#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
NPHP4	261734	broad.mit.edu	37	1	5969267	5969267	+	Missense_Mutation	SNP	G	G	C			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr1:5969267G>C	ENST00000378156.4	-	12	1713	c.1448C>G	c.(1447-1449)cCa>cGa	p.P483R	NPHP4_ENST00000478423.2_Intron	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	483					actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		TACTGGCGCTGGCGGGCCTGG	0.642																																						uc001alq.2																			0				NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47						c.(1447-1449)cCa>cGa		Homo sapiens nephronophthisis 4 (NPHP4), mRNA.							28.0	36.0	33.0					1																	5969267		2004	4154	6158	SO:0001583	missense	261734				actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity	g.chr1:5969267G>C	AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697			19104	protein-coding gene	gene with protein product	"""nephroretinin"", ""nephrocystin-4"", ""POC10 centriolar protein homolog (Chlamydomonas)"""	607215				11920287, 12205563	Standard	XR_244787		Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.1448C>G	1.37:g.5969267G>C	ENSP00000367398:p.Pro483Arg					NPHP4_uc001als.2_Non-coding_Transcript|NPHP4_uc009vlt.2_Intron|NPHP4_uc001alt.2_Intron	p.P483R	NM_015102	NP_055917	O75161	NPHP4_HUMAN		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)	11	1716	-	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)	483					Q8IWC0	Missense_Mutation	SNP	ENST00000378156.4	37	c.1448C>G	CCDS44052.1	.	.	.	.	.	.	.	.	.	.	G	9.847	1.192553	0.21954	.	.	ENSG00000131697	ENST00000378156	D	0.87412	-2.25	3.45	1.47	0.22746	.	0.277119	0.27927	N	0.017297	T	0.79890	0.4524	L	0.54323	1.7	0.09310	N	1	P	0.39157	0.662	B	0.39419	0.299	T	0.66260	-0.5968	10	0.23302	T	0.38	.	3.8851	0.09094	0.1278:0.0:0.6357:0.2365	.	483	O75161	NPHP4_HUMAN	R	483	ENSP00000367398:P483R	ENSP00000367398:P483R	P	-	2	0	NPHP4	5891854	0.016000	0.18221	0.001000	0.08648	0.018000	0.09664	2.200000	0.42724	0.414000	0.25790	0.462000	0.41574	CCA		0.642	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001715.2		
PRAMEF2	65122	broad.mit.edu	37	1	12918957	12918957	+	Silent	SNP	G	G	A			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr1:12918957G>A	ENST00000240189.2	+	2	180	c.93G>A	c.(91-93)ctG>ctA	p.L31L		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	31					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)					breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGGAGGAGCTGCCCAGGGTGC	0.622																																						uc001aum.1																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42						c.(91-93)ctG>ctA		Homo sapiens PRAME family member 2 (PRAMEF2), mRNA.							95.0	105.0	102.0					1																	12918957		2201	4296	6497	SO:0001819	synonymous_variant	65122							g.chr1:12918957G>A		CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"""-"""	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.93G>A	1.37:g.12918957G>A							p.L31L	NM_023014	NP_075390	O60811	PRAM2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	1	180	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	31						Silent	SNP	ENST00000240189.2	37	c.93G>A	CCDS149.1																																																																																				0.622	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005517.1	NM_023014	
MACF1	23499	broad.mit.edu	37	1	39753206	39753206	+	Missense_Mutation	SNP	A	A	T			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr1:39753206A>T	ENST00000372915.3	+	14	1859	c.1772A>T	c.(1771-1773)gAa>gTa	p.E591V	MACF1_ENST00000545844.1_Missense_Mutation_p.E591V|MACF1_ENST00000564288.1_Missense_Mutation_p.E586V|MACF1_ENST00000361689.2_Missense_Mutation_p.E591V|MACF1_ENST00000567887.1_Missense_Mutation_p.E623V|MACF1_ENST00000539005.1_Missense_Mutation_p.E591V|MACF1_ENST00000317713.7_Missense_Mutation_p.E591V			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	591					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TTTGTGTATGAACTACTGTCT	0.463																																						uc021olt.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(1771-1773)gAa>gTa		Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.							157.0	154.0	155.0					1																	39753206		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39753206A>T	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.1772A>T	1.37:g.39753206A>T	ENSP00000362006:p.Glu591Val					MACF1_uc021ols.1_Missense_Mutation_p.E591V|MACF1_uc001cdc.2_Missense_Mutation_p.E591V|MACF1_uc001cda.1_Missense_Mutation_p.E499V	p.E591V	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		13	1824	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	591					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.1772A>T		.	.	.	.	.	.	.	.	.	.	A	32	5.163811	0.94727	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000524432;ENST00000530262;ENST00000372900	D;D;D;D;D;D;D	0.94862	-3.54;-3.54;-3.54;-3.54;-3.54;-3.54;-3.54	5.4	5.4	0.78164	.	.	.	.	.	D	0.96272	0.8784	M	0.65975	2.015	0.80722	D	1	B;D	0.61697	0.003;0.99	B;P	0.61201	0.007;0.885	D	0.96771	0.9568	9	0.87932	D	0	.	15.7276	0.77774	1.0:0.0:0.0:0.0	.	591;556	F8W8Q1;Q9UPN3-3	.;.	V	591;591;591;591;591;549;740;751	ENSP00000439537:E591V;ENSP00000362006:E591V;ENSP00000354573:E591V;ENSP00000313438:E591V;ENSP00000444364:E591V;ENSP00000435070:E549V;ENSP00000437059:E740V	ENSP00000313438:E591V	E	+	2	0	MACF1	39525793	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.798000	0.91888	2.180000	0.69256	0.454000	0.30748	GAA		0.463	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044	
FAAH	2166	broad.mit.edu	37	1	46871972	46871972	+	Nonsense_Mutation	SNP	C	C	T			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr1:46871972C>T	ENST00000243167.8	+	7	967	c.883C>T	c.(883-885)Cga>Tga	p.R295*	FAAH_ENST00000493735.1_3'UTR	NM_001441.2	NP_001432.2	O00519	FAAH1_HUMAN	fatty acid amide hydrolase	295					fatty acid catabolic process (GO:0009062)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|organelle membrane (GO:0031090)	acylglycerol lipase activity (GO:0047372)|carbon-nitrogen ligase activity, with glutamine as amido-N-donor (GO:0016884)|fatty acid amide hydrolase activity (GO:0017064)			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	22	Acute lymphoblastic leukemia(166;0.155)				Propofol(DB00818)|Thiopental(DB00599)	ACTGTGCCTGCGAGCCCTGCT	0.642											OREG0013458	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001cpu.2																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	22						c.(883-885)Cga>Tga		Homo sapiens fatty acid amide hydrolase (FAAH), mRNA.	Propofol(DB00818)|Thiopental(DB00599)						82.0	79.0	80.0					1																	46871972		2203	4300	6503	SO:0001587	stop_gained	2166				fatty acid catabolic process	cytoplasm|cytoskeleton|endomembrane system|integral to membrane|organelle membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|fatty acid amide hydrolase activity	g.chr1:46871972C>T	U82535	CCDS535.1	1p35-p34	2008-02-05			ENSG00000117480	ENSG00000117480			3553	protein-coding gene	gene with protein product		602935				9122178	Standard	NM_001441		Approved	FAAH-1	uc001cpu.2	O00519	OTTHUMG00000007811	ENST00000243167.8:c.883C>T	1.37:g.46871972C>T	ENSP00000243167:p.Arg295*		OREG0013458	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	942	FAAH_uc001cpv.2_Intron	p.R295*	NM_001441	NP_001432	O00519	FAAH1_HUMAN			6	965	+	Acute lymphoblastic leukemia(166;0.155)		295					D3DQ19|Q52M86|Q5TDF8	Nonsense_Mutation	SNP	ENST00000243167.8	37	c.883C>T	CCDS535.1	.	.	.	.	.	.	.	.	.	.	C	18.14	3.558545	0.65538	.	.	ENSG00000117480	ENST00000243167	.	.	.	5.15	0.802	0.18686	.	0.437392	0.21751	N	0.069667	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.4923	16.3115	0.82873	0.7609:0.2391:0.0:0.0	.	.	.	.	X	295	.	ENSP00000243167:R295X	R	+	1	2	FAAH	46644559	0.976000	0.34144	0.990000	0.47175	0.210000	0.24377	0.219000	0.17641	-0.118000	0.11851	-0.181000	0.13052	CGA		0.642	FAAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021443.1	NM_001441	
HOOK1	51361	broad.mit.edu	37	1	60312821	60312821	+	Missense_Mutation	SNP	A	A	T			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr1:60312821A>T	ENST00000371208.3	+	10	1150	c.893A>T	c.(892-894)gAa>gTa	p.E298V	HOOK1_ENST00000395561.2_Missense_Mutation_p.E256V|HOOK1_ENST00000465876.1_3'UTR	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	298	Sufficient for interaction with microtubules.				early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)|spermatid development (GO:0007286)	FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					CTTGCAGAAGAAACAAGAGCC	0.348																																						uc009wad.3																			0				biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29						c.(892-894)gAa>gTa		Homo sapiens hook homolog 1 (Drosophila) (HOOK1), mRNA.							133.0	139.0	137.0					1																	60312821		2202	4299	6501	SO:0001583	missense	51361				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding	g.chr1:60312821A>T	AF044923	CCDS612.1	1p32.1	2013-08-21	2013-08-21		ENSG00000134709	ENSG00000134709			19884	protein-coding gene	gene with protein product		607820	"""hook homolog 1 (Drosophila)"""			9927460	Standard	XM_005270922		Approved	HK1	uc001czo.3	Q9UJC3	OTTHUMG00000008990	ENST00000371208.3:c.893A>T	1.37:g.60312821A>T	ENSP00000360252:p.Glu298Val					HOOK1_uc001czo.3_Missense_Mutation_p.E298V|HOOK1_uc001czp.3_Non-coding_Transcript|HOOK1_uc010oor.2_Missense_Mutation_p.E256V	p.E298V	NM_015888	NP_056972	Q9UJC3	HOOK1_HUMAN			10	995	+	all_cancers(7;0.000129)		298			Sufficient for interaction with microtubules.		A8K8E9|A8MU44|B4DX15|O60561|Q5TG44	Missense_Mutation	SNP	ENST00000371208.3	37	c.893A>T	CCDS612.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.172138	0.78452	.	.	ENSG00000134709	ENST00000371208;ENST00000395561	T;T	0.35605	1.3;1.3	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	T	0.65719	0.2718	M	0.87269	2.87	0.80722	D	1	D	0.69078	0.997	D	0.74023	0.982	T	0.69800	-0.5047	10	0.49607	T	0.09	.	16.5993	0.84807	1.0:0.0:0.0:0.0	.	298	Q9UJC3	HOOK1_HUMAN	V	298;256	ENSP00000360252:E298V;ENSP00000378928:E256V	ENSP00000360252:E298V	E	+	2	0	HOOK1	60085409	1.000000	0.71417	1.000000	0.80357	0.554000	0.35429	8.957000	0.93082	2.311000	0.77944	0.528000	0.53228	GAA		0.348	HOOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024934.1	NM_015888	
PDE4B	5142	broad.mit.edu	37	1	66831413	66831413	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr1:66831413C>T	ENST00000329654.4	+	13	1535	c.1348C>T	c.(1348-1350)Cat>Tat	p.H450Y	PDE4B_ENST00000371045.5_Missense_Mutation_p.H278Y|PDE4B_ENST00000371049.3_Missense_Mutation_p.H450Y|PDE4B_ENST00000423207.2_Missense_Mutation_p.H435Y|PDE4B_ENST00000480109.2_Missense_Mutation_p.H217Y	NM_001037341.1	NP_001032418.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	450					cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|leukocyte migration (GO:0050900)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|neutrophil homeostasis (GO:0001780)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of high voltage-gated calcium channel activity (GO:1901841)|T cell receptor signaling pathway (GO:0050852)	cell periphery (GO:0071944)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theobromine(DB01412)|Theophylline(DB00277)	TGACGTTGATCATCCTGGAGT	0.418																																						uc001dcn.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37						c.(1348-1350)Cat>Tat		Homo sapiens phosphodiesterase 4B, cAMP-specific (PDE4B), transcript variant d, mRNA.	Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)						104.0	99.0	101.0					1																	66831413		2203	4300	6503	SO:0001583	missense	5142				signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr1:66831413C>T	L20971	CCDS632.1, CCDS30742.1, CCDS30743.1, CCDS72802.1	1p31	2010-06-24	2010-06-24		ENSG00000184588	ENSG00000184588		"""Phosphodiesterases"""	8781	protein-coding gene	gene with protein product	"""phosphodiesterase E4 dunce homolog (Drosophila)"""	600127	"""phosphodiesterase 4B, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E4)"", ""phosphodiesterase 4B, cAMP-specific (phosphodiesterase E4 dunce homolog, Drosophila)"""	DPDE4			Standard	XM_005270925		Approved		uc001dco.3	Q07343	OTTHUMG00000009088	ENST00000329654.4:c.1348C>T	1.37:g.66831413C>T	ENSP00000332116:p.His450Tyr					PDE4B_uc009war.3_Missense_Mutation_p.H358Y|PDE4B_uc001dco.3_Missense_Mutation_p.H450Y|PDE4B_uc001dcp.3_Missense_Mutation_p.H435Y|PDE4B_uc001dcq.3_Missense_Mutation_p.H278Y|PDE4B_uc009was.3_Missense_Mutation_p.H217Y	p.H450Y	NM_001037341	NP_002591	Q07343	PDE4B_HUMAN			12	1539	+			450					A5YW33|O15443|Q13945|Q5TEK4|Q5TEK5|Q5TEK6	Missense_Mutation	SNP	ENST00000329654.4	37	c.1348C>T	CCDS632.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.664363	0.88251	.	.	ENSG00000184588	ENST00000329654;ENST00000341517;ENST00000371049;ENST00000423207;ENST00000371045;ENST00000480109	D;D;D;D;D;D	0.88664	-2.41;-2.41;-2.41;-2.41;-2.41;-2.41	5.08	5.08	0.68730	Metal-dependent phosphohydrolase, HD domain (1);-cyclic nucleotide phosphodiesterase, conserved site (1);5&apos (3);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (3);	0.046253	0.85682	N	0.000000	D	0.96996	0.9019	H	0.98295	4.195	0.80722	D	1	P;D;D;D;D	0.89917	0.924;1.0;1.0;1.0;1.0	P;D;D;D;D	0.97110	0.707;1.0;1.0;1.0;1.0	D	0.98078	1.0402	10	0.87932	D	0	.	19.0331	0.92965	0.0:1.0:0.0:0.0	.	217;435;320;440;450	A5YW33;Q07343-3;Q13945;Q59GM8;Q07343	.;.;.;.;PDE4B_HUMAN	Y	450;450;450;435;278;217	ENSP00000332116:H450Y;ENSP00000342637:H450Y;ENSP00000360088:H450Y;ENSP00000392947:H435Y;ENSP00000360084:H278Y;ENSP00000432592:H217Y	ENSP00000332116:H450Y	H	+	1	0	PDE4B	66604001	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	7.609000	0.82925	2.802000	0.96397	0.655000	0.94253	CAT		0.418	PDE4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025188.3	NM_002600	
SLC44A3	126969	broad.mit.edu	37	1	95322914	95322914	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr1:95322914G>A	ENST00000271227.6	+	10	1198	c.1096G>A	c.(1096-1098)Ggc>Agc	p.G366S	SLC44A3_ENST00000530397.1_3'UTR|RP11-465K1.2_ENST00000422162.1_RNA|SLC44A3_ENST00000532427.1_Missense_Mutation_p.G286S|SLC44A3_ENST00000529450.1_Missense_Mutation_p.G334S|SLC44A3_ENST00000527077.1_Missense_Mutation_p.G298S|SLC44A3_ENST00000467909.1_Missense_Mutation_p.G318S|SLC44A3_ENST00000446120.2_Missense_Mutation_p.G330S	NM_001114106.2|NM_001258340.1|NM_001258341.1	NP_001107578.1|NP_001245269.1|NP_001245270.1	Q8N4M1	CTL3_HUMAN	solute carrier family 44, member 3	366					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	TATGGAAGGCGGCCAAGTGGA	0.458																																						uc001dqv.4																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23						c.(1096-1098)Ggc>Agc		Homo sapiens solute carrier family 44, member 3 (SLC44A3), transcript variant 1, mRNA.	Choline(DB00122)						129.0	115.0	120.0					1																	95322914		2203	4300	6503	SO:0001583	missense	126969					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr1:95322914G>A	BC033858	CCDS751.1, CCDS44176.1, CCDS58011.1, CCDS58012.1, CCDS58013.1, CCDS72827.1	1p22.1	2013-05-22	2005-09-06		ENSG00000143036	ENSG00000143036		"""Solute carriers"""	28689	protein-coding gene	gene with protein product			"""solute carrier family, member 3"""			15715662, 12975309	Standard	NM_001114106		Approved	MGC45474, CTL3	uc001dqv.5	Q8N4M1	OTTHUMG00000010700	ENST00000271227.6:c.1096G>A	1.37:g.95322914G>A	ENSP00000271227:p.Gly366Ser					SLC44A3_uc001dqx.4_Missense_Mutation_p.G366S|SLC44A3_uc010otq.2_Missense_Mutation_p.G298S|SLC44A3_uc010otr.2_Missense_Mutation_p.G330S|SLC44A3_uc001dqw.4_Missense_Mutation_p.G318S|SLC44A3_uc010ots.2_Missense_Mutation_p.G286S|SLC44A3_uc009wds.3_Missense_Mutation_p.G269S|SLC44A3_uc010ott.2_Missense_Mutation_p.G286S|SLC44A3_uc010otu.1_Non-coding_Transcript	p.G366S	NM_001114106	NP_689582	Q8N4M1	CTL3_HUMAN		all cancers(265;0.039)|Epithelial(280;0.124)	9	1203	+		all_lung(203;0.000712)|Lung NSC(277;0.00316)	366					B4DVY4|B4E1M4|B7ZA08|E9PJH2|E9PJY8|Q6UWT1|Q7Z6C5|Q9BWY7	Missense_Mutation	SNP	ENST00000271227.6	37	c.1096G>A	CCDS44176.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.950274	0.73787	.	.	ENSG00000143036	ENST00000446120;ENST00000271227;ENST00000527077;ENST00000529450;ENST00000467909;ENST00000532427	T;T;T;T;T;T	0.21191	2.02;2.02;2.02;2.02;2.02;2.02	4.7	4.7	0.59300	.	0.000000	0.64402	D	0.000019	T	0.32406	0.0828	L	0.46670	1.46	0.58432	D	0.999996	P;P;D;P;P	0.89917	0.944;0.815;1.0;0.944;0.944	B;B;D;B;B	0.97110	0.414;0.342;1.0;0.414;0.414	T	0.04737	-1.0930	10	0.54805	T	0.06	-18.0227	17.8262	0.88666	0.0:0.0:1.0:0.0	.	286;330;298;334;366	E9PIC5;Q8N4M1-3;E9PJY8;E9PJH2;Q8N4M1	.;.;.;.;CTL3_HUMAN	S	330;366;298;334;318;286	ENSP00000389143:G330S;ENSP00000271227:G366S;ENSP00000433641:G298S;ENSP00000431836:G334S;ENSP00000432789:G318S;ENSP00000436661:G286S	ENSP00000271227:G366S	G	+	1	0	SLC44A3	95095502	1.000000	0.71417	0.949000	0.38748	0.918000	0.54935	5.642000	0.67888	2.453000	0.82957	0.655000	0.94253	GGC		0.458	SLC44A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029544.3	NM_152369	
FLG2	388698	broad.mit.edu	37	1	152327770	152327770	+	Missense_Mutation	SNP	G	G	T			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr1:152327770G>T	ENST00000388718.5	-	3	2564	c.2492C>A	c.(2491-2493)tCt>tAt	p.S831Y	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	831	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCAAAGCCAGAGGATTGTCC	0.517																																						uc001ezw.4																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(2491-2493)tCt>tAt		Homo sapiens filaggrin family member 2 (FLG2), mRNA.							313.0	302.0	306.0					1																	152327770		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152327770G>T	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.2492C>A	1.37:g.152327770G>T	ENSP00000373370:p.Ser831Tyr					AK056431_uc001ezv.3_Intron	p.S831Y	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	2565	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		831			Ser-rich.		Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.2492C>A	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	G	11.23	1.578209	0.28180	.	.	ENSG00000143520	ENST00000388718	T	0.04015	3.73	4.72	3.8	0.43715	.	.	.	.	.	T	0.09069	0.0224	M	0.69823	2.125	0.09310	N	1	D	0.69078	0.997	D	0.64042	0.921	T	0.06881	-1.0802	9	0.56958	D	0.05	3.32	12.4267	0.55551	0.0:0.0:0.8307:0.1693	.	831	Q5D862	FILA2_HUMAN	Y	831	ENSP00000373370:S831Y	ENSP00000373370:S831Y	S	-	2	0	FLG2	150594394	0.012000	0.17670	0.006000	0.13384	0.002000	0.02628	0.944000	0.29043	1.130000	0.42092	-0.175000	0.13238	TCT		0.517	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342	
GORAB	92344	broad.mit.edu	37	1	170508571	170508571	+	Silent	SNP	C	C	T			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr1:170508571C>T	ENST00000367763.3	+	2	377	c.357C>T	c.(355-357)ccC>ccT	p.P119P	GORAB_ENST00000465717.1_3'UTR|GORAB_ENST00000367762.1_Silent_p.P119P	NM_152281.2	NP_689494.2	Q5T7V8	GORAB_HUMAN	golgin, RAB6-interacting	119						cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)				endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	17						TCACCTCCCCCGTTGGTGATG	0.468																																						uc001gha.2																			0				endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(355-357)ccC>ccT		Homo sapiens golgin, RAB6-interacting (GORAB), transcript variant 1, mRNA.							104.0	101.0	102.0					1																	170508571		2203	4300	6503	SO:0001819	synonymous_variant	92344					Golgi apparatus|nucleus		g.chr1:170508571C>T	AK021814	CCDS1289.1, CCDS53428.1	1q24.2	2009-02-13	2009-02-13	2009-02-13	ENSG00000120370	ENSG00000120370			25676	protein-coding gene	gene with protein product	"""gerodermia osteodysplastica"""	607983	"""SCY1-like 1 binding protein 1"""	SCYL1BP1		12783284, 15781263, 18997784	Standard	NM_152281		Approved	FLJ11752, NTKL-BP1, GO	uc001gha.2	Q5T7V8	OTTHUMG00000035228	ENST00000367763.3:c.357C>T	1.37:g.170508571C>T						GORAB_uc009wvw.2_3'UTR|GORAB_uc001ggz.4_Silent_p.P119P|GORAB_uc009wvx.2_5'UTR|GORAB_uc001ghb.2_5'UTR|GORAB_uc001ghc.2_5'UTR	p.P119P	NM_152281	NP_689494	Q5T7V8	GORAB_HUMAN			1	384	+			119					Q49A22|Q6P1P9|Q9HAE6|Q9Y350	Silent	SNP	ENST00000367763.3	37	c.357C>T	CCDS1289.1																																																																																				0.468	GORAB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085226.1	NM_152281	
NEK7	140609	broad.mit.edu	37	1	198262082	198262082	+	Silent	SNP	G	G	A	rs201676070		TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr1:198262082G>A	ENST00000367385.4	+	8	939	c.597G>A	c.(595-597)acG>acA	p.T199T	NEK7_ENST00000538004.1_Silent_p.T199T	NM_133494.2	NP_598001.1	Q8TDX7	NEK7_HUMAN	NIMA-related kinase 7	199	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokinesis (GO:0000910)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle (GO:0007346)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			endometrium(3)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21						CAGTTGGTACGCCTTATTACA	0.323													G|||	1	0.000199681	0.0	0.0	5008	,	,		15136	0.001		0.0	False		,,,				2504	0.0					uc001gun.4																			0				endometrium(3)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21						c.(595-597)acG>acA		Homo sapiens NIMA (never in mitosis gene a)-related kinase 7 (NEK7), mRNA.							170.0	181.0	177.0					1																	198262082		2203	4299	6502	SO:0001819	synonymous_variant	140609					cytoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr1:198262082G>A	AB062450	CCDS1394.1	1q31.3	2012-11-15	2012-11-15		ENSG00000151414	ENSG00000151414			13386	protein-coding gene	gene with protein product		606848	"""NIMA (never in mitosis gene a)-related kinase 7"""			11701951	Standard	NM_133494		Approved		uc001gun.4	Q8TDX7	OTTHUMG00000035658	ENST00000367385.4:c.597G>A	1.37:g.198262082G>A						NEK7_uc021pgx.1_Silent_p.T199T	p.T199T	NM_133494	NP_598001	Q8TDX7	NEK7_HUMAN			7	924	+			199			Protein kinase.		A6NGT8	Silent	SNP	ENST00000367385.4	37	c.597G>A	CCDS1394.1																																																																																				0.323	NEK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086550.2	NM_133494	
