#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
NPR3	4883	broad.mit.edu	37	5	32774825	32774825	+	Silent	SNP	T	T	C			TCGA-BJ-A0ZC-01A-12D-A13W-08	TCGA-BJ-A0ZC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae01da3a-78ad-4405-a24a-bcd786b4846b	bbb6db00-380f-4352-b719-235d668bdd23	g.chr5:32774825T>C	ENST00000265074.8	+	4	1414	c.1071T>C	c.(1069-1071)ttT>ttC	p.F357F	NPR3_ENST00000415167.2_Silent_p.F357F|NPR3_ENST00000415685.2_Silent_p.F141F|NPR3_ENST00000434067.2_Silent_p.F141F	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3	357					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoclast proliferation (GO:0002158)|pancreatic juice secretion (GO:0030157)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of urine volume (GO:0035810)|regulation of blood pressure (GO:0008217)|regulation of osteoblast proliferation (GO:0033688)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	G-protein coupled peptide receptor activity (GO:0008528)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	TTAACATGTTTGTTGAAGGAT	0.433																																						ENST00000265074.8																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(1069-1071)ttT>ttC		natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)	Nesiritide(DB04899)						192.0	185.0	187.0					5																	32774825		1899	4102	6001	SO:0001819	synonymous_variant	4883				osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity	g.chr5:32774825T>C		CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389			7945	protein-coding gene	gene with protein product	"""guanylate cyclase C"""	108962	"""chromosome 5 open reading frame 23"", ""atrionatriuretic peptide receptor C"", ""natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)"", ""natriuretic peptide receptor C"""	NPRC, ANPRC, C5orf23		2162522, 1979052	Standard	NM_000908		Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316	ENST00000265074.8:c.1071T>C	5.37:g.32774825T>C						NPR3_ENST00000415685.2_Silent_p.F141F|NPR3_ENST00000415167.2_Silent_p.F357F|NPR3_ENST00000434067.2_Silent_p.F141F	p.F357F	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN			4	1414	+			357					A2RRD1|B4DT84|E7EPG9	Silent	SNP	ENST00000265074.8	37	c.1071T>C	CCDS56357.1																																																																																				0.433	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317550.3	NM_000908		6	282	0	0	0	1	0	6	282				
AP4S1	11154	broad.mit.edu	37	14	31553973	31553973	+	Intron	SNP	A	A	T			TCGA-BJ-A0ZC-01A-12D-A13W-08	TCGA-BJ-A0ZC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae01da3a-78ad-4405-a24a-bcd786b4846b	bbb6db00-380f-4352-b719-235d668bdd23	g.chr14:31553973A>T	ENST00000542754.2	+	5	699				AP4S1_ENST00000216366.4_Splice_Site|AP4S1_ENST00000554345.1_Splice_Site|AP4S1_ENST00000313566.6_Intron|AP4S1_ENST00000554609.1_Intron|AP4S1_ENST00000334725.4_Splice_Site	NM_001128126.2|NM_001254728.1	NP_001121598.1|NP_001241657.1	Q9Y587	AP4S1_HUMAN	adaptor-related protein complex 4, sigma 1 subunit							coated pit (GO:0005905)|Golgi apparatus (GO:0005794)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			lung(1)	1	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.221)	GBM - Glioblastoma multiforme(265;0.00553)		TGTTTTTTTTAGGAACCAATT	0.413																																					Pancreas(128;620 2365 4508 44145)	ENST00000216366.4																			0				lung(1)	1						c.e6-1		adaptor-related protein complex 4, sigma 1 subunit							53.0	56.0	55.0					14																	31553973		2203	4300	6503	SO:0001627	intron_variant	11154					coated pit|Golgi apparatus	protein transporter activity	g.chr14:31553973A>T	AB030654	CCDS9642.1, CCDS45093.1, CCDS58309.1, CCDS58310.1	14q12	2012-06-29			ENSG00000100478	ENSG00000100478			575	protein-coding gene	gene with protein product		607243				10436028, 21620353	Standard	NM_007077		Approved	CLA20, AP47B, SPG52	uc001wqw.4	Q9Y587	OTTHUMG00000140202	ENST00000542754.2:c.306+4183A>T	14.37:g.31553973A>T						AP4S1_ENST00000554345.1_Splice_Site|AP4S1_ENST00000542754.2_Intron|AP4S1_ENST00000313566.6_Intron|AP4S1_ENST00000554609.1_Intron|AP4S1_ENST00000334725.4_Splice_Site		NM_007077.4	NP_009008.2	Q9Y587	AP4S1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.221)	GBM - Glioblastoma multiforme(265;0.00553)	6	574	+	Hepatocellular(127;0.0877)|Breast(36;0.176)							G3V2N8|Q6IAQ4|Q86U36|Q9BVE7	Splice_Site	SNP	ENST00000542754.2	37		CCDS45093.1	.	.	.	.	.	.	.	.	.	.	A	6.598	0.478645	0.12521	.	.	ENSG00000100478	ENST00000216366;ENST00000554345	.	.	.	3.62	1.07	0.20283	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.4195	0.21736	0.4226:0.0:0.0:0.5774	.	.	.	.	.	-1	.	.	.	+	.	.	AP4S1	30623724	0.225000	0.23685	0.000000	0.03702	0.008000	0.06430	0.169000	0.16641	0.200000	0.20447	0.459000	0.35465	.		0.413	AP4S1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409723.1			4	133	0	0	0	1	0	4	133				
ALAD	210	broad.mit.edu	37	9	116151734	116151734	+	Missense_Mutation	SNP	C	C	A	rs201865229		TCGA-BJ-A0ZC-01A-12D-A13W-08	TCGA-BJ-A0ZC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae01da3a-78ad-4405-a24a-bcd786b4846b	bbb6db00-380f-4352-b719-235d668bdd23	g.chr9:116151734C>A	ENST00000409155.3	-	10	981	c.785G>T	c.(784-786)cGg>cTg	p.R262L	ALAD_ENST00000277315.5_Missense_Mutation_p.R245L|ALAD_ENST00000482001.1_5'Flank	NM_000031.5	NP_000022.3	P13716	HEM2_HUMAN	aminolevulinate dehydratase	262					cellular response to interleukin-4 (GO:0071353)|heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protein homooligomerization (GO:0051260)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|identical protein binding (GO:0042802)|lead ion binding (GO:0032791)|porphobilinogen synthase activity (GO:0004655)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|stomach(1)	9					Aminolevulinic acid(DB00855)	CTTTACCTCCCGCACGATGTC	0.567																																						ENST00000409155.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|stomach(1)	9						c.(784-786)cGg>cTg		aminolevulinate dehydratase	Aminolevulinic acid(DB00855)						115.0	110.0	112.0					9																	116151734		2203	4300	6503	SO:0001583	missense	210				heme biosynthetic process|protein homooligomerization	cytosol	identical protein binding|lead ion binding|porphobilinogen synthase activity|zinc ion binding	g.chr9:116151734C>A	M13928	CCDS6794.2	9q32	2010-04-29	2010-04-29		ENSG00000148218	ENSG00000148218	4.2.1.24		395	protein-coding gene	gene with protein product	"""porphobilinogen synthase"""	125270	"""aminolevulinate, delta-, dehydratase"""			6839527, 6378062	Standard	NM_000031		Approved	ALADH, PBGS	uc011lxf.2	P13716	OTTHUMG00000020522	ENST00000409155.3:c.785G>T	9.37:g.116151734C>A	ENSP00000386284:p.Arg262Leu					ALAD_ENST00000277315.5_Missense_Mutation_p.R245L	p.R262L	NM_000031.5	NP_000022.3	P13716	HEM2_HUMAN			10	981	-			262					A8K375|B2R6F2|Q16870|Q16871|Q9BVQ9	Missense_Mutation	SNP	ENST00000409155.3	37	c.785G>T	CCDS6794.2	.	.	.	.	.	.	.	.	.	.	C	26.3	4.726558	0.89298	.	.	ENSG00000148218	ENST00000409155;ENST00000277315	D;D	0.87887	-2.31;-2.31	5.56	4.66	0.58398	Aldolase-type TIM barrel (1);	0.048090	0.85682	D	0.000000	D	0.93939	0.8060	M	0.93898	3.47	0.80722	D	1	P;P;P	0.52463	0.872;0.883;0.953	P;P;P	0.57776	0.615;0.773;0.827	D	0.94964	0.8111	10	0.72032	D	0.01	-9.6272	13.888	0.63721	0.0:0.9259:0.0:0.0741	.	262;245;291	P13716;B7Z3I9;P13716-2	HEM2_HUMAN;.;.	L	262;245	ENSP00000386284:R262L;ENSP00000277315:R245L	ENSP00000277315:R245L	R	-	2	0	ALAD	115191555	1.000000	0.71417	0.973000	0.42090	0.922000	0.55478	5.657000	0.67996	1.308000	0.44962	0.655000	0.94253	CGG		0.567	ALAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053724.3	NM_001003945		3	77	1	0	1	1	1	3	77				
