#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
RBL1	5933	broad.mit.edu	37	20	35632208	35632208	+	Missense_Mutation	SNP	C	C	T	rs192996186		TCGA-S7-A7WL-01A-11D-A35I-08	TCGA-S7-A7WL-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	819a5f3c-350e-48ac-a62f-e9ad1b305b51	84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d	g.chr20:35632208C>T	ENST00000373664.3	-	21	2999	c.2933G>A	c.(2932-2934)cGc>cAc	p.R978H	RBL1_ENST00000344359.3_Missense_Mutation_p.R978H	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1	978					chromatin modification (GO:0016568)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription factor binding (GO:0008134)			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				CTGGGAAATGCGGCGTGGTGA	0.453													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15497	0.0		0.0	False		,,,				2504	0.0					ENST00000373664.3																			0				NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42						c.(2932-2934)cGc>cAc		retinoblastoma-like 1 (p107)							127.0	115.0	119.0					20																	35632208		2203	4300	6503	SO:0001583	missense	5933				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding	g.chr20:35632208C>T	L14812	CCDS13289.1, CCDS13290.1	20q11.23	2014-03-11	2014-03-11		ENSG00000080839	ENSG00000080839			9893	protein-coding gene	gene with protein product		116957				1833063	Standard	NM_183404		Approved	p107, cp107, PRB1	uc002xgi.3	P28749	OTTHUMG00000032406	ENST00000373664.3:c.2933G>A	20.37:g.35632208C>T	ENSP00000362768:p.Arg978His					RBL1_ENST00000344359.3_Missense_Mutation_p.R978H	p.R978H	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN			21	2999	-		Myeloproliferative disorder(115;0.00878)	978					A8K2W5|Q4VXA0|Q8N5K6|Q9H1L5|Q9H1M1	Missense_Mutation	SNP	ENST00000373664.3	37	c.2933G>A	CCDS13289.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	32	5.182230	0.94885	.	.	ENSG00000080839	ENST00000373664;ENST00000344359	T;T	0.59772	0.24;0.24	5.04	5.04	0.67666	Rb C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.78960	0.4366	M	0.83223	2.63	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.82159	-0.0595	10	0.87932	D	0	-7.9578	18.5888	0.91200	0.0:1.0:0.0:0.0	.	978;978	P28749-2;P28749	.;RBL1_HUMAN	H	978	ENSP00000362768:R978H;ENSP00000343646:R978H	ENSP00000343646:R978H	R	-	2	0	RBL1	35065622	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.594000	0.74104	2.632000	0.89209	0.650000	0.86243	CGC		0.453	RBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079067.2	NM_002895		3	47	0	0	0	1	0	3	47				
PGLYRP4	57115	broad.mit.edu	37	1	153312923	153312923	+	Missense_Mutation	SNP	C	C	T			TCGA-S7-A7WL-01A-11D-A35I-08	TCGA-S7-A7WL-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	819a5f3c-350e-48ac-a62f-e9ad1b305b51	84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d	g.chr1:153312923C>T	ENST00000359650.5	-	7	822	c.758G>A	c.(757-759)cGc>cAc	p.R253H	PGLYRP4_ENST00000368739.3_Missense_Mutation_p.R249H	NM_020393.2	NP_065126.2	Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	253					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			GACCAGCAGGCGGCACTCATC	0.542																																						ENST00000368739.3																			0				breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23						c.(745-747)cGc>cAc		peptidoglycan recognition protein 4							101.0	97.0	99.0					1																	153312923		2203	4300	6503	SO:0001583	missense	57115				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	g.chr1:153312923C>T	AF242518	CCDS30871.1	1q21	2008-02-05			ENSG00000163218	ENSG00000163218			30015	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein I beta precursor"""	608198				11461926	Standard	XR_241090		Approved	SBBI67, PGRPIB, PGLYRPIbeta, PGRP-Ibeta	uc001fbo.3	Q96LB8	OTTHUMG00000037057	ENST00000359650.5:c.758G>A	1.37:g.153312923C>T	ENSP00000352672:p.Arg253His					PGLYRP4_ENST00000359650.5_Missense_Mutation_p.R253H	p.R249H			Q96LB8	PGRP4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		7	1104	-	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		253					A8K838|Q3B822|Q3B823|Q5SY63|Q5SY64|Q9HD75	Missense_Mutation	SNP	ENST00000359650.5	37	c.746G>A	CCDS30871.1	.	.	.	.	.	.	.	.	.	.	C	12.63	1.996509	0.35226	.	.	ENSG00000163218	ENST00000368739;ENST00000359650	T;T	0.17213	2.29;2.29	3.64	-1.61	0.08399	Peptidoglycan recognition protein family domain, metazoa/bacteria (1);N-acetylmuramoyl-L-alanine amidase domain (4);	0.754962	0.11756	N	0.532586	T	0.15392	0.0371	L	0.60455	1.87	0.09310	N	0.999991	D;D	0.71674	0.998;0.998	P;D	0.65987	0.901;0.94	T	0.07947	-1.0746	10	0.45353	T	0.12	-24.8992	7.2323	0.26049	0.0:0.3842:0.0:0.6158	.	249;253	Q96LB8-2;Q96LB8	.;PGRP4_HUMAN	H	249;253	ENSP00000357728:R249H;ENSP00000352672:R253H	ENSP00000352672:R253H	R	-	2	0	PGLYRP4	151579547	0.000000	0.05858	0.397000	0.26308	0.498000	0.33706	-1.787000	0.01764	-0.225000	0.09913	0.655000	0.94253	CGC		0.542	PGLYRP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000089978.1	NM_020393		6	68	0	0	0	1	0	6	68				
DNM1P47	100216544	broad.mit.edu	37	15	102292770	102292770	+	RNA	SNP	C	C	T	rs199538020	byFrequency	TCGA-S7-A7WL-01A-11D-A35I-08	TCGA-S7-A7WL-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	819a5f3c-350e-48ac-a62f-e9ad1b305b51	84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d	g.chr15:102292770C>T	ENST00000561463.1	+	0	816									DNM1 pseudogene 47																		AGCGGCGCGACGAGATGCTGC	0.597																																						ENST00000561463.1																			0																																																			100216544							g.chr15:102292770C>T	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102292770C>T														0	816	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.597	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		4	24	0	0	0	1	0	4	24				
ZNF510	22869	broad.mit.edu	37	9	99521448	99521448	+	Missense_Mutation	SNP	C	C	T	rs143262029		TCGA-S7-A7WL-01A-11D-A35I-08	TCGA-S7-A7WL-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	819a5f3c-350e-48ac-a62f-e9ad1b305b51	84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d	g.chr9:99521448C>T	ENST00000375231.1	-	6	2314	c.1664G>A	c.(1663-1665)cGa>cAa	p.R555Q	ZNF510_ENST00000223428.4_Missense_Mutation_p.R555Q			Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	555					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21		Acute lymphoblastic leukemia(62;0.0527)				ATGATCTTTTCGCCAGAAGGA	0.413																																						ENST00000375231.1																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21						c.(1663-1665)cGa>cAa		zinc finger protein 510		C	GLN/ARG	0,4406		0,0,2203	108.0	109.0	108.0		1664	1.1	0.4	9	dbSNP_134	108	1,8597	1.2+/-3.3	0,1,4298	no	missense	ZNF510	NM_014930.1	43	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	555/684	99521448	1,13003	2203	4299	6502	SO:0001583	missense	22869				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:99521448C>T	AB023189	CCDS35074.1	9q22.33	2013-01-08			ENSG00000081386	ENSG00000081386		"""Zinc fingers, C2H2-type"", ""-"""	29161	protein-coding gene	gene with protein product						10231032	Standard	XM_005251807		Approved	KIAA0972	uc004awn.1	Q9Y2H8	OTTHUMG00000020303	ENST00000375231.1:c.1664G>A	9.37:g.99521448C>T	ENSP00000364379:p.Arg555Gln					ZNF510_ENST00000223428.4_Missense_Mutation_p.R555Q	p.R555Q			Q9Y2H8	ZN510_HUMAN			6	2314	-		Acute lymphoblastic leukemia(62;0.0527)	555					Q5SZP5	Missense_Mutation	SNP	ENST00000375231.1	37	c.1664G>A	CCDS35074.1	.	.	.	.	.	.	.	.	.	.	C	5.640	0.302822	0.10678	0.0	1.16E-4	ENSG00000081386	ENST00000375231;ENST00000223428	T;T	0.07444	3.19;3.19	3.02	1.13	0.20643	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03477	0.0100	L	0.28014	0.82	0.09310	N	1	B	0.30281	0.275	B	0.12156	0.007	T	0.38845	-0.9642	9	0.02654	T	1	.	2.635	0.04955	0.2308:0.5178:0.0:0.2514	.	555	Q9Y2H8	ZN510_HUMAN	Q	555	ENSP00000364379:R555Q;ENSP00000223428:R555Q	ENSP00000223428:R555Q	R	-	2	0	ZNF510	98561269	0.000000	0.05858	0.383000	0.26132	0.984000	0.73092	-2.011000	0.01452	0.299000	0.22661	0.655000	0.94253	CGA		0.413	ZNF510-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053287.1	NM_014930		20	77	0	0	0	1	0	20	77				