HNRNPU	3192	broad.mit.edu	37	1	245025769	245025769	+	Missense_Mutation	SNP	C	C	G			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr1:245025769C>G	ENST00000283179.9	-	3	1034	c.871G>C	c.(871-873)Gat>Cat	p.D291H	HNRNPU_ENST00000444376.2_Missense_Mutation_p.D272H|RP11-11N7.4_ENST00000610145.1_lincRNA			Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	291	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasmic ribonucleoprotein granule (GO:0036464)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			TTACAAGTATCAAGACAAACC	0.378																																					NSCLC(33;911 1010 3329 23631 49995)	uc001iaz.1																			0				NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(871-873)Gat>Cat		Homo sapiens heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A) (HNRNPU), transcript variant 1, mRNA.							128.0	120.0	123.0					1																	245025769		2203	4300	6503	SO:0001583	missense	3192				CRD-mediated mRNA stabilization	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding	g.chr1:245025769C>G	X65488	CCDS31081.1, CCDS41479.1	1q44	2011-10-24		2007-08-16	ENSG00000153187	ENSG00000153187			5048	protein-coding gene	gene with protein product		602869		HNRPU		7509195, 8068679	Standard	NM_031844		Approved	SAF-A, hnRNPU	uc001iaz.1	Q00839	OTTHUMG00000040396	ENST00000283179.9:c.871G>C	1.37:g.245025769C>G	ENSP00000283179:p.Asp291His					HNRNPU_uc001iay.1_5'Flank|HNRNPU_uc001iba.1_Missense_Mutation_p.D272H	p.D291H	NM_031844	NP_114032	Q00839	HNRPU_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00868)		2	1089	-	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		291			B30.2/SPRY.		O75507|Q8N174|Q96HY9|Q9BQ09	Missense_Mutation	SNP	ENST00000283179.9	37	c.871G>C	CCDS41479.1	.	.	.	.	.	.	.	.	.	.	C	32	5.127672	0.94473	.	.	ENSG00000153187	ENST00000444376;ENST00000283179;ENST00000427948;ENST00000440865	T;T;T	0.80653	-1.4;-1.4;-1.4	5.42	5.42	0.78866	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.000000	0.85682	D	0.000000	D	0.91958	0.7453	M	0.90252	3.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.993	D	0.93276	0.6656	10	0.87932	D	0	-19.8294	19.2214	0.93797	0.0:1.0:0.0:0.0	.	272;291	Q00839-2;Q00839	.;HNRPU_HUMAN	H	272;291;216;68	ENSP00000393151:D272H;ENSP00000283179:D291H;ENSP00000410728:D68H	ENSP00000283179:D291H	D	-	1	0	HNRNPU	243092392	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.800000	0.85949	2.543000	0.85770	0.650000	0.86243	GAT		0.378	HNRNPU-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097163.3	NM_031844	
FAM208B	54906	broad.mit.edu	37	10	5804609	5804609	+	Splice_Site	SNP	G	G	A			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr10:5804609G>A	ENST00000328090.5	+	20	7914	c.7289G>A	c.(7288-7290)tGg>tAg	p.W2430*	GDI2_ENST00000479928.1_5'Flank	NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	2430																	AGTAGCTATTGGTAAGAACAC	0.343																																						uc001iij.3																			0											c.e20+1		Homo sapiens family with sequence similarity 208, member B (FAM208B), mRNA.							64.0	63.0	64.0					10																	5804609		1840	4076	5916	SO:0001630	splice_region_variant	54906							g.chr10:5804609G>A	BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.7289+1G>A	10.37:g.5804609G>A						FAM208B_uc001iik.3_Splice_Site_p.W1274_splice	p.W2430_splice	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN			20	7914	+			2430					Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Nonsense_Mutation	SNP	ENST00000328090.5	37	c.7289_splice	CCDS41485.1	.	.	.	.	.	.	.	.	.	.	G	51	18.454878	0.99905	.	.	ENSG00000108021	ENST00000328090;ENST00000442808	.	.	.	6.01	6.01	0.97437	.	0.000000	0.64402	D	0.000017	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.5971	0.56476	0.0763:0.0:0.9237:0.0	.	.	.	.	X	2430;1625	.	ENSP00000328426:W2430X	W	+	2	0	C10orf18	5844615	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	6.644000	0.74338	2.861000	0.98227	0.650000	0.86243	TGG		0.343	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	NM_017782	Nonsense_Mutation
MYO3A	53904	broad.mit.edu	37	10	26414537	26414537	+	Splice_Site	SNP	G	G	T	rs141374777		TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr10:26414537G>T	ENST00000265944.5	+	19	2280	c.2114G>T	c.(2113-2115)aGt>aTt	p.S705I	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	705	Myosin motor.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TCATCACCAAGGTAAAAATTT	0.338																																						uc001isn.2																			0				NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						c.e19+1		Homo sapiens myosin IIIA (MYO3A), mRNA.							60.0	64.0	63.0					10																	26414537		2203	4300	6503	SO:0001630	splice_region_variant	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26414537G>T	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.2114+1G>T	10.37:g.26414537G>T						MYO3A_uc009xko.1_Splice_Site_p.S705_splice|MYO3A_uc009xkp.1_Splice_Site|MYO3A_uc009xkq.1_Intron	p.S705_splice	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN			19	2474	+			705			Myosin head-like.		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	c.2114_splice	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	G	13.79	2.343049	0.41498	.	.	ENSG00000095777	ENST00000265944	T	0.78707	-1.2	5.77	5.77	0.91146	Myosin head, motor domain (2);	0.126842	0.64402	D	0.000001	D	0.82802	0.5116	M	0.68952	2.095	0.80722	D	1	P	0.45531	0.86	P	0.53313	0.723	T	0.81495	-0.0907	10	0.38643	T	0.18	.	14.1745	0.65532	0.0716:0.0:0.9284:0.0	.	705	Q8NEV4	MYO3A_HUMAN	I	705	ENSP00000265944:S705I	ENSP00000265944:S705I	S	+	2	0	MYO3A	26454543	1.000000	0.71417	0.997000	0.53966	0.971000	0.66376	6.895000	0.75660	2.712000	0.92718	0.585000	0.79938	AGT		0.338	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433	Missense_Mutation
MPP7	143098	broad.mit.edu	37	10	28378639	28378639	+	Nonsense_Mutation	SNP	G	G	A			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr10:28378639G>A	ENST00000375732.1	-	12	1343	c.1084C>T	c.(1084-1086)Cga>Tga	p.R362*	MPP7_ENST00000337532.5_Nonsense_Mutation_p.R362*|MPP7_ENST00000445954.2_Nonsense_Mutation_p.R237*|MPP7_ENST00000375719.3_Nonsense_Mutation_p.R362*|MPP7_ENST00000540098.1_Nonsense_Mutation_p.R362*			Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	362					establishment of cell polarity (GO:0030010)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of signal transduction (GO:0009967)|protein localization to adherens junction (GO:0071896)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cell junction (GO:0030054)|mitochondrion (GO:0005739)|MPP7-DLG1-LIN7 complex (GO:0097025)|tight junction (GO:0005923)	protein complex scaffold (GO:0032947)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|signaling adaptor activity (GO:0035591)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						TTAGTTTGTCGCCGATACGGT	0.383																																						uc001iua.1																			0		p.R361Q(1)		autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						c.(1084-1086)Cga>Tga		Homo sapiens membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) (MPP7), mRNA.							349.0	287.0	308.0					10																	28378639		2203	4300	6503	SO:0001587	stop_gained	143098				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity	g.chr10:28378639G>A	BC038105	CCDS7158.1	10p12.1	2004-01-15			ENSG00000150054	ENSG00000150054			26542	protein-coding gene	gene with protein product		610973				14719143	Standard	NM_173496		Approved	FLJ32798	uc001iua.1	Q5T2T1	OTTHUMG00000017868	ENST00000375732.1:c.1084C>T	10.37:g.28378639G>A	ENSP00000364884:p.Arg362*					MPP7_uc009xkz.1_Non-coding_Transcript|MPP7_uc001iub.1_Nonsense_Mutation_p.R362*|MPP7_uc009xla.2_Nonsense_Mutation_p.R362*|MPP7_uc010qdv.1_Non-coding_Transcript	p.R362*	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN			13	1488	-			362					B2RCC9|B4DWL9|B5MDZ3|D3DRW3|Q5T2T0|Q8IY28	Nonsense_Mutation	SNP	ENST00000375732.1	37	c.1084C>T	CCDS7158.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.309416	0.81247	.	.	ENSG00000150054	ENST00000375732;ENST00000337532;ENST00000540098;ENST00000375719;ENST00000441595;ENST00000445954	.	.	.	5.64	4.73	0.59995	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.0824	0.81014	0.0:0.0:0.8653:0.1347	.	.	.	.	X	362;362;362;362;123;237	.	ENSP00000337907:R362X	R	-	1	2	MPP7	28418645	1.000000	0.71417	0.987000	0.45799	0.254000	0.26022	4.685000	0.61693	1.343000	0.45638	0.655000	0.94253	CGA		0.383	MPP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047345.1	NM_173496	
RUFY2	55680	broad.mit.edu	37	10	70139220	70139220	+	Missense_Mutation	SNP	G	G	T			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr10:70139220G>T	ENST00000602465.1	-	12	1266	c.1166C>A	c.(1165-1167)aCc>aAc	p.T389N	RUFY2_ENST00000454950.2_Missense_Mutation_p.T331N|RUFY2_ENST00000265865.3_5'Flank|RUFY2_ENST00000472394.2_5'Flank|RUFY2_ENST00000388768.2_Missense_Mutation_p.T424N|RUFY2_ENST00000399200.2_Missense_Mutation_p.T355N			Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	438						nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						AATTTTATTGGTTTTTTCTTC	0.338																																						uc001job.3																			0				NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						c.(1270-1272)aCc>aAc		Homo sapiens RUN and FYVE domain containing 2 (RUFY2), transcript variant 1, mRNA.							117.0	118.0	118.0					10																	70139220		1826	4078	5904	SO:0001583	missense	55680					nucleus	metal ion binding	g.chr10:70139220G>T	AF461266	CCDS41534.1, CCDS44414.1, CCDS60544.1	10q22.2	2007-01-29			ENSG00000204130	ENSG00000204130		"""Zinc fingers, FYVE domain containing"""	19761	protein-coding gene	gene with protein product		610328				11877430	Standard	NM_001042417		Approved	RABIP4R, FLJ10063, KIAA1537, ZFYVE13	uc001job.3	Q8WXA3	OTTHUMG00000018353	ENST00000602465.1:c.1166C>A	10.37:g.70139220G>T	ENSP00000473462:p.Thr389Asn					RUFY2_uc001jnz.1_Non-coding_Transcript|RUFY2_uc001joa.3_5'Flank|RUFY2_uc001joc.3_Missense_Mutation_p.T355N|RUFY2_uc010qiw.2_Missense_Mutation_p.T331N|RUFY2_uc001jod.1_Missense_Mutation_p.T389N	p.T424N	NM_017987	NP_060457	Q8WXA3	RUFY2_HUMAN			11	1598	-			438					B3KXB2|B4DFR0|Q5TC48|Q8IW33|Q96P51|Q9P1Z1	Missense_Mutation	SNP	ENST00000602465.1	37	c.1271C>A		.	.	.	.	.	.	.	.	.	.	G	14.47	2.545016	0.45280	.	.	ENSG00000204130	ENST00000388768;ENST00000399200;ENST00000454950	T;T;T	0.54479	0.57;1.86;1.44	4.84	2.9	0.33743	.	0.106288	0.64402	N	0.000005	T	0.53029	0.1771	L	0.49455	1.56	0.53005	D	0.999965	P;P;B;B	0.50819	0.608;0.939;0.0;0.001	B;P;B;B	0.50934	0.115;0.654;0.001;0.007	T	0.46289	-0.9202	10	0.16896	T	0.51	.	13.7045	0.62629	0.0:0.0:0.7038:0.2962	.	331;389;355;424	B4DFR0;Q8WXA3-2;Q8WXA3-4;Q8WXA3-3	.;.;.;.	N	424;355;331	ENSP00000373420:T424N;ENSP00000382151:T355N;ENSP00000404986:T331N	ENSP00000373420:T424N	T	-	2	0	RUFY2	69809226	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	4.722000	0.61958	0.681000	0.31386	0.491000	0.48974	ACC		0.338	RUFY2-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467567.1	NM_017987	
ZMIZ1	57178	broad.mit.edu	37	10	81058831	81058831	+	Missense_Mutation	SNP	T	T	G			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr10:81058831T>G	ENST00000334512.5	+	16	2263	c.1691T>G	c.(1690-1692)cTc>cGc	p.L564R		NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	564					artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			GAGCTGCGGCTCACATTCCCT	0.647																																						uc001kaf.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30						c.(1690-1692)cTc>cGc		Homo sapiens zinc finger, MIZ-type containing 1 (ZMIZ1), mRNA.							78.0	57.0	64.0					10																	81058831		2203	4300	6503	SO:0001583	missense	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81058831T>G	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"""Zinc fingers, MIZ-type"""	16493	protein-coding gene	gene with protein product		607159	"""retinoic acid induced 17"""	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.1691T>G	10.37:g.81058831T>G	ENSP00000334474:p.Leu564Arg					ZMIZ1_uc001kag.2_Missense_Mutation_p.L440R	p.L564R	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		15	2263	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		564					Q5JSH9|Q7Z7E6	Missense_Mutation	SNP	ENST00000334512.5	37	c.1691T>G	CCDS7357.1	.	.	.	.	.	.	.	.	.	.	T	32	5.133192	0.94517	.	.	ENSG00000108175	ENST00000334512;ENST00000360331;ENST00000372347	T	0.55930	0.49	5.6	5.6	0.85130	.	0.000000	0.36854	N	0.002364	T	0.75627	0.3875	M	0.85099	2.735	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.79529	-0.1766	10	0.59425	D	0.04	-26.2256	15.7893	0.78343	0.0:0.0:0.0:1.0	.	564	Q9ULJ6	ZMIZ1_HUMAN	R	564;494;470	ENSP00000334474:L564R	ENSP00000334474:L564R	L	+	2	0	ZMIZ1	80728837	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.693000	0.84214	2.130000	0.65690	0.477000	0.44152	CTC		0.647	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338	
MAPK8IP1	9479	broad.mit.edu	37	11	45923593	45923593	+	Silent	SNP	A	A	T			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr11:45923593A>T	ENST00000241014.2	+	4	755	c.585A>T	c.(583-585)tcA>tcT	p.S195S	MAPK8IP1_ENST00000395629.2_Silent_p.S185S	NM_005456.3	NP_005447.1	Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting protein 1	195	JNK-binding domain (JBD).				JUN phosphorylation (GO:0007258)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|positive regulation of signal transduction (GO:0009967)|regulation of JNK cascade (GO:0046328)|regulation of transcription, DNA-templated (GO:0006355)|vesicle-mediated transport (GO:0016192)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic growth cone (GO:0044294)|dentate gyrus mossy fiber (GO:0044302)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)|protein kinase inhibitor activity (GO:0004860)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		TGTCTCGATCATCCTCACCCC	0.527																																						uc001nbr.3																			0		p.R194R(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24						c.(583-585)tcA>tcT		Homo sapiens mitogen-activated protein kinase 8 interacting protein 1 (MAPK8IP1), mRNA.							190.0	184.0	186.0					11																	45923593		2203	4299	6502	SO:0001819	synonymous_variant	9479				vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity	g.chr11:45923593A>T		CCDS7916.1	11p11.2	2009-07-24			ENSG00000121653	ENSG00000121653			6882	protein-coding gene	gene with protein product		604641		PRKM8IP		9235893, 9442013	Standard	NM_005456		Approved	IB1, JIP-1, JIP1	uc001nbr.3	Q9UQF2	OTTHUMG00000134324	ENST00000241014.2:c.585A>T	11.37:g.45923593A>T							p.S195S	NM_005456	NP_005447	Q9UQF2	JIP1_HUMAN		GBM - Glioblastoma multiforme(35;0.231)	3	910	+			195			JNK-binding domain (JBD).		D3DQP4|O43407	Silent	SNP	ENST00000241014.2	37	c.585A>T	CCDS7916.1																																																																																				0.527	MAPK8IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259405.1	NM_005456	
DLAT	1737	broad.mit.edu	37	11	111899615	111899615	+	Silent	SNP	G	G	A	rs148153443	byFrequency	TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr11:111899615G>A	ENST00000280346.6	+	4	1265	c.606G>A	c.(604-606)tcG>tcA	p.S202S	DLAT_ENST00000537636.1_Intron|DLAT_ENST00000393051.1_Silent_p.S202S	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase	202					cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial pyruvate dehydrogenase complex (GO:0005967)|mitochondrion (GO:0005739)	dihydrolipoyllysine-residue acetyltransferase activity (GO:0004742)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)		CCACTGCTTCGCCACCTACAC	0.532																																						uc001pmo.3																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22						c.(604-606)tcG>tcA		Homo sapiens dihydrolipoamide S-acetyltransferase (DLAT), nuclear gene encoding mitochondrial protein, mRNA.	NADH(DB00157)	G		1,4401	2.1+/-5.4	0,1,2200	88.0	86.0	87.0		606	-10.8	0.0	11	dbSNP_134	87	0,8594		0,0,4297	no	coding-synonymous	DLAT	NM_001931.4		0,1,6497	AA,AG,GG		0.0,0.0227,0.0077		202/648	111899615	1,12995	2201	4297	6498	SO:0001819	synonymous_variant	1737				glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial pyruvate dehydrogenase complex	dihydrolipoyllysine-residue acetyltransferase activity|protein binding	g.chr11:111899615G>A	Y00978	CCDS8354.1	11q23.1	2008-02-05	2008-02-04		ENSG00000150768	ENSG00000150768	2.3.1.12		2896	protein-coding gene	gene with protein product	"""E2 component of pyruvate dehydrogenase complex"""	608770		DLTA		8102256	Standard	NM_001931		Approved	PDC-E2	uc001pmo.3	P10515	OTTHUMG00000133751	ENST00000280346.6:c.606G>A	11.37:g.111899615G>A						DLAT_uc010rwr.2_Intron|DLAT_uc021qqn.1_Silent_p.S146S	p.S202S	NM_001931	NP_001922	P10515	ODP2_HUMAN		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)	3	1265	+		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)	202					Q16783|Q53EP3	Silent	SNP	ENST00000280346.6	37	c.606G>A	CCDS8354.1																																																																																				0.532	DLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258167.1	NM_001931	
HTR3A	3359	broad.mit.edu	37	11	113857602	113857602	+	Silent	SNP	C	C	A			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr11:113857602C>A	ENST00000504030.2	+	8	1417	c.972C>A	c.(970-972)atC>atA	p.I324I	HTR3A_ENST00000375498.2_Silent_p.I330I|HTR3A_ENST00000299961.5_Silent_p.I309I|HTR3A_ENST00000506841.2_Silent_p.I356I|HTR3A_ENST00000355556.2_Silent_p.I362I|HTR3A_ENST00000535865.1_Silent_p.I68I			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	324					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cellular response to growth factor stimulus (GO:0071363)|digestion (GO:0007586)|ion transmembrane transport (GO:0034220)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246)	CCGAGACCATCTTCATTGTGC	0.582																																						uc010rxb.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36						c.(1084-1086)atC>atA		Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3A (HTR3A), transcript variant 1, mRNA.	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)						89.0	76.0	80.0					11																	113857602		2201	4296	6497	SO:0001819	synonymous_variant	3359				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	g.chr11:113857602C>A	D49394	CCDS8365.1, CCDS8366.1, CCDS8365.2, CCDS8366.2, CCDS53710.1	11q23.1-q23.2	2012-05-22	2012-02-03					"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	5297	protein-coding gene	gene with protein product		182139	"""5-hydroxytryptamine (serotonin) receptor 3A"""	HTR3		8530095, 12867984	Standard	NM_000869		Approved	5-HT3R, 5-HT3A	uc010rxb.2	P46098		ENST00000504030.2:c.972C>A	11.37:g.113857602C>A						HTR3A_uc010rxa.2_Silent_p.I330I|HTR3A_uc009yyx.3_Non-coding_Transcript|HTR3A_uc010rxc.2_Silent_p.I309I	p.I362I	NM_213621	NP_998786	P46098	5HT3A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	6	1319	+		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)	324					B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Silent	SNP	ENST00000504030.2	37	c.1086C>A																																																																																					0.582	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000360822.2	NM_000869	
HTR3A	3359	broad.mit.edu	37	11	113857614	113857614	+	Silent	SNP	G	G	C			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr11:113857614G>C	ENST00000504030.2	+	8	1429	c.984G>C	c.(982-984)cgG>cgC	p.R328R	HTR3A_ENST00000375498.2_Silent_p.R334R|HTR3A_ENST00000299961.5_Silent_p.R313R|HTR3A_ENST00000506841.2_Silent_p.R360R|HTR3A_ENST00000355556.2_Silent_p.R366R|HTR3A_ENST00000535865.1_Silent_p.R72R			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	328					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cellular response to growth factor stimulus (GO:0071363)|digestion (GO:0007586)|ion transmembrane transport (GO:0034220)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246)	TCATTGTGCGGCTGGTGCACA	0.572																																						uc010rxb.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36						c.(1096-1098)cgG>cgC		Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3A (HTR3A), transcript variant 1, mRNA.	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)						78.0	67.0	71.0					11																	113857614		2201	4296	6497	SO:0001819	synonymous_variant	3359				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	g.chr11:113857614G>C	D49394	CCDS8365.1, CCDS8366.1, CCDS8365.2, CCDS8366.2, CCDS53710.1	11q23.1-q23.2	2012-05-22	2012-02-03					"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	5297	protein-coding gene	gene with protein product		182139	"""5-hydroxytryptamine (serotonin) receptor 3A"""	HTR3		8530095, 12867984	Standard	NM_000869		Approved	5-HT3R, 5-HT3A	uc010rxb.2	P46098		ENST00000504030.2:c.984G>C	11.37:g.113857614G>C						HTR3A_uc010rxa.2_Silent_p.R334R|HTR3A_uc009yyx.3_Non-coding_Transcript|HTR3A_uc010rxc.2_Silent_p.R313R	p.R366R	NM_213621	NP_998786	P46098	5HT3A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	6	1331	+		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)	328					B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Silent	SNP	ENST00000504030.2	37	c.1098G>C																																																																																					0.572	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000360822.2	NM_000869	
APOA5	116519	broad.mit.edu	37	11	116661604	116661604	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr11:116661604G>A	ENST00000227665.4	-	3	375	c.341C>T	c.(340-342)gCg>gTg	p.A114V	APOA5_ENST00000542499.1_Missense_Mutation_p.A114V|ZNF259_ENST00000227322.3_5'Flank			Q6Q788	APOA5_HUMAN	apolipoprotein A-V	114					acylglycerol homeostasis (GO:0055090)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|organ regeneration (GO:0031100)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|tissue regeneration (GO:0042246)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)	chylomicron (GO:0042627)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|lipase activator activity (GO:0060229)|lipase binding (GO:0035473)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|lipoprotein particle receptor binding (GO:0070325)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylcholine binding (GO:0031210)|phospholipid binding (GO:0005543)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	14	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)		CAGCTCGTGCGCCTCTGCCAT	0.662																																						uc009yzg.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	14						c.(418-420)gCg>gTg		Homo sapiens apolipoprotein A-V (APOA5), transcript variant 2, mRNA.							59.0	58.0	58.0					11																	116661604		2201	4296	6497	SO:0001583	missense	116519				acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis	chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding	g.chr11:116661604G>A	AF202889	CCDS8376.2	11q23	2013-01-24			ENSG00000110243	ENSG00000110243		"""Apolipoproteins"""	17288	protein-coding gene	gene with protein product		606368				11588264, 11577099	Standard	NM_001166598		Approved	RAP3, APOA-V	uc009yzf.3	Q6Q788	OTTHUMG00000046116	ENST00000227665.4:c.341C>T	11.37:g.116661604G>A	ENSP00000227665:p.Ala114Val					ZNF259_uc001ppp.3_5'Flank|APOA5_uc001ppr.3_Missense_Mutation_p.A114V|APOA5_uc009yzf.3_Missense_Mutation_p.A114V	p.A140V			Q6Q788	APOA5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)	1	851	-	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)	114					B0YIV9|Q3MIK6|Q6UWK9|Q9UBJ3	Missense_Mutation	SNP	ENST00000227665.4	37	c.419C>T	CCDS8376.2	.	.	.	.	.	.	.	.	.	.	G	4.420	0.077664	0.08485	.	.	ENSG00000110243	ENST00000227665;ENST00000542499;ENST00000433069	T;T;T	0.71579	-0.58;-0.58;-0.58	4.98	-2.12	0.07165	Apolipoprotein/apolipophorin (1);	0.678240	0.13277	N	0.400031	T	0.31167	0.0788	N	0.01505	-0.83	0.19300	N	0.999978	B;B	0.11235	0.004;0.001	B;B	0.08055	0.003;0.001	T	0.31081	-0.9956	10	0.07030	T	0.85	-2.6245	4.2955	0.10899	0.4237:0.0:0.3754:0.2009	.	111;114	B0YIW1;Q6Q788	.;APOA5_HUMAN	V	114	ENSP00000227665:A114V;ENSP00000445002:A114V;ENSP00000399701:A114V	ENSP00000227665:A114V	A	-	2	0	APOA5	116166814	0.000000	0.05858	0.036000	0.18154	0.981000	0.71138	-0.533000	0.06157	-0.576000	0.05974	0.650000	0.86243	GCG		0.662	APOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106285.2		
