#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
IKZF4	64375	broad.mit.edu	37	12	56427056	56427056	+	Silent	SNP	G	G	A			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr12:56427056G>A	ENST00000262032.5	+	11	1315	c.948G>A	c.(946-948)ctG>ctA	p.L316L	IKZF4_ENST00000547791.1_Silent_p.L271L|IKZF4_ENST00000431367.2_Silent_p.L214L|RP11-603J24.4_ENST00000551846.1_RNA|IKZF4_ENST00000547167.1_Silent_p.L316L			Q9H2S9	IKZF4_HUMAN	IKAROS family zinc finger 4 (Eos)	316					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			TCGATCGTCTGGCCAATAGCC	0.502																																						ENST00000262032.5																			0				NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8						c.(946-948)ctG>ctA		IKAROS family zinc finger 4 (Eos)							126.0	122.0	123.0					12																	56427056		2001	4171	6172	SO:0001819	synonymous_variant	64375				negative regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:56427056G>A	AF230809	CCDS44917.1	12q13	2013-01-08	2006-08-25	2006-08-25		ENSG00000123411		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13179	protein-coding gene	gene with protein product		606239	"""zinc finger protein, subfamily 1A, 4 (Eos)"""	ZNFN1A4		10978333	Standard	NM_022465		Approved	Eos	uc001sjc.1	Q9H2S9		ENST00000262032.5:c.948G>A	12.37:g.56427056G>A						IKZF4_ENST00000547167.1_Silent_p.L316L|RP11-603J24.4_ENST00000551846.1_RNA|IKZF4_ENST00000431367.2_Silent_p.L214L|IKZF4_ENST00000547791.1_Silent_p.L271L	p.L316L			Q9H2S9	IKZF4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)		11	1315	+			316					Q96JP3	Silent	SNP	ENST00000262032.5	37	c.948G>A	CCDS44917.1																																																																																				0.502	IKZF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407590.1	NM_022465		34	55	0	0	0	1	0	34	55				
POLN	353497	broad.mit.edu	37	4	2209864	2209864	+	Silent	SNP	C	C	T			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr4:2209864C>T	ENST00000511885.2	-	5	917	c.564G>A	c.(562-564)ggG>ggA	p.G188G	POLN_ENST00000382865.1_Silent_p.G188G|POLN_ENST00000515357.1_5'UTR			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	188					double-strand break repair via homologous recombination (GO:0000724)|interstrand cross-link repair (GO:0036297)|translesion synthesis (GO:0019985)	nucleus (GO:0005634)	cyclin binding (GO:0030332)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			CTCCTGAGTTCCCAGAATTTA	0.378								DNA polymerases (catalytic subunits)																														ENST00000511885.2																			0				kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28						c.(562-564)ggG>ggA	DNA polymerases (catalytic subunits)	polymerase (DNA directed) nu							116.0	115.0	115.0					4																	2209864		2203	4300	6503	SO:0001819	synonymous_variant	353497				DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity	g.chr4:2209864C>T	AF044578	CCDS3360.1	4p16.3	2012-05-18			ENSG00000130997	ENSG00000130997		"""DNA polymerases"""	18870	protein-coding gene	gene with protein product		610887				12794064	Standard	NM_181808		Approved		uc003ger.2	Q7Z5Q5	OTTHUMG00000090081	ENST00000511885.2:c.564G>A	4.37:g.2209864C>T						POLN_ENST00000382865.1_Silent_p.G188G|POLN_ENST00000515357.1_5'UTR	p.G188G			Q7Z5Q5	DPOLN_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0955)		5	917	-			188					A2A336|B4E158|Q4TTW4|Q6ZNF4	Silent	SNP	ENST00000511885.2	37	c.564G>A	CCDS3360.1																																																																																				0.378	POLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000205684.2	NM_181808		10	37	0	0	0	1	0	10	37				
TNRC6A	27327	broad.mit.edu	37	16	24802570	24802570	+	Silent	SNP	C	C	A			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr16:24802570C>A	ENST00000395799.3	+	6	2736	c.2607C>A	c.(2605-2607)gcC>gcA	p.A869A	TNRC6A_ENST00000315183.7_Silent_p.A869A	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	869	Interaction with argonaute family proteins.|Sufficient for interaction with AGO1 and AGO4.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		GGGGTGAGGCCAATAAGAAAT	0.463																																						ENST00000395799.3																			0				breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(2605-2607)gcC>gcA		trinucleotide repeat containing 6A							89.0	84.0	85.0					16																	24802570		2197	4300	6497	SO:0001819	synonymous_variant	27327				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr16:24802570C>A	U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.2607C>A	16.37:g.24802570C>A						TNRC6A_ENST00000315183.7_Silent_p.A869A	p.A869A	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN		GBM - Glioblastoma multiforme(48;0.0394)	6	2736	+			869			Sufficient for interaction with EIF2C1 and EIF2C4.		C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Silent	SNP	ENST00000395799.3	37	c.2607C>A	CCDS10624.2																																																																																				0.463	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847		18	26	1	0	1.67942e-08	1	1.75663e-08	18	26				
AGAP10	728127	broad.mit.edu	37	10	47207813	47207813	+	Splice_Site	SNP	T	T	C	rs202014361	byFrequency	TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr10:47207813T>C	ENST00000452145.2	-	4	506	c.395A>G	c.(394-396)cAt>cGt	p.H132R	RP11-144G6.12_ENST00000605970.1_RNA|AGAP10_ENST00000355232.3_Splice_Site_p.H157R|AGAP10_ENST00000413193.2_Splice_Site_p.H228R			Q5T2P9	AGA10_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 10	132					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.H228R(20)		endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	12						TTTACTTACATGGTTTGTACA	0.294																																						ENST00000355232.3																			20	Substitution - Missense(20)	p.H228R(20)	endometrium(10)|prostate(4)|kidney(4)|urinary_tract(2)	endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	12						c.e5+1		ArfGAP with GTPase domain, ankyrin repeat and PH domain 10																																				SO:0001630	splice_region_variant	728127							g.chr10:47207813T>C	BC075841		10q11.22	2013-01-11	2008-09-22	2008-09-22	ENSG00000204172	ENSG00000204172		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23462	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 7"""	CTGLF7			Standard	XM_006709937		Approved	bA144G6.2		Q5T2P9	OTTHUMG00000018115	ENST00000452145.2:c.396+1A>G	10.37:g.47207813T>C						AGAP10_ENST00000413193.2_Splice_Site_p.H228_splice|AGAP10_ENST00000452145.2_Splice_Site_p.H132_splice|RP11-144G6.12_ENST00000605970.1_RNA	p.H157_splice							5	3482	-									Splice_Site	SNP	ENST00000452145.2	37	c.471_splice		.	.	.	.	.	.	.	.	.	.	t	0.012	-1.675265	0.00751	.	.	ENSG00000204172	ENST00000452145;ENST00000413193;ENST00000355232	D;T;D	0.87966	-2.32;2.68;-2.32	1.4	1.4	0.22301	.	0.264128	0.34555	N	0.003879	T	0.72486	0.3466	.	.	.	0.20764	N	0.999856	B	0.22003	0.063	B	0.19666	0.026	T	0.55471	-0.8136	9	0.16896	T	0.51	.	6.9024	0.24291	0.0:0.0:0.0:1.0	.	132	Q5T2P9	AGA10_HUMAN	R	132;228;157	ENSP00000392206:H132R;ENSP00000407436:H228R;ENSP00000347372:H157R	ENSP00000347372:H157R	H	-	2	0	AGAP10	46627819	1.000000	0.71417	1.000000	0.80357	0.105000	0.19272	3.704000	0.54815	0.898000	0.36418	0.163000	0.16589	CAT		0.294	AGAP10-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000047845.2	XM_001714786.2	Missense_Mutation	3	26	0	0	0	1	0	3	26				
ZNF718	255403	broad.mit.edu	37	4	155275	155275	+	lincRNA	SNP	C	C	G			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr4:155275C>G	ENST00000510175.1	+	0	710							Q3SXZ3	ZN718_HUMAN	zinc finger protein 718						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		TTTAACCAATCCTCAACCCTT	0.353																																						ENST00000510175.1																			0													zinc finger protein 718							41.0	46.0	44.0					4																	155275		2091	4238	6329			255403				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:155275C>G	AK096662	CCDS75078.1, CCDS75079.1	4p16.3	2011-05-24			ENSG00000250312	ENSG00000250312		"""Zinc fingers, C2H2-type"""	26889	protein-coding gene	gene with protein product							Standard	XM_005278364		Approved	FLJ90036	uc003fzt.4	Q3SXZ3	OTTHUMG00000159873		4.37:g.155275C>G										Q3SXZ3	ZN718_HUMAN		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)	0	710	+		all_cancers(4;0.0738)|all_epithelial(65;0.139)						Q3SXZ4|Q3SXZ5	RNA	SNP	ENST00000510175.1	37																																																																																						0.353	ZNF718-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000357865.3	NM_001039127		12	30	0	0	0	1	0	12	30				
FAT1	2195	broad.mit.edu	37	4	187538223	187538223	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr4:187538223G>C	ENST00000441802.2	-	11	9220	c.9011C>G	c.(9010-9012)tCa>tGa	p.S3004*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3004	Cadherin 27. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CGCTTTTGATGAGAAGGTGCC	0.393										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(9010-9012)tCa>tGa		FAT atypical cadherin 1							220.0	197.0	205.0					4																	187538223		1916	4124	6040	SO:0001587	stop_gained	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187538223G>C	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.9011C>G	4.37:g.187538223G>C	ENSP00000406229:p.Ser3004*	HNSCC(5;0.00058)					p.S3004*	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			11	9220	-			3004			Cadherin 27.			Nonsense_Mutation	SNP	ENST00000441802.2	37	c.9011C>G	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	50	16.927506	0.99875	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	4.6	4.6	0.57074	.	0.122950	0.56097	D	0.000034	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	.	17.9625	0.89090	0.0:0.0:1.0:0.0	.	.	.	.	X	3004;3006	.	ENSP00000260147:S3006X	S	-	2	0	FAT1	187775217	1.000000	0.71417	0.975000	0.42487	0.510000	0.34073	5.677000	0.68142	2.550000	0.86006	0.563000	0.77884	TCA		0.393	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		19	42	0	0	0	1	0	19	42				
MYO9A	4649	broad.mit.edu	37	15	72190746	72190746	+	Silent	SNP	T	T	C			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr15:72190746T>C	ENST00000356056.5	-	25	4570	c.4098A>G	c.(4096-4098)aaA>aaG	p.K1366K	MYO9A_ENST00000566885.1_Silent_p.K986K|MYO9A_ENST00000424560.1_Silent_p.K1366K|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_Silent_p.K1347K|MYO9A_ENST00000564571.1_Silent_p.K1366K	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1366	Tail.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GTGAATCAAATTTTGGACTGC	0.443																																						ENST00000356056.5																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(4096-4098)aaA>aaG		myosin IXA							117.0	118.0	118.0					15																	72190746		2199	4297	6496	SO:0001819	synonymous_variant	4649				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	g.chr15:72190746T>C	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.4098A>G	15.37:g.72190746T>C						MYO9A_ENST00000444904.1_Silent_p.K1347K|MYO9A_ENST00000564571.1_Silent_p.K1366K|MYO9A_ENST00000566885.1_Silent_p.K986K|MYO9A_ENST00000424560.1_Silent_p.K1366K|MYO9A_ENST00000563542.1_5'UTR	p.K1366K	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN			25	4570	-			1366			Tail.		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Silent	SNP	ENST00000356056.5	37	c.4098A>G	CCDS10239.1																																																																																				0.443	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		32	33	0	0	0	1	0	32	33				
LILRB5	10990	broad.mit.edu	37	19	54758896	54758896	+	Silent	SNP	C	C	G			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr19:54758896C>G	ENST00000316219.5	-	6	1064	c.957G>C	c.(955-957)ctG>ctC	p.L319L	LILRB5_ENST00000450632.1_Silent_p.L310L|LILRB5_ENST00000345866.6_Silent_p.L219L|LILRB5_ENST00000449561.2_Silent_p.L319L	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	319					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGTCAGGGATCAGTCCTGGAG	0.597																																						ENST00000450632.1																			0				NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(928-930)ctG>ctC		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5							21.0	22.0	22.0					19																	54758896		2203	4300	6503	SO:0001819	synonymous_variant	10990				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	g.chr19:54758896C>G	AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.957G>C	19.37:g.54758896C>G						LILRB5_ENST00000449561.2_Silent_p.L319L|LILRB5_ENST00000316219.5_Silent_p.L319L|LILRB5_ENST00000345866.6_Silent_p.L219L	p.L310L			O75023	LIRB5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	6	1007	-	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)		319			Ig-like C2-type 3.		Q8N760	Silent	SNP	ENST00000316219.5	37	c.930G>C	CCDS12885.1																																																																																				0.597	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			3	27	0	0	0	1	0	3	27				
NPAS4	266743	broad.mit.edu	37	11	66192413	66192413	+	Silent	SNP	G	G	C			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr11:66192413G>C	ENST00000311034.2	+	7	2228	c.2052G>C	c.(2050-2052)ctG>ctC	p.L684L		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	684					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						TGCTCAGCCTGGACCTGAAAC	0.602																																						ENST00000311034.2																			0				breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						c.(2050-2052)ctG>ctC		neuronal PAS domain protein 4							82.0	89.0	87.0					11																	66192413		2200	4295	6495	SO:0001819	synonymous_variant	266743				transcription, DNA-dependent		DNA binding|signal transducer activity	g.chr11:66192413G>C	AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"""Basic helix-loop-helix proteins"""	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.2052G>C	11.37:g.66192413G>C							p.L684L	NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN			7	2228	+			684					B7ZL81|Q8N8S5|Q8N9Q9	Silent	SNP	ENST00000311034.2	37	c.2052G>C	CCDS8138.1																																																																																				0.602	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392634.1	NM_178864		47	106	0	0	0	1	0	47	106				
TACC2	10579	broad.mit.edu	37	10	123987498	123987498	+	Missense_Mutation	SNP	G	G	A	rs114249776	byFrequency	TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr10:123987498G>A	ENST00000369005.1	+	14	8211	c.7871G>A	c.(7870-7872)gGc>gAc	p.G2624D	TACC2_ENST00000369004.3_Missense_Mutation_p.G714D|TACC2_ENST00000453444.2_Missense_Mutation_p.G2628D|TACC2_ENST00000334433.3_Missense_Mutation_p.G2624D|TACC2_ENST00000513429.1_Missense_Mutation_p.G770D|TACC2_ENST00000260733.3_Missense_Mutation_p.G702D|TACC2_ENST00000369001.1_Missense_Mutation_p.G328D|TACC2_ENST00000358010.1_Missense_Mutation_p.G770D|TACC2_ENST00000360561.3_Missense_Mutation_p.G702D|TACC2_ENST00000515603.1_Missense_Mutation_p.G2579D|TACC2_ENST00000368999.1_Missense_Mutation_p.G714D|TACC2_ENST00000369000.1_Missense_Mutation_p.G324D|TACC2_ENST00000515273.1_Missense_Mutation_p.G2628D	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2624					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				ATGGGCTTGGGCACCCCTTCA	0.572													G|||	3	0.000599042	0.0023	0.0	5008	,	,		18322	0.0		0.0	False		,,,				2504	0.0					ENST00000369005.1																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(7870-7872)gGc>gAc		transforming, acidic coiled-coil containing protein 2		G	ASP/GLY,ASP/GLY,ASP/GLY,ASP/GLY	6,4400	11.4+/-27.6	0,6,2197	77.0	81.0	80.0		2105,2105,2309,7871	5.2	1.0	10	dbSNP_132	80	0,8600		0,0,4300	yes	missense,missense,missense,missense	TACC2	NM_006997.2,NM_206860.1,NM_206861.1,NM_206862.2	94,94,94,94	0,6,6497	AA,AG,GG		0.0,0.1362,0.0461	probably-damaging,probably-damaging,probably-damaging,probably-damaging	702/1027,702/997,770/1095,2624/2949	123987498	6,13000	2203	4300	6503	SO:0001583	missense	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123987498G>A	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.7871G>A	10.37:g.123987498G>A	ENSP00000358001:p.Gly2624Asp					TACC2_ENST00000358010.1_Missense_Mutation_p.G770D|TACC2_ENST00000453444.2_Missense_Mutation_p.G2628D|TACC2_ENST00000513429.1_Missense_Mutation_p.G770D|TACC2_ENST00000369001.1_Missense_Mutation_p.G328D|TACC2_ENST00000515603.1_Missense_Mutation_p.G2579D|TACC2_ENST00000515273.1_Missense_Mutation_p.G2628D|TACC2_ENST00000369000.1_Missense_Mutation_p.G324D|TACC2_ENST00000360561.3_Missense_Mutation_p.G702D|TACC2_ENST00000334433.3_Missense_Mutation_p.G2624D|TACC2_ENST00000260733.3_Missense_Mutation_p.G702D|TACC2_ENST00000369004.3_Missense_Mutation_p.G714D|TACC2_ENST00000368999.1_Missense_Mutation_p.G714D	p.G2624D	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			14	8211	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	2624					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	c.7871G>A	CCDS7626.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	15.95	2.983285	0.53827	0.001362	0.0	ENSG00000138162	ENST00000369005;ENST00000513429;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000358010;ENST00000453444;ENST00000340076;ENST00000369001;ENST00000369000;ENST00000360561;ENST00000368999;ENST00000369004;ENST00000260733;ENST00000496913	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.18657	3.71;3.4;4.04;4.01;3.71;3.4;4.04;2.2;2.2;3.23;3.27;3.22;3.27;2.4	5.25	5.25	0.73442	.	0.000000	0.37623	N	0.002017	T	0.33235	0.0856	L	0.29908	0.895	0.53688	D	0.999977	D;D;D;D;D;D;D;D;D	0.89917	0.999;1.0;0.999;0.999;0.998;0.999;0.982;0.999;1.0	D;D;D;D;D;D;P;D;D	0.97110	0.986;1.0;0.986;0.986;0.966;0.973;0.881;0.973;0.995	T	0.02553	-1.1142	10	0.15066	T	0.55	-21.8403	17.3979	0.87451	0.0:0.0:1.0:0.0	.	2628;714;2579;2628;702;702;324;770;2624	E9PBC6;D6RAA5;E7EMZ9;B7ZMJ9;O95359-6;O95359-1;O95359-2;O95359-5;O95359	.;.;.;.;.;.;.;.;TACC2_HUMAN	D	2624;770;2628;2579;2624;770;2628;2614;328;324;702;714;714;702;359	ENSP00000358001:G2624D;ENSP00000425062:G770D;ENSP00000424467:G2628D;ENSP00000427618:G2579D;ENSP00000334280:G2624D;ENSP00000350701:G770D;ENSP00000395048:G2628D;ENSP00000357997:G328D;ENSP00000357996:G324D;ENSP00000353763:G702D;ENSP00000357995:G714D;ENSP00000422815:G714D;ENSP00000260733:G702D;ENSP00000422725:G359D	ENSP00000260733:G702D	G	+	2	0	TACC2	123977488	1.000000	0.71417	0.974000	0.42286	0.024000	0.10985	4.505000	0.60421	2.618000	0.88619	0.655000	0.94253	GGC		0.572	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			37	57	0	0	0	1	0	37	57				
AR	367	broad.mit.edu	37	X	66765955	66765955	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chrX:66765955G>C	ENST00000374690.3	+	1	1491	c.967G>C	c.(967-969)Gag>Cag	p.E323Q	AR_ENST00000396044.3_Missense_Mutation_p.E323Q|AR_ENST00000504326.1_Missense_Mutation_p.E323Q|AR_ENST00000513847.1_3'UTR	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	321	Modulating.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	GCTAGAAGGCGAGAGCCTAGG	0.572									Androgen Insensitivity Syndrome																													ENST00000374690.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67						c.(967-969)Gag>Cag		androgen receptor	Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)						41.0	32.0	35.0					X																	66765955		2203	4300	6503	SO:0001583	missense	367	Androgen Insensitivity Syndrome	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chrX:66765955G>C	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"""Nuclear hormone receptors"""	644	protein-coding gene	gene with protein product	"""testicular feminization"", ""Kennedy disease"""	313700	"""dihydrotestosterone receptor"", ""spinal and bulbar muscular atrophy"""	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.967G>C	X.37:g.66765955G>C	ENSP00000363822:p.Glu323Gln					AR_ENST00000396044.3_Missense_Mutation_p.E323Q|AR_ENST00000504326.1_Missense_Mutation_p.E323Q|AR_ENST00000513847.1_3'UTR	p.E323Q	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN			1	1491	+	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)	321			Modulating.		A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP	ENST00000374690.3	37	c.967G>C	CCDS14387.1	.	.	.	.	.	.	.	.	.	.	g	11.45	1.641124	0.29157	.	.	ENSG00000169083	ENST00000544984;ENST00000374690;ENST00000504326;ENST00000396044;ENST00000538891	D;D;D	0.95622	-3.76;-3.76;-3.76	4.99	4.11	0.48088	.	0.834308	0.10970	N	0.613888	D	0.94699	0.8290	M	0.68317	2.08	0.09310	N	1	B;B;B	0.26635	0.155;0.039;0.057	B;B;B	0.35550	0.205;0.112;0.058	D	0.86973	0.2099	10	0.25751	T	0.34	.	11.905	0.52705	0.0:0.1726:0.8274:0.0	.	323;323;321	E7EVX6;D3YPQ2;P10275	.;.;ANDR_HUMAN	Q	133;323;323;323;315	ENSP00000363822:E323Q;ENSP00000421155:E323Q;ENSP00000379359:E323Q	ENSP00000363822:E323Q	E	+	1	0	AR	66682680	0.989000	0.36119	0.009000	0.14445	0.900000	0.52787	3.371000	0.52379	1.060000	0.40578	0.509000	0.49947	GAG		0.572	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044		37	9	0	0	0	1	0	37	9				
LIN9	286826	broad.mit.edu	37	1	226485424	226485424	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr1:226485424T>G	ENST00000328205.5	-	3	748	c.203A>C	c.(202-204)gAa>gCa	p.E68A	LIN9_ENST00000481685.1_Missense_Mutation_p.E68A|LIN9_ENST00000366801.1_Missense_Mutation_p.E52A	NM_173083.3	NP_775106.2	Q5TKA1	LIN9_HUMAN	lin-9 DREAM MuvB core complex component	52	Sufficient for interaction with RB1.				DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|transcriptional repressor complex (GO:0017053)				breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		CCTTACCATTTCCACAGCAGA	0.333																																					Ovarian(197;1696 2974 11248 14117)	ENST00000328205.5																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.(202-204)gAa>gCa		lin-9 homolog (C. elegans)							125.0	122.0	123.0					1																	226485424		2203	4298	6501	SO:0001583	missense	286826				cell cycle|DNA replication	nucleoplasm		g.chr1:226485424T>G	AY166858	CCDS1553.1	1q42	2014-07-17	2014-07-17		ENSG00000183814	ENSG00000183814			30830	protein-coding gene	gene with protein product	"""TUDOR gene similar"", ""rb related pathway actor"""	609375	"""lin-9 homolog (C. elegans)"""			15538385, 23667535	Standard	NM_173083		Approved	TGS	uc001hqa.3	Q5TKA1	OTTHUMG00000037557	ENST00000328205.5:c.203A>C	1.37:g.226485424T>G	ENSP00000329102:p.Glu68Ala					LIN9_ENST00000366801.1_Missense_Mutation_p.E52A|LIN9_ENST00000481685.1_Missense_Mutation_p.E68A	p.E68A	NM_173083.3	NP_775106.2	Q5TKA1	LIN9_HUMAN		GBM - Glioblastoma multiforme(131;0.131)	3	748	-	Breast(184;0.158)		52			Sufficient for interaction with RB1.		Q5U5L8|Q5U7E1|Q6PI55|Q6ZTV4|Q7Z3J1	Missense_Mutation	SNP	ENST00000328205.5	37	c.203A>C	CCDS1553.1	.	.	.	.	.	.	.	.	.	.	T	17.35	3.368210	0.61513	.	.	ENSG00000183814	ENST00000460719;ENST00000328205;ENST00000366808;ENST00000366801;ENST00000481685;ENST00000366807	.	.	.	5.69	5.69	0.88448	.	0.099140	0.64402	D	0.000002	T	0.45816	0.1361	L	0.36672	1.1	0.80722	D	1	B;B;P	0.34522	0.319;0.319;0.455	B;B;B	0.31191	0.048;0.048;0.125	T	0.39251	-0.9623	9	0.14656	T	0.56	.	15.936	0.79707	0.0:0.0:0.0:1.0	.	68;52;202	C9J5J4;Q5TKA1;B1ANK3	.;LIN9_HUMAN;.	A	63;68;123;52;68;202	.	ENSP00000329102:E68A	E	-	2	0	LIN9	224552047	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.191000	0.72063	2.153000	0.67306	0.460000	0.39030	GAA		0.333	LIN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091523.2	NM_173083		21	87	0	0	0	1	0	21	87				
EIF2B4	8890	broad.mit.edu	37	2	27592363	27592363	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr2:27592363C>G	ENST00000347454.4	-	3	300	c.129G>C	c.(127-129)aaG>aaC	p.K43N	EIF2B4_ENST00000493344.2_Missense_Mutation_p.K64N|AC074117.10_ENST00000412749.1_RNA|SNX17_ENST00000233575.2_5'Flank|SNX17_ENST00000537606.1_5'Flank|SNX17_ENST00000542478.1_5'Flank|SNX17_ENST00000543024.1_5'Flank|EIF2B4_ENST00000445933.2_Missense_Mutation_p.K43N|EIF2B4_ENST00000451130.2_Missense_Mutation_p.K64N	NM_001034116.1|NM_015636.3	NP_001029288.1|NP_056451.3	Q9UI10	EI2BD_HUMAN	eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa	43					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|gene expression (GO:0010467)|myelination (GO:0042552)|negative regulation of translational initiation (GO:0045947)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|regulation of translation (GO:0006417)|regulation of translational initiation (GO:0006446)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)	translation initiation factor activity (GO:0003743)|translation initiation factor binding (GO:0031369)	p.K64N(1)|p.K43N(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(5)|skin(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTGCTGTTTCTTTTCCTTCC	0.498																																						ENST00000493344.2																			2	Substitution - Missense(2)	p.K64N(1)|p.K43N(1)	cervix(2)	breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(5)|skin(1)	10						c.(190-192)aaG>aaC		eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa							232.0	194.0	207.0					2																	27592363		2203	4300	6503	SO:0001583	missense	8890				myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	translation initiation factor activity|translation initiation factor binding	g.chr2:27592363C>G	AJ011306	CCDS33164.1, CCDS46244.1, CCDS46245.1	2p23.3	2008-02-05	2002-08-29		ENSG00000115211	ENSG00000115211			3260	protein-coding gene	gene with protein product		606687	"""eukaryotic translation initiation factor 2B, subunit 4 (delta, 67kD)"""			8929216, 7982969	Standard	NM_172195		Approved	EIF2Bdelta, EIF-2B, DKFZP586J0119, EIF2B	uc002rjz.3	Q9UI10	OTTHUMG00000151927	ENST00000347454.4:c.129G>C	2.37:g.27592363C>G	ENSP00000233552:p.Lys43Asn					EIF2B4_ENST00000451130.2_Missense_Mutation_p.K64N|EIF2B4_ENST00000445933.2_Missense_Mutation_p.K43N|EIF2B4_ENST00000347454.4_Missense_Mutation_p.K43N	p.K64N			Q9UI10	EI2BD_HUMAN			2	504	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		43					Q53RY7|Q5BJF4|Q9BUV9|Q9UBG4|Q9UIQ9|Q9UJ95	Missense_Mutation	SNP	ENST00000347454.4	37	c.192G>C	CCDS33164.1	.	.	.	.	.	.	.	.	.	.	C	16.84	3.233644	0.58886	.	.	ENSG00000115211	ENST00000347454;ENST00000414437;ENST00000445933;ENST00000451130;ENST00000493344	T;T;T;T	0.80566	-1.39;-1.39;-1.39;-1.39	4.87	1.88	0.25563	.	0.136806	0.64402	D	0.000004	D	0.84933	0.5582	M	0.61703	1.905	0.58432	D	0.999994	D;P;P;P;P	0.89917	1.0;0.857;0.857;0.777;0.915	D;B;B;B;P	0.87578	0.998;0.421;0.329;0.176;0.544	T	0.81835	-0.0750	10	0.40728	T	0.16	-2.7613	8.0727	0.30699	0.0:0.7029:0.0:0.2971	.	37;41;43;43;64	Q59FC8;F5H6W1;Q9UI10-3;Q9UI10;Q9UI10-2	.;.;.;EI2BD_HUMAN;.	N	43;41;43;64;64	ENSP00000233552:K43N;ENSP00000394397:K43N;ENSP00000394869:K64N;ENSP00000429323:K64N	ENSP00000233552:K43N	K	-	3	2	EIF2B4	27445867	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.228000	0.32588	0.659000	0.30945	0.561000	0.74099	AAG		0.498	EIF2B4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324448.1			12	78	0	0	0	1	0	12	78				
DIP2C	22982	broad.mit.edu	37	10	518437	518437	+	Silent	SNP	G	G	A	rs148545889		TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr10:518437G>A	ENST00000280886.6	-	3	297	c.210C>T	c.(208-210)tcC>tcT	p.S70S	DIP2C_ENST00000381496.3_5'UTR	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	70	DMAP-interaction.					nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		AGCGAGAGGCGGAGGAAGGAG	0.582													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18042	0.0		0.0	False		,,,				2504	0.0					ENST00000280886.6																			0				breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81						c.(208-210)tcC>tcT		DIP2 disco-interacting protein 2 homolog C (Drosophila)		G		1,4405	2.1+/-5.4	0,1,2202	146.0	138.0	141.0		210	-11.1	0.0	10	dbSNP_134	141	0,8600		0,0,4300	no	coding-synonymous	DIP2C	NM_014974.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		70/1557	518437	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	22982					nucleus	catalytic activity|transcription factor binding	g.chr10:518437G>A	BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"""KIAA0934"""	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.210C>T	10.37:g.518437G>A						DIP2C_ENST00000381496.3_5'UTR	p.S70S	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)	3	297	-		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	70					B4DPI5|Q5SS78	Silent	SNP	ENST00000280886.6	37	c.210C>T	CCDS7054.1																																																																																				0.582	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974		37	63	0	0	0	1	0	37	63				
MAST2	23139	broad.mit.edu	37	1	46487694	46487694	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr1:46487694A>C	ENST00000361297.2	+	12	1646	c.1363A>C	c.(1363-1365)Aaa>Caa	p.K455Q	MAST2_ENST00000372009.2_Missense_Mutation_p.K385Q	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2											breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					ACAAGGGATTAAATGTGACAT	0.552																																						ENST00000361297.2																			0				breast(1)|lung(3)|ovary(5)|stomach(2)	11						c.(1363-1365)Aaa>Caa		microtubule associated serine/threonine kinase 2							174.0	179.0	178.0					1																	46487694		2057	4216	6273	SO:0001583	missense	23139				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity	g.chr1:46487694A>C	AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.1363A>C	1.37:g.46487694A>C	ENSP00000354671:p.Lys455Gln					MAST2_ENST00000372008.1_Missense_Mutation_p.K340Q|MAST2_ENST00000372009.2_Missense_Mutation_p.K385Q	p.K455Q	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN			12	1646	+	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)		455						Missense_Mutation	SNP	ENST00000361297.2	37	c.1363A>C	CCDS41326.1	.	.	.	.	.	.	.	.	.	.	A	29.1	4.979532	0.92982	.	.	ENSG00000086015	ENST00000361297;ENST00000372009;ENST00000432341;ENST00000372008	T;T;T	0.43294	0.95;0.95;0.95	5.74	4.56	0.56223	Microtubule-associated serine/threonine-protein kinase, domain (1);	0.047596	0.85682	D	0.000000	T	0.70281	0.3206	M	0.90870	3.155	0.49299	D	0.999774	D;B;D;P;D	0.89917	0.996;0.035;0.996;0.916;1.0	D;B;D;P;D	0.87578	0.98;0.015;0.985;0.49;0.998	T	0.77814	-0.2448	10	0.87932	D	0	-15.32	13.569	0.61834	0.8713:0.1287:0.0:0.0	.	129;385;129;385;455	B3KU51;Q6P0Q8-2;E7EWL1;E7ERL6;Q6P0Q8	.;.;.;.;MAST2_HUMAN	Q	455;385;129;340	ENSP00000354671:K455Q;ENSP00000361079:K385Q;ENSP00000361078:K340Q	ENSP00000354671:K455Q	K	+	1	0	MAST2	46260281	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.491000	0.81471	2.326000	0.78906	0.533000	0.62120	AAA		0.552	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021977.1	NM_015112		77	258	0	0	0	1	0	77	258				
DST	667	broad.mit.edu	37	6	56480344	56480344	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr6:56480344C>T	ENST00000370765.6	-	24	8028	c.7921G>A	c.(7921-7923)Gga>Aga	p.G2641R	DST_ENST00000446842.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000361203.3_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	0					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CTAGAAATTCCTGTCATCAGG	0.388																																						ENST00000370765.6																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(7921-7923)Gga>Aga		dystonin							78.0	84.0	82.0					6																	56480344		2203	4300	6503	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56480344C>T	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000370765.6:c.7921G>A	6.37:g.56480344C>T	ENSP00000359801:p.Gly2641Arg					DST_ENST00000312431.6_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000370769.4_Intron	p.G2641R	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		24	8028	-	Lung NSC(77;0.103)		0					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000370765.6	37	c.7921G>A	CCDS4959.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.802160	0.50315	.	.	ENSG00000151914	ENST00000370765	D	0.82803	-1.65	5.94	5.08	0.68730	.	.	.	.	.	T	0.70675	0.3251	.	.	.	0.21697	N	0.999583	B	0.19583	0.037	B	0.22386	0.039	T	0.71803	-0.4482	7	0.66056	D	0.02	.	15.2061	0.73180	0.0:0.9327:0.0:0.0673	.	2641	Q03001-3	.	R	2641	ENSP00000359801:G2641R	ENSP00000359801:G2641R	G	-	1	0	DST	56588303	1.000000	0.71417	0.998000	0.56505	0.878000	0.50629	6.442000	0.73443	1.533000	0.49186	0.557000	0.71058	GGA		0.388	DST-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041027.2	NM_001723		16	38	0	0	0	1	0	16	38				
NLRP8	126205	broad.mit.edu	37	19	56485171	56485171	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr19:56485171T>A	ENST00000291971.3	+	7	2759	c.2688T>A	c.(2686-2688)tgT>tgA	p.C896*	NLRP8_ENST00000590542.1_Nonsense_Mutation_p.C877*	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	896					neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.C896*(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		ACCTGAGATGTCCTCTGCAGA	0.473																																						ENST00000291971.3																			1	Substitution - Nonsense(1)	p.C896*(1)	lung(1)	breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35						c.(2686-2688)tgT>tgA		NLR family, pyrin domain containing 8							116.0	104.0	108.0					19																	56485171		2203	4300	6503	SO:0001587	stop_gained	126205					cytoplasm	ATP binding	g.chr19:56485171T>A	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.2688T>A	19.37:g.56485171T>A	ENSP00000291971:p.Cys896*					NLRP8_ENST00000590542.1_Nonsense_Mutation_p.C877*	p.C896*	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	7	2759	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	896					Q7RTR4	Nonsense_Mutation	SNP	ENST00000291971.3	37	c.2688T>A	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	T	36	5.832403	0.97003	.	.	ENSG00000179709	ENST00000291971	.	.	.	2.04	-1.69	0.08186	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.9182	0.05760	0.0:0.3294:0.2514:0.4192	.	.	.	.	X	896	.	ENSP00000291971:C896X	C	+	3	2	NLRP8	61176983	0.000000	0.05858	0.000000	0.03702	0.183000	0.23260	-0.202000	0.09451	-0.560000	0.06102	0.421000	0.28195	TGT		0.473	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		40	43	0	0	0	1	0	40	43				
TEP1	7011	broad.mit.edu	37	14	20841549	20841549	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr14:20841549G>A	ENST00000262715.5	-	47	6734	c.6694C>T	c.(6694-6696)Cac>Tac	p.H2232Y	TEP1_ENST00000556935.1_Missense_Mutation_p.H2124Y|TEP1_ENST00000545983.1_Missense_Mutation_p.H570Y	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2232					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		AGGAGGGTGTGGGTTTGGCAC	0.582																																						ENST00000262715.5																			0				NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96						c.(6694-6696)Cac>Tac		telomerase-associated protein 1							67.0	67.0	67.0					14																	20841549		2203	4300	6503	SO:0001583	missense	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20841549G>A		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.6694C>T	14.37:g.20841549G>A	ENSP00000262715:p.His2232Tyr					TEP1_ENST00000545983.1_Missense_Mutation_p.H570Y|TEP1_ENST00000556935.1_Missense_Mutation_p.H2124Y	p.H2232Y	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	47	6734	-	all_cancers(95;0.00123)	all_lung(585;0.235)	2232					A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	c.6694C>T	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.118197	0.37339	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935;ENST00000545983	T;T;T	0.60299	0.2;0.2;0.2	5.06	5.06	0.68205	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.537430	0.21390	N	0.075323	T	0.52789	0.1756	N	0.17564	0.495	0.24012	N	0.99618	P;P;P;P	0.52316	0.917;0.886;0.952;0.906	P;P;P;P	0.52793	0.486;0.544;0.709;0.673	T	0.48658	-0.9016	10	0.39692	T	0.17	-11.3105	14.2885	0.66260	0.0:0.0:1.0:0.0	.	570;2124;1575;2232	B4E0B6;G3V5X7;G3V2A4;Q99973	.;.;.;TEP1_HUMAN	Y	2232;2232;2124;570	ENSP00000262715:H2232Y;ENSP00000452574:H2124Y;ENSP00000438849:H570Y	ENSP00000262715:H2232Y	H	-	1	0	TEP1	19911389	1.000000	0.71417	0.851000	0.33527	0.004000	0.04260	3.164000	0.50770	2.508000	0.84585	0.655000	0.94253	CAC		0.582	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		34	36	0	0	0	1	0	34	36				
PAX6	5080	broad.mit.edu	37	11	31822284	31822284	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr11:31822284G>C	ENST00000379132.3	-	6	758	c.478C>G	c.(478-480)Cct>Gct	p.P160A	PAX6_ENST00000379123.5_Missense_Mutation_p.P160A|PAX6_ENST00000419022.1_Missense_Mutation_p.P174A|PAX6_ENST00000379107.2_Missense_Mutation_p.P174A|PAX6_ENST00000379115.4_Missense_Mutation_p.P174A|PAX6_ENST00000379111.2_Missense_Mutation_p.P160A|PAX6_ENST00000241001.8_Missense_Mutation_p.P160A|PAX6_ENST00000379129.2_Missense_Mutation_p.P174A|PAX6_ENST00000533156.1_5'Flank			P26367	PAX6_HUMAN	paired box 6	160	Gln/Gly-rich.				astrocyte differentiation (GO:0048708)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|cerebral cortex regionalization (GO:0021796)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|cornea development in camera-type eye (GO:0061303)|dorsal/ventral axis specification (GO:0009950)|embryonic camera-type eye morphogenesis (GO:0048596)|eye development (GO:0001654)|eye photoreceptor cell development (GO:0042462)|forebrain anterior/posterior pattern specification (GO:0021797)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain-midbrain boundary formation (GO:0021905)|glucose homeostasis (GO:0042593)|hindbrain development (GO:0030902)|iris morphogenesis (GO:0061072)|keratinocyte differentiation (GO:0030216)|lacrimal gland development (GO:0032808)|lens development in camera-type eye (GO:0002088)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|neuron migration (GO:0001764)|oligodendrocyte cell fate specification (GO:0021778)|organ morphogenesis (GO:0009887)|pancreatic A cell development (GO:0003322)|pituitary gland development (GO:0021983)|positive regulation of cell fate specification (GO:0042660)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of gene expression (GO:0010628)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to organelle (GO:0033365)|protein ubiquitination (GO:0016567)|regulation of cell migration (GO:0030334)|regulation of timing of cell differentiation (GO:0048505)|regulation of transcription from RNA polymerase II promoter involved in somatic motor neuron fate commitment (GO:0021918)|regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification (GO:0021912)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|salivary gland morphogenesis (GO:0007435)|signal transduction involved in regulation of gene expression (GO:0023019)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell differentiation (GO:0003309)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					TACCAACCAGGGCGGGTGCCC	0.567									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation																													ENST00000419022.1																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35						c.(520-522)Cct>Gct		paired box 6							137.0	135.0	135.0					11																	31822284		2202	4299	6501	SO:0001583	missense	5080	Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation	Familial Cancer Database	WAGR syndrome	blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity	g.chr11:31822284G>C	AY707088	CCDS31451.1, CCDS31452.1	11p13	2014-09-17	2007-07-12		ENSG00000007372	ENSG00000007372		"""Paired boxes"", ""Homeoboxes / PRD class"""	8620	protein-coding gene	gene with protein product	"""aniridia, keratitis"""	607108	"""paired box gene 6 (aniridia, keratitis)"""	AN2		1302030	Standard	NM_001127612		Approved	D11S812E, AN, WAGR	uc021qfm.1	P26367	OTTHUMG00000041447	ENST00000379132.3:c.478C>G	11.37:g.31822284G>C	ENSP00000368427:p.Pro160Ala					PAX6_ENST00000241001.8_Missense_Mutation_p.P160A|PAX6_ENST00000379123.5_Missense_Mutation_p.P160A|PAX6_ENST00000379115.4_Missense_Mutation_p.P174A|PAX6_ENST00000379107.2_Missense_Mutation_p.P174A|PAX6_ENST00000379132.3_Missense_Mutation_p.P160A|PAX6_ENST00000379111.2_Missense_Mutation_p.P160A|PAX6_ENST00000379129.2_Missense_Mutation_p.P174A	p.P174A	NM_001127612.1|NM_001258462.1|NM_001258463.1	NP_001121084.1|NP_001245391.1|NP_001245392.1	P26367	PAX6_HUMAN			8	988	-	Lung SC(675;0.225)		160			Gln/Gly-rich.		Q6N006|Q99413	Missense_Mutation	SNP	ENST00000379132.3	37	c.520C>G	CCDS31451.1	.	.	.	.	.	.	.	.	.	.	G	15.27	2.783755	0.49891	.	.	ENSG00000007372	ENST00000419022;ENST00000379132;ENST00000379129;ENST00000379107;ENST00000241001;ENST00000379115;ENST00000379111;ENST00000379123;ENST00000494377;ENST00000470027;ENST00000379109;ENST00000533333;ENST00000531910;ENST00000471303;ENST00000455099;ENST00000481563	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.98987	-3.31;-3.31;-3.31;-3.31;-3.31;-3.31;-3.31;-3.31;-2.8;-2.8;-3.31;-3.08;-2.79;-3.54;-5.3	4.35	4.35	0.52113	.	0.054060	0.85682	D	0.000000	D	0.96978	0.9013	L	0.34521	1.04	0.80722	D	1	B;B	0.15719	0.014;0.0	B;B	0.18263	0.021;0.001	D	0.95578	0.8644	10	0.32370	T	0.25	.	16.845	0.85978	0.0:0.0:1.0:0.0	.	174;160	F1T0F8;P26367	.;PAX6_HUMAN	A	174;160;174;174;160;174;160;160;24;24;160;115;24;24;107;24	ENSP00000404100:P174A;ENSP00000368427:P160A;ENSP00000368424:P174A;ENSP00000368401:P174A;ENSP00000241001:P160A;ENSP00000368410:P174A;ENSP00000368406:P160A;ENSP00000368418:P160A;ENSP00000451901:P24A;ENSP00000450775:P24A;ENSP00000368403:P160A;ENSP00000451372:P115A;ENSP00000452558:P24A;ENSP00000435884:P24A;ENSP00000397384:P107A	ENSP00000241001:P160A	P	-	1	0	PAX6	31778860	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.251000	0.95483	2.130000	0.65690	0.561000	0.74099	CCT		0.567	PAX6-008	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000099293.4	NM_001604		43	76	0	0	0	1	0	43	76				
ZNF711	7552	broad.mit.edu	37	X	84526391	84526391	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chrX:84526391A>G	ENST00000373165.3	+	9	2149	c.1843A>G	c.(1843-1845)Aag>Gag	p.K615E	ZNF711_ENST00000395402.1_Missense_Mutation_p.K623E|ZNF711_ENST00000542798.1_Missense_Mutation_p.K457E|ZNF711_ENST00000360700.4_Missense_Mutation_p.K661E|ZNF711_ENST00000276123.3_Missense_Mutation_p.K615E	NM_021998.4	NP_068838.3	Q9Y462	ZN711_HUMAN	zinc finger protein 711	615					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						TGTCCATACTAAGGATTTTCC	0.408																																						ENST00000360700.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						c.(1981-1983)Aag>Gag		zinc finger protein 711							78.0	61.0	67.0					X																	84526391		2203	4300	6503	SO:0001583	missense	7552				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding	g.chrX:84526391A>G	BC006349	CCDS35344.1	Xq21.1	2014-02-19	2006-06-29	2006-06-29	ENSG00000147180	ENSG00000147180		"""Zinc fingers, C2H2-type"""	13128	protein-coding gene	gene with protein product		314990	"""zinc finger protein 6 (CMPX1)"", ""zinc finger protein 6"""	ZNF6		19377476	Standard	XM_005262186		Approved	CMPX1, ZNF4, ZNF5, dJ75N13.1, Zfp711, MRX97	uc004eeo.3	Q9Y462	OTTHUMG00000021933	ENST00000373165.3:c.1843A>G	X.37:g.84526391A>G	ENSP00000362260:p.Lys615Glu					ZNF711_ENST00000395402.1_Missense_Mutation_p.K623E|ZNF711_ENST00000276123.3_Missense_Mutation_p.K615E|ZNF711_ENST00000373165.3_Missense_Mutation_p.K615E|ZNF711_ENST00000542798.1_Missense_Mutation_p.K457E	p.K661E			Q9Y462	ZN711_HUMAN			10	2867	+			615					B4DSV4|Q6NX42|Q9Y4J6	Missense_Mutation	SNP	ENST00000373165.3	37	c.1981A>G	CCDS35344.1	.	.	.	.	.	.	.	.	.	.	A	16.19	3.053509	0.55218	.	.	ENSG00000147180	ENST00000395402;ENST00000373165;ENST00000276123;ENST00000360700;ENST00000542798	T;T;T;T;T	0.19806	2.12;2.12;2.12;2.12;2.12	5.5	4.33	0.51752	Zinc finger, C2H2 (1);	0.000000	0.45606	D	0.000353	T	0.32164	0.0820	L	0.33710	1.025	0.46396	D	0.99902	D;B	0.61697	0.99;0.43	D;B	0.72982	0.979;0.286	T	0.01776	-1.1276	10	0.46703	T	0.11	-11.3011	10.4781	0.44676	0.9229:0.0:0.0771:0.0	.	661;615	Q9Y462-3;Q9Y462	.;ZN711_HUMAN	E	623;615;615;661;457	ENSP00000378798:K623E;ENSP00000362260:K615E;ENSP00000276123:K615E;ENSP00000353922:K661E;ENSP00000442071:K457E	ENSP00000276123:K615E	K	+	1	0	ZNF711	84413047	1.000000	0.71417	0.988000	0.46212	0.982000	0.71751	9.339000	0.96797	0.732000	0.32470	0.417000	0.27973	AAG		0.408	ZNF711-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057388.2	NM_021998		14	4	0	0	0	1	0	14	4				
USH1G	124590	broad.mit.edu	37	17	72916692	72916692	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr17:72916692C>A	ENST00000319642.1	-	2	421	c.239G>T	c.(238-240)tGc>tTc	p.C80F		NM_001282489.1|NM_173477.2	NP_001269418.1|NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	80					equilibrioception (GO:0050957)|inner ear morphogenesis (GO:0042472)|inner ear receptor cell differentiation (GO:0060113)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	spectrin binding (GO:0030507)		HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					GAAGGACAGGCAGTGCAAGTG	0.592																																						ENST00000319642.1																		HN1/USH1G(2)	0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14						c.(238-240)tGc>tTc		Usher syndrome 1G (autosomal recessive)							99.0	84.0	89.0					17																	72916692		2203	4300	6503	SO:0001583	missense	124590				equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton		g.chr17:72916692C>A	AK091243	CCDS32725.1	17q25.1	2013-01-10			ENSG00000182040	ENSG00000182040		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	16356	protein-coding gene	gene with protein product		607696				12588794	Standard	NM_001282489		Approved	Sans, FLJ33924, ANKS4A	uc002jme.1	Q495M9	OTTHUMG00000178864	ENST00000319642.1:c.239G>T	17.37:g.72916692C>A	ENSP00000320076:p.Cys80Phe						p.C80F	NM_173477.2	NP_775748.2	Q495M9	USH1G_HUMAN			2	421	-	all_lung(278;0.172)|Lung NSC(278;0.207)		80					Q8N251	Missense_Mutation	SNP	ENST00000319642.1	37	c.239G>T	CCDS32725.1	.	.	.	.	.	.	.	.	.	.	C	18.99	3.739109	0.69304	.	.	ENSG00000182040	ENST00000319642	T	0.64991	-0.13	3.8	3.8	0.43715	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.69486	0.3116	L	0.35487	1.065	0.80722	D	1	D	0.67145	0.996	D	0.71414	0.973	T	0.74523	-0.3637	10	0.72032	D	0.01	-22.0782	16.2003	0.82067	0.0:1.0:0.0:0.0	.	80	Q495M9	USH1G_HUMAN	F	80	ENSP00000320076:C80F	ENSP00000320076:C80F	C	-	2	0	USH1G	70428287	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.797000	0.69087	2.118000	0.64928	0.313000	0.20887	TGC		0.592	USH1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443676.1	NM_173477		18	74	1	0	2.35188e-11	1	2.50317e-11	18	74				
