#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
HMCN1	83872	broad.mit.edu	37	1	186135336	186135336	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6IF-01A-11D-A31L-08	TCGA-QK-A6IF-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80841ea-55be-4fc9-9353-604846afea4b	670a32a1-f498-40b8-96cc-ad24ebe37796	g.chr1:186135336G>A	ENST00000271588.4	+	99	15569	c.15340G>A	c.(15340-15342)Ggg>Agg	p.G5114R	HMCN1_ENST00000367492.2_Missense_Mutation_p.G5114R	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5114	EGF-like 1; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATGTGCAGCAGGGAATCCCTG	0.443																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(15340-15342)Ggg>Agg		hemicentin 1							84.0	73.0	76.0					1																	186135336		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186135336G>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.15340G>A	1.37:g.186135336G>A	ENSP00000271588:p.Gly5114Arg					HMCN1_ENST00000367492.2_Missense_Mutation_p.G5114R	p.G5114R	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			99	15569	+			5114			EGF-like 1; calcium-binding (Potential).		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.15340G>A	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	6.920	0.539444	0.13250	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	D;D	0.87103	-2.21;-2.21	5.44	3.56	0.40772	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.245658	0.42294	N	0.000734	T	0.81740	0.4886	L	0.48218	1.51	0.45272	D	0.998275	B	0.06786	0.001	B	0.06405	0.002	T	0.74500	-0.3645	10	0.37606	T	0.19	.	10.7253	0.46064	0.0:0.3916:0.5117:0.0968	.	5114	Q96RW7	HMCN1_HUMAN	R	5114	ENSP00000271588:G5114R;ENSP00000356462:G5114R	ENSP00000271588:G5114R	G	+	1	0	HMCN1	184401959	0.918000	0.31147	0.454000	0.27019	0.800000	0.45204	1.558000	0.36309	0.663000	0.31027	0.650000	0.86243	GGG		0.443	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		9	30	0	0	0	1	0	9	30				
POLD1	5424	broad.mit.edu	37	19	50905073	50905073	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6IF-01A-11D-A31L-08	TCGA-QK-A6IF-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80841ea-55be-4fc9-9353-604846afea4b	670a32a1-f498-40b8-96cc-ad24ebe37796	g.chr19:50905073C>T	ENST00000440232.2	+	4	408	c.355C>T	c.(355-357)Cgc>Tgc	p.R119C	POLD1_ENST00000595904.1_Missense_Mutation_p.R119C|POLD1_ENST00000599857.1_Missense_Mutation_p.R119C	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	119			R -> H (in dbSNP:rs1726801). {ECO:0000269|PubMed:1542570, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.3}.		base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|fatty acid homeostasis (GO:0055089)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)|response to UV (GO:0009411)|small molecule metabolic process (GO:0044281)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|delta DNA polymerase complex (GO:0043625)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		CCCACCATCCCGCGGCTCCGT	0.672								DNA polymerases (catalytic subunits)																														ENST00000440232.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(355-357)Cgc>Tgc	DNA polymerases (catalytic subunits)	polymerase (DNA directed), delta 1, catalytic subunit							36.0	40.0	38.0					19																	50905073		2202	4296	6498	SO:0001583	missense	5424				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding	g.chr19:50905073C>T		CCDS12795.1	19q13.3	2014-09-17	2012-05-18		ENSG00000062822	ENSG00000062822		"""DNA polymerases"""	9175	protein-coding gene	gene with protein product	"""CDC2 homolog (S. cerevisiae)"""	174761	"""polymerase (DNA directed), delta 1, catalytic subunit (125kD)"""	POLD		1722322	Standard	NM_001256849		Approved	CDC2	uc002psc.5	P28340		ENST00000440232.2:c.355C>T	19.37:g.50905073C>T	ENSP00000406046:p.Arg119Cys					POLD1_ENST00000599857.1_Missense_Mutation_p.R119C|POLD1_ENST00000595904.1_Missense_Mutation_p.R119C	p.R119C	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)	4	408	+		all_neural(266;0.0571)	119		R -> H (in dbSNP:rs1726801).			Q8NER3|Q96H98	Missense_Mutation	SNP	ENST00000440232.2	37	c.355C>T	CCDS12795.1	.	.	.	.	.	.	.	.	.	.	C	12.99	2.102459	0.37145	.	.	ENSG00000062822	ENST00000440232;ENST00000376930	T	0.22743	1.94	4.04	2.98	0.34508	Ribonuclease H-like (1);	1.185790	0.05994	N	0.646591	T	0.21509	0.0518	L	0.39898	1.24	0.24989	N	0.991544	B;B	0.09022	0.002;0.002	B;B	0.06405	0.002;0.0	T	0.30327	-0.9982	10	0.38643	T	0.18	-1.863	12.0485	0.53493	0.1747:0.8253:0.0:0.0	.	119;119	E7EVW0;P28340	.;DPOD1_HUMAN	C	119;120	ENSP00000406046:R119C	ENSP00000366129:R120C	R	+	1	0	POLD1	55596885	0.000000	0.05858	0.011000	0.14972	0.005000	0.04900	0.240000	0.18042	0.800000	0.34041	0.455000	0.32223	CGC		0.672	POLD1-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464732.1			27	61	0	0	0	1	0	27	61				
NECAB1	64168	broad.mit.edu	37	8	91963412	91963412	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A6IF-01A-11D-A31L-08	TCGA-QK-A6IF-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80841ea-55be-4fc9-9353-604846afea4b	670a32a1-f498-40b8-96cc-ad24ebe37796	g.chr8:91963412C>A	ENST00000417640.2	+	12	1347	c.1010C>A	c.(1009-1011)aCa>aAa	p.T337K	NECAB1_ENST00000522820.1_Missense_Mutation_p.T86K|NECAB1_ENST00000521366.1_Missense_Mutation_p.T86K	NM_022351.4	NP_071746.1	Q8N987	NECA1_HUMAN	N-terminal EF-hand calcium binding protein 1	337	ABM.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.T337I(1)		breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	12			BRCA - Breast invasive adenocarcinoma(11;0.0499)			CCAGAACTCACATCTACAATG	0.343																																						ENST00000417640.2																			1	Substitution - Missense(1)	p.T337I(1)	lung(1)	breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	12						c.(1009-1011)aCa>aAa		N-terminal EF-hand calcium binding protein 1							84.0	83.0	83.0					8																	91963412		1842	4087	5929	SO:0001583	missense	64168				antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity	g.chr8:91963412C>A	AF414126	CCDS47889.1	8q21.3	2013-01-10	2007-12-06	2007-12-06	ENSG00000123119	ENSG00000123119		"""N-terminal EF-hand calcium binding proteins"", ""EF-hand domain containing"""	20983	protein-coding gene	gene with protein product			"""EF-hand calcium binding protein 1"""	EFCBP1			Standard	NM_022351		Approved		uc011lgg.2	Q8N987	OTTHUMG00000164009	ENST00000417640.2:c.1010C>A	8.37:g.91963412C>A	ENSP00000387380:p.Thr337Lys					NECAB1_ENST00000521366.1_Missense_Mutation_p.T86K|NECAB1_ENST00000522820.1_Missense_Mutation_p.T86K	p.T337K	NM_022351.4	NP_071746.1	Q8N987	NECA1_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0499)		12	1347	+			337					Q6NUS7|Q96AZ7|Q9HBW8	Missense_Mutation	SNP	ENST00000417640.2	37	c.1010C>A	CCDS47889.1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.892071	0.52014	.	.	ENSG00000123119	ENST00000417640;ENST00000522820;ENST00000521366	T;T;T	0.30448	2.26;1.53;1.53	5.41	2.62	0.31277	Dimeric alpha-beta barrel (1);	0.363781	0.33290	N	0.005062	T	0.13884	0.0336	N	0.08118	0	0.30428	N	0.777424	B	0.27068	0.167	B	0.23275	0.045	T	0.08889	-1.0700	10	0.87932	D	0	-39.9775	6.3806	0.21531	0.0:0.5666:0.0:0.4334	.	337	Q8N987	NECA1_HUMAN	K	337;86;86	ENSP00000387380:T337K;ENSP00000428953:T86K;ENSP00000428632:T86K	ENSP00000387380:T337K	T	+	2	0	NECAB1	92032588	0.980000	0.34600	1.000000	0.80357	0.994000	0.84299	1.245000	0.32790	0.648000	0.30732	0.467000	0.42956	ACA		0.343	NECAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376728.1	NM_022351		14	28	1	0	8.60227e-14	1	8.79344e-14	14	28				
PDLIM1	9124	broad.mit.edu	37	10	97028545	97028545	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6IF-01A-11D-A31L-08	TCGA-QK-A6IF-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80841ea-55be-4fc9-9353-604846afea4b	670a32a1-f498-40b8-96cc-ad24ebe37796	g.chr10:97028545G>A	ENST00000329399.6	-	3	431	c.323C>T	c.(322-324)tCt>tTt	p.S108F	PDLIM1_ENST00000477757.1_5'UTR	NM_020992.2	NP_066272.1	O00151	PDLI1_HUMAN	PDZ and LIM domain 1	108					regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|skin(2)	10		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		CTGGGGTTCAGAGGCTAAATT	0.498																																						ENST00000329399.6																			0				endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|skin(2)	10						c.(322-324)tCt>tTt		PDZ and LIM domain 1							210.0	159.0	176.0					10																	97028545		2203	4300	6503	SO:0001583	missense	9124				response to oxidative stress	cytoplasm|cytoskeleton	zinc ion binding	g.chr10:97028545G>A	U90878	CCDS7441.1	10q23.1	2008-07-29	2008-07-29		ENSG00000107438	ENSG00000107438			2067	protein-coding gene	gene with protein product	"""carboxyl terminal LIM domain protein 1"", ""elfin"""	605900	"""PDZ and LIM domain 1 (elfin)"""	CLIM1		10861853	Standard	NM_020992		Approved	CLP-36, hCLIM1, CLP36	uc001kkh.4	O00151	OTTHUMG00000018810	ENST00000329399.6:c.323C>T	10.37:g.97028545G>A	ENSP00000360305:p.Ser108Phe					PDLIM1_ENST00000477757.1_5'UTR	p.S108F	NM_020992.2	NP_066272.1	O00151	PDLI1_HUMAN		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)	3	431	-		Colorectal(252;0.083)	108					B2RBS6|Q5VZH5|Q9BPZ9	Missense_Mutation	SNP	ENST00000329399.6	37	c.323C>T	CCDS7441.1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.659581	0.67586	.	.	ENSG00000107438	ENST00000329399	T	0.23348	1.91	5.07	4.17	0.49024	.	0.163089	0.56097	D	0.000027	T	0.48537	0.1505	M	0.83603	2.65	0.54753	D	0.999988	D	0.76494	0.999	D	0.65987	0.94	T	0.52442	-0.8575	10	0.66056	D	0.02	-15.9731	8.8832	0.35387	0.079:0.1491:0.7719:0.0	.	108	O00151	PDLI1_HUMAN	F	108	ENSP00000360305:S108F	ENSP00000360305:S108F	S	-	2	0	PDLIM1	97018535	1.000000	0.71417	0.973000	0.42090	0.866000	0.49608	6.581000	0.74045	1.509000	0.48786	0.655000	0.94253	TCT		0.498	PDLIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049508.1			21	66	0	0	0	1	0	21	66				