GRIP1	23426	broad.mit.edu	37	12	66786170	66786170	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr12:66786170C>T	ENST00000398016.3	-	18	2294	c.2226G>A	c.(2224-2226)atG>atA	p.M742I	GRIP1_ENST00000542021.1_5'Flank|GRIP1_ENST00000359742.4_Missense_Mutation_p.M794I|GRIP1_ENST00000286445.7_Missense_Mutation_p.M794I	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0					intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		TGGAGGGGTACATGTCGGAGA	0.537																																						uc001stk.3																			0				NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50						c.(2224-2226)atG>atA		Homo sapiens glutamate receptor interacting protein 1 (GRIP1), transcript variant 1, mRNA.							146.0	147.0	147.0					12																	66786170		2035	4186	6221	SO:0001583	missense	23426				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity	g.chr12:66786170C>T	AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.2226G>A	12.37:g.66786170C>T	ENSP00000381098:p.Met742Ile					GRIP1_uc010sta.1_Missense_Mutation_p.M686I|GRIP1_uc001stj.3_Missense_Mutation_p.M524I|GRIP1_uc001stm.3_Missense_Mutation_p.M742I|GRIP1_uc001stl.1_Missense_Mutation_p.M634I	p.M742I	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)	17	2467	-			794			PDZ 6.		B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	ENST00000398016.3	37	c.2226G>A	CCDS41807.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	2.284|2.284	-0.364016|-0.364016	0.05103|0.05103	.|.	.|.	ENSG00000155974|ENSG00000155974	ENST00000538164|ENST00000398016;ENST00000359742;ENST00000286445;ENST00000538211;ENST00000540433;ENST00000536215	.|T;T;T;T;T;T	.|0.71341	.|-0.56;-0.56;-0.56;-0.56;-0.56;-0.56	4.83|4.83	0.694|0.694	0.18062|0.18062	.|.	.|0.636130	.|0.18248	.|N	.|0.147022	T|T	0.27900|0.27900	0.0687|0.0687	N|N	0.00621|0.00621	-1.32|-1.32	0.19775|0.19775	N|N	0.999955|0.999955	.|B;B;B;B	.|0.02656	.|0.0;0.0;0.0;0.0	.|B;B;B;B	.|0.01281	.|0.0;0.0;0.0;0.0	T|T	0.22591|0.22591	-1.0212|-1.0212	5|9	.|.	.|.	.|.	-1.0011|-1.0011	1.1414|1.1414	0.01766|0.01766	0.2765:0.3144:0.246:0.1631|0.2765:0.3144:0.246:0.1631	.|.	.|742;794;742;794	.|F5H4N6;Q9Y3R0;Q9Y3R0-3;Q9Y3R0-2	.|.;GRIP1_HUMAN;.;.	Y|I	609|742;794;794;742;686;634	.|ENSP00000381098:M742I;ENSP00000352780:M794I;ENSP00000286445:M794I;ENSP00000446047:M742I;ENSP00000446024:M686I;ENSP00000446011:M634I	.|.	C|M	-|-	2|3	0|0	GRIP1|GRIP1	65072437|65072437	0.260000|0.260000	0.24053|0.24053	0.761000|0.761000	0.31378|0.31378	0.150000|0.150000	0.21749|0.21749	-0.029000|-0.029000	0.12329|0.12329	0.345000|0.345000	0.23873|0.23873	0.561000|0.561000	0.74099|0.74099	TGT|ATG		0.537	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401975.2		
GOLGA3	2802	broad.mit.edu	37	12	133381337	133381337	+	Missense_Mutation	SNP	T	T	A			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr12:133381337T>A	ENST00000450791.2	-	6	1745	c.1562A>T	c.(1561-1563)gAc>gTc	p.D521V	GOLGA3_ENST00000456883.2_Missense_Mutation_p.D521V|GOLGA3_ENST00000545875.1_Missense_Mutation_p.D521V|GOLGA3_ENST00000537452.1_Missense_Mutation_p.D521V|GOLGA3_ENST00000204726.3_Missense_Mutation_p.D521V			Q08378	GOGA3_HUMAN	golgin A3	521					intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		CCTCTGCATGTCCTCTACCTT	0.607																																						uc001ukz.1																			0				breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(1561-1563)gAc>gTc		Homo sapiens golgin A3 (GOLGA3), transcript variant 1, mRNA.							143.0	105.0	118.0					12																	133381337		2203	4300	6503	SO:0001583	missense	2802				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	g.chr12:133381337T>A	AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"""SY2/SY10 protein"", ""Golgi complex-associated protein of 170 kD"""	602581	"""golgi autoantigen, golgin subfamily a, 3"""			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.1562A>T	12.37:g.133381337T>A	ENSP00000410378:p.Asp521Val					GOLGA3_uc021rgt.1_Non-coding_Transcript|GOLGA3_uc001ula.1_Missense_Mutation_p.D521V|GOLGA3_uc001ulb.3_Missense_Mutation_p.D521V	p.D521V	NM_005895	NP_005886	Q08378	GOGA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)	6	2121	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	521					A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	ENST00000450791.2	37	c.1562A>T	CCDS9281.1	.	.	.	.	.	.	.	.	.	.	T	14.99	2.701134	0.48307	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883;ENST00000537452;ENST00000545875	T;T;T;T;T	0.80123	-1.34;-1.34;-1.34;-1.34;-1.34	5.52	4.35	0.52113	.	0.140515	0.64402	D	0.000004	T	0.70281	0.3206	N	0.19112	0.55	0.80722	D	1	P;P;P	0.45827	0.867;0.785;0.57	B;B;B	0.42495	0.295;0.295;0.389	T	0.72714	-0.4210	10	0.66056	D	0.02	.	12.8465	0.57833	0.0:0.0:0.136:0.864	.	521;521;521	Q08378-4;Q08378-2;Q08378	.;.;GOGA3_HUMAN	V	521	ENSP00000204726:D521V;ENSP00000410378:D521V;ENSP00000409303:D521V;ENSP00000442143:D521V;ENSP00000442603:D521V	ENSP00000204726:D521V	D	-	2	0	GOLGA3	131891410	1.000000	0.71417	0.990000	0.47175	0.060000	0.15804	6.202000	0.72131	0.885000	0.36088	0.459000	0.35465	GAC		0.607	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	NM_005895	
BRCA2	675	broad.mit.edu	37	13	32914389	32914389	+	Missense_Mutation	SNP	A	A	G	rs80358823|rs397507811		TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr13:32914389A>G	ENST00000380152.3	+	11	6130	c.5897A>G	c.(5896-5898)cAt>cGt	p.H1966R	BRCA2_ENST00000544455.1_Missense_Mutation_p.H1966R			P51587	BRCA2_HUMAN	breast cancer 2, early onset	1966					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GGGAAGCTTCATAAGTCAGTC	0.358			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	uc001uub.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	"""D, Mis, N, F, S"""	familial breast/ovarian cancer gene 2			"""L, E"""		"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""	"""breast, ovarian, pancreatic"""		0				NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183						c.(5896-5898)cAt>cGt	Homologous recombination	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.							86.0	94.0	92.0					13																	32914389		2202	4299	6501	SO:0001583	missense	675	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32914389A>G	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.5897A>G	13.37:g.32914389A>G	ENSP00000369497:p.His1966Arg	TCGA Ovarian(8;0.087)					p.H1966R	NM_000059	NP_000050	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	10	6124	+		Lung SC(185;0.0262)	1966					O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	c.5897A>G	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	A	1.562	-0.536520	0.04082	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.00675	5.88;5.88	5.58	2.92	0.33932	.	0.536026	0.18578	N	0.137129	T	0.00496	0.0016	N	0.08118	0	0.09310	N	1	B	0.14438	0.01	B	0.06405	0.002	T	0.50775	-0.8788	10	0.66056	D	0.02	.	2.3968	0.04392	0.1167:0.4995:0.1638:0.22	.	1966	P51587	BRCA2_HUMAN	R	1966	ENSP00000369497:H1966R;ENSP00000439902:H1966R	ENSP00000369497:H1966R	H	+	2	0	BRCA2	31812389	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.661000	0.25023	0.303000	0.22785	-0.132000	0.14878	CAT		0.358	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059	
SLITRK6	84189	broad.mit.edu	37	13	86370282	86370282	+	Missense_Mutation	SNP	T	T	G			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr13:86370282T>G	ENST00000400286.2	-	2	960	c.362A>C	c.(361-363)cAc>cCc	p.H121P		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	121					adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TAAAGAATTGTGATTGATATG	0.353																																						uc001vll.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(361-363)cAc>cCc		Homo sapiens SLIT and NTRK-like family, member 6 (SLITRK6), mRNA.							111.0	103.0	106.0					13																	86370282		1829	4079	5908	SO:0001583	missense	84189					integral to membrane		g.chr13:86370282T>G	AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.362A>C	13.37:g.86370282T>G	ENSP00000383143:p.His121Pro					SLITRK6_uc021rla.1_Missense_Mutation_p.H121P	p.H121P	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN		GBM - Glioblastoma multiforme(99;0.0456)	1	821	-	all_neural(89;0.117)|Medulloblastoma(90;0.163)		121					A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Missense_Mutation	SNP	ENST00000400286.2	37	c.362A>C	CCDS41903.1	.	.	.	.	.	.	.	.	.	.	T	14.63	2.592841	0.46214	.	.	ENSG00000184564	ENST00000400286	T	0.53640	0.61	6.17	6.17	0.99709	.	0.097761	0.64402	D	0.000001	T	0.67933	0.2946	M	0.85859	2.78	0.53005	D	0.999966	D	0.67145	0.996	P	0.56788	0.806	T	0.73557	-0.3945	10	0.66056	D	0.02	-14.6203	15.6463	0.77055	0.0:0.0:0.0:1.0	.	121	Q9H5Y7	SLIK6_HUMAN	P	121	ENSP00000383143:H121P	ENSP00000383143:H121P	H	-	2	0	SLITRK6	85268283	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.087000	0.71362	2.371000	0.80710	0.533000	0.62120	CAC		0.353	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045404.2	NM_032229	
SALL2	6297	broad.mit.edu	37	14	21991030	21991030	+	Missense_Mutation	SNP	G	G	T	rs376899745		TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr14:21991030G>T	ENST00000327430.3	-	2	3126	c.2832C>A	c.(2830-2832)ttC>ttA	p.F944L	AE000658.22_ENST00000535893.1_RNA|SALL2_ENST00000538754.1_Intron|SALL2_ENST00000317492.5_Intron|SALL2_ENST00000450879.2_Missense_Mutation_p.F807L	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	944					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)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		CCTGCCTGCAGAAAACACAAG	0.597																																						uc001wbe.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43						c.(2830-2832)ttC>ttA		Homo sapiens sal-like 2 (Drosophila) (SALL2), mRNA.							50.0	52.0	52.0					14																	21991030		2203	4300	6503	SO:0001583	missense	6297						DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:21991030G>T	AB002358	CCDS32045.1	14q11.1-q12.1	2013-10-17	2013-10-17		ENSG00000165821	ENSG00000165821		"""Zinc fingers, C2H2-type"""	10526	protein-coding gene	gene with protein product		602219	"""sal (Drosophila)-like 2"", ""sal-like 2 (Drosophila)"""			8975705	Standard	XM_005267983		Approved	KIAA0360, Hsal2, ZNF795	uc001wbe.3	Q9Y467	OTTHUMG00000168826	ENST00000327430.3:c.2832C>A	14.37:g.21991030G>T	ENSP00000333537:p.Phe944Leu					SALL2_uc010tly.2_Missense_Mutation_p.F942L|SALL2_uc010tlz.1_Missense_Mutation_p.F807L|SALL2_uc001wbf.3_Intron|SALL2_uc010tma.1_Missense_Mutation_p.F809L|SALL2_uc001wbg.1_Intron	p.F944L	NM_005407	NP_005398	Q9Y467	SALL2_HUMAN		GBM - Glioblastoma multiforme(265;0.0151)	1	3114	-	all_cancers(95;0.000662)		944					B2RMX6|B9EGK8|Q8N656|Q9Y4G1	Missense_Mutation	SNP	ENST00000327430.3	37	c.2832C>A	CCDS32045.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.57|10.57	1.386735|1.386735	0.25031|0.25031	.|.	.|.	ENSG00000165821|ENSG00000165821	ENST00000327430;ENST00000450879|ENST00000546363	T;T|.	0.16457|.	2.34;2.34|.	4.79|4.79	2.96|2.96	0.34315|0.34315	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	0.191937|.	0.25714|.	N|.	0.028792|.	T|T	0.24928|0.24928	0.0605|0.0605	N|N	0.14661|0.14661	0.345|0.345	0.30670|0.30670	N|N	0.753475|0.753475	B;B;B;B|.	0.21688|.	0.059;0.059;0.012;0.012|.	B;B;B;B|.	0.19391|.	0.017;0.025;0.017;0.017|.	T|T	0.25152|0.25152	-1.0140|-1.0140	10|5	0.20519|.	T|.	0.43|.	-12.9122|-12.9122	6.6931|6.6931	0.23183|0.23183	0.2765:0.0:0.7235:0.0|0.2765:0.0:0.7235:0.0	.|.	807;807;705;944|.	B4DK65;E7EW59;B4DFD9;Q9Y467|.	.;.;.;SALL2_HUMAN|.	L|Y	944;807|803	ENSP00000333537:F944L;ENSP00000396773:F807L|.	ENSP00000333537:F944L|.	F|S	-|-	3|2	2|0	SALL2|SALL2	21060870|21060870	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.994000|0.994000	0.84299|0.84299	1.013000|1.013000	0.29937|0.29937	0.622000|0.622000	0.30249|0.30249	0.563000|0.563000	0.77884|0.77884	TTC|TCT		0.597	SALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401242.1	NM_005407	
ACIN1	22985	broad.mit.edu	37	14	23531439	23531439	+	Missense_Mutation	SNP	C	C	T	rs138390500	byFrequency	TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr14:23531439C>T	ENST00000262710.1	-	16	3538	c.3211G>A	c.(3211-3213)Ggg>Agg	p.G1071R	ACIN1_ENST00000557515.1_Missense_Mutation_p.G312R|ACIN1_ENST00000457657.1_Missense_Mutation_p.G1031R|ACIN1_ENST00000605057.1_Missense_Mutation_p.G1013R|ACIN1_ENST00000555053.1_Missense_Mutation_p.G1058R|ACIN1_ENST00000397341.3_Missense_Mutation_p.G313R|ACIN1_ENST00000338631.6_Missense_Mutation_p.G344R|ACIN1_ENST00000357481.2_Missense_Mutation_p.G313R	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1071					apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.G1071W(1)|p.G344W(1)		breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		CATTTGACCCCGTGCAGAGCT	0.552																																						uc001wit.4																			2	Substitution - Missense(2)	p.G1071W(2)|p.G344W(1)	lung(2)	breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37						c.(3211-3213)Ggg>Agg		Homo sapiens apoptotic chromatin condensation inducer 1 (ACIN1), transcript variant 1, mRNA.		C	ARG/GLY,ARG/GLY,ARG/GLY,ARG/GLY,ARG/GLY	2,4404	4.2+/-10.8	0,2,2201	114.0	114.0	114.0		3172,3091,1030,937,3211	5.2	1.0	14	dbSNP_134	114	0,8600		0,0,4300	yes	missense,missense,missense,missense,missense	ACIN1	NM_001164814.1,NM_001164815.1,NM_001164816.1,NM_001164817.1,NM_014977.3	125,125,125,125,125	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	1058/1329,1031/1302,344/615,313/584,1071/1342	23531439	2,13004	2203	4300	6503	SO:0001583	missense	22985				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding	g.chr14:23531439C>T	AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 152"""	604562	"""apoptotic chromatin condensation inducer in the nucleus"""	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.3211G>A	14.37:g.23531439C>T	ENSP00000262710:p.Gly1071Arg					ACIN1_uc001wio.4_Non-coding_Transcript|ACIN1_uc001wip.4_Missense_Mutation_p.G313R|ACIN1_uc001wiq.4_Missense_Mutation_p.G313R|ACIN1_uc001wir.4_Missense_Mutation_p.G344R|ACIN1_uc001wis.4_Missense_Mutation_p.G752R|ACIN1_uc010akg.3_Missense_Mutation_p.G1058R|ACIN1_uc010tnj.2_Missense_Mutation_p.G1031R	p.G1071R	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN		GBM - Glioblastoma multiforme(265;0.00816)	15	3539	-	all_cancers(95;1.36e-05)		1071					B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Missense_Mutation	SNP	ENST00000262710.1	37	c.3211G>A	CCDS9587.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.399910	0.83120	4.54E-4	0.0	ENSG00000100813	ENST00000557515;ENST00000338631;ENST00000357481;ENST00000262710;ENST00000457657;ENST00000397341;ENST00000555053	T;T;T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69;0.69;0.69	5.19	5.19	0.71726	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.000000	0.39687	N	0.001289	T	0.71392	0.3334	M	0.82517	2.595	0.80722	D	1	D;D;D;D;D	0.69078	0.997;0.995;0.989;0.996;0.997	D;D;P;P;P	0.69824	0.942;0.966;0.876;0.779;0.848	T	0.75169	-0.3412	10	0.59425	D	0.04	-18.731	17.8779	0.88830	0.0:1.0:0.0:0.0	.	1058;1071;1031;344;313	G3V3M7;Q9UKV3;E7EQT4;Q9UKV3-2;Q9UKV3-3	.;ACINU_HUMAN;.;.;.	R	312;344;313;1071;1031;313;1058	ENSP00000451138:G312R;ENSP00000345541:G344R;ENSP00000350073:G313R;ENSP00000262710:G1071R;ENSP00000405677:G1031R;ENSP00000380502:G313R;ENSP00000451328:G1058R	ENSP00000262710:G1071R	G	-	1	0	ACIN1	22601279	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.937000	0.56575	2.578000	0.87016	0.563000	0.77884	GGG		0.552	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	NM_014977	
RPAP1	26015	broad.mit.edu	37	15	41819389	41819389	+	Silent	SNP	C	C	T			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr15:41819389C>T	ENST00000304330.4	-	13	1838	c.1722G>A	c.(1720-1722)cgG>cgA	p.R574R	RPAP1_ENST00000561603.1_Silent_p.R574R|RPAP1_ENST00000568413.1_5'Flank	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	574						nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CCAGGGAATGCCGGGCCAGGC	0.612																																						uc001zod.3																			0				NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45						c.(1720-1722)cgG>cgA		Homo sapiens RNA polymerase II associated protein 1 (RPAP1), mRNA.							54.0	52.0	53.0					15																	41819389		2203	4300	6503	SO:0001819	synonymous_variant	26015					nucleus	DNA binding|DNA-directed RNA polymerase activity	g.chr15:41819389C>T	BC000246	CCDS10079.1	15q14	2004-03-16			ENSG00000103932	ENSG00000103932			24567	protein-coding gene	gene with protein product		611475				10718198	Standard	XM_005254297		Approved	DKFZP727M111, KIAA1403, MGC858, FLJ12732	uc001zod.3	Q9BWH6	OTTHUMG00000130342	ENST00000304330.4:c.1722G>A	15.37:g.41819389C>T							p.R574R	NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)	12	1846	-		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	574					Q9H9I2|Q9NSQ5|Q9P2E4|Q9UFS7	Silent	SNP	ENST00000304330.4	37	c.1722G>A	CCDS10079.1																																																																																				0.612	RPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252694.2	NM_015540	
SECISBP2L	9728	broad.mit.edu	37	15	49325161	49325161	+	Splice_Site	SNP	C	C	G			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr15:49325161C>G	ENST00000559471.1	-	4	928		c.e4+1		SECISBP2L_ENST00000261847.3_Splice_Site	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like								poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						CCTTGCCTTACCAGTTTGCTG	0.393																																						uc001zxe.2																			0				breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						c.e4+1		Homo sapiens SECIS binding protein 2-like (SECISBP2L), transcript variant 1, mRNA.							258.0	233.0	241.0					15																	49325161		2197	4295	6492	SO:0001630	splice_region_variant	9728							g.chr15:49325161C>G	BC033001	CCDS32234.1, CCDS53942.1	15q21.1	2014-02-12				ENSG00000138593			28997	protein-coding gene	gene with protein product		615756					Standard	NM_001193489		Approved	KIAA0256	uc001zxe.2	Q93073		ENST00000559471.1:c.664+1G>C	15.37:g.49325161C>G						SECISBP2L_uc001zxd.2_Splice_Site_p.D222_splice|SECISBP2L_uc010bep.2_Splice_Site|SECISBP2L_uc010beq.2_Intron	p.D222_splice	NM_001193489	NP_001180418	Q93073	SBP2L_HUMAN			4	928	-			222					Q8N767	Splice_Site	SNP	ENST00000559471.1	37	c.664_splice	CCDS53942.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.243832	0.79912	.	.	ENSG00000138593	ENST00000261847;ENST00000380927	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4188	0.94712	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SECISBP2L	47112453	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	6.658000	0.74407	2.582000	0.87167	0.591000	0.81541	.		0.393	SECISBP2L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417277.1	NM_014701	Intron
SECISBP2L	9728	broad.mit.edu	37	15	49325180	49325180	+	Missense_Mutation	SNP	C	C	G			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr15:49325180C>G	ENST00000559471.1	-	4	909	c.646G>C	c.(646-648)Gat>Cat	p.D216H	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.D216H	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	216							poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						TGTGAAGCATCTACCAGAAGC	0.398																																						uc001zxe.2																			0				breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						c.(646-648)Gat>Cat		Homo sapiens SECIS binding protein 2-like (SECISBP2L), transcript variant 1, mRNA.							269.0	243.0	251.0					15																	49325180		2197	4295	6492	SO:0001583	missense	9728							g.chr15:49325180C>G	BC033001	CCDS32234.1, CCDS53942.1	15q21.1	2014-02-12				ENSG00000138593			28997	protein-coding gene	gene with protein product		615756					Standard	NM_001193489		Approved	KIAA0256	uc001zxe.2	Q93073		ENST00000559471.1:c.646G>C	15.37:g.49325180C>G	ENSP00000453854:p.Asp216His					SECISBP2L_uc001zxd.2_Missense_Mutation_p.D216H|SECISBP2L_uc010bep.2_5'UTR|SECISBP2L_uc010beq.2_Intron	p.D216H	NM_001193489	NP_001180418	Q93073	SBP2L_HUMAN			3	910	-			216					Q8N767	Missense_Mutation	SNP	ENST00000559471.1	37	c.646G>C	CCDS53942.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.400677	0.83120	.	.	ENSG00000138593	ENST00000261847;ENST00000380927	D	0.89939	-2.59	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.91855	0.7422	L	0.34521	1.04	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.92081	0.5672	10	0.52906	T	0.07	.	19.4188	0.94712	0.0:1.0:0.0:0.0	.	216;216	Q93073;Q93073-2	SBP2L_HUMAN;.	H	216	ENSP00000261847:D216H	ENSP00000261847:D216H	D	-	1	0	SECISBP2L	47112472	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.658000	0.74407	2.582000	0.87167	0.591000	0.81541	GAT		0.398	SECISBP2L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417277.1	NM_014701	
FBXO22	26263	broad.mit.edu	37	15	76225151	76225151	+	Missense_Mutation	SNP	A	A	G	rs370353595		TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr15:76225151A>G	ENST00000308275.3	+	7	1025	c.920A>G	c.(919-921)cAg>cGg	p.Q307R	FBXO22_ENST00000540507.1_Missense_Mutation_p.Q203R	NM_147188.2	NP_671717.1	Q8NEZ5	FBX22_HUMAN	F-box protein 22	307					cellular protein modification process (GO:0006464)|cellular response to starvation (GO:0009267)|nucleocytoplasmic transport (GO:0006913)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein polyubiquitination (GO:0000209)|regulation of skeletal muscle fiber development (GO:0048742)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GCTGCGATGCAGCGCCTCAAA	0.527																																						uc002bbk.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(919-921)cAg>cGg		Homo sapiens F-box protein 22 (FBXO22), transcript variant 1, mRNA.							146.0	132.0	137.0					15																	76225151		2197	4294	6491	SO:0001583	missense	26263				ubiquitin-dependent protein catabolic process		ubiquitin-protein ligase activity	g.chr15:76225151A>G	AF174602	CCDS10287.1, CCDS45310.1	15q23	2008-10-03	2004-06-15		ENSG00000167196	ENSG00000167196		"""F-boxes /  ""other"""""	13593	protein-coding gene	gene with protein product	"""FIST domain containing 1"""	609096	"""F-box only protein 22"""			10531035, 10531037, 17855421	Standard	NM_147188		Approved	FBX22, FISTC1	uc002bbk.3	Q8NEZ5	OTTHUMG00000142841	ENST00000308275.3:c.920A>G	15.37:g.76225151A>G	ENSP00000307833:p.Gln307Arg					FBXO22_uc002bbl.3_Missense_Mutation_p.Q203R|FBXO22-AS1_uc002bbm.1_Non-coding_Transcript	p.Q307R	NM_147188	NP_671717	Q8NEZ5	FBX22_HUMAN			6	1025	+			307					Q0D2P8|Q6PIL5|Q8IXW3|Q9H824|Q9UKC0	Missense_Mutation	SNP	ENST00000308275.3	37	c.920A>G	CCDS10287.1	.	.	.	.	.	.	.	.	.	.	A	10.70	1.424930	0.25639	.	.	ENSG00000167196	ENST00000308275;ENST00000540507	.	.	.	5.52	4.39	0.52855	FIST C domain (1);	0.116770	0.64402	N	0.000011	T	0.41581	0.1165	N	0.25380	0.74	0.46499	D	0.999071	B	0.15141	0.012	B	0.16289	0.015	T	0.17531	-1.0366	9	0.19147	T	0.46	-29.0069	10.945	0.47296	0.9264:0.0:0.0736:0.0	.	307	Q8NEZ5	FBX22_HUMAN	R	307;203	.	ENSP00000307833:Q307R	Q	+	2	0	FBXO22	74012206	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	4.341000	0.59335	1.029000	0.39812	0.533000	0.62120	CAG		0.527	FBXO22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286477.2	NM_147188	