CLMP	79827	broad.mit.edu	37	11	122968529	122968529	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A0ZC-01A-12D-A13W-08	TCGA-BJ-A0ZC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae01da3a-78ad-4405-a24a-bcd786b4846b	bbb6db00-380f-4352-b719-235d668bdd23	g.chr11:122968529T>C	ENST00000448775.2	-	2	500	c.160A>G	c.(160-162)Acc>Gcc	p.T54A		NM_024769.2	NP_079045.1	Q9H6B4	CLMP_HUMAN	CXADR-like membrane protein	54	Ig-like C2-type 1.				digestive tract development (GO:0048565)	cell surface (GO:0009986)|cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	14						TCATTATCGGTGAGCAGCCAT	0.493																																						ENST00000448775.2																			0				endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	14						c.(160-162)Acc>Gcc		CXADR-like membrane protein							161.0	156.0	157.0					11																	122968529		2202	4299	6501	SO:0001583	missense	79827					integral to membrane|tight junction		g.chr11:122968529T>C	BC009371	CCDS8441.1	11q24	2013-01-29			ENSG00000166250	ENSG00000166250		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	24039	protein-coding gene	gene with protein product	"""adipocyte-specific adhesion molecule"", ""coxsackie- and adenovirus receptor-like membrane protein"", ""adipocyte adhesion molecule"""	611693				12851705, 14573622	Standard	NM_024769		Approved	ASAM, FLJ22415, ACAM	uc001pyt.3	Q9H6B4		ENST00000448775.2:c.160A>G	11.37:g.122968529T>C	ENSP00000405577:p.Thr54Ala						p.T54A	NM_024769.2	NP_079045.1	Q9H6B4	CLMP_HUMAN			2	500	-			54			Ig-like C2-type 1.			Missense_Mutation	SNP	ENST00000448775.2	37	c.160A>G	CCDS8441.1	.	.	.	.	.	.	.	.	.	.	T	14.54	2.567039	0.45694	.	.	ENSG00000166250	ENST00000448775	D	0.94232	-3.38	5.34	5.34	0.76211	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.369558	0.30109	N	0.010383	D	0.87892	0.6292	L	0.39898	1.24	0.30160	N	0.802307	B	0.28820	0.224	B	0.31495	0.131	T	0.77988	-0.2380	10	0.05833	T	0.94	.	10.8487	0.46757	0.0:0.0:0.1574:0.8426	.	54	Q9H6B4	CLMP_HUMAN	A	54	ENSP00000405577:T54A	ENSP00000405577:T54A	T	-	1	0	CLMP	122473739	1.000000	0.71417	0.996000	0.52242	0.858000	0.48976	2.210000	0.42816	2.161000	0.67846	0.379000	0.24179	ACC		0.493	CLMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387542.1	NM_024769		4	124	0	0	0	1	0	4	124				
DMD	1756	broad.mit.edu	37	X	31854884	31854884	+	Missense_Mutation	SNP	G	G	A	rs185706283		TCGA-BJ-A0ZC-01A-12D-A13W-08	TCGA-BJ-A0ZC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae01da3a-78ad-4405-a24a-bcd786b4846b	bbb6db00-380f-4352-b719-235d668bdd23	g.chrX:31854884G>A	ENST00000357033.4	-	49	7357	c.7151C>T	c.(7150-7152)tCt>tTt	p.S2384F	DMD_ENST00000378677.2_Missense_Mutation_p.S2380F|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000359836.1_5'UTR|DMD_ENST00000343523.2_5'UTR|DMD_ENST00000541735.1_5'UTR|DMD_ENST00000378707.3_5'UTR	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2384					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTGCCCTTTAGACAAAATCTC	0.408																																						ENST00000357033.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(7150-7152)tCt>tTt		dystrophin							214.0	178.0	190.0					X																	31854884		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:31854884G>A	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.7151C>T	X.37:g.31854884G>A	ENSP00000354923:p.Ser2384Phe					DMD_ENST00000378677.2_Missense_Mutation_p.S2380F|DMD_ENST00000343523.2_5'UTR|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000359836.1_5'UTR|DMD_ENST00000541735.1_5'UTR|DMD_ENST00000378707.3_5'UTR	p.S2384F	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN			49	7357	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	2384					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.7151C>T	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	G	16.71	3.197687	0.58126	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T;T	0.36520	1.25;1.25;1.25	5.63	5.63	0.86233	.	0.000000	0.34777	U	0.003682	T	0.50599	0.1625	L	0.32530	0.975	0.80722	D	1	D;D;D;D;D	0.69078	0.997;0.995;0.995;0.976;0.976	D;D;D;P;P	0.80764	0.994;0.986;0.986;0.549;0.447	T	0.51545	-0.8692	10	0.62326	D	0.03	.	16.847	0.85983	0.0:0.0:1.0:0.0	.	2376;2384;2380;1043;1040	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;DMD_HUMAN;.;.;.	F	2376;1043;1040;80;2380;2384;2384;2261	ENSP00000350765:S80F;ENSP00000367948:S2380F;ENSP00000354923:S2384F	ENSP00000354923:S2384F	S	-	2	0	DMD	31764805	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	6.780000	0.75063	2.355000	0.79922	0.415000	0.27848	TCT		0.408	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		5	98	0	0	0	1	0	5	98				
RC3H1	149041	broad.mit.edu	37	1	173934152	173934152	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0ZC-01A-12D-A13W-08	TCGA-BJ-A0ZC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae01da3a-78ad-4405-a24a-bcd786b4846b	bbb6db00-380f-4352-b719-235d668bdd23	g.chr1:173934152C>T	ENST00000367696.2	-	10	1792	c.1441G>A	c.(1441-1443)Ggt>Agt	p.G481S	RC3H1_ENST00000367694.2_Missense_Mutation_p.G481S|RC3H1_ENST00000258349.4_Missense_Mutation_p.G481S			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	481					B cell homeostasis (GO:0001782)|cytoplasmic mRNA processing body assembly (GO:0033962)|lymph node development (GO:0048535)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of germinal center formation (GO:0002635)|negative regulation of T-helper cell differentiation (GO:0045623)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|posttranscriptional regulation of gene expression (GO:0010608)|protein ubiquitination (GO:0016567)|regulation of germinal center formation (GO:0002634)|regulation of mRNA stability (GO:0043488)|regulation of T cell receptor signaling pathway (GO:0050856)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						TCCACTGCACCTTCATCTGGA	0.498																																						ENST00000367696.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						c.(1441-1443)Ggt>Agt		ring finger and CCCH-type domains 1							124.0	114.0	117.0					1																	173934152		2203	4300	6503	SO:0001583	missense	149041				cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:173934152C>T	AK093501	CCDS30940.1, CCDS72987.1	1q25.1	2013-01-18	2010-09-15		ENSG00000135870	ENSG00000135870		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	29434	protein-coding gene	gene with protein product	"""KIAA2025 protein"""	609424	"""ring finger and CCCH-type zinc finger domains 1"""			15917799	Standard	XM_005244918		Approved	KIAA2025, roquin, RP5-1198E17.5, RNF198	uc001gju.4	Q5TC82	OTTHUMG00000037275	ENST00000367696.2:c.1441G>A	1.37:g.173934152C>T	ENSP00000356669:p.Gly481Ser					RC3H1_ENST00000367694.2_Missense_Mutation_p.G481S|RC3H1_ENST00000258349.4_Missense_Mutation_p.G481S	p.G481S			Q5TC82	RC3H1_HUMAN			10	1792	-			481					B3KVK1|Q5W180|Q5W181|Q8IVE6|Q8N9V1	Missense_Mutation	SNP	ENST00000367696.2	37	c.1441G>A	CCDS30940.1	.	.	.	.	.	.	.	.	.	.	C	16.17	3.046210	0.55110	.	.	ENSG00000135870	ENST00000367696;ENST00000258349;ENST00000367694	T;T;T	0.48522	0.81;0.81;0.82	5.8	1.81	0.25067	.	0.415206	0.30704	N	0.009059	T	0.38188	0.1031	L	0.55481	1.735	0.42273	D	0.992069	B;B;B;B	0.12013	0.005;0.002;0.001;0.0	B;B;B;B	0.12156	0.004;0.004;0.007;0.003	T	0.13872	-1.0493	10	0.42905	T	0.14	-0.1841	6.7272	0.23363	0.1257:0.6711:0.0:0.2032	.	481;481;481;481	B9EGU6;B7ZMB3;Q5TC82-2;Q5TC82	.;.;.;RC3H1_HUMAN	S	481	ENSP00000356669:G481S;ENSP00000258349:G481S;ENSP00000356667:G481S	ENSP00000258349:G481S	G	-	1	0	RC3H1	172200775	0.993000	0.37304	0.996000	0.52242	0.991000	0.79684	1.030000	0.30153	0.073000	0.16731	0.655000	0.94253	GGT		0.498	RC3H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090733.2	NM_172071		3	121	0	0	0	1	0	3	121				