FRG1B	284802	broad.mit.edu	37	20	29633900	29633900	+	Missense_Mutation	SNP	A	A	G	rs60081496		TCGA-S7-A7WL-01A-11D-A35I-08	TCGA-S7-A7WL-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	819a5f3c-350e-48ac-a62f-e9ad1b305b51	84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d	g.chr20:29633900A>G	ENST00000278882.3	+	9	919	c.539A>G	c.(538-540)gAa>gGa	p.E180G	FRG1B_ENST00000358464.4_Missense_Mutation_p.E180G			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	180								p.E180G(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAAACAAGAGAACCAAATTGA	0.264																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.E180G(2)	kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(538-540)gAa>gGa																																						SO:0001583	missense	284802							g.chr20:29633900A>G			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.539A>G	20.37:g.29633900A>G	ENSP00000278882:p.Glu180Gly					FRG1B_ENST00000358464.4_Missense_Mutation_p.E180G	p.E180G							9	919	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.539A>G		.	.	.	.	.	.	.	.	.	.	a	9.128	1.010735	0.19277	.	.	ENSG00000149531	ENST00000278882;ENST00000358464	.	.	.	1.62	1.62	0.23740	.	.	.	.	.	T	0.41351	0.1155	.	.	.	0.21697	N	0.999586	.	.	.	.	.	.	T	0.36625	-0.9740	5	0.87932	D	0	.	7.2988	0.26408	1.0:0.0:0.0:0.0	rs60081496	.	.	.	G	180	.	ENSP00000278882:E180G	E	+	2	0	FRG1B	28247561	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	4.560000	0.60802	0.995000	0.38917	0.411000	0.27672	GAA		0.264	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	68	0	0	0	1	0	4	68				
MAML3	55534	broad.mit.edu	37	4	140811099	140811099	+	Splice_Site	SNP	C	C	T			TCGA-S7-A7WL-01A-11D-A35I-08	TCGA-S7-A7WL-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	819a5f3c-350e-48ac-a62f-e9ad1b305b51	84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d	g.chr4:140811099C>T	ENST00000398940.1	-	1	107	c.108G>A	c.(106-108)caG>caA	p.Q36Q	MAML3_ENST00000327122.5_Silent_p.Q341Q|MAML3_ENST00000509479.2_Silent_p.Q497Q					mastermind-like 3 (Drosophila)									p.Q497Q(2)		breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.542																																						ENST00000398940.1																			2	Substitution - coding silent(2)	p.Q497Q(2)	prostate(2)	breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.e1+1		mastermind-like 3 (Drosophila)							13.0	19.0	17.0					4																	140811099		2117	4226	6343	SO:0001630	splice_region_variant	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140811099C>T	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000398940.1:c.108+1G>A	4.37:g.140811099C>T						MAML3_ENST00000509479.2_Silent_p.Q497Q|MAML3_ENST00000327122.5_Silent_p.Q341Q	p.Q36_splice			Q96JK9	MAML3_HUMAN			1	107	-	all_hematologic(180;0.162)		497						Splice_Site	SNP	ENST00000398940.1	37	c.108_splice																																																																																					0.542	MAML3-202	KNOWN	basic	protein_coding	protein_coding			Silent	3	22	0	0	0	1	0	3	22				
MAP1A	4130	broad.mit.edu	37	15	43820463	43820463	+	Silent	SNP	C	C	T			TCGA-S7-A7WL-01A-11D-A35I-08	TCGA-S7-A7WL-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	819a5f3c-350e-48ac-a62f-e9ad1b305b51	84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d	g.chr15:43820463C>T	ENST00000300231.5	+	4	7242	c.6792C>T	c.(6790-6792)acC>acT	p.T2264T	MAP1A_ENST00000382031.1_Silent_p.T2502T|MAP1A_ENST00000399453.1_Silent_p.T2264T			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2264					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CTGAGGCTACCACGCCTGTGA	0.622																																						ENST00000382031.1																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66						c.(7504-7506)acC>acT		microtubule-associated protein 1A	Estramustine(DB01196)						63.0	68.0	66.0					15																	43820463		1967	4151	6118	SO:0001819	synonymous_variant	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43820463C>T	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.6792C>T	15.37:g.43820463C>T						MAP1A_ENST00000399453.1_Silent_p.T2264T|MAP1A_ENST00000300231.5_Silent_p.T2264T	p.T2502T			P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	5	7537	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	2264					O95643|Q12973|Q15882|Q9UJT4	Silent	SNP	ENST00000300231.5	37	c.7506C>T	CCDS42031.1																																																																																				0.622	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		42	38	0	0	0	1	0	42	38				
RBM23	55147	broad.mit.edu	37	14	23371511	23371511	+	Silent	SNP	G	G	A			TCGA-S7-A7WL-01A-11D-A35I-08	TCGA-S7-A7WL-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	819a5f3c-350e-48ac-a62f-e9ad1b305b51	84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d	g.chr14:23371511G>A	ENST00000359890.3	-	11	1206	c.1011C>T	c.(1009-1011)ggC>ggT	p.G337G	RBM23_ENST00000399922.2_Silent_p.G321G|RBM23_ENST00000555209.1_Silent_p.G87G|RBM23_ENST00000542016.2_Silent_p.G167G|RBM23_ENST00000346528.5_Silent_p.G303G	NM_001077351.1	NP_001070819.1	Q86U06	RBM23_HUMAN	RNA binding motif protein 23	337	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(3)|kidney(2)|lung(3)|prostate(1)|skin(1)	10	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.0128)		CAGTCACATGGCCAACCCTCA	0.552																																						ENST00000359890.3																			0				endometrium(3)|kidney(2)|lung(3)|prostate(1)|skin(1)	10						c.(1009-1011)ggC>ggT		RNA binding motif protein 23							72.0	71.0	71.0					14																	23371511		2014	4200	6214	SO:0001819	synonymous_variant	55147				mRNA processing	nucleus	nucleotide binding|RNA binding	g.chr14:23371511G>A	AF275678	CCDS41919.1, CCDS41920.1, CCDS41921.1	14q11.1	2014-07-03	2004-04-23	2004-04-23		ENSG00000100461		"""RNA binding motif (RRM) containing"""	20155	protein-coding gene	gene with protein product	"""coactivator of activating protein-1 and estrogen recep- tors beta"""		"""RNA-binding region (RNP1, RRM) containing 4"""	RNPC4		15694343	Standard	NM_018107		Approved	FLJ10482, CAPERbeta	uc001whg.3	Q86U06		ENST00000359890.3:c.1011C>T	14.37:g.23371511G>A						RBM23_ENST00000542016.2_Silent_p.G167G|RBM23_ENST00000399922.2_Silent_p.G321G|RBM23_ENST00000346528.5_Silent_p.G303G|RBM23_ENST00000555209.1_Silent_p.G87G	p.G337G	NM_001077351.1	NP_001070819.1	Q86U06	RBM23_HUMAN		GBM - Glioblastoma multiforme(265;0.0128)	11	1206	-	all_cancers(95;4.69e-05)		337			RRM 2.		D3DS32|Q8ND16|Q8TB88|Q8WY40|Q9BUJ1|Q9NVV7	Silent	SNP	ENST00000359890.3	37	c.1011C>T	CCDS41921.1	.	.	.	.	.	.	.	.	.	.	G	0.290	-0.980888	0.02197	.	.	ENSG00000100461	ENST00000553884	.	.	.	4.82	0.903	0.19296	.	.	.	.	.	T	0.42086	0.1187	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.24548	-1.0157	4	.	.	.	-9.4112	1.3522	0.02175	0.3339:0.1362:0.3903:0.1396	.	.	.	.	S	112	.	.	P	-	1	0	RBM23	22441351	0.027000	0.19231	0.997000	0.53966	0.136000	0.21042	-0.969000	0.03813	0.267000	0.21916	-0.251000	0.11542	CCA		0.552	RBM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000413545.3			3	38	0	0	0	1	0	3	38				
LINC00264	645528	broad.mit.edu	37	10	26880266	26880266	+	lincRNA	SNP	G	G	A			TCGA-S7-A7WL-01A-11D-A35I-08	TCGA-S7-A7WL-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	819a5f3c-350e-48ac-a62f-e9ad1b305b51	84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d	g.chr10:26880266G>A	ENST00000412114.1	+	0	501					NR_026793.1				long intergenic non-protein coding RNA 264																		ACCAAGCCCAGTGGACAGATG	0.443																																						ENST00000412114.1																			0																																																			645528							g.chr10:26880266G>A			10p12.1	2012-10-12	2011-08-11	2011-08-11	ENSG00000233261	ENSG00000233261		"""Long non-coding RNAs"""	17776	non-coding RNA	RNA, long non-coding			"""chromosome 10 open reading frame 50"", ""non-protein coding RNA 264"""	C10orf50, NCRNA00264			Standard	NR_026793		Approved	bA128B16.2	uc001ist.3		OTTHUMG00000017839		10.37:g.26880266G>A								NR_026793.1						0	501	+									RNA	SNP	ENST00000412114.1	37																																																																																						0.443	LINC00264-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000047265.1	XR_040540		3	20	0	0	0	1	0	3	20				