TSC2	7249	broad.mit.edu	37	16	2138318	2138318	+	Missense_Mutation	SNP	C	C	T	rs137854397		TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr16:2138318C>T	ENST00000219476.3	+	41	5881	c.5251C>T	c.(5251-5253)Cgc>Tgc	p.R1751C	TSC2_ENST00000401874.2_Missense_Mutation_p.R1684C|TSC2_ENST00000350773.4_Missense_Mutation_p.R1728C|TSC2_ENST00000568454.1_Missense_Mutation_p.R1695C|TSC2_ENST00000382538.6_Missense_Mutation_p.R1636C|MIR1225_ENST00000408729.1_RNA|TSC2_ENST00000439673.2_Missense_Mutation_p.R1648C|TSC2_ENST00000353929.4_Missense_Mutation_p.R1708C	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1751	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.		Missing (in TSC2). {ECO:0000269|PubMed:10607950, ECO:0000269|PubMed:15024740}.		acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CAAGCGGCTCCGCCAGCGGGT	0.662			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													uc002con.3			yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	"""D, Mis, N, F, S"""	tuberous sclerosis 2 gene			"""E, O"""		"""hamartoma, renal cell"""			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56						c.(5251-5253)Cgc>Tgc		Homo sapiens tuberous sclerosis 2 (TSC2), transcript variant 1, mRNA.							44.0	55.0	51.0					16																	2138318		2196	4295	6491	SO:0001583	missense	7249	Tuberous Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity	g.chr16:2138318C>T	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.5251C>T	16.37:g.2138318C>T	ENSP00000219476:p.Arg1751Cys					TCRBV20S1_uc021tak.1_Intron|TSC2_uc010bsd.3_Missense_Mutation_p.R1728C|TSC2_uc002coo.3_Missense_Mutation_p.R1684C|TSC2_uc010uvv.2_Missense_Mutation_p.R1648C|TSC2_uc010uvw.2_Missense_Mutation_p.R1636C|TSC2_uc002cop.3_Missense_Mutation_p.R1507C|TSC2_uc002coq.3_Missense_Mutation_p.R526C	p.R1751C	NM_000548	NP_000539	P49815	TSC2_HUMAN			40	5357	+		Hepatocellular(780;0.0202)	1751		Missing (in TSC2).	Rap-GAP.		A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	ENST00000219476.3	37	c.5251C>T	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	C	15.73	2.919461	0.52653	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	D;D;D;D;D	0.94092	-3.35;-3.35;-3.35;-3.35;-3.35	4.21	4.21	0.49690	Rap/ran-GAP (1);	0.000000	0.85682	D	0.000000	D	0.96589	0.8887	M	0.87547	2.89	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.87578	0.996;0.997;0.998;0.991;0.998;0.998;0.994	D	0.96887	0.9650	10	0.87932	D	0	-24.1537	11.6787	0.51444	0.3107:0.6893:0.0:0.0	.	1636;1648;1728;526;1707;1684;1751	B4DIL8;P49815-6;P49815-4;B3KSR9;P49815-3;P49815-5;P49815	.;.;.;.;.;.;TSC2_HUMAN	C	1751;1685;1708;1648;1636;1728	ENSP00000219476:R1751C;ENSP00000248099:R1708C;ENSP00000399232:R1648C;ENSP00000371978:R1636C;ENSP00000344383:R1728C	ENSP00000219476:R1751C	R	+	1	0	TSC2	2078319	0.817000	0.29147	0.959000	0.39883	0.618000	0.37518	1.484000	0.35508	2.065000	0.61736	0.313000	0.20887	CGC		0.662	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548	
RRAD	6236	broad.mit.edu	37	16	66957423	66957424	+	Missense_Mutation	DNP	CA	CA	AC			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr16:66957423_66957424CA>AC	ENST00000299759.6	-	4	894_895	c.644_645TG>GT	c.(643-645)gTG>gGT	p.V215G	RRAD_ENST00000420652.1_Missense_Mutation_p.V215G			P55042	RAD_HUMAN	Ras-related associated with diabetes	215					small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)		ACTCACCATCCACCGAGACCTC	0.634																																						uc002eqn.2																			0				endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	17						c.(643-645)gtg>gGT		Homo sapiens Ras-related associated with diabetes (RRAD), transcript variant 1, mRNA.																																				SO:0001583	missense	6236				small GTPase mediated signal transduction	plasma membrane	calmodulin binding|GTP binding|GTPase activity	g.chr16:66957423_66957424CA>AC	L24564	CCDS10824.1	16q22	2014-05-09			ENSG00000166592	ENSG00000166592			10446	protein-coding gene	gene with protein product		179503				7859947	Standard	NM_004165		Approved	REM3, RAD	uc002eqo.2	P55042	OTTHUMG00000137511	ENST00000299759.6:c.644_645delinsAC	16.37:g.66957423_66957424delinsAC	ENSP00000299759:p.Val215Gly					RRAD_uc002eqo.2_Missense_Mutation_p.V215G	p.V215G	NM_001128850	NP_004156	P55042	RAD_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)	3	796_797	-		Ovarian(137;0.192)	215					Q96F39	Missense_Mutation	DNP	ENST00000299759.6	37	c.644_645TG>GT	CCDS10824.1																																																																																				0.634	RRAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268830.1	NM_004165	
ACADVL	37	broad.mit.edu	37	17	7125285	7125285	+	Missense_Mutation	SNP	G	G	A	rs140629318		TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr17:7125285G>A	ENST00000356839.5	+	8	816	c.637G>A	c.(637-639)Gct>Act	p.A213T	MIR324_ENST00000362183.1_RNA|ACADVL_ENST00000543245.2_Missense_Mutation_p.A236T|ACADVL_ENST00000581562.1_3'UTR|ACADVL_ENST00000350303.5_Missense_Mutation_p.A191T|DLG4_ENST00000399510.2_5'Flank	NM_000018.3|NM_001270448.1	NP_000009.1|NP_001257377.1	P49748	ACADV_HUMAN	acyl-CoA dehydrogenase, very long chain	213	Catalytic.		A -> P (in ACADVLD; dbSNP:rs140629318).		activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular lipid metabolic process (GO:0044255)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|energy derivation by oxidation of organic compounds (GO:0015980)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of fatty acid oxidation (GO:0046322)|regulation of cholesterol metabolic process (GO:0090181)|small molecule metabolic process (GO:0044281)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(1)|ovary(4)|skin(1)	21						GACTGTGGCCGCTTTCTGTCT	0.572																																						uc002gev.3																			0				breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(1)|ovary(4)|skin(1)	21	GRCh37	CM024582|CM990086	ACADVL	M	rs140629318	c.(637-639)Gct>Act		Homo sapiens acyl-CoA dehydrogenase, very long chain (ACADVL), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							52.0	57.0	55.0					17																	7125285		2203	4300	6503	SO:0001583	missense	37				energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial inner membrane|mitochondrial nucleoid	long-chain-acyl-CoA dehydrogenase activity	g.chr17:7125285G>A	BC012912	CCDS11090.1, CCDS42249.1, CCDS58509.1	17p13.1	2010-04-30	2010-04-30		ENSG00000072778	ENSG00000072778			92	protein-coding gene	gene with protein product		609575	"""acyl-Coenzyme A dehydrogenase, very long chain"""			8921384	Standard	NM_000018		Approved	VLCAD, LCACD, ACAD6	uc002gev.4	P49748	OTTHUMG00000102157	ENST00000356839.5:c.637G>A	17.37:g.7125285G>A	ENSP00000349297:p.Ala213Thr					DLG4_uc002get.4_5'Flank|DLG4_uc010vto.2_5'Flank|ACADVL_uc010vtp.2_Missense_Mutation_p.A223T|ACADVL_uc010vtq.1_Missense_Mutation_p.A259T|ACADVL_uc002gew.3_Missense_Mutation_p.A191T|ACADVL_uc002gex.3_Missense_Mutation_p.A137T	p.A213T	NM_000018	NP_000009	P49748	ACADV_HUMAN			7	788	+			213		A -> P (in ACADVLD).	Catalytic.		B4DEB6|F5H2A9|O76056|Q8WUL0	Missense_Mutation	SNP	ENST00000356839.5	37	c.637G>A	CCDS11090.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.842735	0.91197	.	.	ENSG00000072778	ENST00000543245;ENST00000356839;ENST00000350303;ENST00000322910;ENST00000542255	D;D	0.96396	-4.0;-4.0	5.73	5.73	0.89815	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA oxidase/dehydrogenase, central domain (2);	0.000000	0.85682	D	0.000000	D	0.98391	0.9465	M	0.88377	2.95	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.997;0.997;0.999	D	0.99222	1.0879	10	0.87932	D	0	.	17.3864	0.87417	0.0:0.0:1.0:0.0	.	259;236;191;213	G3V1M7;F5H2A9;P49748-2;P49748	.;.;.;ACADV_HUMAN	T	236;259;191;213;259	ENSP00000438689:A236T;ENSP00000344152:A191T	ENSP00000325395:A213T	A	+	1	0	ACADVL	7066009	1.000000	0.71417	0.948000	0.38648	0.394000	0.30568	6.569000	0.73992	2.709000	0.92574	0.563000	0.77884	GCT		0.572	ACADVL-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220001.5	NM_000018	
TP53	7157	broad.mit.edu	37	17	7577149	7577149	+	Frame_Shift_Del	DEL	A	A	-			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr17:7577149delA	ENST00000269305.4	-	8	978	c.789delT	c.(787-789)aatfs	p.N263fs	TP53_ENST00000359597.4_Frame_Shift_Del_p.N263fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.N263fs|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Frame_Shift_Del_p.N263fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.N263fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	263	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		GN -> PD (in a sporadic cancer; somatic mutation).|N -> D (in sporadic cancers; somatic mutation).|N -> H (in sporadic cancers; somatic mutation).|N -> I (in sporadic cancers; somatic mutation).|N -> K (in a sporadic cancer; somatic mutation).|N -> S (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|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)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G262_S269delGNLLGRNS(2)|p.N263fs*5(1)|p.E258fs*71(1)|p.S261_L264>R(1)|p.N263K(1)|p.G262fs*2(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTCCCAGTAGATTACCACTAC	0.517		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		20	Whole gene deletion(8)|Deletion - In frame(4)|Unknown(3)|Deletion - Frameshift(3)|Complex - deletion inframe(1)|Substitution - Missense(1)	p.G262V(15)|p.0?(8)|p.G262fs*83(5)|p.G262_F270delGNLLGRNSF(4)|p.G262D(4)|p.G262_S269delGNLLGRNS(4)|p.?(3)|p.N263fs*82(3)|p.N263D(2)|p.N263K(2)|p.N263H(2)|p.N263I(2)|p.G262del(2)|p.G262S(2)|p.S261_L264>R(2)|p.N263fs*5(2)|p.G262fs*2(2)|p.G262H(1)|p.G262G(1)|p.E258fs*71(1)|p.S261_G262insX(1)|p.N263fs*84(1)	bone(4)|haematopoietic_and_lymphoid_tissue(3)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(2)|lung(2)|ovary(2)|eye(1)|urinary_tract(1)|stomach(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(787-789)aatfs	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							42.0	38.0	40.0					17																	7577149		2203	4299	6502	SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577149delA	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.789delT	17.37:g.7577149delA	ENSP00000269305:p.Asn263fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.3_Frame_Shift_Del_p.N263fs|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Frame_Shift_Del_p.N131fs|TP53_uc010cnf.1_Frame_Shift_Del_p.N131fs|TP53_uc002gii.1_Frame_Shift_Del_p.N131fs|TP53_uc010cni.1_Frame_Shift_Del_p.N263fs|TP53_uc010cnh.1_Frame_Shift_Del_p.N263fs|TP53_uc002gij.2_Frame_Shift_Del_p.N263fs|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	p.N263fs	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	983	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	263		GN -> PD (in a sporadic cancer; somatic mutation).|N -> D (in sporadic cancers; somatic mutation).|N -> H (in sporadic cancers; somatic mutation).|N -> I (in sporadic cancers; somatic mutation).|N -> K (in a sporadic cancer; somatic mutation).|N -> S (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.789delT	CCDS11118.1																																																																																				0.517	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
SLC13A2	9058	broad.mit.edu	37	17	26823547	26823547	+	Missense_Mutation	SNP	T	T	C			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr17:26823547T>C	ENST00000314669.5	+	11	1970	c.1550T>C	c.(1549-1551)gTg>gCg	p.V517A	SLC13A2_ENST00000444914.3_Missense_Mutation_p.V566A|SLC13A2_ENST00000537681.1_Missense_Mutation_p.V446A|SLC13A2_ENST00000545060.1_Missense_Mutation_p.V474A	NM_003984.3	NP_003975.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	517					dicarboxylic acid transport (GO:0006835)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	low-affinity sodium:dicarboxylate symporter activity (GO:0015361)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	ATGTTGCCTGTGGCCACCCCG	0.617																																						uc010wan.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1696-1698)gTg>gCg		Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 (SLC13A2), transcript variant 1, mRNA.	Succinic acid(DB00139)						139.0	119.0	125.0					17																	26823547		2203	4300	6503	SO:0001583	missense	9058					integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity	g.chr17:26823547T>C	U26209	CCDS11231.1, CCDS54098.1	17p13.2	2013-05-22			ENSG00000007216	ENSG00000007216		"""Solute carriers"""	10917	protein-coding gene	gene with protein product		604148				8967342, 10343111	Standard	NM_001145975		Approved	NaDC-1	uc010wan.2	Q13183	OTTHUMG00000132523	ENST00000314669.5:c.1550T>C	17.37:g.26823547T>C	ENSP00000316202:p.Val517Ala					SLC13A2_uc010wam.2_Missense_Mutation_p.V473A|SLC13A2_uc002hbh.3_Missense_Mutation_p.V517A|SLC13A2_uc010wao.2_Missense_Mutation_p.V474A|SLC13A2_uc002hbi.3_Missense_Mutation_p.V446A	p.V566A	NM_001145975	NP_001139447	Q13183	S13A2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	10	1764	+	all_lung(13;0.000871)|Lung NSC(42;0.0027)		517					B2RBI9|B4DPL1|E7ETH5|Q4VAR7	Missense_Mutation	SNP	ENST00000314669.5	37	c.1697T>C	CCDS11231.1	.	.	.	.	.	.	.	.	.	.	T	28.0	4.883298	0.91740	.	.	ENSG00000007216	ENST00000314669;ENST00000444914;ENST00000545060;ENST00000537681	T;T;T;T	0.03386	3.95;3.95;3.95;3.95	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.19805	0.0476	M	0.81497	2.545	0.80722	D	1	D;D;D;D	0.89917	1.0;0.995;1.0;1.0	D;D;D;D	0.97110	0.998;0.951;1.0;0.999	T	0.00333	-1.1810	10	0.56958	D	0.05	-20.0741	15.6763	0.77326	0.0:0.0:0.0:1.0	.	474;566;446;517	F5GWV6;E7ETH5;G3V1L2;Q13183	.;.;.;S13A2_HUMAN	A	517;566;474;446	ENSP00000316202:V517A;ENSP00000392411:V566A;ENSP00000441935:V474A;ENSP00000440802:V446A	ENSP00000316202:V517A	V	+	2	0	SLC13A2	23847674	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.516000	0.81772	2.107000	0.64212	0.533000	0.62120	GTG		0.617	SLC13A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255722.1	NM_003984	
MYO18A	399687	broad.mit.edu	37	17	27424842	27424842	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr17:27424842C>T	ENST00000527372.1	-	26	4246	c.4066G>A	c.(4066-4068)Gcg>Acg	p.A1356T	MYO18A_ENST00000533112.1_Missense_Mutation_p.A1356T|MYO18A_ENST00000531253.1_Missense_Mutation_p.A1356T|MYO18A_ENST00000354329.4_Missense_Mutation_p.A1356T	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1356					actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			TTGATCTCCGCTGCCCGGATG	0.602																																					Esophageal Squamous(182;472 2015 7001 15270 22562)	uc002hdt.1																			0				NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36						c.(4066-4068)Gcg>Acg		Homo sapiens myosin XVIIIA (MYO18A), transcript variant 1, mRNA.							122.0	127.0	125.0					17																	27424842		2101	4229	6330	SO:0001583	missense	399687				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity	g.chr17:27424842C>T	D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"""Myosins / Myosin superfamily : Class XVIII"""	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.4066G>A	17.37:g.27424842C>T	ENSP00000437073:p.Ala1356Thr					MYO18A_uc010wbc.1_Missense_Mutation_p.A898T|MYO18A_uc002hds.2_Missense_Mutation_p.A898T|MYO18A_uc010csa.1_Missense_Mutation_p.A1356T|MYO18A_uc002hdu.1_Missense_Mutation_p.A1356T|MYO18A_uc010wbd.1_Missense_Mutation_p.A1025T	p.A1356T	NM_078471	NP_510880	Q92614	MY18A_HUMAN	Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		25	4224	-			1356					Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	ENST00000527372.1	37	c.4066G>A	CCDS45642.1	.	.	.	.	.	.	.	.	.	.	C	11.66	1.703477	0.30232	.	.	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000529799;ENST00000540575;ENST00000458428	T;D;T;T	0.89123	-1.12;-2.47;-1.12;-1.12	5.66	3.5	0.40072	Myosin tail (1);	0.163466	0.56097	D	0.000034	T	0.81531	0.4842	L	0.31065	0.9	0.36501	D	0.869039	B;B;B;B;B	0.12013	0.001;0.001;0.003;0.003;0.005	B;B;B;B;B	0.13407	0.005;0.003;0.004;0.004;0.009	T	0.79332	-0.1847	10	0.34782	T	0.22	.	11.4651	0.50235	0.0:0.8091:0.0:0.1909	.	1025;968;1356;1356;1356	Q92614-2;F8W6Y3;Q92614-3;Q92614-4;Q92614	.;.;.;.;MY18A_HUMAN	T	1356;1356;1356;1356;1356;252;252;968	ENSP00000346291:A1356T;ENSP00000435932:A1356T;ENSP00000434228:A1356T;ENSP00000437073:A1356T	ENSP00000346291:A1356T	A	-	1	0	MYO18A	24448968	0.998000	0.40836	0.989000	0.46669	0.828000	0.46876	3.855000	0.55957	1.400000	0.46741	-0.136000	0.14681	GCG		0.602	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	NM_078471	
SUZ12	23512	broad.mit.edu	37	17	30320320	30320320	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr17:30320320G>A	ENST00000322652.5	+	11	1490	c.1261G>A	c.(1261-1263)Gaa>Aaa	p.E421K	SUZ12_ENST00000580398.1_Missense_Mutation_p.E398K	NM_015355.2	NP_056170.2	Q15022	SUZ12_HUMAN	SUZ12 polycomb repressive complex 2 subunit	421					histone ubiquitination (GO:0016574)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|metal ion binding (GO:0046872)|methylated histone binding (GO:0035064)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)		SSH2/SUZ12(2)|JAZF1/SUZ12(133)	breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				TACTCCAAATGAAAACCGACA	0.264			T	JAZF1	endometrial stromal tumours																																	uc002hgs.2				Dom	yes		17	17q11.2	23512	T	suppressor of zeste 12 homolog (Drosophila)			M	JAZF1		endometrial stromal tumours	SSH2/SUZ12(2)|JAZF1/SUZ12(133)	0				breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21						c.(1261-1263)Gaa>Aaa		Homo sapiens suppressor of zeste 12 homolog (Drosophila) (SUZ12), mRNA.							36.0	37.0	37.0					17																	30320320		2194	4272	6466	SO:0001583	missense	23512				negative regulation of cell differentiation|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|methylated histone residue binding|zinc ion binding	g.chr17:30320320G>A	D63881	CCDS11270.1	17q21	2013-06-05	2013-06-05		ENSG00000178691	ENSG00000178691		"""Zinc fingers, C2H2-type"""	17101	protein-coding gene	gene with protein product		606245	"""suppressor of zeste 12 homolog (Drosophila)"""			8590280, 11371647, 18784248	Standard	NM_015355		Approved	JJAZ1, KIAA0160, CHET9	uc002hgs.2	Q15022	OTTHUMG00000132813	ENST00000322652.5:c.1261G>A	17.37:g.30320320G>A	ENSP00000316578:p.Glu421Lys					SUZ12_uc002hgt.2_Missense_Mutation_p.E398K	p.E421K	NM_015355	NP_056170	Q15022	SUZ12_HUMAN			10	1483	+		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)	421					Q96BD9	Missense_Mutation	SNP	ENST00000322652.5	37	c.1261G>A	CCDS11270.1	.	.	.	.	.	.	.	.	.	.	g	17.43	3.386658	0.61956	.	.	ENSG00000178691	ENST00000322652	T	0.46451	0.87	5.18	5.18	0.71444	.	0.050422	0.85682	D	0.000000	T	0.49287	0.1548	N	0.20685	0.6	0.58432	D	0.999999	B;D	0.63880	0.15;0.993	B;D	0.70935	0.027;0.971	T	0.38520	-0.9657	10	0.21540	T	0.41	-5.5403	19.097	0.93257	0.0:0.0:1.0:0.0	.	421;421	A8K1U9;Q15022	.;SUZ12_HUMAN	K	421	ENSP00000316578:E421K	ENSP00000316578:E421K	E	+	1	0	SUZ12	27344433	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.055000	0.93873	2.592000	0.87571	0.644000	0.83932	GAA		0.264	SUZ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256260.2	NM_015355	
GNGT2	2793	broad.mit.edu	37	17	47284162	47284162	+	Missense_Mutation	SNP	T	T	C			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr17:47284162T>C	ENST00000511277.1	-	4	346	c.167A>G	c.(166-168)gAc>gGc	p.D56G	GNGT2_ENST00000300406.2_Missense_Mutation_p.D56G|GNGT2_ENST00000515635.1_Missense_Mutation_p.D56G|GNGT2_ENST00000503070.1_Missense_Mutation_p.D56G|GNGT2_ENST00000507680.1_Missense_Mutation_p.D56G|GNGT2_ENST00000511673.1_Missense_Mutation_p.D56G	NM_001198756.1	NP_001185685.1	O14610	GBGT2_HUMAN	guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 2	56					G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|phototransduction (GO:0007602)|synaptic transmission (GO:0007268)	heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|signal transducer activity (GO:0004871)			endometrium(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4			Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)			GGGATTCTTGTCCTCAGGGAT	0.507																																						uc002ioo.2																			0				endometrium(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4						c.(166-168)gAc>gGc		Homo sapiens guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 2 (GNGT2), transcript variant 1, mRNA.							172.0	148.0	156.0					17																	47284162		2203	4300	6503	SO:0001583	missense	2793				G-protein coupled receptor protein signaling pathway|phototransduction|synaptic transmission	extracellular region|heterotrimeric G-protein complex	GTPase activity|signal transducer activity	g.chr17:47284162T>C		CCDS11545.1	17q21	2003-12-17				ENSG00000167083			4412	protein-coding gene	gene with protein product		139391				9286705	Standard	NM_031498		Approved	GNG9	uc021tzq.1	O14610		ENST00000511277.1:c.167A>G	17.37:g.47284162T>C	ENSP00000426022:p.Asp56Gly					GNGT2_uc021tzo.1_Missense_Mutation_p.D56G|GNGT2_uc021tzp.1_Missense_Mutation_p.D56G|GNGT2_uc021tzq.1_Missense_Mutation_p.D56G	p.D56G	NM_031498	NP_113686	O14610	GBGT2_HUMAN	Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)		3	474	-			56					B2R746|D3DTW5	Missense_Mutation	SNP	ENST00000511277.1	37	c.167A>G	CCDS11545.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.161281	0.78226	.	.	ENSG00000167083	ENST00000503070;ENST00000511277;ENST00000300406;ENST00000515635;ENST00000507680;ENST00000511673	T;T;T;T;T;T	0.19105	2.17;2.17;2.17;2.17;2.17;2.17	4.82	4.82	0.62117	G-protein gamma domain (5);	0.055985	0.64402	D	0.000002	T	0.43567	0.1253	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	T	0.28490	-1.0042	9	0.38643	T	0.18	-20.5988	13.4962	0.61428	0.0:0.0:0.0:1.0	.	56	O14610	GBGT2_HUMAN	G	56	ENSP00000420946:D56G;ENSP00000426022:D56G;ENSP00000300406:D56G;ENSP00000423924:D56G;ENSP00000421710:D56G;ENSP00000422879:D56G	ENSP00000300406:D56G	D	-	2	0	GNGT2	44639161	1.000000	0.71417	1.000000	0.80357	0.705000	0.40729	7.482000	0.81143	2.035000	0.60131	0.459000	0.35465	GAC		0.507	GNGT2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364482.1	NM_031498	
WIPI1	55062	broad.mit.edu	37	17	66417949	66417949	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr17:66417949G>A	ENST00000262139.5	-	13	1305	c.1306C>T	c.(1306-1308)Cgt>Tgt	p.R436C	RP11-120M18.2_ENST00000592030.1_RNA|MIR635_ENST00000384830.1_RNA|WIPI1_ENST00000589459.1_5'UTR|ARSG_ENST00000448504.2_3'UTR|WIPI1_ENST00000546360.1_Missense_Mutation_p.R354C	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting 1	436					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|autophagy (GO:0006914)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|vesicle targeting, trans-Golgi to endosome (GO:0048203)	autophagic vacuole membrane (GO:0000421)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|pre-autophagosomal structure (GO:0000407)|pre-autophagosomal structure membrane (GO:0034045)|trans-Golgi network (GO:0005802)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						TGATTTCCACGGCACAAGATT	0.468																																						uc010dey.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						c.(1306-1308)Cgt>Tgt		Homo sapiens WD repeat domain, phosphoinositide interacting 1 (WIPI1), mRNA.							203.0	170.0	182.0					17																	66417949		2203	4300	6503	SO:0001583	missense	55062				macroautophagy|vesicle targeting, trans-Golgi to endosome	autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network	androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding	g.chr17:66417949G>A		CCDS11677.1	17q24.2	2014-02-12				ENSG00000070540		"""WD repeat domain containing"""	25471	protein-coding gene	gene with protein product		609224				15020712, 15602573	Standard	NM_017983		Approved	FLJ10055, WIPI49, Atg18, ATG18A	uc010dey.3	Q5MNZ9		ENST00000262139.5:c.1306C>T	17.37:g.66417949G>A	ENSP00000262139:p.Arg436Cys					WIPI1_uc010wqo.2_Missense_Mutation_p.R354C	p.R436C	NM_017983	NP_060453	Q5MNZ9	WIPI1_HUMAN			12	1397	-			436					Q8IXM5|Q9NWF8	Missense_Mutation	SNP	ENST00000262139.5	37	c.1306C>T	CCDS11677.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.601690	0.87055	.	.	ENSG00000070540	ENST00000262139;ENST00000546360	T;T	0.57595	0.8;0.39	6.06	6.06	0.98353	.	0.185215	0.44688	D	0.000421	T	0.61426	0.2346	L	0.41236	1.265	0.54753	D	0.999984	D	0.76494	0.999	P	0.56088	0.791	T	0.62086	-0.6928	10	0.87932	D	0	-13.428	18.8014	0.92018	0.0:0.0:1.0:0.0	.	436	Q5MNZ9	WIPI1_HUMAN	C	436;354	ENSP00000262139:R436C;ENSP00000437345:R354C	ENSP00000262139:R436C	R	-	1	0	WIPI1	63929544	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.255000	0.72466	2.882000	0.98803	0.655000	0.94253	CGT		0.468	WIPI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448739.1	NM_017983	