MTFR2	113115	broad.mit.edu	37	6	136560842	136560842	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr6:136560842G>A	ENST00000420702.1	-	6	1020	c.631C>T	c.(631-633)Cct>Tct	p.P211S	MTFR2_ENST00000451457.2_Missense_Mutation_p.P211S	NM_001099286.1	NP_001092756.1	Q6P444	MTFR2_HUMAN	mitochondrial fission regulator 2	211	Pro-rich.				aerobic respiration (GO:0009060)|mitochondrial fission (GO:0000266)|mitochondrion organization (GO:0007005)	mitochondrion (GO:0005739)											agtggtggaggaggaggagga	0.512																																						ENST00000420702.1																			0											c.(631-633)Cct>Tct		mitochondrial fission regulator 2							68.0	60.0	63.0					6																	136560842		2203	4300	6503	SO:0001583	missense	113115							g.chr6:136560842G>A	BC011716	CCDS5176.1	6q23.2	2012-11-30	2012-11-29	2012-11-29	ENSG00000146410	ENSG00000146410			21115	protein-coding gene	gene with protein product			"""DUF729 domain containing 1"", ""family with sequence similarity 54, member A"""	DUFD1, FAM54A			Standard	NM_138419		Approved		uc003qgt.1	Q6P444	OTTHUMG00000015643	ENST00000420702.1:c.631C>T	6.37:g.136560842G>A	ENSP00000395232:p.Pro211Ser					MTFR2_ENST00000451457.2_Missense_Mutation_p.P211S	p.P211S	NM_001099286.1	NP_001092756.1					6	1020	-								A8K8D8|E1P585|Q5JWR7|Q6ZUE8|Q7L3U6|Q9BZ39	Missense_Mutation	SNP	ENST00000420702.1	37	c.631C>T	CCDS5176.1	.	.	.	.	.	.	.	.	.	.	G	15.98	2.993938	0.54041	.	.	ENSG00000146410	ENST00000451457;ENST00000420702;ENST00000418509	T;T;T	0.58940	0.3;0.3;0.3	5.63	4.76	0.60689	.	0.116551	0.64402	D	0.000018	T	0.51991	0.1707	M	0.83774	2.66	0.46061	D	0.998844	P	0.47484	0.896	P	0.51866	0.682	T	0.58775	-0.7577	10	0.14252	T	0.57	-12.159	8.12	0.30965	0.0834:0.1608:0.7558:0.0	.	211	Q6P444	FA54A_HUMAN	S	211;211;168	ENSP00000407010:P211S;ENSP00000395232:P211S;ENSP00000410861:P168S	ENSP00000410861:P168S	P	-	1	0	FAM54A	136602535	0.982000	0.34865	0.741000	0.31004	0.264000	0.26372	2.257000	0.43240	1.370000	0.46153	0.650000	0.86243	CCT		0.512	MTFR2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042378.2	NM_138419		13	36	0	0	0	1	0	13	36				
TMUB1	83590	broad.mit.edu	37	7	150778971	150778971	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr7:150778971G>A	ENST00000392818.3	-	3	763	c.406C>T	c.(406-408)Cgg>Tgg	p.R136W	TMUB1_ENST00000482202.1_Missense_Mutation_p.R136W|FASTK_ENST00000482571.1_5'Flank|TMUB1_ENST00000476627.1_Missense_Mutation_p.R136W|FASTK_ENST00000540185.1_5'Flank|FASTK_ENST00000353841.2_5'Flank|FASTK_ENST00000297532.6_5'Flank|TMUB1_ENST00000297533.4_Missense_Mutation_p.R136W|FASTK_ENST00000489884.1_5'Flank|TMUB1_ENST00000462940.1_Missense_Mutation_p.R136W	NM_031434.3	NP_113622.1	Q9BVT8	TMUB1_HUMAN	transmembrane and ubiquitin-like domain containing 1	136	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				endometrium(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGCTGTTCCCGGCCGGGAAAC	0.647																																						ENST00000392818.3																			0				endometrium(1)|lung(1)	2						c.(406-408)Cgg>Tgg		transmembrane and ubiquitin-like domain containing 1							17.0	14.0	15.0					7																	150778971		2191	4293	6484	SO:0001583	missense	83590					cytoplasm|integral to membrane|nucleus		g.chr7:150778971G>A	BC000936	CCDS5920.1	7q36.1	2006-06-27	2006-06-27	2006-06-27	ENSG00000164897	ENSG00000164897			21709	protein-coding gene	gene with protein product		614792	"""chromosome 7 open reading frame 21"""	C7orf21			Standard	NM_001136044		Approved	SB144	uc003wjd.3	Q9BVT8	OTTHUMG00000158621	ENST00000392818.3:c.406C>T	7.37:g.150778971G>A	ENSP00000376565:p.Arg136Trp					TMUB1_ENST00000476627.1_Missense_Mutation_p.R136W|TMUB1_ENST00000462940.1_Missense_Mutation_p.R136W|TMUB1_ENST00000482202.1_Missense_Mutation_p.R136W|TMUB1_ENST00000297533.4_Missense_Mutation_p.R136W	p.R136W	NM_031434.3	NP_113622.1	Q9BVT8	TMUB1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	763	-			136			Ubiquitin-like.		D3DX06|Q53AQ2	Missense_Mutation	SNP	ENST00000392818.3	37	c.406C>T	CCDS5920.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.177395	0.78564	.	.	ENSG00000164897	ENST00000297533;ENST00000392818;ENST00000462940;ENST00000482202;ENST00000476627;ENST00000488752;ENST00000492838	T;T;T;T;T;T	0.45668	0.91;0.91;0.91;0.91;0.91;0.89	4.9	3.07	0.35406	Ubiquitin supergroup (1);Ubiquitin (1);	0.254864	0.33272	N	0.005088	T	0.45054	0.1323	L	0.47716	1.5	0.31922	N	0.61337	D	0.65815	0.995	P	0.53490	0.727	T	0.55648	-0.8108	10	0.87932	D	0	.	8.3573	0.32338	0.083:0.0:0.7623:0.1547	.	136	Q9BVT8	TMUB1_HUMAN	W	136	ENSP00000297533:R136W;ENSP00000376565:R136W;ENSP00000417519:R136W;ENSP00000418709:R136W;ENSP00000419214:R136W;ENSP00000420692:R136W	ENSP00000297533:R136W	R	-	1	2	TMUB1	150409904	1.000000	0.71417	0.996000	0.52242	0.917000	0.54804	6.280000	0.72626	0.453000	0.26858	0.313000	0.20887	CGG		0.647	TMUB1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351485.1	NM_031434		4	2	0	0	0	1	0	4	2				
LCT	3938	broad.mit.edu	37	2	136570329	136570329	+	Silent	SNP	G	G	A			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr2:136570329G>A	ENST00000264162.2	-	7	1915	c.1905C>T	c.(1903-1905)gtC>gtT	p.V635V	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	635	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	CATCCACAAAGACGGGGTGTG	0.582																																						ENST00000264162.2																			0				breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124						c.(1903-1905)gtC>gtT		lactase							100.0	86.0	91.0					2																	136570329		2203	4300	6503	SO:0001819	synonymous_variant	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136570329G>A	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.1905C>T	2.37:g.136570329G>A							p.V635V	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	7	1915	-			635			4 X approximate repeats.		Q4ZG58	Silent	SNP	ENST00000264162.2	37	c.1905C>T	CCDS2178.1																																																																																				0.582	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		12	93	0	0	0	1	0	12	93				
UNC5B	219699	broad.mit.edu	37	10	73053606	73053606	+	Silent	SNP	G	G	T			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr10:73053606G>T	ENST00000335350.6	+	13	2507	c.2091G>T	c.(2089-2091)ctG>ctT	p.L697L	UNC5B_ENST00000373192.4_Silent_p.L686L	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	697	UPA domain. {ECO:0000250}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						GGCTCCAGCTGGCCGTCTTCG	0.657																																						ENST00000335350.6																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						c.(2089-2091)ctG>ctT		unc-5 homolog B (C. elegans)							34.0	31.0	32.0					10																	73053606		2203	4300	6503	SO:0001819	synonymous_variant	219699				apoptosis|axon guidance|regulation of apoptosis	integral to membrane		g.chr10:73053606G>T	AB096256	CCDS7309.1, CCDS58083.1	10q22.2	2013-01-11	2001-11-28		ENSG00000107731	ENSG00000107731		"""Immunoglobulin superfamily / I-set domain containing"""	12568	protein-coding gene	gene with protein product		607870	"""unc5 (C.elegans homolog) b"""				Standard	NM_170744		Approved	UNC5H2, p53RDL1	uc001jro.3	Q8IZJ1	OTTHUMG00000018422	ENST00000335350.6:c.2091G>T	10.37:g.73053606G>T						UNC5B_ENST00000373192.4_Silent_p.L686L	p.L697L	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN			13	2507	+			697					Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Silent	SNP	ENST00000335350.6	37	c.2091G>T	CCDS7309.1																																																																																				0.657	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048541.1	NM_170744		6	19	1	0	0.248553	1	0.248553	6	19				
CR1L	1379	broad.mit.edu	37	1	207857216	207857216	+	Splice_Site	SNP	G	G	C			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr1:207857216G>C	ENST00000508064.2	+	4	437		c.e4-1		CR1L_ENST00000530905.1_Splice_Site	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like							cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|receptor complex (GO:0043235)				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TTTGCCTCTAGATACCGACTC	0.378																																						ENST00000508064.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.e4-1		complement component (3b/4b) receptor 1-like							181.0	172.0	175.0					1																	207857216		1960	4160	6120	SO:0001630	splice_region_variant	1379					cytoplasm|extracellular region|membrane		g.chr1:207857216G>C	AY114160	CCDS44310.1	1q32.1	2008-02-05			ENSG00000197721	ENSG00000197721		"""Complement system"""	2335	protein-coding gene	gene with protein product		605886				2295627	Standard	NM_175710		Approved		uc001hga.4	Q2VPA4	OTTHUMG00000036354	ENST00000508064.2:c.378-1G>C	1.37:g.207857216G>C						CR1L_ENST00000530905.1_Splice_Site		NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN			4	437	+								Q32MC9|Q8NEU7	Splice_Site	SNP	ENST00000508064.2	37		CCDS44310.1	.	.	.	.	.	.	.	.	.	.	-	13.22	2.173005	0.38413	.	.	ENSG00000197721	ENST00000444269;ENST00000508064	.	.	.	2.81	2.81	0.32909	.	.	.	.	.	.	.	.	.	.	.	0.46701	D	0.999165	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.1748	0.37105	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CR1L	205923839	0.888000	0.30383	0.044000	0.18714	0.592000	0.36648	3.503000	0.53340	1.583000	0.49898	0.411000	0.27672	.		0.378	CR1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390247.1	XM_114735	Intron	12	22	0	0	0	1	0	12	22				
RNF182	221687	broad.mit.edu	37	6	13978077	13978077	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr6:13978077A>G	ENST00000488300.1	+	3	1250	c.727A>G	c.(727-729)Atg>Gtg	p.M243V	RNF182_ENST00000544682.1_Missense_Mutation_p.M243V|RNF182_ENST00000537663.1_Missense_Mutation_p.M243V|RNF182_ENST00000537388.1_Missense_Mutation_p.M243V	NM_152737.3	NP_689950.1	Q8N6D2	RN182_HUMAN	ring finger protein 182	243					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|large_intestine(7)|liver(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(50;0.00405)|Ovarian(93;0.0964)	all_hematologic(90;0.135)	Epithelial(50;0.195)			TCTAGACTGTATGGCACCTCC	0.388																																						ENST00000488300.1																			0				cervix(1)|large_intestine(7)|liver(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(727-729)Atg>Gtg		ring finger protein 182							150.0	143.0	145.0					6																	13978077		2203	4300	6503	SO:0001583	missense	221687					cytoplasm|integral to membrane|intracellular membrane-bounded organelle	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:13978077A>G	AK090576	CCDS4531.1	6p23	2013-01-09			ENSG00000180537	ENSG00000180537		"""RING-type (C3HC4) zinc fingers"""	28522	protein-coding gene	gene with protein product						12477932	Standard	NM_152737		Approved	MGC33993	uc003nbg.3	Q8N6D2	OTTHUMG00000014280	ENST00000488300.1:c.727A>G	6.37:g.13978077A>G	ENSP00000420465:p.Met243Val					RNF182_ENST00000537663.1_Missense_Mutation_p.M243V|RNF182_ENST00000537388.1_Missense_Mutation_p.M243V|RNF182_ENST00000544682.1_Missense_Mutation_p.M243V	p.M243V	NM_152737.3	NP_689950.1	Q8N6D2	RN182_HUMAN	Epithelial(50;0.195)		3	1250	+	Breast(50;0.00405)|Ovarian(93;0.0964)	all_hematologic(90;0.135)	243					B2RDG2|Q8NBG3	Missense_Mutation	SNP	ENST00000488300.1	37	c.727A>G	CCDS4531.1	.	.	.	.	.	.	.	.	.	.	A	0.909	-0.719751	0.03182	.	.	ENSG00000180537	ENST00000537663;ENST00000488300;ENST00000544682;ENST00000537388	D;D;D;D	0.86097	-2.07;-2.07;-2.07;-2.07	5.21	-0.307	0.12777	.	0.445397	0.28382	N	0.015549	T	0.37652	0.1011	N	0.03608	-0.345	0.36012	D	0.838101	B	0.02656	0.0	B	0.01281	0.0	T	0.02553	-1.1142	9	.	.	.	-22.5463	2.5962	0.04855	0.4621:0.1381:0.0656:0.3342	.	243	Q8N6D2	RN182_HUMAN	V	243	ENSP00000443228:M243V;ENSP00000420465:M243V;ENSP00000442021:M243V;ENSP00000441271:M243V	.	M	+	1	0	RNF182	14086056	0.998000	0.40836	0.993000	0.49108	0.976000	0.68499	0.400000	0.20932	-0.202000	0.10268	0.455000	0.32223	ATG		0.388	RNF182-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039911.2	NM_152737		12	158	0	0	0	1	0	12	158				
NIN	51199	broad.mit.edu	37	14	51204924	51204924	+	Silent	SNP	T	T	C			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr14:51204924T>C	ENST00000382041.3	-	27	5899	c.5709A>G	c.(5707-5709)caA>caG	p.Q1903Q	NIN_ENST00000453196.1_Silent_p.Q1903Q|NIN_ENST00000389868.3_Silent_p.Q1190Q|NIN_ENST00000530997.2_Silent_p.Q1903Q|NIN_ENST00000382043.4_Silent_p.Q1190Q|NIN_ENST00000245441.5_Silent_p.Q1903Q|NIN_ENST00000324330.9_Silent_p.Q1903Q	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1903					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TCAATTTTTCTTGCTCTGTGG	0.408			T	PDGFRB	MPD																																	ENST00000245441.5				Dom	yes		14	14q24	51199	T	ninein (GSK3B interacting protein)			L	PDGFRB		MPD		0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71						c.(5707-5709)caA>caG		ninein (GSK3B interacting protein)							258.0	235.0	243.0					14																	51204924		2203	4300	6503	SO:0001819	synonymous_variant	51199				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding	g.chr14:51204924T>C	AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"""EF-hand domain containing"""	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.5709A>G	14.37:g.51204924T>C						NIN_ENST00000530997.2_Silent_p.Q1903Q|NIN_ENST00000382041.3_Silent_p.Q1903Q|NIN_ENST00000453196.1_Silent_p.Q1903Q|NIN_ENST00000382043.4_Silent_p.Q1190Q|NIN_ENST00000324330.9_Silent_p.Q1903Q|NIN_ENST00000389868.3_Silent_p.Q1190Q	p.Q1903Q	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN			27	5899	-	all_epithelial(31;0.00244)|Breast(41;0.127)		1903					A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Silent	SNP	ENST00000382041.3	37	c.5709A>G	CCDS32079.1	.	.	.	.	.	.	.	.	.	.	T	8.519	0.868374	0.17250	.	.	ENSG00000100503	ENST00000530997;ENST00000389869;ENST00000530853	.	.	.	5.72	-5.42	0.02640	.	.	.	.	.	T	0.53786	0.1818	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55541	-0.8125	4	.	.	.	-8.597	11.0982	0.48157	0.0:0.5691:0.1057:0.3252	.	.	.	.	G	1394	.	.	R	-	1	2	NIN	50274674	0.800000	0.28916	0.903000	0.35520	0.870000	0.49936	-0.373000	0.07494	-1.143000	0.02866	-0.374000	0.07098	AGA		0.408	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946		48	51	0	0	0	1	0	48	51				
SEC24B	10427	broad.mit.edu	37	4	110448567	110448567	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr4:110448567A>G	ENST00000265175.5	+	18	3110	c.3055A>G	c.(3055-3057)Atc>Gtc	p.I1019V	SEC24B_ENST00000399100.2_Missense_Mutation_p.I984V|SEC24B_ENST00000504968.2_Missense_Mutation_p.I1049V	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	1019					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|aorta morphogenesis (GO:0035909)|auditory receptor cell stereocilium organization (GO:0060088)|cellular protein metabolic process (GO:0044267)|cochlear nucleus development (GO:0021747)|COPII vesicle coating (GO:0048208)|coronary artery morphogenesis (GO:0060982)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|lung lobe morphogenesis (GO:0060463)|membrane organization (GO:0061024)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|pulmonary artery morphogenesis (GO:0061156)|regulation of cargo loading into COPII-coated vesicle (GO:1901301)|regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|membrane (GO:0016020)	transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		ACAAGCTGCCATCTGCCTTCT	0.418																																						ENST00000265175.5																			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(3055-3057)Atc>Gtc		SEC24 family member B							126.0	117.0	120.0					4																	110448567		1899	4122	6021	SO:0001583	missense	10427				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding	g.chr4:110448567A>G	AJ131245	CCDS43260.1, CCDS47124.1, CCDS75179.1	4q25	2013-10-21	2013-10-21		ENSG00000138802	ENSG00000138802			10704	protein-coding gene	gene with protein product		607184	"""SEC24 (S. cerevisiae) related gene family, member B"", ""SEC24 family, member B (S. cerevisiae)"""			10075675, 10329445	Standard	XM_005262688		Approved		uc003hzk.3	O95487	OTTHUMG00000161372	ENST00000265175.5:c.3055A>G	4.37:g.110448567A>G	ENSP00000265175:p.Ile1019Val					SEC24B_ENST00000504968.2_Missense_Mutation_p.I1049V|SEC24B_ENST00000399100.2_Missense_Mutation_p.I984V	p.I1019V	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)	18	3110	+		Hepatocellular(203;0.217)	1019					B7ZKM8|B7ZKN4|Q0VG08	Missense_Mutation	SNP	ENST00000265175.5	37	c.3055A>G	CCDS47124.1	.	.	.	.	.	.	.	.	.	.	A	2.616	-0.289677	0.05568	.	.	ENSG00000138802	ENST00000504968;ENST00000399100;ENST00000265175	D;D;D	0.88431	-2.38;-2.38;-2.38	5.4	0.0517	0.14299	Sec23/Sec24, helical domain (2);	0.211014	0.48767	N	0.000163	T	0.66396	0.2785	N	0.01515	-0.825	0.31749	N	0.634835	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.06405	0.002;0.001;0.002;0.001;0.002	T	0.59815	-0.7383	10	0.08599	T	0.76	-5.9563	10.7693	0.46312	0.6505:0.0:0.3495:0.0	.	933;618;1049;984;1019	B4DTM6;B4E2E1;B7ZKM8;O95487-2;O95487	.;.;.;.;SC24B_HUMAN	V	1049;984;1019	ENSP00000428564:I1049V;ENSP00000382051:I984V;ENSP00000265175:I1019V	ENSP00000265175:I1019V	I	+	1	0	SEC24B	110668016	0.000000	0.05858	0.914000	0.36105	0.993000	0.82548	0.076000	0.14712	0.100000	0.17581	0.533000	0.62120	ATC		0.418	SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364693.2			21	26	0	0	0	1	0	21	26				
CRKL	1399	broad.mit.edu	37	22	21272519	21272519	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr22:21272519C>G	ENST00000354336.3	+	1	806	c.297C>G	c.(295-297)atC>atG	p.I99M		NM_005207.3	NP_005198.1	P46109	CRKL_HUMAN	v-crk avian sarcoma virus CT10 oncogene homolog-like	99	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				activation of MAPKK activity (GO:0000186)|anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|heart development (GO:0007507)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|parathyroid gland development (GO:0060017)|positive regulation of signal transduction (GO:0009967)|Ras protein signal transduction (GO:0007265)|thymus development (GO:0048538)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)	poly(A) RNA binding (GO:0044822)|SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)	14	all_cancers(11;1.16e-25)|all_epithelial(7;3.37e-24)|Lung NSC(8;7.25e-16)|all_lung(8;1.37e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.176)			CCACCCTCATCGAGCCTGCGC	0.612																																					Pancreas(85;3 1441 23889 42519 42763)	ENST00000354336.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)	14						c.(295-297)atC>atG		v-crk avian sarcoma virus CT10 oncogene homolog-like							32.0	32.0	32.0					22																	21272519		2203	4300	6503	SO:0001583	missense	1399				JNK cascade|Ras protein signal transduction	cytosol	protein tyrosine kinase activity|SH3/SH2 adaptor activity|signal transducer activity	g.chr22:21272519C>G		CCDS13785.1	22q11.21	2013-07-09	2013-07-09		ENSG00000099942	ENSG00000099942		"""SH2 domain containing"""	2363	protein-coding gene	gene with protein product		602007				8361759, 8798523	Standard	NM_005207		Approved		uc002ztf.2	P46109	OTTHUMG00000150807	ENST00000354336.3:c.297C>G	22.37:g.21272519C>G	ENSP00000346300:p.Ile99Met						p.I99M	NM_005207.3	NP_005198.1	P46109	CRKL_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.176)		1	806	+	all_cancers(11;1.16e-25)|all_epithelial(7;3.37e-24)|Lung NSC(8;7.25e-16)|all_lung(8;1.37e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	99			SH2.		A8KA44|D3DX35	Missense_Mutation	SNP	ENST00000354336.3	37	c.297C>G	CCDS13785.1	.	.	.	.	.	.	.	.	.	.	C	15.97	2.989719	0.54041	.	.	ENSG00000099942	ENST00000354336	T	0.26223	1.75	5.37	5.37	0.77165	Src homology-3 domain (1);SH2 motif (2);	0.088882	0.85682	N	0.000000	T	0.32133	0.0819	M	0.63428	1.95	0.80722	D	1	B	0.22080	0.064	B	0.25291	0.059	T	0.09952	-1.0651	10	0.72032	D	0.01	.	16.9579	0.86264	0.0:1.0:0.0:0.0	.	99	P46109	CRKL_HUMAN	M	99	ENSP00000346300:I99M	ENSP00000346300:I99M	I	+	3	3	CRKL	19602519	1.000000	0.71417	1.000000	0.80357	0.181000	0.23173	1.451000	0.35145	2.674000	0.91012	0.650000	0.86243	ATC		0.612	CRKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320158.1	NM_005207		20	12	0	0	0	1	0	20	12				
LMTK2	22853	broad.mit.edu	37	7	97823729	97823729	+	Missense_Mutation	SNP	G	G	A	rs369984636		TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr7:97823729G>A	ENST00000297293.5	+	11	4245	c.3952G>A	c.(3952-3954)Gtg>Atg	p.V1318M		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1318					early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CGAGCACCCCGTGCCCATCAT	0.637																																						ENST00000297293.5																			0				NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59						c.(3952-3954)Gtg>Atg		lemur tyrosine kinase 2							109.0	104.0	106.0					7																	97823729		2203	4300	6503	SO:0001583	missense	22853				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr7:97823729G>A	AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 100"""	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.3952G>A	7.37:g.97823729G>A	ENSP00000297293:p.Val1318Met						p.V1318M	NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN			11	4245	+	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)		1318					A4D272|Q75MG7|Q9UPS3	Missense_Mutation	SNP	ENST00000297293.5	37	c.3952G>A	CCDS5654.1	.	.	.	.	.	.	.	.	.	.	G	33	5.218403	0.95104	.	.	ENSG00000164715	ENST00000297293	D	0.87491	-2.26	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	D	0.94512	0.8233	M	0.86028	2.79	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94420	0.7640	10	0.87932	D	0	.	19.6516	0.95815	0.0:0.0:1.0:0.0	.	1318	Q8IWU2	LMTK2_HUMAN	M	1318	ENSP00000297293:V1318M	ENSP00000297293:V1318M	V	+	1	0	LMTK2	97661665	1.000000	0.71417	0.942000	0.38095	0.900000	0.52787	9.420000	0.97426	2.894000	0.99253	0.655000	0.94253	GTG		0.637	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916		24	327	0	0	0	1	0	24	327				
ZNF189	7743	broad.mit.edu	37	9	104171753	104171753	+	Missense_Mutation	SNP	A	A	G	rs200753298		TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr9:104171753A>G	ENST00000339664.2	+	3	1832	c.1703A>G	c.(1702-1704)tAt>tGt	p.Y568C	ZNF189_ENST00000374861.3_Missense_Mutation_p.Y554C|ZNF189_ENST00000259395.4_Missense_Mutation_p.Y526C	NM_001278240.1	NP_001265169.1	O75820	ZN189_HUMAN	zinc finger protein 189	568					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|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)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				GAGAAACCTTATAAGTGTGAG	0.433													A|||	1	0.000199681	0.0	0.0	5008	,	,		20055	0.0		0.0	False		,,,				2504	0.001					ENST00000374861.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26						c.(1660-1662)tAt>tGt		zinc finger protein 189		A	CYS/TYR,CYS/TYR	0,4406		0,0,2203	69.0	72.0	71.0		1703,1577	4.6	1.0	9		71	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	ZNF189	NM_003452.2,NM_197977.1	194,194	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	probably-damaging,probably-damaging	568/627,526/585	104171753	1,13005	2203	4300	6503	SO:0001583	missense	7743				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:104171753A>G	AF025770	CCDS6754.1, CCDS6755.1, CCDS65096.1, CCDS75867.1	9q22-q31	2013-01-08			ENSG00000136870	ENSG00000136870		"""Zinc fingers, C2H2-type"", ""-"""	12980	protein-coding gene	gene with protein product		603132				9653648	Standard	NM_003452		Approved		uc004bbh.2	O75820	OTTHUMG00000020383	ENST00000339664.2:c.1703A>G	9.37:g.104171753A>G	ENSP00000342019:p.Tyr568Cys					ZNF189_ENST00000259395.4_Missense_Mutation_p.Y526C|ZNF189_ENST00000339664.2_Missense_Mutation_p.Y568C	p.Y554C	NM_001278231.1|NM_001278232.1|NM_003452.2	NP_001265160.1|NP_001265161.1|NP_003443.2	O75820	ZN189_HUMAN			3	1945	+		Acute lymphoblastic leukemia(62;0.0559)	568					O75802|Q5T7D7|Q5T7D8|Q5T7D9|Q9UBL4|Q9UPE9|Q9UPF0|Q9UPF1	Missense_Mutation	SNP	ENST00000339664.2	37	c.1661A>G	CCDS6754.1	.	.	.	.	.	.	.	.	.	.	A	13.29	2.193447	0.38707	0.0	1.16E-4	ENSG00000136870	ENST00000374861;ENST00000339664;ENST00000259395	T;T;T	0.25414	1.8;1.8;1.8	4.59	4.59	0.56863	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42420	D	0.000711	T	0.53690	0.1812	M	0.86097	2.795	0.38916	D	0.957644	D;D;D	0.89917	1.0;1.0;0.995	D;D;P	0.97110	0.999;1.0;0.866	T	0.63466	-0.6631	10	0.87932	D	0	.	12.603	0.56506	1.0:0.0:0.0:0.0	.	553;554;568	B7ZLK9;Q5T7D8;O75820	.;.;ZN189_HUMAN	C	554;568;526	ENSP00000363995:Y554C;ENSP00000342019:Y568C;ENSP00000259395:Y526C	ENSP00000259395:Y526C	Y	+	2	0	ZNF189	103211574	0.005000	0.15991	1.000000	0.80357	0.996000	0.88848	0.356000	0.20181	2.288000	0.76882	0.528000	0.53228	TAT		0.433	ZNF189-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053447.1	NM_003452		38	32	0	0	0	1	0	38	32				
KRTAP10-6	386674	broad.mit.edu	37	21	46012302	46012302	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr21:46012302G>A	ENST00000400368.1	-	1	84	c.64C>T	c.(64-66)Cct>Tct	p.P22S	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	22						keratin filament (GO:0045095)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						CAGGAACCAGGAAGGCAGACG	0.677																																						ENST00000400368.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						c.(64-66)Cct>Tct		keratin associated protein 10-6							52.0	58.0	56.0					21																	46012302		2113	4234	6347	SO:0001583	missense	386674					keratin filament		g.chr21:46012302G>A	AB076353	CCDS42959.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000188155	ENSG00000188155		"""Keratin associated proteins"""	20523	protein-coding gene	gene with protein product			"""keratin associated protein 18-6"""	KRTAP18-6			Standard	NM_198688		Approved	KRTAP18.6, KAP18.6, KAP10.6	uc002zfm.3	P60371	OTTHUMG00000057634	ENST00000400368.1:c.64C>T	21.37:g.46012302G>A	ENSP00000383219:p.Pro22Ser					TSPEAR_ENST00000323084.4_Intron	p.P22S	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN			1	84	-			22						Missense_Mutation	SNP	ENST00000400368.1	37	c.64C>T	CCDS42959.1	.	.	.	.	.	.	.	.	.	.	g	5.780	0.328316	0.10956	.	.	ENSG00000188155	ENST00000400368	T	0.00940	5.52	3.23	1.11	0.20524	.	.	.	.	.	T	0.01870	0.0059	M	0.73962	2.25	0.09310	N	1	B	0.26081	0.141	B	0.28011	0.085	T	0.29397	-1.0013	9	0.62326	D	0.03	.	10.3354	0.43847	0.0:0.3846:0.6154:0.0	.	22	P60371	KR106_HUMAN	S	22	ENSP00000383219:P22S	ENSP00000383219:P22S	P	-	1	0	KRTAP10-6	44836730	0.946000	0.32159	0.057000	0.19452	0.003000	0.03518	2.056000	0.41355	0.468000	0.27243	-0.291000	0.09656	CCT		0.677	KRTAP10-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128037.1	NM_198688		3	46	0	0	0	1	0	3	46				
CREBBP	1387	broad.mit.edu	37	16	3900762	3900762	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr16:3900762T>C	ENST00000262367.5	-	2	1143	c.334A>G	c.(334-336)Atg>Gtg	p.M112V	CREBBP_ENST00000382070.3_Missense_Mutation_p.M112V	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	112					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		AGGCTGGCCATGTTAGCACTG	0.637			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															ENST00000262367.5				Dom/Rec	yes		16	16p13.3	1387	"""T, N, F, Mis, O"""	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	"""MLL, MORF, RUNXBP2"""		"""ALL, AML, DLBCL, B-NHL """		0				NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295						c.(334-336)Atg>Gtg		CREB binding protein							42.0	41.0	42.0					16																	3900762		2197	4300	6497	SO:0001583	missense	1387				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3900762T>C	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.334A>G	16.37:g.3900762T>C	ENSP00000262367:p.Met112Val					CREBBP_ENST00000382070.3_Missense_Mutation_p.M112V	p.M112V	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	2	1143	-		Ovarian(90;0.0266)	112					D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	c.334A>G	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	T	0.508	-0.867718	0.02590	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.82893	-1.66;-1.56	5.87	2.25	0.28309	.	0.327027	0.33854	N	0.004500	T	0.71143	0.3305	L	0.46157	1.445	0.19575	N	0.999963	B;B	0.24186	0.018;0.099	B;B	0.25291	0.059;0.028	T	0.53479	-0.8433	10	0.20046	T	0.44	-11.1502	2.6916	0.05122	0.361:0.0653:0.1252:0.4485	.	180;112	Q4LE28;Q92793	.;CBP_HUMAN	V	112;180;112	ENSP00000262367:M112V;ENSP00000371502:M112V	ENSP00000262367:M112V	M	-	1	0	CREBBP	3840763	0.367000	0.25023	0.448000	0.26945	0.323000	0.28346	0.490000	0.22403	0.092000	0.17331	-0.344000	0.07964	ATG		0.637	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		16	45	0	0	0	1	0	16	45				
CHD2	1106	broad.mit.edu	37	15	93482923	93482923	+	Missense_Mutation	SNP	C	C	G	rs200830337		TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr15:93482923C>G	ENST00000394196.4	+	7	1735	c.667C>G	c.(667-669)Cgt>Ggt	p.R223G	CHD2_ENST00000557381.1_Missense_Mutation_p.R223G|CHD2_ENST00000536619.1_Missense_Mutation_p.R236G|CHD2_ENST00000420239.2_Missense_Mutation_p.R223G	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	223					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			AAGGCAGACTCGTCGAAGAGC	0.428																																						ENST00000394196.4																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47						c.(667-669)Cgt>Ggt		chromodomain helicase DNA binding protein 2							116.0	110.0	112.0					15																	93482923		2197	4298	6495	SO:0001583	missense	1106				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr15:93482923C>G	AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.667C>G	15.37:g.93482923C>G	ENSP00000377747:p.Arg223Gly					CHD2_ENST00000420239.2_Missense_Mutation_p.R223G|CHD2_ENST00000557381.1_Missense_Mutation_p.R223G|CHD2_ENST00000536619.1_Missense_Mutation_p.R236G	p.R223G	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)		7	1735	+	Lung NSC(78;0.00976)|all_lung(78;0.016)		223					C6G482|Q96IP5	Missense_Mutation	SNP	ENST00000394196.4	37	c.667C>G	CCDS10374.2	.	.	.	.	.	.	.	.	.	.	C	22.5	4.291715	0.80914	.	.	ENSG00000173575	ENST00000394196;ENST00000557381;ENST00000420239;ENST00000536619	D;D;T;T	0.90563	-2.69;-2.67;0.71;0.69	5.11	5.11	0.69529	.	0.000000	0.33813	U	0.004532	D	0.94265	0.8158	M	0.69823	2.125	0.58432	D	0.999999	P;D;P;D	0.63880	0.942;0.993;0.933;0.993	P;D;P;D	0.74023	0.735;0.982;0.753;0.982	D	0.94127	0.7385	10	0.59425	D	0.04	-16.397	13.6646	0.62387	0.1544:0.8456:0.0:0.0	.	236;223;223;223	B7Z3I4;O14647;O14647-2;Q6AI05	.;CHD2_HUMAN;.;.	G	223;223;223;236	ENSP00000377747:R223G;ENSP00000451366:R223G;ENSP00000406581:R223G;ENSP00000443618:R236G	ENSP00000377747:R223G	R	+	1	0	CHD2	91283927	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.086000	0.64474	2.664000	0.90586	0.563000	0.77884	CGT		0.428	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271		30	48	0	0	0	1	0	30	48				
PCDH8	5100	broad.mit.edu	37	13	53422460	53422460	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr13:53422460C>G	ENST00000377942.3	-	1	315	c.112G>C	c.(112-114)Gag>Cag	p.E38Q	PCDH8_ENST00000338862.4_Missense_Mutation_p.E38Q	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	38	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|morphogenesis of embryonic epithelium (GO:0016331)|somitogenesis (GO:0001756)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		GCATCCTCCTCGAAGGTGCTG	0.597																																					GBM(36;25 841 9273 49207)	ENST00000377942.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36						c.(112-114)Gag>Cag		protocadherin 8							91.0	84.0	86.0					13																	53422460		2203	4300	6503	SO:0001583	missense	5100				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding	g.chr13:53422460C>G	AF061573	CCDS9438.1, CCDS9439.1	13q21.1	2010-02-22			ENSG00000136099	ENSG00000136099		"""Cadherins / Protocadherins : Non-clustered"""	8660	protein-coding gene	gene with protein product		603580				9787079, 9315676	Standard	NM_002590		Approved	PAPC, ARCADLIN	uc001vhi.3	O95206	OTTHUMG00000016979	ENST00000377942.3:c.112G>C	13.37:g.53422460C>G	ENSP00000367177:p.Glu38Gln					PCDH8_ENST00000338862.4_Missense_Mutation_p.E38Q	p.E38Q	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN		GBM - Glioblastoma multiforme(99;2.19e-08)	1	315	-		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	38			Cadherin 1.		B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	Missense_Mutation	SNP	ENST00000377942.3	37	c.112G>C	CCDS9438.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.625718	0.87560	.	.	ENSG00000136099	ENST00000377942;ENST00000338862;ENST00000418407;ENST00000448969	T;T	0.60424	0.19;0.19	5.43	5.43	0.79202	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	0.000000	0.44688	D	0.000436	D	0.85902	0.5805	H	0.97918	4.105	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91144	0.4948	10	0.87932	D	0	.	19.258	0.93955	0.0:1.0:0.0:0.0	.	38;38	O95206-2;O95206	.;PCDH8_HUMAN	Q	38	ENSP00000367177:E38Q;ENSP00000341350:E38Q	ENSP00000341350:E38Q	E	-	1	0	PCDH8	52320461	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.783000	0.85696	2.554000	0.86153	0.655000	0.94253	GAG		0.597	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045108.2	NM_002590		48	48	0	0	0	1	0	48	48				
DNMT3A	1788	broad.mit.edu	37	2	25457210	25457210	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr2:25457210A>G	ENST00000264709.3	-	23	3014	c.2677T>C	c.(2677-2679)Tgg>Cgg	p.W893R	DNMT3A_ENST00000380746.4_Missense_Mutation_p.W704R|DNMT3A_ENST00000321117.5_Missense_Mutation_p.W893R|DNMT3A_ENST00000402667.1_Missense_Mutation_p.W670R|DNMT3A_ENST00000474887.1_5'Flank	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	893	S-adenosyl-L-methionine binding. {ECO:0000305}.|SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)	p.W893R(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCACGCTCCATGACCGGCCC	0.557			"""Mis, F, N, S"""		AML																																	ENST00000264709.3				Rec	yes		2	2p23	1788	"""Mis, F, N, S"""	DNA (cytosine-5-)-methyltransferase 3 alpha			L			AML		1	Substitution - Missense(1)	p.W893R(1)	haematopoietic_and_lymphoid_tissue(1)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021						c.(2677-2679)Tgg>Cgg		DNA (cytosine-5-)-methyltransferase 3 alpha							66.0	61.0	63.0					2																	25457210		2203	4300	6503	SO:0001583	missense	1788				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	g.chr2:25457210A>G		CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.2677T>C	2.37:g.25457210A>G	ENSP00000264709:p.Trp893Arg					DNMT3A_ENST00000402667.1_Missense_Mutation_p.W670R|DNMT3A_ENST00000380746.4_Missense_Mutation_p.W704R|DNMT3A_ENST00000321117.5_Missense_Mutation_p.W893R	p.W893R	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN			23	3014	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		893					E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	ENST00000264709.3	37	c.2677T>C	CCDS33157.1	.	.	.	.	.	.	.	.	.	.	A	18.51	3.638977	0.67130	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	D;D;D;D	0.97114	-4.25;-4.25;-4.25;-4.25	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.98535	0.9511	M	0.87827	2.91	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.99647	1.0990	10	0.87932	D	0	-6.7817	15.0001	0.71464	1.0:0.0:0.0:0.0	.	893;704	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	R	704;893;893;670	ENSP00000370122:W704R;ENSP00000324375:W893R;ENSP00000264709:W893R;ENSP00000384237:W670R	ENSP00000264709:W893R	W	-	1	0	DNMT3A	25310714	1.000000	0.71417	0.988000	0.46212	0.986000	0.74619	9.335000	0.96500	2.215000	0.71742	0.459000	0.35465	TGG		0.557	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		25	31	0	0	0	1	0	25	31				
CRACR2A	84766	broad.mit.edu	37	12	3757780	3757780	+	Splice_Site	SNP	C	C	A			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr12:3757780C>A	ENST00000252322.1	-	11	1515		c.e11-1		EFCAB4B_ENST00000444507.1_Splice_Site|EFCAB4B_ENST00000440314.2_Splice_Site	NM_032680.3	NP_116069.1	Q9BSW2	EFC4B_HUMAN							activation of store-operated calcium channel activity (GO:0032237)|immune system process (GO:0002376)|positive regulation of calcium ion transport (GO:0051928)|store-operated calcium entry (GO:0002115)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			GTACACTTCCCTGAGGAGGAG	0.627																																						ENST00000440314.2																			0				breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24						c.e11-1		EF-hand calcium binding domain 4B							44.0	37.0	39.0					12																	3757780		2203	4300	6503	SO:0001630	splice_region_variant	84766				activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding	g.chr12:3757780C>A																												ENST00000252322.1:c.1047-1G>T	12.37:g.3757780C>A						EFCAB4B_ENST00000252322.1_Splice_Site|EFCAB4B_ENST00000444507.1_Splice_Site		NM_001144958.1	NP_001138430.1	Q9BSW2	EFC4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)		11	1520	-								B4E1X0|B9EK63	Splice_Site	SNP	ENST00000252322.1	37		CCDS8522.1	.	.	.	.	.	.	.	.	.	.	c	13.91	2.377386	0.42105	.	.	ENSG00000130038	ENST00000440314;ENST00000535292;ENST00000444507;ENST00000252322	.	.	.	5.02	5.02	0.67125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8689	0.79091	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EFCAB4B	3628041	1.000000	0.71417	1.000000	0.80357	0.291000	0.27294	6.324000	0.72896	2.330000	0.79161	0.550000	0.68814	.		0.627	EFCAB4B-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398673.1		Intron	7	19	1	0	0.00448238	1	0.0045575	7	19				
KCNRG	283518	broad.mit.edu	37	13	50594352	50594352	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr13:50594352A>T	ENST00000312942.1	+	2	821	c.581A>T	c.(580-582)tAt>tTt	p.Y194F	TRIM13_ENST00000478111.1_3'UTR|KCNRG_ENST00000360473.4_Missense_Mutation_p.M227L	NM_173605.1	NP_775876.1	Q8N5I3	KCNRG_HUMAN	potassium channel regulator	194					protein homooligomerization (GO:0051260)	endoplasmic reticulum (GO:0005783)	identical protein binding (GO:0042802)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.48e-10)|COAD - Colon adenocarcinoma(199;0.204)		TGTCCTAGGTATGTTTCTATA	0.353																																						ENST00000360473.4																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9						c.(679-681)Atg>Ttg		potassium channel regulator							59.0	59.0	59.0					13																	50594352		2203	4300	6503	SO:0001583	missense	283518					voltage-gated potassium channel complex	identical protein binding|voltage-gated potassium channel activity	g.chr13:50594352A>T		CCDS9424.1, CCDS41889.1	13q14.11	2008-05-02			ENSG00000198553	ENSG00000198553			18893	protein-coding gene	gene with protein product							Standard	NM_173605		Approved		uc001vdu.3	Q8N5I3	OTTHUMG00000140140	ENST00000312942.1:c.581A>T	13.37:g.50594352A>T	ENSP00000324191:p.Tyr194Phe					TRIM13_ENST00000478111.1_3'UTR|KCNRG_ENST00000312942.1_Missense_Mutation_p.Y194F	p.M227L	NM_199464.2	NP_955751.1	Q8N5I3	KCNRG_HUMAN		GBM - Glioblastoma multiforme(99;1.48e-10)|COAD - Colon adenocarcinoma(199;0.204)	3	919	+		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	0					A2A2X9|Q0P6D0|Q8IU75|Q8N3Q9	Missense_Mutation	SNP	ENST00000312942.1	37	c.679A>T	CCDS9424.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.45|17.45	3.392431|3.392431	0.62066|0.62066	.|.	.|.	ENSG00000198553|ENSG00000198553	ENST00000360473|ENST00000312942	T|T	0.13307|0.58060	2.6|0.36	5.49|5.49	5.49|5.49	0.81192|0.81192	.|.	.|0.000000	.|0.64402	.|D	.|0.000002	T|T	0.73040|0.73040	0.3536|0.3536	.|.	.|.	.|.	0.39874|0.39874	D|D	0.973543|0.973543	B|D	0.28850|0.76494	0.225|0.999	B|D	0.20955|0.80764	0.032|0.994	T|T	0.77811|0.77811	-0.2449|-0.2449	8|9	0.87932|0.62326	D|D	0|0.03	.|.	15.5922|15.5922	0.76543|0.76543	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	227|194	Q8N5I3-2|Q8N5I3	.|KCNRG_HUMAN	L|F	227|194	ENSP00000353661:M227L|ENSP00000324191:Y194F	ENSP00000353661:M227L|ENSP00000324191:Y194F	M|Y	+|+	1|2	0|0	KCNRG|KCNRG	49492353|49492353	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.916000|0.916000	0.54674|0.54674	7.068000|7.068000	0.76748|0.76748	2.099000|2.099000	0.63709|0.63709	0.455000|0.455000	0.32223|0.32223	ATG|TAT		0.353	KCNRG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276308.1			6	15	0	0	0	1	0	6	15				
PTOV1	53635	broad.mit.edu	37	19	50357788	50357788	+	Silent	SNP	C	C	T			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr19:50357788C>T	ENST00000601675.1	+	2	401	c.297C>T	c.(295-297)ctC>ctT	p.L99L	PTOV1_ENST00000221557.9_Silent_p.L67L|PTOV1_ENST00000599732.1_Silent_p.L99L|PTOV1_ENST00000601638.1_Silent_p.L67L|PTOV1_ENST00000600603.1_Silent_p.L67L|AC018766.6_ENST00000601211.1_RNA|PTOV1_ENST00000391842.1_Silent_p.L99L|AC018766.5_ENST00000593654.1_RNA|PTOV1-AS1_ENST00000596521.1_RNA|PTOV1_ENST00000598325.1_3'UTR|MIR4749_ENST00000578197.1_RNA			Q86YD1	PTOV1_HUMAN	prostate tumor overexpressed 1	99					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)	16		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		GCGGCGTCCTCGAGTGGCAGG	0.672																																						ENST00000391842.1																			0				endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)	16						c.(295-297)ctC>ctT		prostate tumor overexpressed 1							34.0	38.0	37.0					19																	50357788		2203	4299	6502	SO:0001819	synonymous_variant	53635				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|plasma membrane		g.chr19:50357788C>T	AF238381	CCDS12782.1	19q13.33	2014-08-28	2008-09-12		ENSG00000104960	ENSG00000104960			9632	protein-coding gene	gene with protein product		610195				12598323, 15713644	Standard	XM_005258998		Approved		uc002pqf.1	Q86YD1	OTTHUMG00000183162	ENST00000601675.1:c.297C>T	19.37:g.50357788C>T						PTOV1_ENST00000599732.1_Silent_p.L99L|PTOV1_ENST00000598325.1_3'UTR|PTOV1_ENST00000601675.1_Silent_p.L99L|PTOV1_ENST00000601638.1_Silent_p.L67L|AC018766.6_ENST00000601211.1_RNA|PTOV1_ENST00000600603.1_Silent_p.L67L|PTOV1_ENST00000221557.9_Silent_p.L67L	p.L99L	NM_017432.3	NP_059128.2	Q86YD1	PTOV1_HUMAN		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)	2	467	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	99					Q6UXX7|Q96BU3|Q9HBN4|Q9NYL1	Silent	SNP	ENST00000601675.1	37	c.297C>T	CCDS12782.1																																																																																				0.672	PTOV1-007	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465347.1	NM_017432		22	51	0	0	0	1	0	22	51				
UFL1	23376	broad.mit.edu	37	6	96969791	96969791	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr6:96969791C>A	ENST00000369278.4	+	1	108	c.42C>A	c.(40-42)gaC>gaA	p.D14E	UFL1-AS1_ENST00000430796.1_RNA|UFL1_ENST00000461673.1_3'UTR	NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN	UFM1-specific ligase 1	14	Required for E3 UFM1-protein ligase activity.				negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein ufmylation (GO:0071569)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	UFM1 conjugating enzyme activity (GO:0071568)										TGGCGGCCGACTTCCAGCGGG	0.662																																						ENST00000369278.4																			0											c.(40-42)gaC>gaA		UFM1-specific ligase 1							21.0	23.0	22.0					6																	96969791		2199	4299	6498	SO:0001583	missense	23376				negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	protein binding|UFM1 conjugating enzyme activity	g.chr6:96969791C>A	BC036379	CCDS5034.1	6q16.3	2011-08-18	2011-08-18	2011-08-18	ENSG00000014123	ENSG00000014123			23039	protein-coding gene	gene with protein product	"""novel LZAP-binding protein"", ""Regulator of CDK5RAP3 and DDRGK1"""	613372	"""KIAA0776"""	KIAA0776		20018847, 20164180, 20228063, 20531390	Standard	NM_015323		Approved	NLBP, Maxer, RCAD	uc003por.3	O94874	OTTHUMG00000015238	ENST00000369278.4:c.42C>A	6.37:g.96969791C>A	ENSP00000358283:p.Asp14Glu					UFL1_ENST00000461673.1_3'UTR	p.D14E	NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN			1	108	+			14			Required for E3 UFM1-protein ligase activity.		A0PJ53|B4DJ57|C0H5X5|Q8N765|Q9NTQ0	Missense_Mutation	SNP	ENST00000369278.4	37	c.42C>A	CCDS5034.1	.	.	.	.	.	.	.	.	.	.	C	17.72	3.458658	0.63401	.	.	ENSG00000014123	ENST00000369278	T	0.43294	0.95	4.49	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.18087	0.0434	L	0.41356	1.27	0.54753	D	0.999988	P	0.48834	0.916	P	0.48141	0.568	T	0.05131	-1.0904	10	0.12430	T	0.62	-12.8731	7.0217	0.24918	0.0:0.5506:0.0:0.4494	.	14	O94874	UFL1_HUMAN	E	14	ENSP00000358283:D14E	ENSP00000358283:D14E	D	+	3	2	KIAA0776	97076512	0.932000	0.31603	1.000000	0.80357	0.990000	0.78478	-0.006000	0.12833	0.520000	0.28426	-0.253000	0.11424	GAC		0.662	UFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041557.1	NM_015323		4	15	1	0	0.00909568	1	0.00914593	4	15				
CDH23	64072	broad.mit.edu	37	10	73551006	73551006	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr10:73551006T>C	ENST00000224721.6	+	46	6187	c.6182T>C	c.(6181-6183)cTc>cCc	p.L2061P		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2056	Cadherin 19. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GCCCACCTGCTCATCACCATC	0.602																																						ENST00000224721.6																			0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(6181-6183)cTc>cCc		cadherin-related 23							63.0	70.0	67.0					10																	73551006		2195	4292	6487	SO:0001583	missense	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73551006T>C	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.6182T>C	10.37:g.73551006T>C	ENSP00000224721:p.Leu2061Pro						p.L2061P	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN			46	6187	+			2056			Cadherin 19.		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37	c.6182T>C		.	.	.	.	.	.	.	.	.	.	T	4.614	0.114059	0.08831	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721	.	.	.	5.64	4.44	0.53790	Cadherin (3);Cadherin-like (1);	0.380729	0.25400	N	0.030957	T	0.36386	0.0965	L	0.53617	1.68	0.19300	N	0.999978	B	0.26120	0.142	B	0.35607	0.206	T	0.29088	-1.0023	9	0.36615	T	0.2	.	2.2949	0.04147	0.1448:0.1076:0.1509:0.5967	.	2056	Q9H251	CAD23_HUMAN	P	2061;2056;2059	.	ENSP00000224721:L2061P	L	+	2	0	CDH23	73221012	0.006000	0.16342	0.007000	0.13788	0.012000	0.07955	1.987000	0.40687	2.146000	0.66826	0.379000	0.24179	CTC		0.602	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		3	26	0	0	0	1	0	3	26				