EPO	2056	broad.mit.edu	37	7	100320669	100320669	+	Silent	SNP	C	C	T			TCGA-S7-A7WL-01A-11D-A35I-08	TCGA-S7-A7WL-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	819a5f3c-350e-48ac-a62f-e9ad1b305b51	84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d	g.chr7:100320669C>T	ENST00000252723.2	+	5	676	c.495C>T	c.(493-495)ttC>ttT	p.F165F		NM_000799.2	NP_000790.2	P01588	EPO_HUMAN	erythropoietin	165					aging (GO:0007568)|apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular hyperosmotic response (GO:0071474)|cellular response to hypoxia (GO:0071456)|embryo implantation (GO:0007566)|erythrocyte maturation (GO:0043249)|hemoglobin biosynthetic process (GO:0042541)|negative regulation of calcium ion transport into cytosol (GO:0010523)|negative regulation of cation channel activity (GO:2001258)|negative regulation of erythrocyte apoptotic process (GO:1902251)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to axon injury (GO:0048678)|response to electrical stimulus (GO:0051602)|response to estrogen (GO:0043627)|response to hyperoxia (GO:0055093)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to salt stress (GO:0009651)|response to testosterone (GO:0033574)|response to vitamin A (GO:0033189)|signal transduction (GO:0007165)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	protein kinase activator activity (GO:0030295)			central_nervous_system(2)|endometrium(2)|lung(7)|prostate(1)	12	Lung NSC(181;0.041)|all_lung(186;0.0581)					CTGACACTTTCCGCAAACTCT	0.567																																						ENST00000252723.2																			0				central_nervous_system(2)|endometrium(2)|lung(7)|prostate(1)	12						c.(493-495)ttC>ttT		erythropoietin	Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)						129.0	131.0	131.0					7																	100320669		2203	4300	6503	SO:0001819	synonymous_variant	2056				blood circulation|cellular hyperosmotic response|erythrocyte maturation|negative regulation of apoptosis|negative regulation of ion transmembrane transporter activity|negative regulation of sodium ion transport|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat5 protein|signal transduction	extracellular space	erythropoietin receptor binding|eukaryotic cell surface binding|hormone activity	g.chr7:100320669C>T	X02157	CCDS5705.1	7q21	2014-01-30			ENSG00000130427	ENSG00000130427		"""Endogenous ligands"""	3415	protein-coding gene	gene with protein product		133170				9799793, 3838366	Standard	NM_000799		Approved	EP	uc003uwi.3	P01588	OTTHUMG00000152121	ENST00000252723.2:c.495C>T	7.37:g.100320669C>T							p.F165F	NM_000799.2	NP_000790.2	P01588	EPO_HUMAN			5	676	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		165					Q2M2L6|Q549U2|Q9UDZ0|Q9UEZ5|Q9UHA0	Silent	SNP	ENST00000252723.2	37	c.495C>T	CCDS5705.1																																																																																				0.567	EPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325323.1	NM_000799		86	45	0	0	0	1	0	86	45				
TLE4	7091	broad.mit.edu	37	9	82308561	82308561	+	Intron	SNP	T	T	C			TCGA-S7-A7WL-01A-11D-A35I-08	TCGA-S7-A7WL-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	819a5f3c-350e-48ac-a62f-e9ad1b305b51	84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d	g.chr9:82308561T>C	ENST00000376552.2	+	9	1627				TLE4_ENST00000376534.4_Intron|TLE4_ENST00000265284.6_Intron|TLE4_ENST00000376544.3_Missense_Mutation_p.L202P|TLE4_ENST00000376537.4_Intron|TLE4_ENST00000376520.4_Missense_Mutation_p.L202P	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4						negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						AGAGACAAACTCAACCACAAA	0.433																																						ENST00000376520.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						c.(604-606)cTc>cCc		transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)							96.0	89.0	91.0					9																	82308561		876	1991	2867	SO:0001627	intron_variant	7091							g.chr9:82308561T>C	M99439	CCDS43837.1, CCDS65069.1, CCDS65070.1, CCDS75851.1	9q21.32	2014-03-07	2014-03-07		ENSG00000106829	ENSG00000106829		"""WD repeat domain containing"""	11840	protein-coding gene	gene with protein product		605132	"""transducin-like enhancer of split 4, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005252167		Approved	E(spI), ESG, GRG4	uc004alc.3	Q04727	OTTHUMG00000020072	ENST00000376552.2:c.610-11137T>C	9.37:g.82308561T>C						TLE4_ENST00000376552.2_Intron|TLE4_ENST00000265284.6_Intron|TLE4_ENST00000376534.4_Intron|TLE4_ENST00000376544.3_Missense_Mutation_p.L202P|TLE4_ENST00000376537.4_Intron	p.L202P			O60756	BCE1_HUMAN			8	1433	+			0					F8W6T6|Q3ZCS1|Q5T1Y2|Q6PCB3|Q9BZ07|Q9BZ08|Q9BZ09|Q9NSL3|Q9ULF9	Missense_Mutation	SNP	ENST00000376552.2	37	c.605T>C	CCDS43837.1	.	.	.	.	.	.	.	.	.	.	T	5.506	0.278363	0.10403	.	.	ENSG00000106829	ENST00000376544;ENST00000376520	T;T	0.47528	0.84;0.89	3.91	-0.41	0.12374	.	19.070500	0.00166	N	0.000019	T	0.31231	0.0790	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.11817	-1.0572	7	0.20519	T	0.43	.	6.4721	0.22013	0.0:0.3813:0.0:0.6187	.	.	.	.	P	202	ENSP00000365727:L202P;ENSP00000365703:L202P	ENSP00000365703:L202P	L	+	2	0	TLE4	81498381	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.189000	0.01248	-0.072000	0.12864	-0.475000	0.04921	CTC		0.433	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052792.4	XM_212237		7	11	0	0	0	1	0	7	11				
LAMA4	3910	broad.mit.edu	37	6	112522827	112522827	+	Missense_Mutation	SNP	G	G	A			TCGA-S7-A7WL-01A-11D-A35I-08	TCGA-S7-A7WL-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	819a5f3c-350e-48ac-a62f-e9ad1b305b51	84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d	g.chr6:112522827G>A	ENST00000230538.7	-	5	882	c.485C>T	c.(484-486)gCt>gTt	p.A162V	LAMA4_ENST00000522006.1_Missense_Mutation_p.A162V|LAMA4_ENST00000389463.4_Missense_Mutation_p.A162V|LAMA4_ENST00000424408.2_Missense_Mutation_p.A162V|LAMA4_ENST00000524032.1_5'UTR	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	162	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GTTAGGTCCAGCATAATTTTC	0.388																																						ENST00000230538.7																			0				NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100						c.(484-486)gCt>gTt		laminin, alpha 4							282.0	295.0	291.0					6																	112522827		2203	4300	6503	SO:0001583	missense	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112522827G>A		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.485C>T	6.37:g.112522827G>A	ENSP00000230538:p.Ala162Val					LAMA4_ENST00000522006.1_Missense_Mutation_p.A162V|LAMA4_ENST00000524032.1_5'UTR|LAMA4_ENST00000389463.4_Missense_Mutation_p.A162V|LAMA4_ENST00000424408.2_Missense_Mutation_p.A162V	p.A162V	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	5	882	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	162			Laminin EGF-like 2.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	c.485C>T	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.548413	0.65311	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408;ENST00000454881;ENST00000521398;ENST00000542588;ENST00000368639	T;T;T;T;T	0.62498	0.02;0.02;0.02;0.02;0.02	6.07	5.2	0.72013	EGF-like, laminin (4);	0.052287	0.85682	N	0.000000	T	0.26340	0.0643	L	0.28115	0.83	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.12156	0.007;0.004	T	0.19582	-1.0301	10	0.05833	T	0.94	.	14.1512	0.65387	0.07:0.0:0.93:0.0	.	162;162	Q16363;Q16363-2	LAMA4_HUMAN;.	V	162	ENSP00000230538:A162V;ENSP00000429488:A162V;ENSP00000374114:A162V;ENSP00000416470:A162V;ENSP00000430336:A162V	ENSP00000230538:A162V	A	-	2	0	LAMA4	112629520	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.525000	0.67110	1.547000	0.49401	0.655000	0.94253	GCT		0.388	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		4	243	0	0	0	1	0	4	243				
