#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_IsAdjacentToRepeatRegion	i_IsMicroSat	i_MUTSIG_Published_Results	i_Mutation_Status	i_NumberOfSatRepeats	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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_is_in_m2pon	i_refseq_mrna_id	i_secondary_variant_classification	i_site
DACH1	1602	broad.mit.edu	37	13	72147123	72147124	+	Frame_Shift_Ins	INS	-	-	GTTATTAAGGTAATTCTTTT			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr13:72147123_72147124insGTTATTAAGGTAATTCTTTT	ENST00000359684.2	-	5	1308_1309	c.1309_1310insAAAAGAATTACCTTAATAAC	c.(1309-1311)atgfs	p.M437fs	DACH1_ENST00000354591.4_Intron|DACH1_ENST00000313174.7_Intron|DACH1_ENST00000305425.4_Frame_Shift_Ins_p.M385fs			Q9UI36	DACH1_HUMAN	dachshund family transcription factor 1	437					cell proliferation (GO:0008283)|development of primary female sexual characteristics (GO:0046545)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription by competitive promoter binding (GO:0010944)|respiratory gaseous exchange (GO:0007585)|suckling behavior (GO:0001967)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity involved in preinitiation complex assembly (GO:0001075)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		GTGGGGCATCATCATAAAAGGA	0.406																																						ENST00000305425.4		NA																	0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(1153-1155)atgfs		dachshund homolog 1 (Drosophila)																																				SO:0001589	frameshift_variant	1602				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding	g.chr13:72147123_72147124insGTTATTAAGGTAATTCTTTT	AJ005670	CCDS41899.1, CCDS53874.1, CCDS53873.1	13q22	2014-02-03	2014-02-03	2004-04-02	ENSG00000165659	ENSG00000276644			2663	protein-coding gene	gene with protein product		603803	"""dachshund homolog (Drosophila)"", ""dachshund homolog 1 (Drosophila)"""	DACH		9933575, 10395809, 15057823	Standard	NM_004392		Approved		uc021rkj.1	Q9UI36	OTTHUMG00000017063	ENST00000359684.2:c.1309_1310insAAAAGAATTACCTTAATAAC	13.37:g.72147123_72147124insGTTATTAAGGTAATTCTTTT	ENSP00000352712:p.Met437fs	True	False		Somatic	0				DACH1_ENST00000313174.7_Intron|DACH1_ENST00000359684.2_Frame_Shift_Ins_p.M437fs|DACH1_ENST00000354591.4_Intron	p.M385fs	NM_080759.4	NP_542937.2	WXS	Illumina HiSeq	Phase_I	Q9UI36	DACH1_HUMAN		GBM - Glioblastoma multiforme(99;0.00032)	4	1575_1576	-		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)	435					D0FY35|D0FY36|O75523|O75687|Q5VYY3|Q5VYY4|Q96SG3|Q96SG4|Q9H524|Q9UMH4	Frame_Shift_Ins	INS	ENST00000359684.2	37	c.1153_1154insAAAAGAATTACCTTAATAAC																																																																																					0.406	DACH1-002	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045240.1	0	NM_004392		13:72147123
IL4R	3566	broad.mit.edu	37	16	27367137	27367166	+	In_Frame_Del	DEL	GAGCCCTTCGAGCAGCACCTCCTGCTGGGC	GAGCCCTTCGAGCAGCACCTCCTGCTGGGC	-	rs529668380		TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	GAGCCCTTCGAGCAGCACCTCCTGCTGGGC	GAGCCCTTCGAGCAGCACCTCCTGCTGGGC	-	-	GAGCCCTTCGAGCAGCACCTCCTGCTGGGC	GAGCCCTTCGAGCAGCACCTCCTGCTGGGC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr16:27367137_27367166delGAGCCCTTCGAGCAGCACCTCCTGCTGGGC	ENST00000395762.2	+	8	938_967	c.679_708delGAGCCCTTCGAGCAGCACCTCCTGCTGGGC	c.(679-708)gagcccttcgagcagcacctcctgctgggcdel	p.EPFEQHLLLG227del	IL4R_ENST00000565915.1_3'UTR|IL4R_ENST00000170630.2_In_Frame_Del_p.EPFEQHLLLG227del|IL4R_ENST00000380922.3_In_Frame_Del_p.EPFEQHLLLG212del|IL4R_ENST00000543915.2_In_Frame_Del_p.EPFEQHLLLG227del	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	227					defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						AGCCTACAGGGAGCCCTTCGAGCAGCACCTCCTGCTGGGCGTCAGCGTTT	0.622																																						ENST00000395762.2		NA																	0				breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						c.(679-708)gagcccttcgagcagcacctcctgctgggcdel		interleukin 4 receptor																																				SO:0001651	inframe_deletion	3566				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity	g.chr16:27367137_27367166delGAGCCCTTCGAGCAGCACCTCCTGCTGGGC	X52425	CCDS10629.1, CCDS58441.1	16p12.1-p11.2	2008-05-14			ENSG00000077238	ENSG00000077238		"""Interleukins and interleukin receptors"", ""CD molecules"""	6015	protein-coding gene	gene with protein product		147781				1679753	Standard	NM_000418		Approved	CD124	uc010bxy.4	P24394	OTTHUMG00000097015	ENST00000395762.2:c.679_708delGAGCCCTTCGAGCAGCACCTCCTGCTGGGC	16.37:g.27367137_27367166delGAGCCCTTCGAGCAGCACCTCCTGCTGGGC	ENSP00000379111:p.Glu227_Gly236del	False	False		Somatic	1				IL4R_ENST00000543915.2_In_Frame_Del_p.EPFEQHLLLG227del|IL4R_ENST00000170630.2_In_Frame_Del_p.EPFEQHLLLG227del|IL4R_ENST00000565915.1_3'UTR|IL4R_ENST00000380922.3_In_Frame_Del_p.EPFEQHLLLG212del	p.EPFEQHLLLG227del	NM_000418.3	NP_000409.1	WXS	Illumina HiSeq	Phase_I	P24394	IL4RA_HUMAN			8	938_967	+			227					B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	In_Frame_Del	DEL	ENST00000395762.2	37	c.679_708delGAGCCCTTCGAGCAGCACCTCCTGCTGGGC	CCDS10629.1																																																																																				0.622	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214104.4	0			16:27367137
RBM10	8241	broad.mit.edu	37	X	47039289	47039289	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chrX:47039289delG	ENST00000377604.3	+	10	1654	c.912delG	c.(910-912)ttgfs	p.L304fs	RBM10_ENST00000345781.6_Frame_Shift_Del_p.L227fs|RBM10_ENST00000478410.1_3'UTR|RBM10_ENST00000329236.7_Frame_Shift_Del_p.L227fs	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	304	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						CCATCATTTTGCGCAACCTGA	0.612																																					Melanoma(171;120 2705 19495 39241)	ENST00000377604.3		NA																	0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						c.(910-912)ttgfs		RNA binding motif protein 10							48.0	25.0	33.0					X																	47039289		2202	4296	6498	SO:0001589	frameshift_variant	8241				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding	g.chrX:47039289delG	U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"""Zinc fingers, RAN-binding domain containing"", ""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.912delG	X.37:g.47039289delG	ENSP00000366829:p.Leu304fs	True	False		Somatic	1				RBM10_ENST00000329236.7_Frame_Shift_Del_p.L227fs|RBM10_ENST00000345781.6_Frame_Shift_Del_p.L227fs|RBM10_ENST00000468791.1_Intron	p.L304fs	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	WXS	Illumina HiSeq	Phase_I	P98175	RBM10_HUMAN			10	1654	+			304			RRM 2.		C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	Frame_Shift_Del	DEL	ENST00000377604.3	37	c.912delG	CCDS14274.1																																																																																				0.612	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056381.1	0	NM_005676		X:47039289
C1QB	713	broad.mit.edu	37	1	22987385	22987438	+	In_Frame_Del	DEL	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	rs544508692|rs148813212		TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	-	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr1:22987385_22987438delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	ENST00000314933.6	+	3	400_453	c.268_321delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	c.(268-321)ggccccaagggccccatgggccctaaaggtggcccaggggcccctggagccccadel	p.GPKGPMGPKGGPGAPGAP90del	C1QB_ENST00000509305.1_In_Frame_Del_p.GPKGPMGPKGGPGAPGAP88del	NM_000491.3	NP_000482.3	P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	90	Collagen-like 2.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|inner ear development (GO:0048839)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|complement component C1 complex (GO:0005602)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGGAAAAGTCGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCAGGCCCCAAAG	0.618																																						ENST00000509305.1		NA																	0				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14						c.(262-315)ggccccaagggccccatgggccctaaaggtggcccaggggcccctggagccccadel		complement component 1, q subcomponent, B chain	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)																																			SO:0001651	inframe_deletion	713				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex		g.chr1:22987385_22987438delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	X03084	CCDS228.1	1p36.3-p34.1	2014-09-17	2006-02-09		ENSG00000173369	ENSG00000173369		"""Complement system"""	1242	protein-coding gene	gene with protein product		120570	"""complement component 1, q subcomponent, beta polypeptide"""			1537612	Standard	XM_005245982		Approved		uc001bgd.3	P02746	OTTHUMG00000002896	ENST00000314933.6:c.268_321delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	1.37:g.22987385_22987438delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	ENSP00000313967:p.Gly90_Pro107del	True	False		Somatic	1				C1QB_ENST00000314933.6_In_Frame_Del_p.GPKGPMGPKGGPGAPGAP90del	p.GPKGPMGPKGGPGAPGAP88del			WXS	Illumina HiSeq	Phase_I	P02746	C1QB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	3	608_661	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	90			Collagen-like 2.		Q5T959|Q96H17	In_Frame_Del	DEL	ENST00000314933.6	37	c.262_315delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	CCDS228.1																																																																																				0.618	C1QB-201	KNOWN	basic|CCDS	protein_coding	protein_coding		0	NM_000491		1:22987385
RBM47	54502	broad.mit.edu	37	4	40434705	40434725	+	In_Frame_Del	DEL	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	-	rs547575066|rs200374378|rs564837143|rs370564777|rs528269773	byFrequency	TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	-	-	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr4:40434705_40434725delGCGGCTGCGGCGGCTGCGGCC	ENST00000381793.2	-	5	1881_1901	c.1485_1505delGGCCGCAGCCGCCGCAGCCGC	c.(1483-1506)gcggccgcagccgccgcagccgct>gct	p.495_502AAAAAAAA>A	RBM47_ENST00000319592.4_In_Frame_Del_p.426_433AAAAAAAA>A|RBM47_ENST00000381795.6_In_Frame_Del_p.426_433AAAAAAAA>A|RBM47_ENST00000295971.7_In_Frame_Del_p.495_502AAAAAAAA>A|RBM47_ENST00000515809.1_5'UTR|RBM47_ENST00000514014.1_In_Frame_Del_p.457_464AAAAAAAA>A			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	495	Ala-rich.				hematopoietic progenitor cell differentiation (GO:0002244)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GGGAATGACAgcggctgcggcggctgcggccgcggctgcgg	0.548														12	0.00239617	0.0038	0.0	5008	,	,		15547	0.001		0.003	False		,,,				2504	0.0031					ENST00000381793.2		NA																	0				breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						c.(1483-1506)gcggccgcagccgccgcagccgct>gct		RNA binding motif protein 47			,	18,4178		0,18,2080					,	-8.6	0.0			47	62,8154		1,60,4047	no	coding,coding	RBM47	NM_019027.3,NM_001098634.1	,	1,78,6127	A1A1,A1R,RR		0.7546,0.429,0.6445	,	,		80,12332				SO:0001651	inframe_deletion	54502					nucleus	nucleotide binding|RNA binding	g.chr4:40434705_40434725delGCGGCTGCGGCGGCTGCGGCC	AK000280	CCDS3460.1, CCDS43223.1	4p14	2013-02-12			ENSG00000163694	ENSG00000163694		"""RNA binding motif (RRM) containing"""	30358	protein-coding gene	gene with protein product							Standard	NM_019027		Approved	FLJ20273, NET18	uc003gvc.2	A0AV96	OTTHUMG00000128598	ENST00000381793.2:c.1485_1505delGGCCGCAGCCGCCGCAGCCGC	4.37:g.40434705_40434725delGCGGCTGCGGCGGCTGCGGCC	ENSP00000371212:p.Ala495_Ala501del	True	False		Somatic	1				RBM47_ENST00000295971.7_In_Frame_Del_p.495_502AAAAAAAA>A|RBM47_ENST00000514014.1_In_Frame_Del_p.457_464AAAAAAAA>A|RBM47_ENST00000515809.1_5'UTR|RBM47_ENST00000381795.6_In_Frame_Del_p.426_433AAAAAAAA>A|RBM47_ENST00000319592.4_In_Frame_Del_p.426_433AAAAAAAA>A	p.495_502AAAAAAAA>A			WXS	Illumina HiSeq	Phase_I	A0AV96	RBM47_HUMAN			5	1881_1901	-			495			Ala-rich.		A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	In_Frame_Del	DEL	ENST00000381793.2	37	c.1485_1505delGGCCGCAGCCGCCGCAGCCGC	CCDS43223.1																																																																																				0.548	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250456.2	0	NM_019027		4:40434705