ST13	6767	broad.mit.edu	37	22	41231580	41231580	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A0ZC-01A-12D-A13W-08	TCGA-BJ-A0ZC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae01da3a-78ad-4405-a24a-bcd786b4846b	bbb6db00-380f-4352-b719-235d668bdd23	g.chr22:41231580G>A	ENST00000216218.3	-	7	1043	c.562C>T	c.(562-564)Cgg>Tgg	p.R188W		NM_003932.3	NP_003923.2	P50502	F10A1_HUMAN	suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein)	188					chaperone cofactor-dependent protein refolding (GO:0070389)|negative regulation of protein refolding (GO:0061084)|protein folding (GO:0006457)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	dATP binding (GO:0032564)|protein binding, bridging (GO:0030674)			cervix(1)|large_intestine(1)|lung(3)|skin(1)	6						GCTTTCCCCCGCCACTTGTAA	0.358																																						ENST00000216218.3																			0				cervix(1)|large_intestine(1)|lung(3)|skin(1)	6						c.(562-564)Cgg>Tgg		suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein)							110.0	121.0	118.0					22																	41231580		2192	4287	6479	SO:0001583	missense	6767						protein binding, bridging	g.chr22:41231580G>A		CCDS14006.1	22q13.2	2013-01-10	2001-11-29		ENSG00000100380	ENSG00000100380		"""Tetratricopeptide (TTC) repeat domain containing"""	11343	protein-coding gene	gene with protein product	"""progesterone receptor-associated p48 protein"""	606796	"""suppression of tumorigenicity 13 (colon carcinoma) (Hsp70-interacting protein)"""			9925927, 8721986	Standard	NM_003932		Approved	SNC6, HSPABP1, HIP, P48, FAM10A1	uc003aze.3	P50502	OTTHUMG00000151201	ENST00000216218.3:c.562C>T	22.37:g.41231580G>A	ENSP00000216218:p.Arg188Trp						p.R188W	NM_003932.3	NP_003923.2	P50502	F10A1_HUMAN			7	1043	-			188					O14999|Q2TU77	Missense_Mutation	SNP	ENST00000216218.3	37	c.562C>T	CCDS14006.1	.	.	.	.	.	.	.	.	.	.	G	17.40	3.379480	0.61845	.	.	ENSG00000100380	ENST00000216218;ENST00000401032;ENST00000411695	D;T	0.89810	-2.57;1.3	5.66	0.912	0.19349	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.096480	0.64402	D	0.000001	D	0.96839	0.8968	H	0.99130	4.44	0.51767	D	0.999936	D;D	0.89917	1.0;1.0	D;D	0.87578	0.983;0.998	D	0.97786	1.0235	10	0.87932	D	0	.	16.7645	0.85521	0.0:0.0:0.3075:0.6925	.	178;188	B4E0U6;P50502	.;F10A1_HUMAN	W	188;188;151	ENSP00000216218:R188W;ENSP00000392067:R151W	ENSP00000216218:R188W	R	-	1	2	ST13	39561526	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	2.002000	0.40835	0.008000	0.14787	-0.284000	0.09977	CGG		0.358	ST13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321759.1	NM_003932		6	328	0	0	0	1	0	6	328				
AMIGO1	57463	broad.mit.edu	37	1	110050830	110050830	+	Silent	SNP	G	G	A			TCGA-BJ-A0ZC-01A-12D-A13W-08	TCGA-BJ-A0ZC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae01da3a-78ad-4405-a24a-bcd786b4846b	bbb6db00-380f-4352-b719-235d668bdd23	g.chr1:110050830G>A	ENST00000369864.4	-	2	1054	c.705C>T	c.(703-705)caC>caT	p.H235H	AMIGO1_ENST00000369862.1_Silent_p.H235H					adhesion molecule with Ig-like domain 1											autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		GATACTGCCAGTGTGAAAACA	0.517																																						ENST00000369864.4																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(703-705)caC>caT		adhesion molecule with Ig-like domain 1							74.0	73.0	73.0					1																	110050830		2203	4300	6503	SO:0001819	synonymous_variant	57463				axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis	axon|integral to membrane		g.chr1:110050830G>A		CCDS30795.1	1p13.3	2013-01-11			ENSG00000181754	ENSG00000181754		"""Immunoglobulin superfamily / V-set domain containing"""	20824	protein-coding gene	gene with protein product	"""amphoterin-induced gene and open reading frame"""	615689				12629050	Standard	NM_020703		Approved	AMIGO, KIAA1163	uc001dxx.4	Q86WK6	OTTHUMG00000011653	ENST00000369864.4:c.705C>T	1.37:g.110050830G>A						AMIGO1_ENST00000369862.1_Silent_p.H235H	p.H235H			Q86WK6	AMGO1_HUMAN		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)	2	1054	-		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)	235			LRRCT.			Silent	SNP	ENST00000369864.4	37	c.705C>T	CCDS30795.1																																																																																				0.517	AMIGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032247.1	NM_020703		3	83	0	0	0	1	0	3	83				
HIST1H4L	8368	broad.mit.edu	37	6	27841025	27841025	+	Silent	SNP	A	A	T			TCGA-BJ-A0ZC-01A-12D-A13W-08	TCGA-BJ-A0ZC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae01da3a-78ad-4405-a24a-bcd786b4846b	bbb6db00-380f-4352-b719-235d668bdd23	g.chr6:27841025A>T	ENST00000355981.2	-	1	264	c.264T>A	c.(262-264)gtT>gtA	p.V88V	HIST1H3I_ENST00000328488.2_5'Flank	NM_003546.2	NP_003537.1	P62805	H4_HUMAN	histone cluster 1, H4l	88					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	13						TGAGCGCGTAAACCACGTCCA	0.542																																						ENST00000355981.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	13						c.(262-264)gtT>gtA		histone cluster 1, H4l							92.0	85.0	87.0					6																	27841025		2203	4300	6503	SO:0001819	synonymous_variant	8368				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:27841025A>T	X83548	CCDS4637.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198558	ENSG00000275126		"""Histones / Replication-dependent"""	4791	protein-coding gene	gene with protein product		602831	"""H4 histone family, member K"", ""histone 1, H4l"""	H4FK		9031620, 9439656, 12408966	Standard	NM_003546		Approved	H4.k, H4/k	uc003njz.3	P62805	OTTHUMG00000016211	ENST00000355981.2:c.264T>A	6.37:g.27841025A>T							p.V88V	NM_003546.2	NP_003537.1	P62805	H4_HUMAN			1	264	-			88					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Silent	SNP	ENST00000355981.2	37	c.264T>A	CCDS4637.1																																																																																				0.542	HIST1H4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043513.1	NM_003546		36	48	0	0	0	1	0	36	48				
HIF3A	64344	broad.mit.edu	37	19	46811989	46811989	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0ZC-01A-12D-A13W-08	TCGA-BJ-A0ZC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae01da3a-78ad-4405-a24a-bcd786b4846b	bbb6db00-380f-4352-b719-235d668bdd23	g.chr19:46811989C>T	ENST00000377670.4	+	5	549	c.518C>T	c.(517-519)aCc>aTc	p.T173I	HIF3A_ENST00000300862.3_Missense_Mutation_p.T171I|HIF3A_ENST00000525854.1_3'UTR|HIF3A_ENST00000600383.1_Missense_Mutation_p.T104I|HIF3A_ENST00000339613.2_Missense_Mutation_p.T117I|RNU6-924P_ENST00000362926.1_RNA|HIF3A_ENST00000420102.2_Missense_Mutation_p.T122I|HIF3A_ENST00000244303.6_Missense_Mutation_p.T104I|HIF3A_ENST00000472815.1_Missense_Mutation_p.T104I	NM_152795.3	NP_690008.2	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	173					cellular response to hypoxia (GO:0071456)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		AGTACACTCACCAGCCGCGGG	0.716																																						ENST00000339613.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33						c.