ASCL1	429	broad.mit.edu	37	12	103352385	103352385	+	Silent	SNP	G	G	A			TCGA-QK-A6IF-01A-11D-A31L-08	TCGA-QK-A6IF-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80841ea-55be-4fc9-9353-604846afea4b	670a32a1-f498-40b8-96cc-ad24ebe37796	g.chr12:103352385G>A	ENST00000266744.3	+	1	922	c.363G>A	c.(361-363)gcG>gcA	p.A121A		NM_004316.3	NP_004307.2	P50553	ASCL1_HUMAN	achaete-scute family bHLH transcription factor 1	121	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				adrenal chromaffin cell differentiation (GO:0061104)|carotid body glomus cell differentiation (GO:0061103)|cell maturation (GO:0048469)|cellular response to magnetism (GO:0071259)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|cerebral cortex GABAergic interneuron differentiation (GO:0021892)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|lung epithelial cell differentiation (GO:0060487)|lung neuroendocrine cell differentiation (GO:0061100)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of apoptotic process (GO:0043066)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuroblast fate determination (GO:0007400)|neuroblast proliferation (GO:0007405)|neurogenesis (GO:0022008)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|noradrenergic neuron development (GO:0003358)|noradrenergic neuron fate commitment (GO:0003359)|Notch signaling pathway (GO:0007219)|olfactory pit development (GO:0060166)|oligodendrocyte development (GO:0014003)|positive regulation of cell cycle (GO:0045787)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epithelial cell differentiation (GO:0030856)|regulation of gene expression (GO:0010468)|regulation of mitotic cell cycle (GO:0007346)|regulation of timing of subpallium neuron differentiation (GO:0060165)|response to epidermal growth factor (GO:0070849)|response to folic acid (GO:0051593)|response to lithium ion (GO:0010226)|response to retinoic acid (GO:0032526)|spinal cord association neuron differentiation (GO:0021527)|spinal cord oligodendrocyte cell fate specification (GO:0021530)|stomach neuroendocrine cell differentiation (GO:0061102)|subpallium neuron fate commitment (GO:0060163)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|transcription, DNA-templated (GO:0006351)|ventral spinal cord interneuron fate commitment (GO:0060579)|vestibular nucleus development (GO:0021750)	neuronal cell body (GO:0043025)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)			NS(3)|large_intestine(1)|lung(1)	5						CCGCCGTGGCGCGCCGCAACG	0.667																																						ENST00000266744.3																			0				NS(3)|large_intestine(1)|lung(1)	5						c.(361-363)gcG>gcA		achaete-scute family bHLH transcription factor 1							17.0	16.0	16.0					12																	103352385		2193	4279	6472	SO:0001819	synonymous_variant	429				cerebral cortex GABAergic interneuron differentiation|negative regulation of apoptosis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|noradrenergic neuron fate commitment|Notch signaling pathway|positive regulation of neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|response to retinoic acid|sympathetic nervous system development	nucleus	bHLH transcription factor binding|E-box binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity	g.chr12:103352385G>A	L08424	CCDS31886.1	12q22-q23	2013-10-17	2013-10-17			ENSG00000139352		"""Basic helix-loop-helix proteins"""	738	protein-coding gene	gene with protein product		100790	"""achaete-scute complex (Drosophila) homolog-like 1"", ""achaete-scute complex-like 1 (Drosophila)"", ""achaete-scute complex homolog 1 (Drosophila)"""			8390674	Standard	NM_004316		Approved	ASH1, HASH1, bHLHa46	uc001tjr.4	P50553		ENST00000266744.3:c.363G>A	12.37:g.103352385G>A							p.A121A	NM_004316.3	NP_004307.2	P50553	ASCL1_HUMAN			1	922	+			121					A8K3C4|Q9BQ30	Silent	SNP	ENST00000266744.3	37	c.363G>A	CCDS31886.1																																																																																				0.667	ASCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406707.1			4	18	0	0	0	1	0	4	18				
FBXW12	285231	broad.mit.edu	37	3	48415175	48415175	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A6IF-01A-11D-A31L-08	TCGA-QK-A6IF-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80841ea-55be-4fc9-9353-604846afea4b	670a32a1-f498-40b8-96cc-ad24ebe37796	g.chr3:48415175A>G	ENST00000296438.5	+	4	452	c.266A>G	c.(265-267)tAc>tGc	p.Y89C	FBXW12_ENST00000436231.1_Intron|FBXW12_ENST00000445170.1_Missense_Mutation_p.Y70C|FBXW12_ENST00000415155.1_Missense_Mutation_p.Y89C	NM_207102.2	NP_996985.2	Q6X9E4	FBW12_HUMAN	F-box and WD repeat domain containing 12	89										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AACTTTATCTACAAAGTAACT	0.448																																						ENST00000296438.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(265-267)tAc>tGc		F-box and WD repeat domain containing 12							101.0	98.0	99.0					3																	48415175		2203	4300	6503	SO:0001583	missense	285231							g.chr3:48415175A>G	AK097594, AY247969	CCDS2764.1, CCDS54577.1, CCDS54578.1	3p21.31	2011-07-01	2007-02-08	2004-07-21	ENSG00000164049	ENSG00000164049		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	20729	protein-coding gene	gene with protein product		609075	"""F-box only protein 35"", ""F-box and WD-40 domain protein 12"""	FBXO35		15040455	Standard	NM_207102		Approved	Fbw12	uc010hjv.3	Q6X9E4	OTTHUMG00000133530	ENST00000296438.5:c.266A>G	3.37:g.48415175A>G	ENSP00000296438:p.Tyr89Cys					FBXW12_ENST00000445170.1_Missense_Mutation_p.Y70C|FBXW12_ENST00000436231.1_Intron|FBXW12_ENST00000415155.1_Missense_Mutation_p.Y89C	p.Y89C	NM_207102.2	NP_996985.2	Q6X9E4	FBW12_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	4	452	+			89					E9PG36|Q494Y9|Q494Z0	Missense_Mutation	SNP	ENST00000296438.5	37	c.266A>G	CCDS2764.1	.	.	.	.	.	.	.	.	.	.	a	4.530	0.098350	0.08681	.	.	ENSG00000164049	ENST00000296438;ENST00000445170;ENST00000415155	T;T;T	0.29655	2.02;1.61;1.56	3.43	-6.86	0.01676	F-box domain, Skp2-like (1);	0.441211	0.24202	N	0.040604	T	0.10165	0.0249	N	0.08118	0	0.09310	N	1	B;B;B	0.09022	0.002;0.001;0.001	B;B;B	0.09377	0.004;0.002;0.001	T	0.03863	-1.0997	10	0.45353	T	0.12	-0.0031	4.5653	0.12184	0.1807:0.1296:0.5506:0.139	.	70;89;89	E9PG36;Q494Z0;Q6X9E4	.;.;FBW12_HUMAN	C	89;70;89	ENSP00000296438:Y89C;ENSP00000406139:Y70C;ENSP00000414683:Y89C	ENSP00000296438:Y89C	Y	+	2	0	FBXW12	48390179	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.537000	0.02206	-1.975000	0.00997	-2.227000	0.00293	TAC		0.448	FBXW12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257505.1	NM_207102		18	36	0	0	0	1	0	18	36				
EEF1A1	1915	broad.mit.edu	37	6	74228090	74228090	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6IF-01A-11D-A31L-08	TCGA-QK-A6IF-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80841ea-55be-4fc9-9353-604846afea4b	670a32a1-f498-40b8-96cc-ad24ebe37796	g.chr6:74228090C>T	ENST00000316292.9	-	5	2007	c.1016G>A	c.(1015-1017)gGc>gAc	p.G339D	EEF1A1_ENST00000491404.1_Intron|EEF1A1_ENST00000331523.2_Missense_Mutation_p.G339D|EEF1A1_ENST00000309268.6_Missense_Mutation_p.G339D	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	339					cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation elongation factor activity (GO:0003746)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						AGCAGTGAAGCCAGCTGCTTC	0.418											OREG0003895	type=REGULATORY REGION|Gene=D16891|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000316292.9																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						c.(1015-1017)gGc>gAc		eukaryotic translation elongation factor 1 alpha 1							80.0	80.0	80.0					6																	74228090		2190	4292	6482	SO:0001583	missense	1915					cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr6:74228090C>T	BC019669	CCDS4980.1	6q14.1	2010-06-30	2004-11-19		ENSG00000156508	ENSG00000156508			3189	protein-coding gene	gene with protein product		130590	"""leukocyte receptor cluster (LRC) member 7"""	EF1A, EEF1A, LENG7		8812466, 10941842	Standard	NM_001402		Approved	EE1A1	uc003phj.3	P68104	OTTHUMG00000015031	ENST00000316292.9:c.1016G>A	6.37:g.74228090C>T	ENSP00000339063:p.Gly339Asp		OREG0003895	type=REGULATORY REGION|Gene=D16891|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1151	EEF1A1_ENST00000331523.2_Missense_Mutation_p.G339D|EEF1A1_ENST00000309268.6_Missense_Mutation_p.G339D|EEF1A1_ENST00000491404.1_Intron	p.G339D	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN			5	2007	-			339					P04719|P04720|Q6IQ15	Missense_Mutation	SNP	ENST00000316292.9	37	c.1016G>A	CCDS4980.1	.	.	.	.	.	.	.	.	.	.	C	10.94	1.491741	0.26774	.	.	ENSG00000156508	ENST00000316292;ENST00000358190;ENST00000309268;ENST00000331523;ENST00000391977	T;T;T	0.40756	1.02;1.02;1.02	4.71	4.71	0.59529	Translation elongation factor EF1A/initiation factor IF2gamma, C-terminal (2);Translation elongation factor EFTu/EF1A, C-terminal (2);	0.285367	0.34362	U	0.004022	T	0.10680	0.0261	N	0.02129	-0.67	0.41574	D	0.988702	B;B;B	0.30361	0.277;0.096;0.096	B;B;B	0.35353	0.201;0.201;0.201	T	0.13575	-1.0504	10	0.30078	T	0.28	.	13.7978	0.63182	0.0:0.8463:0.1537:0.0	.	339;339;339	P68104;Q53HR5;Q5VTE0	EF1A1_HUMAN;.;EF1A3_HUMAN	D	339;337;339;339;318	ENSP00000339063:G339D;ENSP00000339053:G339D;ENSP00000330054:G339D	ENSP00000339053:G339D	G	-	2	0	EEF1A1	74284811	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.167000	0.42415	2.323000	0.78572	0.556000	0.70494	GGC		0.418	EEF1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041210.2	NM_001402		21	53	0	0	0	1	0	21	53				
KPNA6	23633	broad.mit.edu	37	1	32625009	32625009	+	Silent	SNP	T	T	G			TCGA-QK-A6IF-01A-11D-A31L-08	TCGA-QK-A6IF-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80841ea-55be-4fc9-9353-604846afea4b	670a32a1-f498-40b8-96cc-ad24ebe37796	g.chr1:32625009T>G	ENST00000373625.3	+	6	528	c.435T>G	c.(433-435)gcT>gcG	p.A145A	KPNA6_ENST00000537234.1_Silent_p.A142A|KPNA6_ENST00000469790.1_3'UTR|KPNA6_ENST00000545542.1_Silent_p.A150A	NM_012316.4	NP_036448.1	O60684	IMA7_HUMAN	karyopherin alpha 6 (importin alpha 7)	145					maternal process involved in female pregnancy (GO:0060135)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			large_intestine(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				AGTTTGAAGCTGCCTGGGCTC	0.463																																						ENST00000373625.3																			0				large_intestine(2)	2						c.(433-435)gcT>gcG		karyopherin alpha 6 (importin alpha 7)							126.0	121.0	123.0					1																	32625009		2203	4300	6503	SO:0001819	synonymous_variant	23633				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding	g.chr1:32625009T>G	AF060543	CCDS352.1	1p35.1	2013-02-14			ENSG00000025800	ENSG00000025800		"""Importins"", ""Armadillo repeat containing"""	6399	protein-coding gene	gene with protein product		610563				10523667	Standard	NM_012316		Approved	IPOA7, KPNA7, MGC17918, FLJ11249	uc001bug.3	O60684	OTTHUMG00000004333	ENST00000373625.3:c.435T>G	1.37:g.32625009T>G						KPNA6_ENST00000469790.1_3'UTR|KPNA6_ENST00000545542.1_Silent_p.A150A|KPNA6_ENST00000537234.1_Silent_p.A142A	p.A145A	NM_012316.4	NP_036448.1	O60684	IMA7_HUMAN			6	528	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)	145					B2RDC7|D3DPP5|Q5VVU3	Silent	SNP	ENST00000373625.3	37	c.435T>G	CCDS352.1																																																																																				0.463	KPNA6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000012527.4	NM_012316		29	51	0	0	0	1	0	29	51				
FLG	2312	broad.mit.edu	37	1	152282739	152282739	+	Silent	SNP	G	G	A			TCGA-QK-A6IF-01A-11D-A31L-08	TCGA-QK-A6IF-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80841ea-55be-4fc9-9353-604846afea4b	670a32a1-f498-40b8-96cc-ad24ebe37796	g.chr1:152282739G>A	ENST00000368799.1	-	3	4658	c.4623C>T	c.(4621-4623)agC>agT	p.S1541S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1541	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTGTTTGCCTGCTTGCACTTC	0.572									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(4621-4623)agC>agT		filaggrin							301.0	291.0	294.0					1																	152282739		2203	4300	6503	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152282739G>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.4623C>T	1.37:g.152282739G>A						FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.S1541S	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4658	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1541			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.4623C>T	CCDS30860.1																																																																																				0.572	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		37	344	0	0	0	1	0	37	344				
