89.0	83.0	85.0					5																	127800512		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.chr5:127800512C>A	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.731G>T	5.37:g.127800512C>A	ENSP00000424571:p.Gly244Val					FBN2_ENST00000262464.4_Missense_Mutation_p.G244V|FBN2_ENST00000508989.1_Missense_Mutation_p.G211V	p.G244V			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)	12	1705	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	244			TB 1.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.731G>T	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.416887	0.83449	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989;ENST00000502468	D;D;D;D	0.96104	-3.91;-3.91;-3.91;-3.91	4.82	4.82	0.62117	Matrix fibril-associated (3);TGF-beta binding (1);	0.000000	0.64402	D	0.000003	D	0.97451	0.9166	M	0.72894	2.215	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.998;1.0;1.0	D	0.98068	1.0397	10	0.87932	D	0	.	18.7725	0.91898	0.0:1.0:0.0:0.0	.	211;244;211;244	P35556-2;E9PHW4;D6RJI3;P35556	.;.;.;FBN2_HUMAN	V	244;244;211;244	ENSP00000262464:G244V;ENSP00000424571:G244V;ENSP00000425596:G211V;ENSP00000424753:G244V	ENSP00000262464:G244V	G	-	2	0	FBN2	127828411	1.000000	0.71417	0.950000	0.38849	0.725000	0.41563	7.729000	0.84864	2.608000	0.88229	0.484000	0.47621	GGA		0.602	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		46	56	1	0	5.78141e-17	1	6.34822e-17	46	56				
PSD2	84249	broad.mit.edu	37	5	139193322	139193322	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr5:139193322A>C	ENST00000274710.3	+	3	1005	c.800A>C	c.(799-801)gAc>gCc	p.D267A		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	267	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGGACACGGACAAGTTGCTG	0.607																																						ENST00000274710.3																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38						c.(799-801)gAc>gCc		pleckstrin and Sec7 domain containing 2							22.0	19.0	20.0					5																	139193322		2151	4224	6375	SO:0001583	missense	84249				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr5:139193322A>C	AL136559	CCDS4216.1	5q31.3	2013-01-10			ENSG00000146005	ENSG00000146005		"""Pleckstrin homology (PH) domain containing"""	19092	protein-coding gene	gene with protein product							Standard	NM_032289		Approved	DKFZp761B0514	uc003leu.1	Q9BQI7	OTTHUMG00000129240	ENST00000274710.3:c.800A>C	5.37:g.139193322A>C	ENSP00000274710:p.Asp267Ala						p.D267A	NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	1005	+			267			SEC7.		D3DQD3|Q8N3J8	Missense_Mutation	SNP	ENST00000274710.3	37	c.800A>C	CCDS4216.1	.	.	.	.	.	.	.	.	.	.	A	10.17	1.277738	0.23307	.	.	ENSG00000146005	ENST00000274710	T	0.11604	2.76	4.61	3.4	0.38934	.	0.627974	0.16060	N	0.231511	T	0.07458	0.0188	L	0.36672	1.1	0.26997	N	0.964996	B	0.20368	0.044	B	0.21708	0.036	T	0.37641	-0.9697	10	0.05351	T	0.99	.	8.9106	0.35550	0.6303:0.3697:0.0:0.0	.	267	Q9BQI7	PSD2_HUMAN	A	267	ENSP00000274710:D267A	ENSP00000274710:D267A	D	+	2	0	PSD2	139173506	0.942000	0.31987	0.993000	0.49108	0.917000	0.54804	2.156000	0.42310	1.832000	0.53329	0.460000	0.39030	GAC		0.607	PSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251339.1	NM_032289		7	14	0	0	0	1	0	7	14				
XPC	7508	broad.mit.edu	37	3	14212034	14212034	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr3:14212034G>T	ENST00000285021.7	-	3	530	c.316C>A	c.(316-318)Ctc>Atc	p.L106I	XPC_ENST00000449060.2_Missense_Mutation_p.L106I	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	106	Glu-rich (acidic).				DNA repair (GO:0006281)|intra-S DNA damage checkpoint (GO:0031573)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to drug (GO:0042493)|response to UV-B (GO:0010224)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|XPC complex (GO:0071942)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|heteroduplex DNA loop binding (GO:0000404)|single-stranded DNA binding (GO:0003697)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GCCTTCTTGAGGTCACTTGGA	0.428			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000285021.7			yes	Rec		Xeroderma pigmentosum (C)	3	3p25	7508	"""Mis, N, F, S"""	"""xeroderma pigmentosum, complementation group C"""			E		"""skin basal cell, skin squamous cell, melanoma"""			0				NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(316-318)Ctc>Atc	Nucleotide excision repair (NER)	xeroderma pigmentosum, complementation group C							254.0	236.0	241.0					3																	14212034		1894	4124	6018	SO:0001583	missense	7508	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding	g.chr3:14212034G>T		CCDS46763.1	3p25.1	2014-09-17			ENSG00000154767	ENSG00000154767			12816	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group C protein"""	613208				1522891	Standard	NM_004628		Approved	XPCC, RAD4	uc011ave.2	Q01831	OTTHUMG00000155526	ENST00000285021.7:c.316C>A	3.37:g.14212034G>T	ENSP00000285021:p.Leu106Ile					XPC_ENST00000449060.2_Missense_Mutation_p.L106I	p.L106I	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN			3	530	-			106			Glu-rich (acidic).		B4DIP3|E9PB96|E9PH69|Q53GT7|Q96AX0	Missense_Mutation	SNP	ENST00000285021.7	37	c.316C>A	CCDS46763.1	.	.	.	.	.	.	.	.	.	.	G	13.30	2.196055	0.38806	.	.	ENSG00000154767	ENST00000285021;ENST00000449060;ENST00000511155	T;T;T	0.63096	-0.02;-0.02;-0.02	5.65	0.186	0.15105	.	2.004470	0.02006	N	0.046631	T	0.35740	0.0942	N	0.08118	0	0.09310	N	1	B;P	0.34462	0.148;0.454	B;B	0.22152	0.038;0.037	T	0.24297	-1.0164	10	0.20519	T	0.43	0.4934	5.1062	0.14785	0.36:0.1417:0.4983:0.0	.	106;106	E9PH69;Q01831	.;XPC_HUMAN	I	106;106;100	ENSP00000285021:L106I;ENSP00000404002:L106I;ENSP00000423867:L100I	ENSP00000285021:L106I	L	-	1	0	XPC	14187038	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.080000	0.11339	0.241000	0.21283	0.650000	0.86243	CTC		0.428	XPC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340517.3	NM_004628		6	130	1	0	0.000157383	1	0.00016949	6	130				