CLUL1	27098	broad.mit.edu	37	18	633305	633305	+	Missense_Mutation	SNP	C	C	A			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr18:633305C>A	ENST00000400606.2	+	6	1009	c.864C>A	c.(862-864)gaC>gaA	p.D288E	CLUL1_ENST00000338387.7_Missense_Mutation_p.D288E|CLUL1_ENST00000581619.1_Missense_Mutation_p.D313E|CLUL1_ENST00000579494.1_Missense_Mutation_p.D288E|CLUL1_ENST00000540035.1_Missense_Mutation_p.D340E	NM_014410.4	NP_055225.1	Q15846	CLUL1_HUMAN	clusterin-like 1 (retinal)	288					cell death (GO:0008219)	extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1)	24						TAGCTCCTGACCACGGAGGCC	0.428																																						uc010wys.2																			0				NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1)	24						c.(1018-1020)gaC>gaA		Homo sapiens clusterin-like 1 (retinal) (CLUL1), transcript variant 2, mRNA.							95.0	93.0	93.0					18																	633305		1876	4104	5980	SO:0001583	missense	27098				cell death	extracellular region		g.chr18:633305C>A	D63813	CCDS42405.1, CCDS74187.1	18p11.32	2008-07-28				ENSG00000079101			2096	protein-coding gene	gene with protein product						10675623, 14507903	Standard	NM_199167		Approved		uc002kkq.3	Q15846		ENST00000400606.2:c.864C>A	18.37:g.633305C>A	ENSP00000383449:p.Asp288Glu					CLUL1_uc002kkp.3_Missense_Mutation_p.D288E|CLUL1_uc002kkq.3_Missense_Mutation_p.D288E	p.D340E	NM_199167	NP_954636	Q15846	CLUL1_HUMAN			7	1254	+			288					A0FDN7	Missense_Mutation	SNP	ENST00000400606.2	37	c.1020C>A	CCDS42405.1	.	.	.	.	.	.	.	.	.	.	C	11.16	1.557640	0.27827	.	.	ENSG00000079101	ENST00000400606;ENST00000540035;ENST00000338387	T;T;T	0.20069	2.1;2.1;2.1	5.22	2.39	0.29439	Clusterin, C-terminal (1);	1.193580	0.05769	N	0.606432	T	0.21062	0.0507	L	0.50333	1.59	0.09310	N	1	P;P	0.43231	0.763;0.801	B;B	0.43990	0.311;0.438	T	0.15752	-1.0426	10	0.08599	T	0.76	1.0202	5.479	0.16713	0.147:0.636:0.1415:0.0756	.	340;288	F5GWQ8;Q15846	.;CLUL1_HUMAN	E	288;340;288	ENSP00000383449:D288E;ENSP00000441726:D340E;ENSP00000341128:D288E	ENSP00000341128:D288E	D	+	3	2	CLUL1	623305	0.002000	0.14202	0.002000	0.10522	0.068000	0.16541	0.243000	0.18106	0.189000	0.20188	-0.165000	0.13383	GAC		0.428	CLUL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441183.1		
TCEB3C	162699	broad.mit.edu	37	18	44554624	44554624	+	Silent	SNP	C	C	T			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr18:44554624C>T	ENST00000330682.2	-	1	1825	c.1590G>A	c.(1588-1590)ccG>ccA	p.P530P	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	530					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						TGGCCATCAGCGGGGCCACTT	0.632																																						uc010xdb.2																			0				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						c.(1588-1590)ccG>ccA		Homo sapiens transcription elongation factor B polypeptide 3C (elongin A3) (TCEB3C), mRNA.							5.0	3.0	4.0					18																	44554624		774	1406	2180	SO:0001819	synonymous_variant	162699				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding	g.chr18:44554624C>T	AB076840	CCDS11931.1	18q21.1	2008-08-13			ENSG00000183791	ENSG00000183791			24617	protein-coding gene	gene with protein product	"""elongin A3"""					11932239, 11994304	Standard	NM_145653		Approved	HsT829, TCEB3L2	uc010xdb.2	Q8NG57	OTTHUMG00000132651	ENST00000330682.2:c.1590G>A	18.37:g.44554624C>T						KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	p.P530P	NM_145653	NP_663628	Q8NG57	ELOA3_HUMAN			0	1826	-			530						Silent	SNP	ENST00000330682.2	37	c.1590G>A	CCDS11931.1																																																																																				0.632	TCEB3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255902.1	NM_145653	
SLC39A3	29985	broad.mit.edu	37	19	2733097	2733097	+	Silent	SNP	G	G	A			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr19:2733097G>A	ENST00000269740.4	-	3	926	c.597C>T	c.(595-597)agC>agT	p.S199S	AC006538.4_ENST00000586572.1_Intron|SLC39A3_ENST00000545664.1_Silent_p.S199S	NM_144564.4	NP_653165.2	Q9BRY0	S39A3_HUMAN	solute carrier family 39 (zinc transporter), member 3	199					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10		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)		CCACGAACAGGCTCACCACTT	0.716																																						uc010xgy.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10						c.(595-597)agC>agT		Homo sapiens solute carrier family 39 (zinc transporter), member 3 (SLC39A3), transcript variant 1, mRNA.							35.0	38.0	37.0					19																	2733097		2145	4184	6329	SO:0001819	synonymous_variant	29985					integral to membrane|plasma membrane	zinc ion transmembrane transporter activity	g.chr19:2733097G>A	AF052125	CCDS12093.1, CCDS45909.1	19p13.3	2013-05-22			ENSG00000141873	ENSG00000141873		"""Solute carriers"""	17128	protein-coding gene	gene with protein product		612168				10681536	Standard	NM_144564		Approved	ZIP3	uc002lwg.3	Q9BRY0		ENST00000269740.4:c.597C>T	19.37:g.2733097G>A						SLC39A3_uc002lwg.3_Silent_p.S199S	p.S199S	NM_144564	NP_653165	Q9BRY0	S39A3_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)	2	851	-		Hepatocellular(1079;0.137)	199					B3KMJ3|Q8WUG1	Silent	SNP	ENST00000269740.4	37	c.597C>T	CCDS12093.1																																																																																				0.716	SLC39A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451354.2		
OR2Z1	284383	broad.mit.edu	37	19	8841547	8841547	+	Missense_Mutation	SNP	T	T	C			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr19:8841547T>C	ENST00000324060.2	+	1	232	c.157T>C	c.(157-159)Tcc>Ccc	p.S53P		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	53						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CCGTGTGGACTCCCGGCTCCA	0.542																																						uc010xkg.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(157-159)Tcc>Ccc		Homo sapiens olfactory receptor, family 2, subfamily Z, member 1 (OR2Z1), mRNA.							164.0	144.0	151.0					19																	8841547		2203	4300	6503	SO:0001583	missense	284383				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:8841547T>C	AC008753	CCDS32895.1	19p13.2	2013-09-20	2002-11-13		ENSG00000181733	ENSG00000181733		"""GPCR / Class A : Olfactory receptors"""	15391	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily Z, member 2"""	OR2Z2			Standard	NM_001004699		Approved		uc010xkg.2	Q8NG97	OTTHUMG00000182195	ENST00000324060.2:c.157T>C	19.37:g.8841547T>C	ENSP00000316284:p.Ser53Pro						p.S53P	NM_001004699	NP_001004699	Q8NG97	OR2Z1_HUMAN			0	157	+			53					B9EH50|Q6IFK0|Q96R25	Missense_Mutation	SNP	ENST00000324060.2	37	c.157T>C	CCDS32895.1	.	.	.	.	.	.	.	.	.	.	T	0.123	-1.122744	0.01785	.	.	ENSG00000181733	ENST00000324060	T	0.00495	6.99	4.23	-1.88	0.07713	GPCR, rhodopsin-like superfamily (1);	0.935126	0.08980	N	0.865891	T	0.00271	0.0008	N	0.20574	0.59	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.31641	-0.9936	10	0.09338	T	0.73	.	3.8486	0.08945	0.3034:0.3776:0.0:0.319	.	53	Q8NG97	OR2Z1_HUMAN	P	53	ENSP00000316284:S53P	ENSP00000316284:S53P	S	+	1	0	OR2Z1	8702547	0.000000	0.05858	0.063000	0.19743	0.065000	0.16274	-0.186000	0.09670	-0.420000	0.07427	0.444000	0.29173	TCC		0.542	OR2Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459954.1		
ZNF844	284391	broad.mit.edu	37	19	12187394	12187394	+	Missense_Mutation	SNP	T	T	C	rs538666859		TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr19:12187394T>C	ENST00000439326.3	+	4	1634	c.1459T>C	c.(1459-1461)Ttt>Ctt	p.F487L	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	487					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.F487L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						GCCTTCATTTTTTCCACTTCC	0.448													.|||	1	0.000199681	0.0	0.0	5008	,	,		23892	0.0		0.001	False		,,,				2504	0.0					uc002mtb.2																			1	Substitution - Missense(1)	p.F487L(2)	prostate(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						c.(1459-1461)Ttt>Ctt		Homo sapiens zinc finger protein 844 (ZNF844), mRNA.							88.0	76.0	80.0					19																	12187394		692	1591	2283	SO:0001583	missense	284391				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12187394T>C	AL832297	CCDS45985.1	19p13.2	2013-01-08			ENSG00000223547	ENSG00000223547		"""Zinc fingers, C2H2-type"", ""-"""	25932	protein-coding gene	gene with protein product							Standard	NM_001136501		Approved	FLJ14959	uc002mtb.2	Q08AG5	OTTHUMG00000156405	ENST00000439326.3:c.1459T>C	19.37:g.12187394T>C	ENSP00000392024:p.Phe487Leu					ZNF844_uc010dym.1_Missense_Mutation_p.F330L	p.F487L	NM_001136501	NP_001129973	Q08AG5	ZN844_HUMAN			3	1602	+			487					Q5JPI8	Missense_Mutation	SNP	ENST00000439326.3	37	c.1459T>C	CCDS45985.1	.	.	.	.	.	.	.	.	.	.	t	0	-2.727179	0.00091	.	.	ENSG00000223547	ENST00000439326;ENST00000541708	T	0.04862	3.54	2.75	-5.5	0.02576	.	.	.	.	.	T	0.01454	0.0047	N	0.00926	-1.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34976	-0.9807	9	0.11485	T	0.65	.	1.7468	0.02963	0.1644:0.3872:0.2107:0.2378	.	487	Q08AG5	ZN844_HUMAN	L	487	ENSP00000392024:F487L	ENSP00000392024:F487L	F	+	1	0	ZNF844	12048394	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-14.436000	0.00000	-6.151000	0.00006	-3.187000	0.00055	TTT		0.448	ZNF844-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344086.2		
CIC	23152	broad.mit.edu	37	19	42795881	42795881	+	Frame_Shift_Del	DEL	C	C	-			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr19:42795881delC	ENST00000575354.2	+	11	2910	c.2870delC	c.(2869-2871)gccfs	p.A957fs	CIC_ENST00000160740.3_Frame_Shift_Del_p.A957fs|CIC_ENST00000572681.2_Frame_Shift_Del_p.A1866fs	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	957	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CAGAATGGTGCCCAGCCCCCC	0.602			"""Mis, F, S"""		oligodendroglioma																																	uc002otf.1				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(2869-2871)gccfs		Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.							36.0	41.0	39.0					19																	42795881		2114	4170	6284	SO:0001589	frameshift_variant	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42795881delC	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.2870delC	19.37:g.42795881delC	ENSP00000458663:p.Ala957fs						p.A957fs	NM_015125	NP_055940	Q96RK0	CIC_HUMAN			10	2910	+		Prostate(69;0.00682)	957			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Frame_Shift_Del	DEL	ENST00000575354.2	37	c.2870delC	CCDS12601.1																																																																																				0.602	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2		
GPR4	2828	broad.mit.edu	37	19	46094298	46094298	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr19:46094298C>T	ENST00000323040.4	-	2	1771	c.827G>A	c.(826-828)aGc>aAc	p.S276N	OPA3_ENST00000544371.1_Intron|GPR4_ENST00000591614.1_5'Flank	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	276					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		ACAGTTGAGGCTGGTGAAAGC	0.647																																					Esophageal Squamous(117;181 1612 1673 14956 42937)	uc002pcm.3																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(826-828)aGc>aAc		Homo sapiens G protein-coupled receptor 4 (GPR4), mRNA.							41.0	44.0	43.0					19																	46094298		2203	4300	6503	SO:0001583	missense	2828					integral to plasma membrane	G-protein coupled receptor activity	g.chr19:46094298C>T	BC067536	CCDS12669.1	19q13.3	2012-08-21				ENSG00000177464		"""GPCR / Class A : Orphans"""	4497	protein-coding gene	gene with protein product		600551				8595909	Standard	NM_005282		Approved		uc002pcm.3	P46093		ENST00000323040.4:c.827G>A	19.37:g.46094298C>T	ENSP00000319744:p.Ser276Asn					OPA3_uc010xxk.2_Intron|GPR4_uc021uvw.1_Missense_Mutation_p.S276N	p.S276N	NM_005282	NP_005273	P46093	GPR4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)	1	1772	-			276					A8K3T3|B0M0K1|Q6NWM4	Missense_Mutation	SNP	ENST00000323040.4	37	c.827G>A	CCDS12669.1	.	.	.	.	.	.	.	.	.	.	C	18.88	3.717452	0.68844	.	.	ENSG00000177464	ENST00000323040	T	0.72394	-0.65	4.74	3.68	0.42216	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.77850	0.4192	L	0.58810	1.83	0.37587	D	0.92005	D	0.89917	1.0	D	0.74674	0.984	T	0.79792	-0.1654	10	0.59425	D	0.04	.	7.7729	0.29019	0.1862:0.6338:0.18:0.0	.	276	P46093	GPR4_HUMAN	N	276	ENSP00000319744:S276N	ENSP00000319744:S276N	S	-	2	0	GPR4	50786138	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.900000	0.39828	1.180000	0.42898	0.455000	0.32223	AGC		0.647	GPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459603.1	NM_005282	
ARHGAP35	2909	broad.mit.edu	37	19	47503900	47503901	+	Frame_Shift_Ins	INS	-	-	C			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr19:47503900_47503901insC	ENST00000404338.3	+	6	4455_4456	c.4455_4456insC	c.(4456-4458)cagfs	p.Q1486fs		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	1486	Pro-rich.				axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)										AGTCCCCAATGCAGCCACTGCT	0.649																																						uc010ekv.3																			0											c.(4453-4458)atgcagfs		Homo sapiens Rho GTPase activating protein 35 (ARHGAP35), mRNA.																																				SO:0001589	frameshift_variant	2909				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	g.chr19:47503900_47503901insC	M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.4456dupC	19.37:g.47503901_47503901dupC	ENSP00000385720:p.Gln1486fs						p.M1485fs	NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN			5	4455_4456	+			1485			Pro-rich.		A7E2A4|Q14452|Q9C0E1	Frame_Shift_Ins	INS	ENST00000404338.3	37	c.4455_4456insC	CCDS46127.1																																																																																				0.649	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	NM_004491	
ZNF71	58491	broad.mit.edu	37	19	57132720	57132721	+	Frame_Shift_Ins	INS	-	-	G			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr19:57132720_57132721insG	ENST00000328070.6	+	3	299_300	c.65_66insG	c.(64-69)acggggfs	p.TG22fs		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	22					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		GGGGAGGCCACGGGGGGACCCA	0.554																																						uc002qnm.4																			0				endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26						c.(64-66)acgfs		Homo sapiens zinc finger protein 71 (ZNF71), mRNA.																																				SO:0001589	frameshift_variant	58491					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57132720_57132721insG	X60074	CCDS12947.1	19q13.4	2013-01-08	2006-05-12			ENSG00000197951		"""Zinc fingers, C2H2-type"""	13141	protein-coding gene	gene with protein product		194545	"""zinc finger protein 71 (Cos26)"""			1639391	Standard	NM_021216		Approved	Cos26, EZFIT	uc002qnm.4	Q9NQZ8		ENST00000328070.6:c.71dupG	19.37:g.57132726_57132726dupG	ENSP00000328245:p.Thr22fs					ZNF71_uc021vcg.1_Frame_Shift_Ins_p.T22fs	p.T22fs	NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN		GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)	2	303_304	+			22					Q15919|Q9UC09|Q9UQD3	Frame_Shift_Ins	INS	ENST00000328070.6	37	c.65_66insG	CCDS12947.1																																																																																				0.554	ZNF71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459798.2	NM_021216	
ATP6V1C2	245973	broad.mit.edu	37	2	10912727	10912727	+	Missense_Mutation	SNP	G	G	A	rs267598832		TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr2:10912727G>A	ENST00000272238.4	+	8	738	c.629G>A	c.(628-630)cGa>cAa	p.R210Q	ATP6V1C2_ENST00000381661.3_Missense_Mutation_p.R210Q|RP11-791G15.2_ENST00000606907.1_lincRNA	NM_001039362.1	NP_001034451.1	Q8NEY4	VATC2_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2	210					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of Wnt signaling pathway (GO:0030177)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|protein dimerization activity (GO:0046983)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		GTGGTCCCTCGATCAACCAAG	0.507																																					NSCLC(188;1042 2136 10807 16813 47705)	uc002ras.3																			0		p.P209P(1)|p.R210R(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(628-630)cGa>cAa		Homo sapiens ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2 (ATP6V1C2), transcript variant 1, mRNA.							233.0	235.0	234.0					2																	10912727		2203	4300	6503	SO:0001583	missense	245973				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain		g.chr2:10912727G>A	AY039759	CCDS1674.1, CCDS42653.1	2p25.1	2010-04-21	2006-01-13		ENSG00000143882	ENSG00000143882		"""ATPases / V-type"""	18264	protein-coding gene	gene with protein product			"""ATPase, H+ transporting, lysosomal 42kD, V1 subunit C isoform 2"", ""ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C isoform 2"""			12384298	Standard	XR_426949		Approved	VMA5, ATP6C2	uc002ras.3	Q8NEY4	OTTHUMG00000090459	ENST00000272238.4:c.629G>A	2.37:g.10912727G>A	ENSP00000272238:p.Arg210Gln					ATP6V1C2_uc002rat.3_Missense_Mutation_p.R210Q	p.R210Q	NM_001039362	NP_001034451	Q8NEY4	VATC2_HUMAN		Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)	7	738	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		210					Q96EL8	Missense_Mutation	SNP	ENST00000272238.4	37	c.629G>A	CCDS42653.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.743612	0.89663	.	.	ENSG00000143882	ENST00000272238;ENST00000381661	T;T	0.50548	0.74;0.74	5.12	5.12	0.69794	.	0.055061	0.64402	D	0.000001	T	0.75413	0.3846	M	0.90369	3.11	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.995;0.997	T	0.81415	-0.0943	10	0.72032	D	0.01	-10.3955	18.159	0.89702	0.0:0.0:1.0:0.0	.	210;210	Q8NEY4-2;Q8NEY4	.;VATC2_HUMAN	Q	210	ENSP00000272238:R210Q;ENSP00000371077:R210Q	ENSP00000272238:R210Q	R	+	2	0	ATP6V1C2	10830178	1.000000	0.71417	0.997000	0.53966	0.584000	0.36387	9.512000	0.98008	2.393000	0.81446	0.561000	0.74099	CGA		0.507	ATP6V1C2-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000323555.1	NM_144583	
TET3	200424	broad.mit.edu	37	2	74328397	74328397	+	Silent	SNP	C	C	T			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr2:74328397C>T	ENST00000409262.3	+	9	4077	c.4077C>T	c.(4075-4077)ccC>ccT	p.P1359P		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	1359					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)	p.P636P(1)|p.P1359P(1)		NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GGCTGTTCCCCGGTGAGGGGC	0.657																																						uc002skb.4																			2	Substitution - coding silent(2)	p.P1359P(2)|p.P636P(1)	large_intestine(2)	NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(4075-4077)ccC>ccT		Homo sapiens tet methylcytosine dioxygenase 3 (TET3), mRNA.							20.0	24.0	23.0					2																	74328397		1890	4105	5995	SO:0001819	synonymous_variant	200424						metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr2:74328397C>T		CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"""tet oncogene family member 3"""			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.4077C>T	2.37:g.74328397C>T							p.P1359P	NM_144993	NP_659430	O43151	TET3_HUMAN			8	4077	+			1359					A6NEI3|Q86Z24|Q8TBM9	Silent	SNP	ENST00000409262.3	37	c.4077C>T	CCDS46339.1																																																																																				0.657	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328141.4		
RANBP2	5903	broad.mit.edu	37	2	109388156	109388156	+	Splice_Site	SNP	G	G	A			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr2:109388156G>A	ENST00000283195.6	+	21	7975		c.e21-1			NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2						carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TGGTGTTACAGCAAAAGAGAA	0.348																																						uc002tem.4																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.e21-1		Homo sapiens RAN binding protein 2 (RANBP2), mRNA.							94.0	106.0	102.0					2																	109388156		2203	4300	6503	SO:0001630	splice_region_variant	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109388156G>A	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.7850-1G>A	2.37:g.109388156G>A							p.A2617_splice	NM_006267	NP_006258	P49792	RBP2_HUMAN			21	7976	+			2617					Q13074|Q15280|Q53TE2|Q59FH7	Splice_Site	SNP	ENST00000283195.6	37	c.7850_splice	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	G	16.52	3.145368	0.57044	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	.	.	.	5.26	5.26	0.73747	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4874	0.90834	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RANBP2	108754588	0.994000	0.37717	0.308000	0.25141	0.123000	0.20343	3.704000	0.54815	2.443000	0.82685	0.467000	0.42956	.		0.348	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267	Intron
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	uc002vcs.3				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	3	641	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1		
SCLY	51540	broad.mit.edu	37	2	239002554	239002554	+	Missense_Mutation	SNP	A	A	T			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr2:239002554A>T	ENST00000555827.1	+	9	1038	c.974A>T	c.(973-975)gAc>gTc	p.D325V	SCLY_ENST00000422984.2_Missense_Mutation_p.D231V|SCLY_ENST00000429612.2_Missense_Mutation_p.D119V|SCLY_ENST00000254663.6_Missense_Mutation_p.D333V			Q96I15	SCLY_HUMAN	selenocysteine lyase	325					cellular amino acid metabolic process (GO:0006520)	cytosol (GO:0005829)	pyridoxal phosphate binding (GO:0030170)|selenocysteine lyase activity (GO:0009000)|transferase activity (GO:0016740)			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	22		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)		CACATGAGGGACGTCCGCGAC	0.622																																					Melanoma(24;424 891 11947 32582 36034)|Ovarian(46;648 1065 26199 32764 45893)	uc010fyv.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	22						c.(973-975)gAc>gTc		Homo sapiens selenocysteine lyase (SCLY), mRNA.							41.0	37.0	38.0					2																	239002554		2203	4300	6503	SO:0001583	missense	51540				cellular amino acid metabolic process	cytosol	pyridoxal phosphate binding|selenocysteine lyase activity|transferase activity	g.chr2:239002554A>T	AF175767	CCDS2524.1, CCDS2524.2	2q37.3	2008-02-05			ENSG00000132330	ENSG00000132330			18161	protein-coding gene	gene with protein product	"""putative selenocysteine lyase"""	611056				10692412	Standard	NM_016510		Approved	SCL	uc010fyv.4	Q96I15	OTTHUMG00000133336	ENST00000555827.1:c.974A>T	2.37:g.239002554A>T	ENSP00000450613:p.Asp325Val					SCLY_uc002vxm.4_Missense_Mutation_p.D292V|SCLY_uc010znr.2_Missense_Mutation_p.D231V|SCLY_uc010znq.2_Missense_Mutation_p.D119V	p.D325V	NM_016510	NP_057594	Q96I15	SCLY_HUMAN		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)	8	1105	+		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	325					B9A068|J3KN06|Q53SN1|Q53SN8|Q7L670|Q9NVT7|Q9NZR7	Missense_Mutation	SNP	ENST00000555827.1	37	c.974A>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	4.259|4.259	0.047079|0.047079	0.08243|0.08243	.|.	.|.	ENSG00000132330|ENSG00000132330	ENST00000254663;ENST00000555827;ENST00000422984;ENST00000429612;ENST00000450965|ENST00000433750	D;D;D;T;D|.	0.86694|.	-2.16;-2.16;-2.16;0.89;-2.16|.	5.2|5.2	0.0142|0.0142	0.14099|0.14099	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);|.	0.941356|.	0.09064|.	N|.	0.853937|.	T|T	0.32406|0.32406	0.0828|0.0828	L|L	0.41236|0.41236	1.265|1.265	0.20638|0.20638	N|N	0.99988|0.99988	B;B;B|.	0.24963|.	0.115;0.102;0.066|.	B;B;B|.	0.32393|.	0.145;0.022;0.103|.	T|T	0.27640|0.27640	-1.0068|-1.0068	10|5	0.41790|.	T|.	0.15|.	-13.6956|-13.6956	4.8899|4.8899	0.13722|0.13722	0.5354:0.3025:0.1621:0.0|0.5354:0.3025:0.1621:0.0	.|.	231;119;325|.	E7ESG3;E7ESH3;Q96I15|.	.;.;SCLY_HUMAN|.	V|S	333;325;231;119;155|67	ENSP00000254663:D333V;ENSP00000450613:D325V;ENSP00000416865:D231V;ENSP00000393694:D119V;ENSP00000414053:D155V|.	ENSP00000254663:D325V|.	D|T	+|+	2|1	0|0	SCLY|SCLY	238667293|238667293	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.041000|0.041000	0.13682|0.13682	0.234000|0.234000	0.17930|0.17930	-0.226000|-0.226000	0.09899|0.09899	0.492000|0.492000	0.49549|0.49549	GAC|ACG		0.622	SCLY-204	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_016510	
