#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
KDM1A	23028	broad.mit.edu	37	1	23381588	23381589	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr1:23381588_23381589delCA	ENST00000356634.3	+	5	906_907	c.757_758delCA	c.(757-759)cacfs	p.H253fs	KDM1A_ENST00000400181.4_Frame_Shift_Del_p.H273fs|RP1-184J9.2_ENST00000427154.1_RNA|MIR4419A_ENST00000583845.1_RNA|KDM1A_ENST00000542151.1_Frame_Shift_Del_p.H273fs	NM_015013.3	NP_055828.2	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	253	SWIRM. {ECO:0000255|PROSITE- ProRule:PRU00247}.				blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|histone H3-K4 demethylation (GO:0034720)|histone H3-K9 demethylation (GO:0033169)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of DNA binding (GO:0043392)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of protein binding (GO:0032091)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pituitary gland development (GO:0021983)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein demethylation (GO:0006482)|regulation of primitive erythrocyte differentiation (GO:0010725)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|demethylase activity (GO:0032451)|enzyme binding (GO:0019899)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-K4 specific) (GO:0032453)|histone demethylase activity (H3-K9 specific) (GO:0032454)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|MRF binding (GO:0043426)|oxidoreductase activity (GO:0016491)|p53 binding (GO:0002039)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						CCACCGAGTTCACAGTTATTTA	0.371																																						uc001bgi.2																			0				ovary(1)|lung(1)	2						c.(757-759)CACfs		lysine-specific histone demethylase 1 isoform b																																				SO:0001589	frameshift_variant	23028				blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding	g.chr1:23381588_23381589delCA	AL031428	CCDS30627.1, CCDS53278.1	1p36.12	2011-07-01	2009-09-29	2009-09-29	ENSG00000004487	ENSG00000004487		"""Chromatin-modifying enzymes / K-demethylases"""	29079	protein-coding gene	gene with protein product		609132	"""amine oxidase (flavin containing) domain 2"", ""lysine (K)-specific demethylase 1"""	AOF2, KDM1		9628581, 12493763	Standard	NM_015013		Approved	KIAA0601, BHC110, LSD1	uc001bgj.2	O60341	OTTHUMG00000003220	ENST00000356634.3:c.757_758delCA	1.37:g.23381590_23381591delCA	ENSP00000349049:p.His253fs					KDM1A_uc001bgj.2_Frame_Shift_Del_p.H273fs	p.H253fs	NM_015013	NP_055828	O60341	KDM1A_HUMAN			5	906_907	+			253			SWIRM.		A8MWP9|Q5TH94|Q5TH95|Q86VT7|Q8IXK4|Q8NDP6|Q8TAZ3|Q96AW4	Frame_Shift_Del	DEL	ENST00000356634.3	37	c.757_758delCA	CCDS30627.1																																																																																				0.371	KDM1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008880.3	NM_015013	
TARS2	80222	broad.mit.edu	37	1	150471051	150471051	+	Missense_Mutation	SNP	C	C	T	rs201039460		TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr1:150471051C>T	ENST00000369064.3	+	11	1346	c.1312C>T	c.(1312-1314)Cgg>Tgg	p.R438W	TARS2_ENST00000369054.2_Missense_Mutation_p.R308W|TARS2_ENST00000463555.1_3'UTR|TARS2_ENST00000438568.2_3'UTR|TARS2_ENST00000606933.1_Missense_Mutation_p.R356W	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	438					gene expression (GO:0010467)|mitochondrial threonyl-tRNA aminoacylation (GO:0070159)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	GGCTCTACACCGGGCCGAAGC	0.632													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16532	0.0		0.0	False		,,,				2504	0.0					uc001euq.2																			0				ovary(1)	1						c.(1312-1314)CGG>TGG		threonyl-tRNA synthetase 2, mitochondrial	L-Threonine(DB00156)	C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	53.0	55.0	55.0		1312	4.2	1.0	1		55	0,8600		0,0,4300	no	missense	TARS2	NM_025150.3	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	438/719	150471051	1,13005	2203	4300	6503	SO:0001583	missense	80222				threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity	g.chr1:150471051C>T	BC007824	CCDS952.1, CCDS60251.1, CCDS60252.1	1q21.2	2012-10-26	2007-02-23	2007-02-23	ENSG00000143374	ENSG00000143374	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	30740	protein-coding gene	gene with protein product	"""threonine tRNA ligase 2, mitochondrial"""	612805	"""threonyl-tRNA synthetase-like 1"""	TARSL1			Standard	NM_001271895		Approved	FLJ12528	uc001euq.4	Q9BW92	OTTHUMG00000012809	ENST00000369064.3:c.1312C>T	1.37:g.150471051C>T	ENSP00000358060:p.Arg438Trp					TARS2_uc010pcd.1_RNA|TARS2_uc001eur.2_Missense_Mutation_p.R356W|TARS2_uc009wlt.2_Missense_Mutation_p.R64W|TARS2_uc009wls.2_Missense_Mutation_p.R308W	p.R438W	NM_025150	NP_079426	Q9BW92	SYTM_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		11	1319	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		438					Q53GW7|Q96I50|Q9H9V2	Missense_Mutation	SNP	ENST00000369064.3	37	c.1312C>T	CCDS952.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	19.19	3.780322	0.70222	2.27E-4	0.0	ENSG00000143374	ENST00000369054;ENST00000369064;ENST00000369051;ENST00000369052	D;D;D	0.96856	-4.15;-4.15;-4.15	5.11	4.18	0.49190	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.000000	0.64402	D	0.000001	D	0.98686	0.9559	H	0.98351	4.21	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	D	0.99087	1.0839	10	0.87932	D	0	-14.9384	11.6676	0.51383	0.3541:0.6459:0.0:0.0	.	308;163;438	Q9H9V2;E7EVR9;Q9BW92	.;.;SYTM_HUMAN	W	308;438;163;163	ENSP00000358050:R308W;ENSP00000358060:R438W;ENSP00000358047:R163W	ENSP00000358047:R163W	R	+	1	2	TARS2	148737675	1.000000	0.71417	0.997000	0.53966	0.459000	0.32528	4.400000	0.59709	1.303000	0.44873	0.561000	0.74099	CGG		0.632	TARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035847.1	NM_025150	
TRIM11	81559	broad.mit.edu	37	1	228582635	228582635	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr1:228582635G>A	ENST00000284551.6	-	6	1456	c.1178C>T	c.(1177-1179)gCc>gTc	p.A393V	TRIM11_ENST00000460651.1_5'UTR|TRIM11_ENST00000493030.2_Missense_Mutation_p.A268V|RP11-245P10.8_ENST00000602963.1_RNA	NM_145214.2	NP_660215.1	Q96F44	TRI11_HUMAN	tripartite motif containing 11	393	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of neurogenesis (GO:0050768)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of viral entry into host cell (GO:0046598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	18		Prostate(94;0.0724)				TGGAGCCAAGGCCCGTTCCGA	0.597																																						uc001hss.2																			0				lung(3)|ovary(1)	4						c.(1177-1179)GCC>GTC		tripartite motif-containing 11							82.0	89.0	87.0					1																	228582635		2203	4300	6503	SO:0001583	missense	81559				response to virus	cytoplasm|nucleus	protein binding|zinc ion binding	g.chr1:228582635G>A	AF220125	CCDS31048.1	1q42.13	2013-01-09	2011-01-25		ENSG00000154370	ENSG00000154370		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16281	protein-coding gene	gene with protein product		607868	"""tripartite motif-containing 11"""			11331580	Standard	NM_145214		Approved	RNF92, BIA1	uc001hss.3	Q96F44	OTTHUMG00000039773	ENST00000284551.6:c.1178C>T	1.37:g.228582635G>A	ENSP00000284551:p.Ala393Val					TRIM11_uc010pvx.1_Missense_Mutation_p.A392V	p.A393V	NM_145214	NP_660215	Q96F44	TRI11_HUMAN			6	1433	-		Prostate(94;0.0724)	393			B30.2/SPRY.		A6NKE2|B2RB82|B3KUS3|B4DX88|Q5VSU1|Q8NCA6|Q9C022	Missense_Mutation	SNP	ENST00000284551.6	37	c.1178C>T	CCDS31048.1	.	.	.	.	.	.	.	.	.	.	G	12.79	2.044142	0.36085	.	.	ENSG00000154370	ENST00000284551	T	0.68181	-0.31	4.76	4.76	0.60689	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.137928	0.33591	N	0.004742	T	0.51007	0.1649	N	0.14661	0.345	0.80722	D	1	B;B	0.26672	0.156;0.001	B;B	0.30572	0.117;0.02	T	0.47522	-0.9111	10	0.22109	T	0.4	.	15.6526	0.77110	0.0:0.0:1.0:0.0	.	392;393	Q96F44-3;Q96F44	.;TRI11_HUMAN	V	393	ENSP00000284551:A393V	ENSP00000284551:A393V	A	-	2	0	TRIM11	226649258	0.084000	0.21492	0.525000	0.27900	0.009000	0.06853	2.012000	0.40932	2.370000	0.80446	0.609000	0.83330	GCC		0.597	TRIM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095995.3	NM_145214	
COG2	22796	broad.mit.edu	37	1	230820980	230820980	+	Missense_Mutation	SNP	G	G	C			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr1:230820980G>C	ENST00000366669.4	+	12	1493	c.1378G>C	c.(1378-1380)Gag>Cag	p.E460Q	COG2_ENST00000546013.1_Missense_Mutation_p.E149Q|COG2_ENST00000366668.3_Missense_Mutation_p.E460Q|COG2_ENST00000534989.1_Missense_Mutation_p.E401Q|COG2_ENST00000535166.1_Missense_Mutation_p.E344Q	NM_001145036.1|NM_007357.2	NP_001138508.1|NP_031383.1	Q14746	COG2_HUMAN	component of oligomeric golgi complex 2	460					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	cytosol (GO:0005829)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|Golgi transport complex (GO:0017119)	protein transporter activity (GO:0008565)			NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				GTTTGTCAATGAGGTAAGGGC	0.423																																						uc001htw.2																			0					0						c.(1378-1380)GAG>CAG		component of oligomeric golgi complex 2 isoform							180.0	166.0	171.0					1																	230820980		2203	4300	6503	SO:0001583	missense	22796				Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity	g.chr1:230820980G>C	Z34975	CCDS1584.1, CCDS44329.1	1q42.2	2008-02-05	2002-05-28	2002-05-31	ENSG00000135775	ENSG00000135775		"""Components of oligomeric golgi complex"""	6546	protein-coding gene	gene with protein product		606974	"""low density lipoprotein receptor defect C complementing"""	LDLC		7962052	Standard	NM_007357		Approved		uc001htw.3	Q14746	OTTHUMG00000037753	ENST00000366669.4:c.1378G>C	1.37:g.230820980G>C	ENSP00000355629:p.Glu460Gln					COG2_uc001htx.2_Missense_Mutation_p.E460Q|COG2_uc010pwc.1_Missense_Mutation_p.E333Q	p.E460Q	NM_007357	NP_031383	Q14746	COG2_HUMAN			12	1529	+	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)	460					Q86U99	Missense_Mutation	SNP	ENST00000366669.4	37	c.1378G>C	CCDS1584.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.245393	0.39697	.	.	ENSG00000135775	ENST00000366669;ENST00000535166;ENST00000366668;ENST00000534989;ENST00000546013	T;T;T;T;T	0.47177	1.88;1.87;1.88;1.88;0.85	5.6	5.6	0.85130	.	0.045796	0.85682	D	0.000000	T	0.39600	0.1084	L	0.33339	1.005	0.80722	D	1	P;B	0.37141	0.584;0.172	B;B	0.32149	0.141;0.04	T	0.25950	-1.0117	10	0.42905	T	0.14	-27.1763	19.6087	0.95589	0.0:0.0:1.0:0.0	.	460;460	Q86U99;Q14746	.;COG2_HUMAN	Q	460;344;460;401;149	ENSP00000355629:E460Q;ENSP00000445724:E344Q;ENSP00000355628:E460Q;ENSP00000440349:E401Q;ENSP00000442147:E149Q	ENSP00000355628:E460Q	E	+	1	0	COG2	228887603	1.000000	0.71417	0.958000	0.39756	0.504000	0.33889	9.354000	0.97083	2.639000	0.89480	0.655000	0.94253	GAG		0.423	COG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092087.1	NM_007357	
AGAP12P	414224	broad.mit.edu	37	10	49218553	49218553	+	IGR	SNP	T	T	C	rs77581903		TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr10:49218553T>C								FAM25C (10735 upstream) : RNA5SP315 (29922 downstream)																							ATATTTGGAATGGATCCAGCG	0.567																																						uc001jgd.2																			0											c.(1585-1587)CAT>CGT		RecName: Full=Arf-GAP, GTPase, ANK repeat and PH domain-containing protein 11; AltName: Full=Centaurin-gamma-like protein KIAA1975;																																				SO:0001628	intergenic_variant	0							g.chr10:49218553T>C																													10.37:g.49218553T>C						uc001jge.1_5'Flank	p.H529R							8	1745	-									Missense_Mutation	SNP		37	c.1586A>G																																																																																				0	0.567								
PTEN	5728	broad.mit.edu	37	10	89692835	89692835	+	Missense_Mutation	SNP	G	G	T	rs57374291		TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr10:89692835G>T	ENST00000371953.3	+	5	1676	c.319G>T	c.(319-321)Gat>Tat	p.D107Y		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	107	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		D -> Y (in BRRS and glioblastoma; loss of phosphatase activity towards Ins(1,3,4,5)P4). {ECO:0000269|PubMed:9331071}.		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.D107Y(3)|p.Y27fs*1(2)|p.F56fs*2(1)|p.P103fs*3(1)|p.D107N(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CTTTTGTGAAGATCTTGACCA	0.368		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.2		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	D|Mis|N|F|S	phosphatase and tensin homolog gene			"""L, E, M, O"""		harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial		55	Whole gene deletion(37)|Deletion - Frameshift(9)|Unknown(5)|Substitution - Missense(4)	p.R55fs*1(4)|p.D107Y(3)|p.?(2)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.D107N(1)|p.D107A(1)|p.F56fs*2(1)|p.P103fs*3(1)	prostate(16)|central_nervous_system(12)|skin(6)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|endometrium(3)|ovary(3)|soft_tissue(1)|urinary_tract(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334						c.(319-321)GAT>TAT		phosphatase and tensin homolog							118.0	109.0	112.0					10																	89692835		2203	4297	6500	SO:0001583	missense	5728	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89692835G>T	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.319G>T	10.37:g.89692835G>T	ENSP00000361021:p.Asp107Tyr	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.D107Y	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	6	1350	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	107		D -> Y (in BZS and glioblastoma; loss of phosphatase activity towards Ins(1,3,4,5)P4).	Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.319G>T	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.714715	0.89112	.	.	ENSG00000171862	ENST00000371953	D	0.86297	-2.1	5.07	5.07	0.68467	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.94810	0.8324	M	0.90309	3.105	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95560	0.8628	9	.	.	.	-8.2539	18.4584	0.90729	0.0:0.0:1.0:0.0	.	107	P60484	PTEN_HUMAN	Y	107	ENSP00000361021:D107Y	.	D	+	1	0	PTEN	89682815	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.425000	0.97467	2.318000	0.78349	0.655000	0.94253	GAT		0.368	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
NFKB2	4791	broad.mit.edu	37	10	104158521	104158521	+	Silent	SNP	G	G	T			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr10:104158521G>T	ENST00000369966.3	+	12	1267	c.1017G>T	c.(1015-1017)cgG>cgT	p.R339R	NFKB2_ENST00000336486.5_3'UTR|NFKB2_ENST00000428099.1_Silent_p.R339R|NFKB2_ENST00000189444.6_Silent_p.R339R	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	339	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				extracellular matrix organization (GO:0030198)|follicular dendritic cell differentiation (GO:0002268)|germinal center formation (GO:0002467)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|spleen development (GO:0048536)|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, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Bcl3/NF-kappaB2 complex (GO:0033257)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)	Acetylsalicylic acid(DB00945)|Glucosamine(DB01296)	AGCGGAAGCGGAGGAAGGCCT	0.637			T	IGH@	B-NHL																																	uc001kvb.2				Dom	yes		10	10q24	4791	T	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)			L	IGH@		B-NHL		0				lung(3)	3						c.(1015-1017)CGG>CGT		nuclear factor of kappa light polypeptide gene							31.0	33.0	33.0					10																	104158521		1960	4144	6104	SO:0001819	synonymous_variant	4791				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|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	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr10:104158521G>T	X61498	CCDS41564.1, CCDS41565.1	10q24	2013-01-10			ENSG00000077150	ENSG00000077150		"""Ankyrin repeat domain containing"""	7795	protein-coding gene	gene with protein product		164012				1876189	Standard	XM_005269860		Approved	LYT-10, p52, p105, NF-kB2	uc001kvb.4	Q00653	OTTHUMG00000018962	ENST00000369966.3:c.1017G>T	10.37:g.104158521G>T						NFKB2_uc001kva.2_Silent_p.R339R|NFKB2_uc010qqk.1_Silent_p.R339R|NFKB2_uc001kvd.2_Silent_p.R339R|NFKB2_uc009xxc.2_Silent_p.R339R	p.R339R	NM_001077494	NP_001070962	Q00653	NFKB2_HUMAN		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)	12	1282	+		Colorectal(252;0.00957)	339			RHD.|Nuclear localization signal (Potential).		A8K9D9|D3DR83|Q04860|Q9BU75|Q9H471|Q9H472	Silent	SNP	ENST00000369966.3	37	c.1017G>T	CCDS41564.1																																																																																				0.637	NFKB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050080.2		