TP53	7157	broad.mit.edu	37	17	7577098	7577098	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr17:7577098T>A	ENST00000269305.4	-	8	1029	c.840A>T	c.(838-840)agA>agT	p.R280S	TP53_ENST00000455263.2_Missense_Mutation_p.R280S|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R280S|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R280S|TP53_ENST00000359597.4_Missense_Mutation_p.R280S	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	280	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> I (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1694291}.|R -> P (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> T (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1631151}.		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.R280S(15)|p.0?(8)|p.R280R(3)|p.?(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.D281fs*24(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)	TGCGCCGGTCTCTCCCAGGAC	0.542		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)	ENST00000420246.2		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"""		43	Substitution - Missense(15)|Deletion - In frame(9)|Whole gene deletion(8)|Deletion - Frameshift(6)|Substitution - coding silent(3)|Unknown(2)	p.R280S(15)|p.0?(8)|p.R280R(3)|p.?(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.D281fs*24(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)	upper_aerodigestive_tract(8)|urinary_tract(8)|haematopoietic_and_lymphoid_tissue(4)|oesophagus(4)|breast(4)|bone(4)|stomach(2)|central_nervous_system(2)|lung(2)|ovary(2)|liver(2)|large_intestine(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.(838-840)agA>agT	Other conserved DNA damage response genes	tumor protein p53							79.0	68.0	72.0					17																	7577098		2203	4300	6503	SO:0001583	missense	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.chr17:7577098T>A	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.840A>T	17.37:g.7577098T>A	ENSP00000269305:p.Arg280Ser	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_ENST00000455263.2_Missense_Mutation_p.R280S|TP53_ENST00000359597.4_Missense_Mutation_p.R280S|TP53_ENST00000269305.4_Missense_Mutation_p.R280S|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R280S	p.R280S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	972	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	280		R -> G (in sporadic cancers; somatic mutation).|R -> I (in sporadic cancers; somatic mutation).|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> T (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|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	Missense_Mutation	SNP	ENST00000269305.4	37	c.840A>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.288174	0.80803	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99865	-7.29;-7.29;-7.29;-7.29;-7.29;-7.29	5.13	2.88	0.33553	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	M	0.92649	3.33	0.58432	D	0.999997	P;D;D;P	0.89917	0.953;1.0;0.984;0.837	P;D;P;P	0.97110	0.876;1.0;0.875;0.877	D	0.98376	1.0556	10	0.87932	D	0	-21.0303	6.3042	0.21129	0.0:0.3109:0.0:0.6891	.	280;280;280;280	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	S	280;280;280;280;280;269;148	ENSP00000352610:R280S;ENSP00000269305:R280S;ENSP00000398846:R280S;ENSP00000391127:R280S;ENSP00000391478:R280S;ENSP00000425104:R148S	ENSP00000269305:R280S	R	-	3	2	TP53	7517823	0.663000	0.27448	1.000000	0.80357	0.977000	0.68977	-0.234000	0.09028	0.415000	0.25817	0.379000	0.24179	AGA		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		13	19	0	0	0	1	0	13	19				
MYB	4602	broad.mit.edu	37	6	135521286	135521286	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr6:135521286C>G	ENST00000367814.4	+	11	1596	c.1410C>G	c.(1408-1410)ttC>ttG	p.F470L	MYB_ENST00000442647.2_Missense_Mutation_p.F467L|MYB_ENST00000531845.1_3'UTR|MYB_ENST00000316528.8_Missense_Mutation_p.F470L|MYB_ENST00000534121.1_Missense_Mutation_p.F575L|MYB_ENST00000534044.1_Missense_Mutation_p.F470L|MYB_ENST00000528774.1_Missense_Mutation_p.F588L|MYB_ENST00000341911.5_Missense_Mutation_p.F591L|MYB_ENST00000533624.1_Missense_Mutation_p.F435L|MYB_ENST00000527615.1_Missense_Mutation_p.F470L|MYB_ENST00000525369.1_Missense_Mutation_p.F385L	NM_001161659.1|NM_005375.2	NP_001155131.1|NP_005366.2	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog	470					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|chromatin remodeling (GO:0006338)|embryonic digestive tract development (GO:0048566)|G1/S transition of mitotic cell cycle (GO:0000082)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of T-helper cell differentiation (GO:0045624)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|thymus development (GO:0048538)	nuclear matrix (GO:0016363)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		CTACACCATTCAAACATGCAC	0.363			T	NFIB	adenoid cystic carcinoma																																	ENST00000341911.5				Dom	yes		6	6q22-23	4602	T	v-myb myeloblastosis viral oncogene homolog			E	NFIB		adenoid cystic carcinoma		0				breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28						c.(1771-1773)ttC>ttG		v-myb avian myeloblastosis viral oncogene homolog							97.0	102.0	100.0					6																	135521286		2203	4300	6503	SO:0001583	missense	4602				blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding	g.chr6:135521286C>G		CCDS5174.1, CCDS47481.1, CCDS47482.1, CCDS55058.1, CCDS55059.1, CCDS55060.1, CCDS55061.1, CCDS55062.1	6q22-q23	2013-07-09	2013-07-09		ENSG00000118513	ENSG00000118513			7545	protein-coding gene	gene with protein product		189990				17599807	Standard	NM_001130172		Approved	c-myb	uc003qfh.3	P10242	OTTHUMG00000015629	ENST00000367814.4:c.1410C>G	6.37:g.135521286C>G	ENSP00000356788:p.Phe470Leu					MYB_ENST00000534044.1_Missense_Mutation_p.F470L|MYB_ENST00000316528.8_Missense_Mutation_p.F470L|MYB_ENST00000525369.1_Missense_Mutation_p.F385L|MYB_ENST00000527615.1_Missense_Mutation_p.F470L|MYB_ENST00000533624.1_Missense_Mutation_p.F435L|MYB_ENST00000528774.1_Missense_Mutation_p.F588L|MYB_ENST00000442647.2_Missense_Mutation_p.F467L|MYB_ENST00000531845.1_3'UTR|MYB_ENST00000534121.1_Missense_Mutation_p.F575L|MYB_ENST00000367814.4_Missense_Mutation_p.F470L	p.F591L	NM_001130173.1|NM_001161656.1|NM_001161658.1	NP_001123645.1|NP_001155128.1|NP_001155130.1	P10242	MYB_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)	12	1972	+	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)	509					E9PI07|E9PLZ5|E9PNA4|E9PNL6|E9PRS2|P78391|P78392|P78525|P78526|Q14023|Q14024|Q708E4|Q708E7|Q9UE83	Missense_Mutation	SNP	ENST00000367814.4	37	c.1773C>G	CCDS5174.1	.	.	.	.	.	.	.	.	.	.	C	16.08	3.021342	0.54576	.	.	ENSG00000118513	ENST00000341911;ENST00000442647;ENST00000316528;ENST00000237302;ENST00000367814;ENST00000527615;ENST00000525369;ENST00000528774;ENST00000534121;ENST00000534044;ENST00000533624	T;T;T;T;T;T;T;T;T;T	0.61274	0.12;0.12;0.12;0.12;0.12;0.12;0.12;0.12;0.12;0.12	5.8	4.03	0.46877	C-myb, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.69922	0.3165	M	0.86864	2.845	0.51767	D	0.999933	B;B;B;D;D;D;D;B;B	0.76494	0.008;0.017;0.009;0.995;0.992;0.999;0.993;0.145;0.017	B;B;B;D;D;D;D;B;B	0.87578	0.015;0.046;0.013;0.994;0.987;0.998;0.99;0.137;0.046	T	0.74518	-0.3639	10	0.59425	D	0.04	-11.531	10.478	0.44676	0.0:0.7926:0.0:0.2074	.	435;470;467;588;385;575;591;470;470	E9PI07;E9PLZ5;P10242-2;E9PNL6;E9PRS2;E9PNA4;P10242-4;P10242;Q708E1	.;.;.;.;.;.;.;MYB_HUMAN;.	L	591;467;470;470;470;470;385;588;575;470;435	ENSP00000339992:F591L;ENSP00000410825:F467L;ENSP00000326328:F470L;ENSP00000356788:F470L;ENSP00000433227:F470L;ENSP00000435938:F385L;ENSP00000434723:F588L;ENSP00000432851:F575L;ENSP00000435055:F470L;ENSP00000436605:F435L	ENSP00000237302:F470L	F	+	3	2	MYB	135562979	1.000000	0.71417	0.999000	0.59377	0.836000	0.47400	2.180000	0.42537	0.807000	0.34208	0.655000	0.94253	TTC		0.363	MYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042347.4			35	82	0	0	0	1	0	35	82				
ZBTB8A	653121	broad.mit.edu	37	1	33059037	33059037	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr1:33059037G>C	ENST00000373510.4	+	3	734	c.505G>C	c.(505-507)Gag>Cag	p.E169Q	ZBTB8A_ENST00000316459.4_Missense_Mutation_p.E169Q|RP1-27O5.3_ENST00000480336.1_3'UTR	NM_001040441.1	NP_001035531.1	Q96BR9	ZBT8A_HUMAN	zinc finger and BTB domain containing 8A	169					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(2)|large_intestine(2)|lung(2)|prostate(1)	7						CCTAAGCCCAGAGCAAGGAAC	0.428																																						ENST00000373510.4																			0				cervix(2)|large_intestine(2)|lung(2)|prostate(1)	7						c.(505-507)Gag>Cag		zinc finger and BTB domain containing 8A							63.0	62.0	63.0					1																	33059037		2203	4300	6503	SO:0001583	missense	653121				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:33059037G>C	AF548353	CCDS30664.1	1p34.3	2013-01-08	2009-03-25	2009-03-25	ENSG00000160062	ENSG00000160062		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	24172	protein-coding gene	gene with protein product			"""zinc finger and BTB domain containing 8"""	ZBTB8		12477932	Standard	NM_001040441		Approved	BOZF1, FLJ90065, ZNF916A	uc001bvn.3	Q96BR9	OTTHUMG00000007855	ENST00000373510.4:c.505G>C	1.37:g.33059037G>C	ENSP00000362609:p.Glu169Gln					ZBTB8A_ENST00000316459.4_Missense_Mutation_p.E169Q|RP1-27O5.3_ENST00000480336.1_3'UTR	p.E169Q	NM_001040441.1	NP_001035531.1	Q96BR9	ZBT8A_HUMAN			3	734	+			169					Q8IUL5|Q8IWR9|Q8N2Y5|Q96BX0	Missense_Mutation	SNP	ENST00000373510.4	37	c.505G>C	CCDS30664.1	.	.	.	.	.	.	.	.	.	.	G	12.56	1.974421	0.34848	.	.	ENSG00000160062	ENST00000373510;ENST00000316459	T;T	0.14391	2.58;2.51	5.41	5.41	0.78517	.	0.528787	0.18313	U	0.145040	T	0.09291	0.0229	N	0.08118	0	0.38457	D	0.947105	B;B	0.27380	0.177;0.011	B;B	0.28553	0.091;0.01	T	0.39165	-0.9627	10	0.21540	T	0.41	-7.8897	18.571	0.91135	0.0:0.0:1.0:0.0	.	169;169	Q96BR9;D3DPQ1	ZBT8A_HUMAN;.	Q	169	ENSP00000362609:E169Q;ENSP00000317561:E169Q	ENSP00000317561:E169Q	E	+	1	0	ZBTB8A	32831624	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.147000	0.77382	2.699000	0.92147	0.650000	0.86243	GAG		0.428	ZBTB8A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021665.2	NM_144621		22	55	0	0	0	1	0	22	55				
HAO1	54363	broad.mit.edu	37	20	7920950	7920950	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr20:7920950A>T	ENST00000378789.3	-	1	171	c.120T>A	c.(118-120)aaT>aaA	p.N40K		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	40	FMN hydroxy acid dehydrogenase. {ECO:0000255|PROSITE-ProRule:PRU00683}.				cellular nitrogen compound metabolic process (GO:0034641)|fatty acid alpha-oxidation (GO:0001561)|glycolate catabolic process (GO:0046296)|glyoxylate metabolic process (GO:0046487)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	(S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|glycolate oxidase activity (GO:0008891)|glyoxylate oxidase activity (GO:0047969)|long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity (GO:0052853)|medium-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052854)|receptor binding (GO:0005102)|very-long-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052852)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						ATGCTGCAATATTATCAGCCA	0.308																																						ENST00000378789.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(118-120)aaT>aaA		hydroxyacid oxidase (glycolate oxidase) 1							58.0	56.0	56.0					20																	7920950		2203	4300	6503	SO:0001583	missense	54363				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity	g.chr20:7920950A>T	AL021879	CCDS13100.1	20p12	2005-01-10			ENSG00000101323	ENSG00000101323	1.1.3.15		4809	protein-coding gene	gene with protein product		605023		GOX1		9891009	Standard	NM_017545		Approved	GOX	uc002wmw.1	Q9UJM8	OTTHUMG00000031841	ENST00000378789.3:c.120T>A	20.37:g.7920950A>T	ENSP00000368066:p.Asn40Lys						p.N40K	NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN			1	171	-			40			FMN hydroxy acid dehydrogenase.		Q14CQ0|Q9UPZ0|Q9Y3I7	Missense_Mutation	SNP	ENST00000378789.3	37	c.120T>A	CCDS13100.1	.	.	.	.	.	.	.	.	.	.	A	15.42	2.827839	0.50845	.	.	ENSG00000101323	ENST00000378789	T	0.48201	0.82	5.16	0.19	0.15125	Aldolase-type TIM barrel (1);FMN-dependent dehydrogenase (1);	0.043429	0.85682	D	0.000000	T	0.77267	0.4105	H	0.99026	4.405	0.52099	D	0.999942	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.77851	-0.2434	10	0.87932	D	0	0.3185	9.0537	0.36392	0.6972:0.0:0.3027:0.0	.	40;40	A8K058;Q9UJM8	.;HAOX1_HUMAN	K	40	ENSP00000368066:N40K	ENSP00000368066:N40K	N	-	3	2	HAO1	7868950	0.969000	0.33509	0.071000	0.20095	0.724000	0.41520	2.332000	0.43903	-0.182000	0.10602	0.459000	0.35465	AAT		0.308	HAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077926.2			11	20	0	0	0	1	0	11	20				
CRY1	1407	broad.mit.edu	37	12	107395078	107395078	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr12:107395078C>T	ENST00000008527.5	-	5	1531	c.664G>A	c.(664-666)Gaa>Aaa	p.E222K		NM_004075.4	NP_004066.1	Q16526	CRY1_HUMAN	cryptochrome circadian clock 1	222					blue light signaling pathway (GO:0009785)|circadian regulation of gene expression (GO:0032922)|DNA damage induced protein phosphorylation (GO:0006975)|DNA repair (GO:0006281)|entrainment of circadian clock by photoperiod (GO:0043153)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|lipid storage (GO:0019915)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of glucocorticoid secretion (GO:2000850)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|regulation of DNA damage checkpoint (GO:2000001)|response to glucagon (GO:0033762)|response to insulin (GO:0032868)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	blue light photoreceptor activity (GO:0009882)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|DNA photolyase activity (GO:0003913)|double-stranded DNA binding (GO:0003690)|nuclear hormone receptor binding (GO:0035257)|nucleotide binding (GO:0000166)|phosphatase binding (GO:0019902)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin binding (GO:0043130)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						AAATGCCTTTCCAAACGAGTA	0.323																																						ENST00000008527.5																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						c.(664-666)Gaa>Aaa		cryptochrome 1 (photolyase-like)							100.0	103.0	102.0					12																	107395078		2203	4300	6503	SO:0001583	missense	1407				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding	g.chr12:107395078C>T	BC030519	CCDS9112.1	12q23-q24.1	2014-01-17	2014-01-17		ENSG00000008405	ENSG00000008405			2384	protein-coding gene	gene with protein product		601933	"""cryptochrome 1 (photolyase-like)"""	PHLL1		8921389	Standard	NM_004075		Approved		uc001tmi.4	Q16526	OTTHUMG00000170005	ENST00000008527.5:c.664G>A	12.37:g.107395078C>T	ENSP00000008527:p.Glu222Lys						p.E222K	NM_004075.3	NP_004066.1	Q16526	CRY1_HUMAN			5	1531	-			222			FAD-binding.			Missense_Mutation	SNP	ENST00000008527.5	37	c.664G>A	CCDS9112.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.169690	0.78452	.	.	ENSG00000008405	ENST00000008527	.	.	.	5.72	5.72	0.89469	DNA photolyase, FAD-binding/Cryptochrome, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.53802	0.1819	L	0.33624	1.015	0.80722	D	1	B	0.21071	0.051	B	0.21917	0.037	T	0.48490	-0.9031	9	0.41790	T	0.15	-21.98	16.1541	0.81644	0.1339:0.8661:0.0:0.0	.	222	Q16526	CRY1_HUMAN	K	222	.	ENSP00000008527:E222K	E	-	1	0	CRY1	105919208	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.799000	0.62517	2.695000	0.91970	0.557000	0.71058	GAA		0.323	CRY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406827.1	NM_004075		4	32	0	0	0	1	0	4	32				
OFD1	8481	broad.mit.edu	37	X	13767612	13767612	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chrX:13767612A>T	ENST00000340096.6	+	9	1222	c.895A>T	c.(895-897)Aga>Tga	p.R299*	OFD1_ENST00000398395.3_Nonsense_Mutation_p.R299*|OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000380567.1_Nonsense_Mutation_p.R159*|OFD1_ENST00000380550.3_Nonsense_Mutation_p.R299*	NM_003611.2	NP_003602.1	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	299					axoneme assembly (GO:0035082)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000314)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|gamma-tubulin binding (GO:0043015)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						GCTAAGAGGAAGAGAAGCAGA	0.299																																						ENST00000380567.1																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(475-477)Aga>Tga		oral-facial-digital syndrome 1							65.0	63.0	64.0					X																	13767612		2203	4298	6501	SO:0001587	stop_gained	8481				cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding	g.chrX:13767612A>T	Y15164	CCDS14157.1	Xp22	2014-06-18			ENSG00000046651	ENSG00000046651			2567	protein-coding gene	gene with protein product		300170	"""retinitis pigmentosa 23 (X-linked recessive)"""	CXorf5, RP23		9722947, 9215688, 22619378	Standard	NM_003611		Approved	71-7A, JBTS10	uc004cvp.4	O75665	OTTHUMG00000021159	ENST00000340096.6:c.895A>T	X.37:g.13767612A>T	ENSP00000344314:p.Arg299*					OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000398395.3_Nonsense_Mutation_p.R299*|OFD1_ENST00000340096.6_Nonsense_Mutation_p.R299*|OFD1_ENST00000380550.3_Nonsense_Mutation_p.R299*	p.R159*			O75665	OFD1_HUMAN			10	1347	+			299					B9ZVU5|O75666|Q4VAK4	Nonsense_Mutation	SNP	ENST00000340096.6	37	c.475A>T	CCDS14157.1	.	.	.	.	.	.	.	.	.	.	A	38	7.277759	0.98182	.	.	ENSG00000046651	ENST00000380550;ENST00000398395;ENST00000340096;ENST00000380567;ENST00000543598	.	.	.	5.66	1.69	0.24217	.	0.042575	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.6643	14.2389	0.65945	0.4439:0.5561:0.0:0.0	.	.	.	.	X	299;299;299;159;162	.	ENSP00000344314:R299X	R	+	1	2	OFD1	13677533	0.989000	0.36119	0.143000	0.22291	0.966000	0.64601	1.953000	0.40352	-0.073000	0.12842	0.486000	0.48141	AGA		0.299	OFD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055808.1	NM_003611		31	13	0	0	0	1	0	31	13				
FOXJ2	55810	broad.mit.edu	37	12	8197435	8197435	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr12:8197435A>G	ENST00000162391.3	+	6	1843	c.698A>G	c.(697-699)tAt>tGt	p.Y233C	FOXJ2_ENST00000428177.2_Missense_Mutation_p.Y233C	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	233					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		CCTCCCCTCTATAACACCAAC	0.507																																						ENST00000162391.3																			0				autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16						c.(697-699)tAt>tGt		forkhead box J2							183.0	180.0	181.0					12																	8197435		2203	4300	6503	SO:0001583	missense	55810				embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr12:8197435A>G	AF155132	CCDS8587.1	12p13.31	2006-12-15				ENSG00000065970		"""Forkhead boxes"""	24818	protein-coding gene	gene with protein product						10777590, 10966786	Standard	NM_018416		Approved	FHX	uc001qtu.3	Q9P0K8		ENST00000162391.3:c.698A>G	12.37:g.8197435A>G	ENSP00000162391:p.Tyr233Cys					FOXJ2_ENST00000428177.2_Missense_Mutation_p.Y233C	p.Y233C	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN		Kidney(36;0.0944)	6	1843	+			233					A0AVK4|B2RMP3|Q96PS9|Q9NSN5	Missense_Mutation	SNP	ENST00000162391.3	37	c.698A>G	CCDS8587.1	.	.	.	.	.	.	.	.	.	.	A	17.91	3.503700	0.64298	.	.	ENSG00000065970	ENST00000162391;ENST00000428177	D;D	0.95137	-3.46;-3.62	5.5	5.5	0.81552	.	0.396483	0.24072	N	0.041804	D	0.96355	0.8811	M	0.63843	1.955	0.49915	D	0.999832	D;D	0.89917	0.999;1.0	D;D	0.85130	0.994;0.997	D	0.96106	0.9073	10	0.49607	T	0.09	.	13.5556	0.61757	1.0:0.0:0.0:0.0	.	233;233	Q9P0K8;Q9P0K8-2	FOXJ2_HUMAN;.	C	233	ENSP00000162391:Y233C;ENSP00000403411:Y233C	ENSP00000162391:Y233C	Y	+	2	0	FOXJ2	8088702	1.000000	0.71417	0.996000	0.52242	0.987000	0.75469	6.066000	0.71185	2.102000	0.63906	0.402000	0.26972	TAT		0.507	FOXJ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400088.1	NM_018416		35	127	0	0	0	1	0	35	127				
HOOK2	29911	broad.mit.edu	37	19	12878892	12878892	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr19:12878892C>T	ENST00000397668.3	-	12	1223	c.1150G>A	c.(1150-1152)Gag>Aag	p.E384K	HOOK2_ENST00000264827.5_Missense_Mutation_p.E384K|HOOK2_ENST00000589965.1_Intron	NM_013312.2	NP_037444.2	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	384	Sufficient for interaction with microtubules.				early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	centrosome (GO:0005813)|FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						AGCCATTTCTCGGCCTTCATG	0.597																																						ENST00000264827.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						c.(1150-1152)Gag>Aag		hook microtubule-tethering protein 2							110.0	115.0	113.0					19																	12878892		1956	4135	6091	SO:0001583	missense	29911				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding	g.chr19:12878892C>T	AF044924	CCDS42507.1, CCDS42508.1	19p13.2	2013-08-21	2013-08-21						19885	protein-coding gene	gene with protein product		607824	"""hook homolog 2 (Drosophila)"""			9927460	Standard	NM_013312		Approved	HK2	uc002muy.2	Q96ED9		ENST00000397668.3:c.1150G>A	19.37:g.12878892C>T	ENSP00000380785:p.Glu384Lys					HOOK2_ENST00000589965.1_Intron|HOOK2_ENST00000397668.3_Missense_Mutation_p.E384K	p.E384K	NM_001100176.1	NP_001093646.1	Q96ED9	HOOK2_HUMAN			12	1320	-			384			Sufficient for interaction with microtubules.		O60562	Missense_Mutation	SNP	ENST00000397668.3	37	c.1150G>A	CCDS42508.1	.	.	.	.	.	.	.	.	.	.	C	35	5.481773	0.96307	.	.	ENSG00000095066	ENST00000397668;ENST00000264827	T;T	0.18502	2.21;2.21	5.36	5.36	0.76844	.	0.106711	0.64402	D	0.000008	T	0.37320	0.0999	L	0.55103	1.725	0.53688	D	0.999976	D;D	0.76494	0.999;0.999	P;D	0.66196	0.806;0.942	T	0.03315	-1.1049	10	0.52906	T	0.07	-12.8427	17.9112	0.88934	0.0:1.0:0.0:0.0	.	384;384	Q96ED9-2;Q96ED9	.;HOOK2_HUMAN	K	384	ENSP00000380785:E384K;ENSP00000264827:E384K	ENSP00000264827:E384K	E	-	1	0	HOOK2	12739892	1.000000	0.71417	0.995000	0.50966	0.967000	0.64934	6.914000	0.75764	2.515000	0.84797	0.456000	0.33151	GAG		0.597	HOOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451008.1	NM_013312		48	94	0	0	0	1	0	48	94				
RGS12	6002	broad.mit.edu	37	4	3415846	3415846	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr4:3415846A>G	ENST00000344733.5	+	5	2972	c.2068A>G	c.(2068-2070)Agc>Ggc	p.S690G	RGS12_ENST00000306648.7_Missense_Mutation_p.S88G|RGS12_ENST00000543385.1_3'UTR|RGS12_ENST00000382788.3_Missense_Mutation_p.S690G|RGS12_ENST00000338806.4_Missense_Mutation_p.S42G|RGS12_ENST00000538395.1_Missense_Mutation_p.S32G|RGS12_ENST00000508158.1_3'UTR|RGS12_ENST00000336727.3_Missense_Mutation_p.S690G	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	690					positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CAACAGCCTGAGCAGCAATGC	0.697																																						ENST00000336727.3																			0				autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(2068-2070)Agc>Ggc		regulator of G-protein signaling 12							26.0	26.0	26.0					4																	3415846		2182	4281	6463	SO:0001583	missense	6002					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity	g.chr4:3415846A>G	AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"""Regulators of G-protein signaling"""	9994	protein-coding gene	gene with protein product		602512	"""regulator of G-protein signalling 12"""			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.2068A>G	4.37:g.3415846A>G	ENSP00000339381:p.Ser690Gly					RGS12_ENST00000508158.1_3'UTR|RGS12_ENST00000382788.3_Missense_Mutation_p.S690G|RGS12_ENST00000344733.5_Missense_Mutation_p.S690G|RGS12_ENST00000338806.4_Missense_Mutation_p.S42G|RGS12_ENST00000306648.7_Missense_Mutation_p.S88G|RGS12_ENST00000543385.1_3'UTR|RGS12_ENST00000538395.1_Missense_Mutation_p.S32G	p.S690G	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	5	2972	+			690					B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Missense_Mutation	SNP	ENST00000344733.5	37	c.2068A>G	CCDS3366.1	.	.	.	.	.	.	.	.	.	.	A	18.12	3.552435	0.65311	.	.	ENSG00000159788	ENST00000344733;ENST00000336727;ENST00000382788;ENST00000306648;ENST00000338806;ENST00000538395	T;T;T;T;T;T	0.37584	1.52;1.52;1.52;1.19;1.2;1.19	4.27	4.27	0.50696	Regulator of G protein signalling superfamily (1);	0.049433	0.85682	D	0.000000	T	0.40473	0.1118	N	0.24115	0.695	0.45295	D	0.998297	B;P;P;D;P;P;P	0.58970	0.397;0.653;0.933;0.984;0.653;0.89;0.933	B;B;P;P;B;P;P	0.62813	0.164;0.313;0.839;0.907;0.256;0.625;0.792	T	0.13522	-1.0506	10	0.26408	T	0.33	-29.5272	12.8876	0.58053	1.0:0.0:0.0:0.0	.	32;32;32;42;88;690;690	B7Z764;B7Z8B8;O14924-2;O14924-3;Q8WX95;O14924;O14924-4	.;.;.;.;.;RGS12_HUMAN;.	G	690;690;690;88;42;32	ENSP00000339381:S690G;ENSP00000338509:S690G;ENSP00000372238:S690G;ENSP00000304459:S88G;ENSP00000342133:S42G;ENSP00000438888:S32G	ENSP00000304459:S88G	S	+	1	0	RGS12	3385644	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.896000	0.69822	1.701000	0.51217	0.533000	0.62120	AGC		0.697	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	NM_002926		3	5	0	0	0	1	0	3	5				
NLN	57486	broad.mit.edu	37	5	65077118	65077118	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr5:65077118T>A	ENST00000380985.5	+	6	870	c.692T>A	c.(691-693)tTa>tAa	p.L231*	NLN_ENST00000502464.1_Nonsense_Mutation_p.L127*	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN	neurolysin (metallopeptidase M3 family)	231						mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		ATTGACAGTTTAGAAAAGACA	0.338																																						ENST00000380985.5																			0				central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						c.(691-693)tTa>tAa		neurolysin (metallopeptidase M3 family)							69.0	71.0	71.0					5																	65077118		2203	4299	6502	SO:0001587	stop_gained	57486				proteolysis	mitochondrial intermembrane space	metal ion binding|metalloendopeptidase activity	g.chr5:65077118T>A	AJ300837	CCDS3989.1	5q12.3	2008-02-05	2005-03-31		ENSG00000123213	ENSG00000123213	3.4.24.16		16058	protein-coding gene	gene with protein product		611530	"""angiotensin binding protein"""	AGTBP		10574462	Standard	NM_020726		Approved	KIAA1226	uc003juf.3	Q9BYT8	OTTHUMG00000097803	ENST00000380985.5:c.692T>A	5.37:g.65077118T>A	ENSP00000370372:p.Leu231*					NLN_ENST00000502464.1_Nonsense_Mutation_p.L127*	p.L231*	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)	6	870	+		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)	231					Q9ULJ4	Nonsense_Mutation	SNP	ENST00000380985.5	37	c.692T>A	CCDS3989.1	.	.	.	.	.	.	.	.	.	.	T	39	7.455445	0.98296	.	.	ENSG00000123213	ENST00000380985;ENST00000502464;ENST00000340159	.	.	.	5.4	5.4	0.78164	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.9972	15.4241	0.75038	0.0:0.0:0.0:1.0	.	.	.	.	X	231;127;231	.	ENSP00000339283:L231X	L	+	2	0	NLN	65112874	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.698000	0.84413	2.044000	0.60594	0.533000	0.62120	TTA		0.338	NLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215060.1			14	9	0	0	0	1	0	14	9				
ACOT11	26027	broad.mit.edu	37	1	55062944	55062944	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr1:55062944G>C	ENST00000371316.3	+	7	702	c.620G>C	c.(619-621)aGa>aCa	p.R207T	ACOT11_ENST00000481208.1_3'UTR|ACOT11_ENST00000343744.2_Missense_Mutation_p.R207T	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	207	Acyl coenzyme A hydrolase 2.				fatty acid metabolic process (GO:0006631)|intracellular signal transduction (GO:0035556)|response to cold (GO:0009409)|response to temperature stimulus (GO:0009266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289)			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						CTGGAGAGCAGAGACTGTAGC	0.642																																					Ovarian(148;1440 1861 22015 32453 51933)	ENST00000371316.3																			0				NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						c.(619-621)aGa>aCa		acyl-CoA thioesterase 11							60.0	51.0	54.0					1																	55062944		2203	4300	6503	SO:0001583	missense	26027				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity	g.chr1:55062944G>C	AB014607	CCDS592.1, CCDS593.1	1p32.3	2011-09-13	2005-09-08	2005-09-08	ENSG00000162390	ENSG00000162390	3.1.2.-	"""Acyl CoA thioesterases"", ""StAR-related lipid transfer (START) domain containing"""	18156	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 14"""	606803	"""thioesterase, adipose associated"""	THEA		11696000, 16103133, 16940157	Standard	NM_015547		Approved	STARD14, BFIT, KIAA0707, BFIT1, THEM1	uc001cxl.2	Q8WXI4	OTTHUMG00000009891	ENST00000371316.3:c.620G>C	1.37:g.55062944G>C	ENSP00000360366:p.Arg207Thr					ACOT11_ENST00000481208.1_3'UTR|ACOT11_ENST00000343744.2_Missense_Mutation_p.R207T	p.R207T	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN			7	702	+			207			Acyl coenzyme A hydrolase 2.		B1AQ22|D3DQ50|O75187|Q52LP1|Q53ER9|Q96DI1|Q9H883	Missense_Mutation	SNP	ENST00000371316.3	37	c.620G>C	CCDS592.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.109162	0.37242	.	.	ENSG00000162390	ENST00000343744;ENST00000371316	T;T	0.10288	2.91;2.89	4.93	4.01	0.46588	.	0.363223	0.30850	N	0.008744	T	0.07863	0.0197	L	0.31294	0.92	0.23978	N	0.996288	B;B	0.16166	0.016;0.006	B;B	0.16722	0.011;0.016	T	0.36359	-0.9751	10	0.14252	T	0.57	-14.4296	10.7475	0.46189	0.0902:0.0:0.9098:0.0	.	207;207	Q8WXI4;Q8WXI4-2	ACO11_HUMAN;.	T	207	ENSP00000340260:R207T;ENSP00000360366:R207T	ENSP00000340260:R207T	R	+	2	0	ACOT11	54835532	1.000000	0.71417	0.995000	0.50966	0.959000	0.62525	2.981000	0.49329	1.056000	0.40484	0.549000	0.68633	AGA		0.642	ACOT11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027356.1	NM_015547		42	46	0	0	0	1	0	42	46				
BAI3	577	broad.mit.edu	37	6	70070781	70070781	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr6:70070781C>T	ENST00000370598.1	+	29	4437	c.3616C>T	c.(3616-3618)Cct>Tct	p.P1206S	BAI3_ENST00000238918.8_Missense_Mutation_p.P412S|BAI3_ENST00000546190.1_Missense_Mutation_p.P170S	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1206					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GGATATTGGTCCTTGCCGAGC	0.358																																						ENST00000370598.1																			0				NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210						c.(3616-3618)Cct>Tct		brain-specific angiogenesis inhibitor 3							81.0	84.0	83.0					6																	70070781		2203	4298	6501	SO:0001583	missense	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:70070781C>T	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.3616C>T	6.37:g.70070781C>T	ENSP00000359630:p.Pro1206Ser					BAI3_ENST00000546190.1_Missense_Mutation_p.P170S|BAI3_ENST00000238918.8_Missense_Mutation_p.P412S	p.P1206S	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN			29	4437	+		all_lung(197;0.212)	1206					B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	c.3616C>T	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	C	9.521	1.108345	0.20714	.	.	ENSG00000135298	ENST00000370598;ENST00000238918;ENST00000546190	T;T;T	0.39997	2.19;2.79;1.05	5.61	4.73	0.59995	.	0.107337	0.64402	D	0.000003	T	0.12050	0.0293	N	0.12182	0.205	0.45962	D	0.998788	B;B	0.11235	0.004;0.003	B;B	0.04013	0.001;0.001	T	0.07790	-1.0754	10	0.14252	T	0.57	.	16.4809	0.84157	0.0:0.8687:0.1313:0.0	.	412;1206	B7Z356;O60242	.;BAI3_HUMAN	S	1206;412;170	ENSP00000359630:P1206S;ENSP00000238918:P412S;ENSP00000441821:P170S	ENSP00000238918:P412S	P	+	1	0	BAI3	70127502	1.000000	0.71417	0.867000	0.34043	0.861000	0.49209	5.745000	0.68672	1.339000	0.45563	0.591000	0.81541	CCT		0.358	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			9	58	0	0	0	1	0	9	58				
LRCH3	84859	broad.mit.edu	37	3	197562650	197562650	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr3:197562650C>T	ENST00000425562.2	+	9	1208	c.1208C>T	c.(1207-1209)tCa>tTa	p.S403L	LRCH3_ENST00000441090.2_Intron|LRCH3_ENST00000438796.2_Missense_Mutation_p.S403L|LRCH3_ENST00000536618.1_5'UTR|LRCH3_ENST00000334859.4_Missense_Mutation_p.S403L|LRCH3_ENST00000414675.2_Intron			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	403						cytoplasm (GO:0005737)|extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		AGCCTTAGTTCACAGTTTATG	0.458																																						ENST00000438796.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1207-1209)tCa>tTa		leucine-rich repeats and calponin homology (CH) domain containing 3							176.0	162.0	167.0					3																	197562650		2203	4300	6503	SO:0001583	missense	84859					extracellular region		g.chr3:197562650C>T	AL137527	CCDS3330.1	3q29	2006-04-12			ENSG00000186001	ENSG00000186001			28637	protein-coding gene	gene with protein product						12477932	Standard	NM_032773		Approved	MGC4126	uc003fyj.1	Q96II8	OTTHUMG00000155378	ENST00000425562.2:c.1208C>T	3.37:g.197562650C>T	ENSP00000393579:p.Ser403Leu					LRCH3_ENST00000425562.2_Missense_Mutation_p.S403L|LRCH3_ENST00000414675.2_Intron|LRCH3_ENST00000334859.4_Missense_Mutation_p.S403L|LRCH3_ENST00000536618.1_5'UTR|LRCH3_ENST00000441090.2_Intron	p.S403L			Q96II8	LRCH3_HUMAN	Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)	9	1252	+	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		403					B4E0T7|Q96FP9|Q9NT52	Missense_Mutation	SNP	ENST00000425562.2	37	c.1208C>T		.	.	.	.	.	.	.	.	.	.	C	33	5.194118	0.94960	.	.	ENSG00000186001	ENST00000438796;ENST00000334859;ENST00000425562	T;T;T	0.22336	1.96;2.21;1.97	5.27	5.27	0.74061	.	0.073024	0.56097	D	0.000024	T	0.39226	0.1070	L	0.36672	1.1	0.80722	D	1	D;B	0.89917	1.0;0.235	D;B	0.77004	0.989;0.09	T	0.10064	-1.0646	10	0.54805	T	0.06	-5.4822	19.3016	0.94146	0.0:1.0:0.0:0.0	.	403;403	Q96II8-2;Q96II8-3	.;.	L	403	ENSP00000399751:S403L;ENSP00000334375:S403L;ENSP00000393579:S403L	ENSP00000334375:S403L	S	+	2	0	LRCH3	199047047	1.000000	0.71417	0.978000	0.43139	0.983000	0.72400	5.100000	0.64560	2.631000	0.89168	0.644000	0.83932	TCA		0.458	LRCH3-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000339965.1	NM_032773		34	58	0	0	0	1	0	34	58				
NLN	57486	broad.mit.edu	37	5	65077119	65077119	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr5:65077119A>T	ENST00000380985.5	+	6	871	c.693A>T	c.(691-693)ttA>ttT	p.L231F	NLN_ENST00000502464.1_Missense_Mutation_p.L127F	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN	neurolysin (metallopeptidase M3 family)	231						mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		TTGACAGTTTAGAAAAGACAG	0.338																																						ENST00000380985.5																			0				central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						c.(691-693)ttA>ttT		neurolysin (metallopeptidase M3 family)							70.0	72.0	71.0					5																	65077119		2203	4299	6502	SO:0001583	missense	57486				proteolysis	mitochondrial intermembrane space	metal ion binding|metalloendopeptidase activity	g.chr5:65077119A>T	AJ300837	CCDS3989.1	5q12.3	2008-02-05	2005-03-31		ENSG00000123213	ENSG00000123213	3.4.24.16		16058	protein-coding gene	gene with protein product		611530	"""angiotensin binding protein"""	AGTBP		10574462	Standard	NM_020726		Approved	KIAA1226	uc003juf.3	Q9BYT8	OTTHUMG00000097803	ENST00000380985.5:c.693A>T	5.37:g.65077119A>T	ENSP00000370372:p.Leu231Phe					NLN_ENST00000502464.1_Missense_Mutation_p.L127F	p.L231F	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)	6	871	+		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)	231					Q9ULJ4	Missense_Mutation	SNP	ENST00000380985.5	37	c.693A>T	CCDS3989.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.108400	0.77096	.	.	ENSG00000123213	ENST00000380985;ENST00000502464;ENST00000340159	T;T	0.53206	0.63;0.63	5.4	4.23	0.50019	Neurolysin/Thimet oligopeptidase, domain 2 (1);	0.000000	0.64402	D	0.000001	T	0.61160	0.2325	L	0.55990	1.75	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.58595	-0.7609	10	0.41790	T	0.15	-6.9972	11.3578	0.49625	0.9284:0.0:0.0716:0.0	.	231;231	Q9BYT8;Q9BQD0	NEUL_HUMAN;.	F	231;127;231	ENSP00000370372:L231F;ENSP00000423214:L127F	ENSP00000339283:L231F	L	+	3	2	NLN	65112875	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.855000	0.55957	0.878000	0.35920	0.533000	0.62120	TTA		0.338	NLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215060.1			14	9	0	0	0	1	0	14	9				
RFPL3	10738	broad.mit.edu	37	22	32756746	32756746	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr22:32756746G>A	ENST00000249007.4	+	2	1086	c.881G>A	c.(880-882)gGt>gAt	p.G294D	RFPL3S_ENST00000400234.1_Missense_Mutation_p.P98S|RFPL3_ENST00000397468.1_Missense_Mutation_p.G265D|RFPL3_ENST00000382088.3_Missense_Mutation_p.G265D|RFPL3S_ENST00000461833.1_5'UTR|RFPL3S_ENST00000382084.4_Missense_Mutation_p.P69S	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	294	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						GGTGATCAAGGTGTCTTGAGC	0.507																																						ENST00000249007.4																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						c.(880-882)gGt>gAt		ret finger protein-like 3							115.0	101.0	106.0					22																	32756746		2203	4300	6503	SO:0001583	missense	10738						zinc ion binding	g.chr22:32756746G>A	AJ010232	CCDS13904.1, CCDS43011.1	22q12	2006-04-25			ENSG00000128276	ENSG00000128276			9980	protein-coding gene	gene with protein product		605970				10508838	Standard	NM_006604		Approved		uc010gwn.3	O75679	OTTHUMG00000030290	ENST00000249007.4:c.881G>A	22.37:g.32756746G>A	ENSP00000249007:p.Gly294Asp					RFPL3_ENST00000382088.3_Missense_Mutation_p.G265D|RFPL3S_ENST00000461833.1_5'UTR|RFPL3S_ENST00000400234.1_Missense_Mutation_p.P98S|RFPL3S_ENST00000382084.4_Missense_Mutation_p.P69S|RFPL3_ENST00000397468.1_Missense_Mutation_p.G265D	p.G294D	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN			2	1086	+			294			B30.2/SPRY.		A2A279|Q6IC03|Q6IC04|Q6NSX3|Q8N5R4	Missense_Mutation	SNP	ENST00000249007.4	37	c.881G>A	CCDS43011.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.260|6.260	0.416040|0.416040	0.11870|0.11870	.|.	.|.	ENSG00000128276|ENSG00000205853	ENST00000397468;ENST00000249007;ENST00000382088|ENST00000382084;ENST00000400234	T;T;T|.	0.60920|.	0.15;0.15;0.15|.	0.704|0.704	-0.55|-0.55	0.11825|0.11825	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);|.	.|.	.|.	.|.	.|.	T|T	0.39226|0.39226	0.1070|0.1070	L|L	0.49126|0.49126	1.545|1.545	0.09310|0.09310	N|N	1|1	B|.	0.30686|.	0.29|.	B|.	0.33254|.	0.16|.	T|T	0.40627|0.40627	-0.9553|-0.9553	8|5	0.66056|0.87932	D|D	0.02|0	.|.	.|.	.|.	.|.	.|.	294|.	O75679|.	RFPL3_HUMAN|.	D|S	265;294;265|69;98	ENSP00000380609:G265D;ENSP00000249007:G294D;ENSP00000371520:G265D|.	ENSP00000249007:G294D|ENSP00000371516:P69S	G|P	+|-	2|1	0|0	RFPL3|RFPL3-AS1	31086746|31086746	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.071000|0.071000	0.16799|0.16799	-0.642000|-0.642000	0.05427|0.05427	-0.216000|-0.216000	0.10048|0.10048	0.205000|0.205000	0.17691|0.17691	GGT|CCT		0.507	RFPL3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000075172.3	NM_006604		17	78	0	0	0	1	0	17	78				
BLMH	642	broad.mit.edu	37	17	28598379	28598379	+	Silent	SNP	G	G	C			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr17:28598379G>C	ENST00000261714.6	-	10	1230	c.1056C>G	c.(1054-1056)gtC>gtG	p.V352V	BLMH_ENST00000394819.3_Silent_p.V265V|BLMH_ENST00000582669.1_5'Flank	NM_000386.3	NP_000377.1	Q13867	BLMH_HUMAN	bleomycin hydrolase	352					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|carboxypeptidase activity (GO:0004180)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|stomach(1)	13					Bleomycin(DB00290)	TCTTCAAGGAGACACCAAACA	0.428																																					Pancreas(127;628 1772 12912 33293 36203)	ENST00000261714.6																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|stomach(1)	13						c.(1054-1056)gtC>gtG		bleomycin hydrolase							115.0	105.0	108.0					17																	28598379		2203	4300	6503	SO:0001819	synonymous_variant	642				proteolysis	cytoplasm|nucleus	aminopeptidase activity|carboxypeptidase activity|cysteine-type endopeptidase activity|protein binding	g.chr17:28598379G>C	X92106	CCDS32604.1	17q11.2	2004-02-16				ENSG00000108578			1059	protein-coding gene	gene with protein product		602403				9407121, 9331073	Standard	NM_000386		Approved	BH	uc002hez.2	Q13867		ENST00000261714.6:c.1056C>G	17.37:g.28598379G>C						BLMH_ENST00000394819.3_Silent_p.V265V	p.V352V	NM_000386.3	NP_000377.1	Q13867	BLMH_HUMAN			10	1230	-			352					B2R796|Q53F86|Q9UER9	Silent	SNP	ENST00000261714.6	37	c.1056C>G	CCDS32604.1																																																																																				0.428	BLMH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447940.1	NM_000386		17	20	0	0	0	1	0	17	20				
ERAP2	64167	broad.mit.edu	37	5	96244818	96244818	+	Silent	SNP	C	C	G			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr5:96244818C>G	ENST00000437043.3	+	14	2877	c.2166C>G	c.(2164-2166)ctC>ctG	p.L722L	CTD-2260A17.2_ENST00000501338.1_Intron|ERAP2_ENST00000379904.4_Silent_p.L677L	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	722					antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|regulation of blood pressure (GO:0008217)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.L722L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		CTGAAAACCTCAAGGTTTGTG	0.388																																						ENST00000437043.3																			1	Substitution - coding silent(1)	p.L722L(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24						c.(2164-2166)ctC>ctG		endoplasmic reticulum aminopeptidase 2							69.0	68.0	68.0					5																	96244818		2203	4300	6503	SO:0001819	synonymous_variant	64167				antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr5:96244818C>G	AF191545	CCDS4086.1	5q15	2007-11-21			ENSG00000164308	ENSG00000164308			29499	protein-coding gene	gene with protein product	"""leukocyte-derived arginine aminopeptidase"""	609497				12799365, 15908954	Standard	NM_022350		Approved	L-RAP, LRAP	uc003kmt.3	Q6P179	OTTHUMG00000128718	ENST00000437043.3:c.2166C>G	5.37:g.96244818C>G						CTD-2260A17.2_ENST00000501338.1_Intron|ERAP2_ENST00000379904.4_Silent_p.L677L	p.L722L	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN		COAD - Colon adenocarcinoma(37;0.0703)	14	2877	+		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)	722					Q7Z5K1|Q8TD32|Q8WVJ4|Q9HBX2	Silent	SNP	ENST00000437043.3	37	c.2166C>G	CCDS4086.1																																																																																				0.388	ERAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250623.2	NM_022350		21	21	0	0	0	1	0	21	21				
PTCHD4	442213	broad.mit.edu	37	6	48036107	48036107	+	Silent	SNP	G	G	A			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr6:48036107G>A	ENST00000339488.4	-	1	318	c.285C>T	c.(283-285)gaC>gaT	p.D95D	PTCHD4_ENST00000543600.1_Silent_p.D78D	NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	95						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)										TTTTGGACTGGTCCAGGGGGA	0.632																																						ENST00000543600.1																			0											c.(232-234)gaC>gaT		patched domain containing 4							73.0	80.0	78.0					6																	48036107		1951	4140	6091	SO:0001819	synonymous_variant	442213					integral to membrane	hedgehog receptor activity	g.chr6:48036107G>A		CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 138"""	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.285C>T	6.37:g.48036107G>A						PTCHD4_ENST00000339488.4_Silent_p.D95D	p.D78D			Q6ZW05	CF138_HUMAN			1	273	-			95					B0QZ29|B4DRK3|Q5T884	Silent	SNP	ENST00000339488.4	37	c.234C>T	CCDS34473.2	.	.	.	.	.	.	.	.	.	.	G	5.148	0.212927	0.09757	.	.	ENSG00000244694	ENST00000398738	.	.	.	4.88	4.88	0.63580	.	.	.	.	.	T	0.53238	0.1784	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54282	-0.8317	4	.	.	.	.	11.9771	0.53098	0.0925:0.0:0.9075:0.0	.	.	.	.	S	95	.	.	P	-	1	0	C6orf138	48144066	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.243000	0.43115	2.237000	0.73441	0.563000	0.77884	CCA		0.632	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732		30	71	0	0	0	1	0	30	71				
SPTBN5	51332	broad.mit.edu	37	15	42149831	42149831	+	Silent	SNP	G	G	C			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr15:42149831G>C	ENST00000320955.6	-	50	8531	c.8304C>G	c.(8302-8304)ctC>ctG	p.L2768L		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	2768					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GCTCACCCCAGAGTGCTCCCA	0.647																																						ENST00000320955.6																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62						c.(8302-8304)ctC>ctG		spectrin, beta, non-erythrocytic 5							30.0	34.0	33.0					15																	42149831		2007	4169	6176	SO:0001819	synonymous_variant	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42149831G>C	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.8304C>G	15.37:g.42149831G>C							p.L2768L	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)	50	8531	-		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	2768						Silent	SNP	ENST00000320955.6	37	c.8304C>G																																																																																					0.647	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		5	10	0	0	0	1	0	5	10				