JMY	133746	broad.mit.edu	37	5	78610444	78610479	+	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	rs200621350|rs201864465		TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	-	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENST00000396137.4	+	9	2891_2926	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca	p.PPPPPPPPPPPP811del	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	811	Pro-rich.				'de novo' actin filament nucleation (GO:0070060)|actin polymerization-dependent cell motility (GO:0070358)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of apoptotic process (GO:0043065)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTTCCTccaacaccaccacctcccccacctcctccccctcccccaccaccaccacc	0.534																																						ENST00000396137.4		NA																	0				endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16						c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca		junction mediating and regulatory protein, p53 cofactor																																				SO:0001651	inframe_deletion	133746				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	AK095189	CCDS4047.3	5q14.1	2010-03-23			ENSG00000152409	ENSG00000152409			28916	protein-coding gene	gene with protein product		604279				10518217	Standard	NM_152405		Approved	FLJ37870	uc003kfx.4	Q8N9B5	OTTHUMG00000131301	ENST00000396137.4:c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	5.37:g.78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENSP00000379441:p.Pro811_Pro822del	False	False		Somatic	1				JMY_ENST00000412001.1_Intron	p.PPPPPPPPPPPP811del	NM_152405.4	NP_689618.4	WXS	Illumina HiSeq	Phase_I	Q8N9B5	JMY_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)	9	2891_2926	+		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)	811			Pro-rich.		A1L4P5|B5MDS2|B5MDT0	In_Frame_Del	DEL	ENST00000396137.4	37	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CCDS4047.3																																																																																				0.534	JMY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254070.4	0	NM_152405		5:78610444
RANBP2	5903	broad.mit.edu	37	2	109371498	109371498	+	Silent	SNP	G	G	A	rs373469365	byFrequency	TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr2:109371498G>A	ENST00000283195.6	+	16	2466	c.2340G>A	c.(2338-2340)ccG>ccA	p.P780P		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	780					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ATTCTACACCGTCTCCTACCA	0.353													G|||	3	0.000599042	0.0008	0.0	5008	,	,		15081	0.001		0.0	False		,,,				2504	0.001					ENST00000283195.6		NA																RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(2338-2340)ccG>ccA		RAN binding protein 2							98.0	103.0	101.0					2																	109371498		2198	4282	6480	SO:0001819	synonymous_variant	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109371498G>A	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.2340G>A	2.37:g.109371498G>A		False	False		Somatic	0					p.P780P	NM_006267.4	NP_006258.3	WXS	Illumina HiSeq	Phase_I	P49792	RBP2_HUMAN			16	2466	+			780					Q13074|Q15280|Q53TE2|Q59FH7	Silent	SNP	ENST00000283195.6	37	c.2340G>A	CCDS2079.1																																																																																				0.353	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	0	NM_006267		2:109371498
SETD5	55209	broad.mit.edu	37	3	9506122	9506122	+	Silent	SNP	A	A	G			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr3:9506122A>G	ENST00000406341.1	+	17	2680	c.2490A>G	c.(2488-2490)ccA>ccG	p.P830P	SETD5_ENST00000407969.1_Silent_p.P849P|SETD5_ENST00000402198.1_Silent_p.P830P|SETD5_ENST00000302463.6_Silent_p.P732P|SETD5_ENST00000488236.1_3'UTR|SETD5_ENST00000402466.1_Silent_p.P732P			Q9C0A6	SETD5_HUMAN	SET domain containing 5	830										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		TGTTGAGCCCATTAAAGAAAT	0.428																																						ENST00000402466.1		NA																	0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(2194-2196)ccA>ccG		SET domain containing 5							158.0	152.0	154.0					3																	9506122		1908	4129	6037	SO:0001819	synonymous_variant	55209							g.chr3:9506122A>G	BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.2490A>G	3.37:g.9506122A>G		True	False		Somatic	0				SETD5_ENST00000488236.1_3'UTR|SETD5_ENST00000402198.1_Silent_p.P830P|SETD5_ENST00000407969.1_Silent_p.P849P|SETD5_ENST00000302463.6_Silent_p.P732P|SETD5_ENST00000406341.1_Silent_p.P830P	p.P732P			WXS	Illumina HiSeq	Phase_I	Q9C0A6	SETD5_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.112)	19	2964	+	Medulloblastoma(99;0.227)		830					Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Silent	SNP	ENST00000406341.1	37	c.2196A>G	CCDS46741.1	.	.	.	.	.	.	.	.	.	.	A	10.07	1.249061	0.22880	.	.	ENSG00000168137	ENST00000399686;ENST00000421188	.	.	.	5.78	3.28	0.37604	.	.	.	.	.	T	0.54464	0.1860	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45381	-0.9265	4	.	.	.	-10.4749	5.9389	0.19181	0.4756:0.1792:0.0:0.3452	.	.	.	.	V	498;142	.	.	I	+	1	0	SETD5	9481122	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	0.507000	0.22675	0.386000	0.24997	0.533000	0.62120	ATT		0.428	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	0	XM_371614		3:9506122
RAB39A	54734	broad.mit.edu	37	11	107832736	107832736	+	Nonsense_Mutation	SNP	C	C	T	rs201681603		TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr11:107832736C>T	ENST00000320578.2	+	2	358	c.292C>T	c.(292-294)Cga>Tga	p.R98*		NM_017516.1	NP_059986.1	Q14964	RB39A_HUMAN	RAB39A, member RAS oncogene family	98					phagosome acidification (GO:0090383)|phagosome-lysosome fusion (GO:0090385)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)										CATTACTAACCGACGATCTTT	0.348																																						ENST00000320578.2		NA																	0					NA						c.(292-294)Cga>Tga		RAB39A, member RAS oncogene family							71.0	69.0	70.0					11																	107832736		2201	4298	6499	SO:0001587	stop_gained	54734				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr11:107832736C>T	X99962	CCDS8338.1	11q22.3	2011-11-22	2011-11-22	2011-11-22	ENSG00000179331	ENSG00000179331		"""RAB, member RAS oncogene"""	16521	protein-coding gene	gene with protein product	"""rab-related GTP-binding protein"""		"""RAB39, member RAS oncogene family"""	RAB39		9119394	Standard	NM_017516		Approved		uc001pjt.3	Q14964	OTTHUMG00000166367	ENST00000320578.2:c.292C>T	11.37:g.107832736C>T	ENSP00000322594:p.Arg98*	False	False		Somatic	0					p.R98*	NM_017516.1	NP_059986.1	WXS	Illumina HiSeq	Phase_I	Q14964	RB39A_HUMAN			2	358	+			98					A8KAA4|Q8N6W2	Nonsense_Mutation	SNP	ENST00000320578.2	37	c.292C>T	CCDS8338.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.627261	0.87560	.	.	ENSG00000179331	ENST00000320578	.	.	.	5.4	4.49	0.54785	.	0.000000	0.49305	D	0.000157	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.863	0.79040	0.1366:0.8634:0.0:0.0	.	.	.	.	X	98	.	ENSP00000322594:R98X	R	+	1	2	RAB39	107337946	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	5.526000	0.67116	1.512000	0.48834	-0.133000	0.14855	CGA		0.348	RAB39A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389423.1	0	NM_017516		11:107832736
GSTM5	2949	broad.mit.edu	37	1	110256173	110256173	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr1:110256173G>A	ENST00000256593.3	+	4	303	c.245G>A	c.(244-246)cGc>cAc	p.R82H	GSTM5_ENST00000492718.1_3'UTR|GSTM5_ENST00000369812.5_Missense_Mutation_p.R101H|GSTM5_ENST00000369813.1_Missense_Mutation_p.R41H	NM_000851.3	NP_000842.2	P46439	GSTM5_HUMAN	glutathione S-transferase mu 5	82	GST N-terminal.				glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	glutathione transferase activity (GO:0004364)			NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	21		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	TACATTGCCCGCAAGCACAAC	0.557																																						ENST00000369813.1		NA																	0				NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	21						c.(121-123)cGc>cAc		glutathione S-transferase mu 5	Glutathione(DB00143)						419.0	300.0	340.0					1																	110256173		2203	4300	6503	SO:0001583	missense	2949				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity	g.chr1:110256173G>A	L02321	CCDS811.1	1p13.3	2012-06-21	2008-11-26		ENSG00000134201	ENSG00000134201	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4637	protein-coding gene	gene with protein product		138385	"""glutathione S-transferase M5"""			8473333	Standard	NM_000851		Approved		uc001dyn.3	P46439	OTTHUMG00000011644	ENST00000256593.3:c.245G>A	1.37:g.110256173G>A	ENSP00000256593:p.Arg82His	True	False		Somatic	0				GSTM5_ENST00000492718.1_3'UTR|GSTM5_ENST00000256593.3_Missense_Mutation_p.R82H|GSTM5_ENST00000369812.5_Missense_Mutation_p.R101H	p.R41H			WXS	Illumina HiSeq	Phase_I	P46439	GSTM5_HUMAN		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	2	1027	+		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)	82			GST N-terminal.		A8K0V8|Q6PD78	Missense_Mutation	SNP	ENST00000256593.3	37	c.122G>A	CCDS811.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.140693	0.77775	.	.	ENSG00000134201	ENST00000256593;ENST00000369813;ENST00000369812	T;T;T	0.08634	3.07;3.07;3.07	4.42	3.51	0.40186	Glutathione S-transferase, N-terminal (2);Thioredoxin-like fold (1);	0.000000	0.64402	U	0.000001	T	0.20170	0.0485	M	0.90252	3.1	0.45261	D	0.998267	D;D	0.69078	0.997;0.995	D;P	0.65010	0.931;0.866	T	0.02925	-1.1093	10	0.66056	D	0.02	.	9.8076	0.40803	0.0983:0.0:0.9017:0.0	.	41;82	Q5T8Q9;P46439	.;GSTM5_HUMAN	H	82;41;101	ENSP00000256593:R82H;ENSP00000358828:R41H;ENSP00000358827:R101H	ENSP00000256593:R82H	R	+	2	0	GSTM5	110057696	1.000000	0.71417	0.996000	0.52242	0.980000	0.70556	4.262000	0.58847	1.211000	0.43351	0.597000	0.82753	CGC		0.557	GSTM5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032200.1	0	NM_000851		1:110256173