MUC16	94025	broad.mit.edu	37	19	9090433	9090433	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr19:9090433A>T	ENST00000397910.4	-	1	1585	c.1382T>A	c.(1381-1383)tTt>tAt	p.F461Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	461	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AAGAGTTGTAAAACCTAGAGT	0.498																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(1381-1383)tTt>tAt		mucin 16, cell surface associated							178.0	167.0	171.0					19																	9090433		1974	4153	6127	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9090433A>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.1382T>A	19.37:g.9090433A>T	ENSP00000381008:p.Phe461Tyr						p.F461Y	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	1585	-			461			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.1382T>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	a	5.025	0.190232	0.09547	.	.	ENSG00000181143	ENST00000397910	T	0.02606	4.23	1.54	1.54	0.23209	.	.	.	.	.	T	0.01523	0.0049	N	0.08118	0	.	.	.	P	0.50710	0.938	B	0.38156	0.266	T	0.45760	-0.9239	8	0.87932	D	0	.	5.1773	0.15141	1.0:0.0:0.0:0.0	.	461	B5ME49	.	Y	461	ENSP00000381008:F461Y	ENSP00000381008:F461Y	F	-	2	0	MUC16	8951433	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-0.842000	0.04354	0.963000	0.38082	0.260000	0.18958	TTT		0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		6	181	0	0	0	1	0	6	181				
SLC30A10	55532	broad.mit.edu	37	1	220091782	220091782	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr1:220091782G>A	ENST00000366926.3	-	3	934	c.773C>T	c.(772-774)aCg>aTg	p.T258M	SLC30A10_ENST00000484079.1_5'UTR|SLC30A10_ENST00000536446.1_Missense_Mutation_p.T13M	NM_018713.2	NP_061183.2	Q6XR72	ZNT10_HUMAN	solute carrier family 30, member 10	258					zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		TATGATGGCCGTGATGACCAC	0.512																																					Colon(76;360 1614 43677 51136)	ENST00000366926.3																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13						c.(772-774)aCg>aTg		solute carrier family 30, member 10							164.0	144.0	151.0					1																	220091782		2203	4300	6503	SO:0001583	missense	55532				zinc ion transport	integral to membrane|plasma membrane	cation transmembrane transporter activity	g.chr1:220091782G>A	AY212919	CCDS31026.1	1q41	2013-05-22			ENSG00000196660	ENSG00000196660		"""Solute carriers"""	25355	protein-coding gene	gene with protein product	"""zinc transporter 8"""	611146				15154973	Standard	NR_046437		Approved	DKFZp547M236, ZnT-10, ZRC1, ZNT8	uc001hlw.3	Q6XR72	OTTHUMG00000037434	ENST00000366926.3:c.773C>T	1.37:g.220091782G>A	ENSP00000355893:p.Thr258Met					SLC30A10_ENST00000536446.1_Missense_Mutation_p.T13M|SLC30A10_ENST00000484079.1_5'UTR	p.T258M	NM_018713.2	NP_061183.2	Q6XR72	ZNT10_HUMAN		GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)	3	934	-			258					Q49AL9|Q9NPW0	Missense_Mutation	SNP	ENST00000366926.3	37	c.773C>T	CCDS31026.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.344702	0.82022	.	.	ENSG00000196660	ENST00000366926;ENST00000536446	T;T	0.63580	-0.05;-0.05	6.02	6.02	0.97574	.	0.244211	0.42821	D	0.000642	T	0.80132	0.4567	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.65773	0.938	T	0.78645	-0.2123	9	.	.	.	-20.5412	20.5269	0.99230	0.0:0.0:1.0:0.0	.	258	Q6XR72	ZNT10_HUMAN	M	258;13	ENSP00000355893:T258M;ENSP00000439489:T13M	.	T	-	2	0	SLC30A10	218158405	1.000000	0.71417	0.969000	0.41365	0.981000	0.71138	6.125000	0.71627	2.859000	0.98148	0.591000	0.81541	ACG		0.512	SLC30A10-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357709.1	NM_018713		52	88	0	0	0	1	0	52	88				
PIKFYVE	200576	broad.mit.edu	37	2	209204774	209204774	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr2:209204774A>C	ENST00000264380.4	+	31	5008	c.4850A>C	c.(4849-4851)cAa>cCa	p.Q1617P		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1617					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						ACAGACAGCCAAGTGAAGGAA	0.328																																						ENST00000264380.4																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						c.(4849-4851)cAa>cCa		phosphoinositide kinase, FYVE finger containing							112.0	116.0	115.0					2																	209204774		2203	4300	6503	SO:0001583	missense	200576				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	g.chr2:209204774A>C	AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.4850A>C	2.37:g.209204774A>C	ENSP00000264380:p.Gln1617Pro						p.Q1617P	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN			31	5008	+			1617					Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	37	c.4850A>C	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	A	18.23	3.578675	0.65878	.	.	ENSG00000115020	ENST00000264380	T	0.32272	1.46	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.41627	0.1167	L	0.27053	0.805	0.80722	D	1	D	0.67145	0.996	D	0.72982	0.979	T	0.17561	-1.0365	10	0.28530	T	0.3	-13.3148	15.6556	0.77133	1.0:0.0:0.0:0.0	.	1617	Q9Y2I7	FYV1_HUMAN	P	1617	ENSP00000264380:Q1617P	ENSP00000264380:Q1617P	Q	+	2	0	PIKFYVE	208913019	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	8.962000	0.93254	2.099000	0.63709	0.455000	0.32223	CAA		0.328	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040		59	59	0	0	0	1	0	59	59				