(349-351)aCc>aTc		hypoxia inducible factor 3, alpha subunit							19.0	17.0	18.0					19																	46811989		2198	4293	6491	SO:0001583	missense	64344				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr19:46811989C>T	AK027725	CCDS12681.2, CCDS12682.1, CCDS42580.1, CCDS42580.2	19q13	2013-05-21			ENSG00000124440	ENSG00000124440		"""Basic helix-loop-helix proteins"""	15825	protein-coding gene	gene with protein product		609976				11573933, 11734856	Standard	NM_152794		Approved	IPAS, MOP7, PASD7, bHLHe17	uc002peh.3	Q9Y2N7	OTTHUMG00000141296	ENST00000377670.4:c.518C>T	19.37:g.46811989C>T	ENSP00000366898:p.Thr173Ile					HIF3A_ENST00000525854.1_3'UTR|HIF3A_ENST00000420102.2_Missense_Mutation_p.T122I|HIF3A_ENST00000377670.4_Missense_Mutation_p.T173I|HIF3A_ENST00000300862.3_Missense_Mutation_p.T171I|HIF3A_ENST00000600383.1_Missense_Mutation_p.T104I|HIF3A_ENST00000244303.6_Missense_Mutation_p.T104I|HIF3A_ENST00000472815.1_Missense_Mutation_p.T104I	p.T117I			Q9Y2N7	HIF3A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)	5	605	+		Ovarian(192;0.00965)|all_neural(266;0.0887)	173			PAS 1.		B0M185|B4DNA2|Q58A43|Q66K72|Q8WXA1|Q96K34|Q9H7Z9|Q9HAI2	Missense_Mutation	SNP	ENST00000377670.4	37	c.350C>T	CCDS12681.2	.	.	.	.	.	.	.	.	.	.	C	21.5	4.153843	0.78114	.	.	ENSG00000124440	ENST00000475432;ENST00000244302;ENST00000377670;ENST00000457865;ENST00000414707;ENST00000244303;ENST00000339613;ENST00000457771;ENST00000291300;ENST00000300862;ENST00000420102	T;T;T;T;T	0.35236	1.32;1.32;1.32;1.32;1.32	4.8	3.74	0.42951	.	0.206611	0.24554	N	0.037534	T	0.69305	0.3096	H	0.97158	3.95	0.58432	D	0.999999	D;D;P;D;P;P;D;D	0.69078	0.974;0.981;0.943;0.997;0.954;0.89;0.971;0.969	P;P;P;D;P;P;P;P	0.64042	0.875;0.522;0.629;0.921;0.828;0.745;0.812;0.536	T	0.80027	-0.1554	10	0.87932	D	0	.	13.0918	0.59171	0.0:0.837:0.1629:0.0	.	122;104;171;122;117;173;173;173	F5H884;B4DNA2;Q9Y2N7-2;B4DSD9;A8MPQ1;Q9Y2N7;B0M185;E7EWV6	.;.;.;.;.;HIF3A_HUMAN;.;.	I	173;173;173;87;173;104;117;104;117;171;122	ENSP00000366898:T173I;ENSP00000244303:T104I;ENSP00000341877:T117I;ENSP00000300862:T171I;ENSP00000407771:T122I	ENSP00000244302:T173I	T	+	2	0	HIF3A	51503829	1.000000	0.71417	1.000000	0.80357	0.790000	0.44656	4.661000	0.61518	1.134000	0.42165	0.561000	0.74099	ACC		0.716	HIF3A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280556.3			5	5	0	0	0	1	0	5	5				
PLEKHA8	84725	broad.mit.edu	37	7	30118255	30118255	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0ZC-01A-12D-A13W-08	TCGA-BJ-A0ZC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae01da3a-78ad-4405-a24a-bcd786b4846b	bbb6db00-380f-4352-b719-235d668bdd23	g.chr7:30118255C>T	ENST00000449726.1	+	14	1762	c.1412C>T	c.(1411-1413)aCc>aTc	p.T471I	PLEKHA8_ENST00000396257.2_Intron|PLEKHA8_ENST00000396259.1_Intron|PLEKHA8_ENST00000258679.7_Intron	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8	471	Glycolipid transfer protein homology domain.				ER to Golgi ceramide transport (GO:0035621)|lipid transport (GO:0006869)|protein transport (GO:0015031)	membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ceramide binding (GO:0097001)|glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)|phosphatidylinositol-4-phosphate binding (GO:0070273)			breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						GCCGCGTTAACCGTAAAGGAA	0.488																																						ENST00000449726.1																			0				breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						c.(1411-1413)aCc>aTc		pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8							101.0	94.0	96.0					7																	30118255		876	1991	2867	SO:0001583	missense	84725				protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity	g.chr7:30118255C>T	BC053990	CCDS5424.1, CCDS56473.1, CCDS75574.1	7p21-p11.2	2013-01-10			ENSG00000106086	ENSG00000106086		"""Pleckstrin homology (PH) domain containing"""	30037	protein-coding gene	gene with protein product		608639				11001876	Standard	NM_001197027		Approved	FAPP2, MGC3358	uc003taq.3	Q96JA3	OTTHUMG00000097751	ENST00000449726.1:c.1412C>T	7.37:g.30118255C>T	ENSP00000397947:p.Thr471Ile					PLEKHA8_ENST00000258679.7_Intron|PLEKHA8_ENST00000396257.2_Intron|PLEKHA8_ENST00000396259.1_Intron	p.T471I	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN			14	1762	+			471					B4DH00|Q7Z5V8|Q9BU78|Q9H274|Q9H8Z7	Missense_Mutation	SNP	ENST00000449726.1	37	c.1412C>T	CCDS56473.1	.	.	.	.	.	.	.	.	.	.	C	14.60	2.582461	0.46006	.	.	ENSG00000106086	ENST00000449726;ENST00000440706	.	.	.	5.33	5.33	0.75918	.	0.111749	0.39909	N	0.001221	T	0.40909	0.1136	L	0.29908	0.895	0.35329	D	0.785437	P	0.39352	0.669	B	0.31016	0.123	T	0.58289	-0.7662	9	0.66056	D	0.02	-25.1522	17.9469	0.89042	0.0:1.0:0.0:0.0	.	471	B4DH00	.	I	471;497	.	ENSP00000407802:T497I	T	+	2	0	PLEKHA8	30084780	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	4.271000	0.58902	2.670000	0.90874	0.655000	0.94253	ACC		0.488	PLEKHA8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032639		4	87	0	0	0	1	0	4	87				
RALYL	138046	broad.mit.edu	37	8	85785580	85785580	+	Missense_Mutation	SNP	C	C	G			TCGA-BJ-A0ZC-01A-12D-A13W-08	TCGA-BJ-A0ZC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae01da3a-78ad-4405-a24a-bcd786b4846b	bbb6db00-380f-4352-b719-235d668bdd23	g.chr8:85785580C>G	ENST00000521268.1	+	7	1738	c.633C>G	c.(631-633)gaC>gaG	p.D211E	RALYL_ENST00000521376.1_Missense_Mutation_p.D122E|RALYL_ENST00000521695.1_Missense_Mutation_p.D211E|RALYL_ENST00000522455.1_Missense_Mutation_p.D211E|RALYL_ENST00000523850.1_Missense_Mutation_p.D138E|RALYL_ENST00000518566.1_Missense_Mutation_p.D200E|RALYL_ENST00000517638.1_Missense_Mutation_p.D224E	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	211							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						CTAAAATTGACTCCTTGCTAG	0.428																																						ENST00000521268.1																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						c.(631-633)gaC>gaG		RALY RNA binding protein-like							67.0	63.0	64.0					8																	85785580		1880	4104	5984	SO:0001583	missense	138046						identical protein binding|nucleotide binding|RNA binding	g.chr8:85785580C>G		CCDS55252.1, CCDS55253.1, CCDS75760.1, CCDS75761.1	8q21.2	2013-07-16			ENSG00000184672	ENSG00000184672		"""RNA binding motif (RRM) containing"""	27036	protein-coding gene	gene with protein product		614648				12688537	Standard	NM_001100391		Approved	HNRPCL3	uc003yct.4	Q86SE5	OTTHUMG00000164628	ENST00000521268.1:c.633C>G	8.37:g.85785580C>G	ENSP00000430367:p.Asp211Glu					RALYL_ENST00000523850.1_Missense_Mutation_p.D138E|RALYL_ENST00000517638.1_Missense_Mutation_p.D224E|RALYL_ENST00000522455.1_Missense_Mutation_p.D211E|RALYL_ENST00000521695.1_Missense_Mutation_p.D211E|RALYL_ENST00000518566.1_Missense_Mutation_p.D200E|RALYL_ENST00000521376.1_Missense_Mutation_p.D122E	p.D211E	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN			7	1738	+			211					B3KTH2|G3V129|Q6ZW87|Q8N1C2	Missense_Mutation	SNP	ENST00000521268.1	37	c.633C>G	CCDS55253.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.568118	0.86439	.	.	ENSG00000184672	ENST00000522455;ENST00000521695;ENST00000521268;ENST00000518566;ENST00000517638;ENST00000523850;ENST00000521376	T;T;T;T;T;T;T	0.34275	1.97;1.97;1.97;1.94;1.92;1.4;1.37	6.16	4.37	0.52481	.	0.000000	0.85682	D	0.000000	T	0.57533	0.2060	M	0.71581	2.175	0.37017	D	0.896006	P;P;D;D;P	0.89917	0.93;0.709;1.0;0.967;0.709	P;B;D;P;B	0.83275	0.668;0.412;0.996;0.822;0.412	T	0.67162	-0.5740	10	0.66056	D	0.02	-12.513	12.4099	0.55461	0.0:0.8661:0.0:0.1339	.	200;211;138;224;211	B3KT61;B3KSX3;Q86SE5-2;G3V129;Q86SE5	.;.;.;.;RALYL_HUMAN	E	211;211;211;200;224;138;122	ENSP00000430394:D211E;ENSP00000428667:D211E;ENSP00000430367:D211E;ENSP00000430065:D200E;ENSP00000430128:D224E;ENSP00000428807:D138E;ENSP00000428310:D122E	ENSP00000430128:D224E	D	+	3	2	RALYL	85948135	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.679000	0.61649	1.623000	0.50342	0.650000	0.86243	GAC		0.428	RALYL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379448.1			2	14	0	0	0	1	0	2	14				