ANXA1	301	broad.mit.edu	37	9	75775747	75775747	+	Missense_Mutation	SNP	T	T	G			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr9:75775747T>G	ENST00000376911.1	+	5	1295	c.413T>G	c.(412-414)aTt>aGt	p.I138S	ANXA1_ENST00000257497.6_Missense_Mutation_p.I138S			P04083	ANXA1_HUMAN	annexin A1	138					alpha-beta T cell differentiation (GO:0046632)|arachidonic acid secretion (GO:0050482)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to hydrogen peroxide (GO:0070301)|endocrine pancreas development (GO:0031018)|estrous cycle phase (GO:0060206)|gliogenesis (GO:0042063)|hepatocyte differentiation (GO:0070365)|inflammatory response (GO:0006954)|insulin secretion (GO:0030073)|keratinocyte differentiation (GO:0030216)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of interleukin-8 secretion (GO:2000483)|neutrophil clearance (GO:0097350)|neutrophil homeostasis (GO:0001780)|peptide cross-linking (GO:0018149)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of neutrophil apoptotic process (GO:0033031)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of vesicle fusion (GO:0031340)|regulation of cell proliferation (GO:0042127)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to interleukin-1 (GO:0070555)|response to peptide hormone (GO:0043434)|response to X-ray (GO:0010165)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cilium (GO:0005929)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|phospholipase A2 inhibitor activity (GO:0019834)|phospholipid binding (GO:0005543)|protein binding, bridging (GO:0030674)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(5)	8		all_epithelial(88;2.54e-11)		OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325)	Amcinonide(DB00288)|Dexamethasone(DB01234)|Hydrocortisone(DB00741)	GATACTCTAATTGAGATTTTG	0.358																																						ENST00000376911.1		NA																	0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(5)	8						c.(412-414)aTt>aGt		annexin A1	Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Clobetasol(DB01013)|Clocortolone(DB00838)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Flumethasone Pivalate(DB00663)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mometasone(DB00764)|Prednicarbate(DB01130)|Prednisone(DB00635)|Rimexolone(DB00896)|Triamcinolone(DB00620)						153.0	162.0	159.0					9																	75775747		2203	4299	6502	SO:0001583	missense	301				alpha-beta T cell differentiation|anti-apoptosis|cell surface receptor linked signaling pathway|cellular component movement|inflammatory response|keratinocyte differentiation|lipid metabolic process|peptide cross-linking|positive regulation of vesicle fusion	basolateral plasma membrane|cilium|cornified envelope|cytoplasm|extracellular region|nucleus	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity|protein binding, bridging|receptor binding|structural molecule activity	g.chr9:75775747T>G	X05908	CCDS6645.1	9q21.13	2013-02-25			ENSG00000135046	ENSG00000135046		"""Annexins"", ""Endogenous ligands"""	533	protein-coding gene	gene with protein product		151690		ANX1, LPC1		2936963	Standard	NM_000700		Approved		uc004ajf.1	P04083	OTTHUMG00000020016	ENST00000376911.1:c.413T>G	9.37:g.75775747T>G	ENSP00000366109:p.Ile138Ser	False	False		Somatic	0				ANXA1_ENST00000257497.6_Missense_Mutation_p.I138S	p.I138S			WXS	Illumina HiSeq	Phase_I	P04083	ANXA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325)	5	1295	+		all_epithelial(88;2.54e-11)	138						Missense_Mutation	SNP	ENST00000376911.1	37	c.413T>G	CCDS6645.1	.	.	.	.	.	.	.	.	.	.	T	15.17	2.754013	0.49362	.	.	ENSG00000135046	ENST00000257497;ENST00000456643;ENST00000376911	T;T;T	0.06933	3.24;3.24;3.24	5.86	2.23	0.28157	Annexin repeat, conserved site (1);	0.189835	0.56097	D	0.000034	T	0.16342	0.0393	M	0.91459	3.21	0.58432	D	0.999997	B	0.22276	0.067	B	0.24006	0.05	T	0.01604	-1.1314	10	0.87932	D	0	.	8.3775	0.32451	0.1446:0.0724:0.0:0.7829	.	138	P04083	ANXA1_HUMAN	S	138;149;138	ENSP00000257497:I138S;ENSP00000412489:I149S;ENSP00000366109:I138S	ENSP00000257497:I138S	I	+	2	0	ANXA1	74965567	1.000000	0.71417	0.987000	0.45799	0.948000	0.59901	3.066000	0.50002	0.130000	0.18549	0.533000	0.62120	ATT		0.358	ANXA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052665.1	0	NM_000700		9:75775747
DSPP	1834	broad.mit.edu	37	4	88534264	88534264	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr4:88534264G>A	ENST00000282478.7	+	3	959	c.926G>A	c.(925-927)gGc>gAc	p.G309D	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Missense_Mutation_p.G309D			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	309					biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		GACCCTGAAGGCAAAGAAGAT	0.438																																						ENST00000399271.1		NA																	0				breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						c.(925-927)gGc>gAc		dentin sialophosphoprotein							65.0	67.0	67.0					4																	88534264		1896	4111	6007	SO:0001583	missense	1834				biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent	g.chr4:88534264G>A	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.926G>A	4.37:g.88534264G>A	ENSP00000282478:p.Gly309Asp	False	False		Somatic	0				DSPP_ENST00000282478.7_Missense_Mutation_p.G309D|RP11-742B18.1_ENST00000506480.1_RNA	p.G309D	NM_014208.3	NP_055023.2	WXS	Illumina HiSeq	Phase_I	Q9NZW4	DSPP_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000508)	4	1046	+		Hepatocellular(203;0.114)|all_hematologic(202;0.236)	309					A8MUI0|O95815	Missense_Mutation	SNP	ENST00000282478.7	37	c.926G>A	CCDS43248.1	.	.	.	.	.	.	.	.	.	.	G	5.743	0.321511	0.10845	.	.	ENSG00000152591	ENST00000399271;ENST00000282478	D;D	0.87809	-2.3;-2.3	4.54	-3.71	0.04424	.	.	.	.	.	T	0.74898	0.3777	L	0.34521	1.04	0.09310	N	1	B	0.12630	0.006	B	0.14023	0.01	T	0.59721	-0.7401	9	0.05959	T	0.93	1.6285	10.5668	0.45177	0.2505:0.1385:0.6109:0.0	.	309	Q9NZW4	DSPP_HUMAN	D	309	ENSP00000382213:G309D;ENSP00000282478:G309D	ENSP00000282478:G309D	G	+	2	0	DSPP	88753288	0.000000	0.05858	0.000000	0.03702	0.071000	0.16799	-0.014000	0.12656	-0.930000	0.03752	-0.484000	0.04775	GGC		0.438	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	0	NM_014208		4:88534264
ALDOB	229	broad.mit.edu	37	9	104187759	104187759	+	Missense_Mutation	SNP	G	G	A	rs201424676		TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr9:104187759G>A	ENST00000374855.4	-	7	899	c.775C>T	c.(775-777)Cgt>Tgt	p.R259C	ALDOB_ENST00000468981.3_5'Flank	NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	259					carbohydrate metabolic process (GO:0005975)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose catabolic process (GO:0006001)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|NADH oxidation (GO:0006116)|positive regulation of ATPase activity (GO:0032781)|small molecule metabolic process (GO:0044281)|vacuolar proton-transporting V-type ATPase complex assembly (GO:0070072)	centriolar satellite (GO:0034451)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)	ATPase binding (GO:0051117)|cytoskeletal protein binding (GO:0008092)|fructose binding (GO:0070061)|fructose-1-phosphate aldolase activity (GO:0061609)|fructose-bisphosphate aldolase activity (GO:0004332)|identical protein binding (GO:0042802)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				GGAACAGTACGGTGGAGAGCT	0.507													G|||	1	0.000199681	0.0	0.0	5008	,	,		21426	0.0		0.0	False		,,,				2504	0.001					ENST00000374855.4		NA																	0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24						c.(775-777)Cgt>Tgt		aldolase B, fructose-bisphosphate							239.0	187.0	204.0					9																	104187759		2203	4300	6503	SO:0001583	missense	229				fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding	g.chr9:104187759G>A	X01098	CCDS6756.1	9q21.3-q22.2	2008-02-05			ENSG00000136872	ENSG00000136872	4.1.2.13		417	protein-coding gene	gene with protein product		612724					Standard	NM_000035		Approved		uc004bbk.2	P05062	OTTHUMG00000020378	ENST00000374855.4:c.775C>T	9.37:g.104187759G>A	ENSP00000363988:p.Arg259Cys	False	False		Somatic	0					p.R259C	NM_000035.3	NP_000026.2	WXS	Illumina HiSeq	Phase_I	P05062	ALDOB_HUMAN			7	899	-		Acute lymphoblastic leukemia(62;0.0559)	259					Q13741|Q13742|Q5T7D6	Missense_Mutation	SNP	ENST00000374855.4	37	c.775C>T	CCDS6756.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.543298	0.65198	.	.	ENSG00000136872	ENST00000374855;ENST00000374853;ENST00000430164	D	0.89875	-2.58	6.06	4.2	0.49525	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.95510	0.8541	H	0.95260	3.645	0.80722	D	1	D	0.89917	1.0	D	0.72625	0.978	D	0.95203	0.8318	10	0.87932	D	0	-5.352	10.3726	0.44064	0.0695:0.0:0.792:0.1385	.	259	P05062	ALDOB_HUMAN	C	259;186;259	ENSP00000363988:R259C	ENSP00000363986:R186C	R	-	1	0	ALDOB	103227580	1.000000	0.71417	0.880000	0.34516	0.291000	0.27294	6.636000	0.74299	0.854000	0.35336	0.650000	0.86243	CGT		0.507	ALDOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053434.2	0			9:104187759
TTC37	9652	broad.mit.edu	37	5	94803623	94803623	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr5:94803623G>A	ENST00000358746.2	-	42	4865	c.4567C>T	c.(4567-4569)Cgt>Tgt	p.R1523C		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	1523						cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						AGGTACCAACGTGCAGTTGAT	0.358																																						ENST00000358746.2		NA																	0				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						c.(4567-4569)Cgt>Tgt		tetratricopeptide repeat domain 37							119.0	110.0	113.0					5																	94803623		2203	4300	6503	SO:0001583	missense	9652						binding	g.chr5:94803623G>A	AB002370	CCDS4072.1	5q15	2014-09-17	2008-06-11	2008-06-11	ENSG00000198677	ENSG00000198677		"""Tetratricopeptide (TTC) repeat domain containing"""	23639	protein-coding gene	gene with protein product		614589	"""KIAA0372"""	KIAA0372		9205841	Standard	NM_014639		Approved		uc003klb.3	Q6PGP7	OTTHUMG00000121165	ENST00000358746.2:c.4567C>T	5.37:g.94803623G>A	ENSP00000351596:p.Arg1523Cys	False	False		Somatic	0					p.R1523C	NM_014639.3	NP_055454.1	WXS	Illumina HiSeq	Phase_I	Q6PGP7	TTC37_HUMAN			42	4865	-			1523					O15077|Q6PJI3	Missense_Mutation	SNP	ENST00000358746.2	37	c.4567C>T	CCDS4072.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.737379	0.89482	.	.	ENSG00000198677	ENST00000358746	D	0.81659	-1.52	5.27	5.27	0.74061	.	0.073499	0.64402	D	0.000001	D	0.88540	0.6464	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	D	0.89541	0.3792	10	0.87932	D	0	.	18.4885	0.90838	0.0:0.0:1.0:0.0	.	1523	Q6PGP7	TTC37_HUMAN	C	1523	ENSP00000351596:R1523C	ENSP00000351596:R1523C	R	-	1	0	TTC37	94829379	1.000000	0.71417	0.993000	0.49108	0.981000	0.71138	4.660000	0.61511	2.471000	0.83476	0.561000	0.74099	CGT		0.358	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241651.1	0	NM_014639		5:94803623