HK3	3101	broad.mit.edu	37	5	176309093	176309093	+	Missense_Mutation	SNP	G	G	A	rs147409752		TCGA-QK-A6IF-01A-11D-A31L-08	TCGA-QK-A6IF-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80841ea-55be-4fc9-9353-604846afea4b	670a32a1-f498-40b8-96cc-ad24ebe37796	g.chr5:176309093G>A	ENST00000292432.5	-	16	2180	c.2089C>T	c.(2089-2091)Cgg>Tgg	p.R697W		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	697	Catalytic.|Hexokinase type-2 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|hormone binding (GO:0042562)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCACATTCCGGAGCTCCTCC	0.607													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19085	0.0		0.0	False		,,,				2504	0.0					ENST00000292432.5																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(2089-2091)Cgg>Tgg		hexokinase 3 (white cell)							51.0	48.0	49.0					5																	176309093		2203	4299	6502	SO:0001583	missense	3101				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity	g.chr5:176309093G>A		CCDS4407.1	5q35.2	2008-02-05			ENSG00000160883	ENSG00000160883	2.7.1.1		4925	protein-coding gene	gene with protein product		142570				8812439	Standard	NM_002115		Approved		uc003mfa.3	P52790	OTTHUMG00000130855	ENST00000292432.5:c.2089C>T	5.37:g.176309093G>A	ENSP00000292432:p.Arg697Trp						p.R697W	NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		16	2180	-	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	697			Catalytic.		Q8N1E7	Missense_Mutation	SNP	ENST00000292432.5	37	c.2089C>T	CCDS4407.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	12.75	2.031792	0.35797	.	.	ENSG00000160883	ENST00000292432;ENST00000514058	D;D	0.98192	-4.78;-4.08	5.06	2.29	0.28610	Hexokinase, C-terminal (1);	1.126930	0.06654	N	0.763329	D	0.98689	0.9560	M	0.87180	2.865	0.09310	N	1	D	0.67145	0.996	P	0.60789	0.879	D	0.91755	0.5415	10	0.87932	D	0	.	6.4546	0.21922	0.0679:0.1026:0.5238:0.3058	.	697	P52790	HXK3_HUMAN	W	697;87	ENSP00000292432:R697W;ENSP00000424632:R87W	ENSP00000292432:R697W	R	-	1	2	HK3	176241699	0.029000	0.19370	0.240000	0.24138	0.422000	0.31414	0.227000	0.17795	0.399000	0.25367	-0.808000	0.03180	CGG		0.607	HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253428.1			23	28	0	0	0	1	0	23	28				
NPAS2	4862	broad.mit.edu	37	2	101591395	101591395	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6IF-01A-11D-A31L-08	TCGA-QK-A6IF-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80841ea-55be-4fc9-9353-604846afea4b	670a32a1-f498-40b8-96cc-ad24ebe37796	g.chr2:101591395C>T	ENST00000335681.5	+	13	1556	c.1271C>T	c.(1270-1272)tCa>tTa	p.S424L	NPAS2_ENST00000542504.1_Missense_Mutation_p.S489L|AC016738.3_ENST00000433012.1_RNA|AC016738.3_ENST00000446644.1_RNA|AC016738.3_ENST00000439150.1_RNA	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	424					cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|circadian sleep/wake cycle (GO:0042745)|locomotor rhythm (GO:0045475)|negative regulation of cell death (GO:0060548)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of response to DNA damage stimulus (GO:2001020)|response to redox state (GO:0051775)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|Hsp90 protein binding (GO:0051879)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ACAGCCATGTCAGAACCCACC	0.577																																						ENST00000335681.5																			0				cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1270-1272)tCa>tTa		neuronal PAS domain protein 2							83.0	72.0	76.0					2																	101591395		2203	4300	6503	SO:0001583	missense	4862				central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:101591395C>T	U77970	CCDS2048.1	2q11.2	2013-05-21			ENSG00000170485	ENSG00000170485		"""Basic helix-loop-helix proteins"""	7895	protein-coding gene	gene with protein product		603347				9012850, 9079689	Standard	NM_002518		Approved	MOP4, PASD4, bHLHe9	uc002tap.1	Q99743	OTTHUMG00000130675	ENST00000335681.5:c.1271C>T	2.37:g.101591395C>T	ENSP00000338283:p.Ser424Leu					NPAS2_ENST00000542504.1_Missense_Mutation_p.S489L|AC016738.3_ENST00000446644.1_RNA|AC016738.3_ENST00000439150.1_RNA	p.S424L	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN			13	1556	+			424					Q4ZFV9|Q53SQ3|Q86V96|Q99629	Missense_Mutation	SNP	ENST00000335681.5	37	c.1271C>T	CCDS2048.1	.	.	.	.	.	.	.	.	.	.	C	35	5.594689	0.96602	.	.	ENSG00000170485	ENST00000335681;ENST00000542504;ENST00000450763	T;T;T	0.51325	3.16;3.11;0.71	6.17	6.17	0.99709	.	0.377447	0.30840	N	0.008764	T	0.72700	0.3493	M	0.80982	2.52	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.998	D;P;D	0.76071	0.987;0.902;0.946	T	0.70353	-0.4895	10	0.46703	T	0.11	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	489;424;424	F5H027;A0PJF9;Q99743	.;.;NPAS2_HUMAN	L	424;489;23	ENSP00000338283:S424L;ENSP00000438428:S489L;ENSP00000392125:S23L	ENSP00000338283:S424L	S	+	2	0	NPAS2	100957827	1.000000	0.71417	0.974000	0.42286	0.969000	0.65631	7.112000	0.77086	2.941000	0.99782	0.655000	0.94253	TCA		0.577	NPAS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253168.3			26	5	0	0	0	1	0	26	5				
SRSF5	6430	broad.mit.edu	37	14	70235548	70235548	+	Silent	SNP	A	A	G			TCGA-QK-A6IF-01A-11D-A31L-08	TCGA-QK-A6IF-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80841ea-55be-4fc9-9353-604846afea4b	670a32a1-f498-40b8-96cc-ad24ebe37796	g.chr14:70235548A>G	ENST00000553521.1	+	5	1684	c.231A>G	c.(229-231)cgA>cgG	p.R77R	SRSF5_ENST00000553548.1_Silent_p.R77R|SRSF5_ENST00000557154.1_Silent_p.R77R|SRSF5_ENST00000394366.2_Silent_p.R77R|SRSF5_ENST00000553635.1_Silent_p.R74R|SRSF5_ENST00000554021.1_Silent_p.R77R|SRSF5_ENST00000556587.1_3'UTR|SRSF5_ENST00000451983.2_Silent_p.R77R|SRSF5_ENST00000555349.1_Silent_p.R77R			Q13243	SRSF5_HUMAN	serine/arginine-rich splicing factor 5	77					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|regulation of cell cycle (GO:0051726)|response to wounding (GO:0009611)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			large_intestine(1)|liver(1)	2						CTCGGTCACGAGGTGGAAGAG	0.423																																						ENST00000553521.1																			0				large_intestine(1)|liver(1)	2						c.(229-231)cgA>cgG		serine/arginine-rich splicing factor 5							125.0	114.0	118.0					14																	70235548		2203	4300	6503	SO:0001819	synonymous_variant	6430				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|protein binding|RNA binding	g.chr14:70235548A>G	AF020307	CCDS32109.1	14q24	2013-02-12	2010-06-22	2010-06-22	ENSG00000100650	ENSG00000100650		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10787	protein-coding gene	gene with protein product	"""SR splicing factor 5"""	600914	"""splicing factor, arginine/serine-rich 5"""	SFRS5		7686911, 20516191	Standard	XM_005267998		Approved	SRP40, HRS	uc001xlp.3	Q13243		ENST00000553521.1:c.231A>G	14.37:g.70235548A>G						SRSF5_ENST00000555349.1_Silent_p.R77R|SRSF5_ENST00000554021.1_Silent_p.R77R|SRSF5_ENST00000553548.1_Silent_p.R77R|SRSF5_ENST00000553635.1_Silent_p.R74R|SRSF5_ENST00000451983.2_Silent_p.R77R|SRSF5_ENST00000557154.1_Silent_p.R77R|SRSF5_ENST00000556587.1_3'UTR|SRSF5_ENST00000394366.2_Silent_p.R77R	p.R77R			Q13243	SRSF5_HUMAN			5	1684	+			77					O14797|Q16662|Q49AD6|Q6FGE0	Silent	SNP	ENST00000553521.1	37	c.231A>G	CCDS32109.1																																																																																				0.423	SRSF5-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412456.1	NM_001039465		3	53	0	0	0	1	0	3	53				
SEC24B	10427	broad.mit.edu	37	4	110451514	110451514	+	Missense_Mutation	SNP	C	C	T	rs199826133		TCGA-QK-A6IF-01A-11D-A31L-08	TCGA-QK-A6IF-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80841ea-55be-4fc9-9353-604846afea4b	670a32a1-f498-40b8-96cc-ad24ebe37796	g.chr4:110451514C>T	ENST00000265175.5	+	19	3201	c.3146C>T	c.(3145-3147)tCa>tTa	p.S1049L	SEC24B_ENST00000504968.2_Missense_Mutation_p.S1079L|SEC24B_ENST00000399100.2_Missense_Mutation_p.S1014L	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	1049					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|aorta morphogenesis (GO:0035909)|auditory receptor cell stereocilium organization (GO:0060088)|cellular protein metabolic process (GO:0044267)|cochlear nucleus development (GO:0021747)|COPII vesicle coating (GO:0048208)|coronary artery morphogenesis (GO:0060982)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|lung lobe morphogenesis (GO:0060463)|membrane organization (GO:0061024)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|pulmonary artery morphogenesis (GO:0061156)|regulation of cargo loading into COPII-coated vesicle (GO:1901301)|regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|membrane (GO:0016020)	transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		GTAGTGGACTCATTGTCTGCA	0.448													C|||	1	0.000199681	0.0	0.0	5008	,	,		14883	0.001		0.0	False		,,,				2504	0.0					ENST00000265175.5																			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(3145-3147)tCa>tTa		SEC24 family member B							202.0	193.0	196.0					4																	110451514		2016	4199	6215	SO:0001583	missense	10427				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding	g.chr4:110451514C>T	AJ131245	CCDS43260.1, CCDS47124.1, CCDS75179.1	4q25	2013-10-21	2013-10-21		ENSG00000138802	ENSG00000138802			10704	protein-coding gene	gene with protein product		607184	"""SEC24 (S. cerevisiae) related gene family, member B"", ""SEC24 family, member B (S. cerevisiae)"""			10075675, 10329445	Standard	XM_005262688		Approved		uc003hzk.3	O95487	OTTHUMG00000161372	ENST00000265175.5:c.3146C>T	4.37:g.110451514C>T	ENSP00000265175:p.Ser1049Leu					SEC24B_ENST00000504968.2_Missense_Mutation_p.S1079L|SEC24B_ENST00000399100.2_Missense_Mutation_p.S1014L	p.S1049L	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)	19	3201	+		Hepatocellular(203;0.217)	1049					B7ZKM8|B7ZKN4|Q0VG08	Missense_Mutation	SNP	ENST00000265175.5	37	c.3146C>T	CCDS47124.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	12.59	1.984511	0.35036	.	.	ENSG00000138802	ENST00000504968;ENST00000399100;ENST00000265175	D;D;D	0.87179	-2.22;-2.22;-2.22	5.24	5.24	0.73138	Sec23/Sec24, helical domain (2);	0.328121	0.31734	N	0.007142	T	0.79851	0.4517	L	0.31526	0.94	0.47276	D	0.999372	B;B;B;B;B	0.31174	0.013;0.012;0.311;0.162;0.195	B;B;B;B;B	0.25291	0.059;0.021;0.059;0.035;0.059	T	0.76495	-0.2938	10	0.13470	T	0.59	-7.8361	18.8279	0.92125	0.0:1.0:0.0:0.0	.	963;648;1079;1014;1049	B4DTM6;B4E2E1;B7ZKM8;O95487-2;O95487	.;.;.;.;SC24B_HUMAN	L	1079;1014;1049	ENSP00000428564:S1079L;ENSP00000382051:S1014L;ENSP00000265175:S1049L	ENSP00000265175:S1049L	S	+	2	0	SEC24B	110670963	0.981000	0.34729	0.853000	0.33588	0.758000	0.43043	2.619000	0.46401	2.456000	0.83038	0.650000	0.86243	TCA		0.448	SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364693.2			15	21	0	0	0	1	0	15	21				
ACTN2	88	broad.mit.edu	37	1	236882250	236882250	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6IF-01A-11D-A31L-08	TCGA-QK-A6IF-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80841ea-55be-4fc9-9353-604846afea4b	670a32a1-f498-40b8-96cc-ad24ebe37796	g.chr1:236882250G>A	ENST00000366578.4	+	3	464	c.298G>A	c.(298-300)Gtc>Atc	p.V100I	ACTN2_ENST00000542672.1_Missense_Mutation_p.V100I|ACTN2_ENST00000492634.1_3'UTR	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	100	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			AATTGCTAATGTCAACAAAGC	0.502																																						ENST00000366578.4																			0				endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86						c.(298-300)Gtc>Atc		actinin, alpha 2							141.0	134.0	137.0					1																	236882250		2203	4300	6503	SO:0001583	missense	88				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	g.chr1:236882250G>A	BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"""EF-hand domain containing"""	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.298G>A	1.37:g.236882250G>A	ENSP00000355537:p.Val100Ile					ACTN2_ENST00000542672.1_Missense_Mutation_p.V100I|ACTN2_ENST00000492634.1_3'UTR	p.V100I	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00168)		3	464	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	100			Actin-binding.|CH 1.		B1ANE4|B2RCS5|Q86TF4|Q86TI8	Missense_Mutation	SNP	ENST00000366578.4	37	c.298G>A	CCDS1613.1	.	.	.	.	.	.	.	.	.	.	G	33	5.211798	0.95069	.	.	ENSG00000077522	ENST00000542672;ENST00000366578	T;T	0.58797	0.31;0.31	5.56	5.56	0.83823	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	T	0.69682	0.3138	L	0.47078	1.49	0.80722	D	1	P;B	0.47484	0.896;0.387	P;P	0.61328	0.692;0.887	T	0.66897	-0.5807	10	0.45353	T	0.12	.	18.6602	0.91469	0.0:0.0:1.0:0.0	.	100;100	B2RCS5;P35609	.;ACTN2_HUMAN	I	100	ENSP00000443495:V100I;ENSP00000355537:V100I	ENSP00000355537:V100I	V	+	1	0	ACTN2	234948873	1.000000	0.71417	0.996000	0.52242	0.981000	0.71138	9.542000	0.98086	2.775000	0.95449	0.655000	0.94253	GTC		0.502	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	NM_001103		20	40	0	0	0	1	0	20	40				