MUC5AC	4586	broad.mit.edu	37	11	1158988	1158988	+	Missense_Mutation	SNP	T	T	C			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr11:1158988T>C	ENST00000356191.2	+	15	1157	c.1157T>C	c.(1156-1158)gTc>gCc	p.V386A				P98088	MUC5A_HUMAN	mucin 5AC, oligomeric mucus/gel-forming	389					cellular protein metabolic process (GO:0044267)|extracellular fibril organization (GO:0043206)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|fibril (GO:0043205)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		ACCGGCTGTGTCCCTGTGTCA	0.662																																						uc009ycr.1																			0					0						c.(1165-1167)GTC>GCC		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							61.0	61.0	61.0					11																	1158988		874	1989	2863	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1158988T>C	AJ001402, AJ298317		11p15.5	2007-04-23	2006-03-14		ENSG00000215182	ENSG00000215182		"""Mucins"""	7515	protein-coding gene	gene with protein product		158373	"""mucin 5, subtypes A and C, tracheobronchial/gastric"""			7826332, 9588204	Standard	XM_006709945		Approved	MUC5	uc001lsz.3	P98088	OTTHUMG00000154270	ENST00000356191.2:c.1157T>C	11.37:g.1158988T>C	ENSP00000348519:p.Val386Ala						p.V389A	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	11	1292	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					O60460|O76065|Q13792|Q14425|Q658Q1|Q7M4S5|Q8N4M9|Q8WWQ3|Q8WWQ4|Q8WWQ5	Missense_Mutation	SNP	ENST00000356191.2	37	c.1166T>C		.	.	.	.	.	.	.	.	.	.	t	18.71	3.681380	0.68042	.	.	ENSG00000215182	ENST00000534821;ENST00000356191	D;D	0.95342	-3.68;-3.68	3.87	3.87	0.44632	.	.	.	.	.	D	0.97359	0.9136	M	0.94063	3.49	.	.	.	D	0.59767	0.986	P	0.61800	0.894	D	0.99914	1.1216	8	0.87932	D	0	.	12.3833	0.55320	0.0:0.0:0.0:1.0	.	389	A7Y9J9	.	A	389;386	ENSP00000435591:V389A;ENSP00000348519:V386A	ENSP00000348519:V386A	V	+	2	0	MUC5AC	1148988	0.084000	0.21492	0.001000	0.08648	0.003000	0.03518	2.816000	0.48026	1.390000	0.46547	0.364000	0.22116	GTC		0.662	MUC5AC-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_001130382	
OR51L1	119682	broad.mit.edu	37	11	5020755	5020755	+	Silent	SNP	T	T	C			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr11:5020755T>C	ENST00000321543.1	+	1	543	c.543T>C	c.(541-543)tgT>tgC	p.C181C		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	181						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACGCCTTCTGTTTGCACCAGG	0.473																																						uc010qyu.1																			0				skin(1)	1						c.(541-543)TGT>TGC		olfactory receptor, family 51, subfamily L,							225.0	190.0	202.0					11																	5020755		2201	4298	6499	SO:0001819	synonymous_variant	119682				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5020755T>C	AB065799	CCDS31369.1	11p15.4	2012-08-09			ENSG00000176798	ENSG00000176798		"""GPCR / Class A : Olfactory receptors"""	14759	protein-coding gene	gene with protein product							Standard	NM_001004755		Approved		uc010qyu.2	Q8NGJ5	OTTHUMG00000066605	ENST00000321543.1:c.543T>C	11.37:g.5020755T>C							p.C181C	NM_001004755	NP_001004755	Q8NGJ5	O51L1_HUMAN		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	543	+		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)	181			Extracellular (Potential).		Q6IFE5	Silent	SNP	ENST00000321543.1	37	c.543T>C	CCDS31369.1																																																																																				0.473	OR51L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142812.1	NM_001004755	
OR4D6	219983	broad.mit.edu	37	11	59225156	59225156	+	Silent	SNP	G	G	A			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr11:59225156G>A	ENST00000300127.2	+	1	746	c.723G>A	c.(721-723)acG>acA	p.T241T		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	241						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(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						CCACGTGCACGTCCCACATGC	0.557																																						uc010rku.1																			0				ovary(1)	1						c.(721-723)ACG>ACA		olfactory receptor, family 4, subfamily D,							118.0	106.0	110.0					11																	59225156		2201	4295	6496	SO:0001819	synonymous_variant	219983				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59225156G>A	AB065803	CCDS31562.1	11q12.1	2012-08-09			ENSG00000166884	ENSG00000166884		"""GPCR / Class A : Olfactory receptors"""	15175	protein-coding gene	gene with protein product							Standard	NM_001004708		Approved		uc010rku.2	Q8NGJ1	OTTHUMG00000167340	ENST00000300127.2:c.723G>A	11.37:g.59225156G>A							p.T241T	NM_001004708	NP_001004708	Q8NGJ1	OR4D6_HUMAN			1	723	+			241			Helical; Name=6; (Potential).		B2RNP7|Q6IFF5|Q96R74	Silent	SNP	ENST00000300127.2	37	c.723G>A	CCDS31562.1																																																																																				0.557	OR4D6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394234.1	NM_001004708	
OR4D11	219986	broad.mit.edu	37	11	59271382	59271382	+	Missense_Mutation	SNP	A	A	T			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr11:59271382A>T	ENST00000313253.1	+	1	334	c.334A>T	c.(334-336)Att>Ttt	p.I112F		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	112						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						TGGGGCAGACATTTTTTCTCT	0.473																																						uc001noa.1																			0				ovary(1)|skin(1)	2						c.(334-336)ATT>TTT		olfactory receptor, family 4, subfamily D,							174.0	163.0	166.0					11																	59271382		2201	4295	6496	SO:0001583	missense	219986				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59271382A>T	AB065810	CCDS31563.1	11q12.1	2012-08-09		2004-03-10	ENSG00000176200	ENSG00000176200		"""GPCR / Class A : Olfactory receptors"""	15174	protein-coding gene	gene with protein product				OR4D11P			Standard	NM_001004706		Approved		uc001noa.1	Q8NGI4	OTTHUMG00000167342	ENST00000313253.1:c.334A>T	11.37:g.59271382A>T	ENSP00000320077:p.Ile112Phe						p.I112F	NM_001004706	NP_001004706	Q8NGI4	OR4DB_HUMAN			1	334	+			112			Helical; Name=3; (Potential).			Missense_Mutation	SNP	ENST00000313253.1	37	c.334A>T	CCDS31563.1	.	.	.	.	.	.	.	.	.	.	a	16.67	3.186439	0.57909	.	.	ENSG00000176200	ENST00000313253	T	0.00397	7.57	5.44	3.08	0.35506	GPCR, rhodopsin-like superfamily (1);	0.257571	0.27415	N	0.019469	T	0.00356	0.0011	N	0.20530	0.585	0.30523	N	0.768207	P	0.41910	0.764	P	0.52957	0.714	T	0.53739	-0.8396	10	0.87932	D	0	-17.4389	9.0505	0.36374	0.8437:0.0:0.1563:0.0	.	112	Q8NGI4	OR4DB_HUMAN	F	112	ENSP00000320077:I112F	ENSP00000320077:I112F	I	+	1	0	OR4D11	59027958	0.000000	0.05858	0.998000	0.56505	0.856000	0.48823	-1.689000	0.01923	0.909000	0.36697	0.455000	0.32223	ATT		0.473	OR4D11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394236.1	NM_001004706	
OR4D11	219986	broad.mit.edu	37	11	59271391	59271391	+	Missense_Mutation	SNP	C	C	G			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr11:59271391C>G	ENST00000313253.1	+	1	343	c.343C>G	c.(343-345)Ctc>Gtc	p.L115V		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	115						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						CATTTTTTCTCTCTCTGTGAT	0.488																																						uc001noa.1																			0				ovary(1)|skin(1)	2						c.(343-345)CTC>GTC		olfactory receptor, family 4, subfamily D,							169.0	158.0	161.0					11																	59271391		2201	4295	6496	SO:0001583	missense	219986				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59271391C>G	AB065810	CCDS31563.1	11q12.1	2012-08-09		2004-03-10	ENSG00000176200	ENSG00000176200		"""GPCR / Class A : Olfactory receptors"""	15174	protein-coding gene	gene with protein product				OR4D11P			Standard	NM_001004706		Approved		uc001noa.1	Q8NGI4	OTTHUMG00000167342	ENST00000313253.1:c.343C>G	11.37:g.59271391C>G	ENSP00000320077:p.Leu115Val						p.L115V	NM_001004706	NP_001004706	Q8NGI4	OR4DB_HUMAN			1	343	+			115			Helical; Name=3; (Potential).			Missense_Mutation	SNP	ENST00000313253.1	37	c.343C>G	CCDS31563.1	.	.	.	.	.	.	.	.	.	.	c	15.87	2.961817	0.53400	.	.	ENSG00000176200	ENST00000313253	T	0.06449	3.3	5.44	5.44	0.79542	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45126	D	0.000382	T	0.40886	0.1135	H	0.96970	3.915	0.41648	D	0.989117	D	0.89917	1.0	D	0.91635	0.999	T	0.61048	-0.7141	10	0.87932	D	0	-53.2946	17.8283	0.88673	0.0:1.0:0.0:0.0	.	115	Q8NGI4	OR4DB_HUMAN	V	115	ENSP00000320077:L115V	ENSP00000320077:L115V	L	+	1	0	OR4D11	59027967	0.930000	0.31532	1.000000	0.80357	0.671000	0.39405	2.008000	0.40893	2.554000	0.86153	0.557000	0.71058	CTC		0.488	OR4D11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394236.1	NM_001004706	
CHRDL2	25884	broad.mit.edu	37	11	74414523	74414523	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr11:74414523G>A	ENST00000376332.3	-	8	1269	c.773C>T	c.(772-774)aCg>aTg	p.T258M	CHRDL2_ENST00000534159.1_5'UTR|CHRDL2_ENST00000263671.5_Missense_Mutation_p.T258M	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN	chordin-like 2	258	VWFC 3. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cartilage development (GO:0051216)|cell differentiation (GO:0030154)|ossification (GO:0001503)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					GTGGGAGTACGTCTTCCCGCC	0.657																																						uc001ovi.2																			0					0						c.(772-774)ACG>ATG		RecName: Full=Chordin-like protein 2; AltName: Full=Chordin-related protein 2; AltName: Full=Breast tumor novel factor 1;          Short=BNF-1; Flags: Precursor;							25.0	24.0	24.0					11																	74414523		2199	4293	6492	SO:0001583	missense	25884				cartilage development|cell differentiation|ossification	extracellular region|mitochondrion		g.chr11:74414523G>A	AL110168	CCDS8234.1, CCDS60893.1	11q13.4	2013-09-20			ENSG00000054938	ENSG00000054938			24168	protein-coding gene	gene with protein product		613127				12853144, 12975309	Standard	NM_015424		Approved	BNF1	uc001ovh.3	Q6WN34	OTTHUMG00000165623	ENST00000376332.3:c.773C>T	11.37:g.74414523G>A	ENSP00000365510:p.Thr258Met					CHRDL2_uc001ovg.2_Missense_Mutation_p.T142M|CHRDL2_uc001ovh.2_Missense_Mutation_p.T258M|CHRDL2_uc001ovj.1_RNA|CHRDL2_uc001ovk.1_Intron	p.T258M			Q6WN34	CRDL2_HUMAN			8	1026	-	Hepatocellular(1;0.098)		258			VWFC 3.		A5PKU9|Q6WN30|Q6WN31|Q6WN32|Q7Z5J3	Missense_Mutation	SNP	ENST00000376332.3	37	c.773C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.8|25.8	4.680117|4.680117	0.88542|0.88542	.|.	.|.	ENSG00000054938|ENSG00000054938	ENST00000525413|ENST00000263671;ENST00000376332;ENST00000376323;ENST00000393519	.|T;T	.|0.71934	.|-0.61;-0.61	5.62|5.62	5.62|5.62	0.85841|0.85841	.|von Willebrand factor, type C (3);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.82070|0.82070	0.4957|0.4957	L|L	0.60957|0.60957	1.885|1.885	0.58432|0.58432	D|D	0.999997|0.999997	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;0.999	T|T	0.82376|0.82376	-0.0488|-0.0488	5|10	.|0.56958	.|D	.|0.05	-12.5048|-12.5048	17.1513|17.1513	0.86779|0.86779	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|258;258	.|Q6WN34;Q6WN34-2	.|CRDL2_HUMAN;.	C|M	58|258;258;144;142	.|ENSP00000263671:T258M;ENSP00000365510:T258M	.|ENSP00000263671:T258M	R|T	-|-	1|2	0|0	CHRDL2|CHRDL2	74092171|74092171	1.000000|1.000000	0.71417|0.71417	0.961000|0.961000	0.40146|0.40146	0.934000|0.934000	0.57294|0.57294	8.062000|8.062000	0.89475|0.89475	2.645000|2.645000	0.89757|0.89757	0.462000|0.462000	0.41574|0.41574	CGT|ACG		0.657	CHRDL2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000385391.1		
EXPH5	23086	broad.mit.edu	37	11	108383232	108383232	+	Frame_Shift_Del	DEL	C	C	-			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr11:108383232delC	ENST00000265843.4	-	6	3112	c.3002delG	c.(3001-3003)agcfs	p.S1001fs	EXPH5_ENST00000428840.1_Frame_Shift_Del_p.S925fs|EXPH5_ENST00000524840.1_5'Flank|EXPH5_ENST00000525344.1_Frame_Shift_Del_p.S994fs|EXPH5_ENST00000443411.1_Frame_Shift_Del_p.S813fs	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	1001					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TTCAATGAGGCTCCTGTGATC	0.363																																						uc001pkk.2																			0				skin(3)|ovary(2)	5						c.(3001-3003)AGCfs		exophilin 5 isoform a							101.0	92.0	95.0					11																	108383232		2201	4298	6499	SO:0001589	frameshift_variant	23086				intracellular protein transport		Rab GTPase binding	g.chr11:108383232delC		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.3002delG	11.37:g.108383232delC	ENSP00000265843:p.Ser1001fs					EXPH5_uc010rvy.1_Frame_Shift_Del_p.S813fs|EXPH5_uc010rvz.1_Frame_Shift_Del_p.S845fs|EXPH5_uc010rwa.1_Frame_Shift_Del_p.S925fs	p.S1001fs	NM_015065	NP_055880	Q8NEV8	EXPH5_HUMAN		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)	6	3113	-		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)	1001					Q2KHM1|Q9Y4D6	Frame_Shift_Del	DEL	ENST00000265843.4	37	c.3002delG	CCDS8341.1																																																																																				0.363	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065	
SIK2	23235	broad.mit.edu	37	11	111590592	111590592	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr11:111590592G>A	ENST00000304987.3	+	10	1533	c.1360G>A	c.(1360-1362)Gaa>Aaa	p.E454K	SIK2_ENST00000533868.1_3'UTR	NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	454					insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of insulin receptor signaling pathway (GO:0046626)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						CTCCATTGACGAAGGGCTGGA	0.587																																						uc001plt.2																			0				central_nervous_system(2)|skin(1)	3						c.(1360-1362)GAA>AAA		SNF1-like kinase 2							87.0	63.0	71.0					11																	111590592		2201	4297	6498	SO:0001583	missense	23235				intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:111590592G>A	AB018324	CCDS8347.1	11q23.1	2008-12-23	2008-12-23	2008-12-23	ENSG00000170145	ENSG00000170145			21680	protein-coding gene	gene with protein product		608973	"""SNF1-like kinase 2"""	SNF1LK2		15067358	Standard	NM_015191		Approved	KIAA0781, QIK, DKFZp434K1115, LOH11CR1I	uc001plt.3	Q9H0K1	OTTHUMG00000150644	ENST00000304987.3:c.1360G>A	11.37:g.111590592G>A	ENSP00000305976:p.Glu454Lys						p.E454K	NM_015191	NP_056006	Q9H0K1	SIK2_HUMAN			10	1478	+			454					A8K5B8|B0YJ94|O94878|Q17RV0|Q6AZE2|Q76N03|Q8NCV7|Q96CZ8	Missense_Mutation	SNP	ENST00000304987.3	37	c.1360G>A	CCDS8347.1	.	.	.	.	.	.	.	.	.	.	G	37	6.151499	0.97329	.	.	ENSG00000170145	ENST00000304987	D	0.87412	-2.25	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.93746	0.8001	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93025	0.6443	10	0.62326	D	0.03	.	20.4898	0.99202	0.0:0.0:1.0:0.0	.	454	Q9H0K1	SIK2_HUMAN	K	454	ENSP00000305976:E454K	ENSP00000305976:E454K	E	+	1	0	SIK2	111095802	1.000000	0.71417	0.973000	0.42090	0.990000	0.78478	9.357000	0.97099	2.941000	0.99782	0.655000	0.94253	GAA		0.587	SIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319352.3	NM_015191	
ZBTB44	29068	broad.mit.edu	37	11	130130851	130130851	+	Silent	SNP	A	A	T			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr11:130130851A>T	ENST00000357899.4	-	2	1190	c.918T>A	c.(916-918)ccT>ccA	p.P306P	ZBTB44_ENST00000525842.1_Silent_p.P306P|ZBTB44_ENST00000530205.1_Silent_p.P306P|ZBTB44_ENST00000397753.1_Silent_p.P306P			Q8NCP5	ZBT44_HUMAN	zinc finger and BTB domain containing 44	306					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)		ATGCACTGACAGGCTGGGACA	0.473																																						uc001qga.2																			0				ovary(1)	1						c.(916-918)CCT>CCA		zinc finger and BTB domain containing 44							181.0	178.0	179.0					11																	130130851		2027	4192	6219	SO:0001819	synonymous_variant	29068				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:130130851A>T	AK024659	CCDS44776.1, CCDS73414.1, CCDS73415.1	11q24.3	2013-01-08	2006-09-19	2006-09-19		ENSG00000196323		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	25001	protein-coding gene	gene with protein product			"""BTB (POZ) domain containing 15"""	BTBD15		11042152	Standard	NM_014155		Approved	HSPC063, ZNF851	uc001qgb.4	Q8NCP5		ENST00000357899.4:c.918T>A	11.37:g.130130851A>T						ZBTB44_uc001qgb.3_Silent_p.P306P|ZBTB44_uc001qfx.2_RNA|ZBTB44_uc001qgc.1_Silent_p.P306P|ZBTB44_uc001qfz.2_Silent_p.P306P	p.P306P	NM_014155	NP_054874	Q8NCP5	ZBT44_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)	2	1312	-	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	306					Q6IPT8|Q86VJ7|Q86XX5	Silent	SNP	ENST00000357899.4	37	c.918T>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	7.707|7.707	0.694338|0.694338	0.15039|0.15039	.|.	.|.	ENSG00000196323|ENSG00000196323	ENST00000527478|ENST00000529982	.|.	.|.	.|.	5.23|5.23	-0.0632|-0.0632	0.13778|0.13778	.|.	.|.	.|.	.|.	.|.	T|T	0.51075|0.51075	0.1653|0.1653	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.34925|0.34925	-0.9809|-0.9809	4|4	.|.	.|.	.|.	.|.	5.8188|5.8188	0.18516|0.18516	0.6229:0.0:0.2655:0.1116|0.6229:0.0:0.2655:0.1116	.|.	.|.	.|.	.|.	S|Q	303|160	.|.	.|.	C|L	-|-	1|2	0|0	ZBTB44|ZBTB44	129636061|129636061	0.218000|0.218000	0.23608|0.23608	0.994000|0.994000	0.49952|0.49952	0.998000|0.998000	0.95712|0.95712	-0.243000|-0.243000	0.08915|0.08915	-0.278000|-0.278000	0.09180|0.09180	0.460000|0.460000	0.39030|0.39030	TGT|CTG		0.473	ZBTB44-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000386126.1	NM_014155	