UBR4	23352	broad.mit.edu	37	1	19499502	19499502	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr1:19499502G>A	ENST00000375254.3	-	25	3404	c.3377C>T	c.(3376-3378)gCc>gTc	p.A1126V	UBR4_ENST00000375226.2_Missense_Mutation_p.A1126V|UBR4_ENST00000375217.2_Missense_Mutation_p.A1126V|UBR4_ENST00000375267.2_Missense_Mutation_p.A1126V	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1126					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TGAGATCGCGGCATCAAGGGT	0.443																																						ENST00000375267.2																			0				breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.(3376-3378)gCc>gTc		ubiquitin protein ligase E3 component n-recognin 4							86.0	78.0	81.0					1																	19499502		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19499502G>A	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.3377C>T	1.37:g.19499502G>A	ENSP00000364403:p.Ala1126Val					UBR4_ENST00000375217.2_Missense_Mutation_p.A1126V|UBR4_ENST00000375226.2_Missense_Mutation_p.A1126V|UBR4_ENST00000375254.3_Missense_Mutation_p.A1126V	p.A1126V			Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	25	3380	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	1126					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.3377C>T	CCDS189.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.943880	0.92593	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000419533	T;T;T;T	0.55413	0.52;0.52;0.52;0.52	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.65565	0.2703	L	0.38175	1.15	0.80722	D	1	D	0.63880	0.993	D	0.68192	0.956	T	0.66582	-0.5887	10	0.72032	D	0.01	.	19.5476	0.95305	0.0:0.0:1.0:0.0	.	1126	Q5T4S7	UBR4_HUMAN	V	1126;1126;1126;1126;342	ENSP00000364403:A1126V;ENSP00000364416:A1126V;ENSP00000364365:A1126V;ENSP00000364374:A1126V	ENSP00000364365:A1126V	A	-	2	0	UBR4	19372089	1.000000	0.71417	0.807000	0.32361	0.964000	0.63967	9.476000	0.97823	2.719000	0.93026	0.655000	0.94253	GCC		0.443	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		3	45	0	0	0	1	0	3	45				
GTDC1	79712	broad.mit.edu	37	2	144714783	144714783	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr2:144714783T>A	ENST00000392869.2	-	8	1261	c.1109A>T	c.(1108-1110)cAt>cTt	p.H370L	GTDC1_ENST00000344850.4_Missense_Mutation_p.H370L|AC016910.1_ENST00000422799.1_RNA|GTDC1_ENST00000463875.2_Missense_Mutation_p.H241L|GTDC1_ENST00000409298.1_Missense_Mutation_p.H252L|GTDC1_ENST00000542155.1_Missense_Mutation_p.H370L|GTDC1_ENST00000409214.1_Missense_Mutation_p.H370L|GTDC1_ENST00000392867.3_Intron|GTDC1_ENST00000241391.5_Intron	NM_001284234.1	NP_001271163.1	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	370					biosynthetic process (GO:0009058)		transferase activity, transferring glycosyl groups (GO:0016757)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		AAAGAATTCATGCTTAGCTGT	0.388																																						ENST00000409214.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25						c.(1108-1110)cAt>cTt		glycosyltransferase-like domain containing 1							124.0	113.0	117.0					2																	144714783		2203	4300	6503	SO:0001583	missense	79712				biosynthetic process		transferase activity, transferring glycosyl groups	g.chr2:144714783T>A	AY281366	CCDS2185.1, CCDS33300.1, CCDS63029.1, CCDS74582.1, CCDS74583.1	2q22.3	2013-02-22			ENSG00000121964	ENSG00000121964		"""Glycosyltransferase group 1 domain containing"""	20887	protein-coding gene	gene with protein product	"""mannosyltransferase-like"""	610165				15068588, 21821951	Standard	NM_024659		Approved	FLJ11753, Hmat-Xa	uc010fnn.3	Q4AE62	OTTHUMG00000131835	ENST00000392869.2:c.1109A>T	2.37:g.144714783T>A	ENSP00000376608:p.His370Leu					AC016910.1_ENST00000422799.1_RNA|GTDC1_ENST00000241391.5_Intron|GTDC1_ENST00000409298.1_Missense_Mutation_p.H252L|GTDC1_ENST00000392867.3_Intron|GTDC1_ENST00000344850.4_Missense_Mutation_p.H370L|GTDC1_ENST00000392869.1_Missense_Mutation_p.H370L|GTDC1_ENST00000542155.1_Missense_Mutation_p.H370L|GTDC1_ENST00000463875.2_Missense_Mutation_p.H241L	p.H370L	NM_001006636.3	NP_001006637.1	Q4AE62	GTDC1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0914)	9	1387	-			370					A8K5P2|D3DP81|Q53SM7|Q53TC5|Q6P7E7|Q6PJB6|Q6WKW6|Q9HAE5	Missense_Mutation	SNP	ENST00000392869.2	37	c.1109A>T	CCDS33300.1	.	.	.	.	.	.	.	.	.	.	T	19.62	3.860953	0.71949	.	.	ENSG00000121964	ENST00000392869;ENST00000409214;ENST00000409298;ENST00000542155;ENST00000344850;ENST00000463875	T;T;T;T;T;T	0.79033	-0.92;-0.92;-1.23;-0.92;-0.92;-0.92	5.93	5.93	0.95920	Glycosyl transferase, family 1 (1);	0.000000	0.85682	D	0.000000	D	0.90270	0.6957	M	0.90425	3.115	0.80722	D	1	D;D;D	0.89917	1.0;0.997;1.0	D;D;D	0.91635	0.998;0.995;0.999	D	0.91919	0.5546	10	0.66056	D	0.02	-3.5174	16.3943	0.83563	0.0:0.0:0.0:1.0	.	370;252;370	G1UFN1;B8ZZ45;Q4AE62	.;.;GTDC1_HUMAN	L	370;370;252;370;370;241	ENSP00000376608:H370L;ENSP00000386581:H370L;ENSP00000386691:H252L;ENSP00000438323:H370L;ENSP00000339750:H370L;ENSP00000437964:H241L	ENSP00000339750:H370L	H	-	2	0	GTDC1	144431253	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.545000	0.82128	2.281000	0.76405	0.533000	0.62120	CAT		0.388	GTDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254779.2	NM_024659		21	40	0	0	0	1	0	21	40				