KRTAP17-1	83902	broad.mit.edu	37	17	39471807	39471807	+	Silent	SNP	G	G	A	rs374518988		TCGA-QK-A6IF-01A-11D-A31L-08	TCGA-QK-A6IF-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80841ea-55be-4fc9-9353-604846afea4b	670a32a1-f498-40b8-96cc-ad24ebe37796	g.chr17:39471807G>A	ENST00000334202.3	-	1	140	c.96C>T	c.(94-96)tgC>tgT	p.C32C		NM_031964.1	NP_114170.1	Q9BYP8	KR171_HUMAN	keratin associated protein 17-1	32						intermediate filament (GO:0005882)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			agcaggagccgcagcagccac	0.682																																						ENST00000334202.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2						c.(94-96)tgC>tgT		keratin associated protein 17-1		G		0,4340		0,0,2170	11.0	14.0	13.0		96	-3.8	0.9	17		13	1,8471		0,1,4235	no	coding-synonymous	KRTAP17-1	NM_031964.1		0,1,6405	AA,AG,GG		0.0118,0.0,0.0078		32/106	39471807	1,12811	2170	4236	6406	SO:0001819	synonymous_variant	83902					intermediate filament		g.chr17:39471807G>A	AJ406952	CCDS11387.1	17q21.2	2013-06-20			ENSG00000186860	ENSG00000186860		"""Keratin associated proteins"""	18917	protein-coding gene	gene with protein product							Standard	NM_031964		Approved	KAP17.1	uc002hwj.3	Q9BYP8	OTTHUMG00000133433	ENST00000334202.3:c.96C>T	17.37:g.39471807G>A							p.C32C	NM_031964.1	NP_114170.1	Q9BYP8	KR171_HUMAN	STAD - Stomach adenocarcinoma(17;0.000449)		1	140	-		Breast(137;0.000496)	32						Silent	SNP	ENST00000334202.3	37	c.96C>T	CCDS11387.1																																																																																				0.682	KRTAP17-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257296.1			8	6	0	0	0	1	0	8	6				
ZFC3H1	196441	broad.mit.edu	37	12	72027093	72027093	+	Missense_Mutation	SNP	T	T	A			TCGA-QK-A6IF-01A-11D-A31L-08	TCGA-QK-A6IF-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80841ea-55be-4fc9-9353-604846afea4b	670a32a1-f498-40b8-96cc-ad24ebe37796	g.chr12:72027093T>A	ENST00000378743.3	-	13	2994	c.2636A>T	c.(2635-2637)gAa>gTa	p.E879V		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	879					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						AAGAATTTTTTCAGTTGCTTG	0.294																																						ENST00000378743.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(2635-2637)gAa>gTa		zinc finger, C3H1-type containing							55.0	51.0	52.0					12																	72027093		1798	4049	5847	SO:0001583	missense	196441				RNA processing	intracellular	metal ion binding	g.chr12:72027093T>A	AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.2636A>T	12.37:g.72027093T>A	ENSP00000368017:p.Glu879Val						p.E879V	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN			13	2994	-			879					Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	ENST00000378743.3	37	c.2636A>T	CCDS41813.1	.	.	.	.	.	.	.	.	.	.	T	16.97	3.269938	0.59540	.	.	ENSG00000133858	ENST00000378743	T	0.61392	0.11	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.61862	0.2381	N	0.19112	0.55	0.80722	D	1	D	0.76494	0.999	D	0.70716	0.97	T	0.65492	-0.6155	10	0.49607	T	0.09	.	14.7711	0.69679	0.0:0.0:0.0:1.0	.	879	O60293	ZC3H1_HUMAN	V	879	ENSP00000368017:E879V	ENSP00000368017:E879V	E	-	2	0	ZFC3H1	70313360	1.000000	0.71417	1.000000	0.80357	0.715000	0.41141	7.456000	0.80751	1.885000	0.54596	0.377000	0.23210	GAA		0.294	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982		4	8	0	0	0	1	0	4	8				
ANKS6	203286	broad.mit.edu	37	9	101546340	101546340	+	Missense_Mutation	SNP	G	G	A	rs376870807		TCGA-QK-A6IF-01A-11D-A31L-08	TCGA-QK-A6IF-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80841ea-55be-4fc9-9353-604846afea4b	670a32a1-f498-40b8-96cc-ad24ebe37796	g.chr9:101546340G>A	ENST00000353234.4	-	4	1054	c.1007C>T	c.(1006-1008)aCg>aTg	p.T336M	ANKS6_ENST00000375018.1_Missense_Mutation_p.T336M|ANKS6_ENST00000540940.1_Missense_Mutation_p.T141M|ANKS6_ENST00000375019.2_Missense_Mutation_p.T35M			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	336						cilium (GO:0005929)|cytoplasm (GO:0005737)				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				CAGCTGCCCCGTAACAGCTGC	0.607																																						ENST00000353234.4																			0				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21						c.(1006-1008)aCg>aTg		ankyrin repeat and sterile alpha motif domain containing 6		G	MET/THR	1,4313		0,1,2156	57.0	63.0	61.0		1007	0.8	1.0	9		61	0,8524		0,0,4262	no	missense	ANKS6	NM_173551.3	81	0,1,6418	AA,AG,GG		0.0,0.0232,0.0078	benign	336/872	101546340	1,12837	2157	4262	6419	SO:0001583	missense	203286							g.chr9:101546340G>A	AK094247	CCDS43856.1	9q31.1	2013-09-10	2006-02-17	2006-02-17	ENSG00000165138	ENSG00000165138		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	26724	protein-coding gene	gene with protein product		615370	"""sterile alpha motif domain containing 6"", ""ankyrin repeat domain 14"""	SAMD6, ANKRD14		23793029	Standard	XM_005251793		Approved	FLJ36928, NPHP16	uc004ayu.3	Q68DC2	OTTHUMG00000020347	ENST00000353234.4:c.1007C>T	9.37:g.101546340G>A	ENSP00000297837:p.Thr336Met					ANKS6_ENST00000375019.2_Missense_Mutation_p.T35M|ANKS6_ENST00000540940.1_Missense_Mutation_p.T141M|ANKS6_ENST00000375018.1_Missense_Mutation_p.T336M	p.T336M			Q68DC2	ANKS6_HUMAN			4	1054	-		Acute lymphoblastic leukemia(62;0.0527)	336					A0SE62|Q5VSL0|Q5VSL2|Q5VSL3|Q5VSL4|Q68DB8|Q6P2R2|Q8N9L6|Q96D62	Missense_Mutation	SNP	ENST00000353234.4	37	c.1007C>T	CCDS43856.1	.	.	.	.	.	.	.	.	.	.	G	8.582	0.882546	0.17467	2.32E-4	0.0	ENSG00000165138	ENST00000375019;ENST00000375018;ENST00000353234;ENST00000540940	T;T;T;T	0.64438	-0.1;-0.1;-0.1;0.63	5.52	0.804	0.18697	Ankyrin repeat-containing domain (4);	0.335647	0.38837	N	0.001551	T	0.42494	0.1205	N	0.17248	0.465	0.38986	D	0.959057	B	0.21753	0.06	B	0.20767	0.031	T	0.18429	-1.0337	10	0.39692	T	0.17	-6.8955	10.9975	0.47585	0.2118:0.0:0.7882:0.0	.	336	Q68DC2	ANKS6_HUMAN	M	35;336;336;141	ENSP00000364159:T35M;ENSP00000364158:T336M;ENSP00000297837:T336M;ENSP00000442189:T141M	ENSP00000297837:T336M	T	-	2	0	ANKS6	100586161	1.000000	0.71417	0.996000	0.52242	0.248000	0.25809	2.361000	0.44160	-0.108000	0.12066	-0.355000	0.07637	ACG		0.607	ANKS6-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277053.1	NM_173551		22	43	0	0	0	1	0	22	43				
ANKRD30BL	554226	broad.mit.edu	37	2	132905792	132905792	+	Missense_Mutation	SNP	G	G	C	rs189049364		TCGA-QK-A6IF-01A-11D-A31L-08	TCGA-QK-A6IF-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80841ea-55be-4fc9-9353-604846afea4b	670a32a1-f498-40b8-96cc-ad24ebe37796	g.chr2:132905792G>C	ENST00000409867.1	-	6	938	c.689C>G	c.(688-690)tCt>tGt	p.S230C	ANKRD30BL_ENST00000470729.1_5'UTR			A7E2S9	A30BL_HUMAN	ankyrin repeat domain 30B-like	230								p.S230C(2)		endometrium(1)|kidney(3)	4						TGTTCCTTCAGATGTTCCTTC	0.443																																						ENST00000409867.1																			2	Substitution - Missense(2)	p.S230C(2)	kidney(2)	endometrium(1)|kidney(3)	4						c.(688-690)tCt>tGt		ankyrin repeat domain 30B-like																																				SO:0001583	missense	554226							g.chr2:132905792G>C			2q21.2	2013-01-22	2010-06-14	2010-06-14	ENSG00000163046	ENSG00000163046		"""Ankyrin repeat domain containing"""	35167	protein-coding gene	gene with protein product			"""non-protein coding RNA 164"", ""ankyrin repeat domain 30B pseudogene 3"""	NCRNA00164, ANKRD30BP3		17114284	Standard	NR_027019		Approved		uc002tti.3	A7E2S9	OTTHUMG00000153491	ENST00000409867.1:c.689C>G	2.37:g.132905792G>C	ENSP00000386398:p.Ser230Cys					ANKRD30BL_ENST00000470729.1_5'UTR	p.S230C							6	938	-								B8ZZL7	Missense_Mutation	SNP	ENST00000409867.1	37	c.689C>G		.	.	.	.	.	.	.	.	.	.	.	8.999	0.979581	0.18812	.	.	ENSG00000163046	ENST00000409867	T	0.38560	1.13	0.109	0.109	0.14578	.	.	.	.	.	T	0.32793	0.0841	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.28427	-1.0044	5	0.35671	T	0.21	.	.	.	.	.	.	.	.	C	230	ENSP00000386398:S230C	ENSP00000386398:S230C	S	-	2	0	ANKRD30BL	132622262	0.200000	0.23398	0.088000	0.20740	0.105000	0.19272	0.320000	0.19540	0.181000	0.19994	0.184000	0.17185	TCT		0.443	ANKRD30BL-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331353.2	NR_027019		4	29	0	0	0	1	0	4	29				
SLC9A7P1	121456	broad.mit.edu	37	12	98849305	98849305	+	RNA	SNP	C	C	G			TCGA-QK-A6IF-01A-11D-A31L-08	TCGA-QK-A6IF-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80841ea-55be-4fc9-9353-604846afea4b	670a32a1-f498-40b8-96cc-ad24ebe37796	g.chr12:98849305C>G	ENST00000554295.1	-	0	1618					NR_033801.1				solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7 pseudogene 1																		GATGCTAACTCTGATATTAAG	0.512																																						ENST00000554295.1																			0																																																			121456							g.chr12:98849305C>G			12q23.1	2013-05-22	2012-03-22		ENSG00000227825	ENSG00000227825		"""Solute carriers"""	32679	pseudogene	pseudogene			"""solute carrier family 9 (sodium/hydrogen exchanger), member 7 pseudogene 1"""				Standard	NR_033801		Approved		uc009ztm.2		OTTHUMG00000170629		12.37:g.98849305C>G								NR_033801.1						0	1618	-									RNA	SNP	ENST00000554295.1	37																																																																																						0.512	SLC9A7P1-002	PUTATIVE	basic	processed_transcript	pseudogene	OTTHUMT00000409869.1			3	9	0	0	0	1	0	3	9				
BICD2	23299	broad.mit.edu	37	9	95491374	95491374	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6IF-01A-11D-A31L-08	TCGA-QK-A6IF-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80841ea-55be-4fc9-9353-604846afea4b	670a32a1-f498-40b8-96cc-ad24ebe37796	g.chr9:95491374G>A	ENST00000375512.3	-	2	452	c.385C>T	c.(385-387)Cgc>Tgc	p.R129C	BICD2_ENST00000356884.6_Missense_Mutation_p.R129C	NM_015250.3	NP_056065.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	129					cell death (GO:0008219)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase binding (GO:0017137)			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						AGGACATTGCGCAACTGCTTC	0.632																																						ENST00000356884.6																			0				cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(385-387)Cgc>Tgc		bicaudal D homolog 2 (Drosophila)							156.0	107.0	124.0					9																	95491374		2203	4300	6503	SO:0001583	missense	23299				microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding	g.chr9:95491374G>A	AB014599	CCDS6700.1, CCDS35064.1	9q22.32	2008-02-05			ENSG00000185963	ENSG00000185963			17208	protein-coding gene	gene with protein product		609797				9734811	Standard	NM_001003800		Approved	KIAA0699	uc004asp.1	Q8TD16	OTTHUMG00000021036	ENST00000375512.3:c.385C>T	9.37:g.95491374G>A	ENSP00000364662:p.Arg129Cys					BICD2_ENST00000375512.3_Missense_Mutation_p.R129C	p.R129C	NM_001003800.1	NP_001003800.1	Q8TD16	BICD2_HUMAN			2	452	-			129					O75181|Q5TBQ2|Q5TBQ3|Q96LH2|Q9BT84|Q9H561	Missense_Mutation	SNP	ENST00000375512.3	37	c.385C>T	CCDS6700.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.538200	0.85917	.	.	ENSG00000185963	ENST00000356884;ENST00000375512	T;T	0.56611	0.45;0.45	5.37	4.41	0.53225	.	0.058908	0.64402	D	0.000005	T	0.63010	0.2475	M	0.67397	2.05	0.51767	D	0.999934	D;D	0.71674	0.998;0.995	P;P	0.57679	0.804;0.825	T	0.65973	-0.6038	10	0.72032	D	0.01	-25.5071	10.8209	0.46604	0.0:0.0:0.7026:0.2973	.	129;129	Q8TD16-2;Q8TD16	.;BICD2_HUMAN	C	129	ENSP00000349351:R129C;ENSP00000364662:R129C	ENSP00000349351:R129C	R	-	1	0	BICD2	94531195	0.976000	0.34144	1.000000	0.80357	0.969000	0.65631	2.540000	0.45727	2.684000	0.91462	0.655000	0.94253	CGC		0.632	BICD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055508.1	NM_015250		4	61	0	0	0	1	0	4	61				