SPTLC3	55304	broad.mit.edu	37	20	13052999	13052999	+	Silent	SNP	C	C	G			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr20:13052999C>G	ENST00000399002.2	+	3	673	c.399C>G	c.(397-399)gcC>gcG	p.A133A	SPTLC3_ENST00000378194.4_Silent_p.A133A	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	133					small molecule metabolic process (GO:0044281)|sphingoid biosynthetic process (GO:0046520)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25						TCTGCAGTGCCCCAGGGCCTC	0.438																																						uc002wod.1																			0				breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25						c.(397-399)gcC>gcG		Homo sapiens serine palmitoyltransferase, long chain base subunit 3 (SPTLC3), mRNA.	Pyridoxal Phosphate(DB00114)						207.0	212.0	210.0					20																	13052999		1833	4083	5916	SO:0001819	synonymous_variant	55304				sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	g.chr20:13052999C>G	AL109983	CCDS13115.2	20p12.1	2011-07-05	2006-12-21	2006-12-21	ENSG00000172296	ENSG00000172296	2.3.1.50		16253	protein-coding gene	gene with protein product		611120	"""chromosome 20 open reading frame 38"", ""serine palmitoyltransferase, long chain base subunit 2-like (aminotransferase 2)"""	C20orf38, SPTLC2L		17023427	Standard	NM_018327		Approved	LCB2B, FLJ11112, hLCB2b	uc002wod.1	Q9NUV7	OTTHUMG00000031899	ENST00000399002.2:c.399C>G	20.37:g.13052999C>G							p.A133A	NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN			2	688	+			133					A2A2I4|B9EK64|Q05DQ8|Q5T1U4|Q9H1L1|Q9H1Z0	Silent	SNP	ENST00000399002.2	37	c.399C>G	CCDS13115.2																																																																																				0.438	SPTLC3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254544.1	NM_018327	
ZNF831	128611	broad.mit.edu	37	20	57829379	57829379	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr20:57829379G>A	ENST00000371030.2	+	5	4615	c.4615G>A	c.(4615-4617)Gca>Aca	p.A1539T		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1539							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					AGAGGGCAGAGCACAGACCCT	0.498																																						uc002yan.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125						c.(4615-4617)Gca>Aca		Homo sapiens zinc finger protein 831 (ZNF831), mRNA.							38.0	42.0	41.0					20																	57829379		2045	4211	6256	SO:0001583	missense	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57829379G>A	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.4615G>A	20.37:g.57829379G>A	ENSP00000360069:p.Ala1539Thr						p.A1539T	NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN			4	4615	+	all_lung(29;0.0085)		1539					Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	c.4615G>A	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	G	12.34	1.909974	0.33721	.	.	ENSG00000124203	ENST00000371030	T	0.04603	3.59	5.54	-2.51	0.06365	.	0.439309	0.19492	N	0.112962	T	0.02230	0.0069	N	0.22421	0.69	0.09310	N	1	B	0.14805	0.011	B	0.11329	0.006	T	0.42632	-0.9440	10	0.20519	T	0.43	-1.2079	0.347	0.00343	0.2491:0.1616:0.2746:0.3146	.	1539	Q5JPB2	ZN831_HUMAN	T	1539	ENSP00000360069:A1539T	ENSP00000360069:A1539T	A	+	1	0	ZNF831	57262774	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.338000	0.07842	-0.442000	0.07190	-1.069000	0.02264	GCA		0.498	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457	
STAB1	23166	broad.mit.edu	37	3	52536060	52536060	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr3:52536060G>A	ENST00000321725.6	+	4	446	c.370G>A	c.(370-372)Ggg>Agg	p.G124R		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	124	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CAATGGCCACGGGACCTGCTT	0.637																																						uc003dej.3																			0				breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76						c.(370-372)Ggg>Agg		Homo sapiens stabilin 1 (STAB1), mRNA.							55.0	59.0	58.0					3																	52536060		2203	4300	6503	SO:0001583	missense	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52536060G>A	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.370G>A	3.37:g.52536060G>A	ENSP00000312946:p.Gly124Arg					STAB1_uc003dei.1_Missense_Mutation_p.G124R	p.G124R	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	3	444	+			124			EGF-like 1.		A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	37	c.370G>A	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.564404	0.86335	.	.	ENSG00000010327	ENST00000321725	D	0.92647	-3.08	4.36	4.36	0.52297	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.96374	0.8817	M	0.91038	3.17	0.52501	D	0.999953	D;D	0.89917	1.0;1.0	D;D	0.71870	0.975;0.975	D	0.96963	0.9703	10	0.87932	D	0	.	12.7502	0.57304	0.0:0.0:1.0:0.0	.	124;124	Q9NY15;Q9NY15-2	STAB1_HUMAN;.	R	124	ENSP00000312946:G124R	ENSP00000312946:G124R	G	+	1	0	STAB1	52511100	1.000000	0.71417	0.991000	0.47740	0.995000	0.86356	6.736000	0.74811	2.145000	0.66743	0.514000	0.50259	GGG		0.637	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136	
MINA	84864	broad.mit.edu	37	3	97664110	97664110	+	Missense_Mutation	SNP	T	T	C			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr3:97664110T>C	ENST00000333396.7	-	10	1898	c.1316A>G	c.(1315-1317)aAg>aGg	p.K439R	MINA_ENST00000360258.4_Missense_Mutation_p.K438R|MINA_ENST00000394198.2_Missense_Mutation_p.K439R	NM_001042533.2|NM_032778.5	NP_001035998.1|NP_116167.3			MYC induced nuclear antigen											breast(2)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)	13						TTTCAGGTCCTTGACAGAAAT	0.383																																						uc003drz.1																			0				breast(2)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)	13						c.(1315-1317)aAg>aGg		Homo sapiens MYC induced nuclear antigen (MINA), transcript variant 1, mRNA.							103.0	106.0	105.0					3																	97664110		2203	4299	6502	SO:0001583	missense	84864				ribosome biogenesis	cytoplasm|nucleolus		g.chr3:97664110T>C	AB083189	CCDS2929.1, CCDS43114.1	3q22.1	2005-07-22			ENSG00000170854	ENSG00000170854			19441	protein-coding gene	gene with protein product		612049				12091391	Standard	NM_001042533		Approved	MINA53, FLJ14393, mdig	uc003dsb.1	Q8IUF8	OTTHUMG00000160107	ENST00000333396.7:c.1316A>G	3.37:g.97664110T>C	ENSP00000328251:p.Lys439Arg					MINA_uc003dsa.1_Missense_Mutation_p.K438R|MINA_uc003dsb.1_Missense_Mutation_p.K439R|MINA_uc003dsc.1_Missense_Mutation_p.K438R	p.K439R	NM_001042533	NP_694822	Q8IUF8	MINA_HUMAN			9	1822	-			439						Missense_Mutation	SNP	ENST00000333396.7	37	c.1316A>G	CCDS43114.1	.	.	.	.	.	.	.	.	.	.	T	15.91	2.973683	0.53720	.	.	ENSG00000170854	ENST00000442492;ENST00000333396;ENST00000394198;ENST00000360258	T;T;T	0.12879	2.64;2.64;2.64	6.02	6.02	0.97574	.	0.316221	0.38058	N	0.001837	T	0.17959	0.0431	M	0.82323	2.585	0.80722	D	1	P;B	0.34615	0.459;0.329	B;B	0.29598	0.104;0.048	T	0.03394	-1.1041	10	0.23302	T	0.38	-21.7749	10.8164	0.46578	0.0:0.07:0.0:0.93	.	438;439	Q8IUF8-4;Q8IUF8	.;MINA_HUMAN	R	185;439;439;438	ENSP00000328251:K439R;ENSP00000377748:K439R;ENSP00000353395:K438R	ENSP00000328251:K439R	K	-	2	0	MINA	99146800	0.997000	0.39634	1.000000	0.80357	0.980000	0.70556	2.132000	0.42083	2.311000	0.77944	0.533000	0.62120	AAG		0.383	MINA-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359244.3	NM_032778	
EAF2	55840	broad.mit.edu	37	3	121554141	121554141	+	Missense_Mutation	SNP	C	C	A			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr3:121554141C>A	ENST00000273668.2	+	1	80	c.9C>A	c.(7-9)agC>agA	p.S3R	IQCB1_ENST00000310864.6_5'Flank|EAF2_ENST00000465664.1_3'UTR|EAF2_ENST00000451944.2_Missense_Mutation_p.S3R|IQCB1_ENST00000349820.6_5'Flank	NM_018456.4	NP_060926.2	Q96CJ1	EAF2_HUMAN	ELL associated factor 2	3					apoptotic process (GO:0006915)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	ELL-EAF complex (GO:0032783)|transcription elongation factor complex (GO:0008023)	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)			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)	9				GBM - Glioblastoma multiforme(114;0.0972)		TTATGAATAGCGCAGCGGGAT	0.572																																					Esophageal Squamous(194;1942 2097 24663 29345 31866)	uc003een.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)	9						c.(7-9)agC>agA		Homo sapiens ELL associated factor 2 (EAF2), mRNA.							64.0	64.0	64.0					3																	121554141		2203	4300	6503	SO:0001583	missense	55840				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein binding	g.chr3:121554141C>A	AF517829	CCDS3006.1	3q21.1	2007-08-01			ENSG00000145088	ENSG00000145088			23115	protein-coding gene	gene with protein product		607659				12446457, 12907652	Standard	NM_018456		Approved	BM040, TRAITS, U19	uc003een.3	Q96CJ1	OTTHUMG00000159424	ENST00000273668.2:c.9C>A	3.37:g.121554141C>A	ENSP00000273668:p.Ser3Arg					IQCB1_uc010hrf.1_5'Flank|IQCB1_uc010hre.1_5'Flank|IQCB1_uc003eek.2_5'Flank|EAF2_uc003eem.3_Non-coding_Transcript|EAF2_uc003eeo.3_5'UTR	p.S3R	NM_018456	NP_060926	Q96CJ1	EAF2_HUMAN		GBM - Glioblastoma multiforme(114;0.0972)	0	108	+			3					Q9NZ82	Missense_Mutation	SNP	ENST00000273668.2	37	c.9C>A	CCDS3006.1	.	.	.	.	.	.	.	.	.	.	C	13.98	2.397822	0.42512	.	.	ENSG00000145088	ENST00000273668;ENST00000451944	.	.	.	5.66	-0.811	0.10857	.	0.108661	0.64402	D	0.000006	T	0.13329	0.0323	N	0.08118	0	0.09310	N	0.99999	B	0.28082	0.2	B	0.24269	0.052	T	0.10660	-1.0620	9	0.66056	D	0.02	-4.7273	1.7381	0.02946	0.2261:0.337:0.3014:0.1355	.	3	Q96CJ1	EAF2_HUMAN	R	3	.	ENSP00000273668:S3R	S	+	3	2	EAF2	123036831	0.873000	0.30073	0.127000	0.21898	0.006000	0.05464	0.700000	0.25601	-0.114000	0.11936	-0.251000	0.11542	AGC		0.572	EAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355247.1	NM_018456	
CLSTN2	64084	broad.mit.edu	37	3	140281698	140281698	+	Missense_Mutation	SNP	G	G	A	rs200855654		TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr3:140281698G>A	ENST00000458420.3	+	14	2448	c.2258G>A	c.(2257-2259)cGc>cAc	p.R753H		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	753					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CATCACATCCGCTACCGCAAC	0.552										HNSCC(16;0.037)			G|||	1	0.000199681	0.0	0.0014	5008	,	,		20764	0.0		0.0	False		,,,				2504	0.0				GBM(45;858 913 3709 36904 37282)	uc003etn.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						c.(2257-2259)cGc>cAc		Homo sapiens calsyntenin 2 (CLSTN2), mRNA.							58.0	56.0	57.0					3																	140281698		2203	4300	6503	SO:0001583	missense	64084				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr3:140281698G>A	AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"""Cadherins / Cadherin-related"""	17448	protein-coding gene	gene with protein product	"""cadherin-related family member 13"""	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.2258G>A	3.37:g.140281698G>A	ENSP00000402460:p.Arg753His	HNSCC(16;0.037)					p.R753H	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN			13	2448	+			753					B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP	ENST00000458420.3	37	c.2258G>A	CCDS3112.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	11.25	1.582887	0.28268	.	.	ENSG00000158258	ENST00000458420	T	0.33654	1.4	4.83	3.04	0.35103	.	0.101356	0.64402	N	0.000003	T	0.33000	0.0848	M	0.71581	2.175	0.46927	D	0.99925	B	0.28850	0.225	B	0.20184	0.028	T	0.08166	-1.0735	9	.	.	.	-4.8878	9.572	0.39433	0.1752:0.0:0.8248:0.0	.	753	Q9H4D0	CSTN2_HUMAN	H	753	ENSP00000402460:R753H	.	R	+	2	0	CLSTN2	141764388	1.000000	0.71417	0.978000	0.43139	0.162000	0.22319	4.201000	0.58439	0.572000	0.29383	-0.993000	0.02533	CGC		0.552	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131	
LRRIQ4	344657	broad.mit.edu	37	3	169555374	169555374	+	Silent	SNP	A	A	G			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr3:169555374A>G	ENST00000340806.6	+	5	1638	c.1638A>G	c.(1636-1638)ggA>ggG	p.G546G		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	546										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						ATAAGAAAGGAAAGAAGGATG	0.363																																						uc003fgb.3																			0		p.K545K(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						c.(1636-1638)ggA>ggG		Homo sapiens leucine-rich repeats and IQ motif containing 4 (LRRIQ4), mRNA.							52.0	47.0	48.0					3																	169555374		1814	4083	5897	SO:0001819	synonymous_variant	344657							g.chr3:169555374A>G		CCDS46951.1	3q26.2	2008-08-08	2008-06-12	2008-06-12	ENSG00000188306	ENSG00000188306			34298	protein-coding gene	gene with protein product	"""leucine rich repeat containing 64"""						Standard	NM_001080460		Approved	LRRC64	uc003fgb.3	A6NIV6	OTTHUMG00000164420	ENST00000340806.6:c.1638A>G	3.37:g.169555374A>G							p.G546G	NM_001080460	NP_001073929	A6NIV6	LRIQ4_HUMAN			4	1638	+			546						Silent	SNP	ENST00000340806.6	37	c.1638A>G	CCDS46951.1																																																																																				0.363	LRRIQ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378698.1	NM_001080460	
SLC7A14	57709	broad.mit.edu	37	3	170219101	170219101	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr3:170219101G>A	ENST00000231706.5	-	3	653	c.338C>T	c.(337-339)cCc>cTc	p.P113L	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	113					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			TGTGGTCTTGGGGACTCGAAC	0.507																																						uc003fgz.2																			0		p.V112V(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53						c.(337-339)cCc>cTc		Homo sapiens solute carrier family 7 (orphan transporter), member 14 (SLC7A14), mRNA.							74.0	72.0	73.0					3																	170219101		2203	4300	6503	SO:0001583	missense	57709					integral to membrane	amino acid transmembrane transporter activity	g.chr3:170219101G>A	BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293		"""Solute carriers"""	29326	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 142"""	615720					Standard	NM_020949		Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.338C>T	3.37:g.170219101G>A	ENSP00000231706:p.Pro113Leu					CLDN11_uc011bpt.1_Intron|CLDN11_uc003fha.1_Intron	p.P113L	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)		2	654	-	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		113					B3KV33|Q9HCF9	Missense_Mutation	SNP	ENST00000231706.5	37	c.338C>T	CCDS33892.1	.	.	.	.	.	.	.	.	.	.	G	34	5.365930	0.95900	.	.	ENSG00000013293	ENST00000231706	D	0.89552	-2.53	5.59	5.59	0.84812	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.96399	0.8825	H	0.94423	3.535	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96920	0.9673	10	0.87932	D	0	.	19.961	0.97250	0.0:0.0:1.0:0.0	.	113	Q8TBB6	S7A14_HUMAN	L	113	ENSP00000231706:P113L	ENSP00000231706:P113L	P	-	2	0	SLC7A14	171701795	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.779000	0.99018	2.783000	0.95769	0.655000	0.94253	CCC		0.507	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352598.2	NM_020949	
CSF2	1437	broad.mit.edu	37	5	131409784	131409784	+	Missense_Mutation	SNP	T	T	C			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr5:131409784T>C	ENST00000296871.2	+	2	204	c.170T>C	c.(169-171)gTa>gCa	p.V57A		NM_000758.3	NP_000749.2	P04141	CSF2_HUMAN	colony stimulating factor 2 (granulocyte-macrophage)	57					cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|embryonic placenta development (GO:0001892)|epithelial fluid transport (GO:0042045)|immune response (GO:0006955)|macrophage activation (GO:0042116)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cytolysis (GO:0045918)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of gene expression (GO:0010628)|positive regulation of interleukin-23 production (GO:0032747)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of podosome assembly (GO:0071803)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	granulocyte macrophage colony-stimulating factor receptor binding (GO:0005129)			skin(1)	1		all_cancers(142;4.28e-07)|all_lung(232;2.81e-05)|Lung NSC(810;0.000693)|Lung SC(612;0.122)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AATGAAACAGTAGAAGTCATC	0.517																																						uc003kwf.3																			0				skin(1)	1						c.(169-171)gTa>gCa		Homo sapiens colony stimulating factor 2 (granulocyte-macrophage) (CSF2), mRNA.	Sargramostim(DB00020)						67.0	65.0	65.0					5																	131409784		2203	4300	6503	SO:0001583	missense	1437				immune response|negative regulation of cytolysis|positive regulation of DNA replication|positive regulation of interleukin-23 production|positive regulation of macrophage derived foam cell differentiation|positive regulation of podosome assembly|positive regulation of tyrosine phosphorylation of Stat5 protein	extracellular space	cytokine activity|granulocyte macrophage colony-stimulating factor receptor binding|growth factor activity	g.chr5:131409784T>C	M11734	CCDS4150.1	5q23-q31	2012-10-02			ENSG00000164400	ENSG00000164400			2434	protein-coding gene	gene with protein product	"""sargramostim"", ""molgramostin"", ""granulocyte-macrophage colony stimulating factor"""	138960				3898082, 2999978	Standard	NM_000758		Approved	GM-CSF, GMCSF	uc003kwf.4	P04141	OTTHUMG00000059637	ENST00000296871.2:c.170T>C	5.37:g.131409784T>C	ENSP00000296871:p.Val57Ala						p.V57A	NM_000758	NP_000749	P04141	CSF2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		1	202	+		all_cancers(142;4.28e-07)|all_lung(232;2.81e-05)|Lung NSC(810;0.000693)|Lung SC(612;0.122)|Breast(839;0.198)	57					Q14CE8|Q2VPI8|Q8NFI6	Missense_Mutation	SNP	ENST00000296871.2	37	c.170T>C	CCDS4150.1	.	.	.	.	.	.	.	.	.	.	T	10.70	1.424682	0.25639	.	.	ENSG00000164400	ENST00000296871	T	0.39406	1.08	4.8	2.37	0.29283	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.298038	0.24341	N	0.039377	T	0.55194	0.1905	M	0.64170	1.965	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.42275	-0.9461	10	0.87932	D	0	-0.1637	6.1564	0.20340	0.0:0.2129:0.0:0.7871	.	57	P04141	CSF2_HUMAN	A	57	ENSP00000296871:V57A	ENSP00000296871:V57A	V	+	2	0	CSF2	131437683	0.274000	0.24191	0.015000	0.15790	0.023000	0.10783	0.719000	0.25881	0.411000	0.25702	-0.290000	0.09829	GTA		0.517	CSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132636.2	NM_000758	
PDE6A	5145	broad.mit.edu	37	5	149323959	149323959	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr5:149323959C>T	ENST00000255266.5	-	1	397	c.278G>A	c.(277-279)cGc>cAc	p.R93H		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	93	GAF 1.				cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Caffeine(DB00201)	CAGGCTCATGCGGTCTGCCTG	0.522																																						uc003lrg.4																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44						c.(277-279)cGc>cAc		Homo sapiens phosphodiesterase 6A, cGMP-specific, rod, alpha (PDE6A), mRNA.							78.0	78.0	78.0					5																	149323959		2203	4300	6503	SO:0001583	missense	5145				cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr5:149323959C>T		CCDS4299.1	5q31.2-q34	2013-02-14			ENSG00000132915	ENSG00000132915	3.1.4.17	"""Phosphodiesterases"""	8785	protein-coding gene	gene with protein product		180071		PDEA		2155175	Standard	NM_000440		Approved	RP43	uc003lrg.4	P16499	OTTHUMG00000130047	ENST00000255266.5:c.278G>A	5.37:g.149323959C>T	ENSP00000255266:p.Arg93His					PDE6A_uc021yfs.1_Missense_Mutation_p.R93H	p.R93H	NM_000440	NP_000431	P16499	PDE6A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		0	398	-			93			GAF 1.		Q0P638	Missense_Mutation	SNP	ENST00000255266.5	37	c.278G>A	CCDS4299.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.238273	0.79800	.	.	ENSG00000132915	ENST00000255266	T	0.74842	-0.88	5.47	5.47	0.80525	GAF (2);	0.055697	0.64402	D	0.000001	D	0.83880	0.5350	H	0.95402	3.665	0.54753	D	0.999986	P	0.39940	0.696	B	0.40940	0.344	D	0.87992	0.2750	10	0.62326	D	0.03	.	16.8098	0.85716	0.0:1.0:0.0:0.0	.	93	P16499	PDE6A_HUMAN	H	93	ENSP00000255266:R93H	ENSP00000255266:R93H	R	-	2	0	PDE6A	149304152	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.081000	0.71309	2.569000	0.86673	0.561000	0.74099	CGC		0.522	PDE6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252326.2		
SOX30	11063	broad.mit.edu	37	5	157065654	157065654	+	Silent	SNP	G	G	A			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr5:157065654G>A	ENST00000265007.6	-	4	1805	c.1464C>T	c.(1462-1464)agC>agT	p.S488S	SOX30_ENST00000519442.1_Silent_p.S183S|SOX30_ENST00000311371.5_Intron	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	488					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to corticosteroid (GO:0031960)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CACTGGAGACGCTGGGCTGGA	0.532																																					Esophageal Squamous(31;525 799 19355 21125 41744)	uc003lxb.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23						c.(1462-1464)agC>agT		Homo sapiens SRY (sex determining region Y)-box 30 (SOX30), transcript variant 1, mRNA.							60.0	61.0	61.0					5																	157065654		2203	4300	6503	SO:0001819	synonymous_variant	11063				regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity	g.chr5:157065654G>A	AB022083	CCDS4339.1, CCDS4340.1	5q33	2010-10-21			ENSG00000039600	ENSG00000039600		"""SRY (sex determining region Y)-boxes"""	30635	protein-coding gene	gene with protein product		606698				15019997, 11678506	Standard	NM_178424		Approved		uc003lxb.1	O94993	OTTHUMG00000130247	ENST00000265007.6:c.1464C>T	5.37:g.157065654G>A						SOX30_uc003lxc.1_Intron|SOX30_uc011dds.1_Silent_p.S183S	p.S488S	NM_178424	NP_848511	O94993	SOX30_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		3	1806	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	488					O94995|Q8IYX6	Silent	SNP	ENST00000265007.6	37	c.1464C>T	CCDS4339.1																																																																																				0.532	SOX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252571.2	NM_007017	
GMCL1P1	64396	broad.mit.edu	37	5	177612831	177612831	+	IGR	SNP	G	G	T			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr5:177612831G>T								NHP2 (31863 upstream) : HNRNPAB (18676 downstream)																							TGCTGTCCAAGTTCATCACCA	0.358																																						uc003mit.1																			0											c.(1468-1470)aaC>aaA		Homo sapiens germ cell-less homolog 1 (Drosophila) pseudogene 1 (GMCL1P1), non-coding RNA.																																				SO:0001628	intergenic_variant	64396							g.chr5:177612831G>T																													5.37:g.177612831G>T							p.N490K							0	1603	-									Missense_Mutation	SNP		37	c.1470C>A																																																																																				0	0.358								