ANO2	57101	broad.mit.edu	37	12	5672695	5672695	+	Missense_Mutation	SNP	T	T	A			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr12:5672695T>A	ENST00000356134.5	-	27	2841	c.2770A>T	c.(2770-2772)Att>Ttt	p.I924F	ANO2_ENST00000327087.8_Missense_Mutation_p.I923F|ANO2_ENST00000546188.1_Missense_Mutation_p.I924F	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	928					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						ATGTCTGGAATCATCCAGTCC	0.542																																						uc001qnm.2																			0				ovary(4)|large_intestine(2)|central_nervous_system(1)	7						c.(2767-2769)ATT>TTT		anoctamin 2							85.0	80.0	82.0					12																	5672695		1971	4166	6137	SO:0001583	missense	57101					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	g.chr12:5672695T>A	AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	1183	protein-coding gene	gene with protein product	"""transmembrane protein 16B (eight membrane-spanning domains)"""	610109	"""chromosome 12 open reading frame 3"", ""transmembrane protein 16B"", ""anoctamin 2"""	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.2770A>T	12.37:g.5672695T>A	ENSP00000348453:p.Ile924Phe						p.I923F	NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN			26	2839	-			928			Helical; (Potential).		C4N787|Q9H847	Missense_Mutation	SNP	ENST00000356134.5	37	c.2767A>T		.	.	.	.	.	.	.	.	.	.	T	25.8	4.671531	0.88348	.	.	ENSG00000047617	ENST00000327087;ENST00000356134;ENST00000546188;ENST00000541277;ENST00000543568	T;T;T	0.71698	-0.59;-0.59;-0.59	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	D	0.87740	0.6253	H	0.94771	3.58	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.91067	0.4890	10	0.87932	D	0	.	13.8	0.63194	0.0:0.0:0.0:1.0	.	923	Q9NQ90-3	.	F	923;924;924;928;11	ENSP00000314048:I923F;ENSP00000348453:I924F;ENSP00000440981:I924F	ENSP00000314048:I923F	I	-	1	0	ANO2	5542956	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.990000	0.88215	1.919000	0.55581	0.454000	0.30748	ATT		0.542	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4	NM_020373	
PLEKHG6	55200	broad.mit.edu	37	12	6436676	6436676	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr12:6436676C>T	ENST00000396988.3	+	15	2157	c.1927C>T	c.(1927-1929)Cgc>Tgc	p.R643C	PLEKHG6_ENST00000304581.8_Missense_Mutation_p.R173C|PLEKHG6_ENST00000011684.7_Missense_Mutation_p.R643C|PLEKHG6_ENST00000449001.2_Missense_Mutation_p.R611C	NM_001144856.1	NP_001138328.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	643						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						AGCTCCTCAACGCCGAAGCGC	0.642																																						uc001qnr.2																			0				large_intestine(1)|skin(1)	2						c.(1927-1929)CGC>TGC		pleckstrin homology domain-containing family G							18.0	21.0	20.0					12																	6436676		2198	4293	6491	SO:0001583	missense	55200				regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr12:6436676C>T	AK001527	CCDS8541.1, CCDS44808.1	12p13.31	2013-01-11			ENSG00000008323	ENSG00000008323		"""Pleckstrin homology (PH) domain containing"""	25562	protein-coding gene	gene with protein product		611743					Standard	NM_018173		Approved	FLJ10665	uc001qnr.3	Q3KR16	OTTHUMG00000168266	ENST00000396988.3:c.1927C>T	12.37:g.6436676C>T	ENSP00000380185:p.Arg643Cys					PLEKHG6_uc010sew.1_Missense_Mutation_p.R643C|PLEKHG6_uc010sex.1_Missense_Mutation_p.R611C	p.R643C	NM_018173	NP_060643	Q3KR16	PKHG6_HUMAN			15	2075	+			643					Q3SWR1|Q8N1P1|Q8WYY1|Q9H8F4|Q9NVK9	Missense_Mutation	SNP	ENST00000396988.3	37	c.1927C>T	CCDS8541.1	.	.	.	.	.	.	.	.	.	.	C	19.68	3.873512	0.72180	.	.	ENSG00000008323	ENST00000011684;ENST00000396988;ENST00000449001;ENST00000304581	T;T;T	0.69306	-0.28;-0.28;-0.39	5.56	4.59	0.56863	.	0.157867	0.40728	N	0.001037	T	0.72622	0.3483	L	0.36672	1.1	0.45962	D	0.998783	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.994	T	0.72462	-0.4286	10	0.49607	T	0.09	-23.8914	12.3852	0.55328	0.1792:0.8208:0.0:0.0	.	611;643	Q3KR16-2;Q3KR16	.;PKHG6_HUMAN	C	643;643;611;173	ENSP00000011684:R643C;ENSP00000380185:R643C;ENSP00000393194:R611C	ENSP00000011684:R643C	R	+	1	0	PLEKHG6	6306937	1.000000	0.71417	0.997000	0.53966	0.973000	0.67179	2.378000	0.44309	2.625000	0.88918	0.555000	0.69702	CGC		0.642	PLEKHG6-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399031.1	NM_018173	
HCFC2	29915	broad.mit.edu	37	12	104461817	104461817	+	Silent	SNP	T	T	C			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr12:104461817T>C	ENST00000229330.4	+	3	509	c.405T>C	c.(403-405)taT>taC	p.Y135Y		NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	135					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						TCTCTTTATATGGTAACAAAT	0.418																																					Esophageal Squamous(184;1814 2036 4771 6974 15702)	uc001tkj.3																			0				ovary(2)|central_nervous_system(1)	3						c.(403-405)TAT>TAC		host cell factor C2							210.0	201.0	204.0					12																	104461817		2203	4300	6503	SO:0001819	synonymous_variant	29915				regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity	g.chr12:104461817T>C	AF117210	CCDS9097.1	12q23.3	2011-03-30			ENSG00000111727	ENSG00000111727			24972	protein-coding gene	gene with protein product		607926				10196288	Standard	NM_013320		Approved	HCF-2	uc001tkj.4	Q9Y5Z7	OTTHUMG00000170175	ENST00000229330.4:c.405T>C	12.37:g.104461817T>C						HCFC2_uc009zul.2_RNA	p.Y135Y	NM_013320	NP_037452	Q9Y5Z7	HCFC2_HUMAN			3	508	+			135					B2R8Q5|C0H5X3	Silent	SNP	ENST00000229330.4	37	c.405T>C	CCDS9097.1																																																																																				0.418	HCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407780.1	NM_013320	
RB1	5925	broad.mit.edu	37	13	49039230	49039230	+	Nonsense_Mutation	SNP	C	C	T			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr13:49039230C>T	ENST00000267163.4	+	22	2446	c.2308C>T	c.(2308-2310)Cag>Tag	p.Q770*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	770	Domain B.|Interaction with LIMD1.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(12)|p.L769fs*2(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	AAATATTTTGCAGTATGCTTC	0.323		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												uc001vcb.2		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	D|Mis|N|F|S	retinoblastoma gene			"""L, E, M, O"""		retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung		28	Whole gene deletion(15)|Unknown(12)|Complex - frameshift(1)	p.?(8)|p.L769fs*2(1)|p.Q770fs*24(1)	bone(11)|breast(5)|haematopoietic_and_lymphoid_tissue(4)|lung(2)|adrenal_gland(1)|eye(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|liver(1)	lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358	GRCh37	CM030516	RB1	M		c.(2308-2310)CAG>TAG		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						73.0	75.0	75.0					13																	49039230		2203	4300	6503	SO:0001587	stop_gained	5925	Hereditary_Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:49039230C>T	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.2308C>T	13.37:g.49039230C>T	ENSP00000267163:p.Gln770*	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)					p.Q770*	NM_000321	NP_000312	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	22	2474	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	770			Interaction with LIMD1.|Pocket; binds T and E1A.|Domain B.		A8K5E3|P78499|Q5VW46|Q8IZL4	Nonsense_Mutation	SNP	ENST00000267163.4	37	c.2308C>T	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	C	40	8.087254	0.98648	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	19.3432	0.94352	0.0:1.0:0.0:0.0	.	.	.	.	X	749;770	.	ENSP00000267163:Q770X	Q	+	1	0	RB1	47937231	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.487000	0.81328	2.593000	0.87608	0.591000	0.81541	CAG		0.323	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1		
KCNRG	283518	broad.mit.edu	37	13	50589726	50589726	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr13:50589726C>T	ENST00000312942.1	+	1	337	c.97C>T	c.(97-99)Cgc>Tgc	p.R33C	TRIM13_ENST00000478111.1_Intron|TRIM13_ENST00000378182.3_3'UTR|KCNRG_ENST00000360473.4_Missense_Mutation_p.R33C	NM_173605.1	NP_775876.1	Q8N5I3	KCNRG_HUMAN	potassium channel regulator	33	BTB.				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)		TCGTTTGGCACGCATGTTAGA	0.408																																						uc001vdu.2																			0					0						c.(97-99)CGC>TGC		potassium channel regulator isoform 1							167.0	168.0	168.0					13																	50589726		2203	4300	6503	SO:0001583	missense	283518					voltage-gated potassium channel complex	identical protein binding|voltage-gated potassium channel activity	g.chr13:50589726C>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.97C>T	13.37:g.50589726C>T	ENSP00000324191:p.Arg33Cys					DLEU2_uc001vdn.1_Intron|DLEU2_uc001vdo.1_Intron|KCNRG_uc001vdt.2_Missense_Mutation_p.R33C|TRIM13_uc001vdp.1_3'UTR|TRIM13_uc001vdq.1_3'UTR|TRIM13_uc001vdr.1_3'UTR|TRIM13_uc001vds.1_3'UTR	p.R33C	NM_173605	NP_775876	Q8N5I3	KCNRG_HUMAN		GBM - Glioblastoma multiforme(99;1.48e-10)|COAD - Colon adenocarcinoma(199;0.204)	1	337	+		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)	33			BTB.		A2A2X9|Q0P6D0|Q8IU75|Q8N3Q9	Missense_Mutation	SNP	ENST00000312942.1	37	c.97C>T	CCDS9424.1	.	.	.	.	.	.	.	.	.	.	C	2.915	-0.224490	0.06061	.	.	ENSG00000198553	ENST00000360473;ENST00000312942	T;T	0.78126	-1.15;-1.15	5.84	-1.36	0.09085	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.696179	0.13891	N	0.355601	T	0.71169	0.3308	M	0.77486	2.375	0.09310	N	0.999999	B;B	0.17268	0.021;0.004	B;B	0.10450	0.005;0.001	T	0.60737	-0.7204	10	0.52906	T	0.07	.	3.3571	0.07173	0.2765:0.464:0.0941:0.1654	.	33;33	Q8N5I3;Q8N5I3-2	KCNRG_HUMAN;.	C	33	ENSP00000353661:R33C;ENSP00000324191:R33C	ENSP00000324191:R33C	R	+	1	0	KCNRG	49487727	0.540000	0.26410	0.000000	0.03702	0.167000	0.22549	-0.168000	0.09925	-0.713000	0.04981	-0.940000	0.02684	CGC		0.408	KCNRG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276308.1		
TM9SF1	10548	broad.mit.edu	37	14	24661549	24661549	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr14:24661549C>T	ENST00000261789.4	-	4	1339	c.981G>A	c.(979-981)atG>atA	p.M327I	TM9SF1_ENST00000396854.4_Missense_Mutation_p.M327I|TM9SF1_ENST00000524835.1_Missense_Mutation_p.M240I|TM9SF1_ENST00000528669.1_Missense_Mutation_p.M327I|RP11-468E2.2_ENST00000561419.1_5'Flank|TM9SF1_ENST00000556387.1_Missense_Mutation_p.M536I|TM9SF1_ENST00000530611.1_Missense_Mutation_p.M536I	NM_006405.5	NP_006396.2	O15321	TM9S1_HUMAN	transmembrane 9 superfamily member 1	327					autophagy (GO:0006914)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)				NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24				GBM - Glioblastoma multiforme(265;0.0183)		CCAGCAGTGCCATGACAATAA	0.537																																						uc001wnb.1																			0				ovary(1)	1						c.(979-981)ATG>ATA		transmembrane 9 superfamily member 1 isoform a							76.0	64.0	68.0					14																	24661549		2203	4300	6503	SO:0001583	missense	10548				autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane		g.chr14:24661549C>T	U94831	CCDS9617.1, CCDS41934.1, CCDS73623.1	14q11.2	2005-10-11			ENSG00000100926	ENSG00000100926			11864	protein-coding gene	gene with protein product						9332367	Standard	NM_006405		Approved	MP70, HMP70	uc010tob.1	O15321	OTTHUMG00000029322	ENST00000261789.4:c.981G>A	14.37:g.24661549C>T	ENSP00000261789:p.Met327Ile					IPO4_uc001wmx.1_5'Flank|IPO4_uc001wmy.1_5'Flank|IPO4_uc010tnz.1_5'Flank|IPO4_uc001wmw.1_5'Flank|IPO4_uc001wmz.1_5'Flank|TM9SF1_uc010toa.1_Missense_Mutation_p.M240I|TM9SF1_uc001wna.1_RNA|TM9SF1_uc010tob.1_Missense_Mutation_p.M562I|TM9SF1_uc001wnc.2_Missense_Mutation_p.M327I|TM9SF1_uc001wnd.2_Missense_Mutation_p.M183I	p.M327I	NM_006405	NP_006396	O15321	TM9S1_HUMAN		GBM - Glioblastoma multiforme(265;0.0183)	4	1329	-			327			Helical; (Potential).		D3DS65|Q86SZ6|Q96FI8	Missense_Mutation	SNP	ENST00000261789.4	37	c.981G>A	CCDS9617.1	.	.	.	.	.	.	.	.	.	.	C	16.60	3.167896	0.57476	.	.	ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000254692	ENST00000261789;ENST00000528669;ENST00000556387;ENST00000524835;ENST00000396854;ENST00000530611	T;T;T;T;T;T	0.79653	1.09;1.09;1.09;0.46;-1.29;1.09	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.69628	0.3132	N	0.17248	0.465	0.80722	D	1	B;B;B	0.32968	0.392;0.024;0.005	B;B;B	0.33960	0.173;0.055;0.03	T	0.69235	-0.5198	10	0.38643	T	0.18	-19.6972	16.5211	0.84317	0.0:1.0:0.0:0.0	.	327;327;327	E9PJM1;Q86SZ6;O15321	.;.;TM9S1_HUMAN	I	327;327;536;240;327;536	ENSP00000261789:M327I;ENSP00000432997:M327I;ENSP00000451949:M536I;ENSP00000434387:M240I;ENSP00000380063:M327I;ENSP00000433967:M536I	ENSP00000433967:M536I	M	-	3	0	TM9SF1;RP11-468E2.1	23731389	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.860000	0.75473	2.779000	0.95612	0.655000	0.94253	ATG		0.537	TM9SF1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000073136.2	NM_006405	
SERPINA4	5267	broad.mit.edu	37	14	95033524	95033524	+	Silent	SNP	T	T	A			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr14:95033524T>A	ENST00000557004.1	+	3	1288	c.867T>A	c.(865-867)atT>atA	p.I289I	SERPINA4_ENST00000298841.5_Silent_p.I289I|SERPINA4_ENST00000555095.1_Silent_p.I289I|SERPINA5_ENST00000553780.1_Intron			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	289					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		TGAGGGAGATTGAAGAGGTTC	0.468																																						uc001ydk.2																			0				ovary(3)|skin(1)	4						c.(865-867)ATT>ATA		serine (or cysteine) proteinase inhibitor, clade							100.0	97.0	98.0					14																	95033524		2203	4300	6503	SO:0001819	synonymous_variant	5267				regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	g.chr14:95033524T>A	L19684	CCDS9927.1	14q32.13	2014-02-18	2005-08-18		ENSG00000100665	ENSG00000100665		"""Serine (or cysteine) peptidase inhibitors"""	8948	protein-coding gene	gene with protein product		147935	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4"""	PI4		8227002, 24172014	Standard	NM_001289032		Approved	KST, KAL, KLST, kallistatin	uc001ydk.3	P29622	OTTHUMG00000170859	ENST00000557004.1:c.867T>A	14.37:g.95033524T>A						SERPINA4_uc010avd.2_Silent_p.I326I|SERPINA4_uc001ydl.2_Silent_p.I289I	p.I289I	NM_006215	NP_006206	P29622	KAIN_HUMAN		COAD - Colon adenocarcinoma(157;0.211)	3	933	+			289					Q53XB5|Q86TR9|Q96BZ5	Silent	SNP	ENST00000557004.1	37	c.867T>A	CCDS9927.1																																																																																				0.468	SERPINA4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410718.1	NM_006215	
PLA2G4F	255189	broad.mit.edu	37	15	42439928	42439928	+	Silent	SNP	A	A	C			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr15:42439928A>C	ENST00000382396.4	-	12	1178	c.1092T>G	c.(1090-1092)ggT>ggG	p.G364G	PLA2G4F_ENST00000397272.3_Silent_p.G366G			Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	364	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid secretion (GO:0050482)|cellular response to antibiotic (GO:0071236)|cellular response to organic cyclic compound (GO:0071407)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	calcium-dependent phospholipase A2 activity (GO:0047498)|lysophospholipase activity (GO:0004622)|metal ion binding (GO:0046872)	p.G364G(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		CTCGGGTTCCACCCCCGGAAC	0.547																																						uc001zoz.2																			1	Substitution - coding silent(1)		kidney(1)	ovary(4)	4						c.(1090-1092)GGT>GGG		phospholipase A2, group IVF							51.0	55.0	54.0					15																	42439928		2203	4299	6502	SO:0001819	synonymous_variant	255189				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity	g.chr15:42439928A>C		CCDS32204.1	15q15.1	2008-09-19				ENSG00000168907	3.1.1.4		27396	protein-coding gene	gene with protein product						14702039, 15866882	Standard	NM_213600		Approved	PLA2G4F/Z	uc001zoz.3	Q68DD2		ENST00000382396.4:c.1092T>G	15.37:g.42439928A>C						PLA2G4F_uc010bcq.2_5'Flank|PLA2G4F_uc001zoy.2_5'UTR|PLA2G4F_uc010bcr.2_Silent_p.G115G|PLA2G4F_uc001zpa.2_Silent_p.G115G|PLA2G4F_uc010bcs.2_Silent_p.G151G	p.G364G	NM_213600	NP_998765	Q68DD2	PA24F_HUMAN		GBM - Glioblastoma multiforme(94;8.97e-07)	12	1155	-		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)	364			PLA2c.		Q6ZMC8	Silent	SNP	ENST00000382396.4	37	c.1092T>G	CCDS32204.1																																																																																				0.547	PLA2G4F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000420463.1	NM_213600	