ABO	28	broad.mit.edu	37	9	136131236	136131236	+	RNA	SNP	G	G	A			TCGA-QK-A6IF-01A-11D-A31L-08	TCGA-QK-A6IF-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80841ea-55be-4fc9-9353-604846afea4b	670a32a1-f498-40b8-96cc-ad24ebe37796	g.chr9:136131236G>A	ENST00000453660.2	-	0	892				RP11-430N14.4_ENST00000606717.1_RNA			P16442	BGAT_HUMAN	ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)						protein glycosylation (GO:0006486)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	fucosylgalactoside 3-alpha-galactosyltransferase activity (GO:0004381)|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity (GO:0004380)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2)	11				OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)		CCTCGATGCCGTTGGCCTGGT	0.642																																						ENST00000453660.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2)	11								ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)							52.0	60.0	57.0					9																	136131236		2120	4214	6334			28				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	fucosylgalactoside 3-alpha-galactosyltransferase activity|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity|metal ion binding	g.chr9:136131236G>A	AF134415		9q34.2	2014-07-19			ENSG00000175164	ENSG00000175164	2.4.1.40, 2.4.1.37	"""Blood group antigens"", ""Glycosyltransferase family 6 domain containing"""	79	protein-coding gene	gene with protein product		110300				184030	Standard	NM_020469		Approved	A3GALNT, A3GALT1	uc004cda.1	P16442	OTTHUMG00000020872		9.37:g.136131236G>A										P16442	BGAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)	0	892	-								B0JDB9|O14758|Q14490|Q53I57|Q6ISD4|Q6KFZ2|Q70V27|Q99484|Q99485|Q9NY01|Q9UQ68|Q9UQ69	RNA	SNP	ENST00000453660.2	37																																																																																						0.642	ABO-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000054907.4	NM_020469		15	47	0	0	0	1	0	15	47				
OSBPL6	114880	broad.mit.edu	37	2	179238641	179238641	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6IF-01A-11D-A31L-08	TCGA-QK-A6IF-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80841ea-55be-4fc9-9353-604846afea4b	670a32a1-f498-40b8-96cc-ad24ebe37796	g.chr2:179238641C>T	ENST00000190611.4	+	15	1796	c.1420C>T	c.(1420-1422)Ctc>Ttc	p.L474F	OSBPL6_ENST00000357080.4_Missense_Mutation_p.L407F|OSBPL6_ENST00000409631.1_Missense_Mutation_p.L438F|OSBPL6_ENST00000392505.2_Missense_Mutation_p.L499F|OSBPL6_ENST00000359685.3_Missense_Mutation_p.L438F|OSBPL6_ENST00000409045.3_Missense_Mutation_p.L443F|OSBPL6_ENST00000315022.2_Missense_Mutation_p.L478F	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	474					lipid transport (GO:0006869)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			CCATGTCAGTCTCCCCTTATC	0.463																																						ENST00000190611.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(1420-1422)Ctc>Ttc		oxysterol binding protein-like 6							102.0	89.0	93.0					2																	179238641		2203	4300	6503	SO:0001583	missense	114880				lipid transport		lipid binding	g.chr2:179238641C>T	AF392448	CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1	2q32.1	2008-05-27			ENSG00000079156	ENSG00000079156		"""Oxysterol binding proteins"""	16388	protein-coding gene	gene with protein product	"""OSBP-related protein 6"""	606734				11483621	Standard	NM_001201480		Approved	ORP6	uc002uly.3	Q9BZF3	OTTHUMG00000132579	ENST00000190611.4:c.1420C>T	2.37:g.179238641C>T	ENSP00000190611:p.Leu474Phe					OSBPL6_ENST00000315022.2_Missense_Mutation_p.L478F|OSBPL6_ENST00000409631.1_Missense_Mutation_p.L438F|OSBPL6_ENST00000409045.3_Missense_Mutation_p.L443F|OSBPL6_ENST00000392505.2_Missense_Mutation_p.L499F|OSBPL6_ENST00000359685.3_Missense_Mutation_p.L438F|OSBPL6_ENST00000357080.4_Missense_Mutation_p.L407F	p.L474F	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)		15	1796	+			474					B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Missense_Mutation	SNP	ENST00000190611.4	37	c.1420C>T	CCDS2277.1	.	.	.	.	.	.	.	.	.	.	C	12.56	1.975578	0.34848	.	.	ENSG00000079156	ENST00000392505;ENST00000359685;ENST00000357080;ENST00000409045;ENST00000190611;ENST00000409631;ENST00000315022	T;T;T;T;T;T;T	0.13538	2.69;2.64;2.58;2.7;2.7;2.64;2.69	5.92	5.92	0.95590	.	0.135096	0.49916	D	0.000134	T	0.22475	0.0542	L	0.36672	1.1	0.47949	D	0.999558	P;D;P;D;P;D	0.59767	0.693;0.974;0.944;0.974;0.933;0.986	B;P;P;P;B;P	0.56278	0.443;0.795;0.624;0.795;0.441;0.711	T	0.00081	-1.2107	10	0.54805	T	0.06	-10.1877	13.9335	0.64010	0.0:0.9221:0.0:0.0779	.	443;478;438;499;474;407	Q9BZF3-4;Q9BZF3-3;Q9BZF3-2;Q9BZF3-5;Q9BZF3;Q86V84	.;.;.;.;OSBL6_HUMAN;.	F	499;438;407;443;474;438;478	ENSP00000376293:L499F;ENSP00000352713:L438F;ENSP00000349591:L407F;ENSP00000387248:L443F;ENSP00000190611:L474F;ENSP00000386885:L438F;ENSP00000318723:L478F	ENSP00000190611:L474F	L	+	1	0	OSBPL6	178946887	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.015000	0.49599	2.818000	0.97014	0.655000	0.94253	CTC		0.463	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334393.2	NM_032523		3	32	0	0	0	1	0	3	32				
TPTE2P6	374491	broad.mit.edu	37	13	25161397	25161397	+	RNA	SNP	C	C	G	rs3874227	byFrequency	TCGA-QK-A6IF-01A-11D-A31L-08	TCGA-QK-A6IF-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80841ea-55be-4fc9-9353-604846afea4b	670a32a1-f498-40b8-96cc-ad24ebe37796	g.chr13:25161397C>G	ENST00000453498.1	+	0	921				TPTE2P6_ENST00000440905.1_RNA																							TGAAACATCTCTACAACTGGA	0.343																																						ENST00000453498.1																			0																																																			374491							g.chr13:25161397C>G																													13.37:g.25161397C>G														0	921	+									RNA	SNP	ENST00000453498.1	37																																																																																						0.343	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000044193.1			6	26	0	0	0	1	0	6	26				
AJAP1	55966	broad.mit.edu	37	1	4829945	4829945	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6IF-01A-11D-A31L-08	TCGA-QK-A6IF-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80841ea-55be-4fc9-9353-604846afea4b	670a32a1-f498-40b8-96cc-ad24ebe37796	g.chr1:4829945G>A	ENST00000378191.4	+	3	1243	c.862G>A	c.(862-864)Gtc>Atc	p.V288I	AJAP1_ENST00000378190.3_Missense_Mutation_p.V288I	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	288					cell adhesion (GO:0007155)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		CACCATCACCGTCTCCCTCAT	0.547																																						ENST00000378191.4																			0				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24						c.(862-864)Gtc>Atc		adherens junctions associated protein 1							222.0	204.0	210.0					1																	4829945		2203	4300	6503	SO:0001583	missense	55966				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane		g.chr1:4829945G>A	AF175409	CCDS54.1	1p36.32	2008-02-05	2008-01-08		ENSG00000196581	ENSG00000196581			30801	protein-coding gene	gene with protein product	"""transmembrane protein SHREW1"""	610972				14595118	Standard	NM_001042478		Approved	SHREW1, SHREW-1, MOT8	uc001aln.3	Q9UKB5	OTTHUMG00000000645	ENST00000378191.4:c.862G>A	1.37:g.4829945G>A	ENSP00000367433:p.Val288Ile					AJAP1_ENST00000378190.3_Missense_Mutation_p.V288I	p.V288I	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)	3	1243	+	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)	288					Q9Y229	Missense_Mutation	SNP	ENST00000378191.4	37	c.862G>A	CCDS54.1	.	.	.	.	.	.	.	.	.	.	G	14.69	2.609235	0.46527	.	.	ENSG00000196581	ENST00000378190;ENST00000378191	T;T	0.48201	0.82;0.82	5.49	4.58	0.56647	.	0.000000	0.85682	D	0.000000	T	0.54078	0.1836	L	0.27053	0.805	0.47276	D	0.999374	D	0.89917	1.0	D	0.69654	0.965	T	0.57883	-0.7734	10	0.62326	D	0.03	-39.2983	13.4665	0.61256	0.076:0.0:0.924:0.0	.	288	Q9UKB5	AJAP1_HUMAN	I	288	ENSP00000367432:V288I;ENSP00000367433:V288I	ENSP00000367432:V288I	V	+	1	0	AJAP1	4729805	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.279000	0.78599	1.311000	0.45024	0.467000	0.42956	GTC		0.547	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001542.3	NM_018836		5	154	0	0	0	1	0	5	154				
ORAI3	93129	broad.mit.edu	37	16	30960832	30960832	+	Silent	SNP	C	C	T			TCGA-QK-A6IF-01A-11D-A31L-08	TCGA-QK-A6IF-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80841ea-55be-4fc9-9353-604846afea4b	670a32a1-f498-40b8-96cc-ad24ebe37796	g.chr16:30960832C>T	ENST00000318663.4	+	1	446	c.222C>T	c.(220-222)ttC>ttT	p.F74F	ORAI3_ENST00000566237.1_Silent_p.F74F|ORAI3_ENST00000562699.1_Silent_p.F74F|AC135048.13_ENST00000566056.1_RNA	NM_152288.2	NP_689501.1	Q9BRQ5	ORAI3_HUMAN	ORAI calcium release-activated calcium modulator 3	74					store-operated calcium entry (GO:0002115)	integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6						TCTCGGGCTTCGCCATGGTGA	0.692																																						ENST00000318663.4																			0				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6						c.(220-222)ttC>ttT		ORAI calcium release-activated calcium modulator 3							7.0	8.0	7.0					16																	30960832		2015	4064	6079	SO:0001819	synonymous_variant	93129					integral to membrane	protein binding	g.chr16:30960832C>T	BC006126	CCDS10697.1	16p11.2	2007-08-14	2007-08-14	2007-08-14	ENSG00000175938	ENSG00000175938		"""ORAI calcium release-activated calcium modulators"""	28185	protein-coding gene	gene with protein product		610930	"""transmembrane protein 142C"""	TMEM142C		16582901	Standard	NM_152288		Approved	MGC13024	uc002eac.3	Q9BRQ5	OTTHUMG00000132409	ENST00000318663.4:c.222C>T	16.37:g.30960832C>T						ORAI3_ENST00000566237.1_Silent_p.F74F|ORAI3_ENST00000562699.1_Silent_p.F74F|AC135048.13_ENST00000566056.1_RNA	p.F74F	NM_152288.2	NP_689501.1	Q9BRQ5	ORAI3_HUMAN			1	446	+			74					Q96BI8	Silent	SNP	ENST00000318663.4	37	c.222C>T	CCDS10697.1																																																																																				0.692	ORAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255545.20	NM_152288		6	11	0	0	0	1	0	6	11				