CHST5	23563	broad.mit.edu	37	16	75563184	75563184	+	Missense_Mutation	SNP	C	C	T			TCGA-S7-A7WL-01A-11D-A35I-08	TCGA-S7-A7WL-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	819a5f3c-350e-48ac-a62f-e9ad1b305b51	84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d	g.chr16:75563184C>T	ENST00000336257.3	-	3	2493	c.1099G>A	c.(1099-1101)Gtg>Atg	p.V367M	CHST5_ENST00000541075.1_Missense_Mutation_p.V373M|RP11-77K12.7_ENST00000460606.1_3'UTR	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	367					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						ACCTCCTGCACGCGCAGGATC	0.652																																						ENST00000336257.3																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						c.(1099-1101)Gtg>Atg		carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5							57.0	48.0	51.0					16																	75563184		2198	4298	6496	SO:0001583	missense	23563				N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:75563184C>T	AF176839	CCDS10919.1	16q23.1	2008-02-05			ENSG00000135702	ENSG00000135702		"""Sulfotransferases, membrane-bound"""	1973	protein-coding gene	gene with protein product		604817				10491328, 11017086	Standard	NM_024533		Approved	I-GLCNAC-6-ST, FLJ22167	uc002fei.3	Q9GZS9	OTTHUMG00000137610	ENST00000336257.3:c.1099G>A	16.37:g.75563184C>T	ENSP00000338783:p.Val367Met					RP11-77K12.7_ENST00000460606.1_3'UTR|CHST5_ENST00000541075.1_Missense_Mutation_p.V373M	p.V367M	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN			3	2493	-			367					B2RV23|Q7LCN3|Q9UBY3	Missense_Mutation	SNP	ENST00000336257.3	37	c.1099G>A	CCDS10919.1	.	.	.	.	.	.	.	.	.	.	C	9.581	1.123493	0.20959	.	.	ENSG00000135702	ENST00000336257;ENST00000541075	T;T	0.24151	1.87;1.87	2.84	2.84	0.33178	Sulfotransferase domain (1);	0.139230	0.43747	D	0.000536	T	0.45895	0.1365	M	0.84082	2.675	0.27750	N	0.944177	D;D	0.76494	0.999;0.999	D;D	0.71414	0.973;0.971	T	0.33059	-0.9883	10	0.72032	D	0.01	.	4.8201	0.13387	0.0:0.7273:0.0:0.2727	.	373;367	Q9GZS9-2;Q9GZS9	.;CHST5_HUMAN	M	367;373	ENSP00000338783:V367M;ENSP00000441220:V373M	ENSP00000338783:V367M	V	-	1	0	CHST5	74120685	0.505000	0.26131	0.998000	0.56505	0.010000	0.07245	0.930000	0.28858	1.583000	0.49898	0.313000	0.20887	GTG		0.652	CHST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269025.2	NM_012126		13	23	0	0	0	1	0	13	23				
ATF1	466	broad.mit.edu	37	12	51213461	51213461	+	Missense_Mutation	SNP	A	A	C			TCGA-S7-A7WL-01A-11D-A35I-08	TCGA-S7-A7WL-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	819a5f3c-350e-48ac-a62f-e9ad1b305b51	84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d	g.chr12:51213461A>C	ENST00000262053.3	+	7	737	c.715A>C	c.(715-717)Aaa>Caa	p.K239Q	ATF1_ENST00000539132.1_Missense_Mutation_p.K104Q	NM_005171.4	NP_005162.1	P18846	ATF1_HUMAN	activating transcription factor 1	239	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				cellular protein complex assembly (GO:0043623)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to cobalt ion (GO:0032025)|response to organic cyclic compound (GO:0014070)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/ATF1(347)|FUS/ATF1(4)	breast(1)|large_intestine(1)|ovary(2)	4					Pseudoephedrine(DB00852)	AGAATATGTGAAATGCCTGGA	0.313			T	"""EWSR1, FUS"""	"""malignant melanoma of soft parts , angiomatoid fibrous histiocytoma """																																	ENST00000262053.3				Dom	yes		12	12q13	466	T	activating transcription factor 1			"""E, M"""	"""EWSR1, FUS"""		"""malignant melanoma of soft parts , angiomatoid fibrous histiocytoma """	EWSR1/ATF1(347)|FUS/ATF1(4)	0				breast(1)|large_intestine(1)|ovary(2)	4						c.(715-717)Aaa>Caa		activating transcription factor 1							47.0	50.0	49.0					12																	51213461		2203	4299	6502	SO:0001583	missense	466				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway			g.chr12:51213461A>C	BC029619	CCDS8803.1	12q13	2014-05-13			ENSG00000123268	ENSG00000123268		"""basic leucine zipper proteins"""	783	protein-coding gene	gene with protein product		123803				8401579	Standard	NM_005171		Approved	TREB36	uc001rww.4	P18846		ENST00000262053.3:c.715A>C	12.37:g.51213461A>C	ENSP00000262053:p.Lys239Gln					ATF1_ENST00000539132.1_Missense_Mutation_p.K104Q	p.K239Q	NM_005171.4	NP_005162.1	P18846	ATF1_HUMAN			7	737	+			239					B4DRF9|P25168|Q9H4A8	Missense_Mutation	SNP	ENST00000262053.3	37	c.715A>C	CCDS8803.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.351688	0.82132	.	.	ENSG00000123268	ENST00000262053;ENST00000539132	T;T	0.56776	0.44;0.44	5.48	5.48	0.80851	Basic-leucine zipper (bZIP) transcription factor (2);bZIP transcription factor, bZIP-1 (1);	0.042109	0.85682	D	0.000000	T	0.67951	0.2948	L	0.49778	1.585	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.70890	-0.4749	10	0.87932	D	0	0.857	15.8733	0.79141	1.0:0.0:0.0:0.0	.	239	P18846	ATF1_HUMAN	Q	239;104	ENSP00000262053:K239Q;ENSP00000438403:K104Q	ENSP00000262053:K239Q	K	+	1	0	ATF1	49499728	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.026000	0.93700	2.204000	0.70986	0.523000	0.50628	AAA		0.313	ATF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404285.1	NM_005171		18	29	0	0	0	1	0	18	29				
KIAA0556	23247	broad.mit.edu	37	16	27751697	27751697	+	Silent	SNP	C	C	A			TCGA-S7-A7WL-01A-11D-A35I-08	TCGA-S7-A7WL-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	819a5f3c-350e-48ac-a62f-e9ad1b305b51	84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d	g.chr16:27751697C>A	ENST00000261588.4	+	15	2098	c.2079C>A	c.(2077-2079)tcC>tcA	p.S693S		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	693						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						ACAGTTTGTCCCAGTTAGAGG	0.498																																						ENST00000261588.4																			0				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						c.(2077-2079)tcC>tcA		KIAA0556							73.0	75.0	75.0					16																	27751697		2197	4300	6497	SO:0001819	synonymous_variant	23247							g.chr16:27751697C>A	AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.2079C>A	16.37:g.27751697C>A							p.S693S	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN			15	2098	+			693					A7E2C2	Silent	SNP	ENST00000261588.4	37	c.2079C>A	CCDS32415.1																																																																																				0.498	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202		4	96	1	0	1.23904e-05	1	1.28034e-05	4	96				
GREB1	9687	broad.mit.edu	37	2	11755408	11755408	+	Missense_Mutation	SNP	G	G	C			TCGA-S7-A7WL-01A-11D-A35I-08	TCGA-S7-A7WL-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	819a5f3c-350e-48ac-a62f-e9ad1b305b51	84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d	g.chr2:11755408G>C	ENST00000381486.2	+	20	3614	c.3314G>C	c.(3313-3315)gGg>gCg	p.G1105A	GREB1_ENST00000396123.1_Missense_Mutation_p.G103A|GREB1_ENST00000234142.5_Missense_Mutation_p.G1105A	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1105						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GAGGAGCTGGGGACAGAAGGT	0.567																																					Ovarian(39;850 945 2785 23371 33093)	ENST00000381486.2																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30						c.(3313-3315)gGg>gCg		growth regulation by estrogen in breast cancer 1							48.0	56.0	53.0					2																	11755408		2154	4242	6396	SO:0001583	missense	9687					integral to membrane		g.chr2:11755408G>C		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.3314G>C	2.37:g.11755408G>C	ENSP00000370896:p.Gly1105Ala					GREB1_ENST00000234142.5_Missense_Mutation_p.G1105A|GREB1_ENST00000396123.1_Missense_Mutation_p.G103A	p.G1105A	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	20	3614	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		1105					A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	c.3314G>C	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	G	8.440	0.850547	0.17034	.	.	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000396123	T;T;T	0.20598	3.38;3.38;2.06	5.32	2.05	0.26809	.	0.592657	0.18300	N	0.145444	T	0.07728	0.0194	N	0.08118	0	0.28554	N	0.911452	B	0.02656	0.0	B	0.04013	0.001	T	0.39603	-0.9606	10	0.06494	T	0.89	-54.1568	6.2501	0.20842	0.0:0.2849:0.2019:0.5132	.	1105	Q4ZG55	GREB1_HUMAN	A	1105;1105;103	ENSP00000370896:G1105A;ENSP00000234142:G1105A;ENSP00000379429:G103A	ENSP00000234142:G1105A	G	+	2	0	GREB1	11672859	0.867000	0.29959	0.980000	0.43619	0.983000	0.72400	1.204000	0.32296	0.144000	0.18951	0.561000	0.74099	GGG		0.567	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		5	3	0	0	0	1	0	5	3				