TEX101	83639	broad.mit.edu	37	19	43922079	43922079	+	Silent	SNP	G	G	T			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr19:43922079G>T	ENST00000598265.1	+	5	607	c.441G>T	c.(439-441)ggG>ggT	p.G147G	TEX101_ENST00000602198.1_Silent_p.G165G|TEX101_ENST00000601707.1_3'UTR|TEX101_ENST00000253435.7_Silent_p.G165G	NM_001130011.1	NP_001123483.1	Q9BY14	TX101_HUMAN	testis expressed 101	147	UPAR/Ly6.					acrosomal membrane (GO:0002080)|anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.G165G(1)		large_intestine(1)|lung(12)|ovary(1)|skin(1)	15		Prostate(69;0.0199)				TGGCTTTGGGGACCTGTTTCA	0.493																																						ENST00000602198.1		NA																	1	Substitution - coding silent(1)	p.G165G(1)	lung(1)	large_intestine(1)|lung(12)|ovary(1)|skin(1)	15						c.(493-495)ggG>ggT		testis expressed 101							327.0	268.0	288.0					19																	43922079		2203	4300	6503	SO:0001819	synonymous_variant	83639					anchored to membrane|plasma membrane		g.chr19:43922079G>T	AF241268	CCDS12619.1, CCDS59393.1	19q13.31	2013-06-06	2007-03-13			ENSG00000131126			30722	protein-coding gene	gene with protein product	"""cancer/testis antigen 131"", ""spermatogenesis associated 44"""	612665	"""testis expressed sequence 101"""			16388701, 16516155	Standard	NM_031451		Approved	MGC4766, SGRG, CT131, SPATA44	uc010xwo.2	Q9BY14		ENST00000598265.1:c.441G>T	19.37:g.43922079G>T		True	False		Somatic	0				TEX101_ENST00000598265.1_Silent_p.G147G|TEX101_ENST00000601707.1_3'UTR|TEX101_ENST00000253435.7_Silent_p.G165G	p.G165G	NM_031451.4	NP_113639.4	WXS	Illumina HiSeq	Phase_I	Q9BY14	TX101_HUMAN			7	937	+		Prostate(69;0.0199)	147					Q7L5R2|Q9BPY7	Silent	SNP	ENST00000598265.1	37	c.495G>T	CCDS59393.1																																																																																				0.493	TEX101-004	KNOWN	non_canonical_other|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000463176.1	0	NM_031451		19:43922079
ATP1A2	477	broad.mit.edu	37	1	160098496	160098496	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr1:160098496A>G	ENST00000361216.3	+	9	1161	c.1072A>G	c.(1072-1074)Aac>Gac	p.N358D	ATP1A2_ENST00000392233.3_Missense_Mutation_p.N358D	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	358					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CCTGGTGAAGAACCTGGAGGC	0.587																																						ENST00000361216.3		NA																	0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69						c.(1072-1074)Aac>Gac		ATPase, Na+/K+ transporting, alpha 2 polypeptide							108.0	96.0	100.0					1																	160098496		2203	4300	6503	SO:0001583	missense	477				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160098496A>G	AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"""ATPases / P-type"""	800	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-2"", ""sodium pump subunit alpha-2"", ""sodium-potassium ATPase catalytic subunit alpha-2"""	182340	"""migraine, hemiplegic 2"", ""ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"""	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.1072A>G	1.37:g.160098496A>G	ENSP00000354490:p.Asn358Asp	False	False		Somatic	0				ATP1A2_ENST00000392233.3_Missense_Mutation_p.N358D	p.N358D	NM_000702.3	NP_000693.1	WXS	Illumina HiSeq	Phase_I	P50993	AT1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		9	1161	+	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		358					D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Missense_Mutation	SNP	ENST00000361216.3	37	c.1072A>G	CCDS1196.1	.	.	.	.	.	.	.	.	.	.	A	29.3	4.994443	0.93167	.	.	ENSG00000018625	ENST00000538123;ENST00000361216;ENST00000392233;ENST00000435866	D;D	0.88896	-2.44;-2.44	4.77	4.77	0.60923	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.92299	0.7557	M	0.70903	2.155	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.999;1.0	D	0.93459	0.6809	10	0.87932	D	0	.	13.5914	0.61961	1.0:0.0:0.0:0.0	.	203;358;258;358	B4DHD7;B1AKY9;F5GXJ7;P50993	.;.;.;AT1A2_HUMAN	D	203;358;358;61	ENSP00000354490:N358D;ENSP00000376066:N358D	ENSP00000354490:N358D	N	+	1	0	ATP1A2	158365120	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.264000	0.95635	1.912000	0.55364	0.459000	0.35465	AAC		0.587	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	0	NM_000702		1:160098496
OR2L3	391192	broad.mit.edu	37	1	248224912	248224912	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr1:248224912G>T	ENST00000359959.3	+	1	929	c.929G>T	c.(928-930)gGg>gTg	p.G310V	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	310						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			ATCTGCTCTGGGAAAATGTAG	0.438																																						ENST00000359959.3		NA																	0				cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41						c.(928-930)gGg>gTg		olfactory receptor, family 2, subfamily L, member 3							38.0	39.0	38.0					1																	248224912		2203	4300	6503	SO:0001583	missense	391192				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248224912G>T	AB065950	CCDS31104.1	1q44	2012-08-09			ENSG00000198128	ENSG00000198128		"""GPCR / Class A : Olfactory receptors"""	15009	protein-coding gene	gene with protein product							Standard	NM_001004687		Approved		uc001idx.1	Q8NG85	OTTHUMG00000040195	ENST00000359959.3:c.929G>T	1.37:g.248224912G>T	ENSP00000353044:p.Gly310Val	True	False		Somatic	0				OR2L13_ENST00000366478.2_Intron	p.G310V	NM_001004687.1	NP_001004687.1	WXS	Illumina HiSeq	Phase_I	Q8NG85	OR2L3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	929	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		310					B9EH44	Missense_Mutation	SNP	ENST00000359959.3	37	c.929G>T	CCDS31104.1	.	.	.	.	.	.	.	.	.	.	G	0.021	-1.427257	0.01117	.	.	ENSG00000198128	ENST00000359959	T	0.10477	2.87	1.43	-2.86	0.05717	.	.	.	.	.	T	0.04452	0.0122	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41431	-0.9509	9	0.25751	T	0.34	.	1.3116	0.02099	0.1592:0.127:0.3444:0.3694	.	310	Q8NG85	OR2L3_HUMAN	V	310	ENSP00000353044:G310V	ENSP00000353044:G310V	G	+	2	0	OR2L3	246291535	0.011000	0.17503	0.000000	0.03702	0.038000	0.13279	-0.747000	0.04823	-1.031000	0.03308	-1.998000	0.00445	GGG		0.438	OR2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096852.1	0	NM_001004687		1:248224912
OR8B2	26595	broad.mit.edu	37	11	124253123	124253123	+	Missense_Mutation	SNP	C	C	T	rs202110730	byFrequency	TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr11:124253123C>T	ENST00000375013.2	-	1	135	c.117G>A	c.(115-117)atG>atA	p.M39I		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	39						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		GGTTGCCTACCATGGTGACAA	0.418																																						ENST00000375013.2		NA																	0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23						c.(115-117)atG>atA		olfactory receptor, family 8, subfamily B, member 2		C	ILE/MET	0,4402		0,0,2201	216.0	188.0	198.0		117	1.2	0.0	11		198	3,8595	3.0+/-9.4	0,3,4296	no	missense	OR8B2	NM_001005468.1	10	0,3,6497	TT,TC,CC		0.0349,0.0,0.0231	benign	39/314	124253123	3,12997	2201	4299	6500	SO:0001583	missense	26595				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124253123C>T	AB065826	CCDS31708.1	11q24.1	2012-08-09			ENSG00000204293	ENSG00000204293		"""GPCR / Class A : Olfactory receptors"""	8471	protein-coding gene	gene with protein product							Standard	XM_005271500		Approved		uc010sai.2	Q96RD0	OTTHUMG00000165982	ENST00000375013.2:c.117G>A	11.37:g.124253123C>T	ENSP00000364152:p.Met39Ile	False	False		Somatic	0					p.M39I	NM_001005468.1	NP_001005468.1	WXS	Illumina HiSeq	Phase_I	Q96RD0	OR8B2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)	1	135	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	39					Q8NGH2	Missense_Mutation	SNP	ENST00000375013.2	37	c.117G>A	CCDS31708.1	.	.	.	.	.	.	.	.	.	.	c	11.01	1.512128	0.27036	0.0	3.49E-4	ENSG00000204293	ENST00000375013	T	0.00524	6.82	4.2	1.17	0.20885	.	0.871881	0.10283	N	0.693231	T	0.00210	0.0006	N	0.01405	-0.89	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42965	-0.9420	10	0.54805	T	0.06	.	1.6651	0.02800	0.1587:0.3523:0.3088:0.1803	.	39	Q96RD0	OR8B2_HUMAN	I	39	ENSP00000364152:M39I	ENSP00000364152:M39I	M	-	3	0	OR8B2	123758333	0.000000	0.05858	0.002000	0.10522	0.262000	0.26303	-0.293000	0.08320	0.151000	0.19162	0.400000	0.26472	ATG		0.418	OR8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387290.1	0	NM_001005468		11:124253123
ABCB4	5244	broad.mit.edu	37	7	87069091	87069091	+	Silent	SNP	G	G	A			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr7:87069091G>A	ENST00000265723.4	-	14	1734	c.1623C>T	c.(1621-1623)atC>atT	p.I541I	ABCB4_ENST00000453593.1_Silent_p.I541I|ABCB4_ENST00000358400.3_Silent_p.I541I|ABCB4_ENST00000359206.3_Silent_p.I541I|ABCB4_ENST00000545634.1_Silent_p.I541I	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	541	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.		I -> F (in PFIC3). {ECO:0000269|PubMed:11313315}.		cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	GTGCAATGGCGATCCTCTGCT	0.532																																						ENST00000265723.4		NA																	0				breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(1621-1623)atC>atT		ATP-binding cassette, sub-family B (MDR/TAP), member 4							130.0	116.0	121.0					7																	87069091		2203	4300	6503	SO:0001819	synonymous_variant	5244				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	g.chr7:87069091G>A	M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.1623C>T	7.37:g.87069091G>A		False	False		Somatic	0				ABCB4_ENST00000358400.3_Silent_p.I541I|ABCB4_ENST00000545634.1_Silent_p.I541I|ABCB4_ENST00000453593.1_Silent_p.I541I|ABCB4_ENST00000359206.3_Silent_p.I541I	p.I541I	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	WXS	Illumina HiSeq	Phase_I	P21439	MDR3_HUMAN			14	1734	-	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		541		I -> F (in PFIC3).	ABC transporter 1.		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Silent	SNP	ENST00000265723.4	37	c.1623C>T	CCDS5606.1																																																																																				0.532	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	0	NM_000443		7:87069091
ZFYVE26	23503	broad.mit.edu	37	14	68233050	68233050	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr14:68233050C>T	ENST00000347230.4	-	32	6043	c.5905G>A	c.(5905-5907)Gag>Aag	p.E1969K	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.E1969K	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1969					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GCATCCACCTCTGGGTTGGTG	0.577																																						ENST00000347230.4		NA																	0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94						c.(5905-5907)Gag>Aag		zinc finger, FYVE domain containing 26							77.0	78.0	77.0					14																	68233050		2203	4300	6503	SO:0001583	missense	23503				cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr14:68233050C>T	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.5905G>A	14.37:g.68233050C>T	ENSP00000251119:p.Glu1969Lys	False	False		Somatic	0				ZFYVE26_ENST00000555452.1_Missense_Mutation_p.E1969K	p.E1969K	NM_015346.3	NP_056161.2	WXS	Illumina HiSeq	Phase_I	Q68DK2	ZFY26_HUMAN		all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)	32	6043	-			1969					B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	37	c.5905G>A	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	C	35	5.573986	0.96553	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.34667	1.5;1.35	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.64583	0.2611	M	0.77486	2.375	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	T	0.66654	-0.5869	10	0.72032	D	0.01	-18.437	19.8574	0.96764	0.0:1.0:0.0:0.0	.	1969;1969	G3V2D8;Q68DK2	.;ZFY26_HUMAN	K	1969;1948;1969	ENSP00000251119:E1969K;ENSP00000450603:E1969K	ENSP00000251119:E1969K	E	-	1	0	ZFYVE26	67302803	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	7.771000	0.85420	2.704000	0.92352	0.555000	0.69702	GAG		0.577	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	0	NM_015346		14:68233050