TSTD2	158427	broad.mit.edu	37	9	100388075	100388075	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr9:100388075T>C	ENST00000341170.4	-	3	752	c.370A>G	c.(370-372)Agt>Ggt	p.S124G	TSTD2_ENST00000354801.2_5'UTR	NM_139246.4	NP_640339.4	Q5T7W7	TSTD2_HUMAN	thiosulfate sulfurtransferase (rhodanese)-like domain containing 2	124										large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						GACGAAAGACTCTTTGAGGTG	0.438																																						ENST00000341170.4																			0				large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						c.(370-372)Agt>Ggt		thiosulfate sulfurtransferase (rhodanese)-like domain containing 2							164.0	161.0	162.0					9																	100388075		2203	4300	6503	SO:0001583	missense	158427							g.chr9:100388075T>C	AF258575	CCDS6727.2	9q22.33	2013-09-20	2009-08-12	2009-08-12	ENSG00000136925	ENSG00000136925			30087	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 97"""	C9orf97		12477932	Standard	NM_139246		Approved	PP4189	uc004axn.3	Q5T7W7	OTTHUMG00000020328	ENST00000341170.4:c.370A>G	9.37:g.100388075T>C	ENSP00000342499:p.Ser124Gly					TSTD2_ENST00000375165.1_5'UTR|TSTD2_ENST00000354801.2_5'UTR|TSTD2_ENST00000375172.2_5'UTR	p.S124G	NM_139246.4	NP_640339.4	Q5T7W7	TSTD2_HUMAN			3	752	-			124					A6NMJ4|A8K584|Q6ZQZ6|Q8IYM3|Q8WY73|Q96ML6|Q96MU1	Missense_Mutation	SNP	ENST00000341170.4	37	c.370A>G	CCDS6727.2	.	.	.	.	.	.	.	.	.	.	T	14.79	2.639869	0.47153	.	.	ENSG00000136925	ENST00000341170	T	0.32753	1.44	4.82	2.34	0.29019	.	0.636171	0.16823	N	0.198078	T	0.27798	0.0684	L	0.57536	1.79	0.24756	N	0.992957	B	0.06786	0.001	B	0.04013	0.001	T	0.19386	-1.0307	10	0.28530	T	0.3	-1.0552	9.8635	0.41129	0.0:0.1205:0.0:0.8795	.	124	Q5T7W7	TSTD2_HUMAN	G	124	ENSP00000342499:S124G	ENSP00000342499:S124G	S	-	1	0	TSTD2	99427896	0.000000	0.05858	0.044000	0.18714	0.529000	0.34654	0.096000	0.15147	0.398000	0.25338	0.533000	0.62120	AGT		0.438	TSTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053325.4	NM_139246		53	69	0	0	0	1	0	53	69				
GOLGA6L17P	642402	broad.mit.edu	37	15	85053219	85053219	+	RNA	SNP	C	C	T			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr15:85053219C>T	ENST00000414190.2	-	0	233					NR_003246.2																						TGCAGCCTCTCCTGCTCCTCC	0.522																																						ENST00000414190.2																			0																																																			0							g.chr15:85053219C>T																													15.37:g.85053219C>T								NR_003246.2						0	233	-									RNA	SNP	ENST00000414190.2	37																																																																																						0.522	GOLGA6L5-003	KNOWN	mRNA_end_NF|basic	processed_transcript	pseudogene	OTTHUMT00000418579.1			3	3	0	0	0	1	0	3	3				
ACVR1B	91	broad.mit.edu	37	12	52379005	52379005	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr12:52379005A>G	ENST00000257963.4	+	6	1086	c.1009A>G	c.(1009-1011)Aag>Gag	p.K337E	ACVR1B_ENST00000541224.1_Missense_Mutation_p.K378E|RNU6-574P_ENST00000384265.1_RNA|ACVR1B_ENST00000426655.2_Missense_Mutation_p.K337E|ACVR1B_ENST00000563121.1_3'UTR|ACVR1B_ENST00000542485.1_Missense_Mutation_p.K285E|ACVR1B_ENST00000415850.2_Missense_Mutation_p.K337E	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	337	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|central nervous system development (GO:0007417)|development of primary female sexual characteristics (GO:0046545)|extrinsic apoptotic signaling pathway (GO:0097191)|G1/S transition of mitotic cell cycle (GO:0000082)|hair follicle development (GO:0001942)|in utero embryonic development (GO:0001701)|negative regulation of cell growth (GO:0030308)|nodal signaling pathway (GO:0038092)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of trophoblast cell migration (GO:1901165)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|inhibin binding (GO:0034711)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	TCGAGACTTAAAGTCAAAGAA	0.438																																						ENST00000257963.4																			0				breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44						c.(1009-1011)Aag>Gag		activin A receptor, type IB	Adenosine triphosphate(DB00171)						87.0	83.0	84.0					12																	52379005		2203	4300	6503	SO:0001583	missense	91				G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding	g.chr12:52379005A>G		CCDS8816.1, CCDS44893.1, CCDS44894.1, CCDS44893.2, CCDS44894.2	12q13	2006-11-09			ENSG00000135503	ENSG00000135503			172	protein-coding gene	gene with protein product		601300		ACVRLK4		8397373	Standard	NM_020327		Approved	ALK4, SKR2, ActRIB	uc010snn.2	P36896	OTTHUMG00000167920	ENST00000257963.4:c.1009A>G	12.37:g.52379005A>G	ENSP00000257963:p.Lys337Glu					ACVR1B_ENST00000415850.2_Missense_Mutation_p.K337E|ACVR1B_ENST00000563121.1_3'UTR|ACVR1B_ENST00000542485.1_Missense_Mutation_p.K285E|ACVR1B_ENST00000541224.1_Missense_Mutation_p.K378E|ACVR1B_ENST00000426655.2_Missense_Mutation_p.K337E	p.K337E	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.104)	6	1086	+			337			Protein kinase.		B7Z5L8|B7Z5W5|Q15479|Q15480|Q15481|Q15482	Missense_Mutation	SNP	ENST00000257963.4	37	c.1009A>G	CCDS8816.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.419235	0.83559	.	.	ENSG00000135503	ENST00000257963;ENST00000541224;ENST00000426655;ENST00000415850;ENST00000542485	D;D;D;D;D	0.91068	-2.78;-2.78;-2.78;-2.78;-2.78	4.76	3.6	0.41247	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.97034	0.9031	H	0.98883	4.36	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;0.997;0.999;1.0	D	0.96823	0.9605	10	0.87932	D	0	.	11.1309	0.48347	0.8617:0.0:0.0:0.1383	.	378;337;337;337	P36896-4;P36896;P36896-2;P36896-3	.;ACV1B_HUMAN;.;.	E	337;378;337;337;285	ENSP00000257963:K337E;ENSP00000442656:K378E;ENSP00000390477:K337E;ENSP00000397550:K337E;ENSP00000442885:K285E	ENSP00000257963:K337E	K	+	1	0	ACVR1B	50665272	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	9.139000	0.94554	0.939000	0.37446	0.460000	0.39030	AAG		0.438	ACVR1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397000.1	NM_020328		18	29	0	0	0	1	0	18	29				