ACAT2	39	broad.mit.edu	37	6	160184039	160184039	+	Silent	SNP	T	T	G			TCGA-S7-A7WL-01A-11D-A35I-08	TCGA-S7-A7WL-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	819a5f3c-350e-48ac-a62f-e9ad1b305b51	84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d	g.chr6:160184039T>G	ENST00000367048.4	+	2	1904	c.144T>G	c.(142-144)gcT>gcG	p.A48A	SOD2_ENST00000535372.1_5'Flank|ACAT2_ENST00000541436.1_Silent_p.A77A|SOD2_ENST00000546087.1_5'Flank	NM_005891.2	NP_005882.2	Q9BWD1	THIC_HUMAN	acetyl-CoA acetyltransferase 2	48					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)	acetyl-CoA C-acetyltransferase activity (GO:0003985)			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	9		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.51e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		CCACTGTGGCTCCGGAAGATG	0.488																																						ENST00000367048.4																			0				breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	9						c.(142-144)gcT>gcG		acetyl-CoA acetyltransferase 2							161.0	155.0	157.0					6																	160184039		2203	4300	6503	SO:0001819	synonymous_variant	39					mitochondrion|nucleolus	acetyl-CoA C-acetyltransferase activity|protein binding	g.chr6:160184039T>G	AF356877	CCDS5268.1	6q25.3	2014-05-19	2010-04-30		ENSG00000120437	ENSG00000120437	2.3.1.9		94	protein-coding gene	gene with protein product	"""acetoacetyl Coenzyme A thiolase"""	100678	"""acetyl-Coenzyme A acetyltransferase 2 (acetoacetyl Coenzyme A thiolase)"", ""acetyl-Coenzyme A acetyltransferase 2"""			2475872	Standard	NM_005891		Approved		uc010kjy.3	Q9BWD1	OTTHUMG00000015935	ENST00000367048.4:c.144T>G	6.37:g.160184039T>G						ACAT2_ENST00000541436.1_Silent_p.A77A	p.A48A	NM_005891.2	NP_005882.2	Q9BWD1	THIC_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.51e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)	2	1904	+		Breast(66;0.000776)|Ovarian(120;0.0303)	48					B7Z233|E1P5B1|Q16146|Q5TCL7|Q8TDM4	Silent	SNP	ENST00000367048.4	37	c.144T>G	CCDS5268.1																																																																																				0.488	ACAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042912.1	NM_005891		13	78	0	0	0	1	0	13	78				
HYDIN	54768	broad.mit.edu	37	16	71054178	71054178	+	Missense_Mutation	SNP	T	T	C	rs6416709	byFrequency	TCGA-S7-A7WL-01A-11D-A35I-08	TCGA-S7-A7WL-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	819a5f3c-350e-48ac-a62f-e9ad1b305b51	84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d	g.chr16:71054178T>C	ENST00000393567.2	-	22	3379	c.3229A>G	c.(3229-3231)Ata>Gta	p.I1077V	HYDIN_ENST00000448089.2_Missense_Mutation_p.I1029V	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1077			I -> V (in dbSNP:rs6416709).		cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.I1077V(3)|p.I1029V(3)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ATGTTCTTTATGGCCAAGGGC	0.418													t|||	2	0.000399361	0.0	0.0029	5008	,	,		17320	0.0		0.0	False		,,,				2504	0.0					ENST00000393567.2																			6	Substitution - Missense(6)	p.I1077V(3)|p.I1029V(3)	lung(2)|prostate(2)|endometrium(2)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43						c.(3229-3231)Ata>Gta		HYDIN, axonemal central pair apparatus protein							129.0	123.0	125.0					16																	71054178		1855	4094	5949	SO:0001583	missense	54768							g.chr16:71054178T>C	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.3229A>G	16.37:g.71054178T>C	ENSP00000377197:p.Ile1077Val					HYDIN_ENST00000448089.2_Missense_Mutation_p.I1029V	p.I1077V	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN			22	3379	-		Ovarian(137;0.0654)	1077		I -> V (in dbSNP:rs6416709).			A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.3229A>G	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	t	6.789	0.514533	0.12944	.	.	ENSG00000157423	ENST00000393567;ENST00000316490;ENST00000448089	T;T	0.06371	3.31;3.31	4.61	0.358	0.16084	.	0.892413	0.09073	U	0.852581	T	0.06096	0.0158	L	0.58101	1.795	0.80722	D	1	B	0.09022	0.002	B	0.10450	0.005	T	0.33059	-0.9883	10	0.18710	T	0.47	.	1.4303	0.02332	0.2901:0.0873:0.1652:0.4573	rs6416709;rs60865895	1077	F8WD23	.	V	1077;1077;1029	ENSP00000377197:I1077V;ENSP00000398544:I1029V	ENSP00000313052:I1077V	I	-	1	0	HYDIN	69611679	0.055000	0.20627	0.982000	0.44146	0.109000	0.19521	0.089000	0.15002	0.228000	0.21019	-0.676000	0.03789	ATA		0.418	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			3	32	0	0	0	1	0	3	32				
MECP2	4204	broad.mit.edu	37	X	153296731	153296731	+	Missense_Mutation	SNP	C	C	T			TCGA-S7-A7WL-01A-11D-A35I-08	TCGA-S7-A7WL-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	819a5f3c-350e-48ac-a62f-e9ad1b305b51	84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d	g.chrX:153296731C>T	ENST00000303391.6	-	4	797	c.548G>A	c.(547-549)gGa>gAa	p.G183E	MECP2_ENST00000460227.1_5'Flank|MECP2_ENST00000407218.1_Missense_Mutation_p.E147K|MECP2_ENST00000453960.2_Missense_Mutation_p.G195E	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2	183					adult locomotory behavior (GO:0008344)|behavioral fear response (GO:0001662)|cardiolipin metabolic process (GO:0032048)|catecholamine secretion (GO:0050432)|cerebellum development (GO:0021549)|chromatin silencing (GO:0006342)|dendrite development (GO:0016358)|glucocorticoid metabolic process (GO:0008211)|glutamine metabolic process (GO:0006541)|histone acetylation (GO:0016573)|histone methylation (GO:0016571)|inositol metabolic process (GO:0006020)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone methylation (GO:0031061)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron maturation (GO:0042551)|pathogenesis (GO:0009405)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of cell proliferation (GO:0008284)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|proprioception (GO:0019230)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|startle response (GO:0001964)|synapse assembly (GO:0007416)|transcription, DNA-templated (GO:0006351)|ventricular system development (GO:0021591)|visual learning (GO:0008542)	cytosol (GO:0005829)|extracellular space (GO:0005615)|heterochromatin (GO:0000792)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded methylated DNA binding (GO:0010385)|methyl-CpG binding (GO:0008327)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|siRNA binding (GO:0035197)|transcription corepressor activity (GO:0003714)			breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCTGCCAGTTCCTGGAGCTTT	0.597																																						ENST00000303391.6																			0				breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23						c.