PIK3R5	23533	broad.mit.edu	37	17	8808196	8808196	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A0ZC-01A-12D-A13W-08	TCGA-BJ-A0ZC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae01da3a-78ad-4405-a24a-bcd786b4846b	bbb6db00-380f-4352-b719-235d668bdd23	g.chr17:8808196T>C	ENST00000447110.1	-	5	434	c.310A>G	c.(310-312)Aag>Gag	p.K104E	PIK3R5_ENST00000584803.1_Missense_Mutation_p.K104E|PIK3R5_ENST00000581552.1_Missense_Mutation_p.K104E	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	104					blood coagulation (GO:0007596)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|G-protein beta/gamma-subunit complex binding (GO:0031683)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						CTGGCTGCCTTCAGAAGGAGA	0.552																																					NSCLC(18;589 615 7696 20311 50332)	ENST00000447110.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						c.(310-312)Aag>Gag		phosphoinositide-3-kinase, regulatory subunit 5							122.0	107.0	112.0					17																	8808196		2203	4300	6503	SO:0001583	missense	23533				platelet activation	cytosol|membrane|nucleus		g.chr17:8808196T>C	AF128881	CCDS11147.1, CCDS73986.1	17p13.1	2011-10-13	2008-02-04		ENSG00000141506	ENSG00000141506			30035	protein-coding gene	gene with protein product		611317				12507995	Standard	NM_014308		Approved	P101-PI3K, p101	uc002glt.3	Q8WYR1	OTTHUMG00000108197	ENST00000447110.1:c.310A>G	17.37:g.8808196T>C	ENSP00000392812:p.Lys104Glu					PIK3R5_ENST00000584803.1_Missense_Mutation_p.K104E|PIK3R5_ENST00000581552.1_Missense_Mutation_p.K104E	p.K104E	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN			5	434	-			104					B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	Missense_Mutation	SNP	ENST00000447110.1	37	c.310A>G	CCDS11147.1	.	.	.	.	.	.	.	.	.	.	T	12.65	2.001631	0.35320	.	.	ENSG00000141506	ENST00000269300;ENST00000447110	T;T	0.80994	-1.44;-1.44	4.75	2.26	0.28386	.	0.224065	0.46145	D	0.000315	T	0.64023	0.2561	N	0.12746	0.255	0.42617	D	0.993337	B	0.17852	0.024	B	0.25614	0.062	T	0.57260	-0.7842	10	0.39692	T	0.17	-9.421	9.9615	0.41699	0.0:0.0:0.3268:0.6732	.	104	Q8WYR1	PI3R5_HUMAN	E	104	ENSP00000269300:K104E;ENSP00000392812:K104E	ENSP00000269300:K104E	K	-	1	0	PIK3R5	8748921	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.691000	0.47010	0.746000	0.32786	0.524000	0.50904	AAG		0.552	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000227003.2	NM_014308		27	50	0	0	0	1	0	27	50				
ZHX3	23051	broad.mit.edu	37	20	39831621	39831621	+	Silent	SNP	T	T	G			TCGA-BJ-A0ZC-01A-12D-A13W-08	TCGA-BJ-A0ZC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae01da3a-78ad-4405-a24a-bcd786b4846b	bbb6db00-380f-4352-b719-235d668bdd23	g.chr20:39831621T>G	ENST00000309060.3	-	4	2351	c.1936A>C	c.(1936-1938)Aga>Cga	p.R646R	ZHX3_ENST00000544979.2_Silent_p.R646R|ZHX3_ENST00000540170.1_Silent_p.R646R|ZHX3_ENST00000559234.1_Silent_p.R646R|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000560361.1_Silent_p.R646R|ZHX3_ENST00000432768.2_Silent_p.R646R|ZHX3_ENST00000558993.1_Intron			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	646					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoblast differentiation (GO:0045669)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				GTTTCACTTCTCAGGCGGTCC	0.493																																						ENST00000309060.3																			0				endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(1936-1938)Aga>Cga		zinc fingers and homeoboxes 3							134.0	145.0	141.0					20																	39831621		2203	4300	6503	SO:0001819	synonymous_variant	23051				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:39831621T>G	AB007855	CCDS13315.1	20q12	2012-03-09	2004-01-29	2004-01-30	ENSG00000174306	ENSG00000174306		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	15935	protein-coding gene	gene with protein product		609598	"""triple homeobox 1"""	TIX1		9455477	Standard	XM_005260343		Approved	KIAA0395	uc002xjs.1	Q9H4I2	OTTHUMG00000032481	ENST00000309060.3:c.1936A>C	20.37:g.39831621T>G						ZHX3_ENST00000559234.1_Silent_p.R646R|ZHX3_ENST00000544979.2_Silent_p.R646R|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000432768.2_Silent_p.R646R|ZHX3_ENST00000540170.1_Silent_p.R646R|ZHX3_ENST00000560361.1_Silent_p.R646R	p.R646R			Q9H4I2	ZHX3_HUMAN			4	2351	-		Myeloproliferative disorder(115;0.00425)	646					E1P5W5|F5H820|O43145|Q6NUJ7	Silent	SNP	ENST00000309060.3	37	c.1936A>C	CCDS13315.1	.	.	.	.	.	.	.	.	.	.	T	6.226	0.409839	0.11812	.	.	ENSG00000174306	ENST00000421422	.	.	.	6.06	2.31	0.28768	.	.	.	.	.	T	0.67059	0.2853	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.64183	-0.6467	4	.	.	.	-22.8556	13.4542	0.61189	0.0:0.0:0.3719:0.6281	.	.	.	.	A	354	.	.	E	-	2	0	ZHX3	39265035	0.994000	0.37717	0.999000	0.59377	0.994000	0.84299	0.918000	0.28678	0.493000	0.27837	0.528000	0.53228	GAG		0.493	ZHX3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079262.3	NM_015035		6	254	0	0	0	1	0	6	254				
PHF21A	51317	broad.mit.edu	37	11	45959840	45959840	+	Silent	SNP	G	G	A			TCGA-BJ-A0ZC-01A-12D-A13W-08	TCGA-BJ-A0ZC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae01da3a-78ad-4405-a24a-bcd786b4846b	bbb6db00-380f-4352-b719-235d668bdd23	g.chr11:45959840G>A	ENST00000418153.2	-	15	1672	c.1473C>T	c.(1471-1473)tgC>tgT	p.C491C	PHF21A_ENST00000257821.4_Silent_p.C492C|PHF21A_ENST00000527753.1_5'UTR|PHF21A_ENST00000323180.6_Silent_p.C445C			Q96BD5	PF21A_HUMAN	PHD finger protein 21A	491	Required for transcriptional repression.				blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|suckling behavior (GO:0001967)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						TGCAAACGCTGCAAAAATCCT	0.393																																						ENST00000257821.4																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						c.(1474-1476)tgC>tgT		PHD finger protein 21A							81.0	77.0	78.0					11																	45959840		2202	4299	6501	SO:0001819	synonymous_variant	51317				blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding	g.chr11:45959840G>A	AL359593	CCDS31474.1, CCDS44578.1	11p11.2	2013-01-28			ENSG00000135365	ENSG00000135365		"""Zinc fingers, PHD-type"""	24156	protein-coding gene	gene with protein product		608325				11214970, 12032298	Standard	NM_001101802		Approved	BHC80, KIAA1696, BM-006	uc001ncc.4	Q96BD5	OTTHUMG00000167038	ENST00000418153.2:c.1473C>T	11.37:g.45959840G>A						PHF21A_ENST00000418153.2_Silent_p.C491C|PHF21A_ENST00000323180.6_Silent_p.C445C|PHF21A_ENST00000527753.1_5'UTR	p.C492C	NM_001101802.1	NP_001095272.1	Q96BD5	PF21A_HUMAN			15	2099	-			491			Required for transcriptional repression.		D3DQP5|Q6AWA2|Q9C0G7|Q9H8V9|Q9HAK6|Q9NZE9	Silent	SNP	ENST00000418153.2	37	c.1476C>T	CCDS44578.1																																																																																				0.393	PHF21A-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392583.1	NM_016621		4	94	0	0	0	1	0	4	94				