FTO	79068	broad.mit.edu	37	16	53913760	53913760	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr16:53913760C>G	ENST00000471389.1	+	6	1202	c.980C>G	c.(979-981)tCa>tGa	p.S327*	FTO_ENST00000394647.3_Nonsense_Mutation_p.S31*	NM_001080432.2	NP_001073901.1	Q9C0B1	FTO_HUMAN	fat mass and obesity associated	327	Fe2OG dioxygenase domain.				adipose tissue development (GO:0060612)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|oxidative demethylation (GO:0070989)|oxidative single-stranded DNA demethylation (GO:0035552)|oxidative single-stranded RNA demethylation (GO:0035553)|regulation of lipid storage (GO:0010883)|regulation of multicellular organism growth (GO:0040014)|regulation of respiratory system process (GO:0044065)|regulation of white fat cell proliferation (GO:0070350)|RNA repair (GO:0042245)|temperature homeostasis (GO:0001659)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA-N1-methyladenine dioxygenase activity (GO:0043734)|ferrous iron binding (GO:0008198)|oxidative DNA demethylase activity (GO:0035516)|oxidative RNA demethylase activity (GO:0035515)			endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						CAACAGTGCTCAACAGGAACC	0.413																																						ENST00000471389.1																			0				endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						c.(979-981)tCa>tGa		fat mass and obesity associated							170.0	157.0	161.0					16																	53913760		2198	4300	6498	SO:0001587	stop_gained	79068				DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation|RNA repair	nucleus	DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr16:53913760C>G	BC003583	CCDS32448.1	16q12.2	2013-11-15			ENSG00000140718	ENSG00000140718		"""Alkylation repair homologs"""	24678	protein-coding gene	gene with protein product	"""AlkB homolog 9"", ""alpha-ketoglutarate-dependent dioxygenase"""	610966				17434869, 17991826, 22002720	Standard	NM_001080432		Approved	KIAA1752, MGC5149, ALKBH9	uc002ehr.3	Q9C0B1	OTTHUMG00000158780	ENST00000471389.1:c.980C>G	16.37:g.53913760C>G	ENSP00000418823:p.Ser327*					FTO_ENST00000394647.3_Nonsense_Mutation_p.S31*	p.S327*	NM_001080432.2	NP_001073901.1	Q9C0B1	FTO_HUMAN			6	1202	+			327			Fe2OG dioxygenase domain.		A2RUH1|B2RNS0|Q0P676|Q7Z785	Nonsense_Mutation	SNP	ENST00000471389.1	37	c.980C>G	CCDS32448.1	.	.	.	.	.	.	.	.	.	.	C	40	8.235690	0.98719	.	.	ENSG00000140718	ENST00000471389;ENST00000394647	.	.	.	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-8.426	18.6788	0.91539	0.0:1.0:0.0:0.0	.	.	.	.	X	327;31	.	ENSP00000378142:S31X	S	+	2	0	FTO	52471261	0.998000	0.40836	0.965000	0.40720	0.979000	0.70002	5.025000	0.64097	2.761000	0.94854	0.650000	0.86243	TCA		0.413	FTO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352196.1	NM_001080432		32	56	0	0	0	1	0	32	56				
STX5	6811	broad.mit.edu	37	11	62591660	62591660	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr11:62591660C>G	ENST00000294179.3	-	10	1039	c.886G>C	c.(886-888)Gaa>Caa	p.E296Q	STX5_ENST00000541317.1_Missense_Mutation_p.E200Q|STX5_ENST00000377897.4_Missense_Mutation_p.E296Q|STX5_ENST00000394690.1_Missense_Mutation_p.E242Q	NM_001244666.1|NM_003164.4	NP_001231595.1|NP_003155.2	Q13190	STX5_HUMAN	syntaxin 5	296	t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.				ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)|vesicle fusion with Golgi apparatus (GO:0048280)|vesicle targeting (GO:0006903)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|SNARE complex (GO:0031201)	protein N-terminus binding (GO:0047485)|SNAP receptor activity (GO:0005484)			breast(2)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	18						TCCTCCTGTTCCTTAACCATG	0.507																																						ENST00000294179.3																			0				breast(2)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	18						c.(886-888)Gaa>Caa		syntaxin 5							237.0	220.0	226.0					11																	62591660		2201	4299	6500	SO:0001583	missense	6811				intracellular protein transport|retrograde transport, endosome to Golgi|vesicle targeting	ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|nucleus|SNARE complex	protein N-terminus binding|SNAP receptor activity	g.chr11:62591660C>G	U26648	CCDS8038.2, CCDS58140.1	11q12.3	2008-02-05	2006-04-25	2006-04-25	ENSG00000162236	ENSG00000162236			11440	protein-coding gene	gene with protein product		603189	"""syntaxin 5A"""	STX5A		9188044, 11959998	Standard	NM_003164		Approved	SED5	uc001nvh.3	Q13190	OTTHUMG00000143864	ENST00000294179.3:c.886G>C	11.37:g.62591660C>G	ENSP00000294179:p.Glu296Gln					STX5_ENST00000541317.1_Missense_Mutation_p.E200Q|STX5_ENST00000377897.4_Missense_Mutation_p.E296Q|STX5_ENST00000394690.1_Missense_Mutation_p.E242Q	p.E296Q	NM_001244666.1|NM_003164.4	NP_001231595.1|NP_003155.2	Q13190	STX5_HUMAN			10	1039	-			296			t-SNARE coiled-coil homology.		B2R8T2|F8W8Q9|Q5U0D4|Q7Z3T6|Q9BUG1	Missense_Mutation	SNP	ENST00000294179.3	37	c.886G>C	CCDS8038.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.7|24.7	4.559114|4.559114	0.86335|0.86335	.|.	.|.	ENSG00000162236|ENSG00000162236	ENST00000377897;ENST00000294179;ENST00000394690;ENST00000541317|ENST00000431400	T;T;T;T|.	0.26957|.	1.7;1.7;1.7;1.7|.	5.35|5.35	5.35|5.35	0.76521|0.76521	t-SNARE (1);Syntaxin/epimorphin, conserved site (1);Target SNARE coiled-coil domain (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74581|0.74581	0.3735|0.3735	M|M	0.72118|0.72118	2.19|2.19	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.87578|.	0.997;0.998|.	T|T	0.74297|0.74297	-0.3711|-0.3711	10|5	0.36615|.	T|.	0.2|.	-4.8543|-4.8543	16.5607|16.5607	0.84565|0.84565	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	296;296|.	F8W8Q9;Q13190|.	.;STX5_HUMAN|.	Q|S	296;296;242;200|150	ENSP00000367129:E296Q;ENSP00000294179:E296Q;ENSP00000378182:E242Q;ENSP00000441428:E200Q|.	ENSP00000294179:E296Q|.	E|R	-|-	1|3	0|2	STX5|STX5	62348236|62348236	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.481000|7.481000	0.81124|0.81124	2.524000|2.524000	0.85096|0.85096	0.462000|0.462000	0.41574|0.41574	GAA|AGG		0.507	STX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290113.1	NM_003164		24	102	0	0	0	1	0	24	102				
ZNF25	219749	broad.mit.edu	37	10	38246453	38246453	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr10:38246453C>G	ENST00000302609.7	-	3	249	c.37G>C	c.(37-39)Gtt>Ctt	p.V13L	ZNF25_ENST00000374633.1_5'UTR|AL117337.1_ENST00000582458.1_RNA	NM_145011.2	NP_659448.1	P17030	ZNF25_HUMAN	zinc finger protein 25	13	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157)				TCCACAATAACATCCTTTAAT	0.403																																						ENST00000302609.7																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(37-39)Gtt>Ctt		zinc finger protein 25							158.0	146.0	150.0					10																	38246453		2203	4300	6503	SO:0001583	missense	219749				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:38246453C>G	AK056452	CCDS7195.1	10p11.2	2013-01-08	2006-05-10		ENSG00000175395	ENSG00000175395		"""Zinc fingers, C2H2-type"", ""-"""	13043	protein-coding gene	gene with protein product		194528	"""zinc finger protein 25 (KOX 19)"""			1639412, 8464732	Standard	NM_145011		Approved	KOX19, FLJ31890, Zfp9	uc001ize.1	P17030	OTTHUMG00000019344	ENST00000302609.7:c.37G>C	10.37:g.38246453C>G	ENSP00000302222:p.Val13Leu					ZNF25_ENST00000374633.1_5'UTR	p.V13L	NM_145011.2	NP_659448.1	P17030	ZNF25_HUMAN			3	249	-		all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157)	13			KRAB.		A9Z1X5|Q8IYE3|Q8NDD6|Q96MU2	Missense_Mutation	SNP	ENST00000302609.7	37	c.37G>C	CCDS7195.1	.	.	.	.	.	.	.	.	.	.	C	13.73	2.325764	0.41197	.	.	ENSG00000175395	ENST00000302609	T	0.09255	3.0	4.36	1.43	0.22495	Krueppel-associated box (4);	0.215302	0.23567	N	0.046800	T	0.16171	0.0389	M	0.85041	2.73	0.80722	D	1	B	0.27700	0.186	B	0.32342	0.144	T	0.01791	-1.1273	10	0.56958	D	0.05	-4.3909	6.2842	0.21023	0.0:0.6769:0.0:0.3231	.	13	P17030	ZNF25_HUMAN	L	13	ENSP00000302222:V13L	ENSP00000302222:V13L	V	-	1	0	ZNF25	38286459	0.826000	0.29277	0.970000	0.41538	0.855000	0.48748	0.307000	0.19296	0.200000	0.20447	0.561000	0.74099	GTT		0.403	ZNF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051214.1	NM_145011, NM_006966		6	71	0	0	0	1	0	6	71				
HCN4	10021	broad.mit.edu	37	15	73615004	73615004	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr15:73615004C>T	ENST00000261917.3	-	8	4423	c.3430G>A	c.(3430-3432)Gcc>Acc	p.A1144T		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	1144					blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		CCGGGGATGGCACCATAGGGC	0.677																																						ENST00000261917.3																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55						c.(3430-3432)Gcc>Acc		hyperpolarization activated cyclic nucleotide-gated potassium channel 4							19.0	18.0	18.0					15																	73615004		2193	4295	6488	SO:0001583	missense	10021				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	g.chr15:73615004C>T	AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.3430G>A	15.37:g.73615004C>T	ENSP00000261917:p.Ala1144Thr						p.A1144T	NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN		COAD - Colon adenocarcinoma(1;0.142)	8	4423	-			1144					Q9UMQ7	Missense_Mutation	SNP	ENST00000261917.3	37	c.3430G>A	CCDS10248.1	.	.	.	.	.	.	.	.	.	.	C	5.416	0.261925	0.10239	.	.	ENSG00000138622	ENST00000261917	D	0.97303	-4.33	3.25	2.2	0.27929	.	.	.	.	.	D	0.89996	0.6877	N	0.08118	0	0.25182	N	0.990193	B	0.06786	0.001	B	0.04013	0.001	T	0.82835	-0.0261	9	0.66056	D	0.02	.	3.2591	0.06843	0.365:0.4801:0.0:0.1549	.	1144	Q9Y3Q4	HCN4_HUMAN	T	1144	ENSP00000261917:A1144T	ENSP00000261917:A1144T	A	-	1	0	HCN4	71402057	1.000000	0.71417	0.567000	0.28434	0.048000	0.14542	1.080000	0.30779	1.627000	0.50400	0.442000	0.29010	GCC		0.677	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268900.2	NM_005477		8	15	0	0	0	1	0	8	15				
MEF2A	4205	broad.mit.edu	37	15	100211533	100211533	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr15:100211533A>T	ENST00000557785.1	+	5	613	c.264A>T	c.(262-264)ttA>ttT	p.L88F	MEF2A_ENST00000449277.2_Missense_Mutation_p.L20F|MEF2A_ENST00000338042.6_Missense_Mutation_p.L88F|MEF2A_ENST00000557942.1_Missense_Mutation_p.L88F|MEF2A_ENST00000453228.2_Missense_Mutation_p.L88F|MEF2A_ENST00000354410.5_Intron|MEF2A_ENST00000558812.1_Missense_Mutation_p.L20F	NM_001171894.1	NP_001165365.1	Q02078	MEF2A_HUMAN	myocyte enhancer factor 2A	88					apoptotic process (GO:0006915)|cardiac conduction (GO:0061337)|cellular response to calcium ion (GO:0071277)|dendrite morphogenesis (GO:0048813)|ERK5 cascade (GO:0070375)|heart development (GO:0007507)|innate immune response (GO:0045087)|MAPK cascade (GO:0000165)|mitochondrial genome maintenance (GO:0000002)|mitochondrion distribution (GO:0048311)|muscle cell differentiation (GO:0042692)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac myofibril assembly (GO:0055005)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)			endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)			TTCAGACTTTAAGAAAGAAAG	0.378																																						ENST00000338042.6																			0				endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12						c.(262-264)ttA>ttT		myocyte enhancer factor 2A							149.0	144.0	145.0					15																	100211533		1568	3582	5150	SO:0001583	missense	4205				apoptosis|BMK cascade|cardiac conduction|cellular response to calcium ion|dendrite morphogenesis|innate immune response|mitochondrial genome maintenance|mitochondrion distribution|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|ventricular cardiac myofibril development	nuclear chromatin|nucleoplasm	activating transcription factor binding|histone acetyltransferase binding|histone deacetylase binding|protein heterodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|SMAD binding	g.chr15:100211533A>T		CCDS45362.1, CCDS45363.1, CCDS53978.1, CCDS58401.1	15q26	2008-02-05	2007-04-24			ENSG00000068305		"""Myocyte enhancer factors"""	6993	protein-coding gene	gene with protein product		600660				1516833	Standard	NM_005587		Approved	RSRFC4, RSRFC9	uc002bvf.3	Q02078		ENST00000557785.1:c.264A>T	15.37:g.100211533A>T	ENSP00000453441:p.Leu88Phe					MEF2A_ENST00000449277.2_Missense_Mutation_p.L20F|MEF2A_ENST00000354410.5_Intron|MEF2A_ENST00000558812.1_Missense_Mutation_p.L20F|MEF2A_ENST00000557942.1_Missense_Mutation_p.L88F|MEF2A_ENST00000453228.2_Missense_Mutation_p.L88F|MEF2A_ENST00000557785.1_Missense_Mutation_p.L88F	p.L88F			Q02078	MEF2A_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00085)		4	583	+	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		88					B4DFQ7|F6XG23|O43814|Q14223|Q14224|Q59GX4|Q7Z6C9|Q96D14	Missense_Mutation	SNP	ENST00000557785.1	37	c.264A>T	CCDS53978.1	.	.	.	.	.	.	.	.	.	.	A	19.54	3.846008	0.71603	.	.	ENSG00000068305	ENST00000453228;ENST00000338042;ENST00000449277	D;D;T	0.83506	-1.73;-1.73;0.54	5.54	5.54	0.83059	.	.	.	.	.	D	0.90256	0.6953	M	0.79258	2.445	0.38350	D	0.944309	D;D;D;D	0.89917	0.999;0.999;1.0;1.0	D;D;D;D	0.91635	0.998;0.993;0.998;0.999	D	0.92276	0.5829	9	0.87932	D	0	.	11.8899	0.52622	0.8544:0.1455:0.0:0.0	.	20;9;88;88	B4DFQ7;Q7Z6C9;Q02078-6;Q02078-2	.;.;.;.	F	88;88;20	ENSP00000404110:L88F;ENSP00000337202:L88F;ENSP00000399460:L20F	ENSP00000337202:L88F	L	+	3	2	MEF2A	98029056	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.706000	0.61845	2.229000	0.72834	0.533000	0.62120	TTA		0.378	MEF2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415985.1			12	71	0	0	0	1	0	12	71				
FOLH1B	219595	broad.mit.edu	37	11	89405088	89405088	+	RNA	SNP	C	C	T			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr11:89405088C>T	ENST00000532352.1	+	0	1028							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						CACCGGGACTCATGGGTGTTT	0.408																																						ENST00000532352.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48								folate hydrolase 1B							148.0	139.0	142.0					11																	89405088		2201	4296	6497			219595				proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:89405088C>T	AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"""prostate specific membrane antigen like protein"", ""Cell growth-inhibiting gene 26 protein"", ""glutamate carboxypeptidase III"""	609020	"""folate hydrolase 2"""	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89405088C>T										Q9HBA9	FOH1B_HUMAN			0	1028	+									RNA	SNP	ENST00000532352.1	37																																																																																						0.408	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	NM_153696		23	29	0	0	0	1	0	23	29				
SHANK1	50944	broad.mit.edu	37	19	51217438	51217438	+	Splice_Site	SNP	C	C	T			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr19:51217438C>T	ENST00000293441.1	-	4	659		c.e4+1		SHANK1_ENST00000359082.3_Splice_Site|SHANK1_ENST00000391814.1_Splice_Site	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1						adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CCCCTCCCTACCTCCCGAATC	0.597																																						ENST00000293441.1																			0				breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64						c.e4+1		SH3 and multiple ankyrin repeat domains 1							58.0	48.0	51.0					19																	51217438		2203	4300	6503	SO:0001630	splice_region_variant	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51217438C>T	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.640+1G>A	19.37:g.51217438C>T						SHANK1_ENST00000391814.1_Splice_Site|SHANK1_ENST00000359082.3_Splice_Site		NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	4	659	-		all_neural(266;0.057)						A8MXP5|B7WNY6|Q9NYW9	Splice_Site	SNP	ENST00000293441.1	37		CCDS12799.1	.	.	.	.	.	.	.	.	.	.	C	18.31	3.595093	0.66219	.	.	ENSG00000161681	ENST00000293441;ENST00000359082;ENST00000391814	.	.	.	3.86	3.86	0.44501	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0937	0.65006	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SHANK1	55909250	1.000000	0.71417	0.999000	0.59377	0.833000	0.47200	7.010000	0.76353	2.459000	0.83118	0.561000	0.74099	.		0.597	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148	Intron	18	22	0	0	0	1	0	18	22				
TMCO6	55374	broad.mit.edu	37	5	140021368	140021368	+	Intron	SNP	C	C	T			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr5:140021368C>T	ENST00000394671.3	+	3	415				TMCO6_ENST00000537378.1_Intron|TMCO6_ENST00000252100.6_Intron|NDUFA2_ENST00000510680.1_Intron|TMCO6_ENST00000511410.1_Missense_Mutation_p.S106L	NM_018502.3	NP_060972.3	Q96DC7	TMCO6_HUMAN	transmembrane and coiled-coil domains 6						protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|urinary_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCATCCGGTCAGTGTGGATG	0.597																																						ENST00000511410.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|urinary_tract(1)	9						c.(316-318)tCa>tTa		transmembrane and coiled-coil domains 6							38.0	41.0	40.0					5																	140021368		2081	4222	6303	SO:0001627	intron_variant	55374				protein import into nucleus	cytoplasm|nuclear pore	binding|protein transporter activity	g.chr5:140021368C>T	BC001910	CCDS4233.2, CCDS75320.1	5q31.3	2008-11-06			ENSG00000113119	ENSG00000113119			28814	protein-coding gene	gene with protein product						12477932	Standard	XM_005268476		Approved	FLJ39769, PRO1580	uc003lgl.3	Q96DC7	OTTHUMG00000129497	ENST00000394671.3:c.314+3C>T	5.37:g.140021368C>T						TMCO6_ENST00000252100.6_Intron|NDUFA2_ENST00000510680.1_Intron|TMCO6_ENST00000537378.1_Intron|TMCO6_ENST00000394671.3_Intron	p.S106L			Q96DC7	TMCO6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	392	+			0					Q9BUU0|Q9P198	Missense_Mutation	SNP	ENST00000394671.3	37	c.317C>T	CCDS4233.2	.	.	.	.	.	.	.	.	.	.	C	11.45	1.642169	0.29157	.	.	ENSG00000113119	ENST00000511410	.	.	.	5.4	1.49	0.22878	.	.	.	.	.	T	0.38134	0.1029	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.10450	0.005	T	0.07731	-1.0757	6	.	.	.	.	7.183	0.25784	0.0:0.4494:0.3953:0.1553	.	106	E7ESN7	.	L	106	.	.	S	+	2	0	TMCO6	140001552	0.217000	0.23597	0.958000	0.39756	0.203000	0.24098	-0.409000	0.07160	0.236000	0.21180	-0.244000	0.11960	TCA		0.597	TMCO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251666.2	NM_018502		17	25	0	0	0	1	0	17	25				
HIST1H3H	8357	broad.mit.edu	37	6	27778027	27778027	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr6:27778027C>G	ENST00000369163.2	+	1	186	c.176C>G	c.(175-177)aCc>aGc	p.T59S	HIST1H2BL_ENST00000377401.2_5'Flank	NM_003536.2	NP_003527.1	P68431	H31_HUMAN	histone cluster 1, H3h	59					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(2)|upper_aerodigestive_tract(3)	10						CAGAAGTCCACCGAGCTGCTG	0.627																																						ENST00000369163.2																			0				haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(2)|upper_aerodigestive_tract(3)	10						c.(175-177)aCc>aGc		histone cluster 1, H3h							62.0	59.0	60.0					6																	27778027		2203	4300	6503	SO:0001583	missense	8357				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:27778027C>G	Z83735	CCDS4627.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000203813	ENSG00000278828		"""Histones / Replication-dependent"""	4775	protein-coding gene	gene with protein product		602818	"""H3 histone family, member K"", ""histone 1, H3h"""	H3FK		9439656, 12408966	Standard	NM_003536		Approved	H3/k, H3F1K	uc003njm.3	P68431	OTTHUMG00000014483	ENST00000369163.2:c.176C>G	6.37:g.27778027C>G	ENSP00000358160:p.Thr59Ser						p.T59S	NM_003536.2	NP_003527.1	P68431	H31_HUMAN			1	186	+			59					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000369163.2	37	c.176C>G	CCDS4627.1	.	.	.	.	.	.	.	.	.	.	.	15.27	2.785235	0.49997	.	.	ENSG00000203813	ENST00000369163	T	0.66815	-0.23	4.33	4.33	0.51752	.	.	.	.	.	T	0.74152	0.3679	.	.	.	0.38050	D	0.935756	.	.	.	.	.	.	T	0.78919	-0.2014	6	0.72032	D	0.01	.	16.683	0.85297	0.0:1.0:0.0:0.0	.	.	.	.	S	59	ENSP00000358160:T59S	ENSP00000358160:T59S	T	+	2	0	HIST1H3H	27886006	1.000000	0.71417	0.968000	0.41197	0.911000	0.54048	5.655000	0.67981	2.329000	0.79093	0.655000	0.94253	ACC		0.627	HIST1H3H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040151.1	NM_003536		15	50	0	0	0	1	0	15	50				
GBF1	8729	broad.mit.edu	37	10	104140401	104140401	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr10:104140401C>T	ENST00000369983.3	+	38	5388	c.5128C>T	c.(5128-5130)Cct>Tct	p.P1710S		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1710					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CTGTTTTCTCCCTCACCTACG	0.572																																						ENST00000369983.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(5128-5130)Cct>Tct		golgi brefeldin A resistant guanine nucleotide exchange factor 1							238.0	259.0	252.0					10																	104140401		2203	4300	6503	SO:0001583	missense	8729				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr10:104140401C>T	D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"""golgi-specific brefeldin A resistance factor 1"""			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.5128C>T	10.37:g.104140401C>T	ENSP00000359000:p.Pro1710Ser						p.P1710S	NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)	38	5388	+		Colorectal(252;0.0236)	1710					Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	ENST00000369983.3	37	c.5128C>T	CCDS7533.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.662022	0.88251	.	.	ENSG00000107862	ENST00000369983	T	0.40225	1.04	5.91	5.91	0.95273	.	0.051016	0.85682	D	0.000000	T	0.65333	0.2681	M	0.64997	1.995	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.994	T	0.64884	-0.6302	10	0.72032	D	0.01	-16.4778	20.2985	0.98592	0.0:1.0:0.0:0.0	.	1706;1706;1710	Q149P1;Q149P0;Q92538	.;.;GBF1_HUMAN	S	1710	ENSP00000359000:P1710S	ENSP00000359000:P1710S	P	+	1	0	GBF1	104130391	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	7.687000	0.84139	2.793000	0.96121	0.655000	0.94253	CCT		0.572	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1			130	213	0	0	0	1	0	130	213				
ANKRD44	91526	broad.mit.edu	37	2	197863748	197863748	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr2:197863748C>T	ENST00000328737.2	-	24	2549	c.2473G>A	c.(2473-2475)Gat>Aat	p.D825N	ANKRD44_ENST00000337207.5_Missense_Mutation_p.D825N|ANKRD44_ENST00000282272.8_Missense_Mutation_p.D842N|ANKRD44_ENST00000450567.1_Missense_Mutation_p.D825N			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	850										NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TCCACATGATCAGCAAATGCT	0.433																																						ENST00000328737.2																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45						c.(2473-2475)Gat>Aat		ankyrin repeat domain 44							99.0	88.0	92.0					2																	197863748		2203	4300	6503	SO:0001583	missense	91526						protein binding	g.chr2:197863748C>T	AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	25259	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit B"""						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000328737.2:c.2473G>A	2.37:g.197863748C>T	ENSP00000331516:p.Asp825Asn					ANKRD44_ENST00000337207.5_Missense_Mutation_p.D825N|ANKRD44_ENST00000282272.8_Missense_Mutation_p.D842N|ANKRD44_ENST00000450567.1_Missense_Mutation_p.D825N	p.D825N			Q8N8A2	ANR44_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		24	2549	-			850					Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Missense_Mutation	SNP	ENST00000328737.2	37	c.2473G>A		.	.	.	.	.	.	.	.	.	.	C	23.1	4.379613	0.82682	.	.	ENSG00000065413	ENST00000424317;ENST00000282272;ENST00000328737;ENST00000450567;ENST00000337207	T;T;T;T;T	0.63096	-0.02;-0.02;0.04;0.04;-0.02	5.15	5.15	0.70609	.	0.055701	0.64402	D	0.000001	T	0.67154	0.2863	N	0.13299	0.325	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.72168	-0.4372	10	0.56958	D	0.05	.	18.8165	0.92079	0.0:1.0:0.0:0.0	.	868	Q8N8A2-2	.	N	665;842;825;825;825	ENSP00000403415:D665N;ENSP00000282272:D842N;ENSP00000331516:D825N;ENSP00000402420:D825N;ENSP00000338794:D825N	ENSP00000282272:D842N	D	-	1	0	ANKRD44	197571993	0.998000	0.40836	0.984000	0.44739	0.833000	0.47200	5.931000	0.70113	2.665000	0.90641	0.585000	0.79938	GAT		0.433	ANKRD44-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335113.1	NM_153697		19	16	0	0	0	1	0	19	16				
FAT3	120114	broad.mit.edu	37	11	92532589	92532589	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr11:92532589G>T	ENST00000298047.6	+	9	6427	c.6410G>T	c.(6409-6411)gGg>gTg	p.G2137V	FAT3_ENST00000409404.2_Missense_Mutation_p.G2137V|FAT3_ENST00000525166.1_Missense_Mutation_p.G1987V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2137	Cadherin 19. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCTAATTCAGGGAATGTTATT	0.418										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(6409-6411)gGg>gTg		FAT atypical cadherin 3							41.0	40.0	41.0					11																	92532589		1894	4128	6022	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92532589G>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.6410G>T	11.37:g.92532589G>T	ENSP00000298047:p.Gly2137Val	TCGA Ovarian(4;0.039)				FAT3_ENST00000409404.2_Missense_Mutation_p.G2137V|FAT3_ENST00000525166.1_Missense_Mutation_p.G1987V	p.G2137V			Q8TDW7	FAT3_HUMAN			9	6427	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	2137			Cadherin 19.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.6410G>T		.	.	.	.	.	.	.	.	.	.	G	18.46	3.629731	0.67015	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	D;D;D	0.91464	-2.85;-2.85;-2.85	6.02	6.02	0.97574	.	.	.	.	.	D	0.97654	0.9231	H	0.98646	4.29	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98285	1.0510	9	0.87932	D	0	.	20.5407	0.99260	0.0:0.0:1.0:0.0	.	2137	Q8TDW7-3	.	V	2137;2137;1987	ENSP00000298047:G2137V;ENSP00000387040:G2137V;ENSP00000432586:G1987V	ENSP00000298047:G2137V	G	+	2	0	FAT3	92172237	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.787000	0.99055	2.865000	0.98341	0.655000	0.94253	GGG		0.418	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		7	9	1	0	5.68852e-11	1	6.01925e-11	7	9				
AAK1	22848	broad.mit.edu	37	2	69759275	69759275	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr2:69759275T>A	ENST00000409085.4	-	6	930	c.554A>T	c.(553-555)cAt>cTt	p.H185L	AAK1_ENST00000470281.1_5'UTR|AAK1_ENST00000409068.1_Missense_Mutation_p.H185L|AAK1_ENST00000406297.3_Missense_Mutation_p.H185L	NM_014911.3	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	185	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				endocytosis (GO:0006897)|positive regulation of Notch signaling pathway (GO:0045747)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of clathrin-mediated endocytosis (GO:2000369)|regulation of protein localization (GO:0032880)	cell leading edge (GO:0031252)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extrinsic component of plasma membrane (GO:0019897)|terminal bouton (GO:0043195)	AP-2 adaptor complex binding (GO:0035612)|ATP binding (GO:0005524)|Notch binding (GO:0005112)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						GCCTCGGTCATGCAAGAGGAT	0.418																																						ENST00000409085.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						c.(553-555)cAt>cTt		AP2 associated kinase 1							112.0	107.0	109.0					2																	69759275		1956	4152	6108	SO:0001583	missense	22848					coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity	g.chr2:69759275T>A	AB028971	CCDS1893.2	2p13.3	2012-07-10			ENSG00000115977	ENSG00000115977			19679	protein-coding gene	gene with protein product						11877461, 12471243	Standard	NM_014911		Approved	KIAA1048, DKFZp686K16132	uc002sfp.2	Q2M2I8	OTTHUMG00000129648	ENST00000409085.4:c.554A>T	2.37:g.69759275T>A	ENSP00000386456:p.His185Leu					AAK1_ENST00000406297.3_Missense_Mutation_p.H185L|AAK1_ENST00000470281.1_5'UTR|AAK1_ENST00000409068.1_Missense_Mutation_p.H185L	p.H185L	NM_014911.3	NP_055726.3	Q2M2I8	AAK1_HUMAN			6	930	-			185			Protein kinase.		Q4ZFZ3|Q53RX6|Q9UPV4	Missense_Mutation	SNP	ENST00000409085.4	37	c.554A>T	CCDS1893.2	.	.	.	.	.	.	.	.	.	.	T	25.7	4.668956	0.88348	.	.	ENSG00000115977	ENST00000409068;ENST00000409085;ENST00000406297	T;T;T	0.19669	2.13;2.13;2.13	4.83	4.83	0.62350	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.044149	0.85682	D	0.000000	T	0.24236	0.0587	N	0.16833	0.445	0.80722	D	1	P;P;P	0.51537	0.791;0.57;0.946	P;P;P	0.55713	0.782;0.46;0.583	T	0.03193	-1.1062	10	0.48119	T	0.1	-19.6919	14.0211	0.64555	0.0:0.0:0.0:1.0	.	185;185;185	B7ZLC4;Q2M2I8-2;Q2M2I8	.;.;AAK1_HUMAN	L	185	ENSP00000386342:H185L;ENSP00000386456:H185L;ENSP00000385181:H185L	ENSP00000385181:H185L	H	-	2	0	AAK1	69612779	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.073000	0.71245	2.156000	0.67533	0.533000	0.62120	CAT		0.418	AAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251847.4	NM_014911		7	51	0	0	0	1	0	7	51				
LRP1B	53353	broad.mit.edu	37	2	141762944	141762944	+	Silent	SNP	G	G	A			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr2:141762944G>A	ENST00000389484.3	-	15	3434	c.2463C>T	c.(2461-2463)gcC>gcT	p.A821A		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	821	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTTGATTATCGGCACAAGCAC	0.443										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(2461-2463)gcC>gcT		low density lipoprotein receptor-related protein 1B							78.0	75.0	76.0					2																	141762944		2203	4300	6503	SO:0001819	synonymous_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141762944G>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.2463C>T	2.37:g.141762944G>A		TSP Lung(27;0.18)					p.A821A	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	15	3434	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	821			EGF-like 3.		Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	c.2463C>T	CCDS2182.1																																																																																				0.443	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		12	33	0	0	0	1	0	12	33				
SYNE2	23224	broad.mit.edu	37	14	64497902	64497902	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr14:64497902A>T	ENST00000344113.4	+	45	7260	c.7048A>T	c.(7048-7050)Aag>Tag	p.K2350*	SYNE2_ENST00000554584.1_Nonsense_Mutation_p.K2350*|SYNE2_ENST00000358025.3_Nonsense_Mutation_p.K2350*|SYNE2_ENST00000357395.3_De_novo_Start_InFrame	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2350					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TGCATCTGCTAAGCAGGAGAT	0.393																																						ENST00000358025.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(7048-7050)Aag>Tag		spectrin repeat containing, nuclear envelope 2							120.0	120.0	120.0					14																	64497902		1836	4101	5937	SO:0001587	stop_gained	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64497902A>T	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.7048A>T	14.37:g.64497902A>T	ENSP00000341781:p.Lys2350*					SYNE2_ENST00000554584.1_Nonsense_Mutation_p.K2350*|SYNE2_ENST00000357395.3_De_novo_Start_InFrame|SYNE2_ENST00000344113.4_Nonsense_Mutation_p.K2350*	p.K2350*	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	45	7278	+			2350					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Nonsense_Mutation	SNP	ENST00000344113.4	37	c.7048A>T	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	A	47	13.089476	0.99719	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	.	.	.	5.08	2.66	0.31614	.	0.103452	0.42420	D	0.000708	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.9471	0.19225	0.7485:0.1664:0.0851:0.0	.	.	.	.	X	2350	.	ENSP00000261678:K2350X	K	+	1	0	SYNE2	63567655	1.000000	0.71417	1.000000	0.80357	0.623000	0.37688	1.639000	0.37176	0.337000	0.23665	0.459000	0.35465	AAG		0.393	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		130	71	0	0	0	1	0	130	71				
ECT2	1894	broad.mit.edu	37	3	172473109	172473109	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr3:172473109G>A	ENST00000392692.3	+	3	331	c.155G>A	c.(154-156)aGa>aAa	p.R52K	ECT2_ENST00000417960.1_Missense_Mutation_p.R51K|ECT2_ENST00000441497.2_Missense_Mutation_p.R52K|ECT2_ENST00000232458.5_Missense_Mutation_p.R52K|ECT2_ENST00000427830.1_Missense_Mutation_p.R52K|ECT2_ENST00000540509.1_Missense_Mutation_p.R52K	NM_001258315.1	NP_001245244.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming 2	52					activation of protein kinase activity (GO:0032147)|activation of Rac GTPase activity (GO:0032863)|activation of Rho GTPase activity (GO:0032862)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular response to calcium ion (GO:0071277)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|cytokinesis (GO:0000910)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of Rho GTPase activity (GO:0032321)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|centralspindlin complex (GO:0097149)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			ATTGAAACAAGAGTGATATTG	0.318																																						ENST00000417960.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(151-153)aGa>aAa		epithelial cell transforming sequence 2 oncogene							93.0	98.0	97.0					3																	172473109		2203	4297	6500	SO:0001583	missense	1894				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr3:172473109G>A	AA206473	CCDS3220.1, CCDS58860.1	3q26.1-q26.2	2014-03-11	2014-03-11		ENSG00000114346	ENSG00000114346		"""Rho guanine nucleotide exchange factors"""	3155	protein-coding gene	gene with protein product		600586	"""epithelial cell transforming sequence 2 oncogene"""			8464478, 10579713	Standard	NM_018098		Approved	ARHGEF31	uc003fil.2	Q9H8V3	OTTHUMG00000156762	ENST00000392692.3:c.155G>A	3.37:g.172473109G>A	ENSP00000376457:p.Arg52Lys					ECT2_ENST00000392692.3_Missense_Mutation_p.R52K|ECT2_ENST00000232458.5_Missense_Mutation_p.R52K|ECT2_ENST00000427830.1_Missense_Mutation_p.R52K|ECT2_ENST00000441497.2_Missense_Mutation_p.R52K|ECT2_ENST00000540509.1_Missense_Mutation_p.R52K	p.R51K	NM_001258316.1	NP_001245245.1	Q9H8V3	ECT2_HUMAN	Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)		4	629	+	Ovarian(172;0.00197)|Breast(254;0.158)		52					Q0MT80|Q2M269|Q6U836|Q9NSV8|Q9NVW9	Missense_Mutation	SNP	ENST00000392692.3	37	c.152G>A	CCDS58860.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.362836	0.82353	.	.	ENSG00000114346	ENST00000232458;ENST00000392692;ENST00000427830;ENST00000417960;ENST00000428567;ENST00000426894;ENST00000366090;ENST00000415665;ENST00000438041;ENST00000441497;ENST00000540509	T;T;T;T;T;T;T;T;T;T;T	0.78003	-1.07;-0.95;-1.14;-1.08;0.15;0.2;-0.06;0.2;0.06;-1.07;-0.95	5.58	4.7	0.59300	.	0.000000	0.85682	D	0.000000	D	0.85517	0.5715	M	0.61703	1.905	0.53005	D	0.999963	D;D;P;P	0.76494	0.999;0.999;0.845;0.938	D;D;P;P	0.81914	0.99;0.995;0.646;0.801	D	0.85471	0.1173	10	0.49607	T	0.09	-20.3088	14.8434	0.70243	0.0704:0.0:0.9296:0.0	.	52;52;52;51	Q9H8V3;Q9H8V3-3;G5E9L8;Q9H8V3-2	ECT2_HUMAN;.;.;.	K	52;52;52;51;51;52;52;52;52;52;52	ENSP00000232458:R52K;ENSP00000376457:R52K;ENSP00000401910:R52K;ENSP00000415876:R51K;ENSP00000403501:R51K;ENSP00000412331:R52K;ENSP00000403446:R52K;ENSP00000412028:R52K;ENSP00000389108:R52K;ENSP00000412259:R52K;ENSP00000443160:R52K	ENSP00000232458:R52K	R	+	2	0	ECT2	173955803	1.000000	0.71417	0.064000	0.19789	0.989000	0.77384	7.851000	0.86920	2.628000	0.89032	0.491000	0.48974	AGA		0.318	ECT2-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345994.2	NM_018098		10	42	0	0	0	1	0	10	42				
SLC4A8	9498	broad.mit.edu	37	12	51845919	51845919	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr12:51845919C>T	ENST00000453097.2	+	4	506	c.289C>T	c.(289-291)Cag>Tag	p.Q97*	SLC4A8_ENST00000358657.3_Nonsense_Mutation_p.Q124*|SLC4A8_ENST00000535225.2_Nonsense_Mutation_p.Q44*|SLC4A8_ENST00000514353.3_Nonsense_Mutation_p.Q44*|SLC4A8_ENST00000394856.1_Nonsense_Mutation_p.Q44*	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1			solute carrier family 4, sodium bicarbonate cotransporter, member 8											NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		CACACCATCTCAGCGTGTTCA	0.428																																						ENST00000453097.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55						c.(289-291)Cag>Tag		solute carrier family 4, sodium bicarbonate cotransporter, member 8							234.0	220.0	225.0					12																	51845919		2203	4300	6503	SO:0001587	stop_gained	9498				bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity	g.chr12:51845919C>T	AB018282	CCDS44890.1, CCDS58232.1, CCDS58233.1, CCDS73470.1	12q13.13	2013-05-22			ENSG00000050438	ENSG00000050438		"""Solute carriers"""	11034	protein-coding gene	gene with protein product		605024				11133997	Standard	NM_001039960		Approved	NBC3	uc001rys.2	Q2Y0W8	OTTHUMG00000169489	ENST00000453097.2:c.289C>T	12.37:g.51845919C>T	ENSP00000405812:p.Gln97*					SLC4A8_ENST00000394856.1_Nonsense_Mutation_p.Q44*|SLC4A8_ENST00000358657.3_Nonsense_Mutation_p.Q124*|SLC4A8_ENST00000514353.3_Nonsense_Mutation_p.Q44*|SLC4A8_ENST00000535225.2_Nonsense_Mutation_p.Q44*	p.Q97*	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.15)	4	506	+			97						Nonsense_Mutation	SNP	ENST00000453097.2	37	c.289C>T	CCDS44890.1	.	.	.	.	.	.	.	.	.	.	C	39	7.666128	0.98422	.	.	ENSG00000050438	ENST00000535225;ENST00000358657;ENST00000453097;ENST00000394856;ENST00000319957;ENST00000514353;ENST00000547697;ENST00000551071	.	.	.	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.5318	0.87817	0.0:1.0:0.0:0.0	.	.	.	.	X	44;124;97;44;97;44;44;44	.	ENSP00000315789:Q97X	Q	+	1	0	SLC4A8	50132186	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.817000	0.96982	0.563000	0.77884	CAG		0.428	SLC4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404356.1	NM_004858		43	84	0	0	0	1	0	43	84				
GTSE1	51512	broad.mit.edu	37	22	46719097	46719097	+	Silent	SNP	G	G	A			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr22:46719097G>A	ENST00000454366.1	+	8	1655	c.1443G>A	c.(1441-1443)ccG>ccA	p.P481P		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	462					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|microtubule-based process (GO:0007017)	cytoplasmic microtubule (GO:0005881)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		GTGACTCCCCGGACAGCTCAA	0.567																																					GBM(153;542 1915 12487 29016 50495)	ENST00000454366.1																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27						c.(1441-1443)ccG>ccA		G-2 and S-phase expressed 1							154.0	141.0	145.0					22																	46719097		2203	4300	6503	SO:0001819	synonymous_variant	51512				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule		g.chr22:46719097G>A	AF223408	CCDS14074.2	22q13.2-q13.3	2008-06-10			ENSG00000075218	ENSG00000075218			13698	protein-coding gene	gene with protein product		607477				10974554, 10984615, 12750368	Standard	NM_016426		Approved	GTSE-1, B99	uc011aqy.2	Q9NYZ3	OTTHUMG00000150486	ENST00000454366.1:c.1443G>A	22.37:g.46719097G>A							p.P481P	NM_016426.6	NP_057510.4	Q9NYZ3	GTSE1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)	8	1655	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	462					B0QYM3|Q20WK2|Q53GX5|Q5R3I6|Q6DHX4|Q9BRE0|Q9UGZ9|Q9Y557	Silent	SNP	ENST00000454366.1	37	c.1443G>A	CCDS14074.2																																																																																				0.567	GTSE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318360.2	NM_016426		4	127	0	0	0	1	0	4	127				
DNAJC5	80331	broad.mit.edu	37	20	62560822	62560822	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr20:62560822C>G	ENST00000360864.4	+	3	418	c.265C>G	c.(265-267)Cag>Gag	p.Q89E	DNAJC5_ENST00000369911.2_Missense_Mutation_p.Q89E	NM_025219.2	NP_079495.1	Q9H3Z4	DNJC5_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5	89					cell death (GO:0008219)|exocytosis (GO:0006887)|negative regulation of neuron apoptotic process (GO:0043524)|neurotransmitter secretion (GO:0007269)|regulated secretory pathway (GO:0045055)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)	clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)				cervix(1)|endometrium(1)|lung(1)|pancreas(1)|upper_aerodigestive_tract(1)	5	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CGTGGCCGAGCAGTTTGGGGA	0.592																																						ENST00000360864.4																			0				cervix(1)|endometrium(1)|lung(1)|pancreas(1)|upper_aerodigestive_tract(1)	5						c.(265-267)Cag>Gag		DnaJ (Hsp40) homolog, subfamily C, member 5							149.0	117.0	128.0					20																	62560822		2203	4300	6503	SO:0001583	missense	80331				neurotransmitter secretion|protein folding	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|melanosome|plasma membrane	heat shock protein binding|unfolded protein binding	g.chr20:62560822C>G		CCDS13546.1	20q13.33	2014-09-17			ENSG00000101152	ENSG00000101152		"""Heat shock proteins / DNAJ (HSP40)"""	16235	protein-coding gene	gene with protein product		611203	"""ceroid-lipofuscinosis, neuronal 4 (Kufs disease)"""	CLN4			Standard	NM_025219		Approved	FLJ00118, FLJ13070, DNAJC5A	uc002yhf.3	Q9H3Z4	OTTHUMG00000033007	ENST00000360864.4:c.265C>G	20.37:g.62560822C>G	ENSP00000354111:p.Gln89Glu					DNAJC5_ENST00000369911.2_Missense_Mutation_p.Q89E	p.Q89E	NM_025219.2	NP_079495.1	Q9H3Z4	DNJC5_HUMAN			3	418	+	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)		89					A8K0M0|B3KY68|E1P5G8|Q9H3Z5|Q9H7H2	Missense_Mutation	SNP	ENST00000360864.4	37	c.265C>G	CCDS13546.1	.	.	.	.	.	.	.	.	.	.	C	33	5.276599	0.95459	.	.	ENSG00000101152	ENST00000369911;ENST00000360864	T;T	0.72835	-0.69;-0.69	5.33	5.33	0.75918	Heat shock protein DnaJ, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.85371	0.5681	M	0.89414	3.03	0.80722	D	1	P;D	0.61080	0.904;0.989	P;P	0.59115	0.823;0.852	D	0.87775	0.2608	10	0.66056	D	0.02	.	19.3758	0.94508	0.0:1.0:0.0:0.0	.	89;89	Q9H3Z4-2;Q9H3Z4	.;DNJC5_HUMAN	E	89	ENSP00000358927:Q89E;ENSP00000354111:Q89E	ENSP00000354111:Q89E	Q	+	1	0	DNAJC5	62031266	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	7.631000	0.83237	2.664000	0.90586	0.650000	0.86243	CAG		0.592	DNAJC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080244.1	NM_025219		45	86	0	0	0	1	0	45	86				
KAT2B	8850	broad.mit.edu	37	3	20142948	20142948	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr3:20142948A>T	ENST00000263754.4	+	5	1294	c.839A>T	c.(838-840)gAg>gTg	p.E280V		NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	280					cell cycle arrest (GO:0007050)|cellular response to insulin stimulus (GO:0032869)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|histone H3-K9 acetylation (GO:0043970)|internal peptidyl-lysine acetylation (GO:0018393)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|Notch signaling pathway (GO:0007219)|peptidyl-lysine acetylation (GO:0018394)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein acetylation (GO:0006473)|regulation of protein ADP-ribosylation (GO:0010835)|rhythmic process (GO:0048511)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	A band (GO:0031672)|actomyosin (GO:0042641)|Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|I band (GO:0031674)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)	acetyltransferase activity (GO:0016407)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|histone acetyltransferase activity (GO:0004402)|histone deacetylase binding (GO:0042826)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						GGATACAAAGAGAACTACACA	0.418																																						ENST00000263754.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						c.(838-840)gAg>gTg		K(lysine) acetyltransferase 2B							106.0	96.0	100.0					3																	20142948		2203	4300	6503	SO:0001583	missense	8850				cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding	g.chr3:20142948A>T	U57316	CCDS2634.1	3p24	2011-07-01	2008-07-04	2008-07-04	ENSG00000114166	ENSG00000114166		"""Chromatin-modifying enzymes / K-acetyltransferases"""	8638	protein-coding gene	gene with protein product		602303	"""p300/CBP-associated factor"""	PCAF		8684459, 9722949	Standard	NM_003884		Approved	P/CAF, GCN5, GCN5L	uc003cbq.3	Q92831	OTTHUMG00000130481	ENST00000263754.4:c.839A>T	3.37:g.20142948A>T	ENSP00000263754:p.Glu280Val						p.E280V	NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN			5	1294	+			280					Q6NSK1	Missense_Mutation	SNP	ENST00000263754.4	37	c.839A>T	CCDS2634.1	.	.	.	.	.	.	.	.	.	.	A	7.377	0.628007	0.14257	.	.	ENSG00000114166	ENST00000263754	T	0.16897	2.31	5.72	4.52	0.55395	PCAF, N-terminal (1);	0.211084	0.49916	D	0.000126	T	0.04452	0.0122	N	0.00760	-1.21	0.42806	D	0.993941	B	0.02656	0.0	B	0.06405	0.002	T	0.31586	-0.9938	10	0.07175	T	0.84	-21.8931	9.9621	0.41701	0.768:0.0:0.0:0.232	.	280	Q92831	KAT2B_HUMAN	V	280	ENSP00000263754:E280V	ENSP00000263754:E280V	E	+	2	0	KAT2B	20117952	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.006000	0.49529	2.187000	0.69744	0.459000	0.35465	GAG		0.418	KAT2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252880.1	NM_003884		22	33	0	0	0	1	0	22	33				
NLN	57486	broad.mit.edu	37	5	65077120	65077120	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr5:65077120G>A	ENST00000380985.5	+	6	872	c.694G>A	c.(694-696)Gaa>Aaa	p.E232K	NLN_ENST00000502464.1_Missense_Mutation_p.E128K	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN	neurolysin (metallopeptidase M3 family)	232						mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		TGACAGTTTAGAAAAGACAGA	0.338																																						ENST00000380985.5																			0				central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						c.(694-696)Gaa>Aaa		neurolysin (metallopeptidase M3 family)							71.0	73.0	72.0					5																	65077120		2203	4300	6503	SO:0001583	missense	57486				proteolysis	mitochondrial intermembrane space	metal ion binding|metalloendopeptidase activity	g.chr5:65077120G>A	AJ300837	CCDS3989.1	5q12.3	2008-02-05	2005-03-31		ENSG00000123213	ENSG00000123213	3.4.24.16		16058	protein-coding gene	gene with protein product		611530	"""angiotensin binding protein"""	AGTBP		10574462	Standard	NM_020726		Approved	KIAA1226	uc003juf.3	Q9BYT8	OTTHUMG00000097803	ENST00000380985.5:c.694G>A	5.37:g.65077120G>A	ENSP00000370372:p.Glu232Lys					NLN_ENST00000502464.1_Missense_Mutation_p.E128K	p.E232K	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)	6	872	+		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)	232					Q9ULJ4	Missense_Mutation	SNP	ENST00000380985.5	37	c.694G>A	CCDS3989.1	.	.	.	.	.	.	.	.	.	.	G	17.17	3.322050	0.60634	.	.	ENSG00000123213	ENST00000380985;ENST00000502464;ENST00000340159	T;T	0.06849	3.25;3.25	5.4	4.52	0.55395	Neurolysin/Thimet oligopeptidase, domain 2 (1);	0.048761	0.85682	D	0.000000	T	0.18964	0.0455	L	0.49640	1.575	0.80722	D	1	B;D	0.67145	0.351;0.996	B;D	0.71656	0.174;0.974	T	0.05257	-1.0896	10	0.06625	T	0.88	-19.8496	15.4166	0.74974	0.0:0.0:0.8598:0.1402	.	232;232	Q9BYT8;Q9BQD0	NEUL_HUMAN;.	K	232;128;232	ENSP00000370372:E232K;ENSP00000423214:E128K	ENSP00000339283:E232K	E	+	1	0	NLN	65112876	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	1.249000	0.43950	0.655000	0.94253	GAA		0.338	NLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215060.1			14	9	0	0	0	1	0	14	9				