FARS2	10667	broad.mit.edu	37	6	5613545	5613545	+	Silent	SNP	A	A	T	rs147628137		TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr6:5613545A>T	ENST00000324331.6	+	6	1545	c.1209A>T	c.(1207-1209)gtA>gtT	p.V403V	FARS2_ENST00000274680.4_Silent_p.V403V			O95363	SYFM_HUMAN	phenylalanyl-tRNA synthetase 2, mitochondrial	403	FDX-ACB. {ECO:0000255|PROSITE- ProRule:PRU00778}.				gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|tRNA binding (GO:0000049)			endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)	ACAAGTTTGTACATCCAAAGT	0.393																																						uc010jnv.1																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15						c.(1207-1209)gtA>gtT		Homo sapiens phenylalanyl-tRNA synthetase 2, mitochondrial (FARS2), nuclear gene encoding mitochondrial protein, mRNA.	L-Phenylalanine(DB00120)						97.0	96.0	96.0					6																	5613545		2203	4300	6503	SO:0001819	synonymous_variant	10667				phenylalanyl-tRNA aminoacylation|tRNA processing	mitochondrial matrix|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding	g.chr6:5613545A>T	AF097441	CCDS4494.1	6p25.1	2011-07-01	2007-02-23	2004-12-03	ENSG00000145982	ENSG00000145982	6.1.1.20	"""Aminoacyl tRNA synthetases / Class II"""	21062	protein-coding gene	gene with protein product	"""phenylalanine tRNA ligase 2, mitochondrial"""	611592	"""phenylalanine-tRNA synthetase 1 (mitochondrial)"""	FARS1		10329163	Standard	NM_006567		Approved	dJ236A3.1	uc003mwr.2	O95363	OTTHUMG00000014178	ENST00000324331.6:c.1209A>T	6.37:g.5613545A>T						FARS2_uc003mwr.2_Silent_p.V403V	p.V403V	NM_006567	NP_006558	O95363	SYFM_HUMAN			5	1545	+	Ovarian(93;0.11)	all_hematologic(90;0.0104)	403			FDX-ACB.		B2R664|Q53F66|Q5TCS3|Q6FG29|Q9NPY7|Q9P062	Silent	SNP	ENST00000324331.6	37	c.1209A>T	CCDS4494.1																																																																																				0.393	FARS2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467790.1	NM_006567	
MDC1	9656	broad.mit.edu	37	6	30680501	30680501	+	Silent	SNP	G	G	A			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr6:30680501G>A	ENST00000376406.3	-	5	1865	c.1218C>T	c.(1216-1218)gaC>gaT	p.D406D	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000494654.1_5'Flank|MDC1_ENST00000376405.2_Silent_p.D406D	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	406	Required for nuclear localization (NLS1).				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						CTTCTTCCTCGTCATCTGTAT	0.522								Other conserved DNA damage response genes																														uc003nrg.4																			0				breast(2)|kidney(1)|ovary(1)	4						c.(1216-1218)gaC>gaT	Other conserved DNA damage response genes	Homo sapiens mediator of DNA-damage checkpoint 1 (MDC1), mRNA.							88.0	87.0	87.0					6																	30680501		1510	2708	4218	SO:0001819	synonymous_variant	9656				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	g.chr6:30680501G>A	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.1218C>T	6.37:g.30680501G>A						MDC1_uc003nrf.4_Silent_p.D60D|MDC1_uc011dmp.1_Silent_p.D278D|MDC1_uc003nrh.1_Silent_p.D278D|MDC1_uc003nri.2_Silent_p.D406D	p.D406D	NM_014641	NP_055456	Q14676	MDC1_HUMAN			4	1658	-			406			Required for nuclear localization (NLS1).		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Silent	SNP	ENST00000376406.3	37	c.1218C>T	CCDS34384.1																																																																																				0.522	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641	
LTA	4049	broad.mit.edu	37	6	31540609	31540609	+	Silent	SNP	T	T	C			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr6:31540609T>C	ENST00000454783.1	+	2	348	c.90T>C	c.(88-90)ccT>ccC	p.P30P	TNF_ENST00000449264.2_5'Flank|LTA_ENST00000418386.2_Silent_p.P30P	NM_001159740.2	NP_001153212.1	P01374	TNFB_HUMAN	lymphotoxin alpha	30					apoptotic process (GO:0006915)|cell-cell signaling (GO:0007267)|defense response to Gram-positive bacterium (GO:0050830)|humoral immune response (GO:0006959)|lymph node development (GO:0048535)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of growth of symbiont in host (GO:0044130)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chronic inflammatory response to antigenic stimulus (GO:0002876)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of interferon-gamma production (GO:0032729)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|membrane (GO:0016020)	receptor binding (GO:0005102)			endometrium(2)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9					Etanercept(DB00005)	TTCTGCTGCCTGGGGCCCAGG	0.632																																						uc011dnu.1																			0				endometrium(2)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9						c.(88-90)ccT>ccC		Homo sapiens lymphotoxin alpha (TNF superfamily, member 1) (LTA), transcript variant 1, mRNA.	Etanercept(DB00005)						64.0	67.0	66.0					6																	31540609		1511	2708	4219	SO:0001819	synonymous_variant	4049				cell-cell signaling|induction of apoptosis|signal transduction	extracellular space|membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr6:31540609T>C	X01393	CCDS4701.1	6p21.3	2013-05-22	2013-05-22		ENSG00000226979	ENSG00000226979		"""Tumor necrosis factor (ligand) superfamily"""	6709	protein-coding gene	gene with protein product	"""TNF superfamily member 1"""	153440	"""lymphotoxin alpha (TNF superfamily, member 1)"""	TNFB		2995927, 3001529	Standard	NM_001159740		Approved	TNFSF1, LT	uc011dnu.2	P01374	OTTHUMG00000031135	ENST00000454783.1:c.90T>C	6.37:g.31540609T>C						LTA_uc003nue.1_Silent_p.P30P|LTA_uc003nuf.3_5'Flank|LTA_uc003nuh.3_5'Flank|LTA_uc003nug.3_5'Flank|LTA_uc010jsr.3_5'Flank|TNF_uc003nui.3_5'Flank	p.P30P	NM_001159740	NP_001153212	P01374	TNFB_HUMAN			1	303	+			30					Q8N4C3|Q9UKS8	Silent	SNP	ENST00000454783.1	37	c.90T>C	CCDS4701.1																																																																																				0.632	LTA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259097.1		
GRM4	2914	broad.mit.edu	37	6	34003985	34003985	+	Silent	SNP	G	G	A			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr6:34003985G>A	ENST00000538487.2	-	9	2345	c.1902C>T	c.(1900-1902)ttC>ttT	p.F634F	GRM4_ENST00000455714.2_Silent_p.F494F|GRM4_ENST00000374177.3_Silent_p.F518F|GRM4_ENST00000535756.1_Silent_p.F501F|GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000374181.4_Silent_p.F634F|GRM4_ENST00000544773.2_Silent_p.F465F|GRM4_ENST00000609222.1_Silent_p.F501F	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	634					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CATAGCACAGGAAGATGCCTG	0.592																																						uc003oir.4																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(1900-1902)ttC>ttT		Homo sapiens glutamate receptor, metabotropic 4 (GRM4), mRNA.	L-Glutamic Acid(DB00142)						97.0	83.0	88.0					6																	34003985		2203	4300	6503	SO:0001819	synonymous_variant	2914				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:34003985G>A	U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.1902C>T	6.37:g.34003985G>A						GRM4_uc011dsn.2_Silent_p.F587F|GRM4_uc010jvh.3_Silent_p.F634F|GRM4_uc010jvi.3_Silent_p.F326F|GRM4_uc003oio.3_Silent_p.F326F|GRM4_uc003oip.3_Non-coding_Transcript|GRM4_uc011dsl.2_Silent_p.F494F|GRM4_uc003oiq.3_Silent_p.F501F|GRM4_uc011dsm.2_Silent_p.F465F	p.F634F	NM_000841	NP_000832	Q14833	GRM4_HUMAN			7	2265	-			634					B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Silent	SNP	ENST00000538487.2	37	c.1902C>T	CCDS4787.1																																																																																				0.592	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040213.2		
LAMA2	3908	broad.mit.edu	37	6	129663557	129663557	+	Nonsense_Mutation	SNP	G	G	T			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr6:129663557G>T	ENST00000421865.2	+	30	4430	c.4381G>T	c.(4381-4383)Gga>Tga	p.G1461*		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1461	Laminin EGF-like 15. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AATTGTCAAGGGATTGCCAAA	0.403																																						uc021zfb.1																			0		p.K1460K(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194						c.(4381-4383)Gga>Tga		Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.							162.0	150.0	154.0					6																	129663557		2203	4300	6503	SO:0001587	stop_gained	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129663557G>T	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.4381G>T	6.37:g.129663557G>T	ENSP00000400365:p.Gly1461*					LAMA2_uc003qbn.3_Nonsense_Mutation_p.G1461*|LAMA2_uc003qbo.3_Nonsense_Mutation_p.G1461*	p.G1461*	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	29	4486	+			1461			Laminin EGF-like 15.		Q14736|Q5VUM2|Q93022	Nonsense_Mutation	SNP	ENST00000421865.2	37	c.4381G>T	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	G	45	11.735711	0.99597	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	.	.	.	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	18.6919	0.91586	0.0:0.0:1.0:0.0	.	.	.	.	X	1461	.	ENSP00000346769:G1461X	G	+	1	0	LAMA2	129705250	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.702000	0.74628	2.785000	0.95823	0.655000	0.94253	GGA		0.403	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1		
HIVEP2	3097	broad.mit.edu	37	6	143093267	143093267	+	Missense_Mutation	SNP	T	T	C			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr6:143093267T>C	ENST00000367604.1	-	4	3248	c.2609A>G	c.(2608-2610)cAg>cGg	p.Q870R	HIVEP2_ENST00000367603.2_Missense_Mutation_p.Q870R|HIVEP2_ENST00000012134.2_Missense_Mutation_p.Q870R			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	870					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(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GGACTGCTGCTGCACCTGCTG	0.557																																					Esophageal Squamous(107;843 1510 13293 16805 42198)	uc003qjd.3																			0				NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100						c.(2608-2610)cAg>cGg		Homo sapiens human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2), mRNA.							73.0	80.0	77.0					6																	143093267		2080	4223	6303	SO:0001583	missense	3097				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:143093267T>C	M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.2609A>G	6.37:g.143093267T>C	ENSP00000356576:p.Gln870Arg						p.Q870R	NM_006734	NP_006725	P31629	ZEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)	4	3352	-			870					Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	ENST00000367604.1	37	c.2609A>G	CCDS43510.1	.	.	.	.	.	.	.	.	.	.	T	0.134	-1.110597	0.01813	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.10960	2.82;2.82;2.82	4.98	-4.73	0.03259	.	0.764118	0.13130	N	0.411560	T	0.02230	0.0069	L	0.36672	1.1	0.09310	N	1	B	0.27559	0.181	B	0.18561	0.022	T	0.37842	-0.9688	10	0.10902	T	0.67	-15.2404	17.5008	0.87731	0.0:0.0:0.7309:0.2691	.	870	P31629	ZEP2_HUMAN	R	870	ENSP00000356576:Q870R;ENSP00000356575:Q870R;ENSP00000012134:Q870R	ENSP00000012134:Q870R	Q	-	2	0	HIVEP2	143134960	0.028000	0.19301	0.001000	0.08648	0.375000	0.29983	0.076000	0.14712	-1.005000	0.03417	0.482000	0.46254	CAG		0.557	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1		
ARID1B	57492	broad.mit.edu	37	6	157488293	157488293	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr6:157488293C>T	ENST00000350026.5	+	9	2961	c.2960C>T	c.(2959-2961)gCg>gTg	p.A987V	ARID1B_ENST00000367148.1_Missense_Mutation_p.A987V|ARID1B_ENST00000275248.4_Missense_Mutation_p.A929V|ARID1B_ENST00000346085.5_Missense_Mutation_p.A1000V|ARID1B_ENST00000478761.2_3'UTR	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	987					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TACAGCATGGCGCCCGCCATG	0.597																																						uc003qqp.3																			0				NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81						c.(2959-2961)gCg>gTg		Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA.							77.0	86.0	83.0					6																	157488293		2203	4296	6499	SO:0001583	missense	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157488293C>T	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.2960C>T	6.37:g.157488293C>T	ENSP00000055163:p.Ala987Val					ARID1B_uc003qqo.3_Missense_Mutation_p.A1000V|ARID1B_uc003qqn.3_Missense_Mutation_p.A987V	p.A987V	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	8	2960	+		Breast(66;0.000162)|Ovarian(120;0.0265)	987					Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	ENST00000350026.5	37	c.2960C>T	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	C	15.12	2.739655	0.49045	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000354354;ENST00000414678;ENST00000319584;ENST00000400790	T;T;T;T;T;T;T	0.25912	4.75;4.76;4.78;4.78;4.48;2.23;1.77	5.75	5.75	0.90469	.	0.631888	0.17574	N	0.169349	T	0.07503	0.0189	N	0.14661	0.345	0.09310	N	1	B;P;B;B	0.35226	0.165;0.491;0.052;0.052	B;B;B;B	0.25405	0.038;0.06;0.023;0.023	T	0.17561	-1.0365	10	0.42905	T	0.14	.	18.1404	0.89637	0.0:1.0:0.0:0.0	.	237;987;1000;929	Q8NFD5-4;Q8NFD5;Q8NFD5-2;G3XAA0	.;ARI1B_HUMAN;.;.	V	1000;987;987;929;404;456;409;54	ENSP00000344546:A1000V;ENSP00000055163:A987V;ENSP00000356116:A987V;ENSP00000275248:A929V;ENSP00000412835:A456V;ENSP00000313006:A409V;ENSP00000383596:A54V	ENSP00000275248:A929V	A	+	2	0	ARID1B	157529985	0.770000	0.28543	0.208000	0.23602	0.880000	0.50808	4.537000	0.60643	2.716000	0.92895	0.655000	0.94253	GCG		0.597	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732	
ITGB8	3696	broad.mit.edu	37	7	20420296	20420296	+	Missense_Mutation	SNP	A	A	G			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr7:20420296A>G	ENST00000222573.4	+	5	1327	c.643A>G	c.(643-645)Aat>Gat	p.N215D	ITGB8_ENST00000537992.1_Missense_Mutation_p.N80D	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	215	VWFA.				cartilage development (GO:0051216)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|ganglioside metabolic process (GO:0001573)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of gene expression (GO:0010629)|placenta blood vessel development (GO:0060674)|positive regulation of gene expression (GO:0010628)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	extracellular matrix protein binding (GO:1990430)|receptor activity (GO:0004872)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						CAGTGACTACAATTTAGACTG	0.388																																						uc003suu.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						c.(643-645)Aat>Gat		Homo sapiens integrin, beta 8 (ITGB8), mRNA.							97.0	94.0	95.0					7																	20420296		2203	4300	6503	SO:0001583	missense	3696				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity	g.chr7:20420296A>G		CCDS5370.1	7p15.3	2010-03-23			ENSG00000105855	ENSG00000105855		"""Integrins"""	6163	protein-coding gene	gene with protein product		604160					Standard	XM_005249751		Approved		uc003suu.3	P26012	OTTHUMG00000023594	ENST00000222573.4:c.643A>G	7.37:g.20420296A>G	ENSP00000222573:p.Asn215Asp					ITGB8_uc011jyh.2_Missense_Mutation_p.N80D|ITGB8_uc003sut.3_Missense_Mutation_p.N215D	p.N215D	NM_002214	NP_002205	P26012	ITB8_HUMAN			4	1348	+			215			VWFA.		A4D133|B4DHD4	Missense_Mutation	SNP	ENST00000222573.4	37	c.643A>G	CCDS5370.1	.	.	.	.	.	.	.	.	.	.	A	12.36	1.915164	0.33815	.	.	ENSG00000105855	ENST00000537992;ENST00000222573	D;D	0.97731	-4.51;-4.51	6.07	4.94	0.65067	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.065142	0.64402	D	0.000006	D	0.91935	0.7446	N	0.16602	0.42	0.37713	D	0.924646	B;B	0.15719	0.014;0.007	B;B	0.17433	0.018;0.011	D	0.86991	0.2110	10	0.07482	T	0.82	-27.0934	7.7918	0.29125	0.7988:0.0:0.2012:0.0	.	215;215	P26012;Q9BUG9	ITB8_HUMAN;.	D	80;215	ENSP00000441561:N80D;ENSP00000222573:N215D	ENSP00000222573:N215D	N	+	1	0	ITGB8	20386821	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	4.556000	0.60775	2.326000	0.78906	0.533000	0.62120	AAT		0.388	ITGB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059915.3	NM_002214	
MTERF1	7978	broad.mit.edu	37	7	91503603	91503603	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr7:91503603G>A	ENST00000351870.3	-	3	598	c.505C>T	c.(505-507)Cgg>Tgg	p.R169W	MTERF_ENST00000481516.1_5'Flank|MTERF_ENST00000419292.1_Missense_Mutation_p.R149W|MTERF_ENST00000406735.2_Missense_Mutation_p.R149W	NM_006980.3	NP_008911.1	Q99551	MTEF1_HUMAN		169	Interaction with DNA.				DNA geometric change (GO:0032392)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of mitochondrial transcription (GO:0006393)|transcription from mitochondrial promoter (GO:0006390)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|skin(1)	14	all_cancers(62;2.28e-09)|all_epithelial(64;1.07e-07)|Breast(17;0.00371)|all_hematologic(106;0.091)|all_lung(186;0.178)|Lung NSC(181;0.235)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.0993)|Kidney(17;0.118)|Epithelial(20;0.136)|LUSC - Lung squamous cell carcinoma(200;0.176)			TTATTGGACCGAAAAAAGGAT	0.398																																						uc003ulc.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|skin(1)	14						c.(505-507)Cgg>Tgg		Homo sapiens mitochondrial transcription termination factor (MTERF), nuclear gene encoding mitochondrial protein, mRNA.							81.0	83.0	82.0					7																	91503603		2203	4300	6503	SO:0001583	missense	7978				DNA geometric change|regulation of transcription, DNA-dependent|termination of mitochondrial transcription	mitochondrial nucleoid	double-stranded DNA binding	g.chr7:91503603G>A																												ENST00000351870.3:c.505C>T	7.37:g.91503603G>A	ENSP00000248643:p.Arg169Trp					MTERF_uc010let.1_Intron|MTERF_uc011khm.1_Missense_Mutation_p.R149W|MTERF_uc010leu.1_Missense_Mutation_p.R149W	p.R169W	NM_006980	NP_008911	Q99551	MTERF_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.0993)|Kidney(17;0.118)|Epithelial(20;0.136)|LUSC - Lung squamous cell carcinoma(200;0.176)		2	581	-	all_cancers(62;2.28e-09)|all_epithelial(64;1.07e-07)|Breast(17;0.00371)|all_hematologic(106;0.091)|all_lung(186;0.178)|Lung NSC(181;0.235)		169			Interaction with DNA.		A4D1E3|Q32NF8|Q53H51|Q9BVR7	Missense_Mutation	SNP	ENST00000351870.3	37	c.505C>T	CCDS5621.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.555609	0.86231	.	.	ENSG00000127989	ENST00000419292;ENST00000351870;ENST00000406735	T;T;T	0.12984	2.63;2.63;2.63	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	T	0.36524	0.0970	M	0.68952	2.095	0.58432	D	0.999998	D	0.89917	1.0	D	0.83275	0.996	T	0.07065	-1.0792	10	0.51188	T	0.08	-0.3393	17.1025	0.86653	0.0:0.0:1.0:0.0	.	169	Q99551	MTERF_HUMAN	W	149;169;149	ENSP00000414116:R149W;ENSP00000248643:R169W;ENSP00000384986:R149W	ENSP00000248643:R169W	R	-	1	2	MTERF	91341539	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.587000	0.74071	2.503000	0.84419	0.591000	0.81541	CGG		0.398	MTERF-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000342896.1		
ORC5	5001	broad.mit.edu	37	7	103835638	103835638	+	Missense_Mutation	SNP	G	G	T			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr7:103835638G>T	ENST00000297431.4	-	5	648	c.506C>A	c.(505-507)aCt>aAt	p.T169N	ORC5_ENST00000447452.2_Missense_Mutation_p.T169N|ORC5_ENST00000485726.1_5'UTR|ORC5_ENST00000545943.1_Missense_Mutation_p.T37N	NM_002553.3	NP_002544.1	O43913	ORC5_HUMAN	origin recognition complex, subunit 5	169					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)	ATP binding (GO:0005524)|DNA replication origin binding (GO:0003688)|nucleotide binding (GO:0000166)			kidney(1)|large_intestine(2)|lung(9)|pancreas(1)|upper_aerodigestive_tract(1)	14						AAAGCATCCAGTATTTGGACG	0.343																																						uc003vcb.3																			0				kidney(1)|large_intestine(2)|lung(9)|pancreas(1)|upper_aerodigestive_tract(1)	14						c.(505-507)aCt>aAt		Homo sapiens origin recognition complex, subunit 5 (ORC5), transcript variant 1, mRNA.							108.0	106.0	107.0					7																	103835638		2203	4300	6503	SO:0001583	missense	5001				cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	cytoplasm|nuclear origin of replication recognition complex|nucleoplasm	ATP binding|DNA replication origin binding|identical protein binding	g.chr7:103835638G>T		CCDS5734.1, CCDS47681.1	7q22.1	2014-06-13	2010-10-12	2010-10-12	ENSG00000164815	ENSG00000164815			8491	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 117"""	602331	"""origin recognition complex, subunit 5 (yeast homolog)-like"", ""origin recognition complex, subunit 5-like (yeast)"", ""origin recognition complex, subunit 5 homolog (yeast)"""	ORC5L		9417919, 9829972	Standard	NM_002553		Approved	Orc5p, ORC5T, PPP1R117	uc003vcb.3	O43913	OTTHUMG00000157275	ENST00000297431.4:c.506C>A	7.37:g.103835638G>T	ENSP00000297431:p.Thr169Asn					ORC5_uc011klp.2_Missense_Mutation_p.T37N|ORC5_uc003vcc.3_Missense_Mutation_p.T169N	p.T169N	NM_002553	NP_002544	O43913	ORC5_HUMAN			4	649	-			169					A4D0P8|O60590|O95268	Missense_Mutation	SNP	ENST00000297431.4	37	c.506C>A	CCDS5734.1	.	.	.	.	.	.	.	.	.	.	G	15.68	2.904456	0.52333	.	.	ENSG00000164815	ENST00000297431;ENST00000545943;ENST00000447452	T;T;T	0.62788	0.0;0.81;0.0	5.72	4.82	0.62117	.	0.044680	0.85682	N	0.000000	T	0.65365	0.2684	L	0.60455	1.87	0.80722	D	1	B;P;B	0.51653	0.006;0.947;0.105	B;P;B	0.50270	0.007;0.636;0.042	T	0.66913	-0.5803	10	0.51188	T	0.08	.	11.0468	0.47863	0.0682:0.0:0.8025:0.1293	.	169;169;169	A4D0P7;O43913-2;O43913	.;.;ORC5_HUMAN	N	169;37;169	ENSP00000297431:T169N;ENSP00000438018:T37N;ENSP00000395747:T169N	ENSP00000297431:T169N	T	-	2	0	ORC5	103622874	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.184000	0.65070	1.378000	0.46305	0.655000	0.94253	ACT		0.343	ORC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348286.1	NM_002553	