TC2N	123036	broad.mit.edu	37	14	92266688	92266688	+	Silent	SNP	G	G	A			TCGA-QK-A6IF-01A-11D-A31L-08	TCGA-QK-A6IF-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80841ea-55be-4fc9-9353-604846afea4b	670a32a1-f498-40b8-96cc-ad24ebe37796	g.chr14:92266688G>A	ENST00000435962.2	-	5	821	c.498C>T	c.(496-498)ccC>ccT	p.P166P	TC2N_ENST00000556018.1_Silent_p.P166P|TC2N_ENST00000340892.5_Silent_p.P166P|TC2N_ENST00000360594.5_Silent_p.P166P	NM_001128596.1	NP_001122068	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	166					regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		CAGGGGAACCGGGAAGTTTGT	0.318																																						ENST00000435962.2																			0				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18						c.(496-498)ccC>ccT		tandem C2 domains, nuclear							49.0	47.0	47.0					14																	92266688		2202	4300	6502	SO:0001819	synonymous_variant	123036					nucleus		g.chr14:92266688G>A	AA243837	CCDS9897.1, CCDS73679.1	14q32.12	2007-10-17	2007-08-17	2007-08-17		ENSG00000165929			19859	protein-coding gene	gene with protein product	"""C2 calcium-dependent domain containing 1"""		"""chromosome 14 open reading frame 47"", ""membrane targeting (tandem) C2 domain containing 1"""	C14orf47, MTAC2D1		11526914	Standard	NM_001128596		Approved	FLJ36557, Tac2-N, C2CD1	uc001xzt.4	Q8N9U0		ENST00000435962.2:c.498C>T	14.37:g.92266688G>A						TC2N_ENST00000360594.5_Silent_p.P166P|TC2N_ENST00000556018.1_Silent_p.P166P|TC2N_ENST00000340892.5_Silent_p.P166P	p.P166P	NM_001128596.1	NP_001122068.1	Q8N9U0	TAC2N_HUMAN		COAD - Colon adenocarcinoma(157;0.218)	5	821	-			166						Silent	SNP	ENST00000435962.2	37	c.498C>T	CCDS9897.1																																																																																				0.318	TC2N-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411778.1	NM_152332		3	34	0	0	0	1	0	3	34				
INO80	54617	broad.mit.edu	37	15	41372017	41372017	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6IF-01A-11D-A31L-08	TCGA-QK-A6IF-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80841ea-55be-4fc9-9353-604846afea4b	670a32a1-f498-40b8-96cc-ad24ebe37796	g.chr15:41372017C>T	ENST00000361937.3	-	9	1437	c.1013G>A	c.(1012-1014)cGc>cAc	p.R338H	INO80_ENST00000401393.3_Missense_Mutation_p.R338H			Q9ULG1	INO80_HUMAN	INO80 complex subunit	338	Assembles INO80 complex module consisting of conserved components ACTR8, ACTL6A and YY1.|DBINO. {ECO:0000255|PROSITE- ProRule:PRU00746}.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CTTGGTGAGGCGGCGGGCACG	0.527																																						ENST00000361937.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(1012-1014)cGc>cAc		INO80 complex subunit							157.0	164.0	162.0					15																	41372017		2203	4300	6503	SO:0001583	missense	54617				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity	g.chr15:41372017C>T	AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"""INO80 complex subunits"""	26956	protein-coding gene	gene with protein product	"""INO80 complex subunit A"""	610169	"""INO80 complex homolog 1 (S. cerevisiae)"", ""INO80 homolog (S. cerevisiae)"""	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.1013G>A	15.37:g.41372017C>T	ENSP00000355205:p.Arg338His					INO80_ENST00000401393.3_Missense_Mutation_p.R338H	p.R338H			Q9ULG1	INO80_HUMAN			9	1437	-			338			Assembles INO80 complex module consisting of conserved components ACTR8, ACTL6A and YY1.|DBINO.		A6H8X4|Q9NTG6	Missense_Mutation	SNP	ENST00000361937.3	37	c.1013G>A	CCDS10071.1	.	.	.	.	.	.	.	.	.	.	C	14.42	2.529147	0.44969	.	.	ENSG00000128908	ENST00000361937;ENST00000401393	D;D	0.95137	-3.62;-3.62	4.91	4.91	0.64330	DNA binding domain, INO80 (1);	0.000000	0.85682	D	0.000000	D	0.97123	0.9060	M	0.80847	2.515	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.97652	1.0155	10	0.87932	D	0	.	16.4549	0.84009	0.0:1.0:0.0:0.0	.	338	Q9ULG1	INO80_HUMAN	H	338	ENSP00000355205:R338H;ENSP00000384686:R338H	ENSP00000355205:R338H	R	-	2	0	INO80	39159309	1.000000	0.71417	1.000000	0.80357	0.118000	0.20060	7.430000	0.80321	2.566000	0.86566	0.467000	0.42956	CGC		0.527	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252527.2	NM_017553		51	134	0	0	0	1	0	51	134				
HLA-A	3105	broad.mit.edu	37	6	29911150	29911150	+	Missense_Mutation	SNP	T	T	A	rs281864753		TCGA-QK-A6IF-01A-11D-A31L-08	TCGA-QK-A6IF-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80841ea-55be-4fc9-9353-604846afea4b	670a32a1-f498-40b8-96cc-ad24ebe37796	g.chr6:29911150T>A	ENST00000396634.1	+	5	790	c.449T>A	c.(448-450)cTg>cAg	p.L150Q	HLA-A_ENST00000376802.2_Missense_Mutation_p.L150Q|HLA-A_ENST00000376806.5_Missense_Mutation_p.L150Q|HLA-A_ENST00000376809.5_Missense_Mutation_p.L150Q			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	150	Alpha-2.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TACATCGCCCTGAACGAGGAC	0.647									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																												ENST00000396634.1																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						c.(448-450)cTg>cAg		major histocompatibility complex, class I, A							46.0	32.0	37.0					6																	29911150		1506	2707	4213	SO:0001583	missense	3105	Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29911150T>A	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.449T>A	6.37:g.29911150T>A	ENSP00000379873:p.Leu150Gln	Multiple Myeloma(9;0.094)				HLA-A_ENST00000376806.5_Missense_Mutation_p.L150Q|HLA-A_ENST00000376809.5_Missense_Mutation_p.L150Q|HLA-A_ENST00000376802.2_Missense_Mutation_p.L150Q	p.L150Q			P30443	1A01_HUMAN			5	790	+			150			Alpha-2.		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Missense_Mutation	SNP	ENST00000396634.1	37	c.449T>A	CCDS34373.1	.	.	.	.	.	.	.	.	.	.	.	13.11	2.140691	0.37825	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809;ENST00000376802	T;T;T;T	0.01252	5.1;5.1;5.1;5.1	3.77	3.77	0.43336	MHC class I, alpha chain, alpha1/alpha2 (8);MHC classes I/II-like antigen recognition protein (4);MHC class I-like antigen recognition (4);	0.296234	0.17803	U	0.161488	T	0.17492	0.0420	H	0.99999	5.82	0.29766	N	0.835125	D;D;D;D;D;D;D	0.89917	0.998;0.965;1.0;0.965;1.0;0.965;0.965	D;D;D;D;D;D;D	0.97110	0.995;0.958;1.0;0.958;1.0;0.958;0.958	T	0.60058	-0.7337	10	0.87932	D	0	.	10.7997	0.46480	0.0:0.0:0.0:1.0	.	29;150;150;150;150;150;150	B4DVB9;P13746;Q5SRN7;P16188;Q5SRN5;P30455;P04439	.;1A11_HUMAN;.;1A30_HUMAN;.;1A36_HUMAN;1A03_HUMAN	Q	150	ENSP00000379873:L150Q;ENSP00000366002:L150Q;ENSP00000366005:L150Q;ENSP00000365998:L150Q	ENSP00000365998:L150Q	L	+	2	0	HLA-A	30019129	0.085000	0.21516	0.971000	0.41717	0.100000	0.18952	2.081000	0.41596	1.706000	0.51276	0.392000	0.25879	CTG		0.647	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		5	11	0	0	0	1	0	5	11				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-QK-A6IF-01A-11D-A31L-08	TCGA-QK-A6IF-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80841ea-55be-4fc9-9353-604846afea4b	670a32a1-f498-40b8-96cc-ad24ebe37796	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			158160							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		3	38	0	0	0	1	0	3	38				
MUC17	140453	broad.mit.edu	37	7	100678383	100678383	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6IF-01A-11D-A31L-08	TCGA-QK-A6IF-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80841ea-55be-4fc9-9353-604846afea4b	670a32a1-f498-40b8-96cc-ad24ebe37796	g.chr7:100678383C>T	ENST00000306151.4	+	3	3750	c.3686C>T	c.(3685-3687)aCg>aTg	p.T1229M		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1229	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GTCAGACACACGCCAGTGGCC	0.522																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(3685-3687)aCg>aTg		mucin 17, cell surface associated							313.0	295.0	301.0					7																	100678383		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100678383C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.3686C>T	7.37:g.100678383C>T	ENSP00000302716:p.Thr1229Met						p.T1229M	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	3750	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1229			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.3686C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.985012	0.00443	.	.	ENSG00000169876	ENST00000306151	T	0.02525	4.26	0.373	-0.746	0.11095	.	.	.	.	.	T	0.02119	0.0066	L	0.29908	0.895	0.09310	N	1	B	0.17667	0.023	B	0.04013	0.001	T	0.50398	-0.8833	8	0.59425	D	0.04	.	.	.	.	.	1229	Q685J3	MUC17_HUMAN	M	1229	ENSP00000302716:T1229M	ENSP00000302716:T1229M	T	+	2	0	MUC17	100465103	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.181000	0.09740	-4.074000	0.00076	-3.848000	0.00018	ACG		0.522	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		109	287	0	0	0	1	0	109	287				
PTTG1IP	754	broad.mit.edu	37	21	46276126	46276126	+	Missense_Mutation	SNP	C	C	T	rs143122508	byFrequency	TCGA-QK-A6IF-01A-11D-A31L-08	TCGA-QK-A6IF-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80841ea-55be-4fc9-9353-604846afea4b	670a32a1-f498-40b8-96cc-ad24ebe37796	g.chr21:46276126C>T	ENST00000330938.3	-	4	651	c.431G>A	c.(430-432)cGg>cAg	p.R144Q	PTTG1IP_ENST00000397886.3_Missense_Mutation_p.R123Q|PTTG1IP_ENST00000445724.2_Intron|PTTG1IP_ENST00000494690.1_5'UTR|PTTG1IP_ENST00000397887.3_Intron	NM_004339.3	NP_004330.1	P53801	PTTG_HUMAN	pituitary tumor-transforming 1 interacting protein	144					multicellular organismal development (GO:0007275)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	receptor activity (GO:0004872)			ovary(1)|prostate(1)	2				Colorectal(79;0.0659)		CTGCCGTATCCGCCTCTCCTC	0.597													C|||	4	0.000798722	0.0023	0.0014	5008	,	,		17821	0.0		0.0	False		,,,				2504	0.0					ENST00000330938.3																			0				ovary(1)|prostate(1)	2						c.(430-432)cGg>cAg		pituitary tumor-transforming 1 interacting protein		C	GLN/ARG	0,4406		0,0,2203	219.0	155.0	176.0		431	2.6	0.0	21	dbSNP_134	176	2,8598	2.2+/-6.3	0,2,4298	no	missense	PTTG1IP	NM_004339.3	43	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	144/181	46276126	2,13004	2203	4300	6503	SO:0001583	missense	754				protein import into nucleus	cytoplasm|integral to membrane|nucleus		g.chr21:46276126C>T	AF149785	CCDS13715.1, CCDS68221.1	21q22.3	2008-07-04			ENSG00000183255	ENSG00000183255			13524	protein-coding gene	gene with protein product		603784		C21orf3, C21orf1		9570958, 10830953	Standard	NM_004339		Approved	PBF	uc002zgb.2	P53801	OTTHUMG00000090254	ENST00000330938.3:c.431G>A	21.37:g.46276126C>T	ENSP00000328325:p.Arg144Gln					PTTG1IP_ENST00000494690.1_5'UTR|PTTG1IP_ENST00000445724.2_Intron|PTTG1IP_ENST00000397887.3_Intron|PTTG1IP_ENST00000397886.3_Missense_Mutation_p.R123Q	p.R144Q	NM_004339.3	NP_004330.1	P53801	PTTG_HUMAN		Colorectal(79;0.0659)	4	651	-			144					B2RDP7|D3DSL9|Q9NS09	Missense_Mutation	SNP	ENST00000330938.3	37	c.431G>A	CCDS13715.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	15.98	2.993842	0.54041	0.0	2.33E-4	ENSG00000183255	ENST00000330938;ENST00000397886	T;T	0.55052	0.54;0.54	4.85	2.6	0.31112	.	0.117908	0.53938	D	0.000041	T	0.60379	0.2264	M	0.65975	2.015	0.09310	N	1	D	0.76494	0.999	P	0.58172	0.834	T	0.51076	-0.8751	10	0.62326	D	0.03	-35.2442	7.5288	0.27671	0.0:0.7397:0.0:0.2603	.	144	P53801	PTTG_HUMAN	Q	144;123	ENSP00000328325:R144Q;ENSP00000380983:R123Q	ENSP00000328325:R144Q	R	-	2	0	PTTG1IP	45100554	0.154000	0.22792	0.003000	0.11579	0.774000	0.43823	1.109000	0.31135	1.160000	0.42584	0.579000	0.79373	CGG		0.597	PTTG1IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206553.1			33	80	0	0	0	1	0	33	80				