ZBTB3	79842	broad.mit.edu	37	11	62521470	62521470	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr11:62521470C>G	ENST00000394807.3	-	1	190	c.65G>C	c.(64-66)aGa>aCa	p.R22T		NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	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)			breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						AAGTAGAGATCTTTTTCGCTC	0.622																																						ENST00000394807.3																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						c.(64-66)aGa>aCa		zinc finger and BTB domain containing 3							99.0	88.0	91.0					11																	62521470		2202	4299	6501	SO:0001583	missense	79842				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:62521470C>G	AK027045	CCDS8034.1	11q12.3	2013-01-09				ENSG00000185670		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	22918	protein-coding gene	gene with protein product							Standard	NM_024784		Approved	FLJ23392	uc001nuz.3	Q9H5J0		ENST00000394807.3:c.65G>C	11.37:g.62521470C>G	ENSP00000378286:p.Arg22Thr						p.R22T	NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN			1	190	-			22						Missense_Mutation	SNP	ENST00000394807.3	37	c.65G>C	CCDS8034.1	.	.	.	.	.	.	.	.	.	.	C	5.340	0.248052	0.10130	.	.	ENSG00000185670	ENST00000394807	T	0.12672	2.66	5.65	2.58	0.30949	.	0.699662	0.12304	N	0.480815	T	0.06600	0.0169	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.38308	-0.9667	10	0.02654	T	1	.	9.0995	0.36660	0.0:0.4684:0.4522:0.0794	.	22	Q9H5J0	ZBTB3_HUMAN	T	22	ENSP00000378286:R22T	ENSP00000378286:R22T	R	-	2	0	ZBTB3	62278046	0.008000	0.16893	0.351000	0.25721	0.006000	0.05464	0.713000	0.25794	0.899000	0.36444	0.655000	0.94253	AGA		0.622	ZBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395342.1	NM_024784		10	65	0	0	0	1	0	10	65				
OR7A5	26659	broad.mit.edu	37	19	14938943	14938943	+	Silent	SNP	G	G	C			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr19:14938943G>C	ENST00000322301.3	-	2	198	c.111C>G	c.(109-111)gtC>gtG	p.V37V	OR7A5_ENST00000594432.1_Silent_p.V37V|OR7A5_ENST00000601611.1_Intron			Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A, member 5	37					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	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(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						CGAGCACAGTGACCAGGTACA	0.493																																						ENST00000322301.3																			0				breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(109-111)gtC>gtG		olfactory receptor, family 7, subfamily A, member 5							71.0	65.0	67.0					19																	14938943		2203	4300	6503	SO:0001819	synonymous_variant	26659				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:14938943G>C	X64976	CCDS12318.1	19p13.1	2012-08-09	2003-12-09			ENSG00000188269		"""GPCR / Class A : Olfactory receptors"""	8368	protein-coding gene	gene with protein product			"""olfactory receptor, family 7, subfamily A, member 5 pseudogene"""				Standard	XM_006722722		Approved	HTPCR2	uc002mzw.3	Q15622		ENST00000322301.3:c.111C>G	19.37:g.14938943G>C						OR7A5_ENST00000601611.1_Intron|OR7A5_ENST00000594432.1_Silent_p.V37V	p.V37V			Q15622	OR7A5_HUMAN			2	198	-			37					B2R682|Q6IFP1|Q96R96	Silent	SNP	ENST00000322301.3	37	c.111C>G	CCDS12318.1																																																																																				0.493	OR7A5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466518.1	NM_017506		19	38	0	0	0	1	0	19	38				
C9orf91	203197	broad.mit.edu	37	9	117399281	117399281	+	Silent	SNP	C	C	G			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr9:117399281C>G	ENST00000288502.4	+	7	1034	c.597C>G	c.(595-597)gtC>gtG	p.V199V	C9orf91_ENST00000374049.4_Silent_p.V200V			Q5VZI3	CI091_HUMAN	chromosome 9 open reading frame 91	199						integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	13						TTTGGTTTGTCTACTTCGACC	0.468																																						ENST00000374049.4																			0				endometrium(2)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	13						c.(598-600)gtC>gtG		chromosome 9 open reading frame 91							170.0	143.0	152.0					9																	117399281		2203	4300	6503	SO:0001819	synonymous_variant	203197					integral to membrane		g.chr9:117399281C>G	BX649023	CCDS6808.1	9q33.1	2008-02-05			ENSG00000157693	ENSG00000157693			24513	protein-coding gene	gene with protein product						14702039	Standard	NM_153045		Approved	DKFZp547P234, FLJ38045	uc004bjd.4	Q5VZI3	OTTHUMG00000020541	ENST00000288502.4:c.597C>G	9.37:g.117399281C>G						C9orf91_ENST00000288502.4_Silent_p.V199V	p.V200V	NM_153045.3	NP_694590.2	Q5VZI3	CI091_HUMAN			7	1037	+			199					A0PJA3|Q3KNS4|Q5VZI2|Q6P5Z7|Q8N1P3|Q8ND43	Silent	SNP	ENST00000288502.4	37	c.600C>G	CCDS6808.1																																																																																				0.468	C9orf91-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053780.1	NM_153045		33	21	0	0	0	1	0	33	21				
TP53	7157	broad.mit.edu	37	17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	rs121912666		TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr17:7578190T>C	ENST00000269305.4	-	6	848	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.Y220C|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C	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	220	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:9450901}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; 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.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(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)	AGGCGGCTCATAGGGCACCAC	0.557		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)	ENST00000420246.2		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"""		343	Substitution - Missense(315)|Unknown(11)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(3)|Insertion - Frameshift(1)	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(1)	ovary(55)|breast(54)|lung(37)|upper_aerodigestive_tract(35)|urinary_tract(19)|oesophagus(19)|large_intestine(17)|liver(17)|central_nervous_system(16)|stomach(15)|haematopoietic_and_lymphoid_tissue(15)|endometrium(14)|soft_tissue(8)|biliary_tract(6)|bone(5)|pancreas(4)|prostate(4)|peritoneum(2)|small_intestine(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	GRCh37	CM015378|CM951227	TP53	M	rs121912666	c.(658-660)tAt>tGt	Other conserved DNA damage response genes	tumor protein p53							102.0	94.0	97.0					17																	7578190		2203	4300	6503	SO:0001583	missense	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.chr17:7578190T>C	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.659A>G	17.37:g.7578190T>C	ENSP00000269305:p.Tyr220Cys	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_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000269305.4_Missense_Mutation_p.Y220C|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C	p.Y220C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	791	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	220		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	Missense_Mutation	SNP	ENST00000269305.4	37	c.659A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.248510	0.80024	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99840	-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08	5.28	5.28	0.74379	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.89287	3.02	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	0.97110	1.0;0.998;0.996;1.0;0.999;0.998;1.0	D	0.96735	0.9542	10	0.87932	D	0	-1.87	13.4753	0.61306	0.0:0.0:0.0:1.0	.	181;220;220;127;220;220;220	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	220;220;220;220;220;220;209;127;88;127	ENSP00000410739:Y220C;ENSP00000352610:Y220C;ENSP00000269305:Y220C;ENSP00000398846:Y220C;ENSP00000391127:Y220C;ENSP00000391478:Y220C;ENSP00000425104:Y88C;ENSP00000423862:Y127C	ENSP00000269305:Y220C	Y	-	2	0	TP53	7518915	1.000000	0.71417	0.585000	0.28666	0.993000	0.82548	6.232000	0.72313	2.128000	0.65567	0.460000	0.39030	TAT		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		4	23	0	0	0	1	0	4	23				
COL20A1	57642	broad.mit.edu	37	20	61957463	61957463	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr20:61957463G>C	ENST00000358894.6	+	30	3518	c.3418G>C	c.(3418-3420)Gag>Cag	p.E1140Q	COL20A1_ENST00000435874.1_Missense_Mutation_p.E1147Q|COL20A1_ENST00000326996.6_Missense_Mutation_p.E1172Q|COL20A1_ENST00000422202.1_Missense_Mutation_p.E1147Q	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	1140	Collagen-like 2.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					GAGAGGCCTGGAGGGAACTGC	0.662																																						ENST00000422202.1																			0				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36						c.(3439-3441)Gag>Cag		collagen, type XX, alpha 1							52.0	62.0	59.0					20																	61957463		1955	4148	6103	SO:0001583	missense	57642				cell adhesion	collagen|extracellular space	structural molecule activity	g.chr20:61957463G>C	BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"""Collagens"", ""Fibronectin type III domain containing"""	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.3418G>C	20.37:g.61957463G>C	ENSP00000351767:p.Glu1140Gln					COL20A1_ENST00000358894.6_Missense_Mutation_p.E1140Q|COL20A1_ENST00000326996.6_Missense_Mutation_p.E1172Q|COL20A1_ENST00000435874.1_Missense_Mutation_p.E1147Q	p.E1147Q			Q9P218	COKA1_HUMAN			29	3507	+	all_cancers(38;1.39e-10)		1140			Collagen-like 2.		Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Missense_Mutation	SNP	ENST00000358894.6	37	c.3439G>C	CCDS46628.1	.	.	.	.	.	.	.	.	.	.	G	17.22	3.334476	0.60853	.	.	ENSG00000101203	ENST00000358894;ENST00000326996;ENST00000435874;ENST00000422202;ENST00000415763;ENST00000455906	D;D;D;D;D;D	0.94280	-3.39;-3.39;-3.39;-3.39;-1.77;-1.77	3.73	3.73	0.42828	.	0.000000	0.85682	U	0.000000	D	0.87641	0.6228	N	0.00869	-1.13	0.37163	D	0.902689	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.88275	0.2932	10	0.29301	T	0.29	.	11.0185	0.47705	0.0:0.0:1.0:0.0	.	1147;1140	Q9P218-2;Q9P218	.;COKA1_HUMAN	Q	1140;1172;1147;1147;275;130	ENSP00000351767:E1140Q;ENSP00000323077:E1172Q;ENSP00000408690:E1147Q;ENSP00000414753:E1147Q;ENSP00000410799:E275Q;ENSP00000406345:E130Q	ENSP00000323077:E1172Q	E	+	1	0	COL20A1	61427908	1.000000	0.71417	1.000000	0.80357	0.663000	0.39108	6.286000	0.72665	1.644000	0.50603	0.491000	0.48974	GAG		0.662	COL20A1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000144595.2	NM_020882		32	61	0	0	0	1	0	32	61				
CEP72	55722	broad.mit.edu	37	5	639244	639244	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr5:639244C>T	ENST00000264935.5	+	8	1337	c.1247C>T	c.(1246-1248)aCg>aTg	p.T416M	CEP72_ENST00000444221.1_3'UTR	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	416					G2/M transition of mitotic cell cycle (GO:0000086)|gamma-tubulin complex localization (GO:0033566)|mitotic cell cycle (GO:0000278)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			GGGAAGAAGACGGCCCTGCAG	0.632																																						ENST00000264935.5																			0				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20						c.(1246-1248)aCg>aTg		centrosomal protein 72kDa							36.0	41.0	39.0					5																	639244		2203	4300	6503	SO:0001583	missense	55722				G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol		g.chr5:639244C>T	BC000132	CCDS34126.1	5p15.33	2014-02-20			ENSG00000112877	ENSG00000112877			25547	protein-coding gene	gene with protein product						10819331	Standard	NM_018140		Approved	KIAA1519, FLJ10565	uc003jbf.3	Q9P209	OTTHUMG00000161745	ENST00000264935.5:c.1247C>T	5.37:g.639244C>T	ENSP00000264935:p.Thr416Met					CEP72_ENST00000444221.1_3'UTR	p.T416M	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)		8	1337	+			416					B4DR26|Q9BV03|Q9BWM3|Q9NVR4	Missense_Mutation	SNP	ENST00000264935.5	37	c.1247C>T	CCDS34126.1	.	.	.	.	.	.	.	.	.	.	C	13.84	2.356063	0.41700	.	.	ENSG00000112877	ENST00000264935	T	0.32515	1.45	4.12	3.15	0.36227	.	0.722427	0.13009	N	0.420990	T	0.23926	0.0579	L	0.46157	1.445	0.09310	N	0.999993	D	0.56287	0.975	B	0.38880	0.284	T	0.18147	-1.0346	10	0.62326	D	0.03	-1.7428	8.3615	0.32361	0.2342:0.7657:0.0:0.0	.	416	Q9P209	CEP72_HUMAN	M	416	ENSP00000264935:T416M	ENSP00000264935:T416M	T	+	2	0	CEP72	692244	0.000000	0.05858	0.003000	0.11579	0.001000	0.01503	0.466000	0.22019	2.221000	0.72209	0.462000	0.41574	ACG		0.632	CEP72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365967.3	NM_018140		17	132	0	0	0	1	0	17	132				
A1CF	29974	broad.mit.edu	37	10	52595898	52595898	+	Silent	SNP	G	G	A			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr10:52595898G>A	ENST00000373993.1	-	4	584	c.540C>T	c.(538-540)ggC>ggT	p.G180G	A1CF_ENST00000395489.2_Silent_p.G173G|A1CF_ENST00000373995.3_Silent_p.G188G|A1CF_ENST00000395495.1_Silent_p.G180G|A1CF_ENST00000373997.3_Silent_p.G180G|A1CF_ENST00000374001.2_Silent_p.G180G|A1CF_ENST00000282641.2_Silent_p.G180G			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	180	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cytidine to uridine editing (GO:0016554)|gene expression (GO:0010467)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|protein stabilization (GO:0050821)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						CGAAGGCAAAGCCTCGGTTTT	0.473																																						ENST00000395489.2																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						c.(517-519)ggC>ggT		APOBEC1 complementation factor							144.0	135.0	138.0					10																	52595898		2203	4300	6503	SO:0001819	synonymous_variant	29974				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	g.chr10:52595898G>A	AF271790	CCDS7241.1, CCDS7242.1, CCDS7243.1, CCDS73133.1	10q21.1	2013-02-12			ENSG00000148584	ENSG00000148584		"""RNA binding motif (RRM) containing"""	24086	protein-coding gene	gene with protein product						11815617, 11072063	Standard	NM_014576		Approved	ACF, ASP, ACF64, ACF65, APOBEC1CF	uc001jjj.3	Q9NQ94	OTTHUMG00000018240	ENST00000373993.1:c.540C>T	10.37:g.52595898G>A						A1CF_ENST00000373997.3_Silent_p.G180G|A1CF_ENST00000373993.1_Silent_p.G180G|A1CF_ENST00000374001.1_Silent_p.G180G|A1CF_ENST00000282641.2_Silent_p.G180G|A1CF_ENST00000373995.3_Silent_p.G188G|A1CF_ENST00000395495.1_Silent_p.G180G	p.G173G	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN			8	915	-			180			RRM 2.		A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	Silent	SNP	ENST00000373993.1	37	c.519C>T	CCDS7242.1																																																																																				0.473	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048086.2	NM_014576		20	43	0	0	0	1	0	20	43				
ZDHHC9	51114	broad.mit.edu	37	X	128963075	128963075	+	Silent	SNP	T	T	C			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chrX:128963075T>C	ENST00000357166.6	-	4	601	c.210A>G	c.(208-210)gtA>gtG	p.V70V	ZDHHC9_ENST00000371064.3_Silent_p.V70V	NM_016032.3	NP_057116.2	Q9Y397	ZDHC9_HUMAN	zinc finger, DHHC-type containing 9	70					peptidyl-L-cysteine S-palmitoylation (GO:0018230)|protein palmitoylation (GO:0018345)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|palmitoyltransferase complex (GO:0002178)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|Ras palmitoyltransferase activity (GO:0043849)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	19						TGGCAGCAAATACAGGGATGG	0.498																																						ENST00000357166.6																			0				breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	19						c.(208-210)gtA>gtG		zinc finger, DHHC-type containing 9							112.0	88.0	96.0					X																	128963075		2203	4300	6503	SO:0001819	synonymous_variant	51114					endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acyltransferase activity|zinc ion binding	g.chrX:128963075T>C	AF151847	CCDS35395.1	Xq26.1	2008-02-05			ENSG00000188706	ENSG00000188706		"""Zinc fingers, DHHC-type"""	18475	protein-coding gene	gene with protein product		300646	"""zinc finger, DHHC-type containing 10"", ""chromosome X open reading frame 11"""	ZDHHC10, CXorf11		10810093	Standard	NM_001008222		Approved	ZNF379, CGI-89, ZNF380	uc004euw.3	Q9Y397	OTTHUMG00000022375	ENST00000357166.6:c.210A>G	X.37:g.128963075T>C						ZDHHC9_ENST00000371064.3_Silent_p.V70V	p.V70V	NM_016032.3	NP_057116.2	Q9Y397	ZDHC9_HUMAN			4	601	-			70					B4F6G2|D3DTF9|Q59EK4|Q5JSW5|Q8WWS7|Q9BPY4|Q9NSP0|Q9NVL0|Q9NVR6	Silent	SNP	ENST00000357166.6	37	c.210A>G	CCDS35395.1	.	.	.	.	.	.	.	.	.	.	t	9.734	1.163040	0.21538	.	.	ENSG00000188706	ENST00000433917	.	.	.	5.7	3.9	0.45041	.	.	.	.	.	T	0.60064	0.2240	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57027	-0.7881	4	.	.	.	-12.0305	9.9457	0.41607	0.0:0.6408:0.2696:0.0895	.	.	.	.	C	30	.	.	Y	-	2	0	ZDHHC9	128790756	0.996000	0.38824	1.000000	0.80357	0.978000	0.69477	0.368000	0.20399	1.153000	0.42468	-0.202000	0.12741	TAT		0.498	ZDHHC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058213.1	NM_016032		55	16	0	0	0	1	0	55	16				
ATP6AP1	537	broad.mit.edu	37	X	153663828	153663828	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chrX:153663828C>G	ENST00000369762.2	+	9	1241	c.1180C>G	c.(1180-1182)Cag>Gag	p.Q394E	GDI1_ENST00000447750.2_5'Flank	NM_001183.4	NP_001174.2	Q15904	VAS1_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1	394					ATP hydrolysis coupled proton transport (GO:0015991)|establishment of organelle localization (GO:0051656)|pH reduction (GO:0045851)|positive regulation of bone resorption (GO:0045780)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoclast development (GO:2001206)|proton transport (GO:0015992)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|vacuole (GO:0005773)	ATP binding (GO:0005524)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTCTCCCTGGCAGATGATGCT	0.617																																						ENST00000369762.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14						c.(1180-1182)Cag>Gag		ATPase, H+ transporting, lysosomal accessory protein 1							39.0	36.0	37.0					X																	153663828		2203	4299	6502	SO:0001583	missense	537				ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain|vacuolar membrane	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chrX:153663828C>G	D16469	CCDS35451.1	Xq28	2010-03-10	2003-08-28	2003-08-29	ENSG00000071553	ENSG00000071553			868	protein-coding gene	gene with protein product		300197	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), subunit 1"""	ATP6S1, ATP6IP1		8733135, 8281148	Standard	NM_001183		Approved	ORF, XAP-3, VATPS1, 16A, Ac45, XAP3, CF2	uc004flf.1	Q15904	OTTHUMG00000033291	ENST00000369762.2:c.1180C>G	X.37:g.153663828C>G	ENSP00000358777:p.Gln394Glu						p.Q394E	NM_001183.4	NP_001174.2	Q15904	VAS1_HUMAN			9	1241	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		394					A6ZKI4|Q8NBT4|Q9H0C7	Missense_Mutation	SNP	ENST00000369762.2	37	c.1180C>G	CCDS35451.1	.	.	.	.	.	.	.	.	.	.	C	1.841	-0.467513	0.04476	.	.	ENSG00000071553	ENST00000369762;ENST00000445849	.	.	.	5.69	1.74	0.24563	.	0.797682	0.12620	N	0.453094	T	0.22244	0.0536	N	0.16368	0.405	0.28350	N	0.920969	B;B	0.09022	0.001;0.002	B;B	0.09377	0.004;0.004	T	0.29181	-1.0020	9	0.08179	T	0.78	0.6532	8.5669	0.33545	0.2775:0.4572:0.2653:0.0	.	354;394	B3KR70;Q15904	.;VAS1_HUMAN	E	394;218	.	ENSP00000358777:Q394E	Q	+	1	0	ATP6AP1	153317022	0.862000	0.29867	0.397000	0.26308	0.002000	0.02628	1.031000	0.30165	0.200000	0.20447	-0.970000	0.02610	CAG		0.617	ATP6AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081639.4	NM_001183		8	48	0	0	0	1	0	8	48				
PRDM2	7799	broad.mit.edu	37	1	14105784	14105784	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr1:14105784G>C	ENST00000235372.7	+	8	2350	c.1494G>C	c.(1492-1494)atG>atC	p.M498I	PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.M297I|PRDM2_ENST00000413440.1_Missense_Mutation_p.M297I|PRDM2_ENST00000311066.5_Missense_Mutation_p.M498I|PRDM2_ENST00000503842.1_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	498					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		ATACTAATATGAGACGGCATC	0.448																																						ENST00000235372.7																			0				endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55						c.(1492-1494)atG>atC		PR domain containing 2, with ZNF domain							40.0	39.0	39.0					1																	14105784		2203	4300	6503	SO:0001583	missense	7799					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:14105784G>C	U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"""Chromatin-modifying enzymes / K-methyltransferases"""	9347	protein-coding gene	gene with protein product	"""retinoblastoma protein-binding zinc finger protein"", ""retinoblastoma protein-interacting zinc finger protein"", ""MTE-binding protein"", ""zinc-finger DNA-binding protein"", ""GATA-3 binding protein G3B"""	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.1494G>C	1.37:g.14105784G>C	ENSP00000235372:p.Met498Ile					PRDM2_ENST00000343137.4_Missense_Mutation_p.M297I|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.M297I|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.M498I	p.M498I	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)	8	2350	+	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	498					B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Missense_Mutation	SNP	ENST00000235372.7	37	c.1494G>C	CCDS150.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.169611	0.57584	.	.	ENSG00000116731	ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137	T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03	5.62	5.62	0.85841	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.000000	0.85682	D	0.000000	D	0.83188	0.5200	L	0.32530	0.975	0.80722	D	1	D;D;D;D	0.76494	0.997;0.999;0.998;0.997	D;D;D;D	0.81914	0.993;0.995;0.993;0.987	D	0.84060	0.0374	10	0.56958	D	0.05	.	18.2252	0.89915	0.0:0.0:1.0:0.0	.	498;356;498;498	A8MW16;Q5THJ0;Q13029;Q13029-2	.;.;PRDM2_HUMAN;.	I	498;498;498;297;297	ENSP00000235372:M498I;ENSP00000312352:M498I;ENSP00000411103:M297I;ENSP00000341621:M297I	ENSP00000235372:M498I	M	+	3	0	PRDM2	13978371	1.000000	0.71417	0.995000	0.50966	0.846000	0.48090	9.476000	0.97823	2.633000	0.89246	0.655000	0.94253	ATG		0.448	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231		15	34	0	0	0	1	0	15	34				
SIGLEC9	27180	broad.mit.edu	37	19	51628875	51628875	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr19:51628875T>A	ENST00000250360.3	+	2	510	c.443T>A	c.(442-444)aTc>aAc	p.I148N	SIGLEC9_ENST00000440804.3_Missense_Mutation_p.I148N	NM_014441.2	NP_055256.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	148	Ig-like C2-type 1.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		AGGCCCAACATCCTCATCCCA	0.632																																						ENST00000440804.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45						c.(442-444)aTc>aAc		sialic acid binding Ig-like lectin 9							110.0	107.0	108.0					19																	51628875		2203	4300	6503	SO:0001583	missense	27180				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding	g.chr19:51628875T>A	AF135027	CCDS12825.1, CCDS56100.1	19q13.3-q13.4	2013-01-29			ENSG00000129450	ENSG00000129450		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10878	protein-coding gene	gene with protein product		605640				10903842	Standard	NM_014441		Approved	CD329	uc002pvu.3	Q9Y336		ENST00000250360.3:c.443T>A	19.37:g.51628875T>A	ENSP00000250360:p.Ile148Asn					SIGLEC9_ENST00000250360.3_Missense_Mutation_p.I148N	p.I148N	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)	2	510	+		all_neural(266;0.0529)	148			Ig-like C2-type 1.		Q6GTU4|Q9BYI9	Missense_Mutation	SNP	ENST00000250360.3	37	c.443T>A	CCDS12825.1	.	.	.	.	.	.	.	.	.	.	.	13.70	2.314060	0.40996	.	.	ENSG00000129450	ENST00000440804;ENST00000250360	T;T	0.05081	3.5;3.5	2.79	2.79	0.32731	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.41823	D	0.000805	T	0.26195	0.0639	M	0.91196	3.185	0.09310	N	1	D	0.89917	1.0	D	0.72338	0.977	T	0.04991	-1.0913	10	0.87932	D	0	.	7.0197	0.24907	0.0:0.0:0.0:1.0	.	148	Q9Y336	SIGL9_HUMAN	N	148	ENSP00000413861:I148N;ENSP00000250360:I148N	ENSP00000250360:I148N	I	+	2	0	SIGLEC9	56320687	0.002000	0.14202	0.019000	0.16419	0.063000	0.16089	1.141000	0.31528	1.123000	0.41961	0.421000	0.28195	ATC		0.632	SIGLEC9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464224.1	NM_014441		66	94	0	0	0	1	0	66	94				
IMPG2	50939	broad.mit.edu	37	3	100962873	100962873	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr3:100962873G>A	ENST00000193391.7	-	13	2489	c.2302C>T	c.(2302-2304)Cca>Tca	p.P768S		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	768					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	TGCATATCTGGCTTTACCATT	0.403																																						ENST00000193391.7																			0				NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(2302-2304)Cca>Tca		interphotoreceptor matrix proteoglycan 2							138.0	139.0	139.0					3																	100962873		2203	4300	6503	SO:0001583	missense	50939				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity	g.chr3:100962873G>A	AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.2302C>T	3.37:g.100962873G>A	ENSP00000193391:p.Pro768Ser						p.P768S	NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN			13	2489	-			768					A8MWT5|Q9UKD4|Q9UKK5	Missense_Mutation	SNP	ENST00000193391.7	37	c.2302C>T	CCDS2940.1	.	.	.	.	.	.	.	.	.	.	G	1.194	-0.634382	0.03584	.	.	ENSG00000081148	ENST00000193391	T	0.18960	2.18	5.81	0.165	0.14995	.	0.337609	0.28921	N	0.013718	T	0.08846	0.0219	N	0.12746	0.255	0.09310	N	1	B;B	0.17038	0.02;0.02	B;B	0.12156	0.007;0.005	T	0.17776	-1.0358	10	0.45353	T	0.12	-1.0897	3.1725	0.06558	0.2353:0.1219:0.5184:0.1244	.	768;768	F1T0J3;Q9BZV3	.;IMPG2_HUMAN	S	768	ENSP00000193391:P768S	ENSP00000193391:P768S	P	-	1	0	IMPG2	102445563	0.065000	0.20965	0.042000	0.18584	0.244000	0.25665	0.619000	0.24388	0.076000	0.16826	0.655000	0.94253	CCA		0.403	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353256.3			31	51	0	0	0	1	0	31	51				
MUC16	94025	broad.mit.edu	37	19	9089884	9089884	+	Missense_Mutation	SNP	G	G	A	rs546209001		TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr19:9089884G>A	ENST00000397910.4	-	1	2134	c.1931C>T	c.(1930-1932)aCg>aTg	p.T644M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	644	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GACACCGTTCGTGGCCAGAGT	0.562																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(1930-1932)aCg>aTg		mucin 16, cell surface associated							120.0	123.0	122.0					19																	9089884		2162	4276	6438	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9089884G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.1931C>T	19.37:g.9089884G>A	ENSP00000381008:p.Thr644Met						p.T644M	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	2134	-			644			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.1931C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	2.638	-0.284919	0.05605	.	.	ENSG00000181143	ENST00000397910	T	0.02579	4.24	1.56	-0.98	0.10272	.	.	.	.	.	T	0.01421	0.0046	N	0.08118	0	.	.	.	B	0.23854	0.092	B	0.06405	0.002	T	0.46679	-0.9174	8	0.87932	D	0	.	1.5411	0.02555	0.4788:0.0:0.2182:0.303	.	644	B5ME49	.	M	644	ENSP00000381008:T644M	ENSP00000381008:T644M	T	-	2	0	MUC16	8950884	0.000000	0.05858	0.000000	0.03702	0.123000	0.20343	-1.823000	0.01710	-0.344000	0.08338	0.205000	0.17691	ACG		0.562	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		27	94	0	0	0	1	0	27	94				
SOCS2	8835	broad.mit.edu	37	12	93968681	93968681	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr12:93968681C>A	ENST00000340600.2	+	3	921	c.323C>A	c.(322-324)tCt>tAt	p.S108Y	SOCS2_ENST00000548537.1_3'UTR|SOCS2_ENST00000549122.1_Missense_Mutation_p.S108Y|SOCS2_ENST00000549206.1_Missense_Mutation_p.S108Y|SOCS2_ENST00000536696.2_Missense_Mutation_p.S108Y|SOCS2_ENST00000551556.1_Missense_Mutation_p.S108Y	NM_001270468.1|NM_001270469.1|NM_001270471.1|NM_003877.4	NP_001257397.1|NP_001257398.1|NP_001257400.1|NP_003868.1	O14508	SOCS2_HUMAN	suppressor of cytokine signaling 2	108	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cellular response to hormone stimulus (GO:0032870)|growth hormone receptor signaling pathway (GO:0060396)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of signal transduction (GO:0009967)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)|regulation of signal transduction (GO:0009966)|response to estradiol (GO:0032355)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	growth hormone receptor binding (GO:0005131)|insulin-like growth factor receptor binding (GO:0005159)|JAK pathway signal transduction adaptor activity (GO:0008269)|SH3/SH2 adaptor activity (GO:0005070)			cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)	14						AGATTGGACTCTATCATATGT	0.398																																						ENST00000340600.2																			0				cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)	14						c.(322-324)tCt>tAt		suppressor of cytokine signaling 2							84.0	79.0	81.0					12																	93968681		2203	4300	6503	SO:0001583	missense	8835				anti-apoptosis|growth hormone receptor signaling pathway|JAK-STAT cascade|negative regulation of signal transduction|regulation of cell growth|response to estradiol stimulus	cytoplasm	growth hormone receptor binding|insulin-like growth factor receptor binding|JAK pathway signal transduction adaptor activity|prolactin receptor binding|SH3/SH2 adaptor activity	g.chr12:93968681C>A	AF037989	CCDS9047.1	12q	2013-02-14			ENSG00000120833	ENSG00000120833		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	19382	protein-coding gene	gene with protein product	"""STAT-induced STAT inhibitor-2"""	605117				9344848, 9266833	Standard	NM_003877		Approved	STATI2, SSI2, SOCS-2, SSI-2, CIS2, Cish2	uc031qjc.1	O14508		ENST00000340600.2:c.323C>A	12.37:g.93968681C>A	ENSP00000339428:p.Ser108Tyr					SOCS2_ENST00000549122.1_Missense_Mutation_p.S108Y|SOCS2_ENST00000551556.1_Missense_Mutation_p.S108Y|SOCS2_ENST00000549206.1_Missense_Mutation_p.S108Y|SOCS2_ENST00000548537.1_3'UTR|SOCS2_ENST00000536696.2_Missense_Mutation_p.S108Y	p.S108Y	NM_001270468.1|NM_001270469.1|NM_001270471.1|NM_003877.4	NP_001257397.1|NP_001257398.1|NP_001257400.1|NP_003868.1	O14508	SOCS2_HUMAN			3	921	+			108			SH2.		A8K3D1|O14542|O95102|Q9UKS5	Missense_Mutation	SNP	ENST00000340600.2	37	c.323C>A	CCDS9047.1	.	.	.	.	.	.	.	.	.	.	C	15.90	2.970821	0.53614	.	.	ENSG00000120833	ENST00000340600;ENST00000549206;ENST00000536696;ENST00000539385;ENST00000548091;ENST00000549122;ENST00000549887;ENST00000551556	T;T;T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53;1.53;1.53	5.84	5.84	0.93424	SH2 motif (4);	0.000000	0.85682	D	0.000000	T	0.68641	0.3023	M	0.93720	3.45	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76372	-0.2983	10	0.87932	D	0	-1.6669	20.1346	0.98019	0.0:1.0:0.0:0.0	.	108	O14508	SOCS2_HUMAN	Y	108;108;108;56;108;108;108;108	ENSP00000339428:S108Y;ENSP00000448815:S108Y;ENSP00000442898:S108Y;ENSP00000447902:S108Y;ENSP00000447161:S108Y;ENSP00000448611:S108Y;ENSP00000449227:S108Y	ENSP00000339428:S108Y	S	+	2	0	SOCS2	92492812	1.000000	0.71417	1.000000	0.80357	0.057000	0.15508	7.554000	0.82212	2.765000	0.95021	0.655000	0.94253	TCT		0.398	SOCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407731.2			13	37	1	0	2.27111e-07	1	2.34853e-07	13	37				
YTHDF2	51441	broad.mit.edu	37	1	29069845	29069845	+	Missense_Mutation	SNP	C	C	T	rs370101470		TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr1:29069845C>T	ENST00000373812.3	+	4	1425	c.1063C>T	c.(1063-1065)Cgg>Tgg	p.R355W	YTHDF2_ENST00000541996.1_Missense_Mutation_p.R305W|YTHDF2_ENST00000542507.1_Missense_Mutation_p.R355W|YTHDF2_ENST00000478283.1_3'UTR	NM_016258.2	NP_057342.2	Q9Y5A9	YTHD2_HUMAN	YTH domain family, member 2	355	Localization to mRNA processing bodies (P-bodies).				humoral immune response (GO:0006959)|regulation of mRNA stability (GO:0043488)	cytoplasmic mRNA processing body (GO:0000932)	N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)	p.R355W(2)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		GGTAGCACCTCGGAACCGTGG	0.582																																						ENST00000373812.3																			2	Substitution - Missense(2)	p.R355W(2)	ovary(1)|NS(1)	NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1063-1065)Cgg>Tgg		YTH domain family, member 2		C	TRP/ARG,TRP/ARG,TRP/ARG	0,3994		0,0,1997	98.0	97.0	97.0		913,1063,1063	5.9	1.0	1		97	1,8369		0,1,4184	no	missense,missense,missense	YTHDF2	NM_001172828.1,NM_001173128.1,NM_016258.2	101,101,101	0,1,6181	TT,TC,CC		0.0119,0.0,0.0081	probably-damaging,probably-damaging,probably-damaging	305/530,355/580,355/580	29069845	1,12363	1997	4185	6182	SO:0001583	missense	51441				humoral immune response			g.chr1:29069845C>T	AF155095	CCDS41296.1, CCDS53287.1	1p35	2008-02-05	2004-11-16		ENSG00000198492	ENSG00000198492			31675	protein-coding gene	gene with protein product		610640	"""YTH domain family 2"""			10508479	Standard	NM_016258		Approved	HGRG8, NY-REN-2	uc021okf.1	Q9Y5A9	OTTHUMG00000003648	ENST00000373812.3:c.1063C>T	1.37:g.29069845C>T	ENSP00000362918:p.Arg355Trp					YTHDF2_ENST00000542507.1_Missense_Mutation_p.R355W|YTHDF2_ENST00000541996.1_Missense_Mutation_p.R305W|YTHDF2_ENST00000478283.1_3'UTR	p.R355W	NM_016258.2	NP_057342.2	Q9Y5A9	YTHD2_HUMAN		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)	4	1425	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	355					A6NKG4|A8K966|B4E1G7|D3DPM8|Q5VSZ9|Q8TDH0|Q9BUJ5	Missense_Mutation	SNP	ENST00000373812.3	37	c.1063C>T	CCDS41296.1	.	.	.	.	.	.	.	.	.	.	C	18.35	3.604094	0.66445	0.0	1.19E-4	ENSG00000198492	ENST00000542507;ENST00000373812;ENST00000541996;ENST00000396232	T;T;T	0.59364	0.27;0.27;0.27	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.73249	0.3563	M	0.67397	2.05	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.72147	-0.4378	9	.	.	.	.	13.9701	0.64235	0.1518:0.8482:0.0:0.0	.	355;355	B5BU99;Q9Y5A9	.;YTHD2_HUMAN	W	355;355;305;355	ENSP00000444660:R355W;ENSP00000362918:R355W;ENSP00000439394:R305W	.	R	+	1	2	YTHDF2	28942432	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.861000	0.69553	2.802000	0.96397	0.655000	0.94253	CGG		0.582	YTHDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010335.1	NM_016258		41	103	0	0	0	1	0	41	103				
CREBBP	1387	broad.mit.edu	37	16	3819250	3819250	+	Silent	SNP	C	C	T			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr16:3819250C>T	ENST00000262367.5	-	15	3794	c.2985G>A	c.(2983-2985)ctG>ctA	p.L995L	CREBBP_ENST00000382070.3_Silent_p.L957L	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	995					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TCTTCATTTCCAGCACAGGTA	0.602			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															ENST00000262367.5				Dom/Rec	yes		16	16p13.3	1387	"""T, N, F, Mis, O"""	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	"""MLL, MORF, RUNXBP2"""		"""ALL, AML, DLBCL, B-NHL """		0				NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295						c.(2983-2985)ctG>ctA		CREB binding protein							116.0	100.0	105.0					16																	3819250		2197	4300	6497	SO:0001819	synonymous_variant	1387				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3819250C>T	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.2985G>A	16.37:g.3819250C>T						CREBBP_ENST00000382070.3_Silent_p.L957L	p.L995L	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	15	3794	-		Ovarian(90;0.0266)	995					D3DUC9|O00147|Q16376|Q4LE28	Silent	SNP	ENST00000262367.5	37	c.2985G>A	CCDS10509.1																																																																																				0.602	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		16	66	0	0	0	1	0	16	66				
CIPC	85457	broad.mit.edu	37	14	77576214	77576214	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr14:77576214G>A	ENST00000361786.2	+	3	513	c.196G>A	c.(196-198)Gcc>Acc	p.A66T	KIAA1737_ENST00000555437.1_Intron|KIAA1737_ENST00000555611.1_Missense_Mutation_p.A66T|RP11-463C8.4_ENST00000557752.1_Intron	NM_033426.2	NP_219494.2	Q9C0C6	CIPC_HUMAN		66					negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(2)|lung(4)|prostate(3)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0284)		CATGCTGAGCGCCTTAGGCTG	0.547																																						ENST00000361786.2																			0				endometrium(2)|lung(4)|prostate(3)	9						c.(196-198)Gcc>Acc		KIAA1737							122.0	113.0	116.0					14																	77576214		2203	4300	6503	SO:0001583	missense	85457							g.chr14:77576214G>A																												ENST00000361786.2:c.196G>A	14.37:g.77576214G>A	ENSP00000355319:p.Ala66Thr					KIAA1737_ENST00000555611.1_Missense_Mutation_p.A66T|RP11-463C8.4_ENST00000557752.1_Intron|KIAA1737_ENST00000555437.1_Intron	p.A66T	NM_033426.2	NP_219494.2	Q9C0C6	K1737_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0284)	3	513	+			66					B2RCI1|Q8N389|Q8NDZ1	Missense_Mutation	SNP	ENST00000361786.2	37	c.196G>A	CCDS9855.1	.	.	.	.	.	.	.	.	.	.	G	12.30	1.897649	0.33535	.	.	ENSG00000198894	ENST00000361786;ENST00000555611;ENST00000554658;ENST00000557115;ENST00000554447;ENST00000555200	T;T;T;T;T;T	0.44881	1.53;0.91;0.94;0.94;0.94;0.94	6.17	3.03	0.35002	.	0.641580	0.15760	N	0.245994	T	0.16214	0.0390	N	0.05554	-0.025	0.32414	N	0.55024	B	0.20261	0.043	B	0.06405	0.002	T	0.20773	-1.0265	10	0.08837	T	0.75	-18.8138	3.2832	0.06922	0.2971:0.2121:0.4907:0.0	.	66	Q9C0C6	K1737_HUMAN	T	66	ENSP00000355319:A66T;ENSP00000450972:A66T;ENSP00000451522:A66T;ENSP00000452589:A66T;ENSP00000452380:A66T;ENSP00000451493:A66T	ENSP00000355319:A66T	A	+	1	0	KIAA1737	76645967	0.000000	0.05858	1.000000	0.80357	0.981000	0.71138	0.140000	0.16056	1.616000	0.50265	0.655000	0.94253	GCC		0.547	KIAA1737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414278.1			41	74	0	0	0	1	0	41	74				
TRRAP	8295	broad.mit.edu	37	7	98503829	98503829	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr7:98503829G>C	ENST00000359863.4	+	13	1275	c.1066G>C	c.(1066-1068)Gat>Cat	p.D356H	TRRAP_ENST00000355540.3_Missense_Mutation_p.D356H|TRRAP_ENST00000446306.3_Missense_Mutation_p.D356H	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	356					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CAAGCTGTTTGATGAATCCAT	0.388																																						ENST00000359863.4																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(1066-1068)Gat>Cat		transformation/transcription domain-associated protein							202.0	174.0	183.0					7																	98503829		2203	4300	6503	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98503829G>C	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.1066G>C	7.37:g.98503829G>C	ENSP00000352925:p.Asp356His					TRRAP_ENST00000446306.3_Missense_Mutation_p.D356H|TRRAP_ENST00000355540.3_Missense_Mutation_p.D356H	p.D356H	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		13	1275	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		356					A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.1066G>C	CCDS59066.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.2|22.2	4.254388|4.254388	0.80135|0.80135	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306|ENST00000456197	T;T|.	0.66460|.	3.52;-0.21|.	5.83|5.83	5.83|5.83	0.93111|0.93111	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.85995|0.85995	0.5827|0.5827	M|M	0.90483|0.90483	3.12|3.12	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;0.999;0.999|.	D;D;D|.	0.83275|.	0.996;0.99;0.99|.	D|D	0.87413|0.87413	0.2377|0.2377	10|5	0.87932|.	D|.	0|.	.|.	20.127|20.127	0.97984|0.97984	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	356;70;356|.	Q9Y4A5-2;Q59FH1;Q9Y4A5|.	.;.;TRRAP_HUMAN|.	H|F	356|70	ENSP00000352925:D356H;ENSP00000347733:D356H|.	ENSP00000347733:D356H|.	D|L	+|+	1|3	0|2	TRRAP|TRRAP	98341765|98341765	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.465000|9.465000	0.97660|0.97660	2.775000|2.775000	0.95449|0.95449	0.585000|0.585000	0.79938|0.79938	GAT|TTG		0.388	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		12	135	0	0	0	1	0	12	135				
ZNF181	339318	broad.mit.edu	37	19	35230525	35230525	+	Splice_Site	SNP	A	A	T			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr19:35230525A>T	ENST00000492450.1	+	3	317	c.228A>T	c.(226-228)ccA>ccT	p.P76P	ZNF181_ENST00000459757.2_Splice_Site_p.P75P|ZNF181_ENST00000392232.3_Splice_Site_p.P120P			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	76	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			GTATGATTCCAGGTGAGTCAT	0.398																																						ENST00000392232.3																			0				endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22						c.e5+1		zinc finger protein 181							131.0	126.0	127.0					19																	35230525		2203	4300	6503	SO:0001630	splice_region_variant	339318				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35230525A>T	BC104759, H54888	CCDS32990.2, CCDS46043.1	19q13.13	2013-01-08	2006-04-27		ENSG00000197841	ENSG00000197841		"""Zinc fingers, C2H2-type"", ""-"""	12971	protein-coding gene	gene with protein product		606741	"""zinc finger protein 181 (HHZ181)"""				Standard	NM_001029997		Approved	HHZ181, MGC44316	uc002nvu.3	Q2M3W8	OTTHUMG00000157508	ENST00000492450.1:c.229+1A>T	19.37:g.35230525A>T						ZNF181_ENST00000492450.1_Splice_Site_p.P76_splice|ZNF181_ENST00000459757.1_Splice_Site_p.P75_splice	p.P120_splice			Q2M3W8	ZN181_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.138)		5	528	+	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		76					B7ZKX3|Q49A75	Splice_Site	SNP	ENST00000492450.1	37	c.361_splice	CCDS32990.2																																																																																				0.398	ZNF181-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349005.3	NM_001029997	Silent	3	55	0	0	0	1	0	3	55				
ALDH6A1	4329	broad.mit.edu	37	14	74538942	74538942	+	Silent	SNP	G	G	C			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr14:74538942G>C	ENST00000553458.1	-	4	410	c.312C>G	c.(310-312)gtC>gtG	p.V104V	ALDH6A1_ENST00000556852.1_5'UTR|ALDH6A1_ENST00000555126.1_5'Flank|CCDC176_ENST00000553773.1_Intron|ALDH6A1_ENST00000350259.4_Intron|AC005484.5_ENST00000492026.1_RNA	NM_001278593.1|NM_005589.2	NP_001265522.1|NP_005580.1	Q02252	MMSA_HUMAN	aldehyde dehydrogenase 6 family, member A1	104					branched-chain amino acid catabolic process (GO:0009083)|brown fat cell differentiation (GO:0050873)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|thymine metabolic process (GO:0019859)|valine catabolic process (GO:0006574)|valine metabolic process (GO:0006573)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	fatty-acyl-CoA binding (GO:0000062)|malonate-semialdehyde dehydrogenase (acetylating) activity (GO:0018478)|methylmalonate-semialdehyde dehydrogenase (acylating) activity (GO:0004491)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21				BRCA - Breast invasive adenocarcinoma(234;0.00354)		AGCGGAGCAAGACCTGCTGGC	0.463																																						ENST00000553458.1																			0				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21						c.(310-312)gtC>gtG		aldehyde dehydrogenase 6 family, member A1	NADH(DB00157)						78.0	77.0	77.0					14																	74538942		2203	4300	6503	SO:0001819	synonymous_variant	4329					mitochondrial matrix|nucleus	fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity	g.chr14:74538942G>C	M93405	CCDS9826.1, CCDS61501.1	14q24.3	2014-02-03			ENSG00000119711	ENSG00000119711	1.2.1.27	"""Aldehyde dehydrogenases"""	7179	protein-coding gene	gene with protein product		603178		MMSDH		1527093	Standard	NM_005589		Approved		uc001xpo.3	Q02252	OTTHUMG00000171203	ENST00000553458.1:c.312C>G	14.37:g.74538942G>C						CCDC176_ENST00000553773.1_Intron|AC005484.5_ENST00000492026.1_RNA|ALDH6A1_ENST00000350259.4_Intron|ALDH6A1_ENST00000556852.1_5'UTR	p.V104V	NM_001278593.1|NM_005589.2	NP_001265522.1|NP_005580.1	Q02252	MMSA_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00354)	4	410	-			104					B2R609|B4DFS8|J3KNU8|Q9UKM8	Silent	SNP	ENST00000553458.1	37	c.312C>G	CCDS9826.1																																																																																				0.463	ALDH6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412309.1			28	26	0	0	0	1	0	28	26				
ICAM3	3385	broad.mit.edu	37	19	10444839	10444839	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr19:10444839C>G	ENST00000160262.5	-	6	1646	c.1438G>C	c.(1438-1440)Gag>Cag	p.E480Q	ICAM3_ENST00000589261.1_Missense_Mutation_p.E403Q|RAVER1_ENST00000293677.6_5'Flank	NM_002162.3	NP_002153.2	P32942	ICAM3_HUMAN	intercellular adhesion molecule 3	480					extracellular matrix organization (GO:0030198)|regulation of immune response (GO:0050776)|single organismal cell-cell adhesion (GO:0016337)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	13			OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)			AGCTCACCCTCAATGTCCATC	0.572																																						ENST00000589261.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	13						c.(1207-1209)Gag>Cag		intercellular adhesion molecule 3							73.0	67.0	69.0					19																	10444839		2203	4300	6503	SO:0001583	missense	3385				cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding	g.chr19:10444839C>G		CCDS12235.1	19p13.3-p13.2	2013-01-11				ENSG00000076662		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5346	protein-coding gene	gene with protein product		146631				1448174	Standard	NM_002162		Approved	CDW50, ICAM-R, CD50	uc002mob.2	P32942		ENST00000160262.5:c.1438G>C	19.37:g.10444839C>G	ENSP00000160262:p.Glu480Gln					ICAM3_ENST00000160262.5_Missense_Mutation_p.E480Q	p.E403Q			P32942	ICAM3_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)		6	1739	-			480					Q6PD68	Missense_Mutation	SNP	ENST00000160262.5	37	c.1207G>C	CCDS12235.1	.	.	.	.	.	.	.	.	.	.	C	8.352	0.831059	0.16820	.	.	ENSG00000076662	ENST00000160262	T	0.15139	2.45	3.92	2.88	0.33553	.	1.011620	0.07954	N	0.981324	T	0.08626	0.0214	N	0.04203	-0.255	0.09310	N	1	B	0.14012	0.009	B	0.19148	0.024	T	0.33803	-0.9854	10	0.20046	T	0.44	.	9.4998	0.39011	0.0:0.2309:0.7691:0.0	.	480	P32942	ICAM3_HUMAN	Q	480	ENSP00000160262:E480Q	ENSP00000160262:E480Q	E	-	1	0	ICAM3	10305839	0.002000	0.14202	0.021000	0.16686	0.007000	0.05969	0.523000	0.22925	1.231000	0.43661	-0.311000	0.09066	GAG		0.572	ICAM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451234.1			3	40	0	0	0	1	0	3	40				