SSBP3	23648	broad.mit.edu	37	1	54708959	54708959	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr1:54708959C>T	ENST00000371320.3	-	10	1075	c.665G>A	c.(664-666)gGc>gAc	p.G222D	SSBP3_ENST00000371319.3_Missense_Mutation_p.G195D|SSBP3_ENST00000326956.7_5'UTR|SSBP3_ENST00000417664.2_Missense_Mutation_p.G112D|SSBP3_ENST00000357475.4_Missense_Mutation_p.G202D	NM_145716.2	NP_663768.1	Q9BWW4	SSBP3_HUMAN	single stranded DNA binding protein 3	222	Gly-rich.|Pro-rich.				head morphogenesis (GO:0060323)|hematopoietic progenitor cell differentiation (GO:0002244)|midbrain-hindbrain boundary initiation (GO:0021547)|positive regulation of anterior head development (GO:2000744)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prechordal plate formation (GO:0021501)|protein complex assembly (GO:0006461)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|protein complex (GO:0043234)	single-stranded DNA binding (GO:0003697)			central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	11						TGGTCTCATGCCGCTGCCGTA	0.562																																						ENST00000371320.3		NA																	0				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	11						c.(664-666)gGc>gAc		single stranded DNA binding protein 3							145.0	153.0	150.0					1																	54708959		2203	4300	6503	SO:0001583	missense	23648				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	single-stranded DNA binding	g.chr1:54708959C>T		CCDS590.1, CCDS591.1, CCDS30726.1	1p32.3	2008-02-05	2001-11-28		ENSG00000157216	ENSG00000157216			15674	protein-coding gene	gene with protein product		607390	"""single-stranded DNA-binding protein 3"""			12079286	Standard	NM_145716		Approved	CSDP, SSDP, FLJ10355, SSDP1	uc001cxe.4	Q9BWW4	OTTHUMG00000008264	ENST00000371320.3:c.665G>A	1.37:g.54708959C>T	ENSP00000360371:p.Gly222Asp	False	False		Somatic	0				SSBP3_ENST00000326956.7_5'UTR|SSBP3_ENST00000417664.2_Missense_Mutation_p.G112D|SSBP3_ENST00000357475.4_Missense_Mutation_p.G202D|SSBP3_ENST00000371319.3_Missense_Mutation_p.G195D	p.G222D	NM_145716.2	NP_663768.1	WXS	Illumina HiSeq	Phase_I	Q9BWW4	SSBP3_HUMAN			10	1075	-			222			Gly-rich.|Pro-rich.		A8K0A9|Q5T860|Q5T861|Q9BTM0|Q9BWW3	Missense_Mutation	SNP	ENST00000371320.3	37	c.665G>A	CCDS591.1	.	.	.	.	.	.	.	.	.	.	c	25.8	4.676502	0.88445	.	.	ENSG00000157216	ENST00000417664;ENST00000371320;ENST00000371319;ENST00000357475;ENST00000444533;ENST00000525990	.	.	.	3.94	3.94	0.45596	.	0.000000	0.85682	U	0.000000	T	0.78717	0.4327	M	0.75085	2.285	0.80722	D	1	D;P;P	0.89917	1.0;0.951;0.866	D;P;P	0.97110	1.0;0.743;0.686	T	0.81534	-0.0889	9	0.59425	D	0.04	-1.6526	17.3039	0.87189	0.0:1.0:0.0:0.0	.	195;202;222	Q9BWW4-2;Q9BWW4-3;Q9BWW4	.;.;SSBP3_HUMAN	D	112;222;195;202;53;85	.	ENSP00000350067:G202D	G	-	2	0	SSBP3	54481547	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.969000	0.76092	2.493000	0.84123	0.479000	0.44913	GGC		0.562	SSBP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022721.1	0	NM_018070		1:54708959
RASA2	5922	broad.mit.edu	37	3	141292025	141292025	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr3:141292025A>G	ENST00000452898.1	+	13	1356	c.1321A>G	c.(1321-1323)Att>Gtt	p.I441V	RASA2_ENST00000286364.3_Missense_Mutation_p.I441V	NM_006506.2	NP_006497.2	Q15283	RASA2_HUMAN	RAS p21 protein activator 2	441	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						AATCGATCCTATTAAATTGAA	0.264																																						ENST00000286364.3		NA																	0				NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						c.(1321-1323)Att>Gtt		RAS p21 protein activator 2							26.0	30.0	29.0					3																	141292025		2182	4275	6457	SO:0001583	missense	5922				intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity	g.chr3:141292025A>G	AF115573	CCDS3117.1	3q22-q23	2013-01-10			ENSG00000155903	ENSG00000155903		"""Pleckstrin homology (PH) domain containing"""	9872	protein-coding gene	gene with protein product		601589				8699317	Standard	NM_006506		Approved	GAP1M	uc003etz.1	Q15283	OTTHUMG00000160221	ENST00000452898.1:c.1321A>G	3.37:g.141292025A>G	ENSP00000391677:p.Ile441Val	False	False		Somatic	0				RASA2_ENST00000452898.1_Missense_Mutation_p.I441V	p.I441V			WXS	Illumina HiSeq	Phase_I	Q15283	RASA2_HUMAN			13	1356	+			441			Ras-GAP.		A8K7K1|G3V0F9|O00695|Q15284|Q92594|Q99577|Q9UEQ2	Missense_Mutation	SNP	ENST00000452898.1	37	c.1321A>G		.	.	.	.	.	.	.	.	.	.	A	1.433	-0.569702	0.03910	.	.	ENSG00000155903	ENST00000286364;ENST00000452898;ENST00000423660	T;T	0.79141	-1.24;-1.24	5.48	2.98	0.34508	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.209202	0.42682	N	0.000671	T	0.51398	0.1672	N	0.03194	-0.395	0.29030	N	0.885756	B;B;B;B	0.06786	0.001;0.0;0.0;0.0	B;B;B;B	0.15484	0.013;0.006;0.003;0.006	T	0.42716	-0.9435	10	0.25106	T	0.35	.	7.8427	0.29408	0.692:0.2346:0.0734:0.0	.	33;441;441;441	E7EU60;A8K7K1;G3V0F9;Q15283	.;.;.;RASA2_HUMAN	V	441;441;33	ENSP00000286364:I441V;ENSP00000391677:I441V	ENSP00000286364:I441V	I	+	1	0	RASA2	142774715	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.229000	0.42990	1.041000	0.40125	0.533000	0.62120	ATT		0.264	RASA2-201	KNOWN	basic	protein_coding	protein_coding		0	NM_006506		3:141292025
ZNF536	9745	broad.mit.edu	37	19	30935540	30935540	+	Silent	SNP	G	G	A			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr19:30935540G>A	ENST00000355537.3	+	2	1218	c.1071G>A	c.(1069-1071)gcG>gcA	p.A357A		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	357					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TCAGCCAGGCGTGGTTCCTCA	0.652																																						ENST00000355537.3		NA																	0				NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182						c.(1069-1071)gcG>gcA		zinc finger protein 536							104.0	112.0	110.0					19																	30935540		2203	4300	6503	SO:0001819	synonymous_variant	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30935540G>A		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.1071G>A	19.37:g.30935540G>A		False	False		Somatic	0					p.A357A	NM_014717.1	NP_055532.1	WXS	Illumina HiSeq	Phase_I	O15090	ZN536_HUMAN			2	1218	+	Esophageal squamous(110;0.0834)		357					A2RU18	Silent	SNP	ENST00000355537.3	37	c.1071G>A	CCDS32984.1																																																																																				0.652	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	0	NM_014717		19:30935540
ASTN1	460	broad.mit.edu	37	1	176845741	176845741	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr1:176845741C>T	ENST00000367654.3	-	21	3630	c.3419G>A	c.(3418-3420)cGg>cAg	p.R1140Q	ASTN1_ENST00000424564.2_Missense_Mutation_p.R1132Q|ASTN1_ENST00000361833.2_Missense_Mutation_p.R1132Q|ASTN1_ENST00000367657.3_Missense_Mutation_p.R1132Q	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	1140	Fibronectin type-III 1.				locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)		p.R1132L(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CCTGGAGCGCCGTCCTGTGTT	0.572																																						ENST00000367654.3		NA																	1	Substitution - Missense(1)	p.R1132L(1)	lung(1)	NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						c.(3418-3420)cGg>cAg		astrotactin 1							118.0	89.0	99.0					1																	176845741		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176845741C>T	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.3419G>A	1.37:g.176845741C>T	ENSP00000356626:p.Arg1140Gln	False	False		Somatic	0				ASTN1_ENST00000424564.2_Missense_Mutation_p.R1132Q|ASTN1_ENST00000367657.3_Missense_Mutation_p.R1132Q|ASTN1_ENST00000361833.2_Missense_Mutation_p.R1132Q	p.R1140Q	NM_004319.1	NP_004310.1	WXS	Illumina HiSeq	Phase_I	O14525	ASTN1_HUMAN			21	3630	-			NA			Fibronectin type-III 1.		A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.3419G>A		.	.	.	.	.	.	.	.	.	.	C	36	5.786407	0.96937	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.16196	2.36;2.78;2.78;2.36	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.39489	0.1080	L	0.53249	1.67	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.75484	0.986;0.986	T	0.16041	-1.0416	10	0.72032	D	0.01	-17.3769	18.3051	0.90177	0.0:1.0:0.0:0.0	.	1132;1132	O14525-2;B1AJS1	.;.	Q	1132;1132;1140;1132;1132	ENSP00000356629:R1132Q;ENSP00000354536:R1132Q;ENSP00000356626:R1140Q;ENSP00000395041:R1132Q	ENSP00000354536:R1132Q	R	-	2	0	ASTN1	175112364	1.000000	0.71417	0.994000	0.49952	0.962000	0.63368	7.390000	0.79816	2.400000	0.81607	0.655000	0.94253	CGG		0.572	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		0	NM_004319		1:176845741
SPERT	220082	broad.mit.edu	37	13	46287859	46287859	+	Silent	SNP	C	C	T			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr13:46287859C>T	ENST00000310521.1	+	3	779	c.699C>T	c.(697-699)caC>caT	p.H233H	SPERT_ENST00000378966.3_Silent_p.H197H	NM_152719.1	NP_689932.1	Q8NA61	SPERT_HUMAN	spermatid associated	233						cytoplasmic membrane-bounded vesicle (GO:0016023)				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		AGAAGGACCACGTCGCCCTGC	0.682																																						ENST00000378966.3		NA																	0				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15						c.(589-591)caC>caT		spermatid associated							38.0	35.0	36.0					13																	46287859		2202	4298	6500	SO:0001819	synonymous_variant	220082					cytoplasmic membrane-bounded vesicle		g.chr13:46287859C>T	AK093129	CCDS9399.1, CCDS66540.1	13q14.13	2010-03-23			ENSG00000174015	ENSG00000174015			30720	protein-coding gene	gene with protein product	"""spermatid flower-like structure protein"", ""testis specific leucine zipper protein nurit"", ""chibby homolog 2 (Drosophila)"""					12204287, 20096028	Standard	NM_001286341		Approved	NURIT, CBY2	uc001van.1	Q8NA61	OTTHUMG00000016861	ENST00000310521.1:c.699C>T	13.37:g.46287859C>T		False	False		Somatic	0				SPERT_ENST00000310521.1_Silent_p.H233H	p.H197H			WXS	Illumina HiSeq	Phase_I	Q8NA61	SPERT_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)	2	1007	+		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	233					A8K8I5|Q8NHV2	Silent	SNP	ENST00000310521.1	37	c.591C>T	CCDS9399.1																																																																																				0.682	SPERT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044786.2	0	NM_152719		13:46287859