RBPMS	11030	broad.mit.edu	37	8	30361916	30361916	+	Silent	SNP	G	G	A			TCGA-BJ-A0ZC-01A-12D-A13W-08	TCGA-BJ-A0ZC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae01da3a-78ad-4405-a24a-bcd786b4846b	bbb6db00-380f-4352-b719-235d668bdd23	g.chr8:30361916G>A	ENST00000320203.4	+	5	942	c.360G>A	c.(358-360)ctG>ctA	p.L120L	RBPMS_ENST00000517860.1_Silent_p.L120L|RBPMS_ENST00000397323.4_Silent_p.L120L|RBPMS_ENST00000538486.1_Silent_p.L120L|RBPMS_ENST00000339877.4_Silent_p.L120L|RBPMS_ENST00000519647.1_Silent_p.L16L|RBPMS_ENST00000520191.1_Silent_p.L16L|RBPMS_ENST00000287771.5_Silent_p.L120L|RBPMS_ENST00000520161.1_Silent_p.L16L	NM_006867.2	NP_006858.1	Q93062	RBPMS_HUMAN	RNA binding protein with multiple splicing	120					positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(542;0.144)|Kidney(114;0.172)		GTACTCCTCTGCCCAACACTG	0.433																																						ENST00000320203.4																			0				autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(358-360)ctG>ctA		RNA binding protein with multiple splicing							153.0	130.0	138.0					8																	30361916		2203	4300	6503	SO:0001819	synonymous_variant	11030				positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	cytoplasm|nucleus	nucleotide binding|poly(A) RNA binding|protein binding|transcription coactivator activity	g.chr8:30361916G>A	D84110	CCDS6077.1, CCDS34875.1, CCDS34876.1	8p12	2013-06-07			ENSG00000157110	ENSG00000157110		"""RNA binding motif (RRM) containing"""	19097	protein-coding gene	gene with protein product		601558				8855282	Standard	NM_001008710		Approved	HERMES	uc003xib.3	Q93062	OTTHUMG00000163845	ENST00000320203.4:c.360G>A	8.37:g.30361916G>A						RBPMS_ENST00000519647.1_Silent_p.L16L|RBPMS_ENST00000397323.4_Silent_p.L120L|RBPMS_ENST00000339877.4_Silent_p.L120L|RBPMS_ENST00000287771.5_Silent_p.L120L|RBPMS_ENST00000520161.1_Silent_p.L16L|RBPMS_ENST00000517860.1_Silent_p.L120L|RBPMS_ENST00000538486.1_Silent_p.L120L|RBPMS_ENST00000520191.1_Silent_p.L16L	p.L120L	NM_006867.2	NP_006858.1	Q93062	RBPMS_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.144)|Kidney(114;0.172)	5	942	+			120					D3DSU9|Q92516|Q92517|Q92518|Q96J26	Silent	SNP	ENST00000320203.4	37	c.360G>A	CCDS6077.1																																																																																				0.433	RBPMS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376357.2			12	131	0	0	0	1	0	12	131				
ISM1	140862	broad.mit.edu	37	20	13279730	13279730	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A0ZC-01A-12D-A13W-08	TCGA-BJ-A0ZC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae01da3a-78ad-4405-a24a-bcd786b4846b	bbb6db00-380f-4352-b719-235d668bdd23	g.chr20:13279730G>A	ENST00000262487.4	+	6	1025	c.1019G>A	c.(1018-1020)cGc>cAc	p.R340H	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor	340	AMOP. {ECO:0000255|PROSITE- ProRule:PRU00347}.					extracellular region (GO:0005576)				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						ATCTTCGACCGCATCAAGCGC	0.592																																						ENST00000262487.3																			0				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						c.(1018-1020)cGc>cAc		isthmin 1, angiogenesis inhibitor							47.0	52.0	51.0					20																	13279730		2132	4232	6364	SO:0001583	missense	140862					extracellular region		g.chr20:13279730G>A	AL133463	CCDS46579.1	20p12.1	2013-05-15	2013-05-15	2008-12-23	ENSG00000101230	ENSG00000101230			16213	protein-coding gene	gene with protein product		615793	"""chromosome 20 open reading frame 82"", ""isthmin 1 homolog (zebrafish)"""	C20orf82			Standard	NM_080826		Approved	bA149I18.1	uc010gce.1	B1AKI9		ENST00000262487.4:c.1019G>A	20.37:g.13279730G>A	ENSP00000262487:p.Arg340His					TASP1_ENST00000539805.1_Intron	p.R340H	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN			6	1025	+			340			AMOP.		Q8WVH9	Missense_Mutation	SNP	ENST00000262487.4	37	c.1019G>A	CCDS46579.1	.	.	.	.	.	.	.	.	.	.	G	12.85	2.062569	0.36373	.	.	ENSG00000101230	ENST00000262487;ENST00000447521	T;T	0.44881	0.91;0.92	5.88	2.59	0.31030	AMOP (3);	0.253966	0.46442	N	0.000295	T	0.26122	0.0637	N	0.14661	0.345	0.80722	D	1	B	0.06786	0.001	B	0.10450	0.005	T	0.04467	-1.0949	10	0.51188	T	0.08	-24.9405	11.5915	0.50949	0.2088:0.0:0.7912:0.0	.	340	B1AKI9	ISM1_HUMAN	H	340;294	ENSP00000262487:R340H;ENSP00000409938:R294H	ENSP00000262487:R340H	R	+	2	0	ISM1	13227730	0.370000	0.25047	1.000000	0.80357	0.920000	0.55202	0.723000	0.25939	0.291000	0.22468	-0.137000	0.14449	CGC		0.592	ISM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078039.2			3	28	0	0	0	1	0	3	28				
TBC1D3P5	440419	broad.mit.edu	37	17	25758368	25758368	+	RNA	SNP	G	G	T			TCGA-BJ-A0ZC-01A-12D-A13W-08	TCGA-BJ-A0ZC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae01da3a-78ad-4405-a24a-bcd786b4846b	bbb6db00-380f-4352-b719-235d668bdd23	g.chr17:25758368G>T	ENST00000586223.1	+	0	2802					NR_033892.1				TBC1 domain family, member 3 pseudogene 5																		ATAAGCACCCGAGATCCCAAA	0.453											OREG0024258	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000586223.1																			0																																																			0							g.chr17:25758368G>T			17q11.1	2014-03-20			ENSG00000266433	ENSG00000266433			43567	pseudogene	pseudogene							Standard	NR_033892		Approved		uc002gzg.3		OTTHUMG00000179156		17.37:g.25758368G>T			OREG0024258	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	781			NR_033892.1						0	2802	+									RNA	SNP	ENST00000586223.1	37																																																																																						0.453	TBC1D3P5-003	KNOWN	non_canonical_TEC|basic	processed_transcript	pseudogene	OTTHUMT00000451073.1	NR_033892		3	37	1	0	1	1	1	3	37				
RNF14	9604	broad.mit.edu	37	5	141364442	141364442	+	Silent	SNP	C	C	G			TCGA-BJ-A0ZC-01A-12D-A13W-08	TCGA-BJ-A0ZC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae01da3a-78ad-4405-a24a-bcd786b4846b	bbb6db00-380f-4352-b719-235d668bdd23	g.chr5:141364442C>G	ENST00000394520.2	+	8	1620	c.1311C>G	c.(1309-1311)ctC>ctG	p.L437L	RNF14_ENST00000394514.2_Silent_p.L311L|AC005740.5_ENST00000520882.1_RNA|RNF14_ENST00000356143.1_Silent_p.L437L|RNF14_ENST00000347642.3_Silent_p.L437L|RNF14_ENST00000394519.1_Silent_p.L437L|RNF14_ENST00000394515.3_Silent_p.L261L|RNF14_ENST00000540015.1_Silent_p.L134L	NM_001201365.1|NM_004290.4	NP_001188294.1|NP_004281.1	Q9UBS8	RNF14_HUMAN	ring finger protein 14	437	Interaction with androgen receptor.				androgen receptor signaling pathway (GO:0030521)|positive regulation of transcription, DNA-templated (GO:0045893)|protein ubiquitination (GO:0016567)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|small conjugating protein ligase activity (GO:0019787)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15		all_hematologic(541;0.0536)|Ovarian(839;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		TGGGTTCTCTCTCTAGAGCAA	0.403																																						ENST00000394520.2																			0				cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(1309-1311)ctC>ctG		ring finger protein 14							131.0	123.0	125.0					5																	141364442		2203	4300	6503	SO:0001819	synonymous_variant	9604				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein ubiquitination|regulation of androgen receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|small conjugating protein ligase activity|transcription coactivator activity|zinc ion binding	g.chr5:141364442C>G	AF060544	CCDS4270.1, CCDS4271.1	5q23.3-q31.1	2008-02-05			ENSG00000013561	ENSG00000013561		"""RING-type (C3HC4) zinc fingers"""	10058	protein-coding gene	gene with protein product		605675				10085091, 10320776	Standard	NM_183399		Approved	ARA54, HFB30, TRIAD2	uc003lmc.3	Q9UBS8	OTTHUMG00000129660	ENST00000394520.2:c.1311C>G	5.37:g.141364442C>G						RNF14_ENST00000394515.3_Silent_p.L261L|RNF14_ENST00000394514.2_Silent_p.L311L|RNF14_ENST00000540015.1_Silent_p.L134L|RNF14_ENST00000356143.1_Silent_p.L437L|RNF14_ENST00000347642.3_Silent_p.L437L|RNF14_ENST00000394519.1_Silent_p.L437L	p.L437L	NM_001201365.1|NM_004290.4	NP_001188294.1|NP_004281.1	Q9UBS8	RNF14_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)	8	1620	+		all_hematologic(541;0.0536)|Ovarian(839;0.118)	437			Interaction with androgen receptor.		A0AV26|A6NMR2|A8MTW5|B3KN72|B7ZLV2|D3DQE4|O94793|Q6IBV0	Silent	SNP	ENST00000394520.2	37	c.1311C>G	CCDS4270.1																																																																																				0.403	RNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251860.2	NM_004290		4	229	0	0	0	1	0	4	229				