(547-549)gGa>gAa		methyl CpG binding protein 2 (Rett syndrome)							71.0	74.0	73.0					X																	153296731		2203	4300	6503	SO:0001583	missense	4204				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity	g.chrX:153296731C>T	AF158180	CCDS14741.1, CCDS48193.1	Xq28	2014-09-17	2014-06-18		ENSG00000169057	ENSG00000169057			6990	protein-coding gene	gene with protein product		300005	"""mental retardation, X-linked 16"", ""mental retardation, X-linked 79"", ""Rett syndrome"", ""methyl CpG binding protein 2 (Rett syndrome)"""	RTT, MRX16, MRX79		1606614, 10508514	Standard	NM_004992		Approved		uc004fjw.2	P51608	OTTHUMG00000024229	ENST00000303391.6:c.548G>A	X.37:g.153296731C>T	ENSP00000301948:p.Gly183Glu					MECP2_ENST00000453960.2_Missense_Mutation_p.G195E|MECP2_ENST00000407218.1_Missense_Mutation_p.E147K	p.G183E	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN			4	797	-	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		183					O15233|Q6QHH9|Q7Z384	Missense_Mutation	SNP	ENST00000303391.6	37	c.548G>A	CCDS14741.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.65|15.65	2.896473|2.896473	0.52121|0.52121	.|.	.|.	ENSG00000169057|ENSG00000169057	ENST00000407218|ENST00000303391;ENST00000545451;ENST00000453960;ENST00000369964	D|D;D	0.96491|0.96168	-4.03|-3.93;-3.93	5.48|5.48	5.48|5.48	0.80851|0.80851	.|Methyl-CpG DNA binding (1);DNA-binding, integrase-type (1);	.|0.000000	.|0.64402	.|D	.|0.000002	D|D	0.94618|0.94618	0.8265|0.8265	N|N	0.24115|0.24115	0.695|0.695	0.31004|0.31004	N|N	0.71996|0.71996	.|D;P	.|0.53745	.|0.962;0.937	.|P;P	.|0.56278	.|0.795;0.629	D|D	0.93486|0.93486	0.6831|0.6831	7|10	0.72032|0.45353	D|T	0.01|0.12	-9.7616|-9.7616	17.0301|17.0301	0.86458|0.86458	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|195;183	.|P51608-2;P51608	.|.;MECP2_HUMAN	K|E	147|183;183;195;183	ENSP00000384865:E147K|ENSP00000301948:G183E;ENSP00000395535:G195E	ENSP00000384865:E147K|ENSP00000301948:G183E	E|G	-|-	1|2	0|0	MECP2|MECP2	152949925|152949925	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	3.643000|3.643000	0.54374|0.54374	2.285000|2.285000	0.76669|0.76669	0.600000|0.600000	0.82982|0.82982	GAA|GGA		0.597	MECP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061144.1	NM_004992		10	45	0	0	0	1	0	10	45				
PRAMEF11	440560	broad.mit.edu	37	1	12887579	12887579	+	Missense_Mutation	SNP	G	G	T	rs2486717	byFrequency	TCGA-S7-A7WL-01A-11D-A35I-08	TCGA-S7-A7WL-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	819a5f3c-350e-48ac-a62f-e9ad1b305b51	84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d	g.chr1:12887579G>T	ENST00000535591.1	-	3	473	c.278C>A	c.(277-279)aCa>aAa	p.T93K		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	93					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.T93K(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						CTGCACTGGTGTTTTGTTCCT	0.493													.|||	12	0.00239617	0.0	0.0	5008	,	,		19361	0.0079		0.0	False		,,,				2504	0.0041					ENST00000535591.1																			1	Substitution - Missense(1)	p.T93K(1)	kidney(1)	NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						c.(277-279)aCa>aAa		PRAME family member 11																																				SO:0001583	missense	440560							g.chr1:12887579G>T	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.278C>A	1.37:g.12887579G>T	ENSP00000439551:p.Thr93Lys						p.T93K	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN			3	473	-			93						Missense_Mutation	SNP	ENST00000535591.1	37	c.278C>A	CCDS53268.1	.	.	.	.	.	.	.	.	.	.	.	0.103	-1.150051	0.01700	.	.	ENSG00000204513	ENST00000535591;ENST00000331684;ENST00000437584	T;T	0.04603	3.59;3.59	1.48	-2.96	0.05547	.	3.413660	0.01687	N	0.026476	T	0.01156	0.0038	N	0.00268	-1.735	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38672	-0.9650	10	0.12103	T	0.63	.	1.0378	0.01552	0.1543:0.2951:0.3093:0.2413	rs2486717	93	O60813	PRA11_HUMAN	K	93;134;93	ENSP00000439551:T93K;ENSP00000391839:T93K	ENSP00000328783:T134K	T	-	2	0	PRAMEF11	12810166	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.627000	0.02033	-3.350000	0.00181	-0.731000	0.03576	ACA		0.493	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		5	271	1	0	0.000274275	1	0.000274275	5	271				
KYNU	8942	broad.mit.edu	37	2	143715264	143715264	+	Missense_Mutation	SNP	C	C	T	rs147103103	byFrequency	TCGA-S7-A7WL-01A-11D-A35I-08	TCGA-S7-A7WL-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	819a5f3c-350e-48ac-a62f-e9ad1b305b51	84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d	g.chr2:143715264C>T	ENST00000264170.4	+	7	820	c.562C>T	c.(562-564)Cgg>Tgg	p.R188W	KYNU_ENST00000375773.2_Missense_Mutation_p.R188W|KYNU_ENST00000409512.1_Missense_Mutation_p.R188W	NM_003937.2	NP_003928.1			kynureninase											large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)		AGAAAGTATGCGGATGATAAA	0.308													C|||	2	0.000399361	0.0008	0.0	5008	,	,		17662	0.0		0.0	False		,,,				2504	0.001					ENST00000264170.4																			0				large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36						c.(562-564)Cgg>Tgg		kynureninase	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	C	TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	111.0	108.0	109.0		562,562,562	5.2	1.0	2	dbSNP_134	109	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense,missense	KYNU	NM_001032998.1,NM_001199241.1,NM_003937.2	101,101,101	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	188/308,188/466,188/466	143715264	1,13003	2203	4299	6502	SO:0001583	missense	8942				anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity	g.chr2:143715264C>T	U57721	CCDS2183.1, CCDS33299.1	2q22.2	2010-11-23	2010-11-23		ENSG00000115919	ENSG00000115919	3.7.1.3		6469	protein-coding gene	gene with protein product	"""L-kynurenine hydrolase"""	605197	"""kynureninase (L-kynurenine hydrolase)"""			8706755, 9180257	Standard	NM_001199241		Approved		uc002tvl.3	Q16719	OTTHUMG00000131829	ENST00000264170.4:c.562C>T	2.37:g.143715264C>T	ENSP00000264170:p.Arg188Trp					KYNU_ENST00000409512.1_Missense_Mutation_p.R188W|KYNU_ENST00000375773.2_Missense_Mutation_p.R188W	p.R188W	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.072)	7	820	+			188		R -> Q (in dbSNP:rs2304705).				Missense_Mutation	SNP	ENST00000264170.4	37	c.562C>T	CCDS2183.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	24.8	4.573463	0.86542	0.0	1.16E-4	ENSG00000115919	ENST00000264170;ENST00000375773;ENST00000409512	T;T;T	0.56941	0.43;0.43;0.43	5.24	5.24	0.73138	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.179758	0.37577	N	0.002029	T	0.62889	0.2465	L	0.47190	1.495	0.80722	D	1	D;D	0.76494	0.999;0.999	P;P	0.58928	0.842;0.848	T	0.66200	-0.5983	10	0.87932	D	0	.	15.8896	0.79286	0.0:0.8646:0.1353:0.0	.	188;188	Q16719;Q9BVW3	KYNU_HUMAN;.	W	188	ENSP00000264170:R188W;ENSP00000364928:R188W;ENSP00000386731:R188W	ENSP00000264170:R188W	R	+	1	2	KYNU	143431734	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	1.408000	0.34668	2.428000	0.82296	0.585000	0.79938	CGG		0.308	KYNU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254772.1	NM_001032998		3	49	0	0	0	1	0	3	49				
UBA6-AS1	550112	broad.mit.edu	37	4	68632418	68632419	+	RNA	INS	-	-	AT	rs141790878|rs2627241		TCGA-S7-A7WL-01A-11D-A35I-08	TCGA-S7-A7WL-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	819a5f3c-350e-48ac-a62f-e9ad1b305b51	84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d	g.chr4:68632418_68632419insAT	ENST00000500538.2	+	0	1905				UBA6-AS1_ENST00000502758.1_RNA					UBA6 antisense RNA 1 (head to head)																		cacacacacacaTATATATAct	0.431																																						ENST00000500538.2																			0																																																			550112							g.chr4:68632418_68632419insAT			4q13.2	2014-01-15			ENSG00000248049	ENSG00000248049		"""Long non-coding RNAs"""	49083	non-coding RNA	RNA, long non-coding							Standard	NR_015439		Approved	LOC550112			OTTHUMG00000160769		4.37:g.68632425_68632426dupAT						RP11-453E17.1_ENST00000502758.1_RNA								0	1905	+									RNA	INS	ENST00000500538.2	37																																																																																						0.431	UBA6-AS1-002	KNOWN	basic	antisense	antisense	OTTHUMT00000362199.2			5	2						5	2	---	---	---	---