ZNF709	163051	broad.mit.edu	37	19	12575993	12575993	+	Missense_Mutation	SNP	C	C	T	rs375309574		TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr19:12575993C>T	ENST00000397732.3	-	4	914	c.743G>A	c.(742-744)gGa>gAa	p.G248E	ZNF709_ENST00000428311.1_Missense_Mutation_p.G248E|CTD-3105H18.18_ENST00000598753.1_Intron	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	248					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|upper_aerodigestive_tract(3)	6						GGGTTTCTCTCCAGAGTGAGT	0.388																																					GBM(33;565 669 12371 29134 51667)	ENST00000397732.3																			0				large_intestine(3)|upper_aerodigestive_tract(3)	6						c.(742-744)gGa>gAa		zinc finger protein 709							69.0	72.0	71.0					19																	12575993		2173	4291	6464	SO:0001583	missense	163051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12575993C>T	AK095600	CCDS42504.1	19p13.2	2013-01-08			ENSG00000242852	ENSG00000242852		"""Zinc fingers, C2H2-type"", ""-"""	20629	protein-coding gene	gene with protein product							Standard	NM_152601		Approved	FLJ38281	uc002mtv.4	Q8N972	OTTHUMG00000156406	ENST00000397732.3:c.743G>A	19.37:g.12575993C>T	ENSP00000380840:p.Gly248Glu					CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Missense_Mutation_p.G248E	p.G248E	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN			4	914	-			248					A8K4E6	Missense_Mutation	SNP	ENST00000397732.3	37	c.743G>A	CCDS42504.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.369740	0.82573	.	.	ENSG00000242852;ENSG00000196826	ENST00000397732;ENST00000428311	T;T	0.25749	1.78;1.78	2.8	1.76	0.24704	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.287879	0.19503	N	0.112685	T	0.37625	0.1010	L	0.47716	1.5	0.38438	D	0.946638	D	0.71674	0.998	D	0.65987	0.94	T	0.30851	-0.9964	10	0.72032	D	0.01	.	9.2975	0.37824	0.0:0.8816:0.0:0.1184	.	248	Q8N972	ZN709_HUMAN	E	248	ENSP00000380840:G248E;ENSP00000404127:G248E	ENSP00000404127:G248E	G	-	2	0	ZNF709;CTD-2192J16.17	12436993	0.001000	0.12720	0.939000	0.37840	0.815000	0.46073	0.047000	0.14056	0.765000	0.33221	0.467000	0.42956	GGA		0.388	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	NM_152601		4	53	0	0	0	1	0	4	53				
CERK	64781	broad.mit.edu	37	22	47095356	47095356	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr22:47095356G>A	ENST00000216264.8	-	8	909	c.797C>T	c.(796-798)tCg>tTg	p.S266L	CERK_ENST00000541677.1_Missense_Mutation_p.S68L	NM_022766.5	NP_073603.2	Q8TCT0	CERK1_HUMAN	ceramide kinase	266	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|lipid phosphorylation (GO:0046834)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ceramide kinase activity (GO:0001729)|diacylglycerol kinase activity (GO:0004143)|magnesium ion binding (GO:0000287)|NAD+ kinase activity (GO:0003951)			cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CATGGCCAGCGAGTCCCCTGT	0.617																																						ENST00000216264.8																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20						c.(796-798)tCg>tTg		ceramide kinase							160.0	115.0	130.0					22																	47095356		2203	4300	6503	SO:0001583	missense	64781				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|ceramide metabolic process	integral to membrane of membrane fraction|membrane|nucleus	ATP binding|ceramide kinase activity|diacylglycerol kinase activity|magnesium ion binding	g.chr22:47095356G>A	AB079066	CCDS14077.1	22q13.31	2008-06-10			ENSG00000100422	ENSG00000100422			19256	protein-coding gene	gene with protein product		610307				11956206, 11258795	Standard	NM_022766		Approved	hCERK, FLJ23239, dA59H18.3, DKFZp434E0211, FLJ21430, KIAA1646, LK4, dA59H18.2	uc003bia.3	Q8TCT0	OTTHUMG00000150395	ENST00000216264.8:c.797C>T	22.37:g.47095356G>A	ENSP00000216264:p.Ser266Leu					CERK_ENST00000541677.1_Missense_Mutation_p.S68L	p.S266L	NM_022766.5	NP_073603.2	Q8TCT0	CERK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)	8	909	-		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)	266			DAGKc.		A0JNT4|A8K611|Q6NX59|Q9BYB3|Q9UGE5	Missense_Mutation	SNP	ENST00000216264.8	37	c.797C>T	CCDS14077.1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.225856	0.58668	.	.	ENSG00000100422	ENST00000216264;ENST00000541677	T;T	0.13089	2.62;2.62	4.96	4.96	0.65561	Diacylglycerol kinase, catalytic domain (3);	0.128416	0.53938	D	0.000052	T	0.15219	0.0367	L	0.55017	1.72	0.58432	D	0.999997	P	0.43412	0.806	B	0.43889	0.435	T	0.04294	-1.0962	10	0.09843	T	0.71	-16.039	12.1775	0.54194	0.0:0.2871:0.7129:0.0	.	266	Q8TCT0	CERK1_HUMAN	L	266;68	ENSP00000216264:S266L;ENSP00000438659:S68L	ENSP00000216264:S266L	S	-	2	0	CERK	45474020	1.000000	0.71417	0.999000	0.59377	0.303000	0.27691	5.475000	0.66787	2.301000	0.77427	0.563000	0.77884	TCG		0.617	CERK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317924.2	NM_022766		46	98	0	0	0	1	0	46	98				