PLA2G4D	283748	broad.mit.edu	37	15	42362977	42362977	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr15:42362977G>A	ENST00000290472.3	-	18	2075	c.1981C>T	c.(1981-1983)Cgg>Tgg	p.R661W		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	661	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|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)|small molecule metabolic process (GO:0044281)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		CGGCCTGGCCGGAACATGGAG	0.657																																						ENST00000290472.3		NA																	0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27						c.(1981-1983)Cgg>Tgg		phospholipase A2, group IVD (cytosolic)							72.0	66.0	68.0					15																	42362977		2201	4298	6499	SO:0001583	missense	283748				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity	g.chr15:42362977G>A	AB090876	CCDS32203.1	15q14	2008-09-19				ENSG00000159337	3.1.1.4		30038	protein-coding gene	gene with protein product		612864				14709560	Standard	NM_178034		Approved	cPLA2delta	uc001zox.3	Q86XP0		ENST00000290472.3:c.1981C>T	15.37:g.42362977G>A	ENSP00000290472:p.Arg661Trp	False	False		Somatic	0					p.R661W	NM_178034.3	NP_828848.3	WXS	Illumina HiSeq	Phase_I	Q86XP0	PA24D_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)	18	2075	-		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)	661			PLA2c.		Q8N176	Missense_Mutation	SNP	ENST00000290472.3	37	c.1981C>T	CCDS32203.1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.711719	0.48517	.	.	ENSG00000159337	ENST00000290472	T	0.16073	2.37	4.46	3.54	0.40534	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (2);	0.216636	0.29884	N	0.010944	T	0.25680	0.0625	M	0.89715	3.055	0.42428	D	0.992664	B	0.17268	0.021	B	0.06405	0.002	T	0.14008	-1.0488	10	0.66056	D	0.02	-11.7079	7.7234	0.28746	0.0883:0.0:0.7119:0.1998	.	661	Q86XP0	PA24D_HUMAN	W	661	ENSP00000290472:R661W	ENSP00000290472:R661W	R	-	1	2	PLA2G4D	40150269	0.961000	0.32948	0.990000	0.47175	0.986000	0.74619	0.984000	0.29565	1.224000	0.43551	0.573000	0.79308	CGG		0.657	PLA2G4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419317.1	0	NM_178034		15:42362977
KRTAP9-3	83900	broad.mit.edu	37	17	39389124	39389124	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr17:39389124A>G	ENST00000411528.2	+	1	410	c.371A>G	c.(370-372)aAc>aGc	p.N124S		NM_031962.2	NP_114168.1	Q9BYQ3	KRA93_HUMAN	keratin associated protein 9-3	124	16 X 5 AA repeats of C-C-[RQVSHE]-[SPTN]- [TASPI].					keratin filament (GO:0045095)				breast(1)|endometrium(3)|lung(2)|ovary(1)|prostate(1)	8		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			TGTGGCTCCAACTGCTGCCAG	0.597																																						ENST00000411528.2		NA																	0				breast(1)|endometrium(3)|lung(2)|ovary(1)|prostate(1)	8						c.(370-372)aAc>aGc		keratin associated protein 9-3							112.0	135.0	127.0					17																	39389124		2103	4300	6403	SO:0001583	missense	83900					keratin filament	protein binding	g.chr17:39389124A>G	AJ406947	CCDS11385.1	17q21.2	2013-06-25			ENSG00000204873	ENSG00000204873		"""Keratin associated proteins"""	16927	protein-coding gene	gene with protein product						11279113	Standard	NM_031962		Approved	KAP9.3	uc021txg.1	Q9BYQ3	OTTHUMG00000133427	ENST00000411528.2:c.371A>G	17.37:g.39389124A>G	ENSP00000392189:p.Asn124Ser	False	False		Somatic	0					p.N124S	NM_031962.2	NP_114168.1	WXS	Illumina HiSeq	Phase_I	Q9BYQ3	KRA93_HUMAN	STAD - Stomach adenocarcinoma(17;0.000397)		1	410	+		Breast(137;0.000496)	124			16 X 5 AA repeats of C-C-[RQVSHE]-[SPTN]- [TASPI].			Missense_Mutation	SNP	ENST00000411528.2	37	c.371A>G	CCDS11385.1	.	.	.	.	.	.	.	.	.	.	.	0.008	-1.908407	0.00508	.	.	ENSG00000204873	ENST00000411528	T	0.01192	5.2	2.63	-3.44	0.04796	.	.	.	.	.	T	0.00271	0.0008	N	0.00165	-1.945	0.09310	N	1	.	.	.	.	.	.	T	0.47636	-0.9102	7	0.02654	T	1	.	0.8637	0.01198	0.2555:0.3318:0.2452:0.1675	.	.	.	.	S	124	ENSP00000392189:N124S	ENSP00000392189:N124S	N	+	2	0	KRTAP9-3	36642650	0.777000	0.28628	0.088000	0.20740	0.075000	0.17131	-0.265000	0.08644	-0.352000	0.08237	-1.366000	0.01203	AAC		0.597	KRTAP9-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257290.1	0			17:39389124
IRX6	79190	broad.mit.edu	37	16	55362807	55362807	+	Missense_Mutation	SNP	G	G	A	rs377555554		TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr16:55362807G>A	ENST00000290552.7	+	5	2249	c.917G>A	c.(916-918)cGc>cAc	p.R306H	RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	306					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						CGATTGGAGCGCAGGGAGTGC	0.662																																						ENST00000290552.7		NA																	0				breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						c.(916-918)cGc>cAc		iroquois homeobox 6							46.0	50.0	48.0					16																	55362807		2196	4297	6493	SO:0001583	missense	79190					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:55362807G>A	AF319966	CCDS32449.1	16q12.2	2011-06-20	2007-07-13	2003-01-10		ENSG00000159387		"""Homeoboxes / TALE class"""	14675	protein-coding gene	gene with protein product		606196	"""iroquois homeobox protein 7"", ""iroquois homeobox protein 6"""	IRX7			Standard	NM_024335		Approved	IRX-3	uc002ehy.3	P78412		ENST00000290552.7:c.917G>A	16.37:g.55362807G>A	ENSP00000290552:p.Arg306His	False	False		Somatic	0				RP11-26L20.3_ENST00000558730.2_RNA	p.R306H	NM_024335.2	NP_077311.2	WXS	Illumina HiSeq	Phase_I	P78412	IRX6_HUMAN			5	2249	+			306					B2RN06|Q7Z2K0	Missense_Mutation	SNP	ENST00000290552.7	37	c.917G>A	CCDS32449.1	.	.	.	.	.	.	.	.	.	.	G	18.82	3.704584	0.68615	.	.	ENSG00000159387	ENST00000290552	D	0.89939	-2.59	5.27	4.11	0.48088	.	0.618078	0.16748	N	0.201144	T	0.80407	0.4617	N	0.24115	0.695	0.09310	N	0.999997	D	0.56287	0.975	B	0.42062	0.374	T	0.72600	-0.4244	10	0.40728	T	0.16	-15.6593	9.6842	0.40089	0.111:0.0:0.889:0.0	.	306	P78412	IRX6_HUMAN	H	306	ENSP00000290552:R306H	ENSP00000290552:R306H	R	+	2	0	IRX6	53920308	0.000000	0.05858	1.000000	0.80357	0.893000	0.52053	0.202000	0.17295	2.463000	0.83235	0.462000	0.41574	CGC		0.662	IRX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417445.4	0	NM_024335		16:55362807
LEPREL2	10536	broad.mit.edu	37	12	6939687	6939687	+	RNA	SNP	G	G	A	rs536565960		TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr12:6939687G>A	ENST00000538102.1	+	0	40				LEPREL2_ENST00000396725.2_RNA|LEPREL2_ENST00000606935.1_RNA|LEPREL2_ENST00000251761.8_RNA			Q8IVL6	P3H3_HUMAN	leprecan-like 2						extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)	endoplasmic reticulum lumen (GO:0005788)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)			breast(1)|cervix(1)|endometrium(2)|lung(6)	10					L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	ATGGGGCTGCGAGCCAGGGGG	0.642																																						ENST00000251761.8		NA																	0				breast(1)|cervix(1)|endometrium(2)|lung(6)	10								leprecan-like 2							11.0	12.0	12.0					12																	6939687		1960	4121	6081			10536							g.chr12:6939687G>A	U47926	CCDS61027.1	12p13.31	2014-03-25			ENSG00000110811	ENSG00000110811			19318	protein-coding gene	gene with protein product	"""prolyl 3-hydroxylase 3"""	610342				15063763	Standard	NM_014262		Approved	GRCB, HSU47926, P3H3		Q8IVL6	OTTHUMG00000168516		12.37:g.6939687G>A		False	False		Somatic	0				LEPREL2_ENST00000538102.1_RNA|LEPREL2_ENST00000396725.2_RNA|LEPREL2_ENST00000606935.1_RNA		NM_014262.3	NP_055077.2	WXS	Illumina HiSeq	Phase_I					0	855	+			NA					Q13512|Q15740|Q66K32|Q6NX61|Q7L2T1	RNA	SNP	ENST00000538102.1	37																																																																																						0.642	LEPREL2-006	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000399998.1	0	NM_014262		12:6939687
SULT2B1	6820	broad.mit.edu	37	19	49079301	49079301	+	Missense_Mutation	SNP	C	C	T	rs371112055		TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr19:49079301C>T	ENST00000201586.2	+	2	353	c.175C>T	c.(175-177)Cgg>Tgg	p.R59W	SULT2B1_ENST00000323090.4_Missense_Mutation_p.R44W	NM_177973.1	NP_814444.1	O00204	ST2B1_HUMAN	sulfotransferase family, cytosolic, 2B, member 1	59					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	alcohol sulfotransferase activity (GO:0004027)|steroid sulfotransferase activity (GO:0050294)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	11		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178)		CCAAGATGTGCGGGACGACGA	0.632																																						ENST00000323090.4		NA																	0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	11						c.(130-132)Cgg>Tgg		sulfotransferase family, cytosolic, 2B, member 1		C	TRP/ARG,TRP/ARG	0,4406		0,0,2203	125.0	105.0	112.0		130,175	1.2	1.0	19		112	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SULT2B1	NM_004605.2,NM_177973.1	101,101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	44/351,59/366	49079301	1,13005	2203	4300	6503	SO:0001583	missense	6820				3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	alcohol sulfotransferase activity|protein binding|steroid sulfotransferase activity	g.chr19:49079301C>T	U92314	CCDS12723.1, CCDS12724.1	19q13.3	2008-02-05				ENSG00000088002		"""Sulfotransferases, cytosolic"""	11459	protein-coding gene	gene with protein product		604125				9799594	Standard	NM_177973		Approved	HSST2	uc002pjl.3	O00204		ENST00000201586.2:c.175C>T	19.37:g.49079301C>T	ENSP00000201586:p.Arg59Trp	True	False		Somatic	0				SULT2B1_ENST00000201586.2_Missense_Mutation_p.R59W	p.R44W	NM_004605.2	NP_004596.2	WXS	Illumina HiSeq	Phase_I	O00204	ST2B1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178)	1	505	+		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	59					O00205|O75814	Missense_Mutation	SNP	ENST00000201586.2	37	c.130C>T	CCDS12723.1	.	.	.	.	.	.	.	.	.	.	C	10.66	1.413766	0.25465	0.0	1.16E-4	ENSG00000088002	ENST00000201586;ENST00000323090	T;T	0.02421	4.3;4.3	4.61	1.17	0.20885	.	0.895653	0.09103	N	0.848233	T	0.01387	0.0045	N	0.14661	0.345	0.25224	N	0.989883	B;P	0.41008	0.412;0.735	B;B	0.20955	0.026;0.032	T	0.46541	-0.9184	10	0.87932	D	0	.	3.1284	0.06415	0.2122:0.5639:0.0:0.2239	.	44;59	O00204-2;O00204	.;ST2B1_HUMAN	W	59;44	ENSP00000201586:R59W;ENSP00000312880:R44W	ENSP00000201586:R59W	R	+	1	2	SULT2B1	53771113	0.078000	0.21339	0.973000	0.42090	0.141000	0.21300	-0.040000	0.12104	1.061000	0.40601	0.561000	0.74099	CGG		0.632	SULT2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466140.1	0	NM_004605		19:49079301
LDLRAD4	753	broad.mit.edu	37	18	13621266	13621266	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr18:13621266C>T	ENST00000359446.5	+	4	800	c.332C>T	c.(331-333)cCg>cTg	p.P111L	LDLRAD4_ENST00000585931.1_Missense_Mutation_p.P34L|LDLRAD4_ENST00000586765.1_Missense_Mutation_p.P74L|LDLRAD4_ENST00000399848.3_Missense_Mutation_p.P111L|LDLRAD4_ENST00000361205.4_Missense_Mutation_p.P111L|LDLRAD4_ENST00000587757.1_Missense_Mutation_p.P74L	NM_001276251.1	NP_001263180.1	O15165	LRAD4_HUMAN	low density lipoprotein receptor class A domain containing 4	111					negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	early endosome membrane (GO:0031901)|endosome (GO:0005768)|integral component of membrane (GO:0016021)	R-SMAD binding (GO:0070412)										GACGGGCTGCCGCAGGTGAGT	0.632																																						ENST00000361205.4		NA																	0					NA						c.(331-333)cCg>cTg		low density lipoprotein receptor class A domain containing 4							33.0	34.0	33.0					18																	13621266		2201	4295	6496	SO:0001583	missense	753							g.chr18:13621266C>T	AF009424, AF009428	CCDS32793.1, CCDS32794.1, CCDS32795.1, CCDS42415.1, CCDS62392.1, CCDS62393.1	18p11.21	2014-04-29	2012-10-24	2012-10-24	ENSG00000168675	ENSG00000168675			1224	protein-coding gene	gene with protein product	"""clone 22"""	606571	"""chromosome 18 open reading frame 1"""	C18orf1		9479497, 9129712, 24627487	Standard	NM_181482		Approved		uc002ksb.3	O15165	OTTHUMG00000181925	ENST00000359446.5:c.332C>T	18.37:g.13621266C>T	ENSP00000352420:p.Pro111Leu	False	False		Somatic	0				LDLRAD4_ENST00000585931.1_Missense_Mutation_p.P34L|LDLRAD4_ENST00000586765.1_Missense_Mutation_p.P74L|LDLRAD4_ENST00000399848.3_Missense_Mutation_p.P111L|LDLRAD4_ENST00000359446.5_Missense_Mutation_p.P111L|LDLRAD4_ENST00000587757.1_Missense_Mutation_p.P74L	p.P111L	NM_001276249.1|NM_181481.3	NP_001263178.1|NP_852146.1	WXS	Illumina HiSeq	Phase_I					5	1000	+			NA					B3KNT9|E9PAY9|K7EN38|O15166|O15167|O15168|Q5U646|Q6NXP3	Missense_Mutation	SNP	ENST00000359446.5	37	c.332C>T	CCDS32793.1	.	.	.	.	.	.	.	.	.	.	C	14.94	2.685198	0.47991	.	.	ENSG00000168675	ENST00000361205;ENST00000399848;ENST00000359446;ENST00000399847;ENST00000361303;ENST00000435606	T;T	0.26373	1.82;1.74	5.58	3.14	0.36123	.	0.056656	0.64402	D	0.000001	T	0.11452	0.0279	N	0.12182	0.205	0.45490	D	0.998456	B;P;B;P;B;P	0.39131	0.283;0.524;0.283;0.524;0.283;0.661	B;B;B;B;B;B	0.30401	0.057;0.115;0.057;0.115;0.023;0.079	T	0.11567	-1.0582	10	0.48119	T	0.1	10.5895	8.2551	0.31751	0.7156:0.1607:0.0:0.1237	.	53;53;74;74;111;111	O15165-4;O15165-3;E9PAY9;B3KNT9;O15165-2;O15165	.;.;.;.;.;CR001_HUMAN	L	111;111;74;74;53;53	ENSP00000354753:P111L;ENSP00000382741:P111L	ENSP00000352420:P74L	P	+	2	0	C18orf1	13611266	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	3.477000	0.53151	0.374000	0.24650	-0.274000	0.10170	CCG		0.632	LDLRAD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458326.1	0	NM_181481		18:13621266