COL21A1	81578	broad.mit.edu	37	6	55966307	55966307	+	Frame_Shift_Del	DEL	G	G	-			TCGA-S7-A7WL-01A-11D-A35I-08	TCGA-S7-A7WL-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	819a5f3c-350e-48ac-a62f-e9ad1b305b51	84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d	g.chr6:55966307delG	ENST00000244728.5	-	17	2172	c.1775delC	c.(1774-1776)cctfs	p.P592fs	COL21A1_ENST00000535941.1_Frame_Shift_Del_p.P592fs|COL21A1_ENST00000370819.1_Frame_Shift_Del_p.P589fs	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	592	Collagen-like 3.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CGGAGCACCAGGGGATCCTGC	0.383																																						ENST00000244728.5																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41						c.(1774-1776)ctfs		collagen, type XXI, alpha 1							35.0	39.0	38.0					6																	55966307		1833	4081	5914	SO:0001589	frameshift_variant	81578				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr6:55966307delG	AF330693	CCDS55025.1	6p12.3-p11.2	2013-01-16			ENSG00000124749	ENSG00000124749		"""Collagens"""	17025	protein-coding gene	gene with protein product		610002				11566190	Standard	XR_241922		Approved		uc003pcs.3	Q96P44	OTTHUMG00000014907	ENST00000244728.5:c.1775delC	6.37:g.55966307delG	ENSP00000244728:p.Pro592fs					COL21A1_ENST00000370819.1_Frame_Shift_Del_p.P589fs|COL21A1_ENST00000535941.1_Frame_Shift_Del_p.P592fs	p.P592fs	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.181)		17	2172	-	Lung NSC(77;0.0483)		592			Collagen-like 2.		A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Frame_Shift_Del	DEL	ENST00000244728.5	37	c.1775delC	CCDS55025.1																																																																																				0.383	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041004.2			2	4						2	4	---	---	---	---
SKIDA1	387640	broad.mit.edu	37	10	21805466	21805467	+	In_Frame_Ins	INS	-	-	CCTCCT	rs112207161	byFrequency	TCGA-S7-A7WL-01A-11D-A35I-08	TCGA-S7-A7WL-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	819a5f3c-350e-48ac-a62f-e9ad1b305b51	84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d	g.chr10:21805466_21805467insCCTCCT	ENST00000449193.2	-	4	3537_3538	c.1285_1286insAGGAGG	c.(1285-1287)ggg>gAGGAGGgg	p.428_429insEE	SKIDA1_ENST00000487107.1_5'Flank|SKIDA1_ENST00000444772.3_In_Frame_Ins_p.349_350insEE	NM_207371.3	NP_997254.3	Q1XH10	SKDA1_HUMAN	SKI/DACH domain containing 1	347						nucleus (GO:0005634)		p.E428_G429insEE(2)									CCCGCTGCccccctcctcctcc	0.619														2708	0.540735	0.916	0.4063	5008	,	,		10303	0.3244		0.5408	False		,,,				2504	0.3517					ENST00000449193.2																			2	Insertion - In frame(2)	p.E428_G429insEE(2)	soft_tissue(2)								c.(1285-1287)ggg>AGGAGGggg		SKI/DACH domain containing 1				3173,56,18,597		1435,46,11,246,5,0,0,3,1,175						3.0	1.0		dbSNP_132	7	4189,51,27,3619		1322,36,14,1495,1,0,13,2,9,1051	no	codingComplex	C10orf140	NM_207371.3		2757,82,25,1741,6,0,13,5,10,1226	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		46.8805,17.4558,37.2379				7362,107,45,4216				SO:0001652	inframe_insertion	387640							g.chr10:21805466_21805467insCCTCCT	AK131456	CCDS44363.1	10p12.31	2012-06-13	2012-06-13	2012-06-13	ENSG00000180592	ENSG00000180592			32697	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 140"""	C10orf140			Standard	NM_207371		Approved	FLJ45187	uc021pnx.1	Q1XH10	OTTHUMG00000017797	ENST00000449193.2:c.1280_1285dupAGGAGG	10.37:g.21805467_21805472dupCCTCCT	ENSP00000410041:p.Glu427_Glu428dup					SKIDA1_ENST00000444772.3_In_Frame_Ins_p.349_350insRR	p.428_429insRR	NM_207371.3	NP_997254.3					4	3537_3538	-								B1ANA5|Q6ZMX4|Q8N3C3	In_Frame_Ins	INS	ENST00000449193.2	37	c.1285_1286insAGGAGG	CCDS44363.1																																																																																				0.619	SKIDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286950.2	NM_207371		6	5						6	5	---	---	---	---
PLCB3	5331	broad.mit.edu	37	11	64033973	64033980	+	Frame_Shift_Del	DEL	GACGGAGA	GACGGAGA	-	rs575846795|rs375461230		TCGA-S7-A7WL-01A-11D-A35I-08	TCGA-S7-A7WL-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	819a5f3c-350e-48ac-a62f-e9ad1b305b51	84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d	g.chr11:64033973_64033980delGACGGAGA	ENST00000540288.1	+	29	3466_3473	c.3363_3370delGACGGAGA	c.(3361-3372)ctgacggagattfs	p.TEI1122fs	PLCB3_ENST00000325234.5_Frame_Shift_Del_p.TEI1055fs|PLCB3_ENST00000279230.6_Frame_Shift_Del_p.TEI1122fs	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	1122					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|regulation of systemic arterial blood pressure (GO:0003073)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						GCAGGGAACTGACGGAGATTAACCGTCG	0.644																																						ENST00000540288.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						c.(3361-3372)ctttfs		phospholipase C, beta 3 (phosphatidylinositol-specific)																																				SO:0001589	frameshift_variant	5331				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr11:64033973_64033980delGACGGAGA	Z26649	CCDS8064.1, CCDS53654.1	11q13	2008-03-18			ENSG00000149782	ENSG00000149782	3.1.4.11		9056	protein-coding gene	gene with protein product		600230				7849701	Standard	NM_000932		Approved		uc009ypg.2	Q01970	OTTHUMG00000167816	ENST00000540288.1:c.3363_3370delGACGGAGA	11.37:g.64033973_64033980delGACGGAGA	ENSP00000443631:p.Thr1122fs					PLCB3_ENST00000325234.5_Frame_Shift_Del_p.LTEI1054fs|PLCB3_ENST00000279230.6_Frame_Shift_Del_p.LTEI1121fs	p.LTEI1121fs	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN			29	3466_3473	+			1121					A5PKZ6|G5E960|Q8N1A4	Frame_Shift_Del	DEL	ENST00000540288.1	37	c.3363_3370delGACGGAGA	CCDS8064.1																																																																																				0.644	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396405.1			13	27						13	27	---	---	---	---
EHBP1L1	254102	broad.mit.edu	37	11	65352540	65352540	+	Frame_Shift_Del	DEL	C	C	-			TCGA-S7-A7WL-01A-11D-A35I-08	TCGA-S7-A7WL-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	819a5f3c-350e-48ac-a62f-e9ad1b305b51	84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d	g.chr11:65352540delC	ENST00000309295.4	+	12	3676	c.3411delC	c.(3409-3411)atcfs	p.I1137fs		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	1137	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.					membrane (GO:0016020)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						TGTGCCAGATCCGCGCCTTCT	0.716																																						ENST00000309295.4																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(3409-3411)atfs		EH domain binding protein 1-like 1							10.0	11.0	11.0					11																	65352540		2003	4094	6097	SO:0001589	frameshift_variant	254102							g.chr11:65352540delC	AL834433	CCDS44649.1	11q13.1	2008-02-05			ENSG00000173442	ENSG00000173442			30682	protein-coding gene	gene with protein product							Standard	NM_001099409		Approved	DKFZp762C186, TANGERIN	uc001oeo.4	Q8N3D4	OTTHUMG00000166520	ENST00000309295.4:c.3411delC	11.37:g.65352540delC	ENSP00000312671:p.Ile1137fs						p.I1137fs	NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN			12	3676	+			1137			CH.		Q8TB89|Q9H7M7	Frame_Shift_Del	DEL	ENST00000309295.4	37	c.3411delC	CCDS44649.1																																																																																				0.716	EHBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390145.1	XM_170658		2	4						2	4	---	---	---	---