STAR	6770	broad.mit.edu	37	8	38005844	38005844	+	Splice_Site	SNP	A	A	G			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr8:38005844A>G	ENST00000276449.4	-	3	626	c.180T>C	c.(178-180)ggT>ggC	p.G60G	RP11-90P5.2_ENST00000520598.1_RNA	NM_000349.2	NP_000340.2	P49675	STAR_HUMAN	steroidogenic acute regulatory protein	60					bile acid biosynthetic process (GO:0006699)|biphenyl metabolic process (GO:0018879)|brain development (GO:0007420)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to alkaloid (GO:0071312)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth hormone stimulus (GO:0071378)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-alpha (GO:0035457)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to luteinizing hormone stimulus (GO:0071373)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cholesterol metabolic process (GO:0008203)|circadian sleep/wake cycle, REM sleep (GO:0042747)|dibenzo-p-dioxin metabolic process (GO:0018894)|diterpenoid metabolic process (GO:0016101)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|glucocorticoid metabolic process (GO:0008211)|insecticide metabolic process (GO:0017143)|intracellular cholesterol transport (GO:0032367)|male gonad development (GO:0008584)|negative regulation of neuron apoptotic process (GO:0043524)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|positive regulation of gene expression (GO:0010628)|positive regulation of neurogenesis (GO:0050769)|progesterone biosynthetic process (GO:0006701)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of steroid biosynthetic process (GO:0050810)|response to activity (GO:0014823)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to fungicide (GO:0060992)|response to herbicide (GO:0009635)|response to hydrogen peroxide (GO:0042542)|response to ionizing radiation (GO:0010212)|response to lead ion (GO:0010288)|response to leptin (GO:0044321)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	cytosol (GO:0005829)|mitochondrial crista (GO:0030061)|mitochondrial intermembrane space (GO:0005758)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	cholesterol binding (GO:0015485)			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)		READ - Rectum adenocarcinoma(644;0.188)		CTAGCCGAGAACCTGGATACA	0.577																																						uc003xkv.1																			0				breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						c.e3-1		Homo sapiens steroidogenic acute regulatory protein (STAR), nuclear gene encoding mitochondrial protein, mRNA.							47.0	42.0	44.0					8																	38005844		2203	4300	6503	SO:0001630	splice_region_variant	6770				C21-steroid hormone biosynthetic process	mitochondrial intermembrane space	cholesterol transporter activity	g.chr8:38005844A>G	BC010550	CCDS6102.1	8p11.2	2011-09-13	2007-05-15		ENSG00000147465	ENSG00000147465		"""StAR-related lipid transfer (START) domain containing"""	11359	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 1"""	600617	"""steroidogenic acute regulator"""			7761400	Standard	NM_000349		Approved	StAR, STARD1	uc003xkv.1	P49675	OTTHUMG00000164058	ENST00000276449.4:c.179-1T>C	8.37:g.38005844A>G							p.G60_splice	NM_000349	NP_000340	P49675	STAR_HUMAN		READ - Rectum adenocarcinoma(644;0.188)	3	443	-	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)	60					Q16396	Silent	SNP	ENST00000276449.4	37	c.179_splice	CCDS6102.1	.	.	.	.	.	.	.	.	.	.	A	11.10	1.540798	0.27563	.	.	ENSG00000147465	ENST00000522050	.	.	.	5.52	-2.5	0.06384	.	.	.	.	.	T	0.52289	0.1725	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48490	-0.9031	4	.	.	.	.	8.4629	0.32938	0.5001:0.1084:0.3914:0.0	.	.	.	.	A	39	.	.	V	-	2	0	STAR	38125001	0.873000	0.30073	0.915000	0.36163	0.756000	0.42949	0.045000	0.14013	-0.326000	0.08564	-0.466000	0.05196	GTT		0.577	STAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376990.2	NM_000349	Silent
GDF6	392255	broad.mit.edu	37	8	97157751	97157751	+	Splice_Site	SNP	G	G	C			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr8:97157751G>C	ENST00000287020.5	-	2	507	c.408C>G	c.(406-408)gaC>gaG	p.D136E		NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN	growth differentiation factor 6	136					activin receptor signaling pathway (GO:0032924)|apoptotic process (GO:0006915)|BMP signaling pathway (GO:0030509)|growth (GO:0040007)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal cell apoptotic process (GO:1990009)	extracellular space (GO:0005615)				breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27	Breast(36;2.67e-05)					GCGAGAGATCGTCTGCGAGAT	0.557																																						uc003yhp.3																			0				breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						c.e2-1		Homo sapiens growth differentiation factor 6 (GDF6), mRNA.							21.0	28.0	25.0					8																	97157751		1646	3189	4835	SO:0001630	splice_region_variant	392255				activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	g.chr8:97157751G>C		CCDS34926.1	8q22.1	2014-01-29			ENSG00000156466	ENSG00000156466			4221	protein-coding gene	gene with protein product		601147	"""segmentation syndrome 1"""	SGM1		10022976, 18425797	Standard	NM_001001557		Approved	BMP13, KFS, KFS1	uc003yhp.3	Q6KF10	OTTHUMG00000164710	ENST00000287020.5:c.407-1C>G	8.37:g.97157751G>C							p.D136_splice	NM_001001557	NP_001001557	Q6KF10	GDF6_HUMAN			2	507	-	Breast(36;2.67e-05)		136					Q6PI58	Missense_Mutation	SNP	ENST00000287020.5	37	c.407_splice	CCDS34926.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.951611	0.73787	.	.	ENSG00000156466	ENST00000287020;ENST00000454970;ENST00000435084	T	0.64260	-0.09	5.27	5.27	0.74061	Transforming growth factor-beta, N-terminal (1);	0.072505	0.53938	U	0.000056	T	0.68550	0.3013	M	0.74467	2.265	0.52501	D	0.999953	D	0.58970	0.984	P	0.54629	0.757	T	0.66236	-0.5974	10	0.09084	T	0.74	.	11.9572	0.52988	0.0806:0.0:0.9194:0.0	.	136	Q6KF10	GDF6_HUMAN	E	136	ENSP00000287020:D136E	ENSP00000287020:D136E	D	-	3	2	GDF6	97226927	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	2.941000	0.49011	2.432000	0.82394	0.557000	0.71058	GAC		0.557	GDF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379862.2	NM_001001557	Missense_Mutation
IFNW1	3467	broad.mit.edu	37	9	21141019	21141019	+	Missense_Mutation	SNP	C	C	G	rs576257737	byFrequency	TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr9:21141019C>G	ENST00000380229.2	-	1	1125	c.551G>C	c.(550-552)aGa>aCa	p.R184T		NM_002177.1	NP_002168.1	P05000	IFNW1_HUMAN	interferon, omega 1	184					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|cell cycle arrest (GO:0007050)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132)			endometrium(1)|kidney(1)|lung(2)|ovary(1)	5				GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		ACTTCTCAGTCTTTCTTGCAT	0.383																																						uc003zol.1																			0				endometrium(1)|kidney(1)|lung(2)|ovary(1)	5						c.(550-552)aGa>aCa		Homo sapiens interferon, omega 1 (IFNW1), mRNA.							123.0	111.0	115.0					9																	21141019		2203	4300	6503	SO:0001583	missense	3467				cell cycle arrest|defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding	g.chr9:21141019C>G		CCDS6496.1	9p22	2010-12-10			ENSG00000177047	ENSG00000177047		"""Interferons"""	5448	protein-coding gene	gene with protein product	"""IFN-omega 1, interferon omega-1"""	147553				1385305	Standard	NM_002177		Approved		uc003zol.1	P05000	OTTHUMG00000019656	ENST00000380229.2:c.551G>C	9.37:g.21141019C>G	ENSP00000369578:p.Arg184Thr						p.R184T	NM_002177	NP_002168	P05000	IFNW1_HUMAN		GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)	0	1126	-			184					Q13168|Q5U802|Q5VWD0|Q7M4P5	Missense_Mutation	SNP	ENST00000380229.2	37	c.551G>C	CCDS6496.1	.	.	.	.	.	.	.	.	.	.	C	14.08	2.429648	0.43122	.	.	ENSG00000177047	ENST00000380229	T	0.03982	3.74	4.66	1.6	0.23607	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.803367	0.11429	N	0.564988	T	0.13200	0.0320	M	0.72353	2.195	0.09310	N	1	D	0.54772	0.968	P	0.55749	0.783	T	0.10382	-1.0632	10	0.87932	D	0	.	7.8854	0.29646	0.0:0.6995:0.0:0.3005	.	184	P05000	IFNW1_HUMAN	T	184	ENSP00000369578:R184T	ENSP00000369578:R184T	R	-	2	0	IFNW1	21131019	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.163000	0.09997	0.581000	0.29539	-0.484000	0.04775	AGA		0.383	IFNW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051885.1	NM_002177	
IFNW1	3467	broad.mit.edu	37	9	21141108	21141108	+	Silent	SNP	C	C	G			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr9:21141108C>G	ENST00000380229.2	-	1	1036	c.462G>C	c.(460-462)ctG>ctC	p.L154L		NM_002177.1	NP_002168.1	P05000	IFNW1_HUMAN	interferon, omega 1	154					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|cell cycle arrest (GO:0007050)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132)			endometrium(1)|kidney(1)|lung(2)|ovary(1)	5				GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		TCTTCTCTTTCAGGTAGACAC	0.473																																						uc003zol.1																			0				endometrium(1)|kidney(1)|lung(2)|ovary(1)	5						c.(460-462)ctG>ctC		Homo sapiens interferon, omega 1 (IFNW1), mRNA.							98.0	93.0	94.0					9																	21141108		2203	4300	6503	SO:0001819	synonymous_variant	3467				cell cycle arrest|defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding	g.chr9:21141108C>G		CCDS6496.1	9p22	2010-12-10			ENSG00000177047	ENSG00000177047		"""Interferons"""	5448	protein-coding gene	gene with protein product	"""IFN-omega 1, interferon omega-1"""	147553				1385305	Standard	NM_002177		Approved		uc003zol.1	P05000	OTTHUMG00000019656	ENST00000380229.2:c.462G>C	9.37:g.21141108C>G							p.L154L	NM_002177	NP_002168	P05000	IFNW1_HUMAN		GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)	0	1037	-			154					Q13168|Q5U802|Q5VWD0|Q7M4P5	Silent	SNP	ENST00000380229.2	37	c.462G>C	CCDS6496.1																																																																																				0.473	IFNW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051885.1	NM_002177	
TMEM2	23670	broad.mit.edu	37	9	74324239	74324239	+	Missense_Mutation	SNP	C	C	T	rs147272925	byFrequency	TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr9:74324239C>T	ENST00000377044.4	-	17	3460	c.2921G>A	c.(2920-2922)cGc>cAc	p.R974H	TMEM2_ENST00000377066.5_Missense_Mutation_p.R911H	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	974					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		GCTTGGATGGCGGATCAGGTA	0.448													C|||	4	0.000798722	0.003	0.0	5008	,	,		21899	0.0		0.0	False		,,,				2504	0.0					uc011lsa.1																			0				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56						c.(2920-2922)cGc>cAc		Homo sapiens transmembrane protein 2 (TMEM2), transcript variant 1, mRNA.		C	HIS/ARG,HIS/ARG	22,4384	29.9+/-59.1	0,22,2181	253.0	213.0	227.0		2732,2921	5.7	1.0	9	dbSNP_134	227	0,8600		0,0,4300	yes	missense,missense	TMEM2	NM_001135820.1,NM_013390.2	29,29	0,22,6481	TT,TC,CC		0.0,0.4993,0.1692	benign,benign	911/1321,974/1384	74324239	22,12984	2203	4300	6503	SO:0001583	missense	23670					integral to membrane		g.chr9:74324239C>T		CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048			11869	protein-coding gene	gene with protein product		605835					Standard	NM_013390		Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.2921G>A	9.37:g.74324239C>T	ENSP00000366243:p.Arg974His					TMEM2_uc010mos.2_Missense_Mutation_p.R911H|TMEM2_uc011lsb.1_Non-coding_Transcript	p.R974H	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)	16	3461	-		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)	974					A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Missense_Mutation	SNP	ENST00000377044.4	37	c.2921G>A	CCDS6638.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	23.7	4.442794	0.83993	0.004993	0.0	ENSG00000135048	ENST00000377044;ENST00000377066;ENST00000377055;ENST00000377043	T;T;T;T	0.74842	-0.88;-0.81;1.06;0.82	5.67	5.67	0.87782	.	0.108034	0.64402	D	0.000006	D	0.85673	0.5751	M	0.80982	2.52	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.70487	0.932;0.969	D	0.87120	0.2190	10	0.87932	D	0	.	13.4634	0.61239	0.0:0.919:0.0:0.081	.	974;911	Q9UHN6;Q9UHN6-2	TMEM2_HUMAN;.	H	974;911;3;75	ENSP00000366243:R974H;ENSP00000366266:R911H;ENSP00000366254:R3H;ENSP00000366242:R75H	ENSP00000366242:R75H	R	-	2	0	TMEM2	73514059	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.393000	0.44442	2.683000	0.91414	0.557000	0.71058	CGC		0.448	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052618.2	NM_013390	
ZNF618	114991	broad.mit.edu	37	9	116811982	116811982	+	Silent	SNP	G	G	T	rs200450990		TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr9:116811982G>T	ENST00000374126.5	+	15	2499	c.2400G>T	c.(2398-2400)ccG>ccT	p.P800P	ZNF618_ENST00000288466.7_Silent_p.P707P|ZNF618_ENST00000470105.1_3'UTR			Q5T7W0	ZN618_HUMAN	zinc finger protein 618	800					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						AGGTGCACCCGGCCCACAAGG	0.612																																						uc004bid.3																			0				breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						c.(2398-2400)ccG>ccT		Homo sapiens zinc finger protein 618 (ZNF618), mRNA.							45.0	51.0	49.0					9																	116811982		2085	4211	6296	SO:0001819	synonymous_variant	114991				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:116811982G>T	BC012922	CCDS48008.1	9q33.1	2010-04-21			ENSG00000157657	ENSG00000157657		"""Zinc fingers, C2H2-type"""	29416	protein-coding gene	gene with protein product	"""neural precursor cell expressed, developmentally down-regulated 10"""					11853319	Standard	NM_133374		Approved	KIAA1952, NEDD10	uc004bic.3	Q5T7W0	OTTHUMG00000020532	ENST00000374126.5:c.2400G>T	9.37:g.116811982G>T						ZNF618_uc004bic.3_Silent_p.P707P|ZNF618_uc011lxi.2_Silent_p.P767P|ZNF618_uc011lxj.2_Silent_p.P768P|ZNF618_uc010mvb.3_Silent_p.P390P	p.P800P	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN			14	2499	+			800					B9EG82|Q4G0X6|Q5T7W1|Q6ZT53|Q7Z6B9|Q8TF49|Q96E49	Silent	SNP	ENST00000374126.5	37	c.2400G>T																																																																																					0.612	ZNF618-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000053749.1	XM_054983	
DEC1	50514	broad.mit.edu	37	9	118162691	118162691	+	Missense_Mutation	SNP	C	C	G			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr9:118162691C>G	ENST00000374016.1	+	6	586	c.67C>G	c.(67-69)Ctt>Gtt	p.L23V		NM_017418.2	NP_059114.1	Q9P2X7	DEC1_HUMAN	deleted in esophageal cancer 1	23					negative regulation of cell proliferation (GO:0008285)					kidney(1)|large_intestine(1)|ovary(1)	3						tgagggccttcttgccgtgtt	0.453																																						uc004bjk.1																			0				kidney(1)|large_intestine(1)|ovary(1)	3						c.(67-69)Ctt>Gtt		Homo sapiens deleted in esophageal cancer 1 (DEC1), mRNA.							151.0	137.0	142.0					9																	118162691		2203	4300	6503	SO:0001583	missense	50514				negative regulation of cell proliferation			g.chr9:118162691C>G	AB022761	CCDS6812.1	9q32	2008-02-05			ENSG00000173077	ENSG00000173077			23658	protein-coding gene	gene with protein product		604767				8603412, 10612805	Standard	NM_017418		Approved	CTS9	uc004bjk.1	Q9P2X7	OTTHUMG00000020549	ENST00000374016.1:c.67C>G	9.37:g.118162691C>G	ENSP00000363128:p.Leu23Val					DEC1_uc004bjl.1_Intron	p.L23V	NM_017418	NP_059114	Q9P2X7	DEC1_HUMAN			5	586	+			23						Missense_Mutation	SNP	ENST00000374016.1	37	c.67C>G	CCDS6812.1	.	.	.	.	.	.	.	.	.	.	C	6.295	0.422622	0.11928	.	.	ENSG00000173077	ENST00000374016	T	0.58358	0.34	1.33	1.33	0.21861	.	.	.	.	.	T	0.53449	0.1797	.	.	.	0.09310	N	1	D	0.64830	0.994	P	0.52217	0.693	T	0.43442	-0.9391	8	0.87932	D	0	.	6.0617	0.19842	0.0:1.0:0.0:0.0	.	23	Q9P2X7	DEC1_HUMAN	V	23	ENSP00000363128:L23V	ENSP00000363128:L23V	L	+	1	0	DEC1	117202512	0.002000	0.14202	0.004000	0.12327	0.013000	0.08279	0.776000	0.26704	1.045000	0.40225	0.655000	0.94253	CTT		0.453	DEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053791.1	NM_017418	
ASTN2	23245	broad.mit.edu	37	9	119204775	119204775	+	Silent	SNP	G	G	T			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr9:119204775G>T	ENST00000313400.4	-	21	3655	c.3555C>A	c.(3553-3555)acC>acA	p.T1185T	ASTN2_ENST00000361477.3_Silent_p.T237T|ASTN2_ENST00000341734.4_Silent_p.T237T|ASTN2_ENST00000373996.3_Silent_p.T1181T|ASTN2_ENST00000288520.5_Silent_p.T286T|ASTN2_ENST00000361209.2_Silent_p.T1134T			O75129	ASTN2_HUMAN	astrotactin 2	1185	Fibronectin type-III.				negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CCGTCCTCAGGGTCACCGTGC	0.512																																						uc004bjt.2																			0		p.T1134I(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						c.(3400-3402)acC>acA		Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA.							207.0	172.0	184.0					9																	119204775		2203	4300	6503	SO:0001819	synonymous_variant	23245					integral to membrane		g.chr9:119204775G>T	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.3555C>A	9.37:g.119204775G>T						ASTN2_uc022bml.1_Silent_p.T830T|ASTN2_uc022bmm.1_Silent_p.T834T|ASTN2_uc004bjp.2_Silent_p.T286T|ASTN2_uc011lxr.2_Silent_p.T237T|ASTN2_uc011lxs.2_Silent_p.T237T|ASTN2_uc011lxt.2_Silent_p.T237T|ASTN2_uc004bjq.2_Silent_p.T237T	p.T1134T	NM_014010	NP_054729	O75129	ASTN2_HUMAN			19	3503	-			1185			Fibronectin type-III.		A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Silent	SNP	ENST00000313400.4	37	c.3402C>A																																																																																					0.512	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010	
GLT6D1	360203	broad.mit.edu	37	9	138517954	138517954	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr9:138517954C>T	ENST00000371763.1	-	4	471	c.218G>A	c.(217-219)cGg>cAg	p.R73Q		NM_182974.2	NP_892019.2	Q7Z4J2	GL6D1_HUMAN	glycosyltransferase 6 domain containing 1	73					carbohydrate metabolic process (GO:0005975)	integral component of membrane (GO:0016021)	transferase activity, transferring hexosyl groups (GO:0016758)			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		AGTGATATTCCGCCTTCTGTA	0.498																																						uc010nbd.1																			0				endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15						c.(217-219)cGg>cAg		Homo sapiens glycosyltransferase 6 domain containing 1 (GLT6D1), mRNA.							80.0	84.0	83.0					9																	138517954		1901	4104	6005	SO:0001583	missense	360203				carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups	g.chr9:138517954C>T	AY336054	CCDS43900.1	9q34.3	2013-02-22	2004-09-16	2004-09-17	ENSG00000204007	ENSG00000204007		"""Glycosyltransferase family 6 domain containing"""	23671	protein-coding gene	gene with protein product		613699	"""galactosyltransferase family 6 domain containing 1"""	GLTDC1			Standard	NM_182974		Approved		uc010nbd.1	Q7Z4J2	OTTHUMG00000020911	ENST00000371763.1:c.218G>A	9.37:g.138517954C>T	ENSP00000360829:p.Arg73Gln						p.R73Q	NM_182974	NP_892019	Q7Z4J2	GL6D1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)	3	472	-		Myeloproliferative disorder(178;0.0821)	73						Missense_Mutation	SNP	ENST00000371763.1	37	c.218G>A	CCDS43900.1	.	.	.	.	.	.	.	.	.	.	c	0.006	-2.086470	0.00367	.	.	ENSG00000204007	ENST00000371763	T	0.01165	5.24	4.18	-8.36	0.00980	.	1.408090	0.04486	N	0.378608	T	0.00552	0.0018	N	0.02213	-0.635	0.09310	N	1	B	0.21071	0.051	B	0.17433	0.018	T	0.43294	-0.9400	10	0.02654	T	1	-9.1253	9.0338	0.36275	0.3759:0.0885:0.0:0.5357	.	73	Q7Z4J2	GL6D1_HUMAN	Q	73	ENSP00000360829:R73Q	ENSP00000360829:R73Q	R	-	2	0	GLT6D1	137657775	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.682000	0.01935	-6.889000	0.00002	-2.085000	0.00377	CGG		0.498	GLT6D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055005.2	NM_182974	
MAGEB16	139604	broad.mit.edu	37	X	35820799	35820799	+	Silent	SNP	A	A	G			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chrX:35820799A>G	ENST00000399989.1	+	2	765	c.486A>G	c.(484-486)ctA>ctG	p.L162L	MAGEB16_ENST00000399987.1_Silent_p.L162L|MAGEB16_ENST00000399988.1_Silent_p.L162L|MAGEB16_ENST00000399985.1_Silent_p.L162L|MAGEB16_ENST00000399992.1_Silent_p.L194L	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	162	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						CTGAGCACCTAGAGATGATAT	0.468																																						uc010ngt.1																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(484-486)ctA>ctG		Homo sapiens melanoma antigen family B, 16 (MAGEB16), mRNA.							86.0	84.0	85.0					X																	35820799		2073	4191	6264	SO:0001819	synonymous_variant	139604							g.chrX:35820799A>G		CCDS43927.1	Xp21.1	2010-05-26	2005-11-07		ENSG00000189023	ENSG00000189023			21188	protein-coding gene	gene with protein product		300762	"""melanoma antigen family B, 16 (pseudogene)"""			11454705	Standard	NM_001099921		Approved		uc010ngt.1	A2A368	OTTHUMG00000021348	ENST00000399989.1:c.486A>G	X.37:g.35820799A>G						MAGEB16_uc022bus.1_Silent_p.L162L	p.L162L	NM_001099921	NP_001093391	A2A368	MAGBG_HUMAN			1	765	+			162			MAGE.		A8MU30	Silent	SNP	ENST00000399989.1	37	c.486A>G	CCDS43927.1																																																																																				0.468	MAGEB16-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251034.1		
WDR13	64743	broad.mit.edu	37	X	48458765	48458765	+	Silent	SNP	C	C	T			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chrX:48458765C>T	ENST00000218056.5	+	5	1087	c.582C>T	c.(580-582)gaC>gaT	p.D194D	WDR13_ENST00000376729.5_Silent_p.D194D	NM_001166426.1|NM_017883.4	NP_001159898.1|NP_060353	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13	194						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|large_intestine(4)|lung(4)|ovary(2)	11						GCTCACTCGACGGCAGCATCT	0.632																																						uc004dkj.2																			0				endometrium(1)|large_intestine(4)|lung(4)|ovary(2)	11						c.(580-582)gaC>gaT		Homo sapiens WD repeat domain 13 (WDR13), transcript variant 1, mRNA.							88.0	60.0	69.0					X																	48458765		2203	4300	6503	SO:0001819	synonymous_variant	64743					cytoplasm|nucleus		g.chrX:48458765C>T	AF329819	CCDS14302.1	Xp11.23	2013-01-09			ENSG00000101940	ENSG00000101940		"""WD repeat domain containing"""	14352	protein-coding gene	gene with protein product		300512					Standard	NM_017883		Approved		uc004dkj.2	Q9H1Z4	OTTHUMG00000024119	ENST00000218056.5:c.582C>T	X.37:g.48458765C>T						WDR13_uc004dkk.2_Silent_p.D102D|WDR13_uc004dkl.4_Silent_p.D102D|WDR13_uc011mme.2_Silent_p.D72D	p.D194D	NM_017883	NP_001159898	Q9H1Z4	WDR13_HUMAN			4	1087	+			194					Q06DW8|Q06DX0|Q06DX1|Q9BUL7|Q9NWW4	Silent	SNP	ENST00000218056.5	37	c.582C>T	CCDS14302.1																																																																																				0.632	WDR13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060743.2		
ATRX	546	broad.mit.edu	37	X	76875916	76875916	+	Nonsense_Mutation	SNP	G	G	C			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chrX:76875916G>C	ENST00000373344.5	-	20	5433	c.5219C>G	c.(5218-5220)tCa>tGa	p.S1740*	ATRX_ENST00000395603.3_Nonsense_Mutation_p.S1702*|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1740	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.S1740*(2)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						CCTCCTCCTTGATCGTATAGA	0.333			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															uc004ecp.4				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		3	Substitution - Nonsense(2)|Unknown(1)	p.S1740*(3)|p.R1739*(1)|p.?(1)	lung(2)|bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(5218-5220)tCa>tGa		Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	Phosphatidylserine(DB00144)						81.0	68.0	72.0					X																	76875916		2202	4294	6496	SO:0001587	stop_gained	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76875916G>C	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.5219C>G	X.37:g.76875916G>C	ENSP00000362441:p.Ser1740*					ATRX_uc004ecq.4_Nonsense_Mutation_p.S1702*|ATRX_uc004eco.4_Nonsense_Mutation_p.S1525*	p.S1740*	NM_000489	NP_000480	P46100	ATRX_HUMAN			19	5451	-			1740			Helicase ATP-binding.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Nonsense_Mutation	SNP	ENST00000373344.5	37	c.5219C>G	CCDS14434.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.761810|5.761810	0.96906|0.96906	.|.	.|.	ENSG00000085224|ENSG00000085224	ENST00000400866|ENST00000373344;ENST00000395603	.|.	.|.	.|.	4.57|4.57	4.57|4.57	0.56435|0.56435	.|.	.|0.084915	.|0.49916	.|D	.|0.000125	T|.	0.76263|.	0.3963|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.80656|.	-0.1285|.	4|.	.|0.87932	.|D	.|0	-4.159|-4.159	16.6125|16.6125	0.84892|0.84892	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	E|X	29|1740;1702	.|.	.|ENSP00000362441:S1740X	Q|S	-|-	1|2	0|0	ATRX|ATRX	76762572|76762572	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.439000|9.439000	0.97543|0.97543	1.833000|1.833000	0.53350|0.53350	0.600000|0.600000	0.82982|0.82982	CAA|TCA		0.333	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489	