FOXQ1	94234	broad.mit.edu	37	6	1313344	1313344	+	Silent	SNP	G	G	T			TCGA-BJ-A0ZC-01A-12D-A13W-08	TCGA-BJ-A0ZC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae01da3a-78ad-4405-a24a-bcd786b4846b	bbb6db00-380f-4352-b719-235d668bdd23	g.chr6:1313344G>T	ENST00000296839.2	+	1	670	c.405G>T	c.(403-405)tcG>tcT	p.S135S		NM_033260.3	NP_150285.3	Q9C009	FOXQ1_HUMAN	forkhead box Q1	135					hair follicle morphogenesis (GO:0031069)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(1)|urinary_tract(1)	2	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)		TCCGCGACTCGGCGGGCGGGC	0.687																																						ENST00000296839.2																			0				lung(1)|urinary_tract(1)	2						c.(403-405)tcG>tcT		forkhead box Q1							26.0	30.0	28.0					6																	1313344		2153	4214	6367	SO:0001819	synonymous_variant	94234				DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding	g.chr6:1313344G>T	AF153341	CCDS4471.1	6p25	2008-02-05			ENSG00000164379	ENSG00000164379		"""Forkhead boxes"""	20951	protein-coding gene	gene with protein product		612788				11747606, 12011061	Standard	NM_033260		Approved	HFH1	uc003mtl.4	Q9C009	OTTHUMG00000016160	ENST00000296839.2:c.405G>T	6.37:g.1313344G>T							p.S135S	NM_033260.3	NP_150285.3	Q9C009	FOXQ1_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)	1	670	+	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)	135					Q9NS06	Silent	SNP	ENST00000296839.2	37	c.405G>T	CCDS4471.1																																																																																				0.687	FOXQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043410.1	NM_033260		3	18	1	0	0.115264	1	0.13743	3	18				
SMOC1	64093	broad.mit.edu	37	14	70477484	70477484	+	Silent	SNP	G	G	A	rs546621996		TCGA-BJ-A0ZC-01A-12D-A13W-08	TCGA-BJ-A0ZC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae01da3a-78ad-4405-a24a-bcd786b4846b	bbb6db00-380f-4352-b719-235d668bdd23	g.chr14:70477484G>A	ENST00000381280.4	+	8	931	c.678G>A	c.(676-678)tcG>tcA	p.S226S	SMOC1_ENST00000361956.3_Silent_p.S226S	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	226	Thyroglobulin type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00500}.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|eye development (GO:0001654)|limb development (GO:0060173)|positive regulation of cell-substrate adhesion (GO:0010811)|regulation of osteoblast differentiation (GO:0045667)|signal transduction (GO:0007165)	basement membrane (GO:0005604)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		AAGTCTATTCGTGTGACCAGG	0.527													G|||	1	0.000199681	0.0	0.0	5008	,	,		20577	0.0		0.0	False		,,,				2504	0.001					ENST00000381280.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						c.(676-678)tcG>tcA		SPARC related modular calcium binding 1							101.0	107.0	105.0					14																	70477484		2203	4300	6503	SO:0001819	synonymous_variant	64093				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding	g.chr14:70477484G>A	AJ249900	CCDS9798.1, CCDS32110.1	14q24.1	2010-08-05			ENSG00000198732	ENSG00000198732			20318	protein-coding gene	gene with protein product		608488				12130637	Standard	NM_001034852		Approved		uc001xlt.2	Q9H4F8		ENST00000381280.4:c.678G>A	14.37:g.70477484G>A						SMOC1_ENST00000361956.3_Silent_p.S226S	p.S226S	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN		all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)	8	931	+			226			Thyroglobulin type-1 2.		A8K1S3|B2R7P5|Q96F78	Silent	SNP	ENST00000381280.4	37	c.678G>A	CCDS9798.1																																																																																				0.527	SMOC1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000412467.1			4	122	0	0	0	1	0	4	122				
DDX51	317781	broad.mit.edu	37	12	132626093	132626093	+	Missense_Mutation	SNP	C	C	G			TCGA-BJ-A0ZC-01A-12D-A13W-08	TCGA-BJ-A0ZC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae01da3a-78ad-4405-a24a-bcd786b4846b	bbb6db00-380f-4352-b719-235d668bdd23	g.chr12:132626093C>G	ENST00000397333.3	-	7	1092	c.1054G>C	c.(1054-1056)Gac>Cac	p.D352H	NOC4L_ENST00000330579.1_5'Flank	NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	352	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		TCGATGTGGTCCACCAGGCGG	0.647																																						ENST00000397333.3																			0				endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10						c.(1054-1056)Gac>Cac		DEAD (Asp-Glu-Ala-Asp) box polypeptide 51							39.0	51.0	47.0					12																	132626093		2019	4173	6192	SO:0001583	missense	317781				rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr12:132626093C>G	BC040185	CCDS41865.1	12q24.33	2005-10-12				ENSG00000185163		"""DEAD-boxes"""	20082	protein-coding gene	gene with protein product							Standard	NM_175066		Approved		uc001ujy.4	Q8N8A6		ENST00000397333.3:c.1054G>C	12.37:g.132626093C>G	ENSP00000380495:p.Asp352His						p.D352H	NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)	7	1092	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)	352			Helicase ATP-binding.		A8MPT9|Q5CZ71|Q8IXK5|Q96ED1	Missense_Mutation	SNP	ENST00000397333.3	37	c.1054G>C	CCDS41865.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.713240	0.89112	.	.	ENSG00000185163	ENST00000397333	T	0.06687	3.27	4.97	4.97	0.65823	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.27419	0.0673	M	0.67517	2.055	0.80722	D	1	D	0.65815	0.995	D	0.72625	0.978	T	0.00936	-1.1508	10	0.87932	D	0	-29.3003	15.7486	0.77967	0.0:1.0:0.0:0.0	.	352	Q8N8A6	DDX51_HUMAN	H	352	ENSP00000380495:D352H	ENSP00000380495:D352H	D	-	1	0	DDX51	131192046	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.133000	0.77259	2.312000	0.78011	0.591000	0.81541	GAC		0.647	DDX51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398978.1	NM_175066		3	38	0	0	0	1	0	3	38				
TBC1D16	125058	broad.mit.edu	37	17	77926612	77926612	+	Missense_Mutation	SNP	G	G	T	rs559517523		TCGA-BJ-A0ZC-01A-12D-A13W-08	TCGA-BJ-A0ZC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae01da3a-78ad-4405-a24a-bcd786b4846b	bbb6db00-380f-4352-b719-235d668bdd23	g.chr17:77926612G>T	ENST00000310924.2	-	4	900	c.785C>A	c.(784-786)cCg>cAg	p.P262Q	TBC1D16_ENST00000576768.1_5'Flank|TBC1D16_ENST00000340848.7_5'Flank|TBC1D16_ENST00000572862.1_5'Flank|TBC1D16_ENST00000570373.1_5'Flank	NM_001271844.1|NM_001271845.1|NM_019020.2	NP_001258773.1|NP_001258774.1|NP_061893.2	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	262	Ser-rich.						Rab GTPase activator activity (GO:0005097)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			GGAGCTGGACGGGGGGCTGGT	0.657																																					Ovarian(14;397 562 4850 31922 49378)	ENST00000310924.2																			0				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28						c.(784-786)cCg>cAg		TBC1 domain family, member 16							25.0	29.0	27.0					17																	77926612		2197	4282	6479	SO:0001583	missense	125058					intracellular	Rab GTPase activator activity	g.chr17:77926612G>T	AL157485	CCDS11766.1, CCDS62351.1, CCDS62352.1, CCDS62353.1	17q25.3	2013-07-10				ENSG00000167291			28356	protein-coding gene	gene with protein product						23019362	Standard	NM_019020		Approved	MGC25062, FLJ20748	uc002jxj.4	Q8TBP0		ENST00000310924.2:c.785C>A	17.37:g.77926612G>T	ENSP00000309794:p.Pro262Gln						p.P262Q	NM_001271844.1|NM_001271845.1|NM_019020.2	NP_001258773.1|NP_001258774.1|NP_061893.2	Q8TBP0	TBC16_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)		4	900	-	all_neural(118;0.167)		262			Ser-rich.		B9A6L7|I3L1E0|I3L4U2|Q8N3Z4|Q96DH7	Missense_Mutation	SNP	ENST00000310924.2	37	c.785C>A	CCDS11766.1	.	.	.	.	.	.	.	.	.	.	G	10.38	1.335469	0.24253	.	.	ENSG00000167291	ENST00000310924	T	0.07567	3.18	5.3	5.3	0.74995	.	0.463064	0.21532	N	0.073035	T	0.10337	0.0253	L	0.44542	1.39	0.80722	D	1	P	0.39847	0.691	B	0.40741	0.339	T	0.13229	-1.0517	10	0.33940	T	0.23	-41.7925	13.3822	0.60773	0.0:0.1578:0.8422:0.0	.	262	Q8TBP0	TBC16_HUMAN	Q	262	ENSP00000309794:P262Q	ENSP00000309794:P262Q	P	-	2	0	TBC1D16	75541207	1.000000	0.71417	0.970000	0.41538	0.082000	0.17680	7.201000	0.77847	2.472000	0.83506	0.655000	0.94253	CCG		0.657	TBC1D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437145.1	NM_019020		3	42	1	0	0.150653	1	0.172972	3	42				