BRWD1	54014	broad.mit.edu	37	21	40668227	40668227	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr21:40668227C>T	ENST00000333229.2	-	6	739	c.412G>A	c.(412-414)Gaa>Aaa	p.E138K	BRWD1_ENST00000342449.3_Missense_Mutation_p.E138K|BRWD1_ENST00000470108.1_5'Flank|BRWD1_ENST00000380800.3_Missense_Mutation_p.E138K	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	138					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				ACTGGCATTTCAGGAGGTCTT	0.378																																					Melanoma(170;988 1986 4794 16843 39731)	ENST00000342449.3																			0				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58						c.(412-414)Gaa>Aaa		bromodomain and WD repeat domain containing 1							128.0	134.0	132.0					21																	40668227		2203	4300	6503	SO:0001583	missense	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40668227C>T	AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.412G>A	21.37:g.40668227C>T	ENSP00000330753:p.Glu138Lys					BRWD1_ENST00000333229.2_Missense_Mutation_p.E138K|BRWD1_ENST00000380800.3_Missense_Mutation_p.E138K	p.E138K	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN			6	490	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	138					C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	c.412G>A	CCDS13662.1	.	.	.	.	.	.	.	.	.	.	C	32	5.130995	0.94473	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800	T;T;T	0.28895	1.59;1.59;1.59	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.62600	0.2441	M	0.83012	2.62	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.83275	0.987;0.996	T	0.64089	-0.6489	10	0.62326	D	0.03	-16.78	20.3736	0.98901	0.0:1.0:0.0:0.0	.	138;138	Q9NSI6-2;Q9NSI6	.;BRWD1_HUMAN	K	138	ENSP00000330753:E138K;ENSP00000344333:E138K;ENSP00000370178:E138K	ENSP00000330753:E138K	E	-	1	0	BRWD1	39590097	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.364000	0.79526	2.820000	0.97059	0.650000	0.86243	GAA		0.378	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		54	31	0	0	0	1	0	54	31				
RIMBP3	85376	broad.mit.edu	37	22	20457106	20457106	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr22:20457106C>T	ENST00000426804.1	-	1	4680	c.4196G>A	c.(4195-4197)aGg>aAg	p.R1399K	SCARNA17_ENST00000516762.1_RNA|RN7SKP131_ENST00000363006.1_RNA|SCARNA18_ENST00000516215.1_RNA	NM_015672.1	NP_056487.1	Q9UFD9	RIM3A_HUMAN	RIMS binding protein 3	1399										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			AGGCTCCCTCCTCTCCTCTCG	0.607																																						ENST00000426804.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13						c.(4195-4197)aGg>aAg		RIMS binding protein 3							60.0	71.0	67.0					22																	20457106		1973	4181	6154	SO:0001583	missense	85376							g.chr22:20457106C>T	AB051453	CCDS46665.1	22q11.21	2014-05-06			ENSG00000196622	ENSG00000275793			29344	protein-coding gene	gene with protein product		612699				11258795, 17855024	Standard	NM_015672		Approved	KIAA1666, RIMBP3.1, RIMBP3A	uc002zsd.4	Q9UFD9	OTTHUMG00000188355	ENST00000426804.1:c.4196G>A	22.37:g.20457106C>T	ENSP00000391564:p.Arg1399Lys						p.R1399K	NM_015672.1	NP_056487.1			LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)		1	4680	-	Colorectal(54;0.0993)|Melanoma(16;0.165)							Q8IYP7|Q9BY94|Q9UFQ5	Missense_Mutation	SNP	ENST00000426804.1	37	c.4196G>A	CCDS46665.1	.	.	.	.	.	.	.	.	.	.	C	8.325	0.825215	0.16749	.	.	ENSG00000196622	ENST00000355186;ENST00000426804	T	0.17528	2.27	3.58	1.47	0.22746	.	1.879570	0.02516	N	0.092068	T	0.09949	0.0244	N	0.14661	0.345	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.26815	-1.0092	10	0.10377	T	0.69	-4.0304	5.3393	0.15974	0.0:0.7331:0.0:0.2669	.	1305	Q9UFD9	RIM3A_HUMAN	K	1305;1399	ENSP00000391564:R1399K	ENSP00000347318:R1305K	R	-	2	0	RIMBP3	18837106	0.000000	0.05858	0.008000	0.14137	0.043000	0.13939	-0.517000	0.06275	0.860000	0.35481	0.423000	0.28283	AGG		0.607	RIMBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318945.2	NM_015672		13	78	0	0	0	1	0	13	78				
IGKV1-12	28940	broad.mit.edu	37	2	89340106	89340107	+	RNA	INS	-	-	G	rs556239742	byFrequency	TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr2:89340106_89340107insG	ENST00000480492.1	-	0	102									immunoglobulin kappa variable 1-12																		CTCAGCACACTGACCGAGTATA	0.475													|||unknown(ALL_OTHER_Ns)	976	0.194888	0.4009	0.1326	5008	,	,		16218	0.0823		0.1541	False		,,,				2504	0.1186					ENST00000480492.1																			0																																																			0							g.chr2:89340106_89340107insG	V01577		2p11.2	2012-02-10			ENSG00000243290	ENSG00000243290		"""Immunoglobulins / IGK locus"""	5730	other	immunoglobulin gene							Standard	NG_000834		Approved	IGKV112, L19	uc011agg.1		OTTHUMG00000151643		2.37:g.89340107_89340107dupG														0	102	-									RNA	INS	ENST00000480492.1	37																																																																																						0.475	IGKV1-12-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323392.1	NG_000834		7	16						7	16	---	---	---	---