MAP1A	4130	broad.mit.edu	37	15	43817784	43817784	+	Silent	SNP	C	C	T			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr15:43817784C>T	ENST00000300231.5	+	4	4563	c.4113C>T	c.(4111-4113)gaC>gaT	p.D1371D	MAP1A_ENST00000399453.1_Silent_p.D1371D|MAP1A_ENST00000382031.1_Silent_p.D1609D			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1371					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	AGCAGAAAGACAAAACTCTGG	0.453																																						uc001zrt.2																			0				ovary(3)|breast(3)|pancreas(2)|skin(1)	9						c.(4111-4113)GAC>GAT		microtubule-associated protein 1A	Estramustine(DB01196)						99.0	96.0	97.0					15																	43817784		1907	4125	6032	SO:0001819	synonymous_variant	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43817784C>T	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.4113C>T	15.37:g.43817784C>T							p.D1371D	NM_002373	NP_002364	P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	4	4580	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	1371					O95643|Q12973|Q15882|Q9UJT4	Silent	SNP	ENST00000300231.5	37	c.4113C>T	CCDS42031.1																																																																																				0.453	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373	
RNF111	54778	broad.mit.edu	37	15	59323149	59323149	+	Missense_Mutation	SNP	T	T	C			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr15:59323149T>C	ENST00000557998.1	+	2	415	c.128T>C	c.(127-129)aTt>aCt	p.I43T	RNF111_ENST00000561186.1_Missense_Mutation_p.I43T|RNF111_ENST00000434298.1_Missense_Mutation_p.I43T|RNF111_ENST00000559209.1_Missense_Mutation_p.I43T|RNF111_ENST00000348370.4_Missense_Mutation_p.I43T	NM_001270530.1	NP_001257459.1	Q6ZNA4	RN111_HUMAN	ring finger protein 111	43					gene expression (GO:0010467)|pattern specification process (GO:0007389)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein polyubiquitination (GO:0000209)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|SUMO polymer binding (GO:0032184)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		CCAGAGCCCATTGGGGCAGCC	0.438																																					NSCLC(72;983 1365 10746 34387 47081)	uc002afv.2																			0				ovary(2)	2						c.(127-129)ATT>ACT		ring finger protein 111							69.0	70.0	69.0					15																	59323149		2192	4292	6484	SO:0001583	missense	54778				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:59323149T>C	AL157474	CCDS10169.1, CCDS58365.1, CCDS58366.1	15q21	2013-01-09			ENSG00000157450	ENSG00000157450		"""RING-type (C3HC4) zinc fingers"""	17384	protein-coding gene	gene with protein product		605840				11298452	Standard	NM_017610		Approved	ARK, Arkadia, FLJ38008, DKFZP761D081	uc002aft.4	Q6ZNA4	OTTHUMG00000132716	ENST00000557998.1:c.128T>C	15.37:g.59323149T>C	ENSP00000452732:p.Ile43Thr					RNF111_uc002afs.2_Missense_Mutation_p.I43T|RNF111_uc002aft.2_Missense_Mutation_p.I43T|RNF111_uc002afu.2_Missense_Mutation_p.I43T|RNF111_uc002afw.2_Missense_Mutation_p.I43T	p.I43T	NM_017610	NP_060080	Q6ZNA4	RN111_HUMAN		all cancers(107;0.194)	2	407	+			43					C9JUS4|H0YN55|Q6P9A4|Q6ZMU2|Q7L428|Q7Z346|Q8N1P9|Q8WUA3|Q9NSR1	Missense_Mutation	SNP	ENST00000557998.1	37	c.128T>C	CCDS58366.1	.	.	.	.	.	.	.	.	.	.	T	16.76	3.212306	0.58452	.	.	ENSG00000157450	ENST00000348370;ENST00000434298	T;T	0.17370	2.28;2.29	5.57	5.57	0.84162	.	0.268845	0.41294	D	0.000905	T	0.19248	0.0462	L	0.44542	1.39	0.43390	D	0.995503	B;B;B	0.26258	0.145;0.09;0.145	B;B;B	0.29176	0.099;0.028;0.061	T	0.02275	-1.1184	10	0.87932	D	0	-11.4874	14.915	0.70789	0.0:0.0:0.0:1.0	.	43;43;43	Q6ZNA4-3;Q6ZNA4;Q6ZNA4-2	.;RN111_HUMAN;.	T	43	ENSP00000288199:I43T;ENSP00000393641:I43T	ENSP00000288199:I43T	I	+	2	0	RNF111	57110441	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	5.603000	0.67619	2.114000	0.64651	0.397000	0.26171	ATT		0.438	RNF111-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000416012.1	NM_017610	
TP53	7157	broad.mit.edu	37	17	7577520	7577520	+	Missense_Mutation	SNP	A	A	C			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr17:7577520A>C	ENST00000269305.4	-	7	950	c.761T>G	c.(760-762)aTc>aGc	p.I254S	TP53_ENST00000445888.2_Missense_Mutation_p.I254S|TP53_ENST00000420246.2_Missense_Mutation_p.I254S|TP53_ENST00000413465.2_Missense_Mutation_p.I254S|TP53_ENST00000359597.4_Missense_Mutation_p.I254S|TP53_ENST00000455263.2_Missense_Mutation_p.I254S|TP53_ENST00000574684.1_5'Flank	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	254	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		I -> D (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|I -> F (in a sporadic cancer; somatic mutation).|I -> L (in a sporadic cancer; somatic mutation).|I -> M (in a sporadic cancer; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (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.0?(8)|p.I254S(6)|p.L252_I254delLTI(4)|p.I254T(3)|p.I254N(3)|p.I254D(3)|p.T253_I255del(2)|p.I254del(2)|p.?(1)|p.I254fs*7(1)|p.I254_T256del(1)|p.R249_T256delRPILTIIT(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)	CAGTGTGATGATGGTGAGGAT	0.587		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		35	Substitution - Missense(15)|Deletion - In frame(10)|Whole gene deletion(8)|Deletion - Frameshift(1)|Unknown(1)	p.0?(7)|p.I254F(7)|p.I254S(5)|p.I254fs*10(5)|p.I254V(4)|p.I254T(3)|p.L252_I254delLTI(3)|p.I254N(3)|p.I254D(3)|p.T253_I255del(2)|p.I254del(2)|p.I254I(1)|p.?(1)|p.I254fs*7(1)|p.I254fs*91(1)|p.I254_T256del(1)|p.R249_T256delRPILTIIT(1)	haematopoietic_and_lymphoid_tissue(9)|large_intestine(7)|bone(4)|central_nervous_system(3)|stomach(2)|oesophagus(2)|breast(2)|ovary(2)|endometrium(1)|skin(1)|lung(1)|liver(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(760-762)ATC>AGC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							148.0	106.0	120.0					17																	7577520		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577520A>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.761T>G	17.37:g.7577520A>C	ENSP00000269305:p.Ile254Ser	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.I254S|TP53_uc002gih.2_Missense_Mutation_p.I254S|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.I122S|TP53_uc010cng.1_Missense_Mutation_p.I122S|TP53_uc002gii.1_Missense_Mutation_p.I122S|TP53_uc010cnh.1_Missense_Mutation_p.I254S|TP53_uc010cni.1_Missense_Mutation_p.I254S|TP53_uc002gij.2_Missense_Mutation_p.I254S|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.I161S|TP53_uc002gio.2_Missense_Mutation_p.I122S	p.I254S	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	955	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	254		I -> L (in a sporadic cancer; somatic mutation).|I -> D (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|I -> F (in a sporadic cancer; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in sporadic cancers; somatic mutation).|I -> M (in a sporadic cancer; somatic mutation).	|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (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.761T>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	17.59	3.426944	0.62733	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D;D	0.99841	-7.09;-7.09;-7.09;-7.09;-7.09;-7.09;-7.09	4.62	4.62	0.57501	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	0.99771	0.9906	M	0.84219	2.685	0.80722	D	1	D;P;D;D;D	0.89917	1.0;0.951;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.968;1.0;1.0;0.997	D	0.96936	0.9684	10	0.87932	D	0	-30.4212	12.3101	0.54924	1.0:0.0:0.0:0.0	.	254;254;254;254;254	P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;P53_HUMAN;.;.	S	254;254;254;254;254;254;243;122	ENSP00000410739:I254S;ENSP00000352610:I254S;ENSP00000269305:I254S;ENSP00000398846:I254S;ENSP00000391127:I254S;ENSP00000391478:I254S;ENSP00000425104:I122S	ENSP00000269305:I254S	I	-	2	0	TP53	7518245	1.000000	0.71417	1.000000	0.80357	0.372000	0.29890	9.087000	0.94110	2.074000	0.62210	0.379000	0.24179	ATC		0.587	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
DHRS11	79154	broad.mit.edu	37	17	34951507	34951507	+	Missense_Mutation	SNP	G	G	A	rs148449399		TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr17:34951507G>A	ENST00000251312.5	+	2	466	c.254G>A	c.(253-255)cGt>cAt	p.R85H	DHRS11_ENST00000394445.1_3'UTR|DHRS11_ENST00000590554.1_Missense_Mutation_p.R6H	NM_024308.3	NP_077284.2	Q6UWP2	DHR11_HUMAN	dehydrogenase/reductase (SDR family) member 11	85						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			endometrium(1)|lung(4)	5						TCAGCTATCCGTTCTCAGCAC	0.537																																						uc002hnd.2																			0					0						c.(253-255)CGT>CAT		short-chain dehydrogenase/reductase precursor		G	HIS/ARG	0,4406		0,0,2203	154.0	131.0	139.0		254	6.0	1.0	17	dbSNP_134	139	1,8599	1.2+/-3.3	0,1,4299	no	missense	DHRS11	NM_024308.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	85/261	34951507	1,13005	2203	4300	6503	SO:0001583	missense	79154					extracellular region	binding|oxidoreductase activity	g.chr17:34951507G>A		CCDS11315.2	17q12	2014-05-06			ENSG00000108272	ENSG00000278535		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	28639	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 24C, member 1"""					12975309, 19027726	Standard	NM_024308		Approved	MGC4172, SDR24C1	uc002hnd.3	Q6UWP2	OTTHUMG00000188442	ENST00000251312.5:c.254G>A	17.37:g.34951507G>A	ENSP00000251312:p.Arg85His						p.R85H	NM_024308	NP_077284	Q6UWP2	DHR11_HUMAN			2	468	+			85					B2RDZ3|Q9BUC7|Q9H674	Missense_Mutation	SNP	ENST00000251312.5	37	c.254G>A	CCDS11315.2	.	.	.	.	.	.	.	.	.	.	G	22.3	4.272454	0.80580	0.0	1.16E-4	ENSG00000108272	ENST00000251312;ENST00000394445	D	0.88354	-2.37	5.97	5.97	0.96955	NAD(P)-binding domain (1);	0.102047	0.64402	D	0.000004	D	0.86539	0.5957	L	0.54323	1.7	0.31151	N	0.705457	P	0.49090	0.919	B	0.43413	0.419	D	0.87444	0.2397	10	0.51188	T	0.08	-20.1107	10.8236	0.46619	0.1433:0.0:0.8567:0.0	.	85	Q6UWP2	DHR11_HUMAN	H	85	ENSP00000251312:R85H	ENSP00000251312:R85H	R	+	2	0	DHRS11	32025620	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	3.335000	0.52105	2.828000	0.97474	0.655000	0.94253	CGT		0.537	DHRS11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256681.2	NM_024308	
LAMA3	3909	broad.mit.edu	37	18	21511114	21511114	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr18:21511114C>T	ENST00000313654.9	+	65	8766	c.8525C>T	c.(8524-8526)aCg>aTg	p.T2842M	LAMA3_ENST00000587184.1_Missense_Mutation_p.T1177M|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000399516.3_Missense_Mutation_p.T2786M|LAMA3_ENST00000269217.6_Missense_Mutation_p.T1233M	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2842	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					TCTCCACAGACGTATATGGAT	0.428																																						uc002kuq.2																			0				ovary(8)|skin(2)|central_nervous_system(1)	11						c.(8524-8526)ACG>ATG		laminin alpha 3 subunit isoform 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						110.0	110.0	110.0					18																	21511114		2203	4300	6503	SO:0001583	missense	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21511114C>T	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.8525C>T	18.37:g.21511114C>T	ENSP00000324532:p.Thr2842Met					LAMA3_uc002kur.2_Missense_Mutation_p.T2786M|LAMA3_uc002kus.3_Missense_Mutation_p.T1233M|LAMA3_uc002kut.3_Missense_Mutation_p.T1177M	p.T2842M	NM_198129	NP_937762	Q16787	LAMA3_HUMAN			65	8611	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		2842			Laminin G-like 3.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	c.8525C>T	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.124619	0.56613	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000269217	T;T;T	0.78481	-1.18;-1.18;-1.18	5.43	4.5	0.54988	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	D	0.86024	0.5834	M	0.78049	2.395	0.26285	N	0.978217	D;D;D;D	0.89917	1.0;1.0;0.995;0.999	D;D;D;D	0.74674	0.978;0.984;0.912;0.912	T	0.76173	-0.3056	9	0.32370	T	0.25	.	10.6433	0.45604	0.191:0.809:0.0:0.0	.	1177;1233;2786;2842	Q6VU69;B0YJ33;Q6VU67;Q16787	.;.;.;LAMA3_HUMAN	M	2842;2786;1233	ENSP00000324532:T2842M;ENSP00000382432:T2786M;ENSP00000269217:T1233M	ENSP00000269217:T1233M	T	+	2	0	LAMA3	19765112	0.349000	0.24870	0.717000	0.30585	0.771000	0.43674	0.494000	0.22467	2.533000	0.85409	0.655000	0.94253	ACG		0.428	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129	
DSC3	1825	broad.mit.edu	37	18	28604418	28604418	+	Missense_Mutation	SNP	A	A	T			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr18:28604418A>T	ENST00000360428.4	-	6	752	c.672T>A	c.(670-672)gaT>gaA	p.D224E	DSC3_ENST00000434452.1_Missense_Mutation_p.D224E	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	224	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|protein stabilization (GO:0050821)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			GGAGGGGCAGATCTGCTGAAT	0.398																																						uc002kwj.3																			0				ovary(2)|skin(2)	4						c.(670-672)GAT>GAA		desmocollin 3 isoform Dsc3a preproprotein							71.0	75.0	74.0					18																	28604418		2203	4300	6503	SO:0001583	missense	1825				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding	g.chr18:28604418A>T	X83929	CCDS32810.1	18q12.1	2014-07-30			ENSG00000134762	ENSG00000134762		"""Cadherins / Major cadherins"""	3037	protein-coding gene	gene with protein product		600271		DSC4		7774948, 8486729	Standard	NM_001941		Approved	CDHF3, DSC, DSC1, DSC2	uc002kwj.4	Q14574	OTTHUMG00000179622	ENST00000360428.4:c.672T>A	18.37:g.28604418A>T	ENSP00000353608:p.Asp224Glu					DSC3_uc002kwi.3_Missense_Mutation_p.D224E	p.D224E	NM_001941	NP_001932	Q14574	DSC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.125)		6	827	-			224			Cadherin 1.|Extracellular (Potential).		A6NN35|Q14200|Q9HAZ9	Missense_Mutation	SNP	ENST00000360428.4	37	c.672T>A	CCDS32810.1	.	.	.	.	.	.	.	.	.	.	A	0.004	-2.290885	0.00248	.	.	ENSG00000134762	ENST00000360428;ENST00000434452	T;T	0.59772	0.24;0.24	4.9	0.133	0.14766	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.21145	0.0509	N	0.00960	-1.095	0.25493	N	0.987624	B;B	0.23854	0.092;0.025	B;B	0.33339	0.162;0.03	T	0.36601	-0.9741	9	0.02654	T	1	.	2.9157	0.05751	0.2124:0.15:0.4892:0.1484	.	224;224	Q14574;Q14574-2	DSC3_HUMAN;.	E	224	ENSP00000353608:D224E;ENSP00000392068:D224E	ENSP00000353608:D224E	D	-	3	2	DSC3	26858416	0.006000	0.16342	0.073000	0.20177	0.007000	0.05969	-0.069000	0.11542	-0.048000	0.13401	-0.899000	0.02877	GAT		0.398	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447384.1	NM_001941, NM_024423	
GNA15	2769	broad.mit.edu	37	19	3151776	3151776	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr19:3151776G>A	ENST00000262958.3	+	4	815	c.557G>A	c.(556-558)cGc>cAc	p.R186H	AC005264.2_ENST00000587587.1_RNA	NM_002068.2	NP_002059.2	P30679	GNA15_HUMAN	guanine nucleotide binding protein (G protein), alpha 15 (Gq class)	186					activation of phospholipase C activity (GO:0007202)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.R186H(1)		large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		CTCCGCAGCCGCATGCCCACC	0.647																																						uc002lxf.2																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(556-558)CGC>CAC		guanine nucleotide binding protein (G protein),							116.0	99.0	105.0					19																	3151776		2203	4300	6503	SO:0001583	missense	2769				activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr19:3151776G>A		CCDS12104.1	19p13.3	2008-07-16				ENSG00000060558			4383	protein-coding gene	gene with protein product		139314				1302014	Standard	NM_002068		Approved	GNA16	uc002lxf.2	P30679		ENST00000262958.3:c.557G>A	19.37:g.3151776G>A	ENSP00000262958:p.Arg186His						p.R186H	NM_002068	NP_002059	P30679	GNA15_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)	4	815	+		Hepatocellular(1079;0.137)	186			GTP (By similarity).		E9KL40|E9KL47|O75247|Q53XK2	Missense_Mutation	SNP	ENST00000262958.3	37	c.557G>A	CCDS12104.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.974513	0.92919	.	.	ENSG00000060558	ENST00000262958	T	0.65916	-0.18	4.59	4.59	0.56863	G protein alpha subunit, helical insertion (1);	0.000000	0.85682	U	0.000000	D	0.84202	0.5420	H	0.94925	3.6	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.89005	0.3424	10	0.87932	D	0	.	14.9063	0.70721	0.0:0.0:1.0:0.0	.	186	P30679	GNA15_HUMAN	H	186	ENSP00000262958:R186H	ENSP00000262958:R186H	R	+	2	0	GNA15	3102776	0.993000	0.37304	1.000000	0.80357	0.946000	0.59487	5.184000	0.65070	2.093000	0.63338	0.546000	0.68486	CGC		0.647	GNA15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452320.2	NM_002068	