REM2	161253	broad.mit.edu	37	14	23354529	23354529	+	Frame_Shift_Del	DEL	T	T	-			TCGA-S7-A7WL-01A-11D-A35I-08	TCGA-S7-A7WL-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	819a5f3c-350e-48ac-a62f-e9ad1b305b51	84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d	g.chr14:23354529delT	ENST00000267396.4	+	3	623	c.500delT	c.(499-501)gttfs	p.V167fs	REM2_ENST00000536884.1_Intron	NM_173527.2	NP_775798.2	Q8IYK8	REM2_HUMAN	RAS (RAD and GEM)-like GTP binding 2	167					small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|central_nervous_system(1)|large_intestine(2)|ovary(1)	5	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.012)		ACTCTAGTCGTTTATGACATC	0.507																																						ENST00000267396.4																			0				breast(1)|central_nervous_system(1)|large_intestine(2)|ovary(1)	5						c.(499-501)gtfs		RAS (RAD and GEM)-like GTP binding 2							149.0	138.0	142.0					14																	23354529		2000	4182	6182	SO:0001589	frameshift_variant	161253				regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	intracellular|plasma membrane	ATP binding|GTP binding|transcription factor binding	g.chr14:23354529delT		CCDS45082.1	14q11.2	2014-05-09	2006-12-14		ENSG00000139890	ENSG00000139890			20248	protein-coding gene	gene with protein product			"""RAS (RAD and GEM) like GTP binding 2"""			10727423	Standard	NM_173527		Approved	FLJ38964	uc001whf.1	Q8IYK8	OTTHUMG00000170277	ENST00000267396.4:c.500delT	14.37:g.23354529delT	ENSP00000267396:p.Val167fs					REM2_ENST00000536884.1_Intron	p.V167fs	NM_173527.2	NP_775798.2	Q8IYK8	REM2_HUMAN		GBM - Glioblastoma multiforme(265;0.012)	3	623	+	all_cancers(95;4.69e-05)		167					B7Z5P1|Q8N8R8	Frame_Shift_Del	DEL	ENST00000267396.4	37	c.500delT	CCDS45082.1																																																																																				0.507	REM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408290.1	NM_173527		19	45						19	45	---	---	---	---
NF1	4763	broad.mit.edu	37	17	29533281	29533293	+	Frame_Shift_Del	DEL	GATTGATGCTGTG	GATTGATGCTGTG	-	rs371599283		TCGA-S7-A7WL-01A-11D-A35I-08	TCGA-S7-A7WL-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	819a5f3c-350e-48ac-a62f-e9ad1b305b51	84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d	g.chr17:29533281_29533293delGATTGATGCTGTG	ENST00000358273.4	+	12	1667_1679	c.1284_1296delGATTGATGCTGTG	c.(1282-1296)aagattgatgctgtgfs	p.KIDAV428fs	NF1_ENST00000356175.3_Frame_Shift_Del_p.KIDAV428fs|NF1_ENST00000431387.4_Frame_Shift_Del_p.KIDAV428fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	428					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(6)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GGTGGCCTAAGATTGATGCTGTGTATTGTCACT	0.408			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	14	Whole gene deletion(8)|Unknown(6)	p.0?(8)|p.?(6)	soft_tissue(7)|autonomic_ganglia(3)|central_nervous_system(3)|lung(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(1282-1296)aafs		neurofibromin 1																																				SO:0001589	frameshift_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29533281_29533293delGATTGATGCTGTG		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.1284_1296delGATTGATGCTGTG	17.37:g.29533281_29533293delGATTGATGCTGTG	ENSP00000351015:p.Lys428fs	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000431387.4_Frame_Shift_Del_p.KIDAV428fs|NF1_ENST00000356175.3_Frame_Shift_Del_p.KIDAV428fs	p.KIDAV428fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	12	1667_1679	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	428					O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Del	DEL	ENST00000358273.4	37	c.1284_1296delGATTGATGCTGTG	CCDS42292.1																																																																																				0.408	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		18	10						18	10	---	---	---	---
APC2	10297	broad.mit.edu	37	19	1465635	1465637	+	In_Frame_Del	DEL	GAC	GAC	-			TCGA-S7-A7WL-01A-11D-A35I-08	TCGA-S7-A7WL-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	819a5f3c-350e-48ac-a62f-e9ad1b305b51	84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d	g.chr19:1465635_1465637delGAC	ENST00000535453.1	+	14	4048_4050	c.2335_2337delGAC	c.(2335-2337)gacdel	p.D782del	APC2_ENST00000238483.4_In_Frame_Del_p.D508del|CTB-25B13.12_ENST00000588225.1_RNA|APC2_ENST00000233607.2_In_Frame_Del_p.D782del|C19orf25_ENST00000588427.1_Intron			P02655	APOC2_HUMAN	adenomatosis polyposis coli 2	0					cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|chylomicron remnant clearance (GO:0034382)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle clearance (GO:0034384)|lipid catabolic process (GO:0016042)|lipoprotein metabolic process (GO:0042157)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipid catabolic process (GO:0060697)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)|very-low-density lipoprotein particle remodeling (GO:0034372)	chylomicron (GO:0042627)|early endosome (GO:0005769)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate-density lipoprotein particle (GO:0034363)|low-density lipoprotein particle (GO:0034362)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	lipase inhibitor activity (GO:0055102)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGCTGCTTTGACGACGACGATG	0.719																																						ENST00000535453.1																			0				breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18						c.(2335-2337)del		adenomatosis polyposis coli 2																																				SO:0001651	inframe_deletion	10297				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding	g.chr19:1465635_1465637delGAC		CCDS12068.1	19p13.3	2013-02-14			ENSG00000115266	ENSG00000115266		"""Armadillo repeat containing"""	24036	protein-coding gene	gene with protein product	"""adenomatous polyposis coli like"""	612034				9823329, 10021369	Standard	XM_005259475		Approved	APCL	uc002lsr.1	O95996		ENST00000535453.1:c.2335_2337delGAC	19.37:g.1465641_1465643delGAC	ENSP00000442954:p.Asp782del					APC2_ENST00000238483.4_In_Frame_Del_p.D508del|APC2_ENST00000233607.2_In_Frame_Del_p.D782del|C19orf25_ENST00000588427.1_Intron	p.D782del			O95996	APC2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	14	4048_4050	+		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	782					C0JYY4|Q9BS39|Q9UDE3|Q9UNK3	In_Frame_Del	DEL	ENST00000535453.1	37	c.2335_2337delGAC	CCDS12068.1																																																																																				0.719	APC2-004	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449539.2	NM_005883		2	4						2	4	---	---	---	---
ANKRD27	84079	broad.mit.edu	37	19	33116849	33116849	+	Frame_Shift_Del	DEL	G	G	-	rs35109898	byFrequency	TCGA-S7-A7WL-01A-11D-A35I-08	TCGA-S7-A7WL-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	819a5f3c-350e-48ac-a62f-e9ad1b305b51	84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d	g.chr19:33116849delG	ENST00000306065.4	-	17	1718	c.1560delC	c.(1558-1560)gccfs	p.A520fs		NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	520					early endosome to late endosome transport (GO:0045022)|positive regulation of GTPase activity (GO:0043547)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|lysosome (GO:0005764)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					CTTCCGCGCTGGCCTTGTAGT	0.647																																						ENST00000306065.4																			0				breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42						c.(1558-1560)gcfs		ankyrin repeat domain 27 (VPS9 domain)							93.0	65.0	74.0					19																	33116849		2203	4300	6503	SO:0001589	frameshift_variant	84079				early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr19:33116849delG	AK054561	CCDS32986.1	19q13.12	2013-01-10				ENSG00000105186		"""Ankyrin repeat domain containing"""	25310	protein-coding gene	gene with protein product	"""Vps9 domain and ankyrin-repeat-containing protein"""					11230166, 16525121	Standard	NM_032139		Approved	FLJ00040, DKFZp434L0718, VARP	uc002ntn.1	Q96NW4		ENST00000306065.4:c.1560delC	19.37:g.33116849delG	ENSP00000304292:p.Ala520fs						p.A520fs	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN			17	1718	-	Esophageal squamous(110;0.137)		520					Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Frame_Shift_Del	DEL	ENST00000306065.4	37	c.1560delC	CCDS32986.1																																																																																				0.647	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450329.1	NM_032139		2	4						2	4	---	---	---	---