ARNT	405	broad.mit.edu	37	1	150785759	150785759	+	Silent	SNP	C	C	T			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr1:150785759C>T	ENST00000358595.5	-	21	2369	c.2169G>A	c.(2167-2169)gtG>gtA	p.V723V	RNU6-1309P_ENST00000363305.1_RNA|ARNT_ENST00000354396.2_Silent_p.V721V|ARNT_ENST00000505755.1_Silent_p.V708V|ARNT_ENST00000515192.1_Silent_p.V709V	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	723	Gln-rich.				cell differentiation (GO:0030154)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor activity (GO:0004874)|aryl hydrocarbon receptor binding (GO:0017162)|enhancer binding (GO:0035326)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			GCCAGACACCCACACCCTCTG	0.522			T	ETV6	AML						OREG0013788	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000358595.5				Dom	yes		1	1q21	405	T	aryl hydrocarbon receptor nuclear translocator			L	ETV6		AML		0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34						c.(2167-2169)gtG>gtA		aryl hydrocarbon receptor nuclear translocator							96.0	94.0	95.0					1																	150785759		2203	4300	6503	SO:0001819	synonymous_variant	405				positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity	g.chr1:150785759C>T	AF001307	CCDS970.1, CCDS971.1, CCDS65641.1, CCDS65642.1	1q21	2013-05-21			ENSG00000143437	ENSG00000143437		"""Basic helix-loop-helix proteins"""	700	protein-coding gene	gene with protein product		126110					Standard	NM_001668		Approved	HIF-1beta, bHLHe2	uc001evr.2	P27540	OTTHUMG00000035011	ENST00000358595.5:c.2169G>A	1.37:g.150785759C>T			OREG0013788	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1735	ARNT_ENST00000515192.1_Silent_p.V709V|ARNT_ENST00000505755.1_Silent_p.V708V|ARNT_ENST00000354396.2_Silent_p.V721V	p.V723V	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)		21	2369	-	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		723			Gln-rich.		B2R9H1|C4AMA1|F8WAP6|Q59ED4|Q5QP39|Q8NDC7	Silent	SNP	ENST00000358595.5	37	c.2169G>A	CCDS970.1																																																																																				0.522	ARNT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084741.2			18	93	0	0	0	1	0	18	93				
KLHL4	56062	broad.mit.edu	37	X	86919900	86919900	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chrX:86919900G>C	ENST00000373119.4	+	10	2207	c.2062G>C	c.(2062-2064)Gag>Cag	p.E688Q	KLHL4_ENST00000373114.4_Missense_Mutation_p.E688Q	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	688						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						GAACACAGTTGAGTCATATGA	0.353																																						ENST00000373119.4																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						c.(2062-2064)Gag>Cag		kelch-like family member 4							149.0	104.0	119.0					X																	86919900		2203	4300	6503	SO:0001583	missense	56062					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	g.chrX:86919900G>C	AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"""Kelch-like"", ""BTB/POZ domain containing"""	6355	protein-coding gene	gene with protein product		300348	"""kelch (Drosophila)-like 4"", ""kelch-like 4 (Drosophila)"""			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.2062G>C	X.37:g.86919900G>C	ENSP00000362211:p.Glu688Gln					KLHL4_ENST00000373114.4_Missense_Mutation_p.E688Q	p.E688Q	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN			10	2207	+			688					B2RTW2|Q9Y3J5	Missense_Mutation	SNP	ENST00000373119.4	37	c.2062G>C	CCDS14457.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.199453	0.79015	.	.	ENSG00000102271	ENST00000373119;ENST00000373114	D;D	0.84370	-1.84;-1.84	4.06	4.06	0.47325	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.93197	0.7833	M	0.90369	3.11	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94590	0.7787	10	0.87932	D	0	.	14.2896	0.66268	0.0:0.0:1.0:0.0	.	688;688	Q9C0H6;Q9C0H6-2	KLHL4_HUMAN;.	Q	688	ENSP00000362211:E688Q;ENSP00000362206:E688Q	ENSP00000362206:E688Q	E	+	1	0	KLHL4	86806556	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	8.351000	0.90072	2.000000	0.58554	0.415000	0.27848	GAG		0.353	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057413.1			21	10	0	0	0	1	0	21	10				
PPP2R5A	5525	broad.mit.edu	37	1	212530321	212530321	+	Silent	SNP	C	C	T			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr1:212530321C>T	ENST00000261461.2	+	10	1582	c.1008C>T	c.(1006-1008)atC>atT	p.I336I	RP11-384C4.2_ENST00000447949.1_RNA|PPP2R5A_ENST00000537030.3_Silent_p.I279I	NM_006243.3	NP_006234.1	Q15172	2A5A_HUMAN	protein phosphatase 2, regulatory subunit B', alpha	336					negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of lipid kinase activity (GO:0090219)|positive regulation of protein dephosphorylation (GO:0035307)|signal transduction (GO:0007165)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|M band (GO:0031430)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)|Z disc (GO:0030018)	kinase binding (GO:0019900)|protein phosphatase type 2A regulator activity (GO:0008601)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	16				OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155)		TTGAAGAAATCTTAGATGTCA	0.289																																						ENST00000261461.2																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	16						c.(1006-1008)atC>atT		protein phosphatase 2, regulatory subunit B', alpha							63.0	63.0	63.0					1																	212530321		2203	4297	6500	SO:0001819	synonymous_variant	5525				negative regulation of establishment of protein localization in plasma membrane|negative regulation of lipid kinase activity|positive regulation of protein dephosphorylation|signal transduction	chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex	kinase binding|protein phosphatase type 2A regulator activity	g.chr1:212530321C>T	BC022474	CCDS1503.1, CCDS55686.1	1q32.2-q32.3	2010-06-18	2010-04-14		ENSG00000066027	ENSG00000066027		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9309	protein-coding gene	gene with protein product		601643	"""protein phosphatase 2, regulatory subunit B (B56), alpha isoform"", ""protein phosphatase 2, regulatory subunit B', alpha isoform"""			7592815	Standard	NM_006243		Approved	PR61A, B56A	uc001hjb.3	Q15172	OTTHUMG00000036750	ENST00000261461.2:c.1008C>T	1.37:g.212530321C>T						PPP2R5A_ENST00000537030.3_Silent_p.I279I	p.I336I	NM_006243.3	NP_006234.1	Q15172	2A5A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155)	10	1582	+			336					B2R6D2|B7Z7L2|D3DT99|Q2NL72|Q5VVB2|Q8TBI9	Silent	SNP	ENST00000261461.2	37	c.1008C>T	CCDS1503.1																																																																																				0.289	PPP2R5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089302.1	NM_006243		5	18	0	0	0	1	0	5	18				
NFE2L3	9603	broad.mit.edu	37	7	26224794	26224794	+	Silent	SNP	A	A	G			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr7:26224794A>G	ENST00000056233.3	+	4	1735	c.1476A>G	c.(1474-1476)caA>caG	p.Q492Q		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	492					transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						TTACATTTCAACACGTATTTC	0.433																																						ENST00000056233.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						c.(1474-1476)caA>caG		nuclear factor, erythroid 2-like 3							174.0	164.0	167.0					7																	26224794		2203	4300	6503	SO:0001819	synonymous_variant	9603				transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr7:26224794A>G	AB010812	CCDS5396.1	7p15.2	2013-08-23	2013-08-23		ENSG00000050344	ENSG00000050344		"""basic leucine zipper proteins"""	7783	protein-coding gene	gene with protein product		604135	"""nuclear factor (erythroid-derived 2)-like 3"""			10037736	Standard	NM_004289		Approved	Nrf3	uc003sxq.3	Q9Y4A8	OTTHUMG00000023882	ENST00000056233.3:c.1476A>G	7.37:g.26224794A>G							p.Q492Q	NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN			4	1735	+			492					Q6NUS0|Q7Z498|Q86UJ4|Q86VR5|Q9UQA4	Silent	SNP	ENST00000056233.3	37	c.1476A>G	CCDS5396.1																																																																																				0.433	NFE2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214088.1			38	61	0	0	0	1	0	38	61				
DYNC1I1	1780	broad.mit.edu	37	7	95705417	95705417	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr7:95705417G>A	ENST00000324972.6	+	15	1802	c.1609G>A	c.(1609-1611)Gat>Aat	p.D537N	DYNC1I1_ENST00000457059.1_Missense_Mutation_p.D520N|DYNC1I1_ENST00000359388.4_Missense_Mutation_p.D500N|DYNC1I1_ENST00000537881.1_Missense_Mutation_p.D500N|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.D517N|DYNC1I1_ENST00000447467.2_Missense_Mutation_p.D520N	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	537					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|metabolic process (GO:0008152)|vesicle transport along microtubule (GO:0047496)	cytoplasmic dynein complex (GO:0005868)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)|spectrin binding (GO:0030507)			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			CTATGTGTACGATGTCATGTG	0.572											OREG0018174	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000324972.6																			0				NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54						c.(1609-1611)Gat>Aat		dynein, cytoplasmic 1, intermediate chain 1							158.0	134.0	142.0					7																	95705417		2203	4300	6503	SO:0001583	missense	1780				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity	g.chr7:95705417G>A	AF063228	CCDS5644.1, CCDS47645.1, CCDS47646.1, CCDS64718.1	7q21.3-q22.1	2013-01-18	2005-11-24	2005-11-24	ENSG00000158560	ENSG00000158560		"""Cytoplasmic dyneins"", ""WD repeat domain containing"""	2963	protein-coding gene	gene with protein product		603772	"""dynein, cytoplasmic, intermediate polypeptide 1"""	DNCI1		10049579, 16260502	Standard	NM_004411		Approved	DNCIC1	uc003uoc.4	O14576	OTTHUMG00000153983	ENST00000324972.6:c.1609G>A	7.37:g.95705417G>A	ENSP00000320130:p.Asp537Asn		OREG0018174	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1315	DYNC1I1_ENST00000537881.1_Missense_Mutation_p.D500N|DYNC1I1_ENST00000359388.4_Missense_Mutation_p.D500N|DYNC1I1_ENST00000457059.1_Missense_Mutation_p.D520N|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.D517N|DYNC1I1_ENST00000447467.2_Missense_Mutation_p.D520N	p.D537N	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0957)		15	1802	+	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		537					B4DME3|F5H050|G5E9K1|Q8TBF7|Q9Y2X1	Missense_Mutation	SNP	ENST00000324972.6	37	c.1609G>A	CCDS5644.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.830989	0.91036	.	.	ENSG00000158560	ENST00000447467;ENST00000324972;ENST00000537881;ENST00000437599;ENST00000359388;ENST00000457059	T;T;T;T;T;T	0.06768	3.26;3.26;3.26;3.26;3.26;3.26	4.38	3.49	0.39957	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.045414	0.85682	N	0.000000	T	0.33177	0.0854	M	0.91663	3.23	0.80722	D	1	D;D;D;D;D	0.76494	0.998;0.999;0.999;0.998;0.999	P;D;D;P;D	0.69142	0.889;0.923;0.948;0.84;0.962	T	0.37384	-0.9708	10	0.72032	D	0.01	-25.1512	11.8838	0.52589	0.0857:0.0:0.9143:0.0	.	520;517;520;537;500	Q7Z6M0;G5E9K1;O14576-2;O14576;O14576-3	.;.;.;DC1I1_HUMAN;.	N	520;537;500;517;500;520	ENSP00000392337:D520N;ENSP00000320130:D537N;ENSP00000438377:D500N;ENSP00000398118:D517N;ENSP00000352348:D500N;ENSP00000412444:D520N	ENSP00000320130:D537N	D	+	1	0	DYNC1I1	95543353	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.513000	0.98010	1.211000	0.43351	0.313000	0.20887	GAT		0.572	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333432.1	NM_004411		13	214	0	0	0	1	0	13	214				
PPIL4	85313	broad.mit.edu	37	6	149862095	149862095	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr6:149862095C>T	ENST00000253329.2	-	4	336	c.304G>A	c.(304-306)Gat>Aat	p.D102N		NM_139126.3	NP_624311.1	Q8WUA2	PPIL4_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 4	102	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				protein folding (GO:0006457)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	13		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)		CCATGTTGATCACTGCCATTA	0.393																																						ENST00000253329.2																			0				endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	13						c.(304-306)Gat>Aat		peptidylprolyl isomerase (cyclophilin)-like 4							186.0	170.0	176.0					6																	149862095		2203	4300	6503	SO:0001583	missense	85313				protein folding	nucleus	nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|RNA binding	g.chr6:149862095C>T		CCDS34550.1	6q25.1	2013-02-12			ENSG00000131013	ENSG00000131013		"""RNA binding motif (RRM) containing"""	15702	protein-coding gene	gene with protein product		607609					Standard	NM_139126		Approved		uc003qmo.2	Q8WUA2	OTTHUMG00000015788	ENST00000253329.2:c.304G>A	6.37:g.149862095C>T	ENSP00000253329:p.Asp102Asn						p.D102N	NM_139126.3	NP_624311.1	Q8WUA2	PPIL4_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)	4	336	-		Ovarian(120;0.0164)	102			PPIase cyclophilin-type.		B2RD34|Q7Z3Q5	Missense_Mutation	SNP	ENST00000253329.2	37	c.304G>A	CCDS34550.1	.	.	.	.	.	.	.	.	.	.	C	9.091	1.001799	0.19121	.	.	ENSG00000131013	ENST00000253329	T	0.38887	1.11	4.96	4.96	0.65561	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (4);Cyclophilin-like (1);	0.088910	0.85682	D	0.000000	T	0.06872	0.0175	N	0.01257	-0.925	0.80722	D	1	B;B	0.16166	0.0;0.016	B;B	0.17722	0.002;0.019	T	0.33059	-0.9883	10	0.02654	T	1	.	18.5656	0.91115	0.0:1.0:0.0:0.0	.	102;102	B3KRR4;Q8WUA2	.;PPIL4_HUMAN	N	102	ENSP00000253329:D102N	ENSP00000253329:D102N	D	-	1	0	PPIL4	149903788	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.688000	0.68227	2.438000	0.82558	0.655000	0.94253	GAT		0.393	PPIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042642.1			25	42	0	0	0	1	0	25	42				
CTSG	1511	broad.mit.edu	37	14	25043673	25043673	+	Silent	SNP	C	C	T			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr14:25043673C>T	ENST00000216336.2	-	4	408	c.372G>A	c.(370-372)gtG>gtA	p.V124V		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	124	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|defense response to fungus (GO:0050832)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|negative regulation of growth of symbiont in host (GO:0044130)|neutrophil mediated killing of gram-positive bacterium (GO:0070946)|positive regulation of immune response (GO:0050778)|proteolysis (GO:0006508)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	heparin binding (GO:0008201)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		CCACTGGGTTCACGTTTCGAT	0.637																																						ENST00000216336.2																			0				autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25						c.(370-372)gtG>gtA		cathepsin G							109.0	110.0	109.0					14																	25043673		2203	4300	6503	SO:0001819	synonymous_variant	1511				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity	g.chr14:25043673C>T	M16117	CCDS9631.1	14q12	2013-02-25			ENSG00000100448	ENSG00000100448		"""Cathepsins"", ""Endogenous ligands"""	2532	protein-coding gene	gene with protein product		116830				2569462	Standard	NM_001911		Approved	CG	uc001wpq.3	P08311	OTTHUMG00000140182	ENST00000216336.2:c.372G>A	14.37:g.25043673C>T							p.V124V	NM_001911.2	NP_001902.1	P08311	CATG_HUMAN		GBM - Glioblastoma multiforme(265;0.0269)	4	408	-			124			Peptidase S1.		Q6IBJ6|Q9UCA5|Q9UCU6	Silent	SNP	ENST00000216336.2	37	c.372G>A	CCDS9631.1																																																																																				0.637	CTSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276536.2	NM_001911		27	97	0	0	0	1	0	27	97				
PLIN4	729359	broad.mit.edu	37	19	4499511	4499511	+	IGR	SNP	G	G	A			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr19:4499511G>A	ENST00000301286.3	-	0	6341				HDGFRP2_ENST00000586684.1_Silent_p.K533K|HDGFRP2_ENST00000301284.4_Silent_p.K533K	NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4							cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						AAGCGAACAAGGACGTAATGG	0.607																																						ENST00000301284.4																			0											c.(1597-1599)aaG>aaA									33.0	39.0	37.0					19																	4499511		1982	4136	6118	SO:0001628	intergenic_variant	84717				transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:4499511G>A	AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"""Perilipins"""	29393	protein-coding gene	gene with protein product		613247	"""KIAA1881"""	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571		19.37:g.4499511G>A						HDGFRP2_ENST00000586684.1_Silent_p.K533K	p.K533K	NM_001001520.1|NM_032631.2	NP_001001520.1|NP_116020.1	Q7Z4V5	HDGR2_HUMAN			14	1663	+			533					A6NEI2	Silent	SNP	ENST00000301286.3	37	c.1599G>A	CCDS45927.1																																																																																				0.607	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901		6	15	0	0	0	1	0	6	15				
LMOD1	25802	broad.mit.edu	37	1	201869122	201869122	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr1:201869122G>C	ENST00000367288.4	-	2	1265	c.1019C>G	c.(1018-1020)tCa>tGa	p.S340*	RP11-307B6.3_ENST00000414927.1_RNA|RP11-307B6.3_ENST00000458139.1_RNA	NM_012134.2	NP_036266.2	P29536	LMOD1_HUMAN	leiomodin 1 (smooth muscle)	340					muscle contraction (GO:0006936)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GATGCAGTCTGAGTTGTTGAC	0.527																																						ENST00000367288.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1018-1020)tCa>tGa		leiomodin 1 (smooth muscle)							108.0	107.0	107.0					1																	201869122		2088	4229	6317	SO:0001587	stop_gained	25802				muscle contraction	cytoskeleton|cytosol|membrane fraction	tropomyosin binding	g.chr1:201869122G>C	X54162	CCDS53457.1	1q32.1	2008-05-22			ENSG00000163431	ENSG00000163431			6647	protein-coding gene	gene with protein product		602715					Standard	NM_012134		Approved	64kD, D1, 1D	uc021phl.1	P29536	OTTHUMG00000035802	ENST00000367288.4:c.1019C>G	1.37:g.201869122G>C	ENSP00000356257:p.Ser340*						p.S340*	NM_012134.2	NP_036266.2	P29536	LMOD1_HUMAN			2	1265	-			340					B1APV6|C4AMB1|Q68EN2	Nonsense_Mutation	SNP	ENST00000367288.4	37	c.1019C>G	CCDS53457.1	.	.	.	.	.	.	.	.	.	.	G	35	5.551147	0.96501	.	.	ENSG00000163431	ENST00000367288;ENST00000400965;ENST00000412469	.	.	.	5.18	5.18	0.71444	.	0.249566	0.21032	N	0.081336	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	-6.4118	16.1762	0.81855	0.0:0.0:1.0:0.0	.	.	.	.	X	340;340;289	.	ENSP00000356257:S340X	S	-	2	0	LMOD1	200135745	1.000000	0.71417	0.990000	0.47175	0.855000	0.48748	7.949000	0.87791	2.415000	0.81967	0.603000	0.83216	TCA		0.527	LMOD1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087085.2			9	25	0	0	0	1	0	9	25				
GBA3	57733	broad.mit.edu	37	4	22694613	22694613	+	RNA	SNP	G	G	A			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr4:22694613G>A	ENST00000503442.1	+	0	66				GBA3_ENST00000508166.1_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						carbohydrate metabolic process (GO:0005975)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	beta-galactosidase activity (GO:0004565)|beta-glucosidase activity (GO:0008422)|glycosylceramidase activity (GO:0017042)			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GGCAGCTGAAGATCCCAGTAG	0.507																																						ENST00000508166.1																			0				breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33								glucosidase, beta, acid 3 (gene/pseudogene)							36.0	38.0	37.0					4																	22694613		1917	4142	6059			57733				glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity	g.chr4:22694613G>A	AB017913		4p15.2	2013-05-09	2013-05-09		ENSG00000249948	ENSG00000249948	3.2.1.21		19069	protein-coding gene	gene with protein product	"""klotho-related protein"""	606619	"""glucosidase, beta, acid 3 (cytosolic)"""			11389701	Standard	NM_020973		Approved	GLUC, KLrP	uc031sdv.1	Q9H227	OTTHUMG00000160448		4.37:g.22694613G>A						GBA3_ENST00000503442.1_RNA		NM_020973.4	NP_066024.1	Q9H227	GBA3_HUMAN			0	77	+								Q32LY7|Q3MIH4|Q53GG8|Q6NSF4|Q8NHT8|Q9H3T4|Q9H4C6	RNA	SNP	ENST00000503442.1	37																																																																																						0.507	GBA3-003	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000360620.2			4	15	0	0	0	1	0	4	15				
ZNHIT2	741	broad.mit.edu	37	11	64884705	64884705	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr11:64884705C>G	ENST00000310597.4	-	1	465	c.421G>C	c.(421-423)Gag>Cag	p.E141Q	AP003068.12_ENST00000527789.1_RNA	NM_014205.2	NP_055020.1	Q9UHR6	ZNHI2_HUMAN	zinc finger, HIT-type containing 2	141							metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						TCCAGCTCCTCCAGAAGCTGC	0.716																																						ENST00000310597.4																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						c.(421-423)Gag>Cag		zinc finger, HIT-type containing 2							9.0	13.0	11.0					11																	64884705		2024	4027	6051	SO:0001583	missense	741						metal ion binding	g.chr11:64884705C>G		CCDS8094.1	11q13	2012-08-08	2010-09-15	2004-07-14	ENSG00000174276	ENSG00000174276		"""Zinc fingers, HIT-type"""	1177	protein-coding gene	gene with protein product		604575	"""chromosome 11 open reading frame 5"", ""zinc finger, HIT domain containing 2"""	C11orf5			Standard	NM_014205		Approved	FON	uc001ocw.3	Q9UHR6	OTTHUMG00000165604	ENST00000310597.4:c.421G>C	11.37:g.64884705C>G	ENSP00000308548:p.Glu141Gln					AP003068.12_ENST00000527789.1_RNA	p.E141Q	NM_014205.2	NP_055020.1	Q9UHR6	ZNHI2_HUMAN			1	465	-			141					Q3SY14|Q8IUV0	Missense_Mutation	SNP	ENST00000310597.4	37	c.421G>C	CCDS8094.1	.	.	.	.	.	.	.	.	.	.	C	10.92	1.488045	0.26686	.	.	ENSG00000174276	ENST00000310597	T	0.33216	1.42	4.55	3.64	0.41730	.	0.222859	0.36002	U	0.002845	T	0.22589	0.0545	L	0.43152	1.355	0.33573	D	0.598902	P	0.37423	0.594	B	0.34722	0.188	T	0.35325	-0.9793	10	0.56958	D	0.05	-14.3028	6.327	0.21248	0.0:0.7138:0.1863:0.0999	.	141	Q9UHR6	ZNHI2_HUMAN	Q	141	ENSP00000308548:E141Q	ENSP00000308548:E141Q	E	-	1	0	ZNHIT2	64641281	0.220000	0.23631	1.000000	0.80357	0.133000	0.20885	0.912000	0.28597	1.148000	0.42385	0.561000	0.74099	GAG		0.716	ZNHIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385260.1	NM_014205		4	21	0	0	0	1	0	4	21				
RIN3	79890	broad.mit.edu	37	14	93119130	93119130	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr14:93119130G>T	ENST00000216487.7	+	6	1895	c.1736G>T	c.(1735-1737)cGg>cTg	p.R579L	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	579					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)	GTPase activator activity (GO:0005096)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				GGCAAGGCTCGGCACCGGCTG	0.597																																						ENST00000216487.7																			0				endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36						c.(1735-1737)cGg>cTg		Ras and Rab interactor 3							85.0	75.0	79.0					14																	93119130		2203	4300	6503	SO:0001583	missense	79890				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding	g.chr14:93119130G>T	BC025248	CCDS32144.1	14q32.13	2008-08-29				ENSG00000100599			18751	protein-coding gene	gene with protein product		610223				11733506	Standard	NM_024832		Approved	FLJ22439	uc001yap.3	Q8TB24		ENST00000216487.7:c.1736G>T	14.37:g.93119130G>T	ENSP00000216487:p.Arg579Leu					RIN3_ENST00000418924.2_3'UTR	p.R579L	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN			6	1895	+		all_cancers(154;0.0701)	579					Q76LB3|Q8NF30|Q8TEE8|Q8WYP4|Q9H6A5|Q9HAG1	Missense_Mutation	SNP	ENST00000216487.7	37	c.1736G>T	CCDS32144.1	.	.	.	.	.	.	.	.	.	.	G	14.31	2.497738	0.44455	.	.	ENSG00000100599	ENST00000216487;ENST00000428147	T	0.06687	3.27	4.58	3.55	0.40652	.	0.222731	0.35838	N	0.002945	T	0.18759	0.0450	L	0.57536	1.79	0.23266	N	0.998013	D;B;B;D	0.76494	0.999;0.09;0.09;0.997	D;B;B;P	0.72075	0.976;0.027;0.026;0.904	T	0.02625	-1.1132	10	0.51188	T	0.08	-28.3847	5.429	0.16442	0.3262:0.0:0.6738:0.0	.	579;625;504;579	Q8TB24-4;Q86U22;Q6ZRC2;Q8TB24	.;.;.;RIN3_HUMAN	L	579;503	ENSP00000216487:R579L	ENSP00000216487:R579L	R	+	2	0	RIN3	92188883	0.979000	0.34478	0.862000	0.33874	0.699000	0.40488	2.011000	0.40922	2.117000	0.64856	0.561000	0.74099	CGG		0.597	RIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412269.1			15	107	1	0	6.49762e-13	1	6.99744e-13	15	107				
SLC2A5	6518	broad.mit.edu	37	1	9097783	9097783	+	Silent	SNP	G	G	T			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr1:9097783G>T	ENST00000377424.4	-	12	1547	c.1368C>A	c.(1366-1368)atC>atA	p.I456I	SLC2A5_ENST00000535586.1_Silent_p.I341I|SLC2A5_ENST00000536305.1_Silent_p.I397I	NM_003039.2	NP_003030.1	P22732	GTR5_HUMAN	solute carrier family 2 (facilitated glucose/fructose transporter), member 5	456					carbohydrate metabolic process (GO:0005975)|cellular response to fructose stimulus (GO:0071332)|fructose transport (GO:0015755)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fructose transmembrane transporter activity (GO:0005353)|glucose transmembrane transporter activity (GO:0005355)			endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CAATCAAGAAGATGTAGATGG	0.542																																						ENST00000377424.4																			0				endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36						c.(1366-1368)atC>atA		solute carrier family 2 (facilitated glucose/fructose transporter), member 5							112.0	116.0	115.0					1																	9097783		2203	4300	6503	SO:0001819	synonymous_variant	6518				carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity	g.chr1:9097783G>T	BC001820	CCDS99.1, CCDS44054.1	1p36.2	2013-05-22			ENSG00000142583	ENSG00000142583		"""Solute carriers"""	11010	protein-coding gene	gene with protein product		138230		GLUT5		9691177	Standard	NM_003039		Approved		uc001apo.3	P22732	OTTHUMG00000001771	ENST00000377424.4:c.1368C>A	1.37:g.9097783G>T						SLC2A5_ENST00000535586.1_Silent_p.I341I|SLC2A5_ENST00000536305.1_Silent_p.I397I	p.I456I	NM_003039.2	NP_003030.1	P22732	GTR5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)	12	1547	-	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	456					Q14770|Q5T977|Q8IVB3	Silent	SNP	ENST00000377424.4	37	c.1368C>A	CCDS99.1																																																																																				0.542	SLC2A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004932.1	NM_003039		33	79	1	0	3.03874e-20	1	3.33163e-20	33	79				
ZNF326	284695	broad.mit.edu	37	1	90484319	90484319	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr1:90484319A>G	ENST00000340281.4	+	9	1293	c.1150A>G	c.(1150-1152)Ata>Gta	p.I384V	ZNF326_ENST00000370447.3_Missense_Mutation_p.I295V|ZNF326_ENST00000455342.2_Missense_Mutation_p.I178V	NM_182976.2	NP_892021.1	Q5BKZ1	ZN326_HUMAN	zinc finger protein 326	384					mRNA processing (GO:0006397)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of DNA-templated transcription, elongation (GO:0032784)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	DBIRD complex (GO:0044609)|nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		AGTAGTTAAAATAATTGAAAA	0.229																																						ENST00000340281.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25						c.(1150-1152)Ata>Gta		zinc finger protein 326							51.0	56.0	55.0					1																	90484319		2185	4281	6466	SO:0001583	missense	284695				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	DNA binding	g.chr1:90484319A>G	BC013102	CCDS727.1, CCDS728.1	1p22	2012-04-19			ENSG00000162664	ENSG00000162664		"""Zinc fingers, C2H2-type"""	14104	protein-coding gene	gene with protein product	"""ZNF-protein interacting with nuclear mRNPs and DBC1"""	614601				22446626	Standard	NM_182976		Approved	Zfp326, ZAN75, FLJ20403, ZIRD	uc001dnq.2	Q5BKZ1	OTTHUMG00000010675	ENST00000340281.4:c.1150A>G	1.37:g.90484319A>G	ENSP00000340796:p.Ile384Val					ZNF326_ENST00000455342.2_Missense_Mutation_p.I178V|ZNF326_ENST00000370447.2_Missense_Mutation_p.I295V	p.I384V	NM_182976.2	NP_892021.1	Q5BKZ1	ZN326_HUMAN		all cancers(265;0.00728)|Epithelial(280;0.0265)	9	1293	+		all_lung(203;0.0116)|Lung NSC(277;0.0417)	384					A8MYX1|B4DLN0|B4E179|Q5VW93|Q5VW94|Q5VW96|Q5VW97|Q6NSA2|Q7Z638|Q7Z6C2	Missense_Mutation	SNP	ENST00000340281.4	37	c.1150A>G	CCDS727.1	.	.	.	.	.	.	.	.	.	.	A	0.759	-0.770027	0.02974	.	.	ENSG00000162664	ENST00000394590;ENST00000340281;ENST00000370447;ENST00000455342	T;T;T	0.41400	1.0;1.0;1.0	5.56	-2.13	0.07144	.	0.753462	0.13368	N	0.393149	T	0.09818	0.0241	L	0.36672	1.1	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.39292	-0.9621	10	0.14252	T	0.57	-1.7337	7.7625	0.28961	0.422:0.124:0.454:0.0	.	384;384	A8MYX1;Q5BKZ1	.;ZN326_HUMAN	V	384;384;295;178	ENSP00000340796:I384V;ENSP00000359476:I295V;ENSP00000403470:I178V	ENSP00000340796:I384V	I	+	1	0	ZNF326	90256907	0.988000	0.35896	0.901000	0.35422	0.979000	0.70002	0.253000	0.18296	-0.145000	0.11294	-0.263000	0.10527	ATA		0.229	ZNF326-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029428.2	NM_181781		13	26	0	0	0	1	0	13	26				
OLFML2B	25903	broad.mit.edu	37	1	161953740	161953740	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr1:161953740T>C	ENST00000294794.3	-	8	2401	c.1978A>G	c.(1978-1980)Aag>Gag	p.K660E	OLFML2B_ENST00000367938.1_Missense_Mutation_p.K143E|OLFML2B_ENST00000367940.2_Missense_Mutation_p.K661E	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	660	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GTGGTCTCCTTCTGTGTGCTC	0.587																																						ENST00000294794.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(1978-1980)Aag>Gag		olfactomedin-like 2B							116.0	104.0	108.0					1																	161953740		2203	4300	6503	SO:0001583	missense	25903							g.chr1:161953740T>C	BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.1978A>G	1.37:g.161953740T>C	ENSP00000294794:p.Lys660Glu					OLFML2B_ENST00000367940.2_Missense_Mutation_p.K661E|OLFML2B_ENST00000367938.1_Missense_Mutation_p.K143E	p.K660E	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0172)		8	2401	-	all_hematologic(112;0.156)		660			Olfactomedin-like.		B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Missense_Mutation	SNP	ENST00000294794.3	37	c.1978A>G	CCDS1236.1	.	.	.	.	.	.	.	.	.	.	T	17.59	3.427853	0.62733	.	.	ENSG00000162745	ENST00000294794;ENST00000367940;ENST00000367938	D;D;D	0.90069	-2.61;-2.61;-2.61	5.36	5.36	0.76844	Olfactomedin-like (3);	.	.	.	.	D	0.91195	0.7226	M	0.67953	2.075	0.37324	D	0.909694	D;B	0.64830	0.994;0.213	D;B	0.65140	0.932;0.349	D	0.92294	0.5844	8	0.56958	D	0.05	.	13.2942	0.60288	0.0:0.0:0.0:1.0	.	661;660	F2Z3N3;Q68BL8	.;OLM2B_HUMAN	E	660;661;143	ENSP00000294794:K660E;ENSP00000356917:K661E;ENSP00000356915:K143E	ENSP00000294794:K660E	K	-	1	0	OLFML2B	160220364	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	3.173000	0.50839	2.015000	0.59207	0.459000	0.35465	AAG		0.587	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060552.2	NM_015441		14	61	0	0	0	1	0	14	61				
SGMS1-AS1	104355295	broad.mit.edu	37	10	52389598	52389598	+	RNA	SNP	C	C	T			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr10:52389598C>T	ENST00000443374.2	+	0	787				RP11-50E11.3_ENST00000609579.1_RNA																							GAATGTGAGTCTGAGTCTTTG	0.463																																						ENST00000443374.1																			0																																																			104355295							g.chr10:52389598C>T																													10.37:g.52389598C>T														0	291	+									RNA	SNP	ENST00000443374.2	37																																																																																						0.463	RP11-50E11.3-001	KNOWN	basic	antisense	antisense	OTTHUMT00000048071.2			12	16	0	0	0	1	0	12	16				
ABCA1	19	broad.mit.edu	37	9	107599734	107599734	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr9:107599734G>A	ENST00000374736.3	-	10	1563	c.1169C>T	c.(1168-1170)cCa>cTa	p.P390L		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	390					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	CCTTGTGGCTGGAGTGTCAGG	0.527																																						ENST00000374736.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115						c.(1168-1170)cCa>cTa		ATP-binding cassette, sub-family A (ABC1), member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						62.0	62.0	62.0					9																	107599734		2203	4300	6503	SO:0001583	missense	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107599734G>A	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.1169C>T	9.37:g.107599734G>A	ENSP00000363868:p.Pro390Leu						p.P390L	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	10	1563	-			390					Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	ENST00000374736.3	37	c.1169C>T	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.125577	0.77436	.	.	ENSG00000165029	ENST00000374736	D	0.85773	-2.03	5.44	5.44	0.79542	.	0.049789	0.85682	D	0.000000	D	0.87708	0.6245	M	0.84219	2.685	0.80722	D	1	P	0.39964	0.697	B	0.38500	0.275	D	0.89659	0.3875	10	0.87932	D	0	.	19.2827	0.94058	0.0:0.0:1.0:0.0	.	390	O95477	ABCA1_HUMAN	L	390	ENSP00000363868:P390L	ENSP00000363868:P390L	P	-	2	0	ABCA1	106639555	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	9.420000	0.97426	2.545000	0.85829	0.655000	0.94253	CCA		0.527	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		21	18	0	0	0	1	0	21	18				
KRT28	162605	broad.mit.edu	37	17	38955842	38955842	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr17:38955842C>T	ENST00000306658.7	-	1	369	c.304G>A	c.(304-306)Gat>Aat	p.D102N		NM_181535.3	NP_853513.2			keratin 28											NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				CGCACATTATCCAGGTAGGAT	0.473																																					Melanoma(19;789 869 15380 26882 39836)	ENST00000306658.7																			0				NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30						c.(304-306)Gat>Aat		keratin 28							114.0	116.0	115.0					17																	38955842		2203	4300	6503	SO:0001583	missense	162605					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38955842C>T	AK129827	CCDS11376.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000173908	ENSG00000173908		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30842	protein-coding gene	gene with protein product			"""keratin 25D"""	KRT25D		16831889	Standard	NM_181535		Approved		uc002hvh.1	Q7Z3Y7	OTTHUMG00000133365	ENST00000306658.7:c.304G>A	17.37:g.38955842C>T	ENSP00000305263:p.Asp102Asn						p.D102N	NM_181535.3	NP_853513.2	Q7Z3Y7	K1C28_HUMAN			1	369	-		Breast(137;0.000301)	102			Coil 1A.|Rod.			Missense_Mutation	SNP	ENST00000306658.7	37	c.304G>A	CCDS11376.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.996827	0.74818	.	.	ENSG00000173908	ENST00000306658	D	0.91945	-2.94	5.34	5.34	0.76211	Filament (1);	0.000000	0.64402	D	0.000010	D	0.93344	0.7878	M	0.72479	2.2	0.49051	D	0.999746	B	0.30563	0.285	B	0.40477	0.33	D	0.92243	0.5802	10	0.51188	T	0.08	.	18.382	0.90454	0.0:1.0:0.0:0.0	.	102	Q7Z3Y7	K1C28_HUMAN	N	102	ENSP00000305263:D102N	ENSP00000305263:D102N	D	-	1	0	KRT28	36209368	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	2.535000	0.45685	2.668000	0.90789	0.650000	0.86243	GAT		0.473	KRT28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257201.2	NM_181535		22	78	0	0	0	1	0	22	78				
ZDHHC19	131540	broad.mit.edu	37	3	195936327	195936327	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr3:195936327G>A	ENST00000296326.3	-	3	407	c.328C>T	c.(328-330)Cgc>Tgc	p.R110C	ZDHHC19_ENST00000488508.1_5'UTR	NM_001039617.1	NP_001034706.1	Q8WVZ1	ZDH19_HUMAN	zinc finger, DHHC-type containing 19	110						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(7)|ovary(3)	14	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0022)		CATTGCAGGCGGAAGGCCCCG	0.652																																						ENST00000296326.3																			0				breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(7)|ovary(3)	14						c.(328-330)Cgc>Tgc		zinc finger, DHHC-type containing 19							44.0	55.0	51.0					3																	195936327		2076	4185	6261	SO:0001583	missense	131540					integral to membrane	acyltransferase activity|zinc ion binding	g.chr3:195936327G>A	BC022078	CCDS43190.1	3q29	2008-05-02			ENSG00000163958	ENSG00000163958		"""Zinc fingers, DHHC-type"""	20713	protein-coding gene	gene with protein product							Standard	XR_246038		Approved	MGC33345	uc003fwc.3	Q8WVZ1	OTTHUMG00000133642	ENST00000296326.3:c.328C>T	3.37:g.195936327G>A	ENSP00000296326:p.Arg110Cys					ZDHHC19_ENST00000488508.1_5'UTR	p.R110C	NM_001039617.1	NP_001034706.1	Q8WVZ1	ZDH19_HUMAN	Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0022)	3	407	-	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		110					A8MSY6|B3KVI1	Missense_Mutation	SNP	ENST00000296326.3	37	c.328C>T	CCDS43190.1	.	.	.	.	.	.	.	.	.	.	G	19.32	3.804262	0.70682	.	.	ENSG00000163958	ENST00000296326	T	0.26067	1.76	5.81	5.81	0.92471	.	0.239175	0.30101	N	0.010405	T	0.35998	0.0951	M	0.85630	2.765	0.58432	D	0.999999	B	0.31351	0.32	B	0.26614	0.071	T	0.31530	-0.9940	10	0.87932	D	0	-26.5577	15.5735	0.76356	0.0:0.0:1.0:0.0	.	110	Q8WVZ1	ZDH19_HUMAN	C	110	ENSP00000296326:R110C	ENSP00000296326:R110C	R	-	1	0	ZDHHC19	197420724	0.993000	0.37304	1.000000	0.80357	0.983000	0.72400	2.181000	0.42547	2.751000	0.94390	0.555000	0.69702	CGC		0.652	ZDHHC19-007	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341533.1	NM_144637		5	21	0	0	0	1	0	5	21				
DTX4	23220	broad.mit.edu	37	11	58940169	58940169	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr11:58940169T>A	ENST00000227451.3	+	1	205	c.101T>A	c.(100-102)gTc>gAc	p.V34D	DTX4_ENST00000532982.1_Intron	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex 4, E3 ubiquitin ligase	34	WWE 1. {ECO:0000255|PROSITE- ProRule:PRU00248}.				innate immune response (GO:0045087)|Notch signaling pathway (GO:0007219)|positive regulation of type I interferon production (GO:0032481)|protein ubiquitination (GO:0016567)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				GAGGCGGTGGTccgcgccggc	0.706																																						ENST00000227451.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(100-102)gTc>gAc		deltex homolog 4 (Drosophila)							9.0	12.0	11.0					11																	58940169		2090	4192	6282	SO:0001583	missense	23220				Notch signaling pathway	cytoplasm	zinc ion binding	g.chr11:58940169T>A	AB023154	CCDS44612.1	11q12.2	2014-01-28	2014-01-28		ENSG00000110042	ENSG00000110042		"""RING-type (C3HC4) zinc fingers"""	29151	protein-coding gene	gene with protein product			"""deltex 4 homolog (Drosophila)"", ""deltex homolog 4 (Drosophila)"""			10231032, 22388039	Standard	NM_015177		Approved	KIAA0937, RNF155	uc001nns.2	Q9Y2E6	OTTHUMG00000167336	ENST00000227451.3:c.101T>A	11.37:g.58940169T>A	ENSP00000227451:p.Val34Asp					DTX4_ENST00000532982.1_Intron	p.V34D	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN			1	205	+		all_epithelial(135;0.125)	34			WWE 1.		Q0VF38	Missense_Mutation	SNP	ENST00000227451.3	37	c.101T>A	CCDS44612.1	.	.	.	.	.	.	.	.	.	.	T	12.31	1.900152	0.33535	.	.	ENSG00000110042	ENST00000227451	T	0.46451	0.87	3.92	2.75	0.32379	WWE domain (2);WWE domain, subgroup (1);	.	.	.	.	T	0.27933	0.0688	N	0.19112	0.55	0.50171	D	0.999858	P	0.36789	0.57	B	0.39152	0.292	T	0.03202	-1.1061	9	0.37606	T	0.19	.	8.7999	0.34903	0.1692:0.0:0.0:0.8308	.	34	Q9Y2E6	DTX4_HUMAN	D	34	ENSP00000227451:V34D	ENSP00000227451:V34D	V	+	2	0	DTX4	58696745	1.000000	0.71417	0.955000	0.39395	0.013000	0.08279	3.713000	0.54882	0.455000	0.26910	-0.336000	0.08194	GTC		0.706	DTX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394228.1	XM_166213		4	14	0	0	0	1	0	4	14				
SCN11A	11280	broad.mit.edu	37	3	38950665	38950665	+	Silent	SNP	G	G	A			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr3:38950665G>A	ENST00000302328.3	-	9	1320	c.1122C>T	c.(1120-1122)ctC>ctT	p.L374L	SCN11A_ENST00000456224.3_Silent_p.L374L|AC116038.1_ENST00000401122.1_RNA|SCN11A_ENST00000444237.2_Silent_p.L374L|SCN11A_ENST00000450244.1_Silent_p.L374L	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	374					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AGACTGAGTAGAGCCCAGTAG	0.458																																						ENST00000302328.3																			0				NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119						c.(1120-1122)ctC>ctT		sodium channel, voltage-gated, type XI, alpha subunit	Cocaine(DB00907)						135.0	131.0	132.0					3																	38950665		2203	4300	6503	SO:0001819	synonymous_variant	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38950665G>A	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.1122C>T	3.37:g.38950665G>A						SCN11A_ENST00000444237.2_Silent_p.L374L|SCN11A_ENST00000450244.1_Silent_p.L374L|SCN11A_ENST00000456224.3_Silent_p.L374L	p.L374L	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	9	1320	-			374					A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Silent	SNP	ENST00000302328.3	37	c.1122C>T	CCDS33737.1																																																																																				0.458	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		4	67	0	0	0	1	0	4	67				
KCNK18	338567	broad.mit.edu	37	10	118969450	118969450	+	Silent	SNP	C	C	T			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr10:118969450C>T	ENST00000334549.1	+	3	795	c.795C>T	c.(793-795)atC>atT	p.I265I		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	265					cellular response to pH (GO:0071467)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium-activated potassium channel activity (GO:0015269)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		CATACTCCATCATCAGCAACC	0.517																																						ENST00000334549.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41						c.(793-795)atC>atT		potassium channel, subfamily K, member 18							175.0	153.0	161.0					10																	118969450		2203	4300	6503	SO:0001819	synonymous_variant	338567					integral to membrane|plasma membrane		g.chr10:118969450C>T	AB087138	CCDS7598.1	10q26.11	2012-03-07			ENSG00000186795	ENSG00000186795		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	19439	protein-coding gene	gene with protein product	"""TWIK related spinal cord K+ channel"""	613655				16382106	Standard	NM_181840		Approved	K2p18.1, TRESK-2, TRESK2, TRESK, TRIK	uc010qsr.2	Q7Z418	OTTHUMG00000019120	ENST00000334549.1:c.795C>T	10.37:g.118969450C>T							p.I265I	NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN		all cancers(201;0.0211)	3	795	+		Colorectal(252;0.19)	265					Q5SQQ8	Silent	SNP	ENST00000334549.1	37	c.795C>T	CCDS7598.1																																																																																				0.517	KCNK18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050562.2	NM_181840		15	55	0	0	0	1	0	15	55				
GPR125	166647	broad.mit.edu	37	4	22390434	22390434	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr4:22390434C>T	ENST00000334304.5	-	19	3129	c.2860G>A	c.(2860-2862)Gag>Aag	p.E954K	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	954					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				TCCGTGGGCTCCTTAAGCTCA	0.428																																						ENST00000334304.5																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56						c.(2860-2862)Gag>Aag		G protein-coupled receptor 125							81.0	83.0	82.0					4																	22390434		2203	4300	6503	SO:0001583	missense	166647				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	g.chr4:22390434C>T	AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"""	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.2860G>A	4.37:g.22390434C>T	ENSP00000334952:p.Glu954Lys					GPR125_ENST00000282943.5_5'UTR	p.E954K	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN			19	3129	-		Breast(46;0.198)	954					Q6UXK9|Q86SQ5|Q8TC55	Missense_Mutation	SNP	ENST00000334304.5	37	c.2860G>A	CCDS33964.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.945159	0.92593	.	.	ENSG00000152990	ENST00000334304	T	0.41400	1.0	5.84	5.84	0.93424	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.59528	0.2200	M	0.61703	1.905	0.80722	D	1	P;D	0.69078	0.544;0.997	B;P	0.57152	0.316;0.814	T	0.58393	-0.7644	10	0.54805	T	0.06	-39.1164	20.13	0.97997	0.0:1.0:0.0:0.0	.	811;954	Q8IWK6-3;Q8IWK6	.;GP125_HUMAN	K	954	ENSP00000334952:E954K	ENSP00000334952:E954K	E	-	1	0	GPR125	21999532	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.484000	0.81180	2.751000	0.94390	0.650000	0.86243	GAG		0.428	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3			10	66	0	0	0	1	0	10	66				
HLA-DRB6	3128	broad.mit.edu	37	6	32522722	32522722	+	RNA	SNP	C	C	A	rs373838979		TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr6:32522722C>A	ENST00000411500.1	-	0	484					NR_001298.1				major histocompatibility complex, class II, DR beta 6 (pseudogene)																		TGGGTCTTTGCAGGATACACA	0.488																																						ENST00000411500.1																			0																																																			3128							g.chr6:32522722C>A	L76566		6p21.3	2011-07-08			ENSG00000229391	ENSG00000229391		"""Histocompatibility complex"""	4954	pseudogene	pseudogene						1529427, 10436177	Standard	NR_001298		Approved		uc003obn.1		OTTHUMG00000031028		6.37:g.32522722C>A								NR_001298.1						0	484	-									RNA	SNP	ENST00000411500.1	37																																																																																						0.488	HLA-DRB6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000272900.1	NR_001298		5	22	1	0	0.00116845	1	0.0011947	5	22				