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs561841139		TCGA-QK-A6IF-01A-11D-A31L-08	TCGA-QK-A6IF-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80841ea-55be-4fc9-9353-604846afea4b	670a32a1-f498-40b8-96cc-ad24ebe37796	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2									p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328																																						ENST00000564580.1																			25	Substitution - Missense(25)	p.W375R(25)	endometrium(19)|kidney(4)|prostate(2)																																																653390							g.chr16:29110458T>C			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110458T>C														0	1131	+									RNA	SNP	ENST00000564580.1	37			.	.	.	.	.	.	.	.	.	.	N	5.632	0.301362	0.10678	.	.	ENSG00000103472	ENST00000427965	.	.	.	1.93	1.93	0.25924	.	0.000000	0.64402	N	0.000001	T	0.11239	0.0274	.	.	.	.	.	.	.	.	.	.	.	.	T	0.29701	-1.0003	5	0.02654	T	1	.	2.7527	0.05285	0.2724:0.5536:0.0:0.174	.	.	.	.	R	375	.	ENSP00000398611:W375R	W	+	1	0	AC009093.1	29017959	1.000000	0.71417	0.564000	0.28396	0.423000	0.31445	3.439000	0.52878	0.163000	0.19507	-1.160000	0.01791	TGG		0.328	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	NR_003369		4	39	0	0	0	1	0	4	39				
ZNF788	388507	broad.mit.edu	37	19	12221164	12221164	+	5'UTR	SNP	C	C	T	rs547816440		TCGA-QK-A6IF-01A-11D-A31L-08	TCGA-QK-A6IF-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80841ea-55be-4fc9-9353-604846afea4b	670a32a1-f498-40b8-96cc-ad24ebe37796	g.chr19:12221164C>T	ENST00000339302.4	+	0	253				ZNF788_ENST00000397759.3_5'Flank|ZNF788_ENST00000596883.1_Silent_p.D36D|ZNF20_ENST00000600335.1_Intron|ZNF788_ENST00000430298.2_Silent_p.D16D			Q6ZQV5	ZN788_HUMAN	zinc finger family member 788						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	2						TCACCCCAGACGAGTGGGCTT	0.473													.|||	1	0.000199681	0.0008	0.0	5008	,	,		18718	0.0		0.0	False		,,,				2504	0.0				Melanoma(116;440 1644 18510 25456 49479)	ENST00000430298.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	2						c.(46-48)gaC>gaT		zinc finger family member 788																																				SO:0001623	5_prime_UTR_variant	388507							g.chr19:12221164C>T	AI566055		19p13.2	2013-01-08	2006-08-16		ENSG00000214189	ENSG00000214189		"""Zinc fingers, C2H2-type"""	33112	protein-coding gene	gene with protein product							Standard	NR_027049		Approved	FLJ46419	uc002mtd.3	Q6ZQV5	OTTHUMG00000156416	ENST00000339302.4:c.-385C>T	19.37:g.12221164C>T						ZNF788_ENST00000596883.1_Silent_p.D36D|ZNF788_ENST00000339302.4_5'UTR|ZNF20_ENST00000600335.1_Intron	p.D16D							2	253	+								Q6ZRE4	Silent	SNP	ENST00000339302.4	37	c.48C>T																																																																																					0.473	ZNF788-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_930581		30	47	0	0	0	1	0	30	47				
ZNF799	90576	broad.mit.edu	37	19	12502748	12502748	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6IF-01A-11D-A31L-08	TCGA-QK-A6IF-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80841ea-55be-4fc9-9353-604846afea4b	670a32a1-f498-40b8-96cc-ad24ebe37796	g.chr19:12502748G>A	ENST00000430385.3	-	4	664	c.464C>T	c.(463-465)tCa>tTa	p.S155L	ZNF799_ENST00000419318.1_Missense_Mutation_p.S123L|CTD-3105H18.14_ENST00000435033.1_Intron	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	155					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TGTTTGAAGTGAGTTGTGGTA	0.423																																						ENST00000419318.1																			0				breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						c.(367-369)tCa>tTa		zinc finger protein 799							186.0	173.0	177.0					19																	12502748		2203	4300	6503	SO:0001583	missense	90576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12502748G>A	BC009517	CCDS45989.1	19p13.2	2013-01-08			ENSG00000196466	ENSG00000196466		"""Zinc fingers, C2H2-type"", ""-"""	28071	protein-coding gene	gene with protein product			"""zinc finger protein 842"""	ZNF842			Standard	NM_001080821		Approved	HIT-40, MGC71805	uc002mts.4	Q96GE5	OTTHUMG00000156408	ENST00000430385.3:c.464C>T	19.37:g.12502748G>A	ENSP00000411084:p.Ser155Leu					ZNF799_ENST00000430385.3_Missense_Mutation_p.S155L|CTD-3105H18.14_ENST00000435033.1_Intron	p.S123L			Q96GE5	ZN799_HUMAN			4	1117	-			155						Missense_Mutation	SNP	ENST00000430385.3	37	c.368C>T	CCDS45989.1	.	.	.	.	.	.	.	.	.	.	G	12.69	2.013732	0.35511	.	.	ENSG00000196466	ENST00000419318;ENST00000430385	T;T	0.07444	3.19;3.19	1.2	-2.05	0.07321	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09069	0.0224	L	0.45228	1.405	0.09310	N	1	P	0.50066	0.931	P	0.49799	0.622	T	0.21075	-1.0256	9	0.33141	T	0.24	.	3.6166	0.08079	0.0:0.2359:0.291:0.473	.	155	Q96GE5	ZN799_HUMAN	L	123;155	ENSP00000415278:S123L;ENSP00000411084:S155L	ENSP00000415278:S123L	S	-	2	0	ZNF799	12363748	0.000000	0.05858	0.000000	0.03702	0.084000	0.17831	-2.247000	0.01190	-0.467000	0.06932	0.430000	0.28490	TCA		0.423	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344099.2	NM_001080821		40	64	0	0	0	1	0	40	64				
CDK15	65061	broad.mit.edu	37	2	202687545	202687545	+	Silent	SNP	G	G	A			TCGA-QK-A6IF-01A-11D-A31L-08	TCGA-QK-A6IF-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80841ea-55be-4fc9-9353-604846afea4b	670a32a1-f498-40b8-96cc-ad24ebe37796	g.chr2:202687545G>A	ENST00000374598.4	+	5	462	c.462G>A	c.(460-462)aaG>aaA	p.K154K	CDK15_ENST00000450471.2_Silent_p.K154K|CDK15_ENST00000488419.1_3'UTR|CDK15_ENST00000434439.1_Silent_p.K154K|CDK15_ENST00000260967.2_Silent_p.K103K|CDK15_ENST00000410091.3_Silent_p.K103K			Q96Q40	CDK15_HUMAN	cyclin-dependent kinase 15	154	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|metal ion binding (GO:0046872)			breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1)	26					Adenosine triphosphate(DB00171)	CTCTCCTGAAGGGTTTGAAAC	0.348																																						ENST00000450471.2																			0				breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1)	26						c.(460-462)aaG>aaA		cyclin-dependent kinase 15	Adenosine triphosphate(DB00171)						148.0	144.0	145.0					2																	202687545		2203	4300	6503	SO:0001819	synonymous_variant	65061						ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding	g.chr2:202687545G>A	AB053308	CCDS2350.1, CCDS58746.1, CCDS58747.1	2q33.2	2011-11-08	2009-12-16	2009-12-16	ENSG00000138395	ENSG00000138395		"""Cyclin-dependent kinases"""	14434	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 7"", ""PFTAIRE protein kinase 2"""	ALS2CR7, PFTK2		11586298, 16236519, 19884882	Standard	NM_139158		Approved	PFTAIRE2	uc002uyt.3	Q96Q40	OTTHUMG00000132838	ENST00000374598.4:c.462G>A	2.37:g.202687545G>A						CDK15_ENST00000260967.2_Silent_p.K103K|CDK15_ENST00000374598.4_Silent_p.K154K|CDK15_ENST00000488419.1_3'UTR|CDK15_ENST00000434439.1_Silent_p.K154K|CDK15_ENST00000410091.3_Silent_p.K103K	p.K154K	NM_001261435.1	NP_001248364.1	Q96Q40	CDK15_HUMAN			5	548	+			154			Protein kinase.		A8K8R9|B8ZZX0|C9J1N8|C9K003|F8W6H8|Q4ZG86|Q53TV1|Q6ZMR9|Q8IUP1	Silent	SNP	ENST00000374598.4	37	c.462G>A																																																																																					0.348	CDK15-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000336053.2			33	28	0	0	0	1	0	33	28				
ADAMTS9	56999	broad.mit.edu	37	3	64527080	64527080	+	Missense_Mutation	SNP	G	G	A	rs200398762		TCGA-QK-A6IF-01A-11D-A31L-08	TCGA-QK-A6IF-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80841ea-55be-4fc9-9353-604846afea4b	670a32a1-f498-40b8-96cc-ad24ebe37796	g.chr3:64527080G>A	ENST00000498707.1	-	35	5645	c.5303C>T	c.(5302-5304)gCg>gTg	p.A1768V	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.A1740V	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1768	GON. {ECO:0000255|PROSITE- ProRule:PRU00383}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		GTGCATCCCCGCACAGAATAT	0.463																																						ENST00000498707.1																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100						c.(5302-5304)gCg>gTg		ADAM metallopeptidase with thrombospondin type 1 motif, 9		G	VAL/ALA	0,4406		0,0,2203	126.0	131.0	129.0		5303	5.8	1.0	3		129	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ADAMTS9	NM_182920.1	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	1768/1936	64527080	1,13005	2203	4300	6503	SO:0001583	missense	56999				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr3:64527080G>A	AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.5303C>T	3.37:g.64527080G>A	ENSP00000418735:p.Ala1768Val					ADAMTS9_ENST00000295903.4_Missense_Mutation_p.A1740V	p.A1768V	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)	35	5645	-		Lung NSC(201;0.00682)	1768			GON.		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	ENST00000498707.1	37	c.5303C>T	CCDS2903.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.225799|5.225799	0.95173|0.95173	0.0|0.0	1.16E-4|1.16E-4	ENSG00000163638|ENSG00000163638	ENST00000295903;ENST00000498707|ENST00000481060	T;T|.	0.18810|.	2.19;2.19|.	5.75|5.75	5.75|5.75	0.90469|0.90469	Peptidase M12B, GON-ADAMTSs (2);|.	0.061316|.	0.64402|.	D|.	0.000005|.	T|T	0.76666|0.76666	0.4019|0.4019	M|M	0.69823|0.69823	2.125|2.125	0.80722|0.80722	D|D	1|1	P;P|.	0.41345|.	0.746;0.746|.	P;P|.	0.46850|.	0.529;0.473|.	T|T	0.74393|0.74393	-0.3680|-0.3680	10|5	0.41790|.	T|.	0.15|.	.|.	19.942|19.942	0.97168|0.97168	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1740;1768|.	B7ZVX9;Q9P2N4|.	.;ATS9_HUMAN|.	V|W	1740;1768|824	ENSP00000295903:A1740V;ENSP00000418735:A1768V|.	ENSP00000295903:A1740V|.	A|R	-|-	2|1	0|2	ADAMTS9|ADAMTS9	64502120|64502120	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.897000|0.897000	0.52465|0.52465	7.126000|7.126000	0.77201|0.77201	2.714000|2.714000	0.92807|0.92807	0.561000|0.561000	0.74099|0.74099	GCG|CGG		0.463	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1			4	114	0	0	0	1	0	4	114				
SPDL1	54908	broad.mit.edu	37	5	169015518	169015518	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6IF-01A-11D-A31L-08	TCGA-QK-A6IF-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80841ea-55be-4fc9-9353-604846afea4b	670a32a1-f498-40b8-96cc-ad24ebe37796	g.chr5:169015518G>A	ENST00000265295.4	+	2	377	c.98G>A	c.(97-99)aGt>aAt	p.S33N	SPDL1_ENST00000510751.1_3'UTR	NM_017785.4	NP_060255.3			spindle apparatus coiled-coil protein 1																		CTAGTAGAGAGTCAAAATGAA	0.408																																						ENST00000265295.4																			0											c.(97-99)aGt>aAt		spindle apparatus coiled-coil protein 1							108.0	104.0	105.0					5																	169015518		2203	4300	6503	SO:0001583	missense	54908							g.chr5:169015518G>A	BC012568	CCDS4370.1	5q35.1	2012-09-27	2012-09-27	2012-09-27	ENSG00000040275	ENSG00000040275			26010	protein-coding gene	gene with protein product	"""spindly homolog (Drosophila)"""		"""coiled-coil domain containing 99"""	CCDC99		20427577	Standard	NM_017785		Approved	FLJ20364, hSpindly	uc003mae.4	Q96EA4	OTTHUMG00000130438	ENST00000265295.4:c.98G>A	5.37:g.169015518G>A	ENSP00000265295:p.Ser33Asn					SPDL1_ENST00000510751.1_3'UTR	p.S33N	NM_017785.4	NP_060255.3					2	377	+									Missense_Mutation	SNP	ENST00000265295.4	37	c.98G>A	CCDS4370.1	.	.	.	.	.	.	.	.	.	.	G	12.80	2.045970	0.36085	.	.	ENSG00000040275	ENST00000265295;ENST00000274631;ENST00000506574;ENST00000515224;ENST00000508247;ENST00000513941;ENST00000513795	T	0.34667	1.35	5.51	5.51	0.81932	.	0.261099	0.46442	D	0.000300	T	0.33147	0.0853	L	0.58101	1.795	0.26259	N	0.978603	B	0.27351	0.176	B	0.26202	0.067	T	0.16928	-1.0386	10	0.30078	T	0.28	-4.9005	10.287	0.43573	0.0756:0.1475:0.7769:0.0	.	33	Q96EA4	SPDLY_HUMAN	N	33	ENSP00000265295:S33N	ENSP00000265295:S33N	S	+	2	0	CCDC99	168948096	1.000000	0.71417	0.994000	0.49952	0.059000	0.15707	3.249000	0.51437	2.750000	0.94351	0.655000	0.94253	AGT		0.408	SPDL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252829.2	NM_017785		20	38	0	0	0	1	0	20	38				