ANKRD24	170961	broad.mit.edu	37	19	4207777	4207777	+	Splice_Site	SNP	G	G	A			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr19:4207777G>A	ENST00000600132.1	+	10	920		c.e10-1		RN7SL84P_ENST00000578969.1_RNA|ANKRD24_ENST00000262970.5_Splice_Site|ANKRD24_ENST00000318934.4_Splice_Site	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24											endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		TCCCCTGGTAGGACGGCCCTG	0.682											OREG0025162	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010dtt.1																			0					0						c.e10-1		ankyrin repeat domain 24							16.0	17.0	17.0					19																	4207777		1928	4114	6042	SO:0001630	splice_region_variant	170961							g.chr19:4207777G>A	AB075861	CCDS45925.1	19p13.3	2013-01-10				ENSG00000089847		"""Ankyrin repeat domain containing"""	29424	protein-coding gene	gene with protein product						11853319	Standard	NM_133475		Approved	KIAA1981	uc010dtt.1	Q8TF21		ENST00000600132.1:c.645-1G>A	19.37:g.4207777G>A			OREG0025162	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	617	ANKRD24_uc002lzs.2_Splice_Site_p.R186_splice|ANKRD24_uc002lzt.2_Splice_Site_p.R187_splice	p.R215_splice	NM_133475	NP_597732	Q8TF21	ANR24_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)	10	921	+								O75268|O95781	Splice_Site	SNP	ENST00000600132.1	37	c.645_splice	CCDS45925.1	.	.	.	.	.	.	.	.	.	.	G	18.19	3.568342	0.65651	.	.	ENSG00000089847	ENST00000318934;ENST00000262970	.	.	.	4.86	4.86	0.63082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.529	0.61611	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ANKRD24	4158777	1.000000	0.71417	0.985000	0.45067	0.940000	0.58332	8.095000	0.89535	2.262000	0.75019	0.456000	0.33151	.		0.682	ANKRD24-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458188.1	XM_114000	Intron
CACNA1A	773	broad.mit.edu	37	19	13355996	13355996	+	Splice_Site	SNP	C	C	T			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr19:13355996C>T	ENST00000360228.5	-	31	4949	c.4950G>A	c.(4948-4950)ggG>ggA	p.G1650G	CACNA1A_ENST00000574822.1_5'UTR|CACNA1A_ENST00000573710.2_Splice_Site_p.G1651G	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1651					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	GGAGACTTACCCCAAACTCAG	0.597																																						uc010dze.2																			0				large_intestine(2)	2						c.(4951-4953)GGG>GGA		calcium channel, alpha 1A subunit isoform 3	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						90.0	93.0	92.0					19																	13355996		2014	4170	6184	SO:0001630	splice_region_variant	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13355996C>T	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.4950+1G>A	19.37:g.13355996C>T						CACNA1A_uc010xnd.1_Silent_p.G356G|CACNA1A_uc002mwx.3_Silent_p.G356G|CACNA1A_uc010dzc.2_Silent_p.G1176G|CACNA1A_uc002mwy.3_Silent_p.G1650G|CACNA1A_uc010xne.1_Silent_p.G1179G|CACNA1A_uc002mwv.3_Silent_p.G167G	p.G1651G	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		31	5189	-			1651	G -> GNP (in Ref. 1; AAB61613/AAB61612).		Extracellular (Potential).|IV.		J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Silent	SNP	ENST00000360228.5	37	c.4953G>A	CCDS45998.1																																																																																				0.597	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068	Silent
ATP4A	495	broad.mit.edu	37	19	36051416	36051416	+	Silent	SNP	G	G	A	rs149880813		TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr19:36051416G>A	ENST00000262623.3	-	6	664	c.636C>T	c.(634-636)gcC>gcT	p.A212A		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	212					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	TGCGGATGTCGGCGGGCACTC	0.622																																						uc002oal.1																			0				ovary(1)	1						c.(634-636)GCC>GCT		hydrogen/potassium-exchanging ATPase 4A	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)			1,4405	2.1+/-5.4	0,1,2202	60.0	55.0	57.0		636	-6.2	0.3	19	dbSNP_134	57	0,8600		0,0,4300	no	coding-synonymous	ATP4A	NM_000704.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		212/1036	36051416	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	495				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	g.chr19:36051416G>A		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"""ATPases / P-type"""	819	protein-coding gene	gene with protein product	"""gastric H,K-ATPase alpha subunit"", ""H(+)-K(+)-ATPase alpha subunit"", ""proton pump"""	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.636C>T	19.37:g.36051416G>A						ATP4A_uc010eee.1_5'Flank	p.A212A	NM_000704	NP_000695	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		6	665	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		212			Cytoplasmic (Potential).		O00738	Silent	SNP	ENST00000262623.3	37	c.636C>T	CCDS12467.1																																																																																				0.622	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704	
EPS8L1	54869	broad.mit.edu	37	19	55593671	55593671	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr19:55593671C>T	ENST00000201647.6	+	11	1075	c.1019C>T	c.(1018-1020)cCc>cTc	p.P340L	EPS8L1_ENST00000588359.1_Intron|EPS8L1_ENST00000586329.1_Missense_Mutation_p.P322L|EPS8L1_ENST00000540810.1_Missense_Mutation_p.P276L|EPS8L1_ENST00000245618.5_Missense_Mutation_p.P213L|EPS8L1_ENST00000592824.1_3'UTR	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	340					positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|T cell receptor binding (GO:0042608)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		ATCGCCGACCCCTCCTCTCCG	0.731																																					Ovarian(149;255 1863 3636 27051 29647)	uc002qis.3																			0					0						c.(1018-1020)CCC>CTC		epidermal growth factor receptor pathway							16.0	18.0	17.0					19																	55593671		2200	4293	6493	SO:0001583	missense	54869					cytoplasm		g.chr19:55593671C>T	AK057052	CCDS12914.1, CCDS12915.1	19q13.42	2008-02-05				ENSG00000131037			21295	protein-coding gene	gene with protein product		614987				12620401	Standard	NM_133180		Approved	FLJ20258, DRC3, MGC23164, MGC4642	uc002qis.4	Q8TE68		ENST00000201647.6:c.1019C>T	19.37:g.55593671C>T	ENSP00000201647:p.Pro340Leu					EPS8L1_uc010ess.1_Missense_Mutation_p.P322L|EPS8L1_uc010est.1_Missense_Mutation_p.P340L|EPS8L1_uc010yfr.1_Missense_Mutation_p.P276L|EPS8L1_uc010esu.1_RNA|EPS8L1_uc002qiu.2_Missense_Mutation_p.P213L|EPS8L1_uc002qiv.2_5'UTR|EPS8L1_uc002qiw.2_Missense_Mutation_p.P87L	p.P340L	NM_133180	NP_573441	Q8TE68	ES8L1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)	11	1123	+			340					Q71RE2|Q8NC10|Q96BB7|Q9BSQ2|Q9GZQ2|Q9NXH0	Missense_Mutation	SNP	ENST00000201647.6	37	c.1019C>T	CCDS12914.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.306219	0.81247	.	.	ENSG00000131037	ENST00000310075;ENST00000201647;ENST00000540810;ENST00000245618	T;T;T	0.59772	0.24;0.24;0.24	3.96	2.87	0.33458	.	0.064517	0.64402	D	0.000006	T	0.75451	0.3851	M	0.85945	2.785	0.80722	D	1	P;P;D;D;D	0.89917	0.889;0.932;1.0;1.0;1.0	P;P;D;D;D	0.97110	0.527;0.719;1.0;1.0;0.999	T	0.78071	-0.2347	10	0.87932	D	0	-20.55	10.5092	0.44851	0.1957:0.8043:0.0:0.0	.	276;322;87;213;340	B4DKV7;Q8TE68-3;Q8TE68-4;Q8TE68-2;Q8TE68	.;.;.;.;ES8L1_HUMAN	L	322;340;276;213	ENSP00000201647:P340L;ENSP00000437541:P276L;ENSP00000245618:P213L	ENSP00000201647:P340L	P	+	2	0	EPS8L1	60285483	1.000000	0.71417	0.998000	0.56505	0.960000	0.62799	6.554000	0.73923	0.952000	0.37798	0.491000	0.48974	CCC		0.731	EPS8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451713.1	NM_017729	
ZFP28	140612	broad.mit.edu	37	19	57066095	57066095	+	Missense_Mutation	SNP	T	T	G			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr19:57066095T>G	ENST00000301318.3	+	8	2012	c.1941T>G	c.(1939-1941)tgT>tgG	p.C647W	AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	647					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)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		CCTATGAATGTAAGGTTTGTA	0.458																																					Ovarian(124;554 1662 19430 21141 52494)	uc002qnj.2																			0				ovary(1)	1						c.(1939-1941)TGT>TGG		zinc finger protein 28							80.0	84.0	83.0					19																	57066095		2203	4300	6503	SO:0001583	missense	140612				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57066095T>G		CCDS12946.1	19q13.43	2013-01-08	2012-11-27			ENSG00000196867		"""Zinc fingers, C2H2-type"", ""-"""	17801	protein-coding gene	gene with protein product			"""zinc finger protein 28 homolog (mouse)"""				Standard	NM_020828		Approved	KIAA1431, mkr5	uc002qnj.3	Q8NHY6		ENST00000301318.3:c.1941T>G	19.37:g.57066095T>G	ENSP00000301318:p.Cys647Trp					uc002qnk.1_Intron	p.C647W	NM_020828	NP_065879	Q8NHY6	ZFP28_HUMAN		GBM - Glioblastoma multiforme(193;0.0302)	8	2012	+		Colorectal(82;0.000256)|Ovarian(87;0.243)	647			C2H2-type 9.		A0JNV6|K7ES88|Q8NHU8|Q9BY30|Q9P2B6	Missense_Mutation	SNP	ENST00000301318.3	37	c.1941T>G	CCDS12946.1	.	.	.	.	.	.	.	.	.	.	T	12.83	2.056006	0.36277	.	.	ENSG00000196867	ENST00000301318	D	0.85258	-1.96	3.78	-0.649	0.11461	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.49916	D	0.000128	D	0.94218	0.8144	H	0.98721	4.31	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91923	0.5549	10	0.87932	D	0	.	8.5672	0.33547	0.0:0.4679:0.0:0.5321	.	647	Q8NHY6	ZFP28_HUMAN	W	647	ENSP00000301318:C647W	ENSP00000301318:C647W	C	+	3	2	ZFP28	61757907	0.000000	0.05858	0.265000	0.24526	0.919000	0.55068	-1.153000	0.03169	-0.078000	0.12730	0.374000	0.22700	TGT		0.458	ZFP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458409.1	NM_020828	
LOC401010	401010	broad.mit.edu	37	2	132201653	132201653	+	IGR	SNP	C	C	G			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr2:132201653C>G								AC073869.19 (35031 upstream) : RP11-109E12.1 (17740 downstream)																							GCCGCCAACACCATCGTCTCT	0.602																																						uc002tst.2																			0					0						c.(349-351)GTG>CTG		SubName: Full=cDNA FLJ12694 fis, clone NT2RP1000358, highly similar to Homo sapiens mRNA; cDNA DKFZp564C186 (from clone DKFZp564C186);																																				SO:0001628	intergenic_variant	401010							g.chr2:132201653C>G																													2.37:g.132201653C>G							p.V117L	NR_002826						1	815	-									Missense_Mutation	SNP		37	c.349G>C																																																																																				0	0.602								
THSD7B	80731	broad.mit.edu	37	2	137814764	137814764	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr2:137814764C>T	ENST00000409968.1	+	3	1092	c.914C>T	c.(913-915)tCg>tTg	p.S305L	THSD7B_ENST00000543459.1_Missense_Mutation_p.S164L|THSD7B_ENST00000272643.3_Missense_Mutation_p.S305L|THSD7B_ENST00000413152.2_Missense_Mutation_p.S274L			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	305						integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CGGCAGGTTTCGTGTACAAGA	0.363																																						uc002tva.1																			0				ovary(4)|central_nervous_system(2)|pancreas(1)	7						c.(820-822)TCG>TTG		thrombospondin, type I, domain containing 7B							31.0	31.0	31.0					2																	137814764		1862	4098	5960	SO:0001583	missense	80731							g.chr2:137814764C>T			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.914C>T	2.37:g.137814764C>T	ENSP00000387145:p.Ser305Leu					THSD7B_uc010zbj.1_RNA|THSD7B_uc002tvb.2_Missense_Mutation_p.S164L	p.S274L	NM_001080427	NP_001073896				BRCA - Breast invasive adenocarcinoma(221;0.19)	2	821	+									Missense_Mutation	SNP	ENST00000409968.1	37	c.821C>T		.	.	.	.	.	.	.	.	.	.	C	9.636	1.137664	0.21123	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152;ENST00000543459	T;T;T;T	0.24350	2.45;2.32;1.93;1.86	5.45	4.57	0.56435	.	0.154834	0.56097	D	0.000023	T	0.15176	0.0366	N	0.22421	0.69	0.29281	N	0.87002	B;B	0.26635	0.155;0.155	B;B	0.23574	0.047;0.047	T	0.15752	-1.0426	10	0.10377	T	0.69	.	11.2412	0.48970	0.0:0.1392:0.7181:0.1427	.	305;274	Q9C0I4;C9JKN6	THS7B_HUMAN;.	L	305;305;274;164	ENSP00000387145:S305L;ENSP00000272643:S305L;ENSP00000413841:S274L;ENSP00000443370:S164L	ENSP00000272643:S305L	S	+	2	0	THSD7B	137531234	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.495000	0.73665	1.446000	0.47643	-0.211000	0.12701	TCG		0.363	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9	
NABP1	64859	broad.mit.edu	37	2	192546717	192546717	+	Silent	SNP	G	G	A			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr2:192546717G>A	ENST00000425611.2	+	3	359	c.276G>A	c.(274-276)agG>agA	p.R92R	NABP1_ENST00000409510.1_Silent_p.R12R|NABP1_ENST00000410026.2_Silent_p.R12R	NM_001031716.2	NP_001026886.1	Q96AH0	SOSB2_HUMAN	nucleic acid binding protein 1	92					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SOSS complex (GO:0070876)	RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)										ATACTGGAAGGGGTGGTGAAC	0.289																																						uc002usx.2																			0					0						c.(274-276)AGG>AGA		oligonucleotide/oligosaccharide-binding fold							61.0	64.0	63.0					2																	192546717		2203	4296	6499	SO:0001819	synonymous_variant	64859				double-strand break repair via homologous recombination|G2/M transition checkpoint|response to ionizing radiation	SOSS complex	single-stranded DNA binding	g.chr2:192546717G>A	BC017114	CCDS33352.1, CCDS58745.1	2q32.3	2012-06-19	2012-06-19	2012-06-19	ENSG00000173559	ENSG00000173559			26232	protein-coding gene	gene with protein product	"""single-stranded DNA-binding protein 2"", ""sensor of single-strand DNA complex subunit B2"""	612103	"""oligonucleotide/oligosaccharide-binding fold containing 2A"""	OBFC2A			Standard	NM_001031716		Approved	FLJ22833, DKFZp667M1322, FLJ13624, MGC111163, SSB2, hSSB2, SOSS-B2	uc002usx.3	Q96AH0	OTTHUMG00000132720	ENST00000425611.2:c.276G>A	2.37:g.192546717G>A						OBFC2A_uc002usw.2_Silent_p.R12R|OBFC2A_uc002usy.2_RNA|OBFC2A_uc002usz.2_RNA|OBFC2A_uc002uta.2_Silent_p.R12R	p.R92R	NM_001031716	NP_001026886	Q96AH0	SOSB2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.061)|Epithelial(96;0.244)		3	756	+			92			OB.		Q658Y8|Q9H5X6	Silent	SNP	ENST00000425611.2	37	c.276G>A	CCDS33352.1	.	.	.	.	.	.	.	.	.	.	G	9.949	1.219531	0.22373	.	.	ENSG00000173559	ENST00000435931	.	.	.	5.76	-3.39	0.04868	.	.	.	.	.	T	0.52208	0.1720	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51741	-0.8667	4	.	.	.	.	9.0969	0.36645	0.5323:0.1007:0.367:0.0	.	.	.	.	E	62	.	.	G	+	2	0	OBFC2A	192254962	1.000000	0.71417	0.991000	0.47740	0.981000	0.71138	1.023000	0.30065	-0.291000	0.09012	-0.880000	0.02959	GGG		0.289	NABP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256060.1	NM_022837	
RPE	6120	broad.mit.edu	37	2	210881273	210881273	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr2:210881273G>A	ENST00000359429.6	+	4	482	c.385G>A	c.(385-387)Gca>Aca	p.A129T	RPE_ENST00000429907.1_Missense_Mutation_p.A61T|RPE_ENST00000438204.2_Missense_Mutation_p.A61T|RPE_ENST00000454822.1_Missense_Mutation_p.A79T|RPE_ENST00000452025.1_Missense_Mutation_p.A129T|RPE_ENST00000445268.1_Missense_Mutation_p.A61T|RPE_ENST00000429921.1_Missense_Mutation_p.A79T|RPE_ENST00000354506.6_Missense_Mutation_p.A121T|RPE_ENST00000436630.2_Missense_Mutation_p.A79T|RPE_ENST00000540255.1_Missense_Mutation_p.A129T|RPE_ENST00000435437.2_Missense_Mutation_p.A129T|RPE_ENST00000411934.2_Missense_Mutation_p.A61T	NM_199229.1	NP_954699.1	Q96AT9	RPE_HUMAN	ribulose-5-phosphate-3-epimerase	129					carbohydrate metabolic process (GO:0005975)|pentose-phosphate shunt (GO:0006098)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|ribulose-phosphate 3-epimerase activity (GO:0004750)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	9				Epithelial(149;0.00241)|Lung(261;0.041)|all cancers(144;0.0429)|LUSC - Lung squamous cell carcinoma(261;0.0431)		TGAGTATTTGGCACCATGGGC	0.398																																						uc002vdn.2																			0					0						c.(385-387)GCA>ACA		ribulose-5-phosphate-3-epimerase isoform 1							111.0	106.0	108.0					2																	210881273		2203	4300	6503	SO:0001583	missense	6120				pentose-phosphate shunt	cytosol	metal ion binding|protein homodimerization activity|ribulose-phosphate 3-epimerase activity	g.chr2:210881273G>A		CCDS2388.1, CCDS42810.1, CCDS63107.1, CCDS63108.1	2q32-q33.3	2012-10-02			ENSG00000197713	ENSG00000197713	5.1.3.1		10293	protein-coding gene	gene with protein product		180480					Standard	NM_199229		Approved		uc002vdn.4	Q96AT9	OTTHUMG00000154690	ENST00000359429.6:c.385G>A	2.37:g.210881273G>A	ENSP00000352401:p.Ala129Thr					RPE_uc002vdm.2_Missense_Mutation_p.A129T|RPE_uc002vdo.2_Missense_Mutation_p.A79T|RPE_uc010zjf.1_Missense_Mutation_p.A129T|RPE_uc002vdp.2_Missense_Mutation_p.A76T|RPE_uc010fup.2_Missense_Mutation_p.A61T|RPE_uc002vdq.2_Missense_Mutation_p.A79T|RPE_uc002vdr.2_Intron	p.A129T	NM_199229	NP_954699	Q96AT9	RPE_HUMAN		Epithelial(149;0.00241)|Lung(261;0.041)|all cancers(144;0.0429)|LUSC - Lung squamous cell carcinoma(261;0.0431)	4	390	+			129					A8K4S0|B4E016|C9JPQ7|O43767|Q53TV9|Q8N215|Q96N34|Q9BSB5	Missense_Mutation	SNP	ENST00000359429.6	37	c.385G>A	CCDS2388.1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.436604	0.62955	.	.	ENSG00000197713	ENST00000359429;ENST00000436630;ENST00000408981;ENST00000454822;ENST00000429921;ENST00000453724;ENST00000540255;ENST00000438265;ENST00000429907;ENST00000441588;ENST00000445268;ENST00000452025;ENST00000438204;ENST00000411934;ENST00000435437;ENST00000354506	.	.	.	5.45	5.45	0.79879	Aldolase-type TIM barrel (1);Ribulose-phosphate binding barrel (1);	0.000000	0.85682	D	0.000000	T	0.51312	0.1667	N	0.25286	0.73	0.80722	D	1	B;B;B;B	0.14012	0.004;0.009;0.003;0.002	B;B;B;B	0.22152	0.038;0.038;0.009;0.004	T	0.41161	-0.9524	9	0.20519	T	0.43	.	19.2659	0.93985	0.0:0.0:1.0:0.0	.	129;121;129;129	B4E016;E7EW52;Q96AT9;C9J9T0	.;.;RPE_HUMAN;.	T	129;79;61;79;79;79;129;79;61;61;61;129;61;61;129;121	.	ENSP00000346501:A121T	A	+	1	0	RPE	210589518	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.777000	0.99008	2.725000	0.93324	0.655000	0.94253	GCA		0.398	RPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336574.2	NM_006916	