SNX21	90203	broad.mit.edu	37	20	44463731	44463731	+	Silent	SNP	C	C	T	rs141490712	byFrequency	TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr20:44463731C>T	ENST00000491381.1	+	3	491	c.423C>T	c.(421-423)gtC>gtT	p.V141V	SNX21_ENST00000372542.1_Silent_p.V132V|SNX21_ENST00000462307.1_Silent_p.V141V|SNX21_ENST00000342644.5_Silent_p.V141V|SNX21_ENST00000372541.1_Silent_p.V132V|TNNC2_ENST00000372557.1_5'Flank|SNX21_ENST00000344780.4_3'UTR			Q969T3	SNX21_HUMAN	sorting nexin family member 21	141	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	7		Myeloproliferative disorder(115;0.0122)				CTAACGTTGTCAAGGACCCGC	0.592																																						ENST00000372542.1																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	7						c.(394-396)gtC>gtT		sorting nexin family member 21							50.0	48.0	48.0					20																	44463731		2203	4300	6503	SO:0001819	synonymous_variant	90203				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding	g.chr20:44463731C>T	AK095851	CCDS13376.1, CCDS13377.1, CCDS42883.1	20q13.12	2013-01-10	2006-07-24	2006-07-24	ENSG00000124104	ENSG00000124104		"""Sorting nexins"", ""Tetratricopeptide (TTC) repeat domain containing"""	16154	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 161"""	C20orf161		12461558, 12459172	Standard	NM_152897		Approved	dJ337O18.4, SNX-L	uc002xpv.1	Q969T3	OTTHUMG00000032624	ENST00000491381.1:c.423C>T	20.37:g.44463731C>T						SNX21_ENST00000372541.1_Silent_p.V132V|SNX21_ENST00000462307.1_Silent_p.V141V|SNX21_ENST00000344780.4_3'UTR|SNX21_ENST00000342644.5_Silent_p.V141V|SNX21_ENST00000491381.1_Silent_p.V141V	p.V132V			Q969T3	SNX21_HUMAN			2	708	+		Myeloproliferative disorder(115;0.0122)	141			PX.		Q5JZH5|Q5JZH6|Q5JZH7|Q8WUR6|Q9BR16	Silent	SNP	ENST00000491381.1	37	c.396C>T	CCDS13377.1																																																																																				0.592	SNX21-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079534.1	NM_033421		11	46	0	0	0	1	0	11	46				
PCDH11X	27328	broad.mit.edu	37	X	91133664	91133664	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chrX:91133664G>A	ENST00000373094.1	+	2	3270	c.2425G>A	c.(2425-2427)Gac>Aac	p.D809N	PCDH11X_ENST00000361655.2_Missense_Mutation_p.D809N|PCDH11X_ENST00000395337.2_Missense_Mutation_p.D809N|PCDH11X_ENST00000373097.1_Missense_Mutation_p.D809N|PCDH11X_ENST00000298274.8_Missense_Mutation_p.D809N|PCDH11X_ENST00000361724.1_Missense_Mutation_p.D809N|PCDH11X_ENST00000373088.1_Missense_Mutation_p.D809N|PCDH11X_ENST00000504220.2_Missense_Mutation_p.D809N|PCDH11X_ENST00000406881.1_Missense_Mutation_p.D809N	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	809					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						ACCAACTAGTGACTATGTCAA	0.468																																					NSCLC(38;925 1092 2571 38200 45895)	ENST00000373094.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(2425-2427)Gac>Aac		protocadherin 11 X-linked							72.0	60.0	64.0					X																	91133664		2202	4297	6499	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91133664G>A	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.2425G>A	X.37:g.91133664G>A	ENSP00000362186:p.Asp809Asn					PCDH11X_ENST00000395337.2_Missense_Mutation_p.D809N|PCDH11X_ENST00000373088.1_Missense_Mutation_p.D809N|PCDH11X_ENST00000504220.1_Missense_Mutation_p.D809N|PCDH11X_ENST00000406881.1_Missense_Mutation_p.D809N|PCDH11X_ENST00000361724.1_Missense_Mutation_p.D809N|PCDH11X_ENST00000298274.8_Missense_Mutation_p.D809N|PCDH11X_ENST00000361655.2_Missense_Mutation_p.D809N|PCDH11X_ENST00000373097.1_Missense_Mutation_p.D809N	p.D809N	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN			2	3270	+			809					A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.2425G>A	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	G	12.59	1.983815	0.35036	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48	5.02	5.02	0.67125	Protocadherin (1);	0.055186	0.64402	D	0.000001	T	0.52354	0.1729	L	0.60455	1.87	0.34571	D	0.713397	D;D;D;D;D;D;D;D	0.89917	0.999;0.999;1.0;1.0;1.0;1.0;0.997;0.999	D;D;D;D;D;D;D;D	0.79108	0.967;0.979;0.987;0.987;0.987;0.992;0.944;0.944	T	0.65821	-0.6075	10	0.59425	D	0.04	.	16.3519	0.83215	0.0:0.0:1.0:0.0	.	809;809;809;809;809;809;809;809	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	N	809	ENSP00000378746:D809N;ENSP00000362186:D809N;ENSP00000362189:D809N;ENSP00000355040:D809N;ENSP00000362180:D809N;ENSP00000423762:D809N;ENSP00000355105:D809N;ENSP00000384758:D809N;ENSP00000298274:D809N	ENSP00000298274:D809N	D	+	1	0	PCDH11X	91020320	1.000000	0.71417	0.989000	0.46669	0.278000	0.26855	7.716000	0.84723	2.058000	0.61347	0.506000	0.49869	GAC		0.468	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		46	13	0	0	0	1	0	46	13				
ARID1A	8289	broad.mit.edu	37	1	27099395	27099395	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr1:27099395A>G	ENST00000324856.7	+	14	4003	c.3632A>G	c.(3631-3633)tAt>tGt	p.Y1211C	ARID1A_ENST00000540690.1_5'Flank|ARID1A_ENST00000374152.2_Missense_Mutation_p.Y828C|ARID1A_ENST00000457599.2_Missense_Mutation_p.Y1211C	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1211					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		AACCCTGGGTATCAGCCCAGT	0.488			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"""Mis, N, F, S, D"""	AT rich interactive domain 1A (SWI-like)			E			"""clear cell ovarian carcinoma, RCC"""	ARID1A/MAST2_ENST00000361297(2)	0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(3631-3633)tAt>tGt		AT rich interactive domain 1A (SWI-like)							95.0	96.0	96.0					1																	27099395		2203	4300	6503	SO:0001583	missense	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27099395A>G	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.3632A>G	1.37:g.27099395A>G	ENSP00000320485:p.Tyr1211Cys					ARID1A_ENST00000457599.2_Missense_Mutation_p.Y1211C|ARID1A_ENST00000374152.2_Missense_Mutation_p.Y828C	p.Y1211C	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	14	4003	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1211					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	ENST00000324856.7	37	c.3632A>G	CCDS285.1	.	.	.	.	.	.	.	.	.	.	A	13.81	2.347728	0.41599	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152	T;T;T	0.03330	4.12;4.04;3.97	5.34	4.2	0.49525	.	0.056225	0.64402	D	0.000001	T	0.14700	0.0355	M	0.65975	2.015	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;D;D;P	0.87578	0.998;0.996;0.939;0.87	T	0.00231	-1.1896	10	0.56958	D	0.05	-1.484	11.4843	0.50344	0.8585:0.0:0.0:0.1415	.	828;1211;1211;864	O14497-3;O14497;O14497-2;Q4LE49	.;ARI1A_HUMAN;.;.	C	1211;1211;828	ENSP00000320485:Y1211C;ENSP00000387636:Y1211C;ENSP00000363267:Y828C	ENSP00000320485:Y1211C	Y	+	2	0	ARID1A	26971982	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.527000	0.67123	1.026000	0.39733	0.533000	0.62120	TAT		0.488	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		12	34	0	0	0	1	0	12	34				
SNRNP35	11066	broad.mit.edu	37	12	123950460	123950460	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr12:123950460G>T	ENST00000526639.2	+	2	952	c.373G>T	c.(373-375)Gac>Tac	p.D125Y	SNRNP35_ENST00000350887.5_Missense_Mutation_p.D125Y|SNRNP35_ENST00000527158.2_Intron|SNRNP35_ENST00000412157.2_Missense_Mutation_p.D130Y	NM_022717.3	NP_073208.1	Q16560	U1SBP_HUMAN	small nuclear ribonucleoprotein 35kDa (U11/U12)	125	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						GATATTTGTGGACTACGAGCT	0.532																																						ENST00000526639.2																			0				NS(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						c.(373-375)Gac>Tac		small nuclear ribonucleoprotein 35kDa (U11/U12)							108.0	111.0	110.0					12																	123950460		2203	4300	6503	SO:0001583	missense	11066				mRNA processing	U12-type spliceosomal complex	nucleotide binding|RNA binding	g.chr12:123950460G>T	BC054034	CCDS9249.1, CCDS45005.1	12q24.31	2013-02-12				ENSG00000184209		"""RNA binding motif (RRM) containing"""	30852	protein-coding gene	gene with protein product	"""U1 snRNP binding protein homolog"""					10520751, 8889548	Standard	XM_005253545		Approved	U1SNRNPBP	uc001ufb.1	Q16560		ENST00000526639.2:c.373G>T	12.37:g.123950460G>T	ENSP00000432595:p.Asp125Tyr					SNRNP35_ENST00000412157.2_Missense_Mutation_p.D130Y|SNRNP35_ENST00000350887.5_Missense_Mutation_p.D125Y|SNRNP35_ENST00000527158.2_Intron	p.D125Y	NM_022717.2	NP_073208.1	Q16560	U1SBP_HUMAN			2	952	+			125			RRM.		A8K262|Q5XKN9	Missense_Mutation	SNP	ENST00000526639.2	37	c.373G>T	CCDS9249.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.294760	0.81025	.	.	ENSG00000184209	ENST00000526639;ENST00000412157;ENST00000350887	T;T;T	0.75704	-0.96;-0.96;-0.96	5.66	4.76	0.60689	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	D	0.000000	D	0.89726	0.6798	M	0.94021	3.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	D	0.92652	0.6134	10	0.87932	D	0	-35.5729	16.6251	0.84968	0.0:0.1302:0.8698:0.0	.	130;125	Q16560-2;Q16560	.;U1SBP_HUMAN	Y	125;130;125	ENSP00000432595:D125Y;ENSP00000403310:D130Y;ENSP00000340774:D125Y	ENSP00000340774:D125Y	D	+	1	0	SNRNP35	122516413	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.389000	0.97243	1.394000	0.46624	0.555000	0.69702	GAC		0.532	SNRNP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395197.2	NM_007020		40	63	1	0	3.61848e-18	1	3.94349e-18	40	63				
CNOT11	55571	broad.mit.edu	37	2	101869656	101869656	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr2:101869656A>T	ENST00000289382.3	+	1	393	c.230A>T	c.(229-231)gAg>gTg	p.E77V	TBC1D8_ENST00000462819.1_5'Flank	NM_017546.4	NP_060016.3	Q9UKZ1	CNO11_HUMAN	CCR4-NOT transcription complex, subunit 11	77					cell proliferation (GO:0008283)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|nucleus (GO:0005634)											ATCATATCGGAGGAGGCGGGC	0.706																																						ENST00000289382.3																			0											c.(229-231)gAg>gTg		CCR4-NOT transcription complex, subunit 11							12.0	13.0	13.0					2																	101869656		2145	4204	6349	SO:0001583	missense	55571							g.chr2:101869656A>T	AF103798	CCDS2050.1	2q12.1	2013-01-24	2013-01-24	2013-01-24	ENSG00000158435	ENSG00000158435			25217	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 29"""	C2orf29		10497265, 23232451, 23303381	Standard	NM_017546		Approved	C40	uc002taw.4	Q9UKZ1	OTTHUMG00000130686	ENST00000289382.3:c.230A>T	2.37:g.101869656A>T	ENSP00000289382:p.Glu77Val						p.E77V	NM_017546.4	NP_060016.3					1	393	+								Q6P2M9|Q8N681	Missense_Mutation	SNP	ENST00000289382.3	37	c.230A>T	CCDS2050.1	.	.	.	.	.	.	.	.	.	.	A	19.04	3.750836	0.69533	.	.	ENSG00000158435	ENST00000289382	.	.	.	5.05	3.88	0.44766	.	0.052500	0.85682	D	0.000000	T	0.59500	0.2198	M	0.68317	2.08	0.80722	D	1	B	0.12013	0.005	B	0.12156	0.007	T	0.58312	-0.7658	9	0.72032	D	0.01	-11.4651	11.1509	0.48458	0.8617:0.0:0.0:0.1383	.	77	Q9UKZ1	CB029_HUMAN	V	77	.	ENSP00000289382:E77V	E	+	2	0	C2orf29	101236088	1.000000	0.71417	0.998000	0.56505	0.855000	0.48748	8.581000	0.90788	0.752000	0.32923	0.482000	0.46254	GAG		0.706	CNOT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253181.1	NM_017546		7	13	0	0	0	1	0	7	13				
ZNF770	54989	broad.mit.edu	37	15	35275437	35275437	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr15:35275437G>C	ENST00000356321.4	-	3	543	c.199C>G	c.(199-201)Cta>Gta	p.L67V		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	67					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		AGATGAACTAGTTGTCTAAAG	0.363																																						ENST00000356321.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29						c.(199-201)Cta>Gta		zinc finger protein 770							80.0	78.0	79.0					15																	35275437		2201	4298	6499	SO:0001583	missense	54989				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:35275437G>C	BC071603	CCDS10042.1	15q14	2013-01-08			ENSG00000198146	ENSG00000198146		"""Zinc fingers, C2H2-type"""	26061	protein-coding gene	gene with protein product							Standard	NM_014106		Approved	FLJ20582, PRO1914	uc001ziw.3	Q6IQ21	OTTHUMG00000129689	ENST00000356321.4:c.199C>G	15.37:g.35275437G>C	ENSP00000348673:p.Leu67Val						p.L67V	NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)	3	543	-		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)	67					Q6ZMZ6|Q9NWV2	Missense_Mutation	SNP	ENST00000356321.4	37	c.199C>G	CCDS10042.1	.	.	.	.	.	.	.	.	.	.	G	4.641	0.119157	0.08881	.	.	ENSG00000198146	ENST00000356321	T	0.15372	2.43	5.0	4.1	0.47936	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.122797	0.36591	N	0.002516	T	0.23846	0.0577	N	0.25332	0.735	0.09310	N	1	D	0.71674	0.998	D	0.80764	0.994	T	0.04481	-1.0948	10	0.33141	T	0.24	-5.4544	8.2462	0.31691	0.2434:0.0:0.7566:0.0	.	67	Q6IQ21	ZN770_HUMAN	V	67	ENSP00000348673:L67V	ENSP00000348673:L67V	L	-	1	2	ZNF770	33062729	0.001000	0.12720	0.898000	0.35279	0.994000	0.84299	0.946000	0.29069	1.341000	0.45600	0.655000	0.94253	CTA		0.363	ZNF770-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251896.2	NM_014106		11	32	0	0	0	1	0	11	32				
RREB1	6239	broad.mit.edu	37	6	7230870	7230870	+	Missense_Mutation	SNP	G	G	T	rs531793725		TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr6:7230870G>T	ENST00000349384.6	+	10	2852	c.2538G>T	c.(2536-2538)gaG>gaT	p.E846D	RREB1_ENST00000379938.2_Missense_Mutation_p.E846D|RREB1_ENST00000379933.3_Missense_Mutation_p.E846D|RREB1_ENST00000334984.6_Missense_Mutation_p.E846D	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	846					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GGCGCGGGGAGGACAGTGGCT	0.711																																						ENST00000379938.2																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(2536-2538)gaG>gaT		ras responsive element binding protein 1							9.0	9.0	9.0					6																	7230870		1946	3807	5753	SO:0001583	missense	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7230870G>T	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"""Zinc fingers, C2H2-type"""	10449	protein-coding gene	gene with protein product	"""hindsight homolog (drosophila)"""	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.2538G>T	6.37:g.7230870G>T	ENSP00000305560:p.Glu846Asp					RREB1_ENST00000379933.3_Missense_Mutation_p.E846D|RREB1_ENST00000334984.6_Missense_Mutation_p.E846D|RREB1_ENST00000349384.6_Missense_Mutation_p.E846D	p.E846D	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN			10	3075	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	846					A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP	ENST00000349384.6	37	c.2538G>T	CCDS34336.1	.	.	.	.	.	.	.	.	.	.	G	1.855	-0.464037	0.04476	.	.	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984	T;T;T;T	0.11604	2.86;2.83;2.86;2.76	4.98	2.12	0.27331	.	0.438742	0.20818	N	0.085109	T	0.02688	0.0081	L	0.38838	1.175	0.31818	N	0.626363	B;B;B	0.14805	0.011;0.007;0.01	B;B;B	0.13407	0.008;0.004;0.009	T	0.34453	-0.9828	10	0.56958	D	0.05	-19.0385	5.1982	0.15249	0.2306:0.286:0.4833:0.0	.	846;846;846	Q92766-3;Q92766;Q92766-2	.;RREB1_HUMAN;.	D	846	ENSP00000369265:E846D;ENSP00000369270:E846D;ENSP00000305560:E846D;ENSP00000335574:E846D	ENSP00000335574:E846D	E	+	3	2	RREB1	7175869	0.997000	0.39634	0.231000	0.23993	0.018000	0.09664	0.256000	0.18351	0.239000	0.21243	0.655000	0.94253	GAG		0.711	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			11	15	1	0	1.11149e-13	1	1.20411e-13	11	15				
NLRP14	338323	broad.mit.edu	37	11	7064875	7064875	+	Missense_Mutation	SNP	C	C	G	rs373865085		TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr11:7064875C>G	ENST00000299481.4	+	4	1964	c.1618C>G	c.(1618-1620)Cga>Gga	p.R540G		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	540					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GAATGAAGATCGAGTAAAACA	0.348																																						ENST00000299481.4																			0				breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21						c.(1618-1620)Cga>Gga		NLR family, pyrin domain containing 14							73.0	75.0	74.0					11																	7064875		2201	4296	6497	SO:0001583	missense	338323				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	g.chr11:7064875C>G	BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"""Nucleotide-binding domain and leucine rich repeat containing"""	22939	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"""	609665	"""NACHT, leucine rich repeat and PYD containing 14"""	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.1618C>G	11.37:g.7064875C>G	ENSP00000299481:p.Arg540Gly						p.R540G	NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN		Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)	4	1964	+			540					Q7RTR6	Missense_Mutation	SNP	ENST00000299481.4	37	c.1618C>G	CCDS7776.1	.	.	.	.	.	.	.	.	.	.	C	9.478	1.097458	0.20552	.	.	ENSG00000158077	ENST00000299481	D	0.83755	-1.76	4.55	-1.59	0.08453	.	1.816260	0.03664	N	0.243047	T	0.78336	0.4267	L	0.46614	1.455	0.09310	N	1	P	0.35401	0.499	B	0.31614	0.133	T	0.65717	-0.6100	10	0.41790	T	0.15	.	13.1777	0.59637	0.7802:0.2198:0.0:0.0	.	540	Q86W24	NAL14_HUMAN	G	540	ENSP00000299481:R540G	ENSP00000299481:R540G	R	+	1	2	NLRP14	7021451	0.000000	0.05858	0.000000	0.03702	0.953000	0.61014	-0.744000	0.04839	-0.222000	0.09958	0.655000	0.94253	CGA		0.348	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822		9	46	0	0	0	1	0	9	46				
RPRD1A	55197	broad.mit.edu	37	18	33607167	33607167	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr18:33607167G>T	ENST00000399022.4	-	5	764	c.593C>A	c.(592-594)tCt>tAt	p.S198Y	RPRD1A_ENST00000357384.4_Missense_Mutation_p.S198Y|RPRD1A_ENST00000319040.6_Missense_Mutation_p.S198Y|RPRD1A_ENST00000588737.1_Missense_Mutation_p.S162Y|RPRD1A_ENST00000337059.5_Missense_Mutation_p.S162Y|RPRD1A_ENST00000590898.1_Missense_Mutation_p.S162Y	NM_018170.3	NP_060640.2	Q96P16	RPR1A_HUMAN	regulation of nuclear pre-mRNA domain containing 1A	198					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(2)	12						ATCTAATAGAGATACTTCTTG	0.373																																						ENST00000399022.4																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(2)	12						c.(592-594)tCt>tAt		regulation of nuclear pre-mRNA domain containing 1A							93.0	95.0	94.0					18																	33607167		2203	4300	6503	SO:0001583	missense	55197							g.chr18:33607167G>T	AF419845	CCDS11917.1	18q12.2	2012-02-09	2008-08-15		ENSG00000141425	ENSG00000141425			25560	protein-coding gene	gene with protein product	"""cyclin-dependent kinase 2B-inhibitor-related protein"", ""Cyclin-dependent kinase inhibitor 2B-related protein (p15INK4B-related protein)"""	610347				12470661, 22231121	Standard	NM_018170		Approved	P15RS, FLJ10656, HsT3101	uc002kzg.3	Q96P16	OTTHUMG00000132591	ENST00000399022.4:c.593C>A	18.37:g.33607167G>T	ENSP00000381984:p.Ser198Tyr					RPRD1A_ENST00000588737.1_Missense_Mutation_p.S162Y|RPRD1A_ENST00000590898.1_Missense_Mutation_p.S162Y|RPRD1A_ENST00000319040.6_Missense_Mutation_p.S198Y|RPRD1A_ENST00000337059.5_Missense_Mutation_p.S162Y|RPRD1A_ENST00000357384.4_Missense_Mutation_p.S198Y	p.S198Y	NM_018170.3	NP_060640.2	Q96P16	RPR1A_HUMAN			5	764	-			198					A8KA42|B2RBA3|Q7Z5G8|Q96FY9|Q9NVL4	Missense_Mutation	SNP	ENST00000399022.4	37	c.593C>A	CCDS11917.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.133207	0.77662	.	.	ENSG00000141425	ENST00000399022;ENST00000357384;ENST00000337059;ENST00000319040	.	.	.	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.79822	0.4512	M	0.79123	2.44	0.80722	D	1	D;D;D	0.89917	1.0;0.995;1.0	D;D;D	0.85130	0.997;0.928;0.996	T	0.82287	-0.0532	9	0.87932	D	0	-5.3883	16.6336	0.85040	0.0:0.0:1.0:0.0	.	198;198;162	Q96P16-2;Q96P16;Q96P16-3	.;RPR1A_HUMAN;.	Y	198;198;162;198	.	ENSP00000314602:S198Y	S	-	2	0	RPRD1A	31861165	1.000000	0.71417	0.974000	0.42286	0.867000	0.49689	7.504000	0.81646	2.583000	0.87209	0.650000	0.86243	TCT		0.373	RPRD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255802.1	NM_018170		19	49	1	0	2.35188e-11	1	2.50317e-11	19	49				
CROCCP2	84809	broad.mit.edu	37	1	16945765	16945765	+	lincRNA	SNP	C	C	A			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr1:16945765C>A	ENST00000412962.1	-	0	1754				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											GGCACAACGGCAGTCACAAGA	0.562																																						ENST00000412962.1																			0																																																			84809							g.chr1:16945765C>A	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16945765C>A														0	1754	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.562	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		6	26	1	0	0.00621372	1	0.00628276	6	26				
EFR3A	23167	broad.mit.edu	37	8	132991143	132991143	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr8:132991143C>G	ENST00000254624.5	+	13	1601	c.1376C>G	c.(1375-1377)tCt>tGt	p.S459C	EFR3A_ENST00000519656.1_Missense_Mutation_p.S423C|EFR3A_ENST00000334503.4_Missense_Mutation_p.S459C	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	459						extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			CTGCCAGGGTCTTTCCTGGAT	0.418																																						ENST00000254624.5																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35						c.(1375-1377)tCt>tGt		EFR3 homolog A (S. cerevisiae)							142.0	120.0	127.0					8																	132991143		2203	4300	6503	SO:0001583	missense	23167					plasma membrane	binding	g.chr8:132991143C>G	D63477	CCDS34942.2	8q24.22	2008-10-23			ENSG00000132294	ENSG00000132294			28970	protein-coding gene	gene with protein product		611798				15363888	Standard	NM_015137		Approved	KIAA0143	uc003yte.3	Q14156	OTTHUMG00000150552	ENST00000254624.5:c.1376C>G	8.37:g.132991143C>G	ENSP00000254624:p.Ser459Cys					EFR3A_ENST00000519656.1_Missense_Mutation_p.S423C|EFR3A_ENST00000334503.4_Missense_Mutation_p.S459C	p.S459C	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)		13	1601	+	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		459					A7MD19|Q2VPK2|Q63HL7|Q68DX1|Q6IQ18	Missense_Mutation	SNP	ENST00000254624.5	37	c.1376C>G	CCDS34942.2	.	.	.	.	.	.	.	.	.	.	C	25.6	4.659369	0.88154	.	.	ENSG00000132294	ENST00000254624;ENST00000377917;ENST00000334503;ENST00000519656	T;T;T	0.67523	3.49;3.49;-0.27	5.71	5.71	0.89125	Armadillo-type fold (1);	0.261727	0.42294	D	0.000733	T	0.74520	0.3727	M	0.64170	1.965	0.44966	D	0.997981	P	0.51240	0.943	P	0.50617	0.646	T	0.77127	-0.2702	10	0.87932	D	0	-9.9579	18.9207	0.92523	0.0:1.0:0.0:0.0	.	459	Q14156	EFR3A_HUMAN	C	459;459;459;423	ENSP00000254624:S459C;ENSP00000334769:S459C;ENSP00000428086:S423C	ENSP00000254624:S459C	S	+	2	0	EFR3A	133060325	0.679000	0.27596	1.000000	0.80357	0.984000	0.73092	4.654000	0.61469	2.720000	0.93068	0.650000	0.86243	TCT		0.418	EFR3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318886.1	NM_015137		48	151	0	0	0	1	0	48	151				
DNMT1	1786	broad.mit.edu	37	19	10262217	10262217	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr19:10262217G>A	ENST00000340748.4	-	23	2309	c.2074C>T	c.(2074-2076)Ccc>Tcc	p.P692S	DNMT1_ENST00000359526.4_Missense_Mutation_p.P708S|DNMT1_ENST00000540357.1_Missense_Mutation_p.P692S			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	692	Required for activity.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	GCCATATTGGGACACCTGCAA	0.483																																						ENST00000340748.4																			0				breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70						c.(2074-2076)Ccc>Tcc		DNA (cytosine-5-)-methyltransferase 1	Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)						187.0	165.0	172.0					19																	10262217		2203	4300	6503	SO:0001583	missense	1786				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding	g.chr19:10262217G>A	X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.2074C>T	19.37:g.10262217G>A	ENSP00000345739:p.Pro692Ser					DNMT1_ENST00000540357.1_Missense_Mutation_p.P692S|DNMT1_ENST00000359526.4_Missense_Mutation_p.P708S	p.P692S			P26358	DNMT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		23	2309	-			692			Required for activity.		A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Missense_Mutation	SNP	ENST00000340748.4	37	c.2074C>T	CCDS12228.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.041655	0.93685	.	.	ENSG00000130816	ENST00000359526;ENST00000540357;ENST00000340748;ENST00000541266	T;T;T	0.27256	1.84;1.68;1.68	5.34	5.34	0.76211	Zinc finger, CXXC-type (1);	0.108648	0.64402	D	0.000005	T	0.53384	0.1793	M	0.75777	2.31	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.56691	-0.7937	10	0.72032	D	0.01	.	17.8296	0.88677	0.0:0.0:1.0:0.0	.	692;708;692	F5GX68;P26358-2;P26358	.;.;DNMT1_HUMAN	S	708;692;692;560	ENSP00000352516:P708S;ENSP00000440457:P692S;ENSP00000345739:P692S	ENSP00000345739:P692S	P	-	1	0	DNMT1	10123217	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.303000	0.96183	2.494000	0.84150	0.561000	0.74099	CCC		0.483	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379		30	110	0	0	0	1	0	30	110				
MEGF8	1954	broad.mit.edu	37	19	42839203	42839203	+	Missense_Mutation	SNP	G	G	A	rs548945656	byFrequency	TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr19:42839203G>A	ENST00000251268.6	+	4	575	c.575G>A	c.(574-576)cGc>cAc	p.R192H	MEGF8_ENST00000334370.4_Missense_Mutation_p.R192H	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	192	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GGACCATGCCGCTGTGAGCCT	0.592													G|||	2	0.000399361	0.0015	0.0	5008	,	,		18897	0.0		0.0	False		,,,				2504	0.0					ENST00000334370.4																			0				breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(574-576)cGc>cAc		multiple EGF-like-domains 8							34.0	37.0	36.0					19																	42839203		2075	4207	6282	SO:0001583	missense	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42839203G>A	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.575G>A	19.37:g.42839203G>A	ENSP00000251268:p.Arg192His					MEGF8_ENST00000251268.6_Missense_Mutation_p.R192H	p.R192H	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN			4	1210	+		Prostate(69;0.00682)	192			EGF-like 2.		A8KAY0|O75097	Missense_Mutation	SNP	ENST00000251268.6	37	c.575G>A		.	.	.	.	.	.	.	.	.	.	G	19.20	3.780706	0.70222	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.21361	2.02;2.01	5.27	1.6	0.23607	.	.	.	.	.	T	0.12902	0.0313	N	0.08118	0	0.80722	D	1	D	0.67145	0.996	P	0.53809	0.735	T	0.25950	-1.0117	9	0.22706	T	0.39	.	3.3323	0.07089	0.2488:0.0:0.5571:0.1942	.	192	Q7Z7M0-2	.	H	192	ENSP00000334219:R192H;ENSP00000251268:R192H	ENSP00000251268:R192H	R	+	2	0	MEGF8	47531043	0.992000	0.36948	0.992000	0.48379	0.918000	0.54935	0.391000	0.20784	0.430000	0.26230	0.479000	0.44913	CGC		0.592	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		3	25	0	0	0	1	0	3	25				
SPA17	53340	broad.mit.edu	37	11	124564308	124564308	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr11:124564308G>A	ENST00000532692.1	+	4	1843	c.422G>A	c.(421-423)aGt>aAt	p.S141N	SPA17_ENST00000227135.2_Missense_Mutation_p.S141N|SIAE_ENST00000525730.1_5'UTR|SPA17_ENST00000524614.1_3'UTR			Q15506	SP17_HUMAN	sperm autoantigenic protein 17	141	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.				binding of sperm to zona pellucida (GO:0007339)|epithelial cilium movement (GO:0003351)|single fertilization (GO:0007338)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|membrane (GO:0016020)|motile cilium (GO:0031514)|primary cilium (GO:0072372)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	5	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0223)		AAAACAAATAGTCTTCAAAAT	0.393																																						ENST00000532692.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	5						c.(421-423)aGt>aAt		sperm autoantigenic protein 17							99.0	98.0	98.0					11																	124564308		2201	4299	6500	SO:0001583	missense	53340				binding of sperm to zona pellucida|ciliary or flagellar motility|signal transduction|spermatogenesis	cytoplasm|flagellum|membrane|motile cilium|primary cilium	cAMP-dependent protein kinase regulator activity	g.chr11:124564308G>A	AF334735	CCDS8450.1	11q24.2	2009-03-12			ENSG00000064199	ENSG00000064199			11210	protein-coding gene	gene with protein product	"""cancer/testis antigen 22"""	608621				8688458	Standard	NM_017425		Approved	SP17, CT22	uc001qap.3	Q15506	OTTHUMG00000165927	ENST00000532692.1:c.422G>A	11.37:g.124564308G>A	ENSP00000432305:p.Ser141Asn					SPA17_ENST00000227135.2_Missense_Mutation_p.S141N|SPA17_ENST00000524614.1_3'UTR|SIAE_ENST00000525730.1_5'UTR	p.S141N			Q15506	SP17_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0223)	4	1843	+	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	141			IQ.		B2R4F2|Q9BXF7	Missense_Mutation	SNP	ENST00000532692.1	37	c.422G>A	CCDS8450.1	.	.	.	.	.	.	.	.	.	.	G	0.642	-0.812944	0.02798	.	.	ENSG00000064199	ENST00000227135;ENST00000532692	.	.	.	4.87	-1.9	0.07665	.	3.857200	0.00766	N	0.001178	T	0.28532	0.0706	L	0.38175	1.15	0.09310	N	1	B	0.26002	0.139	B	0.22386	0.039	T	0.04811	-1.0925	9	0.27785	T	0.31	5.3675	0.9373	0.01347	0.3579:0.3039:0.1901:0.1481	.	141	Q15506	SP17_HUMAN	N	141	.	ENSP00000227135:S141N	S	+	2	0	SPA17	124069518	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.583000	0.23849	-0.212000	0.10109	-1.054000	0.02325	AGT		0.393	SPA17-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387075.1	NM_017425		33	36	0	0	0	1	0	33	36				
PLA2G4B	100137049	broad.mit.edu	37	15	42137412	42137412	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr15:42137412C>A	ENST00000452633.1	+	15	1603	c.1251C>A	c.(1249-1251)caC>caA	p.H417Q	JMJD7-PLA2G4B_ENST00000382448.4_Missense_Mutation_p.H648Q|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.H648Q|PLA2G4B_ENST00000542534.2_Missense_Mutation_p.H648Q|PLA2G4B_ENST00000458483.1_Missense_Mutation_p.H417Q			P0C869	PA24B_HUMAN	phospholipase A2, group IVB (cytosolic)	417	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|arachidonic acid metabolic process (GO:0019369)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|parturition (GO:0007567)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)						all_cancers(109;1.84e-13)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		all cancers(2;1.08e-30)|Epithelial(2;1.43e-22)|OV - Ovarian serous cystadenocarcinoma(18;1.13e-17)|GBM - Glioblastoma multiforme(94;9.77e-07)|Colorectal(2;0.0129)|COAD - Colon adenocarcinoma(120;0.0371)		CCCATGATCACAAGCTCTCAG	0.597																																						ENST00000382448.4																			0				endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						c.(1942-1944)caC>caA									79.0	66.0	71.0					15																	42137412		2203	4300	6503	SO:0001583	missense	8681				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity	g.chr15:42137412C>A	AF065215	CCDS45241.1	15q11.2-q21.3	2010-08-17			ENSG00000243708	ENSG00000243708	3.1.1.4		9036	protein-coding gene	gene with protein product		606088				9705332	Standard	NM_001114633		Approved	cPLA2-beta, HsT16992		P0C869	OTTHUMG00000156809	ENST00000452633.1:c.1251C>A	15.37:g.42137412C>A	ENSP00000396045:p.His417Gln					PLA2G4B_ENST00000452633.1_Missense_Mutation_p.H417Q|JMJD7-PLA2G4B_ENST00000458483.1_Missense_Mutation_p.H417Q|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.H648Q	p.H648Q	NM_005090.3	NP_005081.1	P0C869	PA24B_HUMAN			19	1953	+			417			PLA2c.		B4DRT9|O95712|Q19KD5|Q19KD6|Q59GF9|Q8TB10|Q9UKV7	Missense_Mutation	SNP	ENST00000452633.1	37	c.1944C>A	CCDS45241.1	.	.	.	.	.	.	.	.	.	.	.	4.510	0.094682	0.08681	.	.	ENSG00000168970;ENSG00000168970;ENSG00000168970;ENSG00000243708	ENST00000382448;ENST00000342159;ENST00000458483;ENST00000452633	T;T;T;T	0.10960	2.82;2.82;2.82;2.82	5.45	3.57	0.40892	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (3);	0.350840	0.27595	N	0.018672	T	0.11623	0.0283	N	0.11313	0.125	0.37221	D	0.905264	B;B;B;D	0.71674	0.042;0.118;0.012;0.998	B;B;B;P	0.59703	0.037;0.126;0.008;0.862	T	0.32025	-0.9922	10	0.24483	T	0.36	-5.4318	11.4802	0.50320	0.0:0.8504:0.0:0.1496	.	417;648;118;648	P0C869;P0C869-7;P0C869-4;P0C869-6	PA24B_HUMAN;.;.;.	Q	648;648;417;417	ENSP00000371886:H648Q;ENSP00000342785:H648Q;ENSP00000416610:H417Q;ENSP00000396045:H417Q	ENSP00000342785:H648Q	H	+	3	2	JMJD7-PLA2G4B;PLA2G4B	39924704	0.108000	0.22018	0.929000	0.37066	0.125000	0.20455	0.315000	0.19451	0.806000	0.34183	-0.258000	0.10820	CAC		0.597	PLA2G4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345969.1	NM_001114633		10	20	1	0	9.70103e-10	1	1.02057e-09	10	20				
LGALS8	3964	broad.mit.edu	37	1	236706280	236706280	+	Intron	SNP	T	T	G			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr1:236706280T>G	ENST00000366584.4	+	7	1115				RP11-385F5.4_ENST00000433131.1_RNA|LGALS8_ENST00000416919.2_Missense_Mutation_p.D146E|LGALS8_ENST00000352231.2_Missense_Mutation_p.D205E|LGALS8_ENST00000341872.6_Intron|LGALS8_ENST00000450372.2_Missense_Mutation_p.D205E|LGALS8_ENST00000323938.6_Intron|LGALS8_ENST00000526634.1_Intron|LGALS8_ENST00000526589.1_Missense_Mutation_p.D205E|LGALS8_ENST00000527974.1_Missense_Mutation_p.D205E|LGALS8_ENST00000525042.1_Missense_Mutation_p.D146E	NM_201544.2	NP_963838.1	O00214	LEG8_HUMAN	lectin, galactoside-binding, soluble, 8						plasma cell differentiation (GO:0002317)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(5)	20	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.0253)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AGAGCAAAGATTCGACTGTCA	0.378																																						ENST00000526589.1																			0				kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(5)	20						c.(613-615)gaT>gaG		lectin, galactoside-binding, soluble, 8							120.0	114.0	116.0					1																	236706280		2203	4300	6503	SO:0001627	intron_variant	3964					cytoplasm|extracellular space	sugar binding	g.chr1:236706280T>G	X91790	CCDS1611.1, CCDS1612.1	1q43	2011-08-04	2008-07-25		ENSG00000116977	ENSG00000116977		"""Lectins, galactoside-binding"""	6569	protein-coding gene	gene with protein product	"""galectin 8"""	606099				7852431, 8692978	Standard	NM_201545		Approved	PCTA-1	uc001hxy.2	O00214	OTTHUMG00000039953	ENST00000366584.4:c.549+193T>G	1.37:g.236706280T>G						LGALS8_ENST00000341872.6_Intron|LGALS8_ENST00000416919.2_Missense_Mutation_p.D146E|LGALS8_ENST00000525042.1_Missense_Mutation_p.D146E|LGALS8_ENST00000450372.2_Missense_Mutation_p.D205E|RP11-385F5.4_ENST00000433131.1_RNA|LGALS8_ENST00000366584.4_Intron|LGALS8_ENST00000352231.2_Missense_Mutation_p.D205E|LGALS8_ENST00000323938.6_Intron|LGALS8_ENST00000527974.1_Missense_Mutation_p.D205E|LGALS8_ENST00000526634.1_Intron	p.D205E			O00214	LEG8_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		11	1135	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.0253)|Prostate(94;0.174)	183			Galectin 2.		O15215|Q5T3P5|Q5T3Q4|Q8TEV1|Q96B92|Q9BXC8|Q9H584|Q9H585|Q9UEZ6|Q9UP32|Q9UP33|Q9UP34	Missense_Mutation	SNP	ENST00000366584.4	37	c.615T>G	CCDS1612.1	.	.	.	.	.	.	.	.	.	.	T	1.272	-0.612712	0.03690	.	.	ENSG00000116977	ENST00000527974;ENST00000352231;ENST00000406509;ENST00000526589;ENST00000450372;ENST00000416919;ENST00000525042	T;T;T;T;T;T;T	0.05786	3.7;3.7;3.39;3.7;3.7;3.73;3.73	4.36	3.24	0.37175	.	1.068970	0.07190	N	0.855553	T	0.03390	0.0098	N	0.08118	0	0.09310	N	1	B;B	0.30281	0.039;0.275	B;B	0.24155	0.035;0.051	T	0.43893	-0.9363	10	0.22109	T	0.4	.	6.569	0.22529	0.0:0.1062:0.0:0.8938	.	146;205	F6V2D4;O00214-2	.;.	E	205;205;205;205;205;146;146	ENSP00000431398:D205E;ENSP00000309576:D205E;ENSP00000385999:D205E;ENSP00000435460:D205E;ENSP00000408657:D205E;ENSP00000410843:D146E;ENSP00000431884:D146E	ENSP00000309576:D205E	D	+	3	2	LGALS8	234772903	0.010000	0.17322	0.121000	0.21740	0.818000	0.46254	0.254000	0.18314	1.018000	0.39521	0.533000	0.62120	GAT		0.378	LGALS8-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000096365.2	NM_006499		11	65	0	0	0	1	0	11	65				
MYO7A	4647	broad.mit.edu	37	11	76877187	76877187	+	Silent	SNP	C	C	A			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr11:76877187C>A	ENST00000409709.3	+	15	2048	c.1776C>A	c.(1774-1776)atC>atA	p.I592I	MYO7A_ENST00000409619.2_Silent_p.I581I|MYO7A_ENST00000409893.1_Silent_p.I592I|MYO7A_ENST00000458637.2_Silent_p.I592I	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	592	Myosin motor.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TCAAGCAGATCTTCCAGGCCG	0.587																																						ENST00000409709.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(1774-1776)atC>atA		myosin VIIA							71.0	70.0	71.0					11																	76877187		1986	4151	6137	SO:0001819	synonymous_variant	4647				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr11:76877187C>A	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.1776C>A	11.37:g.76877187C>A						MYO7A_ENST00000409893.1_Silent_p.I592I|MYO7A_ENST00000409619.2_Silent_p.I581I|MYO7A_ENST00000458637.2_Silent_p.I592I	p.I592I	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN			15	2048	+			592			Myosin head-like.		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Silent	SNP	ENST00000409709.3	37	c.1776C>A	CCDS53683.1																																																																																				0.587	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		18	15	1	0	3.32936e-07	1	3.42341e-07	18	15				
GPR125	166647	broad.mit.edu	37	4	22390433	22390433	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr4:22390433T>A	ENST00000334304.5	-	19	3130	c.2861A>T	c.(2860-2862)gAg>gTg	p.E954V	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	954					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				CTCCGTGGGCTCCTTAAGCTC	0.423																																						ENST00000334304.5																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56						c.(2860-2862)gAg>gTg		G protein-coupled receptor 125							81.0	83.0	82.0					4																	22390433		2203	4300	6503	SO:0001583	missense	166647				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	g.chr4:22390433T>A	AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"""	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.2861A>T	4.37:g.22390433T>A	ENSP00000334952:p.Glu954Val					GPR125_ENST00000282943.5_5'UTR	p.E954V	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN			19	3130	-		Breast(46;0.198)	954					Q6UXK9|Q86SQ5|Q8TC55	Missense_Mutation	SNP	ENST00000334304.5	37	c.2861A>T	CCDS33964.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.515379	0.85389	.	.	ENSG00000152990	ENST00000334304	T	0.45668	0.89	5.84	5.84	0.93424	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.60728	0.2291	M	0.73962	2.25	0.80722	D	1	P;D	0.61697	0.705;0.99	P;P	0.57846	0.525;0.828	T	0.62807	-0.6776	10	0.48119	T	0.1	-39.1164	16.2047	0.82120	0.0:0.0:0.0:1.0	.	811;954	Q8IWK6-3;Q8IWK6	.;GP125_HUMAN	V	954	ENSP00000334952:E954V	ENSP00000334952:E954V	E	-	2	0	GPR125	21999531	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.694000	0.84235	2.220000	0.72140	0.528000	0.53228	GAG		0.423	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3			10	67	0	0	0	1	0	10	67				
LRRC37A4P	55073	broad.mit.edu	37	17	43587657	43587657	+	RNA	SNP	C	C	T			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr17:43587657C>T	ENST00000579913.1	-	0	1396				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		GGTGACAACACATCTGTTTTA	0.323																																						ENST00000253803.2																			0																																																			100294341							g.chr17:43587657C>T	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587657C>T						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.323	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		4	62	0	0	0	1	0	4	62				
C1orf87	127795	broad.mit.edu	37	1	60456431	60456431	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr1:60456431G>C	ENST00000371201.3	-	12	1662	c.1555C>G	c.(1555-1557)Cag>Gag	p.Q519E	C1orf87_ENST00000395552.1_Missense_Mutation_p.Q153E|C1orf87_ENST00000486478.1_5'UTR|C1orf87_ENST00000450089.2_Missense_Mutation_p.Q290E	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	519							calcium ion binding (GO:0005509)			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						TCGATTTTCTGAGGGCTCAGG	0.493																																					NSCLC(75;811 1386 4923 13371 51772)	ENST00000371201.3																			0				breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1555-1557)Cag>Gag		chromosome 1 open reading frame 87							245.0	253.0	251.0					1																	60456431		2203	4300	6503	SO:0001583	missense	127795						calcium ion binding	g.chr1:60456431G>C	AK124828	CCDS614.1	1p32.1	2014-04-03			ENSG00000162598	ENSG00000162598			28547	protein-coding gene	gene with protein product	"""carcinoma-related EF-hand protein"""					12477932	Standard	NM_152377		Approved	MGC34837, CREF	uc001czs.2	Q8N0U7	OTTHUMG00000008992	ENST00000371201.3:c.1555C>G	1.37:g.60456431G>C	ENSP00000360244:p.Gln519Glu					C1orf87_ENST00000395552.1_Missense_Mutation_p.Q153E|C1orf87_ENST00000450089.2_Missense_Mutation_p.Q290E|C1orf87_ENST00000486478.1_5'UTR	p.Q519E	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN			12	1662	-			519					Q6ZU07|Q8IVS0	Missense_Mutation	SNP	ENST00000371201.3	37	c.1555C>G	CCDS614.1	.	.	.	.	.	.	.	.	.	.	G	13.25	2.182063	0.38511	.	.	ENSG00000162598	ENST00000371201;ENST00000395552	T;T	0.29917	2.3;1.55	4.72	3.79	0.43588	EF-hand-like domain (1);	1.090830	0.07095	N	0.839489	T	0.22820	0.0551	N	0.22421	0.69	0.18873	N	0.999988	B	0.09022	0.002	B	0.08055	0.003	T	0.18871	-1.0323	10	0.11794	T	0.64	-0.8316	13.154	0.59505	0.0:0.0:0.8387:0.1613	.	519	Q8N0U7	CA087_HUMAN	E	519;153	ENSP00000360244:Q519E;ENSP00000378921:Q153E	ENSP00000360244:Q519E	Q	-	1	0	C1orf87	60229019	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	4.516000	0.60496	1.164000	0.42652	0.563000	0.77884	CAG		0.493	C1orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024943.1	NM_152377		49	355	0	0	0	1	0	49	355				
EBF1	1879	broad.mit.edu	37	5	158141128	158141128	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr5:158141128G>C	ENST00000313708.6	-	12	1470	c.1188C>G	c.(1186-1188)aaC>aaG	p.N396K	EBF1_ENST00000380654.4_Missense_Mutation_p.N365K|EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000517373.1_Missense_Mutation_p.N388K	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	396					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|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)		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CGCTCACCTGGTTGTTGTGTG	0.448			T	HMGA2	lipoma																																	ENST00000313708.6				Dom	yes		5	5q34	1879	T	early B-cell factor 1			M	HMGA2		lipoma	HMGA2/EBF1(2)	0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						c.(1186-1188)aaC>aaG		early B-cell factor 1							220.0	199.0	206.0					5																	158141128		2203	4300	6503	SO:0001583	missense	1879				multicellular organismal development	nucleus	DNA binding|metal ion binding	g.chr5:158141128G>C	AF208502	CCDS4343.1	5q34	2008-02-05	2006-09-26	2006-09-26	ENSG00000164330	ENSG00000164330			3126	protein-coding gene	gene with protein product		164343	"""early B-cell factor"""	EBF		8012110	Standard	NM_024007		Approved	OLF1	uc010jip.3	Q9UH73	OTTHUMG00000130304	ENST00000313708.6:c.1188C>G	5.37:g.158141128G>C	ENSP00000322898:p.Asn396Lys					EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000380654.4_Missense_Mutation_p.N365K|EBF1_ENST00000517373.1_Missense_Mutation_p.N388K	p.N396K	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		12	1470	-	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	396					Q8IW11	Missense_Mutation	SNP	ENST00000313708.6	37	c.1188C>G	CCDS4343.1	.	.	.	.	.	.	.	.	.	.	G	19.96	3.923157	0.73213	.	.	ENSG00000164330	ENST00000318060;ENST00000313708;ENST00000380654;ENST00000517373	D;D;D	0.87966	-2.32;-2.32;-2.32	5.76	4.88	0.63580	.	0.000000	0.85682	D	0.000000	D	0.92153	0.7512	M	0.80982	2.52	0.49582	D	0.999804	P;D;P;P	0.69078	0.948;0.997;0.786;0.863	B;D;B;B	0.68765	0.294;0.96;0.17;0.32	D	0.91635	0.5322	10	0.51188	T	0.08	-8.0696	10.4269	0.44385	0.1441:0.0:0.8559:0.0	.	396;383;396;365	A8K0Z7;B4E2U8;Q9UH73;Q9UH73-2	.;.;COE1_HUMAN;.	K	396;396;365;388	ENSP00000322898:N396K;ENSP00000370029:N365K;ENSP00000428020:N388K	ENSP00000322898:N396K	N	-	3	2	EBF1	158073706	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.635000	0.54309	2.713000	0.92767	0.655000	0.94253	AAC		0.448	EBF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252649.1	NM_024007		18	75	0	0	0	1	0	18	75				