CD96	10225	broad.mit.edu	37	3	111197863	111197868	+	lincRNA	DEL	CACACA	CACACA	-	rs61579002|rs398051454|rs7650195	byFrequency	TCGA-BJ-A0ZC-01A-12D-A13W-08	TCGA-BJ-A0ZC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae01da3a-78ad-4405-a24a-bcd786b4846b	bbb6db00-380f-4352-b719-235d668bdd23	g.chr3:111197863_111197868delCACACA	ENST00000497896.1	-	0	208																											CGAACAGCCTcacacacacacacaca	0.544																																						ENST00000497896.1																			0																																																			0							g.chr3:111197863_111197868delCACACA																													3.37:g.111197869_111197874delCACACA														0	208	-									RNA	DEL	ENST00000497896.1	37																																																																																						0.544	RP11-615J4.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000354056.1			3	4						3	4	---	---	---	---
MROH5	389690	broad.mit.edu	37	8	142517140	142517140	+	RNA	DEL	T	T	-	rs367923179|rs375789302		TCGA-BJ-A0ZC-01A-12D-A13W-08	TCGA-BJ-A0ZC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae01da3a-78ad-4405-a24a-bcd786b4846b	bbb6db00-380f-4352-b719-235d668bdd23	g.chr8:142517140delT	ENST00000430863.1	-	0	161					NM_207414.2	NP_997297.2	Q6ZUA9	MROH5_HUMAN	maestro heat-like repeat family member 5																		TGGGGGGGGGTCAGGGGGTCC	0.657																																						ENST00000430863.1																			0													maestro heat-like repeat family member 5							36.0	38.0	38.0					8																	142517140		1900	4104	6004			389690							g.chr8:142517140delT			8q24.3	2012-12-20			ENSG00000226807	ENSG00000226807		"""maestro heat-like repeat containing"""	42976	protein-coding gene	gene with protein product							Standard	NM_207414		Approved	FLJ43860	uc003ywi.2	Q6ZUA9	OTTHUMG00000155944		8.37:g.142517140delT								NM_207414.2	NP_997297.2					0	161	-									RNA	DEL	ENST00000430863.1	37																																																																																						0.657	MROH5-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000342412.4	NM_207414		7	19						7	19	---	---	---	---
PTCHD3P1	387647	broad.mit.edu	37	10	29707318	29707320	+	RNA	DEL	TAT	TAT	-			TCGA-BJ-A0ZC-01A-12D-A13W-08	TCGA-BJ-A0ZC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae01da3a-78ad-4405-a24a-bcd786b4846b	bbb6db00-380f-4352-b719-235d668bdd23	g.chr10:29707318_29707320delTAT	ENST00000427063.2	+	0	143				PTCHD3P1_ENST00000445521.1_RNA|PTCHD3P1_ENST00000537908.1_RNA|PTCHD3P1_ENST00000423223.1_RNA|PTCHD3P1_ENST00000430295.1_RNA|PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000609413.1_RNA|PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000438202.1_RNA|PTCHD3P1_ENST00000455774.1_RNA|PTCHD3P1_ENST00000414457.1_RNA|PTCHD3P1_ENST00000608994.1_RNA	NR_003930.1				patched domain containing 3 pseudogene 1																		taaaatatgctattataacaact	0.3																																						ENST00000427063.2																			0																																																			0							g.chr10:29707318_29707320delTAT			10p11.23	2014-08-07			ENSG00000274985	ENSG00000224597			44945	pseudogene	pseudogene							Standard	NG_034006		Approved		uc001iuq.2		OTTHUMG00000187781		10.37:g.29707321_29707323delTAT						PTCHD3P1_ENST00000430295.1_RNA|PTCHD3P1_ENST00000455774.1_RNA|PTCHD3P1_ENST00000423223.1_RNA|PTCHD3P1_ENST00000414457.1_RNA|PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000445521.1_RNA|PTCHD3P1_ENST00000537908.1_RNA|PTCHD3P1_ENST00000438202.1_RNA|PTCHD3P1_ENST00000446807.1_RNA		NR_003930.1						0	143	+									RNA	DEL	ENST00000427063.2	37																																																																																						0.300	PTCHD3P1-003	KNOWN	basic	antisense	antisense	OTTHUMT00000047385.1	NG_034006		2	4						2	4	---	---	---	---
RP11-252A24.2	0	broad.mit.edu	37	16	74394379	74394380	+	RNA	INS	-	-	A	rs142790741	byFrequency	TCGA-BJ-A0ZC-01A-12D-A13W-08	TCGA-BJ-A0ZC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae01da3a-78ad-4405-a24a-bcd786b4846b	bbb6db00-380f-4352-b719-235d668bdd23	g.chr16:74394379_74394380insA	ENST00000429810.2	-	0	435																											TAGTCATCCTTAAACAAAATTC	0.347													|||unknown(NO_COVERAGE)	1085	0.216653	0.2474	0.1888	5008	,	,		27432	0.1379		0.2604	False		,,,				2504	0.2311					ENST00000429810.2																			0																																																			0							g.chr16:74394379_74394380insA																													16.37:g.74394382_74394382dupA														0	435	-									RNA	INS	ENST00000429810.2	37																																																																																						0.347	RP11-252A24.2-003	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000434683.1			3	3						3	3	---	---	---	---
FKRP	79147	broad.mit.edu	37	19	47259363	47259364	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BJ-A0ZC-01A-12D-A13W-08	TCGA-BJ-A0ZC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae01da3a-78ad-4405-a24a-bcd786b4846b	bbb6db00-380f-4352-b719-235d668bdd23	g.chr19:47259363_47259364insC	ENST00000318584.5	+	4	953_954	c.656_657insC	c.(655-660)ggcaccfs	p.T220fs	FKRP_ENST00000600646.1_Intron|FKRP_ENST00000391909.3_Frame_Shift_Ins_p.T220fs	NM_001039885.2|NM_024301.4	NP_001034974.1|NP_077277.1	Q9H9S5	FKRP_HUMAN	fukutin related protein	220					glycoprotein biosynthetic process (GO:0009101)|protein processing (GO:0016485)	dystrophin-associated glycoprotein complex (GO:0016010)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|rough endoplasmic reticulum (GO:0005791)|sarcolemma (GO:0042383)	transferase activity (GO:0016740)			NS(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336)		CGGCCGGTGGGCACCAGCCTCT	0.762																																						ENST00000318584.5																			0				NS(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7						c.(655-657)gacfs		fukutin related protein																																				SO:0001589	frameshift_variant	79147					extracellular space|Golgi apparatus|rough endoplasmic reticulum|sarcolemma	transferase activity	g.chr19:47259363_47259364insC	AJ314847	CCDS12691.1	19q13.32	2014-09-17			ENSG00000181027	ENSG00000181027			17997	protein-coding gene	gene with protein product		606596				11592034, 11741828	Standard	NM_024301		Approved	LGMD2I, MDC1C	uc002pfp.2	Q9H9S5		ENST00000318584.5:c.657dupC	19.37:g.47259364_47259364dupC	ENSP00000326570:p.Thr220fs					FKRP_ENST00000391909.3_Frame_Shift_Ins_p.D219fs|FKRP_ENST00000600646.1_Intron	p.D219fs	NM_001039885.2|NM_024301.4	NP_001034974.1|NP_077277.1	Q9H9S5	FKRP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336)	4	953_954	+		all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	219					A8K5G7	Frame_Shift_Ins	INS	ENST00000318584.5	37	c.656_657insC	CCDS12691.1																																																																																				0.762	FKRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465473.1	NM_024301		2	4						2	4	---	---	---	---