NSFL1C	55968	broad.mit.edu	37	20	1424444	1424444	+	Silent	SNP	G	G	A			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr20:1424444G>A	ENST00000216879.4	-	9	1930	c.1063C>T	c.(1063-1065)Ctg>Ttg	p.L355L	NSFL1C_ENST00000476071.1_Silent_p.L357L|NSFL1C_ENST00000381658.4_Silent_p.L244L|NSFL1C_ENST00000353088.2_Silent_p.L324L|NSFL1C_ENST00000461211.1_5'UTR|NSFL1C_ENST00000350991.4_Silent_p.L357L	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)	355	UBX. {ECO:0000255|PROSITE- ProRule:PRU00215}.					chromosome (GO:0005694)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						GCTTCCTTCAGGGTCTGGCTC	0.582																																						uc002wfc.2																			0					0						c.(1063-1065)CTG>TTG		p47 protein isoform a							78.0	69.0	72.0					20																	1424444		2203	4300	6503	SO:0001819	synonymous_variant	55968					chromosome|Golgi stack|nucleus	lipid binding|protein binding	g.chr20:1424444G>A	AF112211	CCDS13015.1, CCDS13016.1, CCDS56175.1	20p13	2011-06-28			ENSG00000088833	ENSG00000088833		"""UBX domain containing"""	15912	protein-coding gene	gene with protein product	"""SHP1 homolog (S. cerevisiae)"", ""UBX domain protein 2C"""	606610				11042152	Standard	NM_016143		Approved	dJ776F14.1, p47, UBXD10, UBX1, UBXN2C	uc002wfc.3	Q9UNZ2	OTTHUMG00000031665	ENST00000216879.4:c.1063C>T	20.37:g.1424444G>A						NSFL1C_uc002wfd.2_Silent_p.L244L|NSFL1C_uc002wfe.2_Silent_p.L324L|NSFL1C_uc002wff.2_RNA|NSFL1C_uc010gag.2_Silent_p.L121L	p.L355L	NM_016143	NP_057227	Q9UNZ2	NSF1C_HUMAN			9	2011	-			355			UBX.		A2A2L1|B2RD74|Q5JXA4|Q5JXA5|Q7Z533|Q9H102|Q9NVL9|Q9UI06	Silent	SNP	ENST00000216879.4	37	c.1063C>T	CCDS13015.1																																																																																				0.582	NSFL1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077525.2	NM_016143	
NISCH	11188	broad.mit.edu	37	3	52521429	52521440	+	In_Frame_Del	DEL	GAGGAGGAGGAA	GAGGAGGAGGAA	-			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr3:52521429_52521440delGAGGAGGAGGAA	ENST00000479054.1	+	17	1993_2004	c.1921_1932delGAGGAGGAGGAA	c.(1921-1932)gaggaggaggaadel	p.EEEE641del	NISCH_ENST00000345716.4_In_Frame_Del_p.EEEE641del			Q9Y2I1	NISCH_HUMAN	nischarin	641	Glu-rich.|Interaction with PAK1. {ECO:0000250}.|Necessary for homooligomerization and targeting to endosomes.				actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|glucose metabolic process (GO:0006006)|negative regulation of cell migration (GO:0030336)|norepinephrine secretion (GO:0048243)|Rac protein signal transduction (GO:0016601)|regulation of blood pressure (GO:0008217)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled amine receptor activity (GO:0008227)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	Tizanidine(DB00697)	ggaggaggatgaggaggaggaagaagaggagg	0.651																																						uc011beg.1																			0				ovary(3)|central_nervous_system(1)	4						c.(1921-1932)GAGGAGGAGGAAdel		nischarin																																				SO:0001651	inframe_deletion	11188				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity	g.chr3:52521429_52521440delGAGGAGGAGGAA	AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322			18006	protein-coding gene	gene with protein product	"""imidazoline receptor candidate"", ""I-1 receptor candidate protein"", ""imidazoline receptor antisera selected"""	615507				11912194, 10882231	Standard	NM_007184		Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.1921_1932delGAGGAGGAGGAA	3.37:g.52521429_52521440delGAGGAGGAGGAA	ENSP00000418232:p.Glu641_Glu644del					NISCH_uc003ded.3_In_Frame_Del_p.EEEE641del|NISCH_uc003dee.3_In_Frame_Del_p.EEEE130del|NISCH_uc003deg.1_RNA	p.EEEE641del	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	17	1993_2004	+			641_644			Necessary for homooligomerization and targeting to endosomes.|Potential.|Glu-rich.|Interaction with PAK1 (By similarity).		C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	In_Frame_Del	DEL	ENST00000479054.1	37	c.1921_1932delGAGGAGGAGGAA	CCDS33767.1																																																																																				0.651	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351357.1	NM_007184	
MAN2B2	23324	broad.mit.edu	37	4	6598876	6598876	+	Missense_Mutation	SNP	G	G	A	rs372535950		TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr4:6598876G>A	ENST00000285599.3	+	8	1130	c.1094G>A	c.(1093-1095)cGc>cAc	p.R365H	MAN2B2_ENST00000504248.1_Missense_Mutation_p.R314H	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	365			R -> C (in dbSNP:rs6858328).		mannose metabolic process (GO:0006013)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						TACACGTCCCGCAGCTCACTG	0.632																																						uc003gjf.1																			0				ovary(2)	2						c.(1093-1095)CGC>CAC		mannosidase, alpha, class 2B, member 2		G	HIS/ARG	0,4406		0,0,2203	90.0	100.0	97.0		1094	2.5	0.0	4		97	1,8599	1.2+/-3.3	0,1,4299	no	missense	MAN2B2	NM_015274.1	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	365/1010	6598876	1,13005	2203	4300	6503	SO:0001583	missense	23324				mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding	g.chr4:6598876G>A	BC033307	CCDS33951.1	4p16.2	2005-11-09			ENSG00000013288	ENSG00000013288			29623	protein-coding gene	gene with protein product	"""core-specific lysosomal alpha-1,6-Mannosidase"""					10231032, 16115860	Standard	XR_241647		Approved	KIAA0935	uc003gjf.1	Q9Y2E5	OTTHUMG00000160073	ENST00000285599.3:c.1094G>A	4.37:g.6598876G>A	ENSP00000285599:p.Arg365His					MAN2B2_uc003gje.1_Missense_Mutation_p.R365H|MAN2B2_uc011bwf.1_Missense_Mutation_p.R314H	p.R365H	NM_015274	NP_056089	Q9Y2E5	MA2B2_HUMAN			8	1130	+			365					Q66MP2|Q86T67	Missense_Mutation	SNP	ENST00000285599.3	37	c.1094G>A	CCDS33951.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.85|18.85	3.711526|3.711526	0.68730|0.68730	0.0|0.0	1.16E-4|1.16E-4	ENSG00000013288|ENSG00000013288	ENST00000505907|ENST00000285599;ENST00000504248	.|T;T	.|0.80033	.|-1.33;-1.33	5.13|5.13	2.46|2.46	0.29980|0.29980	.|Glycoside hydrolase, family 38, central domain (2);	.|0.289069	.|0.36628	.|N	.|0.002483	D|D	0.87034|0.87034	0.6077|0.6077	M|M	0.91140|0.91140	3.18|3.18	0.46849|0.46849	D|D	0.99922|0.99922	.|P;P;D	.|0.56746	.|0.938;0.938;0.977	.|P;P;P	.|0.52554	.|0.494;0.494;0.702	D|D	0.86504|0.86504	0.1805|0.1805	5|10	.|0.66056	.|D	.|0.02	-15.0421|-15.0421	10.053|10.053	0.42228|0.42228	0.2009:0.0:0.7991:0.0|0.2009:0.0:0.7991:0.0	.|.	.|314;365;365	.|E9PCD7;Q9Y2E5;Q9Y2E5-2	.|.;MA2B2_HUMAN;.	T|H	364|365;314	.|ENSP00000285599:R365H;ENSP00000423129:R314H	.|ENSP00000285599:R365H	A|R	+|+	1|2	0|0	MAN2B2|MAN2B2	6649777|6649777	1.000000|1.000000	0.71417|0.71417	0.043000|0.043000	0.18650|0.18650	0.792000|0.792000	0.44763|0.44763	4.183000|4.183000	0.58317|0.58317	0.187000|0.187000	0.20147|0.20147	0.549000|0.549000	0.68633|0.68633	GCA|CGC		0.632	MAN2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359106.2	NM_015274	
KIT	3815	broad.mit.edu	37	4	55561826	55561826	+	Missense_Mutation	SNP	T	T	A			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr4:55561826T>A	ENST00000288135.5	+	2	313	c.216T>A	c.(214-216)gaT>gaA	p.D72E		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	72	Ig-like C2-type 1.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	AGATCCTGGATGAAACGAATG	0.463		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																													uc010igr.2		1	yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	Mis|O	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	Piebald trait	"""L, M, O, E"""		GIST|epithelioma	GIST|AML|TGCT|mastocytosis|mucosal melanoma		0		p.571_572>GE(1)		soft_tissue(3273)|haematopoietic_and_lymphoid_tissue(1572)|skin(99)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(11)|thymus(6)|lung(6)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1)	5118						c.(214-216)GAT>GAA		v-kit Hardy-Zuckerman 4 feline sarcoma viral	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						111.0	103.0	106.0					4																	55561826		2203	4300	6503	SO:0001583	missense	3815	Mast_Cell_disease_Familial_Clustering_of|Piebaldism|Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Gastrointestinal_Stromal_Tumors	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	g.chr4:55561826T>A	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6342	protein-coding gene	gene with protein product		164920	"""piebald trait"""	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.216T>A	4.37:g.55561826T>A	ENSP00000288135:p.Asp72Glu					KIT_uc010igs.2_Missense_Mutation_p.D72E	p.D72E	NM_000222	NP_000213	P10721	KIT_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	2	303	+	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		72			Extracellular (Potential).|Ig-like C2-type 1.		B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	c.216T>A	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	T	1.079	-0.667599	0.03428	.	.	ENSG00000157404	ENST00000288135;ENST00000412167;ENST00000536403	T;T	0.55234	0.53;0.53	5.2	1.44	0.22558	Immunoglobulin-like fold (1);	1.165840	0.06304	N	0.701394	T	0.34250	0.0891	N	0.22421	0.69	0.09310	N	1	B;B	0.12013	0.001;0.005	B;B	0.19148	0.007;0.024	T	0.19353	-1.0308	10	0.02654	T	1	.	8.2602	0.31779	0.0:0.321:0.0:0.679	.	72;72	P10721-2;P10721	.;KIT_HUMAN	E	72	ENSP00000288135:D72E;ENSP00000390987:D72E	ENSP00000288135:D72E	D	+	3	2	KIT	55256583	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	0.035000	0.13797	0.116000	0.18110	-0.250000	0.11733	GAT		0.463	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1		
BANK1	55024	broad.mit.edu	37	4	102816534	102816534	+	Missense_Mutation	SNP	T	T	C			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr4:102816534T>C	ENST00000322953.4	+	6	1250	c.976T>C	c.(976-978)Tct>Cct	p.S326P	BANK1_ENST00000444316.2_Missense_Mutation_p.S296P|BANK1_ENST00000504592.1_Missense_Mutation_p.S311P|BANK1_ENST00000428908.1_Missense_Mutation_p.S193P|BANK1_ENST00000508653.1_Missense_Mutation_p.S193P	NM_017935.4	NP_060405	Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	326	DBB. {ECO:0000255|PROSITE- ProRule:PRU00707}.				B cell activation (GO:0042113)					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		TGAGTTCCAGTCTCTTCAAAC	0.303																																						uc003hvy.3																			0				ovary(2)|skin(1)	3						c.(976-978)TCT>CCT		B-cell scaffold protein with ankyrin repeats 1							81.0	84.0	83.0					4																	102816534		2201	4294	6495	SO:0001583	missense	55024				B cell activation			g.chr4:102816534T>C	AB063170	CCDS34038.1, CCDS47115.1, CCDS47116.1	4q23	2013-01-11						"""Ankyrin repeat domain containing"""	18233	protein-coding gene	gene with protein product		610292				11782428, 21208380, 21480188	Standard	NM_017935		Approved	BANK, FLJ20706	uc003hvy.4	Q8NDB2		ENST00000322953.4:c.976T>C	4.37:g.102816534T>C	ENSP00000320509:p.Ser326Pro					BANK1_uc003hvx.3_Missense_Mutation_p.S311P|BANK1_uc010ill.2_Missense_Mutation_p.S193P|BANK1_uc003hvz.3_Missense_Mutation_p.S296P	p.S326P	NM_017935	NP_060405	Q8NDB2	BANK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)	6	1250	+		Hepatocellular(203;0.217)	326			DBB.		A8K7W8|B0F3S2|Q8N5K8|Q8NB56|Q8WYN5|Q9NWP2	Missense_Mutation	SNP	ENST00000322953.4	37	c.976T>C	CCDS34038.1	.	.	.	.	.	.	.	.	.	.	T	7.755	0.704112	0.15172	.	.	ENSG00000153064	ENST00000504592;ENST00000322953;ENST00000428908;ENST00000508653;ENST00000444316	T;T;T;T;T	0.18502	2.89;2.89;2.21;2.21;2.89	4.94	0.371	0.16168	DBB domain (1);	1.390810	0.04523	N	0.385036	T	0.11239	0.0274	L	0.27053	0.805	0.09310	N	1	B;B;B	0.09022	0.002;0.002;0.002	B;B;B	0.10450	0.005;0.003;0.003	T	0.32587	-0.9901	10	0.33940	T	0.23	.	1.6861	0.02842	0.1754:0.1059:0.1571:0.5616	.	193;326;311	Q8NDB2-4;Q8NDB2;Q8NDB2-2	.;BANK1_HUMAN;.	P	311;326;193;193;296	ENSP00000421443:S311P;ENSP00000320509:S326P;ENSP00000412748:S193P;ENSP00000422314:S193P;ENSP00000388817:S296P	ENSP00000320509:S326P	S	+	1	0	BANK1	103035557	0.000000	0.05858	0.003000	0.11579	0.945000	0.59286	-1.052000	0.03503	0.228000	0.21019	0.477000	0.44152	TCT		0.303	BANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363161.1	NM_017935	
OTUD4	54726	broad.mit.edu	37	4	146059760	146059760	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr4:146059760G>A	ENST00000447906.2	-	21	2354	c.2167C>T	c.(2167-2169)Cct>Tct	p.P723S	OTUD4_ENST00000454497.2_Missense_Mutation_p.P658S|OTUD4_ENST00000455611.2_Intron			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	723					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					TGGTGCAGAGGGTACAGGTAA	0.488																																						uc003ika.3																			0				ovary(2)|breast(1)	3						c.(1972-1974)CCT>TCT		OTU domain containing 4 protein isoform 3							57.0	62.0	60.0					4																	146059760		2203	4300	6503	SO:0001583	missense	54726						protein binding	g.chr4:146059760G>A		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.2167C>T	4.37:g.146059760G>A	ENSP00000395487:p.Pro723Ser					OTUD4_uc003ijz.3_Missense_Mutation_p.P657S	p.P658S	NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN			21	2110	-	all_hematologic(180;0.151)		722					B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Missense_Mutation	SNP	ENST00000447906.2	37	c.1972C>T		.	.	.	.	.	.	.	.	.	.	G	21.5	4.160871	0.78226	.	.	ENSG00000164164	ENST00000454497;ENST00000447906	T;T	0.39056	1.13;1.1	5.93	5.93	0.95920	.	0.000000	0.64402	D	0.000001	T	0.58466	0.2124	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.55921	-0.8064	10	0.54805	T	0.06	-17.5071	20.3363	0.98740	0.0:0.0:1.0:0.0	.	723;722	G3V0I6;Q01804	.;OTUD4_HUMAN	S	658;723	ENSP00000409279:P658S;ENSP00000395487:P723S	ENSP00000395487:P723S	P	-	1	0	OTUD4	146279210	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.159000	0.77483	2.814000	0.96858	0.563000	0.77884	CCT		0.488	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493	
DNAH5	1767	broad.mit.edu	37	5	13841119	13841119	+	Missense_Mutation	SNP	T	T	C			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr5:13841119T>C	ENST00000265104.4	-	34	5709	c.5605A>G	c.(5605-5607)Aca>Gca	p.T1869A		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1869	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCTATCAATGTATTGAGTAGC	0.413									Kartagener syndrome																													uc003jfd.2																			0				ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(5605-5607)ACA>GCA		dynein, axonemal, heavy chain 5							162.0	152.0	155.0					5																	13841119		2203	4300	6503	SO:0001583	missense	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13841119T>C	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.5605A>G	5.37:g.13841119T>C	ENSP00000265104:p.Thr1869Ala						p.T1869A	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			34	5647	-	Lung NSC(4;0.00476)		1869			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.5605A>G	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	T	4.258	0.046843	0.08243	.	.	ENSG00000039139	ENST00000265104	T	0.22945	1.93	5.77	5.77	0.91146	.	0.161473	0.56097	D	0.000036	T	0.22085	0.0532	L	0.52573	1.65	0.40657	D	0.982091	B	0.02656	0.0	B	0.04013	0.001	T	0.08953	-1.0697	10	0.12103	T	0.63	.	11.2002	0.48736	0.0:0.0735:0.0:0.9265	.	1869	Q8TE73	DYH5_HUMAN	A	1869	ENSP00000265104:T1869A	ENSP00000265104:T1869A	T	-	1	0	DNAH5	13894119	1.000000	0.71417	0.020000	0.16555	0.287000	0.27160	4.158000	0.58150	2.203000	0.70933	0.533000	0.62120	ACA		0.413	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	