UTP3	57050	broad.mit.edu	37	4	71554620	71554622	+	In_Frame_Del	DEL	GAG	GAG	-	rs369776055		TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr4:71554620_71554622delGAG	ENST00000254803.2	+	1	425_427	c.226_228delGAG	c.(226-228)gagdel	p.E81del		NM_020368.2	NP_065101.1	Q9NQZ2	SAS10_HUMAN	UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae)	81	Glu-rich.				brain development (GO:0007420)|chromatin modification (GO:0016568)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4)	18			Lung(101;0.235)			ggaggatggcgaggaggaggagg	0.567																																						ENST00000254803.2																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4)	18						c.(226-228)del		UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae)																																				SO:0001651	inframe_deletion	57050				brain development|chromatin modification|gene silencing	nucleolus		g.chr4:71554620_71554622delGAG	AL136590	CCDS3546.1	4q13.3	2008-02-05			ENSG00000132467	ENSG00000132467			24477	protein-coding gene	gene with protein product	"""disrupter of silencing 10"""	611614				12477932	Standard	NM_020368		Approved	FLJ23256, DKFZp761F222, SAS10, CRLZ1	uc003hfo.3	Q9NQZ2	OTTHUMG00000129911	ENST00000254803.2:c.226_228delGAG	4.37:g.71554629_71554631delGAG	ENSP00000254803:p.Glu81del						p.E81del	NM_020368.2	NP_065101.1	Q9NQZ2	SAS10_HUMAN	Lung(101;0.235)		1	425_427	+			81			Glu-rich.		Q6FI82	In_Frame_Del	DEL	ENST00000254803.2	37	c.226_228delGAG	CCDS3546.1																																																																																				0.567	UTP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252163.2	NM_020368		7	52						7	52	---	---	---	---
SLC12A2	6558	broad.mit.edu	37	5	127419938	127419955	+	In_Frame_Del	DEL	GCGGCGGCGGCGGCGGCA	GCGGCGGCGGCGGCGGCA	-	rs181849063|rs560532409	byFrequency	TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr5:127419938_127419955delGCGGCGGCGGCGGCGGCA	ENST00000262461.2	+	1	481_498	c.292_309delGCGGCGGCGGCGGCGGCA	c.(292-309)gcggcggcggcggcggcadel	p.AAAAAA98del	CTC-228N24.3_ENST00000501702.2_lincRNA|SLC12A2_ENST00000343225.4_In_Frame_Del_p.AAAAAA98del	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	98	Ala-rich.				ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|branching involved in mammary gland duct morphogenesis (GO:0060444)|chloride transmembrane transport (GO:1902476)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|gamma-aminobutyric acid signaling pathway (GO:0007214)|hyperosmotic response (GO:0006972)|ion transport (GO:0006811)|mammary duct terminal end bud growth (GO:0060763)|multicellular organism growth (GO:0035264)|positive regulation of cell volume (GO:0045795)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transepithelial ammonium transport (GO:0070634)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ammonium transmembrane transporter activity (GO:0008519)|sodium:potassium:chloride symporter activity (GO:0008511)			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)|Quinethazone(DB01325)	TGCTgcggcggcggcggcggcggcggcagcggcggcgg	0.771																																						ENST00000262461.2																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(292-309)del		solute carrier family 12 (sodium/potassium/chloride transporter), member 2	Bumetanide(DB00887)|Potassium Chloride(DB00761)			17,429		8,1,214						1.7	0.7			1	60,1308		28,4,652	no	coding	SLC12A2	NM_001046.2		36,5,866	A1A1,A1R,RR		4.386,3.8117,4.2448				77,1737				SO:0001651	inframe_deletion	6558				potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity	g.chr5:127419938_127419955delGCGGCGGCGGCGGCGGCA		CCDS4144.1, CCDS58965.1	5q23.3	2014-06-13	2013-07-18		ENSG00000064651	ENSG00000064651		"""Solute carriers"""	10911	protein-coding gene	gene with protein product	"""bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1"", ""basolateral Na-K-Cl symporter"", ""protein phosphatase 1, regulatory subunit 141"""	600840				7629105	Standard	NM_001256461		Approved	NKCC1, BSC, BSC2, PPP1R141	uc003kus.3	P55011	OTTHUMG00000128983	ENST00000262461.2:c.292_309delGCGGCGGCGGCGGCGGCA	5.37:g.127419938_127419955delGCGGCGGCGGCGGCGGCA	ENSP00000262461:p.Ala98_Ala103del					SLC12A2_ENST00000343225.4_In_Frame_Del_p.AAAAAA98del	p.AAAAAA98del	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	1	481_498	+		all_cancers(142;0.0972)|Prostate(80;0.151)	98			Ala-rich.		Q8N713|Q8WWH7	In_Frame_Del	DEL	ENST00000262461.2	37	c.292_309delGCGGCGGCGGCGGCGGCA	CCDS4144.1																																																																																				0.771	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250972.1	NM_001046		8	3						8	3	---	---	---	---
FOLH1B	219595	broad.mit.edu	37	11	89407165	89407165	+	RNA	DEL	T	T	-	rs112016970		TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr11:89407165delT	ENST00000532352.1	+	0	1114							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						CATCAATGACTTTTTTTTTTT	0.303																																						ENST00000532352.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48								folate hydrolase 1B																																						219595				proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:89407165delT	AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"""prostate specific membrane antigen like protein"", ""Cell growth-inhibiting gene 26 protein"", ""glutamate carboxypeptidase III"""	609020	"""folate hydrolase 2"""	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89407165delT										Q9HBA9	FOH1B_HUMAN			0	1114	+									RNA	DEL	ENST00000532352.1	37																																																																																						0.303	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	NM_153696		3	5						3	5	---	---	---	---