TM9SF4	9777	broad.mit.edu	37	20	30749115	30749115	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr20:30749115G>A	ENST00000398022.2	+	17	1961	c.1726G>A	c.(1726-1728)Ggg>Agg	p.G576R	TM9SF4_ENST00000217315.5_Missense_Mutation_p.G559R	NM_014742.3	NP_055557.2	Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	576						integral component of membrane (GO:0016021)				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CCTAGTCTCCGGGGGCTCTGC	0.502																																						ENST00000217315.5		NA																	0				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1675-1677)Ggg>Agg		transmembrane 9 superfamily protein member 4							183.0	158.0	167.0					20																	30749115		2203	4300	6503	SO:0001583	missense	9777					integral to membrane		g.chr20:30749115G>A	BC021107	CCDS13196.2	20q11.21	2004-04-19			ENSG00000101337	ENSG00000101337			30797	protein-coding gene	gene with protein product						9039502	Standard	NM_014742		Approved	KIAA0255, dJ836N17.2	uc002wxj.2	Q92544	OTTHUMG00000032206	ENST00000398022.2:c.1726G>A	20.37:g.30749115G>A	ENSP00000381104:p.Gly576Arg	True	False		Somatic	0				TM9SF4_ENST00000398022.2_Missense_Mutation_p.G576R	p.G559R			WXS	Illumina HiSeq	Phase_I	Q92544	TM9S4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		17	2015	+			576					B0QYT7|Q9NUA3	Missense_Mutation	SNP	ENST00000398022.2	37	c.1675G>A	CCDS13196.2	.	.	.	.	.	.	.	.	.	.	G	34	5.362345	0.95877	.	.	ENSG00000101337	ENST00000398022;ENST00000217315	T;T	0.55413	0.52;0.52	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	D	0.82674	0.5088	H	0.97131	3.945	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.88401	0.3015	10	0.87932	D	0	-17.3153	18.9705	0.92713	0.0:0.0:1.0:0.0	.	483;576	B4DH88;Q92544	.;TM9S4_HUMAN	R	576;559	ENSP00000381104:G576R;ENSP00000217315:G559R	ENSP00000217315:G559R	G	+	1	0	TM9SF4	30212776	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.175000	0.94831	2.715000	0.92844	0.655000	0.94253	GGG		0.502	TM9SF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323568.1	0	NM_014742		20:30749115
LTBP1	4052	broad.mit.edu	37	2	33572565	33572565	+	Missense_Mutation	SNP	C	C	T	rs144093447		TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr2:33572565C>T	ENST00000404816.2	+	26	4341	c.3988C>T	c.(3988-3990)Cgg>Tgg	p.R1330W	LTBP1_ENST00000402934.1_Missense_Mutation_p.R951W|LTBP1_ENST00000272273.5_Missense_Mutation_p.R228W|LTBP1_ENST00000407925.1_Missense_Mutation_p.R1004W|LTBP1_ENST00000354476.3_Missense_Mutation_p.R1331W|LTBP1_ENST00000404525.1_Missense_Mutation_p.R951W|LTBP1_ENST00000418533.2_Missense_Mutation_p.R962W|LTBP1_ENST00000390003.4_Missense_Mutation_p.R1005W			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1330					extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)	p.R1331R(1)		breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GTGCCGCTCCCGGACCTCCAC	0.557													C|||	1	0.000199681	0.0	0.0	5008	,	,		21170	0.0		0.0	False		,,,				2504	0.001					ENST00000404816.2		NA																	1	Substitution - coding silent(1)	p.R1331R(1)	lung(1)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108						c.(3988-3990)Cgg>Tgg		latent transforming growth factor beta binding protein 1		C	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	1,4405		0,1,2202	168.0	158.0	161.0		3010,2884,2851,2725,3988	5.2	0.5	2	dbSNP_134	161	0,8600		0,0,4300	no	missense,missense,missense,missense,missense	LTBP1	NM_000627.3,NM_001166264.1,NM_001166265.1,NM_001166266.1,NM_206943.2	101,101,101,101,101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	1004/1396,962/1354,951/1343,909/1301,1330/1722	33572565	1,13005	2203	4300	6503	SO:0001583	missense	4052				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	g.chr2:33572565C>T		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.3988C>T	2.37:g.33572565C>T	ENSP00000386043:p.Arg1330Trp	True	False		Somatic	0				LTBP1_ENST00000390003.4_Missense_Mutation_p.R1005W|LTBP1_ENST00000272273.5_Missense_Mutation_p.R228W|LTBP1_ENST00000402934.1_Missense_Mutation_p.R951W|LTBP1_ENST00000407925.1_Missense_Mutation_p.R1004W|LTBP1_ENST00000354476.3_Missense_Mutation_p.R1331W|LTBP1_ENST00000404525.1_Missense_Mutation_p.R951W|LTBP1_ENST00000418533.2_Missense_Mutation_p.R962W	p.R1330W			WXS	Illumina HiSeq	Phase_I	Q14766	LTBP1_HUMAN			26	4341	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	1330					A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	ENST00000404816.2	37	c.3988C>T	CCDS33177.2	.	.	.	.	.	.	.	.	.	.	C	27.0	4.788854	0.90367	2.27E-4	0.0	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925;ENST00000272273;ENST00000422669	D;D;T;T;T;T;T;D;D	0.85339	-1.53;-1.52;-1.46;-1.41;-1.45;-1.42;-1.42;-1.97;-1.61	5.19	5.19	0.71726	.	.	.	.	.	D	0.90896	0.7139	L	0.55213	1.73	0.53005	D	0.999965	D;D;D;D;D;D;D	0.89917	0.998;0.998;1.0;0.972;0.971;0.987;0.999	P;P;D;P;P;P;P	0.75484	0.895;0.794;0.986;0.742;0.685;0.768;0.899	D	0.91362	0.5112	9	0.66056	D	0.02	.	19.0846	0.93198	0.0:1.0:0.0:0.0	.	228;1330;962;951;1004;1005;1331	E7EUU6;Q14766;E7EV71;Q14766-3;Q14766-2;Q14766-5;Q14766-4	.;LTBP1_HUMAN;.;.;.;.;.	W	1330;1331;1005;962;951;951;1004;228;166	ENSP00000386043:R1330W;ENSP00000346467:R1331W;ENSP00000374653:R1005W;ENSP00000393057:R962W;ENSP00000384373:R951W;ENSP00000385359:R951W;ENSP00000384091:R1004W;ENSP00000272273:R228W;ENSP00000395211:R166W	ENSP00000272273:R228W	R	+	1	2	LTBP1	33426069	0.493000	0.26035	0.536000	0.28039	0.799000	0.45148	2.319000	0.43788	2.594000	0.87642	0.561000	0.74099	CGG		0.557	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	0	NM_206943		2:33572565
LAMA4	3910	broad.mit.edu	37	6	112522827	112522827	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr6:112522827G>A	ENST00000230538.7	-	5	882	c.485C>T	c.(484-486)gCt>gTt	p.A162V	LAMA4_ENST00000524032.1_5'UTR|LAMA4_ENST00000522006.1_Missense_Mutation_p.A162V|LAMA4_ENST00000389463.4_Missense_Mutation_p.A162V|LAMA4_ENST00000424408.2_Missense_Mutation_p.A162V	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	162	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GTTAGGTCCAGCATAATTTTC	0.388																																						ENST00000230538.7		NA																	0				NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100						c.(484-486)gCt>gTt		laminin, alpha 4							282.0	295.0	291.0					6																	112522827		2203	4300	6503	SO:0001583	missense	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112522827G>A		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.485C>T	6.37:g.112522827G>A	ENSP00000230538:p.Ala162Val	False	False		Somatic	0				LAMA4_ENST00000524032.1_5'UTR|LAMA4_ENST00000389463.4_Missense_Mutation_p.A162V|LAMA4_ENST00000424408.2_Missense_Mutation_p.A162V|LAMA4_ENST00000522006.1_Missense_Mutation_p.A162V	p.A162V	NM_001105206.2	NP_001098676.2	WXS	Illumina HiSeq	Phase_I	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	5	882	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	162			Laminin EGF-like 2.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	c.485C>T	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.548413	0.65311	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408;ENST00000454881;ENST00000521398;ENST00000542588;ENST00000368639	T;T;T;T;T	0.62498	0.02;0.02;0.02;0.02;0.02	6.07	5.2	0.72013	EGF-like, laminin (4);	0.052287	0.85682	N	0.000000	T	0.26340	0.0643	L	0.28115	0.83	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.12156	0.007;0.004	T	0.19582	-1.0301	10	0.05833	T	0.94	.	14.1512	0.65387	0.07:0.0:0.93:0.0	.	162;162	Q16363;Q16363-2	LAMA4_HUMAN;.	V	162	ENSP00000230538:A162V;ENSP00000429488:A162V;ENSP00000374114:A162V;ENSP00000416470:A162V;ENSP00000430336:A162V	ENSP00000230538:A162V	A	-	2	0	LAMA4	112629520	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.525000	0.67110	1.547000	0.49401	0.655000	0.94253	GCT		0.388	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	0	NM_001105206		6:112522827
RCC2	55920	broad.mit.edu	37	1	17740096	17740096	+	Missense_Mutation	SNP	G	G	C			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr1:17740096G>C	ENST00000375436.4	-	9	1331	c.1144C>G	c.(1144-1146)Cct>Gct	p.P382A	AC004824.1_ENST00000583469.1_RNA|RCC2_ENST00000375433.3_Missense_Mutation_p.P382A	NM_018715.3	NP_061185.1	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2	382					chromosome passenger complex localization to kinetochore (GO:0072356)|endosome organization (GO:0007032)|focal adhesion assembly (GO:0048041)|integrin-mediated signaling pathway (GO:0007229)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of GTPase activity (GO:0034260)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of attachment of spindle microtubules to kinetochore (GO:0051987)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|regulation of cell migration (GO:0030334)	chromosome, centromeric core domain (GO:0034506)|cytosol (GO:0005829)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|Rac GTPase binding (GO:0048365)			breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		CCACGCCCAGGGAAGTCAAAC	0.582																																						ENST00000375436.4		NA																	0				breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17						c.(1144-1146)Cct>Gct		regulator of chromosome condensation 2							77.0	80.0	79.0					1																	17740096		2203	4300	6503	SO:0001583	missense	55920				cell division|mitotic prometaphase	chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle		g.chr1:17740096G>C		CCDS181.1	1p36.13	2010-05-05			ENSG00000179051	ENSG00000179051			30297	protein-coding gene	gene with protein product		609587				10819331, 12919680	Standard	NM_018715		Approved	TD-60	uc001bal.3	Q9P258	OTTHUMG00000002513	ENST00000375436.4:c.1144C>G	1.37:g.17740096G>C	ENSP00000364585:p.Pro382Ala	True	False		Somatic	0				RCC2_ENST00000375433.3_Missense_Mutation_p.P382A	p.P382A	NM_018715.3	NP_061185.1	WXS	Illumina HiSeq	Phase_I	Q9P258	RCC2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)	9	1331	-		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	382					Q8IVL9|Q9BSN6|Q9NPV8	Missense_Mutation	SNP	ENST00000375436.4	37	c.1144C>G	CCDS181.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.877573	0.91664	.	.	ENSG00000179051	ENST00000375436;ENST00000375433	T;T	0.79749	-1.3;-1.3	5.4	5.4	0.78164	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.83124	0.5186	L	0.35341	1.055	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.76342	-0.2994	10	0.07482	T	0.82	-25.2313	18.1015	0.89507	0.0:0.0:1.0:0.0	.	382	Q9P258	RCC2_HUMAN	A	382	ENSP00000364585:P382A;ENSP00000364582:P382A	ENSP00000364582:P382A	P	-	1	0	RCC2	17612683	1.000000	0.71417	0.997000	0.53966	0.956000	0.61745	9.831000	0.99420	2.687000	0.91594	0.655000	0.94253	CCT		0.582	RCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007144.1	0	NM_018715		1:17740096