PRDM9	56979	broad.mit.edu	37	5	23522425	23522425	+	Missense_Mutation	SNP	A	A	G			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr5:23522425A>G	ENST00000296682.3	+	7	703	c.521A>G	c.(520-522)aAg>aGg	p.K174R		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	174					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CTCAGGAAGAAGGAGACTGAA	0.428										HNSCC(3;0.000094)																												uc003jgo.2																			0				ovary(3)|large_intestine(2)|pancreas(1)	6						c.(520-522)AAG>AGG		PR domain containing 9							141.0	144.0	143.0					5																	23522425		1900	4138	6038	SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23522425A>G	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.521A>G	5.37:g.23522425A>G	ENSP00000296682:p.Lys174Arg	HNSCC(3;0.000094)					p.K174R	NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN			7	703	+			174					B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.521A>G	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	A	14.99	2.699305	0.48307	.	.	ENSG00000164256	ENST00000296682	T	0.09255	3.0	3.63	2.44	0.29823	SSXRD motif (1);	.	.	.	.	T	0.12518	0.0304	L	0.29908	0.895	0.09310	N	0.999998	P	0.51449	0.945	P	0.51945	0.685	T	0.14811	-1.0459	9	0.62326	D	0.03	-0.6616	5.9847	0.19428	0.8674:0.0:0.1326:0.0	.	174	Q9NQV7	PRDM9_HUMAN	R	174	ENSP00000296682:K174R	ENSP00000296682:K174R	K	+	2	0	PRDM9	23558182	0.261000	0.24063	0.139000	0.22197	0.010000	0.07245	2.030000	0.41108	0.533000	0.28675	0.433000	0.28618	AAG		0.428	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227	
PIK3R1	5295	broad.mit.edu	37	5	67591121	67591121	+	Nonsense_Mutation	SNP	C	C	T			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr5:67591121C>T	ENST00000521381.1	+	13	2330	c.1714C>T	c.(1714-1716)Cag>Tag	p.Q572*	PIK3R1_ENST00000274335.5_Nonsense_Mutation_p.Q572*|PIK3R1_ENST00000320694.8_Nonsense_Mutation_p.Q272*|PIK3R1_ENST00000336483.5_Nonsense_Mutation_p.Q302*|PIK3R1_ENST00000523872.1_Nonsense_Mutation_p.Q209*|PIK3R1_ENST00000521657.1_Nonsense_Mutation_p.Q572*|PIK3R1_ENST00000396611.1_Nonsense_Mutation_p.Q572*	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	572					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.L570_D578del(1)|p.0?(1)|p.?(1)|p.L570_Q572del(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	AGACCTTATCCAGCTGAGAAA	0.373			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																												uc003jva.2				Rec	yes		5	5q13.1	5295	Mis|F|O	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""			"""E, O"""			gliobastoma|ovarian|colorectal		4	Deletion - In frame(2)|Whole gene deletion(1)|Unknown(1)	p.L570_D578del(1)|p.L570_Q572del(1)|p.?(1)	large_intestine(2)|lung(1)|ovary(1)	endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	101						c.(1714-1716)CAG>TAG		phosphoinositide-3-kinase, regulatory subunit 1	Isoproterenol(DB01064)						144.0	143.0	143.0					5																	67591121		2203	4300	6503	SO:0001587	stop_gained	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67591121C>T	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"""SH2 domain containing"""	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1714C>T	5.37:g.67591121C>T	ENSP00000428056:p.Gln572*	TCGA GBM(4;<1E-08)				PIK3R1_uc003jvb.2_Nonsense_Mutation_p.Q572*|PIK3R1_uc003jvc.2_Nonsense_Mutation_p.Q272*|PIK3R1_uc003jvd.2_Nonsense_Mutation_p.Q302*|PIK3R1_uc003jve.2_Nonsense_Mutation_p.Q251*|PIK3R1_uc011crb.1_Nonsense_Mutation_p.Q242*	p.Q572*	NM_181523	NP_852664	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	13	2274	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	572					B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Nonsense_Mutation	SNP	ENST00000521381.1	37	c.1714C>T	CCDS3993.1	.	.	.	.	.	.	.	.	.	.	C	37	6.632822	0.97722	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000320694;ENST00000336483;ENST00000523872	.	.	.	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-16.797	18.2175	0.89890	0.0:1.0:0.0:0.0	.	.	.	.	X	572;572;572;572;272;302;209	.	ENSP00000274335:Q572X	Q	+	1	0	PIK3R1	67626877	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	7.609000	0.82925	2.601000	0.87937	0.585000	0.79938	CAG		0.373	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504	
FTMT	94033	broad.mit.edu	37	5	121187841	121187841	+	Silent	SNP	C	C	T			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr5:121187841C>T	ENST00000321339.1	+	1	192	c.183C>T	c.(181-183)ccC>ccT	p.P61P		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	61					cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lyase activity (GO:0051349)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of transferase activity (GO:0051347)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		CTACCGGGCCCGCCGCCGGCC	0.736																																						uc003kss.2																			0				ovary(1)	1						c.(181-183)CCC>CCT		ferritin mitochondrial precursor							13.0	15.0	15.0					5																	121187841		2196	4297	6493	SO:0001819	synonymous_variant	94033				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity	g.chr5:121187841C>T	BC034419	CCDS4128.1	5q23.1	2008-02-05			ENSG00000181867	ENSG00000181867			17345	protein-coding gene	gene with protein product		608847				11323407	Standard	NM_177478		Approved	MtF	uc003kss.3	Q8N4E7	OTTHUMG00000128912	ENST00000321339.1:c.183C>T	5.37:g.121187841C>T							p.P61P	NM_177478	NP_803431	Q8N4E7	FTMT_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)	1	192	+		all_cancers(142;0.0124)|Prostate(80;0.0322)	61						Silent	SNP	ENST00000321339.1	37	c.183C>T	CCDS4128.1																																																																																				0.736	FTMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250884.1	NM_177478	
SIMC1	375484	broad.mit.edu	37	5	175717776	175717776	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr5:175717776C>T	ENST00000443967.1	+	4	1599	c.1192C>T	c.(1192-1194)Cca>Tca	p.P398S	SIMC1_ENST00000429602.2_Missense_Mutation_p.P417S|SIMC1_ENST00000341199.6_Intron|SIMC1_ENST00000430704.2_Intron			Q8NDZ2	SIMC1_HUMAN	SUMO-interacting motifs containing 1	398							SUMO polymer binding (GO:0032184)										CATGGAAACCCCAGCCAGAAA	0.517																																						uc003mds.3																			0					0						c.(1192-1194)CCA>TCA		RecName: Full=Uncharacterized protein C5orf25;							58.0	58.0	58.0					5																	175717776		2203	4287	6490	SO:0001583	missense	375484							g.chr5:175717776C>T	BC037298	CCDS4398.2	5q35.2	2013-08-14	2012-11-14	2012-11-14	ENSG00000170085	ENSG00000170085			24779	protein-coding gene	gene with protein product	"""oocyte maturation associated 1"", ""platform element for inhibition of autolytic degradation"""		"""chromosome 5 open reading frame 25"""	C5orf25		23086935, 23707407	Standard	NM_198567		Approved	FLJ44216, OOMA1, PLEIAD	uc003mds.4	Q8NDZ2	OTTHUMG00000130663	ENST00000443967.1:c.1192C>T	5.37:g.175717776C>T	ENSP00000406571:p.Pro398Ser					C5orf25_uc003mdt.3_Intron|C5orf25_uc003mdr.3_Intron|C5orf25_uc011dfk.1_Missense_Mutation_p.P417S	p.P398S			Q8NDZ2	CE025_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.119)	4	1599	+	all_cancers(89;0.00381)|Renal(175;0.000269)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	398					J3KQQ8|Q6NXN8|Q6ZTU4|Q8IZ15	Missense_Mutation	SNP	ENST00000443967.1	37	c.1192C>T		.	.	.	.	.	.	.	.	.	.	C	9.459	1.092588	0.20471	.	.	ENSG00000170085	ENST00000443967;ENST00000429602	T;T	0.28454	2.35;1.61	4.54	3.13	0.36017	.	0.304677	0.23908	N	0.043373	T	0.19644	0.0472	.	.	.	0.21652	N	0.999602	B;B	0.20988	0.035;0.05	B;B	0.20184	0.015;0.028	T	0.15407	-1.0438	9	0.38643	T	0.18	-7.9901	6.2155	0.20653	0.0:0.7955:0.0:0.2045	.	417;398	B4DRM7;Q8NDZ2	.;CE025_HUMAN	S	398;417	ENSP00000406571:P398S;ENSP00000410552:P417S	ENSP00000410552:P417S	P	+	1	0	C5orf25	175650382	0.008000	0.16893	0.570000	0.28473	0.963000	0.63663	0.492000	0.22435	0.662000	0.31006	0.603000	0.83216	CCA		0.517	SIMC1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000253155.2	NM_198567	
RNF130	55819	broad.mit.edu	37	5	179467635	179467635	+	Missense_Mutation	SNP	A	A	T			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr5:179467635A>T	ENST00000261947.4	-	2	658	c.260T>A	c.(259-261)cTg>cAg	p.L87Q	RNF130_ENST00000522208.2_Missense_Mutation_p.L87Q|RNF130_ENST00000521389.1_Missense_Mutation_p.L87Q	NM_001280801.1	NP_001267730.1			ring finger protein 130											breast(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	17	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATCACAGCCCAGATGATCAGC	0.388																																					GBM(24;432 554 38471 39699 51728)	uc003mll.1																			0				lung(2)|ovary(1)	3						c.(259-261)CTG>CAG		ring finger protein 130 precursor							56.0	56.0	56.0					5																	179467635		2203	4300	6503	SO:0001583	missense	55819				apoptosis	cytoplasm|integral to membrane|nucleus	ubiquitin-protein ligase activity|zinc ion binding	g.chr5:179467635A>T	AF155650	CCDS4451.1, CCDS64340.1	5q35.3	2013-01-09			ENSG00000113269	ENSG00000113269		"""RING-type (C3HC4) zinc fingers"""	18280	protein-coding gene	gene with protein product						10806348	Standard	NM_018434		Approved	GP, G1RZFP, GOLIATH	uc003mll.1	Q86XS8	OTTHUMG00000130909	ENST00000261947.4:c.260T>A	5.37:g.179467635A>T	ENSP00000261947:p.Leu87Gln					RNF130_uc003mlm.1_Missense_Mutation_p.L87Q	p.L87Q	NM_018434	NP_060904	Q86XS8	GOLI_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	667	-	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	87			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000261947.4	37	c.260T>A		.	.	.	.	.	.	.	.	.	.	A	7.601	0.672747	0.14776	.	.	ENSG00000113269	ENST00000522208;ENST00000521389;ENST00000261947	T;T;T	0.04015	3.74;3.73;3.73	5.63	5.63	0.86233	.	0.215793	0.40385	N	0.001111	T	0.04318	0.0119	N	0.20401	0.57	0.40366	D	0.979299	B;B	0.15719	0.014;0.001	B;B	0.17722	0.019;0.007	T	0.48445	-0.9035	10	0.14656	T	0.56	.	15.8799	0.79195	1.0:0.0:0.0:0.0	.	104;87	Q59EL1;Q86XS8	.;GOLI_HUMAN	Q	87	ENSP00000429509:L87Q;ENSP00000430237:L87Q;ENSP00000261947:L87Q	ENSP00000261947:L87Q	L	-	2	0	RNF130	179400241	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.408000	0.66368	2.137000	0.66172	0.524000	0.50904	CTG		0.388	RNF130-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000374205.1	NM_018434	
PACRG	135138	broad.mit.edu	37	6	163235309	163235309	+	Nonsense_Mutation	SNP	G	G	A			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr6:163235309G>A	ENST00000337019.3	+	3	511	c.287G>A	c.(286-288)tGg>tAg	p.W96*	PACRG_ENST00000542669.1_3'UTR|PACRG_ENST00000366888.2_Nonsense_Mutation_p.W96*|PACRG_ENST00000366889.2_Nonsense_Mutation_p.W96*	NM_152410.2	NP_689623.2	Q96M98	PACRG_HUMAN	PARK2 co-regulated	96					spermatid development (GO:0007286)	cell body (GO:0044297)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm midpiece (GO:0097225)				endometrium(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)		AAAATCGCCTGGAAGGTAAGT	0.488																																						uc003qua.2																			0					0						c.(286-288)TGG>TAG		parkin co-regulated gene protein isoform 1							84.0	83.0	83.0					6																	163235309		2203	4300	6503	SO:0001587	stop_gained	135138							g.chr6:163235309G>A	AK057286	CCDS5284.1, CCDS43524.1	6q26	2004-07-01			ENSG00000112530	ENSG00000112530			19152	protein-coding gene	gene with protein product		608427				12547187	Standard	NM_001080378		Approved	PARK2CRG, FLJ32724, Glup, HAK005771	uc003qua.3	Q96M98	OTTHUMG00000016116	ENST00000337019.3:c.287G>A	6.37:g.163235309G>A	ENSP00000337946:p.Trp96*					PACRG_uc003qub.2_Nonsense_Mutation_p.W96*|PACRG_uc003quc.2_Nonsense_Mutation_p.W96*	p.W96*	NM_152410	NP_689623	Q96M98	PACRG_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)	3	511	+		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)	96					E1P5B5|Q6IMB8|Q8IZM1|Q8NHP5|Q9H1V9	Nonsense_Mutation	SNP	ENST00000337019.3	37	c.287G>A	CCDS5284.1	.	.	.	.	.	.	.	.	.	.	G	34	5.338925	0.95783	.	.	ENSG00000112530	ENST00000337019;ENST00000366889;ENST00000366888	.	.	.	5.52	5.52	0.82312	.	0.121305	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.5048	19.434	0.94783	0.0:0.0:1.0:0.0	.	.	.	.	X	96	.	ENSP00000337946:W96X	W	+	2	0	PACRG	163155299	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.632000	0.90995	2.590000	0.87494	0.563000	0.77884	TGG		0.488	PACRG-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400424.1	NM_152410	
IL6	3569	broad.mit.edu	37	7	22769182	22769182	+	Missense_Mutation	SNP	A	A	T			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr7:22769182A>T	ENST00000404625.1	+	5	833	c.374A>T	c.(373-375)tAc>tTc	p.Y125F	IL6_ENST00000406575.1_Missense_Mutation_p.Y125F|IL6_ENST00000401630.3_Missense_Mutation_p.Y102F|IL6_ENST00000407492.1_Missense_Mutation_p.Y49F|IL6_ENST00000401651.1_Missense_Mutation_p.Y49F|IL6_ENST00000420258.2_Missense_Mutation_p.Y179F|AC073072.5_ENST00000325042.2_RNA|IL6_ENST00000258743.5_Missense_Mutation_p.Y125F			P05231	IL6_HUMAN	interleukin 6	125					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)	TTTGAGGTATACCTAGAGTAC	0.443																																					Esophageal Squamous(47;342 1214 13936 33513)	uc011jyn.1																			0					0						c.(373-375)TAC>TTC		interleukin 6 precursor	Arsenic trioxide(DB01169)|Bicalutamide(DB01128)|Ginseng(DB01404)|Simvastatin(DB00641)						157.0	155.0	155.0					7																	22769182		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.chr7:22769182A>T	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.374A>T	7.37:g.22769182A>T	ENSP00000385675:p.Tyr125Phe					uc010kun.1_5'Flank|IL6_uc011jyo.1_Missense_Mutation_p.Y125F|IL6_uc011jyp.1_Missense_Mutation_p.Y49F|IL6_uc003svj.3_Missense_Mutation_p.Y125F|IL6_uc011jyq.1_Missense_Mutation_p.Y179F	p.Y125F	NM_000600	NP_000591	P05231	IL6_HUMAN			5	833	+			125					Q9UCU2|Q9UCU3|Q9UCU4	Missense_Mutation	SNP	ENST00000404625.1	37	c.374A>T	CCDS5375.1	.	.	.	.	.	.	.	.	.	.	A	17.39	3.376636	0.61735	.	.	ENSG00000136244	ENST00000404625;ENST00000426291;ENST00000401651;ENST00000258743;ENST00000420258;ENST00000407492;ENST00000401630;ENST00000406575	T;T;T;T;T;T;T;T	0.34472	1.36;1.36;1.36;1.36;1.36;1.36;1.36;1.36	5.87	3.34	0.38264	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.381577	0.30695	N	0.009078	T	0.48021	0.1477	L	0.52364	1.645	0.09310	N	0.999997	D;P;D	0.76494	0.999;0.954;0.999	D;P;D	0.75020	0.985;0.81;0.983	T	0.24048	-1.0171	10	0.72032	D	0.01	-20.1473	7.0568	0.25104	0.7027:0.1516:0.0:0.1457	.	179;125;125	B4DNQ5;B5MC14;P05231	.;.;IL6_HUMAN	F	125;125;49;125;179;49;102;125	ENSP00000385675:Y125F;ENSP00000405150:Y125F;ENSP00000385718:Y49F;ENSP00000258743:Y125F;ENSP00000405994:Y179F;ENSP00000385043:Y49F;ENSP00000384928:Y102F;ENSP00000385227:Y125F	ENSP00000258743:Y125F	Y	+	2	0	IL6	22735707	0.924000	0.31332	0.094000	0.20943	0.010000	0.07245	2.954000	0.49113	1.135000	0.42183	0.533000	0.62120	TAC		0.443	IL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250225.2	NM_000600	
NOD1	10392	broad.mit.edu	37	7	30496383	30496383	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr7:30496383G>A	ENST00000222823.4	-	4	680	c.155C>T	c.(154-156)gCc>gTc	p.A52V	NOD1_ENST00000423334.2_Missense_Mutation_p.A52V	NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	52	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-8 biosynthetic process (GO:0042228)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of tumor necrosis factor production (GO:0032760)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|identical protein binding (GO:0042802)|peptidoglycan binding (GO:0042834)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						CGCATCTTCGGCCGAGAAGTA	0.552																																						uc003tav.2																			0				ovary(1)|skin(1)	2						c.(154-156)GCC>GTC		nucleotide-binding oligomerization domain							128.0	113.0	118.0					7																	30496383		2203	4300	6503	SO:0001583	missense	10392				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|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	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity	g.chr7:30496383G>A	AF126484	CCDS5427.1	7p15-p14	2006-12-08	2006-12-08	2006-12-08	ENSG00000106100	ENSG00000106100		"""Nucleotide-binding domain and leucine rich repeat containing"""	16390	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1"", ""NLR family, CARD domain containing 1"""	605980	"""caspase recruitment domain family, member 4"""	CARD4		10224040, 10329646	Standard	NM_006092		Approved	NLRC1, CLR7.1	uc003tav.3	Q9Y239	OTTHUMG00000023923	ENST00000222823.4:c.155C>T	7.37:g.30496383G>A	ENSP00000222823:p.Ala52Val					NOD1_uc010kvs.2_Missense_Mutation_p.A52V|NOD1_uc003tax.2_RNA|NOD1_uc003tay.2_RNA|NOD1_uc010kvt.2_RNA|NOD1_uc010kvu.2_RNA	p.A52V	NM_006092	NP_006083	Q9Y239	NOD1_HUMAN			4	678	-			52			CARD.		B4DTU3|Q549U4|Q8IWF5	Missense_Mutation	SNP	ENST00000222823.4	37	c.155C>T	CCDS5427.1	.	.	.	.	.	.	.	.	.	.	G	8.759	0.923096	0.18056	.	.	ENSG00000106100	ENST00000222823;ENST00000423334;ENST00000411552;ENST00000419799;ENST00000413433	T;T;T;T;T	0.20598	2.06;2.06;2.06;2.06;2.06	5.8	-2.68	0.06041	DEATH-like (2);Caspase Recruitment (2);	1.162150	0.06142	N	0.672536	T	0.15003	0.0362	L	0.40543	1.245	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.08055	0.002;0.003	T	0.34079	-0.9843	10	0.29301	T	0.29	.	5.4426	0.16517	0.2675:0.0:0.4129:0.3196	.	52;52	B4DTU3;Q9Y239	.;NOD1_HUMAN	V	52	ENSP00000222823:A52V;ENSP00000409416:A52V;ENSP00000396046:A52V;ENSP00000395551:A52V;ENSP00000399505:A52V	ENSP00000222823:A52V	A	-	2	0	NOD1	30462908	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	0.193000	0.17116	-0.408000	0.07565	0.655000	0.94253	GCC		0.552	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250443.2		