CNOT1	23019	broad.mit.edu	37	16	58559108	58559109	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr16:58559108_58559109insT	ENST00000317147.5	-	46	7090_7091	c.6758_6759insA	c.(6757-6759)aatfs	p.N2253fs	CNOT1_ENST00000569240.1_Frame_Shift_Ins_p.N2248fs|CNOT1_ENST00000245138.4_Frame_Shift_Ins_p.N1104fs	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	2253					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CCACAGCCAAATTCTGGAAGAT	0.47																																						ENST00000317147.5																			0				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87						c.(6757-6759)attfs		CCR4-NOT transcription complex, subunit 1																																				SO:0001589	frameshift_variant	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58559108_58559109insT	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.6759dupA	16.37:g.58559110_58559110dupT	ENSP00000320949:p.Asn2253fs					CNOT1_ENST00000569240.1_Frame_Shift_Ins_p.I2248fs|CNOT1_ENST00000245138.4_Frame_Shift_Ins_p.I1104fs	p.I2253fs	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	46	7090_7091	-			2253					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Frame_Shift_Ins	INS	ENST00000317147.5	37	c.6758_6759insA	CCDS10799.1																																																																																				0.470	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		9	243						9	243	---	---	---	---
NCOR1	9611	broad.mit.edu	37	17	15968316	15968317	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr17:15968316_15968317insG	ENST00000268712.3	-	34	5225_5226	c.4968_4969insC	c.(4966-4971)accaatfs	p.N1657fs	NCOR1_ENST00000395857.3_Frame_Shift_Ins_p.N241fs|NCOR1_ENST00000395851.1_Frame_Shift_Ins_p.N1673fs	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1657	Interaction with C1D. {ECO:0000250}.|Interaction with ETO.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GGAGGCATATTGGTCAGGTCAA	0.396																																						ENST00000268712.3																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107						c.(4966-4971)acatatfs		nuclear receptor corepressor 1																																				SO:0001589	frameshift_variant	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:15968316_15968317insG	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.4969dupC	17.37:g.15968318_15968318dupG	ENSP00000268712:p.Asn1657fs					NCOR1_ENST00000395857.3_Frame_Shift_Ins_p.Y241fs|NCOR1_ENST00000395851.1_Frame_Shift_Ins_p.Y1673fs	p.Y1657fs	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	34	5225_5226	-			1657			Interaction with C1D (By similarity).|Interaction with ETO.		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Frame_Shift_Ins	INS	ENST00000268712.3	37	c.4968_4969insC	CCDS11175.1																																																																																				0.396	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		80	169						80	169	---	---	---	---
TRAPPC8	22878	broad.mit.edu	37	18	29523287	29523289	+	5'Flank	DEL	GGC	GGC	-			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr18:29523287_29523289delGGC	ENST00000283351.4	-	0	0				TRAPPC8_ENST00000582513.1_5'Flank|RP11-326K13.4_ENST00000580420.1_RNA|TRAPPC8_ENST00000584876.1_5'Flank|TRAPPC8_ENST00000582539.1_5'Flank	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8						vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						cgggggcgggggcgggggGAGGT	0.709																																						ENST00000580420.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr18:29523287_29523289delGGC	AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339		"""Trafficking protein particle complex"""	29169	protein-coding gene	gene with protein product	"""general sporulation gene 1 homolog (S. cerevisiae)"""	614136	"""KIAA1012"""	KIAA1012		10231032, 11230166	Standard	NM_014939		Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267		18.37:g.29523287_29523289delGGC	Exception_encountered													0	750_752	+								A0JP15|B3KME5|Q9H0L2	RNA	DEL	ENST00000283351.4	37		CCDS11901.1																																																																																				0.709	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255355.1	NM_014939		3	5						3	5	---	---	---	---
CTD-2382H12.2	0	broad.mit.edu	37	18	76672101	76672101	+	lincRNA	DEL	C	C	-			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr18:76672101delC	ENST00000578030.1	-	0	57																											ttagctcccaccccaggcctc	0.632																																						ENST00000578030.1																			0																																																			0							g.chr18:76672101delC																													18.37:g.76672101delC														0	57	-									RNA	DEL	ENST00000578030.1	37																																																																																						0.632	CTD-2382H12.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000446090.1			2	4						2	4	---	---	---	---
AC008132.13	0	broad.mit.edu	37	22	18842473	18842473	+	Intron	DEL	G	G	-	rs66480106	byFrequency	TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr22:18842473delG	ENST00000412938.1	+	4	2208																											AGCTGCTGGTGGGGAGGTCTT	0.647													?|GGGG|GGG|unsure	2225	0.444289	0.2716	0.4467	5008	,	,		25744	0.5079		0.5099	False		,,,				2504	0.5429					ENST00000412938.1																			0																																																	SO:0001627	intron_variant	0							g.chr22:18842473delG																												ENST00000412938.1:c.2209-830G>-	22.37:g.18842473delG														0	2208	+									RNA	DEL	ENST00000412938.1	37																																																																																						0.647	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			3	4						3	4	---	---	---	---