RALGAPA1	253959	broad.mit.edu	37	14	36190922	36190922	+	Silent	SNP	C	C	A	rs145761488	byFrequency	TCGA-QK-A6IF-01A-11D-A31L-08	TCGA-QK-A6IF-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80841ea-55be-4fc9-9353-604846afea4b	670a32a1-f498-40b8-96cc-ad24ebe37796	g.chr14:36190922C>A	ENST00000389698.3	-	16	2628	c.2238G>T	c.(2236-2238)gcG>gcT	p.A746A	RALGAPA1_ENST00000554704.1_5'UTR|RALGAPA1_ENST00000258840.6_Silent_p.A746A|RALGAPA1_ENST00000307138.6_Silent_p.A746A|RALGAPA1_ENST00000382366.3_Silent_p.A746A	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	746					activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CTATACTCCTCGCCTTTTCGG	0.443																																						ENST00000258840.6																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(2236-2238)gcG>gcT		Ral GTPase activating protein, alpha subunit 1 (catalytic)							161.0	149.0	153.0					14																	36190922		2203	4300	6503	SO:0001819	synonymous_variant	253959				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr14:36190922C>A	AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"""tuberin-like protein 1"", ""GAP-related interacting protein to E12"""	608884	"""GTPase activating RANGAP domain-like 1"", ""GTPase activating Rap/RanGAP domain-like 1"""	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.2238G>T	14.37:g.36190922C>A						RALGAPA1_ENST00000307138.6_Silent_p.A746A|RALGAPA1_ENST00000389698.3_Silent_p.A746A|RALGAPA1_ENST00000382366.3_Silent_p.A746A|RALGAPA1_ENST00000554704.1_5'UTR	p.A746A			Q6GYQ0	RGPA1_HUMAN			16	2628	-			746					A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Silent	SNP	ENST00000389698.3	37	c.2238G>T	CCDS32065.1																																																																																				0.443	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	XM_210022		4	106	1	0	0.00909568	1	0.00909568	4	106				
RAB17	64284	broad.mit.edu	37	2	238483701	238483701	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A6IF-01A-11D-A31L-08	TCGA-QK-A6IF-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80841ea-55be-4fc9-9353-604846afea4b	670a32a1-f498-40b8-96cc-ad24ebe37796	g.chr2:238483701G>T	ENST00000264601.3	-	6	1229	c.600C>A	c.(598-600)aaC>aaA	p.N200K	RAB17_ENST00000409822.1_Missense_Mutation_p.N73K|RAB17_ENST00000409576.1_Intron|RAB17_ENST00000538644.1_Missense_Mutation_p.N73K	NM_022449.3	NP_071894.1	Q9H0T7	RAB17_HUMAN	RAB17, member RAS oncogene family	200					cilium assembly (GO:0042384)|endocytic recycling (GO:0032456)|establishment of melanosome localization (GO:0032401)|filopodium assembly (GO:0046847)|GTP catabolic process (GO:0006184)|immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor (GO:0002415)|melanosome transport (GO:0032402)|protein transport (GO:0015031)|regulation of dendrite development (GO:0050773)|regulation of filopodium assembly (GO:0051489)|regulation of synapse assembly (GO:0051963)|small GTPase mediated signal transduction (GO:0007264)|transcytosis (GO:0045056)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|dendrite (GO:0030425)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|melanosome (GO:0042470)|neuronal cell body (GO:0043025)|recycling endosome (GO:0055037)|recycling endosome membrane (GO:0055038)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(1)	4		Renal(207;0.00272)|Breast(86;0.00297)|all_hematologic(139;0.182)|Ovarian(221;0.221)		Epithelial(121;9.36e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.26e-10)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000354)|Lung(119;0.011)|LUSC - Lung squamous cell carcinoma(224;0.026)		CGGGCCCCTTGTTCAGAGCCA	0.657																																					Colon(56;987 1029 6466 13943 27336)	ENST00000264601.3																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(1)	4						c.(598-600)aaC>aaA		RAB17, member RAS oncogene family							41.0	45.0	44.0					2																	238483701		2203	4300	6503	SO:0001583	missense	64284				protein transport|small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|protein binding	g.chr2:238483701G>T	AK022600	CCDS2520.1	2q37.3	2008-05-23			ENSG00000124839	ENSG00000124839		"""RAB, member RAS oncogene"""	16523	protein-coding gene	gene with protein product		602206				9624171	Standard	NM_022449		Approved		uc002vwz.2	Q9H0T7	OTTHUMG00000133299	ENST00000264601.3:c.600C>A	2.37:g.238483701G>T	ENSP00000264601:p.Asn200Lys					RAB17_ENST00000409822.1_Missense_Mutation_p.N73K|RAB17_ENST00000409576.1_Intron|RAB17_ENST00000538644.1_Missense_Mutation_p.N73K	p.N200K	NM_022449.3	NP_071894.1	Q9H0T7	RAB17_HUMAN		Epithelial(121;9.36e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.26e-10)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000354)|Lung(119;0.011)|LUSC - Lung squamous cell carcinoma(224;0.026)	6	1229	-		Renal(207;0.00272)|Breast(86;0.00297)|all_hematologic(139;0.182)|Ovarian(221;0.221)	200					Q53QV6|Q6IA73|Q6PJZ0|Q9BVU1|Q9H9U9	Missense_Mutation	SNP	ENST00000264601.3	37	c.600C>A	CCDS2520.1	.	.	.	.	.	.	.	.	.	.	G	6.436	0.448546	0.12223	.	.	ENSG00000124839	ENST00000264601;ENST00000538644;ENST00000409822	T;T;T	0.62364	0.03;2.29;2.29	2.9	-1.14	0.09741	.	1.353080	0.04901	N	0.451360	T	0.35278	0.0926	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.11991	-1.0565	10	0.12430	T	0.62	-23.5389	3.7361	0.08511	0.345:0.1849:0.4702:0.0	.	200	Q9H0T7	RAB17_HUMAN	K	200;73;73	ENSP00000264601:N200K;ENSP00000443461:N73K;ENSP00000386589:N73K	ENSP00000264601:N200K	N	-	3	2	RAB17	238148440	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.672000	0.01952	-0.293000	0.08986	-1.066000	0.02275	AAC		0.657	RAB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257084.2			22	16	1	0	1.03073e-24	1	1.07758e-24	22	16				
NMU	10874	broad.mit.edu	37	4	56473603	56473603	+	Splice_Site	DEL	C	C	-			TCGA-QK-A6IF-01A-11D-A31L-08	TCGA-QK-A6IF-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80841ea-55be-4fc9-9353-604846afea4b	670a32a1-f498-40b8-96cc-ad24ebe37796	g.chr4:56473603delC	ENST00000264218.3	-	5	415		c.e5+1		NMU_ENST00000507338.1_Splice_Site|NMU_ENST00000505262.1_Intron|NMU_ENST00000515325.1_Splice_Site|NMU_ENST00000511469.1_Splice_Site	NM_006681.2	NP_006672.1	P48645	NMU_HUMAN	neuromedin U						digestion (GO:0007586)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric acid secretion (GO:0001696)|neuropeptide signaling pathway (GO:0007218)|photoperiodism (GO:0009648)|positive regulation of hormone secretion (GO:0046887)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of synaptic transmission (GO:0050806)|regulation of smooth muscle contraction (GO:0006940)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|terminal bouton (GO:0043195)	receptor binding (GO:0005102)			lung(3)|ovary(1)|urinary_tract(1)	5	Lung NSC(11;0.00256)|all_epithelial(27;0.075)|Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.103)	LUSC - Lung squamous cell carcinoma(4;6.72e-08)|Lung(4;6.22e-07)|Epithelial(7;0.00559)	LUSC - Lung squamous cell carcinoma(721;0.0115)		AATCATCTTACCCTTTTAGTA	0.204																																						ENST00000264218.3																			0				lung(3)|ovary(1)|urinary_tract(1)	5						c.e5+1		neuromedin U							13.0	13.0	13.0					4																	56473603		2043	4162	6205	SO:0001630	splice_region_variant	10874				neuropeptide signaling pathway	extracellular region		g.chr4:56473603delC	X76029	CCDS3501.1, CCDS75125.1	4q12	2013-02-26			ENSG00000109255	ENSG00000109255		"""Endogenous ligands"""	7859	protein-coding gene	gene with protein product	"""prepro-NMU"""	605103				7619205	Standard	XM_005265713		Approved		uc003hbc.3	P48645	OTTHUMG00000102161	ENST00000264218.3:c.309+1G>-	4.37:g.56473603delC						NMU_ENST00000515325.1_Splice_Site|NMU_ENST00000505262.1_Intron|NMU_ENST00000511469.1_Splice_Site|NMU_ENST00000507338.1_Splice_Site		NM_006681.2	NP_006672.1	P48645	NMU_HUMAN	LUSC - Lung squamous cell carcinoma(4;6.72e-08)|Lung(4;6.22e-07)|Epithelial(7;0.00559)	LUSC - Lung squamous cell carcinoma(721;0.0115)	5	415	-	Lung NSC(11;0.00256)|all_epithelial(27;0.075)|Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.103)							Splice_Site	DEL	ENST00000264218.3	37		CCDS3501.1																																																																																				0.204	NMU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220006.2		Intron	2	4						2	4	---	---	---	---
RASA4CP	401331	broad.mit.edu	37	7	44069235	44069236	+	RNA	INS	-	-	A			TCGA-QK-A6IF-01A-11D-A31L-08	TCGA-QK-A6IF-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80841ea-55be-4fc9-9353-604846afea4b	670a32a1-f498-40b8-96cc-ad24ebe37796	g.chr7:44069235_44069236insA	ENST00000446874.1	-	0	623									RAS p21 protein activator 4C, pseudogene																		CTCTCCCTGTGGGGGAGGTCAG	0.678																																						ENST00000446874.1																			0																																																			401331							g.chr7:44069235_44069236insA			7p13	2012-07-04			ENSG00000228903	ENSG00000228903			44185	pseudogene	pseudogene							Standard	NR_024116		Approved		uc011kbk.1		OTTHUMG00000155354		7.37:g.44069235_44069236insA														0	623	-									RNA	INS	ENST00000446874.1	37																																																																																						0.678	RASA4CP-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000339613.1	NR_024116		2	4						2	4	---	---	---	---
CTBP2P3	220147	broad.mit.edu	37	18	58330447	58330448	+	lincRNA	INS	-	-	T			TCGA-QK-A6IF-01A-11D-A31L-08	TCGA-QK-A6IF-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80841ea-55be-4fc9-9353-604846afea4b	670a32a1-f498-40b8-96cc-ad24ebe37796	g.chr18:58330447_58330448insT	ENST00000591869.1	-	0	228																											CCACCATGGCCTTCTGTGATAC	0.624																																						ENST00000591869.1																			0																																																			220147							g.chr18:58330447_58330448insT																													18.37:g.58330449_58330449dupT														0	228	-									RNA	INS	ENST00000591869.1	37																																																																																						0.624	RP11-325K19.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000449086.1			2	4						2	4	---	---	---	---
IRS4	8471	broad.mit.edu	37	X	107979125	107979126	+	Frame_Shift_Ins	INS	-	-	A			TCGA-QK-A6IF-01A-11D-A31L-08	TCGA-QK-A6IF-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80841ea-55be-4fc9-9353-604846afea4b	670a32a1-f498-40b8-96cc-ad24ebe37796	g.chrX:107979125_107979126insA	ENST00000372129.2	-	1	525_526	c.449_450insT	c.(448-450)ctafs	p.L150fs	RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.3_ENST00000436013.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	150	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						AGCACTGGTATAGGGTGATCAC	0.644																																						ENST00000372129.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						c.(448-450)ctafs		insulin receptor substrate 4																																				SO:0001589	frameshift_variant	8471					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107979125_107979126insA	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.450dupT	X.37:g.107979126_107979126dupA	ENSP00000361202:p.Leu150fs						p.L150fs	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN			1	525_526	-			150			PH.			Frame_Shift_Ins	INS	ENST00000372129.2	37	c.449_450insT	CCDS14544.1																																																																																				0.644	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		26	22						26	22	---	---	---	---