ABCA13	154664	broad.mit.edu	37	7	48318026	48318026	+	Missense_Mutation	SNP	C	C	G	rs373658653		TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr7:48318026C>G	ENST00000435803.1	+	18	7259	c.7235C>G	c.(7234-7236)gCt>gGt	p.A2412G		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2412					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CTTGGGTCAGCTCTTCACCTT	0.383																																						uc003toq.2																			0				ovary(5)|central_nervous_system(4)|skin(1)	10						c.(7234-7236)GCT>GGT		ATP binding cassette, sub-family A (ABC1),		C	GLY/ALA	0,3700		0,0,1850	71.0	68.0	69.0		7235	1.9	0.0	7		69	1,8195		0,1,4097	no	missense	ABCA13	NM_152701.3	60	0,1,5947	GG,GC,CC		0.0122,0.0,0.0084	probably-damaging	2412/5059	48318026	1,11895	1850	4098	5948	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48318026C>G	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.7235C>G	7.37:g.48318026C>G	ENSP00000411096:p.Ala2412Gly					ABCA13_uc010kys.1_5'Flank	p.A2412G	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			18	7260	+			2412					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.7235C>G	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	C	13.26	2.183878	0.38609	0.0	1.22E-4	ENSG00000179869	ENST00000435803	T	0.61510	0.1	5.1	1.87	0.25490	.	0.659026	0.13324	N	0.396423	T	0.40222	0.1108	L	0.27053	0.805	0.09310	N	1	P	0.46987	0.888	B	0.42163	0.378	T	0.30707	-0.9969	10	0.72032	D	0.01	.	3.2331	0.06755	0.0:0.4895:0.2236:0.2868	.	2412	Q86UQ4	ABCAD_HUMAN	G	2412	ENSP00000411096:A2412G	ENSP00000411096:A2412G	A	+	2	0	ABCA13	48288572	0.001000	0.12720	0.004000	0.12327	0.210000	0.24377	-0.215000	0.09279	0.565000	0.29255	0.655000	0.94253	GCT		0.383	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701	
RABGEF1	27342	broad.mit.edu	37	7	66240358	66240358	+	Silent	SNP	T	T	C			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr7:66240358T>C	ENST00000284957.5	+	3	401	c.324T>C	c.(322-324)tcT>tcC	p.S108S	KCTD7_ENST00000510829.2_Silent_p.S108S|KCTD7_ENST00000380828.2_Silent_p.S148S|RABGEF1_ENST00000437078.2_Silent_p.S122S|RABGEF1_ENST00000484547.2_3'UTR|RABGEF1_ENST00000450873.2_Silent_p.S108S|KCTD7_ENST00000451741.2_Silent_p.S108S|RABGEF1_ENST00000439720.2_Silent_p.S121S			Q9UJ41	RABX5_HUMAN	RAB guanine nucleotide exchange factor (GEF) 1	286					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein targeting to membrane (GO:0006612)	early endosome (GO:0005769)	DNA binding (GO:0003677)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|stomach(1)	27						TCAGTGCATCTTCCAGGGTCG	0.463																																						uc011kee.1																			0				ovary(1)	1						c.(364-366)TCT>TCC		RAB guanine nucleotide exchange factor (GEF) 1							66.0	64.0	65.0					7																	66240358		2203	4300	6503	SO:0001819	synonymous_variant	27342				endocytosis|protein transport	early endosome|recycling endosome	DNA binding|protein binding|zinc ion binding	g.chr7:66240358T>C	AJ250042	CCDS5535.1, CCDS69308.1, CCDS75610.1	7q11.21	2010-07-09			ENSG00000154710	ENSG00000154710			17676	protein-coding gene	gene with protein product		609700				12505986, 11098082	Standard	NM_014504		Approved	rabex-5, RABEX5	uc003tvh.3	Q9UJ41	OTTHUMG00000129547	ENST00000284957.5:c.324T>C	7.37:g.66240358T>C						RABGEF1_uc003tvf.2_5'UTR|RABGEF1_uc003tvg.2_5'UTR|RABGEF1_uc010lag.2_Silent_p.S108S|RABGEF1_uc003tvh.2_Silent_p.S108S|RABGEF1_uc003tvi.2_5'UTR	p.S122S	NM_014504	NP_055319	Q9UJ41	RABX5_HUMAN			3	530	+			286					B4DZM7|Q3HKR2|Q3HKR3|Q53FG0	Silent	SNP	ENST00000284957.5	37	c.366T>C	CCDS5535.1																																																																																				0.463	RABGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251737.3	NM_014504	
SEMA3C	10512	broad.mit.edu	37	7	80430136	80430136	+	Missense_Mutation	SNP	A	A	T			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr7:80430136A>T	ENST00000265361.3	-	10	1484	c.923T>A	c.(922-924)gTg>gAg	p.V308E	SEMA3C_ENST00000536800.1_Missense_Mutation_p.V160E|SEMA3C_ENST00000544525.1_Missense_Mutation_p.V326E|SEMA3C_ENST00000419255.2_Missense_Mutation_p.V308E	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	308	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|blood vessel remodeling (GO:0001974)|cardiac right ventricle morphogenesis (GO:0003215)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|immune response (GO:0006955)|limb bud formation (GO:0060174)|neural crest cell migration (GO:0001755)|neural tube development (GO:0021915)|outflow tract morphogenesis (GO:0003151)|post-embryonic development (GO:0009791)|pulmonary myocardium development (GO:0003350)|response to drug (GO:0042493)|somitogenesis (GO:0001756)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CAGCAGAAACACATCCTCTAT	0.279																																						uc003uhj.2																			0				ovary(1)	1						c.(922-924)GTG>GAG		semaphorin 3C precursor							77.0	79.0	78.0					7																	80430136		2203	4292	6495	SO:0001583	missense	10512				immune response|response to drug	membrane	receptor activity	g.chr7:80430136A>T	AB000220	CCDS5596.1	7q21-q31	2013-01-11			ENSG00000075223	ENSG00000075223		"""Semaphorins"", ""Immunoglobulin superfamily / I-set domain containing"""	10725	protein-coding gene	gene with protein product		602645		SEMAE		7748561, 9168980	Standard	NM_006379		Approved	SemE	uc003uhj.3	Q99985	OTTHUMG00000023447	ENST00000265361.3:c.923T>A	7.37:g.80430136A>T	ENSP00000265361:p.Val308Glu					SEMA3C_uc011kgw.1_Missense_Mutation_p.V326E|SEMA3C_uc011kgx.1_Missense_Mutation_p.V160E	p.V308E	NM_006379	NP_006370	Q99985	SEM3C_HUMAN			10	1485	-			308			Sema.		B4DRL8	Missense_Mutation	SNP	ENST00000265361.3	37	c.923T>A	CCDS5596.1	.	.	.	.	.	.	.	.	.	.	A	27.6	4.848752	0.91277	.	.	ENSG00000075223	ENST00000265361;ENST00000419255;ENST00000544525;ENST00000536800	T;T;T;T	0.15718	2.4;2.4;2.4;2.4	5.87	5.87	0.94306	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.052947	0.85682	D	0.000000	T	0.52757	0.1754	M	0.92604	3.325	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.80764	0.994;0.986;0.992	T	0.64952	-0.6286	10	0.87932	D	0	.	16.2736	0.82632	1.0:0.0:0.0:0.0	.	160;326;308	B4DRL8;F5H1Z7;Q99985	.;.;SEM3C_HUMAN	E	308;308;326;160	ENSP00000265361:V308E;ENSP00000411193:V308E;ENSP00000445649:V326E;ENSP00000438258:V160E	ENSP00000265361:V308E	V	-	2	0	SEMA3C	80268072	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	9.010000	0.93611	2.247000	0.74100	0.477000	0.44152	GTG		0.279	SEMA3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253279.1	NM_006379	
CACNA2D1	781	broad.mit.edu	37	7	81591256	81591256	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr7:81591256C>T	ENST00000356253.5	-	36	3211	c.2956G>A	c.(2956-2958)Gac>Aac	p.D986N	CACNA2D1_ENST00000356860.3_Missense_Mutation_p.D974N|CACNA2D1_ENST00000535308.1_Missense_Mutation_p.D186N			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	986					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	GATTTACTGTCGTTATCGAAG	0.418																																						uc003uhr.1																			0				ovary(5)|pancreas(1)	6						c.(2920-2922)GAC>AAC		calcium channel, voltage-dependent, alpha	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)						130.0	118.0	122.0					7																	81591256		2203	4300	6503	SO:0001583	missense	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:81591256C>T	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.2956G>A	7.37:g.81591256C>T	ENSP00000348589:p.Asp986Asn					CACNA2D1_uc011kgy.1_Missense_Mutation_p.D186N	p.D974N	NM_000722	NP_000713	P54289	CA2D1_HUMAN			36	3176	-			986			Extracellular (Potential).		Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	37	c.2920G>A		.	.	.	.	.	.	.	.	.	.	C	11.88	1.771000	0.31320	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253;ENST00000535308	T;T;T	0.71579	-0.58;-0.58;-0.58	5.19	5.19	0.71726	.	0.151545	0.64402	D	0.000018	T	0.55305	0.1912	N	0.20986	0.625	0.37435	D	0.914179	B;B	0.27679	0.185;0.003	B;B	0.24006	0.05;0.002	T	0.56511	-0.7967	10	0.19590	T	0.45	-27.0591	14.3848	0.66938	0.0:0.9262:0.0:0.0738	.	186;974	B7Z658;P54289-2	.;.	N	974;993;986;186	ENSP00000349320:D974N;ENSP00000348589:D986N;ENSP00000443124:D186N	ENSP00000284088:D993N	D	-	1	0	CACNA2D1	81429192	0.988000	0.35896	0.830000	0.32933	0.810000	0.45777	2.319000	0.43788	2.591000	0.87537	0.650000	0.86243	GAC		0.418	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding			
TES	26136	broad.mit.edu	37	7	115889244	115889244	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr7:115889244C>T	ENST00000358204.4	+	3	499	c.284C>T	c.(283-285)aCg>aTg	p.T95M	TES_ENST00000485009.1_3'UTR|AC073130.3_ENST00000444244.1_RNA|AC002066.1_ENST00000446355.2_RNA|TES_ENST00000393481.2_Missense_Mutation_p.T86M|TES_ENST00000537767.1_Intron	NM_015641.3	NP_056456.1	Q9UGI8	TES_HUMAN	testis derived transcript (3 LIM domains)	95	PET. {ECO:0000255|PROSITE- ProRule:PRU00636}.				negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|protein complex (GO:0043234)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.T95M(2)		endometrium(4)|large_intestine(4)|lung(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	12	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	STAD - Stomach adenocarcinoma(10;0.00878)			ATGATATTGACGAATCCAGTT	0.393																																						uc003vho.2																			2	Substitution - Missense(2)		endometrium(2)		0						c.(283-285)ACG>ATG		testin isoform 1							128.0	121.0	123.0					7																	115889244		2203	4300	6503	SO:0001583	missense	26136				negative regulation of cell proliferation	cytoplasm|focal adhesion|nucleus|protein complex	zinc ion binding	g.chr7:115889244C>T	AJ250865	CCDS5763.1, CCDS5764.1	7q31.2	2004-04-20			ENSG00000135269	ENSG00000135269			14620	protein-coding gene	gene with protein product		606085				10950921	Standard	NM_015641		Approved	DKFZP586B2022, TESS-2, TESTIN	uc003vho.3	Q9UGI8	OTTHUMG00000023092	ENST00000358204.4:c.284C>T	7.37:g.115889244C>T	ENSP00000350937:p.Thr95Met					TES_uc011kmx.1_Missense_Mutation_p.T95M|TES_uc011kmy.1_Intron|TES_uc010lka.1_Missense_Mutation_p.T86M|TES_uc003vhp.2_Missense_Mutation_p.T86M	p.T95M	NM_015641	NP_056456	Q9UGI8	TES_HUMAN	STAD - Stomach adenocarcinoma(10;0.00878)		3	465	+	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	95			PET.		A4D0U6|Q9GZQ1|Q9HAJ9	Missense_Mutation	SNP	ENST00000358204.4	37	c.284C>T	CCDS5763.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.175348	0.78564	.	.	ENSG00000135269	ENST00000358204;ENST00000455989;ENST00000257721;ENST00000393481	D;D;D	0.86497	-2.13;-2.13;-2.13	5.33	5.33	0.75918	PET domain (2);	0.000000	0.64402	D	0.000002	D	0.92283	0.7552	M	0.65975	2.015	0.80722	D	1	D;D	0.89917	1.0;0.998	D;P	0.68621	0.959;0.903	D	0.92759	0.6222	10	0.72032	D	0.01	-9.4563	16.4069	0.83677	0.0:0.8687:0.1313:0.0	.	95;95	B7Z5L5;Q9UGI8	.;TES_HUMAN	M	95;10;95;86	ENSP00000350937:T95M;ENSP00000413002:T10M;ENSP00000377121:T86M	ENSP00000257721:T95M	T	+	2	0	TES	115676480	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.266000	0.65525	2.649000	0.89929	0.650000	0.86243	ACG		0.393	TES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059413.2	NM_015641	
WDYHV1	55093	broad.mit.edu	37	8	124440173	124440173	+	Frame_Shift_Del	DEL	T	T	-			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr8:124440173delT	ENST00000287387.2	+	2	218	c.93delT	c.(91-93)aatfs	p.N31fs	WDYHV1_ENST00000523356.1_Frame_Shift_Del_p.N31fs|WDYHV1_ENST00000523984.1_5'UTR|WDYHV1_ENST00000517609.1_3'UTR|WDYHV1_ENST00000518125.1_5'Flank	NM_018024.1	NP_060494.1	Q96HA8	NTAQ1_HUMAN	WDYHV motif containing 1	31					cellular protein modification process (GO:0006464)	cytosol (GO:0005829)|nucleus (GO:0005634)	protein-N-terminal glutamine amidohydrolase activity (GO:0070773)			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(3)	17						GTGAAGAAAATATTTGGAAGC	0.294																																						uc003yqn.1																			0				ovary(1)|skin(1)	2						c.(91-93)AATfs		WDYHV motif containing 1							108.0	125.0	119.0					8																	124440173		2203	4300	6503	SO:0001589	frameshift_variant	55093				protein modification process	cytosol|nucleus	protein binding|protein N-terminal glutamine amidohydrolase activity	g.chr8:124440173delT	AK001066	CCDS6344.1, CCDS64965.1	8q24.13	2008-10-01	2008-10-01	2008-10-01		ENSG00000156795			25490	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 32"""	C8orf32		12477932	Standard	NM_018024		Approved	FLJ10204	uc003yqn.1	Q96HA8		ENST00000287387.2:c.93delT	8.37:g.124440173delT	ENSP00000287387:p.Asn31fs					WDYHV1_uc011lij.1_5'UTR|WDYHV1_uc003yqo.1_5'Flank	p.N31fs	NM_018024	NP_060494	Q96HA8	NTAQ1_HUMAN			2	218	+			31					B4DE68|Q9NW95	Frame_Shift_Del	DEL	ENST00000287387.2	37	c.93delT	CCDS6344.1																																																																																				0.294	WDYHV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381772.1	NM_018024	
SLC6A14	11254	broad.mit.edu	37	X	115573956	115573956	+	Nonsense_Mutation	SNP	G	G	T			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chrX:115573956G>T	ENST00000371900.4	+	4	536	c.448G>T	c.(448-450)Gaa>Taa	p.E150*		NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	150					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	TTTTCAAAGTGAACTACCATG	0.323																																						uc004eqi.2																			0				ovary(2)|pancreas(1)	3						c.(448-450)GAA>TAA		solute carrier family 6 (amino acid	L-Proline(DB00172)						126.0	118.0	121.0					X																	115573956		2203	4297	6500	SO:0001587	stop_gained	11254				cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chrX:115573956G>T	AF151978	CCDS14570.1	Xq23	2013-05-22			ENSG00000087916	ENSG00000268104		"""Solute carriers"""	11047	protein-coding gene	gene with protein product		300444	"""solute carrier family 6 (neurotransmitter transporter), member 14"""			10446133	Standard	NM_007231		Approved		uc004eqi.3	Q9UN76	OTTHUMG00000022245	ENST00000371900.4:c.448G>T	X.37:g.115573956G>T	ENSP00000360967:p.Glu150*					SLC6A14_uc011mtm.1_RNA	p.E150*	NM_007231	NP_009162	Q9UN76	S6A14_HUMAN			4	552	+			150			Extracellular (Potential).		Q5H942	Nonsense_Mutation	SNP	ENST00000371900.4	37	c.448G>T	CCDS14570.1	.	.	.	.	.	.	.	.	.	.	G	36	5.762563	0.96906	.	.	ENSG00000087916	ENST00000371900	.	.	.	5.61	2.77	0.32553	.	0.454788	0.25045	N	0.033578	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	.	8.3675	0.32395	0.0857:0.4534:0.4609:0.0	.	.	.	.	X	150	.	ENSP00000360967:E150X	E	+	1	0	SLC6A14	115487984	0.371000	0.25056	0.448000	0.26945	0.981000	0.71138	1.623000	0.37008	0.143000	0.18926	-0.218000	0.12543	GAA		0.323	SLC6A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057986.1		
WASH6P	653440	broad.mit.edu	37	X	155254735	155254735	+	RNA	SNP	C	C	G			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chrX:155254735C>G	ENST00000461007.1	+	0	3651				AJ271736.10_ENST00000285718.7_RNA			Q9NQA3	WASH6_HUMAN	WAS protein family homolog 6 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)	p.L425V(1)									GATGTCGGATCTCTTCAACAA	0.587																																						uc004fnx.3																			1	Substitution - Missense(1)		kidney(1)								c.(631-633)CTC>GTC		WAS protein family homolog 1																																						0							g.chrX:155254735C>G	AI042587		Xq28 and Yq12	2014-08-28	2008-01-16	2008-01-16	ENSG00000182484	ENSG00000182484		"""Pseudoautosomal regions / PAR2"", ""WAS protein homologs"""	31685	pseudogene	pseudogene			"""family with sequence similarity 39, member A"", ""chromosomes X and Y open reading frame 1"""	FAM39A, CXYorf1		10655549, 12566406, 18159949	Standard	NG_008380		Approved			Q9NQA3	OTTHUMG00000022677		X.37:g.155254735C>G							p.L211V	NM_182905	NP_878908					8	1085	+								A6NGF1|Q8N305	Missense_Mutation	SNP	ENST00000461007.1	37	c.631C>G		.	.	.	.	.	.	.	.	.	.	c	15.33	2.802731	0.50315	.	.	ENSG00000182484	ENST00000359512;ENST00000285718	.	.	.	0.379	0.379	0.16213	.	0.186044	0.48286	D	0.000191	T	0.39200	0.1069	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.29822	-0.9999	6	0.72032	D	0.01	-24.1796	6.473	0.22020	0.0:0.9998:0.0:2.0E-4	.	.	.	.	V	425;394	.	ENSP00000285718:L394V	L	+	1	0	WASH6P	154907929	1.000000	0.71417	0.841000	0.33234	0.284000	0.27059	4.956000	0.63645	0.418000	0.25898	0.171000	0.16805	CTC		0.587	WASH6P-016	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000058840.1	NG_008380	