IL6	3569	broad.mit.edu	37	7	22768412	22768412	+	Missense_Mutation	SNP	C	C	G	rs202210223		TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr7:22768412C>G	ENST00000404625.1	+	4	770	c.311C>G	c.(310-312)tCt>tGt	p.S104C	IL6_ENST00000407492.1_Missense_Mutation_p.S28C|IL6_ENST00000401630.3_Missense_Mutation_p.S81C|AC073072.5_ENST00000325042.2_RNA|IL6_ENST00000406575.1_Missense_Mutation_p.S104C|IL6_ENST00000401651.1_Missense_Mutation_p.S28C|IL6_ENST00000420258.2_Missense_Mutation_p.S158C|IL6_ENST00000258743.5_Missense_Mutation_p.S104C			P05231	IL6_HUMAN	interleukin 6	104					acute-phase response (GO:0006953)|aging (GO:0007568)|bone remodeling (GO:0046849)|branching involved in salivary gland morphogenesis (GO:0060445)|cell growth (GO:0016049)|cell redox homeostasis (GO:0045454)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endocrine pancreas development (GO:0031018)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|glucagon secretion (GO:0070091)|hepatic immune response (GO:0002384)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|interleukin-6-mediated signaling pathway (GO:0070102)|monocyte chemotaxis (GO:0002548)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine biosynthetic process (GO:0045079)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of hormone secretion (GO:0046888)|negative regulation of lipid storage (GO:0010888)|negative regulation of muscle organ development (GO:0048635)|negative regulation of neuron death (GO:1901215)|negative regulation of protein kinase activity (GO:0006469)|neuron projection development (GO:0031175)|neutrophil apoptotic process (GO:0001781)|neutrophil mediated immunity (GO:0002446)|platelet activation (GO:0030168)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell activation (GO:0050871)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine production (GO:0032722)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of angiogenesis (GO:0045765)|regulation of cell shape (GO:0008360)|regulation of circadian sleep/wake cycle, non-REM sleep (GO:0045188)|regulation of vascular endothelial growth factor production (GO:0010574)|response to amino acid (GO:0043200)|response to antibiotic (GO:0046677)|response to caffeine (GO:0031000)|response to calcium ion (GO:0051592)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to glucocorticoid (GO:0051384)|response to heat (GO:0009408)|response to insulin (GO:0032868)|response to mechanical stimulus (GO:0009612)|response to nutrient levels (GO:0031667)|response to peptidoglycan (GO:0032494)|T-helper 17 cell lineage commitment (GO:0072540)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|interleukin-6 receptor complex (GO:0005896)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|interleukin-6 receptor binding (GO:0005138)			breast(1)|endometrium(2)|large_intestine(4)|lung(1)	8					Ginseng(DB01404)	TGCTTCCAATCTGGATTCAAT	0.428																																					Esophageal Squamous(47;342 1214 13936 33513)	ENST00000404625.1																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(1)	8						c.(310-312)tCt>tGt		interleukin 6 (interferon, beta 2)	Arsenic trioxide(DB01169)|Bicalutamide(DB01128)|Ginseng(DB01404)|Simvastatin(DB00641)						142.0	117.0	125.0					7																	22768412		2203	4300	6503	SO:0001583	missense	3569				acute-phase response|cellular response to hydrogen peroxide|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|defense response to virus|endocrine pancreas development|glucagon secretion|hepatic immune response|interleukin-6-mediated signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of chemokine biosynthetic process|negative regulation of collagen biosynthetic process|negative regulation of fat cell differentiation|negative regulation of lipid storage|neuron projection development|neutrophil apoptosis|platelet activation|positive regulation of acute inflammatory response|positive regulation of anti-apoptosis|positive regulation of B cell activation|positive regulation of chemokine production|positive regulation of immunoglobulin secretion|positive regulation of interleukin-6 production|positive regulation of osteoblast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of smooth muscle cell proliferation|positive regulation of T cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of translation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of vascular endothelial growth factor production|response to glucocorticoid stimulus|response to peptidoglycan	extracellular space|interleukin-6 receptor complex	cytokine activity|growth factor activity|interleukin-6 receptor binding	g.chr7:22768412C>G	M18403	CCDS5375.1	7p21-p15	2014-04-04	2014-04-04		ENSG00000136244	ENSG00000136244		"""Interleukins and interleukin receptors"", ""Interferons"""	6018	protein-coding gene	gene with protein product	"""interferon, beta 2"""	147620	"""interleukin 6 (interferon, beta 2)"""	IFNB2		3294161	Standard	NM_000600		Approved	IL-6, BSF2, HGF, HSF	uc003svj.4	P05231	OTTHUMG00000023178	ENST00000404625.1:c.311C>G	7.37:g.22768412C>G	ENSP00000385675:p.Ser104Cys					IL6_ENST00000401630.3_Missense_Mutation_p.S81C|IL6_ENST00000258743.5_Missense_Mutation_p.S104C|IL6_ENST00000406575.1_Missense_Mutation_p.S104C|IL6_ENST00000401651.1_Missense_Mutation_p.S28C|IL6_ENST00000420258.2_Missense_Mutation_p.S158C|IL6_ENST00000407492.1_Missense_Mutation_p.S28C	p.S104C			P05231	IL6_HUMAN			4	770	+			104					Q9UCU2|Q9UCU3|Q9UCU4	Missense_Mutation	SNP	ENST00000404625.1	37	c.311C>G	CCDS5375.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.449307	0.63178	.	.	ENSG00000136244	ENST00000404625;ENST00000426291;ENST00000401651;ENST00000258743;ENST00000420258;ENST00000407492;ENST00000401630;ENST00000406575	T;T;T;T;T;T;T;T	0.20200	2.09;2.09;2.09;2.09;2.09;2.09;2.09;2.09	5.77	0.257	0.15574	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.622803	0.18449	N	0.140884	T	0.37625	0.1010	M	0.74647	2.275	0.09310	N	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.996;0.979	T	0.17806	-1.0357	10	0.87932	D	0	-0.0738	3.4699	0.07563	0.4236:0.3546:0.1376:0.0841	.	158;104;104	B4DNQ5;B5MC14;P05231	.;.;IL6_HUMAN	C	104;104;28;104;158;28;81;104	ENSP00000385675:S104C;ENSP00000405150:S104C;ENSP00000385718:S28C;ENSP00000258743:S104C;ENSP00000405994:S158C;ENSP00000385043:S28C;ENSP00000384928:S81C;ENSP00000385227:S104C	ENSP00000258743:S104C	S	+	2	0	IL6	22734937	0.000000	0.05858	0.000000	0.03702	0.433000	0.31745	0.061000	0.14366	-0.242000	0.09667	0.561000	0.74099	TCT		0.428	IL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250225.2	NM_000600		13	24	0	0	0	1	0	13	24				
FLRT2	23768	broad.mit.edu	37	14	86088559	86088559	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr14:86088559A>T	ENST00000330753.4	+	2	1468	c.701A>T	c.(700-702)gAa>gTa	p.E234V	FLRT2_ENST00000554746.1_Missense_Mutation_p.E234V	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	234					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		AAGCTCAAGGAATTTTCAATT	0.512																																						ENST00000330753.4																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73						c.(700-702)gAa>gTa		fibronectin leucine rich transmembrane protein 2							88.0	88.0	88.0					14																	86088559		2203	4300	6503	SO:0001583	missense	23768				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr14:86088559A>T	AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.701A>T	14.37:g.86088559A>T	ENSP00000332879:p.Glu234Val					FLRT2_ENST00000554746.1_Missense_Mutation_p.E234V	p.E234V	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0319)	2	1468	+			234					A0AV84|B7ZLP3	Missense_Mutation	SNP	ENST00000330753.4	37	c.701A>T	CCDS9877.1	.	.	.	.	.	.	.	.	.	.	A	19.80	3.894528	0.72639	.	.	ENSG00000185070	ENST00000330753;ENST00000554746	T;T	0.59224	0.28;0.28	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.63931	0.2553	N	0.20483	0.58	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.67031	-0.5773	10	0.49607	T	0.09	-14.8786	16.1031	0.81201	1.0:0.0:0.0:0.0	.	234	O43155	FLRT2_HUMAN	V	234	ENSP00000332879:E234V;ENSP00000451050:E234V	ENSP00000332879:E234V	E	+	2	0	FLRT2	85158312	1.000000	0.71417	0.992000	0.48379	0.973000	0.67179	7.186000	0.77722	2.197000	0.70478	0.528000	0.53228	GAA		0.512	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1			47	65	0	0	0	1	0	47	65				
YTHDF2	51441	broad.mit.edu	37	1	29069499	29069499	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr1:29069499G>A	ENST00000373812.3	+	4	1079	c.717G>A	c.(715-717)tgG>tgA	p.W239*	YTHDF2_ENST00000541996.1_Nonsense_Mutation_p.W189*|YTHDF2_ENST00000542507.1_Nonsense_Mutation_p.W239*|YTHDF2_ENST00000478283.1_3'UTR	NM_016258.2	NP_057342.2	Q9Y5A9	YTHD2_HUMAN	YTH domain family, member 2	239	Localization to mRNA processing bodies (P-bodies).				humoral immune response (GO:0006959)|regulation of mRNA stability (GO:0043488)	cytoplasmic mRNA processing body (GO:0000932)	N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		CAGCATCTTGGGCTGATATTG	0.488																																						ENST00000373812.3																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(715-717)tgG>tgA		YTH domain family, member 2							113.0	111.0	112.0					1																	29069499		1936	4139	6075	SO:0001587	stop_gained	51441				humoral immune response			g.chr1:29069499G>A	AF155095	CCDS41296.1, CCDS53287.1	1p35	2008-02-05	2004-11-16		ENSG00000198492	ENSG00000198492			31675	protein-coding gene	gene with protein product		610640	"""YTH domain family 2"""			10508479	Standard	NM_016258		Approved	HGRG8, NY-REN-2	uc021okf.1	Q9Y5A9	OTTHUMG00000003648	ENST00000373812.3:c.717G>A	1.37:g.29069499G>A	ENSP00000362918:p.Trp239*					YTHDF2_ENST00000542507.1_Nonsense_Mutation_p.W239*|YTHDF2_ENST00000541996.1_Nonsense_Mutation_p.W189*|YTHDF2_ENST00000478283.1_3'UTR	p.W239*	NM_016258.2	NP_057342.2	Q9Y5A9	YTHD2_HUMAN		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)	4	1079	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	239					A6NKG4|A8K966|B4E1G7|D3DPM8|Q5VSZ9|Q8TDH0|Q9BUJ5	Nonsense_Mutation	SNP	ENST00000373812.3	37	c.717G>A	CCDS41296.1	.	.	.	.	.	.	.	.	.	.	G	34	5.361215	0.95877	.	.	ENSG00000198492	ENST00000542507;ENST00000373812;ENST00000541996;ENST00000396232	.	.	.	5.04	4.13	0.48395	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.7477	0.57289	0.0809:0.0:0.9191:0.0	.	.	.	.	X	239;239;189;239	.	.	W	+	3	0	YTHDF2	28942086	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.502000	0.97981	1.503000	0.48686	0.650000	0.86243	TGG		0.488	YTHDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010335.1	NM_016258		51	103	0	0	0	1	0	51	103				
DHX57	90957	broad.mit.edu	37	2	39090566	39090566	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr2:39090566T>A	ENST00000295373.6	-	3	446	c.320A>T	c.(319-321)aAt>aTt	p.N107I	DHX57_ENST00000479345.2_5'UTR|AC018693.6_ENST00000442829.1_RNA	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	107							ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				TTTCTCTTGATTCTCAGAAGT	0.393																																					Melanoma(191;1090 2095 4375 23729 47341)	ENST00000295373.6																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(319-321)aAt>aTt		DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57							184.0	178.0	180.0					2																	39090566		2203	4300	6503	SO:0001583	missense	90957						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr2:39090566T>A	AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"""DEAH-boxes"""	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.320A>T	2.37:g.39090566T>A	ENSP00000295373:p.Asn107Ile					DHX57_ENST00000479345.2_5'UTR	p.N107I	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN			3	446	-		all_hematologic(82;0.248)	107					A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Missense_Mutation	SNP	ENST00000295373.6	37	c.320A>T	CCDS1800.1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.669308	0.88348	.	.	ENSG00000163214	ENST00000295373;ENST00000355320;ENST00000417233	T	0.03152	4.03	5.68	5.68	0.88126	.	0.000000	0.64402	D	0.000013	T	0.11537	0.0281	L	0.32530	0.975	0.58432	D	0.999999	D;D	0.76494	0.999;0.995	D;P	0.76071	0.987;0.873	T	0.03503	-1.1030	10	0.62326	D	0.03	.	15.9133	0.79488	0.0:0.0:0.0:1.0	.	107;107	Q6P158-2;Q6P158	.;DHX57_HUMAN	I	107;5;5	ENSP00000295373:N107I	ENSP00000295373:N107I	N	-	2	0	DHX57	38944070	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.996000	0.76263	2.156000	0.67533	0.459000	0.35465	AAT		0.393	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	NM_145646		44	52	0	0	0	1	0	44	52				
ALDH6A1	4329	broad.mit.edu	37	14	74539000	74539000	+	Missense_Mutation	SNP	G	G	A	rs560772628		TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr14:74539000G>A	ENST00000553458.1	-	4	352	c.254C>T	c.(253-255)tCc>tTc	p.S85F	ALDH6A1_ENST00000556852.1_5'UTR|CCDC176_ENST00000553773.1_Intron|ALDH6A1_ENST00000350259.4_Missense_Mutation_p.S85F|AC005484.5_ENST00000492026.1_RNA	NM_001278593.1|NM_005589.2	NP_001265522.1|NP_005580.1	Q02252	MMSA_HUMAN	aldehyde dehydrogenase 6 family, member A1	85					branched-chain amino acid catabolic process (GO:0009083)|brown fat cell differentiation (GO:0050873)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|thymine metabolic process (GO:0019859)|valine catabolic process (GO:0006574)|valine metabolic process (GO:0006573)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	fatty-acyl-CoA binding (GO:0000062)|malonate-semialdehyde dehydrogenase (acetylating) activity (GO:0018478)|methylmalonate-semialdehyde dehydrogenase (acylating) activity (GO:0004491)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21				BRCA - Breast invasive adenocarcinoma(234;0.00354)		ACGTTTGCAGGAAGCAATGGC	0.483													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21955	0.0		0.0	False		,,,				2504	0.0					ENST00000553458.1																			0				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21						c.(253-255)tCc>tTc		aldehyde dehydrogenase 6 family, member A1	NADH(DB00157)						79.0	70.0	73.0					14																	74539000		2203	4300	6503	SO:0001583	missense	4329					mitochondrial matrix|nucleus	fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity	g.chr14:74539000G>A	M93405	CCDS9826.1, CCDS61501.1	14q24.3	2014-02-03			ENSG00000119711	ENSG00000119711	1.2.1.27	"""Aldehyde dehydrogenases"""	7179	protein-coding gene	gene with protein product		603178		MMSDH		1527093	Standard	NM_005589		Approved		uc001xpo.3	Q02252	OTTHUMG00000171203	ENST00000553458.1:c.254C>T	14.37:g.74539000G>A	ENSP00000450436:p.Ser85Phe					CCDC176_ENST00000553773.1_Intron|AC005484.5_ENST00000492026.1_RNA|ALDH6A1_ENST00000350259.4_Missense_Mutation_p.S85F|ALDH6A1_ENST00000556852.1_5'UTR	p.S85F	NM_001278593.1|NM_005589.2	NP_001265522.1|NP_005580.1	Q02252	MMSA_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00354)	4	352	-			85					B2R609|B4DFS8|J3KNU8|Q9UKM8	Missense_Mutation	SNP	ENST00000553458.1	37	c.254C>T	CCDS9826.1	.	.	.	.	.	.	.	.	.	.	G	34	5.316285	0.95655	.	.	ENSG00000119711	ENST00000553458;ENST00000350259	T;T	0.77358	-1.09;-1.09	5.28	5.28	0.74379	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.115607	0.64402	D	0.000008	D	0.90566	0.7043	M	0.91038	3.17	0.80722	D	1	P;D	0.61080	0.917;0.989	D;D	0.69307	0.941;0.963	D	0.92109	0.5694	10	0.72032	D	0.01	.	19.1054	0.93293	0.0:0.0:1.0:0.0	.	85;85	B4DFS8;Q02252	.;MMSA_HUMAN	F	85	ENSP00000450436:S85F;ENSP00000342564:S85F	ENSP00000342564:S85F	S	-	2	0	ALDH6A1	73608753	1.000000	0.71417	0.977000	0.42913	0.990000	0.78478	9.657000	0.98554	2.744000	0.94065	0.655000	0.94253	TCC		0.483	ALDH6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412309.1			19	22	0	0	0	1	0	19	22				
MROH8	140699	broad.mit.edu	37	20	35748155	35748155	+	Silent	SNP	G	G	C			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr20:35748155G>C	ENST00000400441.3	-	18	2315	c.2316C>G	c.(2314-2316)ctC>ctG	p.L772L	MROH8_ENST00000441008.2_Silent_p.L758L|MROH8_ENST00000217333.8_Silent_p.L601L			Q9H579	MROH8_HUMAN	maestro heat-like repeat family member 8	341																	GAATTCTAAAGAGATGATTTC	0.488																																						ENST00000400441.3																			0											c.(2314-2316)ctC>ctG		maestro heat-like repeat family member 8							61.0	64.0	63.0					20																	35748155		1902	4116	6018	SO:0001819	synonymous_variant	140699							g.chr20:35748155G>C	AL136172		20q11.22	2012-12-19	2012-12-19	2012-12-19	ENSG00000101353	ENSG00000101353		"""maestro heat-like repeat containing"""	16125	protein-coding gene	gene with protein product	"""hypothetical protein LOC140699"""		"""chromosome 20 open reading frame 131"", ""chromosome 20 open reading frame 132"""	C20orf131, C20orf132		11780052, 15635413	Standard	NM_152503		Approved	dJ621N11.4, dJ621N11.3	uc010zvu.2	Q9H579	OTTHUMG00000032407	ENST00000400441.3:c.2316C>G	20.37:g.35748155G>C						MROH8_ENST00000441008.2_Silent_p.L758L|MROH8_ENST00000217333.8_Silent_p.L601L	p.L772L							18	2315	-								Q5JYQ6	Silent	SNP	ENST00000400441.3	37	c.2316C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.801|1.801	-0.477132|-0.477132	0.04414|0.04414	.|.	.|.	ENSG00000101353|ENSG00000101353	ENST00000417458|ENST00000343811	T|.	0.65178|.	-0.14|.	5.27|5.27	1.9|1.9	0.25705|0.25705	.|.	1.212750|.	0.05672|.	N|.	0.588837|.	T|T	0.25419|0.25419	0.0618|0.0618	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999996|0.999996	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.20207|0.20207	-1.0282|-1.0282	7|4	0.27082|.	T|.	0.32|.	0.0369|0.0369	5.0144|5.0144	0.14328|0.14328	0.2018:0.0:0.6355:0.1627|0.2018:0.0:0.6355:0.1627	.|.	.|.	.|.	.|.	V|C	400|799	ENSP00000415930:L400V|.	ENSP00000415930:L400V|.	L|S	-|-	1|2	0|0	C20orf132|C20orf132	35181569|35181569	0.456000|0.456000	0.25744|0.25744	0.034000|0.034000	0.17996|0.17996	0.020000|0.020000	0.10135|0.10135	0.295000|0.295000	0.19065|0.19065	0.648000|0.648000	0.30732|0.30732	-0.355000|-0.355000	0.07637|0.07637	CTT|TCT		0.488	MROH8-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_152503		14	61	0	0	0	1	0	14	61				
KDM6A	7403	broad.mit.edu	37	X	44918553	44918553	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chrX:44918553C>T	ENST00000377967.4	+	12	1077	c.1036C>T	c.(1036-1038)Caa>Taa	p.Q346*	KDM6A_ENST00000536777.1_Nonsense_Mutation_p.Q346*|KDM6A_ENST00000382899.4_Nonsense_Mutation_p.Q346*|KDM6A_ENST00000543216.1_Nonsense_Mutation_p.Q346*	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	346	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)|p.0(2)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TTGTGCTGTACAATTGGACCA	0.433			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	ENST00000377967.4				Rec	yes		X	Xp11.2	7403	"""D, N, F, S"""	"""lysine (K)-specific demethylase 6A, UTX"""			"""E, L"""			"""renal, oesophageal SCC, MM"""		8	Whole gene deletion(6)|No detectable mRNA/protein(2)	p.0?(6)|p.0(2)	haematopoietic_and_lymphoid_tissue(2)|oesophagus(2)|breast(2)|pancreas(2)	NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						c.(1036-1038)Caa>Taa		lysine (K)-specific demethylase 6A							92.0	73.0	79.0					X																	44918553		2203	4300	6503	SO:0001587	stop_gained	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44918553C>T	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.1036C>T	X.37:g.44918553C>T	ENSP00000367203:p.Gln346*					KDM6A_ENST00000543216.1_Nonsense_Mutation_p.Q346*|KDM6A_ENST00000382899.4_Nonsense_Mutation_p.Q346*|KDM6A_ENST00000536777.1_Nonsense_Mutation_p.Q346*	p.Q346*	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN			12	1077	+			346					Q52LL9|Q5JVQ7	Nonsense_Mutation	SNP	ENST00000377967.4	37	c.1036C>T	CCDS14265.1	.	.	.	.	.	.	.	.	.	.	C	37	6.205106	0.97376	.	.	ENSG00000147050	ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216	.	.	.	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-9.7416	18.6299	0.91357	0.0:1.0:0.0:0.0	.	.	.	.	X	346	.	ENSP00000367203:Q346X	Q	+	1	0	KDM6A	44803497	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.343000	0.79666	0.513000	0.50165	CAA		0.433	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140		24	10	0	0	0	1	0	24	10				
CATSPERB	79820	broad.mit.edu	37	14	92058278	92058278	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr14:92058278C>G	ENST00000256343.3	-	23	2934	c.2778G>C	c.(2776-2778)caG>caC	p.Q926H		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	926					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|cilium (GO:0005929)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				GTGAAAACTTCTGATCCTTTG	0.363																																						ENST00000256343.3																			0				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54						c.(2776-2778)caG>caC		catsper channel auxiliary subunit beta							164.0	161.0	162.0					14																	92058278		2203	4300	6503	SO:0001583	missense	79820				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr14:92058278C>G	AK024360	CCDS32142.1	14q32.12	2012-02-22	2012-02-22	2007-10-18	ENSG00000133962	ENSG00000133962			20500	protein-coding gene	gene with protein product		611169	"""chromosome 14 open reading frame 161"", ""cation channel, sperm-associated, beta"""	C14orf161		17478420	Standard	NM_024764		Approved	FLJ14298	uc001xzs.1	Q9H7T0	OTTHUMG00000171118	ENST00000256343.3:c.2778G>C	14.37:g.92058278C>G	ENSP00000256343:p.Gln926His						p.Q926H	NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN			23	2934	-		all_cancers(154;0.0663)|all_epithelial(191;0.236)	926					A0AV51	Missense_Mutation	SNP	ENST00000256343.3	37	c.2778G>C	CCDS32142.1	.	.	.	.	.	.	.	.	.	.	C	11.64	1.699981	0.30142	.	.	ENSG00000133962	ENST00000256343	T	0.45276	0.9	5.27	2.98	0.34508	.	0.138006	0.33180	N	0.005190	T	0.35711	0.0941	L	0.61218	1.895	0.22354	N	0.999176	B	0.22683	0.073	B	0.25884	0.064	T	0.28106	-1.0054	10	0.33940	T	0.23	-12.8847	5.2584	0.15559	0.0:0.6639:0.1878:0.1483	.	926	Q9H7T0	CTSRB_HUMAN	H	926	ENSP00000256343:Q926H	ENSP00000256343:Q926H	Q	-	3	2	CATSPERB	91128031	1.000000	0.71417	0.241000	0.24154	0.687000	0.40016	0.826000	0.27407	0.345000	0.23873	0.467000	0.42956	CAG		0.363	CATSPERB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411769.1	NM_024764		23	71	0	0	0	1	0	23	71				
SLC2A4	6517	broad.mit.edu	37	17	7189832	7189832	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr17:7189832C>T	ENST00000317370.8	+	11	1682	c.1414C>T	c.(1414-1416)Cga>Tga	p.R472*	RP1-4G17.2_ENST00000576271.1_RNA	NM_001042.2	NP_001033.1	P14672	GTR4_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 4	472					amylopectin biosynthetic process (GO:0010021)|brown fat cell differentiation (GO:0050873)|carbohydrate metabolic process (GO:0005975)|cellular response to insulin stimulus (GO:0032869)|cellular response to osmotic stress (GO:0071470)|glucose homeostasis (GO:0042593)|glucose import (GO:0046323)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|membrane organization (GO:0061024)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|endomembrane system (GO:0012505)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|insulin-responsive compartment (GO:0032593)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|multivesicular body (GO:0005771)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|trans-Golgi network transport vesicle (GO:0030140)|vesicle membrane (GO:0012506)	D-glucose transmembrane transporter activity (GO:0055056)|glucose transmembrane transporter activity (GO:0005355)			breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						ACCTGAAACTCGAGGCCGGAC	0.542																																						ENST00000317370.8																			0				breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						c.(1414-1416)Cga>Tga		solute carrier family 2 (facilitated glucose transporter), member 4							281.0	282.0	282.0					17																	7189832		2203	4300	6503	SO:0001587	stop_gained	6517				carbohydrate metabolic process|glucose homeostasis|glucose import	external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm	D-glucose transmembrane transporter activity|protein binding	g.chr17:7189832C>T	M20747	CCDS11097.1	17p13	2013-05-22			ENSG00000181856	ENSG00000181856		"""Solute carriers"""	11009	protein-coding gene	gene with protein product		138190		GLUT4			Standard	NM_001042		Approved		uc002gfp.3	P14672	OTTHUMG00000102181	ENST00000317370.8:c.1414C>T	17.37:g.7189832C>T	ENSP00000320935:p.Arg472*						p.R472*	NM_001042.2	NP_001033.1	P14672	GTR4_HUMAN			11	1682	+			472					Q05BQ3|Q14CX2	Nonsense_Mutation	SNP	ENST00000317370.8	37	c.1414C>T	CCDS11097.1	.	.	.	.	.	.	.	.	.	.	C	38	6.984151	0.97983	.	.	ENSG00000181856	ENST00000317370	.	.	.	5.11	1.82	0.25136	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	12.2271	0.54465	0.616:0.384:0.0:0.0	.	.	.	.	X	472	.	ENSP00000320935:R472X	R	+	1	2	SLC2A4	7130556	0.407000	0.25352	0.999000	0.59377	0.994000	0.84299	0.943000	0.29030	0.341000	0.23771	0.655000	0.94253	CGA		0.542	SLC2A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220031.3			69	296	0	0	0	1	0	69	296				
MUC2	4583	broad.mit.edu	37	11	1093644	1093644	+	Silent	SNP	G	G	A			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr11:1093644G>A	ENST00000441003.2	+	30	5490	c.5463G>A	c.(5461-5463)acG>acA	p.T1821T	MUC2_ENST00000361558.6_Intron|MUC2_ENST00000333592.6_Silent_p.T109T|MUC2_ENST00000359061.5_Silent_p.T1777T	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CCACCACTACGGTGACCCCAA	0.612																																						ENST00000359061.5																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102						c.(5329-5331)acG>acA		mucin 2, oligomeric mucus/gel-forming	Pranlukast(DB01411)						129.0	170.0	156.0					11																	1093644		2181	4253	6434	SO:0001819	synonymous_variant	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1093644G>A	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.5463G>A	11.37:g.1093644G>A						MUC2_ENST00000361558.6_Intron|MUC2_ENST00000333592.6_Silent_p.T109T|MUC2_ENST00000441003.2_Silent_p.T1821T	p.1777_1777insT			Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	32	5331	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	0					Q14878	Missense_Mutation	SNP	ENST00000441003.2	37	c.5331G>A																																																																																					0.612	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		45	76	0	0	0	1	0	45	76				
DCHS1	8642	broad.mit.edu	37	11	6648162	6648162	+	Silent	SNP	G	G	C			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr11:6648162G>C	ENST00000299441.3	-	14	6519	c.6108C>G	c.(6106-6108)ctC>ctG	p.L2036L		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2036	Cadherin 19. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCACAATGAAGAGGACACGAT	0.607																																						ENST00000299441.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103						c.(6106-6108)ctC>ctG		dachsous cadherin-related 1							38.0	38.0	38.0					11																	6648162		2201	4296	6497	SO:0001819	synonymous_variant	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6648162G>C	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.6108C>G	11.37:g.6648162G>C							p.L2036L	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	14	6519	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	2036			Cadherin 19.		O15098	Silent	SNP	ENST00000299441.3	37	c.6108C>G	CCDS7771.1																																																																																				0.607	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		10	34	0	0	0	1	0	10	34				
HSPA1L	3305	broad.mit.edu	37	6	31778361	31778361	+	Silent	SNP	C	C	T			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr6:31778361C>T	ENST00000375654.4	-	2	1578	c.1389G>A	c.(1387-1389)ctG>ctA	p.L463L	HSPA1L_ENST00000417199.3_Silent_p.L463L	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	463					binding of sperm to zona pellucida (GO:0007339)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						GGATTCCAGTCAGGTCAAACC	0.552																																						ENST00000375654.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						c.(1387-1389)ctG>ctA		heat shock 70kDa protein 1-like							121.0	115.0	117.0					6																	31778361		2203	4300	6503	SO:0001819	synonymous_variant	3305				response to unfolded protein		ATP binding	g.chr6:31778361C>T	D85730	CCDS34413.1	6p21.3	2014-01-21	2002-08-29		ENSG00000204390	ENSG00000204390		"""Heat shock proteins / HSP70"""	5234	protein-coding gene	gene with protein product		140559	"""heat shock 70kD protein-like 1"""			9685725, 9349405	Standard	NM_005527		Approved	HSP70-HOM, hum70t	uc003nxh.3	P34931	OTTHUMG00000031208	ENST00000375654.4:c.1389G>A	6.37:g.31778361C>T						HSPA1L_ENST00000417199.3_Silent_p.L463L	p.L463L	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN			2	1578	-			463					A6NNB0|B0UXW8|O75634|Q2HXR3|Q8NE72|Q96QC9|Q9UQM1	Silent	SNP	ENST00000375654.4	37	c.1389G>A	CCDS34413.1																																																																																				0.552	HSPA1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076416.2			40	76	0	0	0	1	0	40	76				
MAST2	23139	broad.mit.edu	37	1	46494559	46494559	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr1:46494559delT	ENST00000361297.2	+	18	2455	c.2172delT	c.(2170-2172)cctfs	p.P724fs	MAST2_ENST00000372009.2_Frame_Shift_Del_p.P654fs	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2											breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					GCTGCGTCCCTTTTTTTGGAG	0.552																																						ENST00000361297.2																			0				breast(1)|lung(3)|ovary(5)|stomach(2)	11						c.(2170-2172)ccfs		microtubule associated serine/threonine kinase 2							200.0	200.0	200.0					1																	46494559		1992	4175	6167	SO:0001589	frameshift_variant	23139				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity	g.chr1:46494559delT	AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.2172delT	1.37:g.46494559delT	ENSP00000354671:p.Pro724fs					MAST2_ENST00000372008.1_Frame_Shift_Del_p.P609fs|MAST2_ENST00000372009.2_Frame_Shift_Del_p.P654fs	p.P724fs	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN			18	2455	+	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)		724			Protein kinase.			Frame_Shift_Del	DEL	ENST00000361297.2	37	c.2172delT	CCDS41326.1																																																																																				0.552	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021977.1	NM_015112		7	491						7	491	---	---	---	---
NUP133	55746	broad.mit.edu	37	1	229606349	229606349	+	Missense_Mutation	SNP	G	G	A	rs372894578		TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr1:229606349G>A	ENST00000261396.3	-	15	2145	c.2054C>T	c.(2053-2055)cCt>cTt	p.P685L	NUP133_ENST00000537506.1_Missense_Mutation_p.P669L	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	685					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 export from nucleus (GO:0006406)|nuclear pore organization (GO:0006999)|paraxial mesoderm development (GO:0048339)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				GACATCTGCAGGAGTCAGGTT	0.468																																						ENST00000261396.3																			0				NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56						c.(2053-2055)cCt>cTt		nucleoporin 133kDa							107.0	106.0	106.0					1																	229606349		2203	4300	6503	SO:0001583	missense	55746				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr1:229606349G>A		CCDS1579.1	1q42.13	2008-02-05	2002-08-29		ENSG00000069248	ENSG00000069248			18016	protein-coding gene	gene with protein product		607613	"""nucleoporin 133kD"""			11684705	Standard	NM_018230		Approved	FLJ10814	uc001htn.3	Q8WUM0	OTTHUMG00000039462	ENST00000261396.3:c.2054C>T	1.37:g.229606349G>A	ENSP00000261396:p.Pro685Leu					NUP133_ENST00000537506.1_Missense_Mutation_p.P669L|NUP133_ENST00000366679.1_Missense_Mutation_p.P685L	p.P685L	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN			15	2145	-	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)	685					B2RAZ8|Q5T8N0|Q9H9W2|Q9NV71|Q9NVC4	Missense_Mutation	SNP	ENST00000261396.3	37	c.2054C>T	CCDS1579.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.870959	0.91587	.	.	ENSG00000069248	ENST00000366681;ENST00000261396;ENST00000366679;ENST00000537506	T;T;T	0.24538	1.87;1.85;1.87	5.56	5.56	0.83823	Nucleoporin, Nup133/Nup155-like, C-terminal (1);	0.092810	0.85682	D	0.000000	T	0.45094	0.1325	M	0.69823	2.125	0.80722	D	1	D	0.61080	0.989	P	0.54544	0.755	T	0.14035	-1.0487	10	0.29301	T	0.29	-21.1128	19.8898	0.96926	0.0:0.0:1.0:0.0	.	685	Q8WUM0	NU133_HUMAN	L	685;685;685;669	ENSP00000261396:P685L;ENSP00000355640:P685L;ENSP00000443496:P669L	ENSP00000261396:P685L	P	-	2	0	NUP133	227672972	1.000000	0.71417	0.862000	0.33874	0.963000	0.63663	9.473000	0.97714	2.775000	0.95449	0.655000	0.94253	CCT		0.468	NUP133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095224.1	NM_018230		28	62	0	0	0	1	0	28	62				
LPAL2	80350	broad.mit.edu	37	6	160914198	160914198	+	RNA	DEL	T	T	-	rs398085467|rs10710535	byFrequency	TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr6:160914198delT	ENST00000335388.5	-	0	326					NR_028092.1		Q16609	LPAL2_HUMAN	lipoprotein, Lp(a)-like 2, pseudogene							extracellular region (GO:0005576)				large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		AGATTTTAACTTTTTTTTTTA	0.348													|||unknown(HR)	1551	0.309704	0.4289	0.2219	5008	,	,		22180	0.3383		0.2137	False		,,,				2504	0.2802					ENST00000335388.5																			0				large_intestine(1)|lung(4)	5																																														80350							g.chr6:160914198delT	U19517		6q26-q27	2010-10-27	2010-10-27	2004-02-18	ENSG00000213071	ENSG00000213071			21210	pseudogene	pseudogene		611682	"""apolipoprotein A-like"", ""lipoprotein, Lp(a)-like 2"""	APOAL		7749817, 7679504	Standard	NR_028092		Approved	APOARGC	uc011efy.2	Q16609	OTTHUMG00000015952		6.37:g.160914198delT								NR_028092.1					OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	0	326	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)						E1P5B4	RNA	DEL	ENST00000335388.5	37																																																																																						0.348	LPAL2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000042950.1	NM_024492		2	4						2	4	---	---	---	---
KLHL38	340359	broad.mit.edu	37	8	124664564	124664565	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr8:124664564_124664565delCA	ENST00000325995.7	-	1	625_626	c.602_603delTG	c.(601-603)atgfs	p.M201fs	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	201	BACK.									breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						TGATCCAAACCATGAGGGCCTC	0.559																																						ENST00000325995.7																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						c.(601-603)afs		kelch-like family member 38																																				SO:0001589	frameshift_variant	340359							g.chr8:124664564_124664565delCA		CCDS43766.1	8q24.13	2013-02-22	2013-02-22		ENSG00000175946	ENSG00000175946		"""Kelch-like"", ""BTB/POZ domain containing"""	34435	protein-coding gene	gene with protein product			"""kelch-like 38 (Drosophila)"""				Standard	NM_001081675		Approved	C8ORFK36	uc003yqs.1	Q2WGJ6	OTTHUMG00000164983	ENST00000325995.7:c.602_603delTG	8.37:g.124664564_124664565delCA	ENSP00000321475:p.Met201fs					CTD-2552K11.2_ENST00000524355.1_RNA	p.M201fs	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN			1	625_626	-			201			BACK.		A0PK12	Frame_Shift_Del	DEL	ENST00000325995.7	37	c.602_603delTG	CCDS43766.1																																																																																				0.559	KLHL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381288.1			35	90						35	90	---	---	---	---
TG	7038	broad.mit.edu	37	8	134024224	134024225	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr8:134024224_134024225insT	ENST00000220616.4	+	36	6381_6382	c.6341_6342insT	c.(6340-6345)catgtcfs	p.V2115fs	TG_ENST00000377869.1_Frame_Shift_Ins_p.V2058fs|TG_ENST00000519543.1_Frame_Shift_Ins_p.V248fs|TG_ENST00000542445.1_Frame_Shift_Ins_p.V485fs|TG_ENST00000522523.1_3'UTR	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2115					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GATGTTGCCCATGTCAGCACTG	0.54																																						ENST00000220616.4																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(6340-6342)cgtfs		thyroglobulin																																				SO:0001589	frameshift_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:134024224_134024225insT	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.6342dupT	8.37:g.134024225_134024225dupT	ENSP00000220616:p.Val2115fs					TG_ENST00000522523.1_3'UTR|TG_ENST00000519543.1_Frame_Shift_Ins_p.R247fs|TG_ENST00000542445.1_Frame_Shift_Ins_p.R484fs|TG_ENST00000377869.1_Frame_Shift_Ins_p.R2057fs	p.R2114fs	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	36	6381_6382	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	2114					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Frame_Shift_Ins	INS	ENST00000220616.4	37	c.6341_6342insT	CCDS34944.1																																																																																				0.540	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		571	93						571	93	---	---	---	---
CDKN2A	1029	broad.mit.edu	37	9	21971096	21971096	+	Frame_Shift_Del	DEL	C	C	-	rs121913384		TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr9:21971096delC	ENST00000304494.5	-	2	532	c.262delG	c.(262-264)gagfs	p.E88fs	CDKN2A_ENST00000479692.2_Frame_Shift_Del_p.E37fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579755.1_Frame_Shift_Del_p.G103fs|CDKN2A_ENST00000578845.2_Frame_Shift_Del_p.E37fs|CDKN2A_ENST00000498628.2_Frame_Shift_Del_p.E37fs|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.E88fs|CDKN2A_ENST00000494262.1_Frame_Shift_Del_p.E37fs|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.E88fs|CDKN2A_ENST00000530628.2_Frame_Shift_Del_p.G103fs|CDKN2A_ENST00000497750.1_Frame_Shift_Del_p.E37fs|CDKN2A_ENST00000361570.3_Frame_Shift_Del_p.G144fs|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.E88fs	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	88			E -> D (in a biliary tract tumor).		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(44)|p.E88*(15)|p.E88K(3)|p.H83fs*2(2)|p.D84_F90del(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.G143V(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.V82_E88del(1)|p.E87K(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		AGGAAGCCCTCCCGGGCAGCG	0.756	E88*(CAL33_UPPER_AERODIGESTIVE_TRACT)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000579755.1	E88*(CAL33_UPPER_AERODIGESTIVE_TRACT)	17																	1388	Whole gene deletion(1316)|Unknown(44)|Substitution - Nonsense(15)|Substitution - Missense(5)|Deletion - Frameshift(4)|Deletion - In frame(3)|Complex - deletion inframe(1)	p.0?(1315)|p.?(44)|p.E88*(15)|p.E88K(3)|p.H83fs*2(2)|p.D84_F90del(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.G143V(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.V82_E88del(1)|p.E87K(1)	haematopoietic_and_lymphoid_tissue(283)|skin(177)|central_nervous_system(167)|lung(148)|urinary_tract(91)|bone(74)|upper_aerodigestive_tract(57)|soft_tissue(57)|oesophagus(56)|pleura(51)|ovary(36)|kidney(32)|breast(32)|pancreas(30)|thyroid(13)|NS(13)|biliary_tract(12)|stomach(12)|autonomic_ganglia(9)|liver(9)|meninges(9)|large_intestine(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199	GRCh37	CM034218	CDKN2A	M	rs121913384	c.(304-306)gafs		cyclin-dependent kinase inhibitor 2A							13.0	16.0	15.0					9																	21971096		2176	4259	6435	SO:0001589	frameshift_variant	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21971096delC	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.262delG	9.37:g.21971096delC	ENSP00000307101:p.Glu88fs	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000361570.3_Frame_Shift_Del_p.G144fs|CDKN2A_ENST00000494262.1_Frame_Shift_Del_p.E37fs|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.E88fs|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.E88fs|CDKN2A_ENST00000578845.2_Frame_Shift_Del_p.E37fs|CDKN2A_ENST00000498628.2_Frame_Shift_Del_p.E37fs|CDKN2A_ENST00000479692.2_Frame_Shift_Del_p.E37fs|CDKN2A_ENST00000530628.2_Frame_Shift_Del_p.G103fs|CDKN2A_ENST00000497750.1_Frame_Shift_Del_p.E37fs|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.E88fs|CDKN2A_ENST00000304494.5_Frame_Shift_Del_p.E88fs	p.G103fs			P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	597	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	0					A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Frame_Shift_Del	DEL	ENST00000304494.5	37	c.305delG	CCDS6510.1																																																																																				0.756	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		29	15						29	15	---	---	---	---
DUSP16	80824	broad.mit.edu	37	12	12630855	12630856	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr12:12630855_12630856insT	ENST00000228862.2	-	7	1540_1541	c.909_910insA	c.(907-912)ggagcafs	p.A304fs	DUSP16_ENST00000298573.4_3'UTR|DUSP16_ENST00000545864.1_5'UTR	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	304					dephosphorylation (GO:0016311)|inactivation of MAPK activity (GO:0000188)|MAPK export from nucleus (GO:0045204)|MAPK phosphatase export from nucleus, leptomycin B sensitive (GO:0045209)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		GGCCCTGATGCTCCAGTCTGGT	0.475																																					Ovarian(158;443 1896 15437 36069 46477)	ENST00000228862.2																			0				endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26						c.(907-912)ggcatcfs		dual specificity phosphatase 16																																				SO:0001589	frameshift_variant	80824				inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr12:12630855_12630856insT	AB052156	CCDS8650.1	12p13	2011-06-09				ENSG00000111266		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	17909	protein-coding gene	gene with protein product	"""MAPK phosphatase-7"""	607175				11359773, 11489891, 15888437	Standard	NM_030640		Approved	MKP-7, KIAA1700, MKP7	uc001rao.2	Q9BY84		ENST00000228862.2:c.910dupA	12.37:g.12630856_12630856dupT	ENSP00000228862:p.Ala304fs					DUSP16_ENST00000545864.1_5'UTR|DUSP16_ENST00000298573.4_3'UTR	p.I304fs	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0203)	7	1540_1541	-		Prostate(47;0.0687)	304					Q547C7|Q96QS2|Q9C0G3	Frame_Shift_Ins	INS	ENST00000228862.2	37	c.909_910insA	CCDS8650.1																																																																																				0.475	DUSP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400311.1	NM_030640		14	93						14	93	---	---	---	---
TOX4	9878	broad.mit.edu	37	14	21960698	21960698	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr14:21960698delC	ENST00000405508.1	+	8	1199	c.923delC	c.(922-924)gcafs	p.A308fs	TOX4_ENST00000448790.2_Frame_Shift_Del_p.A285fs|TOX4_ENST00000262709.3_Frame_Shift_Del_p.A308fs			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	308						chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)			large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		TTGGATCCAGCACCACCATCA	0.453																																						ENST00000405508.1																			0				large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(922-924)gafs		TOX high mobility group box family member 4							134.0	126.0	128.0					14																	21960698		2203	4300	6503	SO:0001589	frameshift_variant	9878					chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding	g.chr14:21960698delC	AB018280	CCDS32043.1	14q11.2	2007-03-20	2007-03-20	2007-03-20	ENSG00000092203	ENSG00000092203			20161	protein-coding gene	gene with protein product		614032	"""chromosome 14 open reading frame 92"", ""KIAA0737"""	C14orf92, KIAA0737			Standard	NM_014828		Approved	LCP1	uc001waz.3	O94842	OTTHUMG00000150278	ENST00000405508.1:c.923delC	14.37:g.21960698delC	ENSP00000385102:p.Ala308fs					TOX4_ENST00000448790.2_Frame_Shift_Del_p.A285fs|TOX4_ENST00000262709.3_Frame_Shift_Del_p.A308fs	p.A308fs			O94842	TOX4_HUMAN	Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)	8	1199	+	all_cancers(95;0.000465)		308					B4DPY8|B4DSM0|E7EV69	Frame_Shift_Del	DEL	ENST00000405508.1	37	c.923delC	CCDS32043.1																																																																																				0.453	TOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317287.2	NM_014828		22	122						22	122	---	---	---	---
TGM5	9333	broad.mit.edu	37	15	43527720	43527721	+	Frame_Shift_Ins	INS	-	-	GGCT			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr15:43527720_43527721insGGCT	ENST00000220420.5	-	10	1667_1668	c.1660_1661insAGCC	c.(1660-1662)cccfs	p.-553fs	TGM5_ENST00000349114.4_Frame_Shift_Ins_p.-471fs	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5						cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	TGGGGACAGGGGGCTGCCATCG	0.53																																						ENST00000220420.5																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44						c.(1660-1662)cctfs		transglutaminase 5	L-Glutamine(DB00130)																																			SO:0001589	frameshift_variant	9333				epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr15:43527720_43527721insGGCT	AF035960	CCDS32211.1, CCDS32212.1	15q15	2004-07-07				ENSG00000104055		"""Transglutaminases"""	11781	protein-coding gene	gene with protein product		603805				9452468, 11390390	Standard	NM_201631		Approved	TGX	uc001zrd.2	O43548		ENST00000220420.5:c.1657_1660dupAGCC	15.37:g.43527721_43527724dupGGCT	ENSP00000220420:p.Ser553fs					TGM5_ENST00000349114.4_Frame_Shift_Ins_p.-471fs	p.-553fs	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN		GBM - Glioblastoma multiforme(94;4e-07)	10	1667_1668	-		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)						O43549|Q0VF40|Q9UEZ4	Frame_Shift_Ins	INS	ENST00000220420.5	37	c.1660_1661insAGCC	CCDS32212.1																																																																																				0.530	TGM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432257.1	NM_004245		18	47						18	47	---	---	---	---
RPL3	6122	broad.mit.edu	37	22	39710765	39710766	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr22:39710765_39710766insA	ENST00000216146.4	-	6	947_948	c.774_775insT	c.(772-777)catcctfs	p.P259fs	RPL3_ENST00000401609.1_Frame_Shift_Ins_p.P207fs|RPL3_ENST00000465618.1_5'UTR|SNORD83B_ENST00000386745.1_RNA|SNORD83A_ENST00000386747.1_RNA	NM_000967.3|NM_001033853.1	NP_000958.1|NP_001029025.1	P39023	RL3_HUMAN	ribosomal protein L3	259					cellular protein metabolic process (GO:0044267)|cellular response to interleukin-4 (GO:0071353)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|kidney(4)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Melanoma(58;0.04)				Homoharringtonine(DB04865)	ACACGAGCAGGATGCCATGCCC	0.599																																						ENST00000216146.4																			0				breast(1)|kidney(4)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(772-777)cactgcfs		ribosomal protein L3																																				SO:0001589	frameshift_variant	6122				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome	g.chr22:39710765_39710766insA	AB007166	CCDS13988.1	22q13	2011-04-06			ENSG00000100316	ENSG00000100316		"""L ribosomal proteins"""	10332	protein-coding gene	gene with protein product		604163				2891103, 9582194	Standard	NM_000967		Approved	L3	uc003axi.3	P39023	OTTHUMG00000151079	ENST00000216146.4:c.775dupT	22.37:g.39710766_39710766dupA	ENSP00000346001:p.Pro259fs					RPL3_ENST00000401609.1_Frame_Shift_Ins_p.C207fs|RPL3_ENST00000465618.1_5'UTR	p.C259fs	NM_000967.3|NM_001033853.1	NP_000958.1|NP_001029025.1	P39023	RL3_HUMAN			6	947_948	-	Melanoma(58;0.04)		259					B2RDV9|Q15548|Q5I0G0	Frame_Shift_Ins	INS	ENST00000216146.4	37	c.774_775insT	CCDS13988.1																																																																																				0.599	RPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321196.1	NM_000967		10	74						10	74	---	---	---	---