RYR1	6261	broad.mit.edu	37	19	39016037	39016037	+	Silent	SNP	G	G	A			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr19:39016037G>A	ENST00000359596.3	+	71	10521	c.10521G>A	c.(10519-10521)acG>acA	p.T3507T	RYR1_ENST00000355481.4_Silent_p.T3502T|AC067969.1_ENST00000597015.1_RNA|RYR1_ENST00000360985.3_Silent_p.T3507T			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3507					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CTGTGCAGACGTCACTGATCG	0.627																																						ENST00000355481.4		NA																	0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(10504-10506)acG>acA		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						120.0	116.0	117.0					19																	39016037		2203	4300	6503	SO:0001819	synonymous_variant	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:39016037G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.10521G>A	19.37:g.39016037G>A		False	False		Somatic	0				RYR1_ENST00000359596.3_Silent_p.T3507T|RYR1_ENST00000360985.3_Silent_p.T3507T	p.T3502T	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	WXS	Illumina HiSeq	Phase_I	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		70	10637	+	all_cancers(60;7.91e-06)		3507					Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	c.10506G>A	CCDS33011.1																																																																																				0.627	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1	0			19:39016037
TET2	54790	broad.mit.edu	37	4	106155430	106155430	+	Nonsense_Mutation	SNP	A	A	T			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr4:106155430A>T	ENST00000540549.1	+	3	1191	c.331A>T	c.(331-333)Aaa>Taa	p.K111*	TET2_ENST00000545826.1_Nonsense_Mutation_p.K111*|TET2_ENST00000513237.1_Nonsense_Mutation_p.K132*|TET2_ENST00000413648.2_Nonsense_Mutation_p.K111*|TET2_ENST00000394764.1_Nonsense_Mutation_p.K111*|TET2_ENST00000305737.2_Nonsense_Mutation_p.K111*|TET2_ENST00000380013.4_Nonsense_Mutation_p.K111*			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	111					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)	p.L107fs*8(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		TCAGATCAAGAAATTGAAACA	0.413			"""Mis N, F"""		MDS																																	ENST00000540549.1		NA		Rec	yes		4	4q24	54790	"""Mis N, F"""	tet oncogene family member 2			L			MDS		1	Deletion - Frameshift(1)	p.L107fs*8(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314						c.(331-333)Aaa>Taa		tet methylcytosine dioxygenase 2							61.0	59.0	60.0					4																	106155430		2203	4300	6503	SO:0001587	stop_gained	54790				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr4:106155430A>T	AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"""KIAA1546"", ""tet oncogene family member 2"""	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.331A>T	4.37:g.106155430A>T	ENSP00000442788:p.Lys111*	True	False		Somatic	0				TET2_ENST00000545826.1_Nonsense_Mutation_p.K111*|TET2_ENST00000305737.2_Nonsense_Mutation_p.K111*|TET2_ENST00000513237.1_Nonsense_Mutation_p.K132*|TET2_ENST00000413648.2_Nonsense_Mutation_p.K111*|TET2_ENST00000380013.4_Nonsense_Mutation_p.K111*|TET2_ENST00000394764.1_Nonsense_Mutation_p.K111*	p.K111*			WXS	Illumina HiSeq	Phase_I	Q6N021	TET2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)	3	1191	+		Myeloproliferative disorder(5;0.0393)	111					B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Nonsense_Mutation	SNP	ENST00000540549.1	37	c.331A>T	CCDS47120.1	.	.	.	.	.	.	.	.	.	.	A	35	5.499172	0.96355	.	.	ENSG00000168769	ENST00000305737;ENST00000540549;ENST00000545826;ENST00000513237;ENST00000380013;ENST00000394764;ENST00000413648;ENST00000535110	.	.	.	5.51	5.51	0.81932	.	0.464604	0.16713	N	0.202570	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.6604	0.77182	1.0:0.0:0.0:0.0	.	.	.	.	X	111;111;111;132;111;111;111;111	.	ENSP00000265149:K111X	K	+	1	0	TET2	106374879	1.000000	0.71417	0.891000	0.34965	0.970000	0.65996	6.405000	0.73272	2.095000	0.63458	0.528000	0.53228	AAA		0.413	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2	0	NM_017628		4:106155430
ACSS3	79611	broad.mit.edu	37	12	81647110	81647110	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr12:81647110G>A	ENST00000548058.1	+	14	2654	c.1744G>A	c.(1744-1746)Gca>Aca	p.A582T	ACSS3_ENST00000261206.3_Missense_Mutation_p.A581T|ACSS3_ENST00000548324.1_Missense_Mutation_p.A264T			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	582						mitochondrion (GO:0005739)	acetate-CoA ligase activity (GO:0003987)|ATP binding (GO:0005524)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						TGGTACCGTGGCAGACTGTGC	0.373																																						ENST00000548058.1		NA																	0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						c.(1744-1746)Gca>Aca		acyl-CoA synthetase short-chain family member 3							232.0	225.0	227.0					12																	81647110		2203	4300	6503	SO:0001583	missense	79611					mitochondrion	acetate-CoA ligase activity|ATP binding	g.chr12:81647110G>A		CCDS9022.1	12q21.31	2014-08-08			ENSG00000111058	ENSG00000111058		"""Acyl-CoA synthetase family"""	24723	protein-coding gene	gene with protein product		614356				17762044	Standard	NM_024560		Approved	FLJ21963	uc001szl.1	Q9H6R3	OTTHUMG00000170179	ENST00000548058.1:c.1744G>A	12.37:g.81647110G>A	ENSP00000449535:p.Ala582Thr	False	False		Somatic	0				ACSS3_ENST00000548324.1_Missense_Mutation_p.A264T|ACSS3_ENST00000261206.3_Missense_Mutation_p.A581T	p.A582T			WXS	Illumina HiSeq	Phase_I	Q9H6R3	ACSS3_HUMAN			14	2654	+			582					Q8NC66	Missense_Mutation	SNP	ENST00000548058.1	37	c.1744G>A	CCDS9022.1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.395361	0.62066	.	.	ENSG00000111058	ENST00000548058;ENST00000261206;ENST00000548324	T;T;T	0.62105	0.05;0.05;0.05	6.0	4.17	0.49024	AMP-dependent synthetase/ligase (1);	0.383935	0.28809	N	0.014067	T	0.63522	0.2518	M	0.81179	2.53	0.37366	D	0.911421	B;B	0.32526	0.374;0.0	B;B	0.29267	0.1;0.003	T	0.69614	-0.5098	10	0.72032	D	0.01	-0.5583	13.4013	0.60885	0.1288:0.0:0.8712:0.0	.	264;582	Q9H6R3-2;Q9H6R3	.;ACSS3_HUMAN	T	582;581;264	ENSP00000449535:A582T;ENSP00000261206:A581T;ENSP00000448965:A264T	ENSP00000261206:A581T	A	+	1	0	ACSS3	80171241	1.000000	0.71417	0.279000	0.24732	0.981000	0.71138	5.191000	0.65110	0.869000	0.35703	-0.261000	0.10672	GCA		0.373	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407794.1	0	NM_024560		12:81647110
CUL1	8454	broad.mit.edu	37	7	148427298	148427298	+	Silent	SNP	C	C	A			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr7:148427298C>A	ENST00000325222.4	+	2	363	c.84C>A	c.(82-84)atC>atA	p.I28I	CUL1_ENST00000409469.1_Silent_p.I28I|AC005229.1_ENST00000578165.1_RNA|CUL1_ENST00000602748.1_Silent_p.I28I	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	28					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|SCF ubiquitin ligase complex (GO:0019005)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			GAGCCGGCATCCAGCAGGTGT	0.547																																						ENST00000325222.4		NA																	0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40						c.(82-84)atC>atA		cullin 1							103.0	90.0	94.0					7																	148427298		2203	4300	6503	SO:0001819	synonymous_variant	8454				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr7:148427298C>A	U58087	CCDS34772.1	7q36.1	2011-05-24			ENSG00000055130	ENSG00000055130			2551	protein-coding gene	gene with protein product		603134				8681378	Standard	NM_003592		Approved		uc003wey.3	Q13616	OTTHUMG00000152776	ENST00000325222.4:c.84C>A	7.37:g.148427298C>A		False	False		Somatic	0				CUL1_ENST00000409469.1_Silent_p.I28I|CUL1_ENST00000602748.1_Silent_p.I28I	p.I28I	NM_003592.2	NP_003583.2	WXS	Illumina HiSeq	Phase_I	Q13616	CUL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)		2	363	+	Melanoma(164;0.15)		28					D3DWG3|O60719|Q08AL6|Q8IYW1	Silent	SNP	ENST00000325222.4	37	c.84C>A	CCDS34772.1																																																																																				0.547	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467785.1	0	NM_003592		7:148427298
ST6GALNAC6	30815	broad.mit.edu	37	9	130649855	130649855	+	Silent	SNP	C	C	T	rs368787289		TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr9:130649855C>T	ENST00000373146.1	-	6	899	c.720G>A	c.(718-720)tcG>tcA	p.S240S	ST6GALNAC6_ENST00000373141.1_Silent_p.S206S|RP11-203J24.9_ENST00000476274.2_RNA|ST6GALNAC6_ENST00000373144.3_Silent_p.S206S|ST6GALNAC6_ENST00000542456.1_Silent_p.S40S|ST6GALNAC6_ENST00000291839.5_Silent_p.S240S|ST6GALNAC6_ENST00000485320.1_5'UTR|ST6GALNAC6_ENST00000373142.1_Silent_p.S240S			Q969X2	SIA7F_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6	240					cell-cell recognition (GO:0009988)|ganglioside biosynthetic process (GO:0001574)|glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TGCTCAACCACGAATGAGACT	0.597																																						ENST00000373146.1		NA																	0				endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(718-720)tcG>tcA		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6		C		0,4404		0,0,2202	167.0	93.0	118.0		720	-7.8	0.5	9		118	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ST6GALNAC6	NM_013443.3		0,1,6501	TT,TC,CC		0.0116,0.0,0.0077		240/334	130649855	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	30815				protein glycosylation	integral to Golgi membrane|plasma membrane		g.chr9:130649855C>T	BC006564	CCDS6882.1, CCDS69668.1, CCDS69669.1, CCDS75908.1	9q34.13	2013-03-01		2005-02-07	ENSG00000160408	ENSG00000160408		"""Sialyltransferases"""	23364	protein-coding gene	gene with protein product		610135	"""sialytransferase 7 ((alpha-N-acetylneuraminyl 2,3-betagalactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialytransferase) F"""	SIAT7F		12668675	Standard	XM_005251952		Approved	ST6GALNACVI	uc004bso.1	Q969X2	OTTHUMG00000020718	ENST00000373146.1:c.720G>A	9.37:g.130649855C>T		False	False		Somatic	0				ST6GALNAC6_ENST00000373141.1_Silent_p.S206S|ST6GALNAC6_ENST00000291839.5_Silent_p.S240S|ST6GALNAC6_ENST00000485320.1_5'UTR|ST6GALNAC6_ENST00000373144.3_Silent_p.S206S|ST6GALNAC6_ENST00000373142.1_Silent_p.S240S|ST6GALNAC6_ENST00000542456.1_Silent_p.S40S	p.S240S			WXS	Illumina HiSeq	Phase_I	Q969X2	SIA7F_HUMAN			6	899	-			240					B3KQ01|Q5T9C4|Q5T9C5|Q9H8A2|Q9ULB8	Silent	SNP	ENST00000373146.1	37	c.720G>A	CCDS6882.1																																																																																				0.597	ST6GALNAC6-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054278.1	0	NM_013443		9:130649855
LRRIQ3	127255	broad.mit.edu	37	1	74507071	74507071	+	Missense_Mutation	SNP	C	C	T	rs534493116	byFrequency	TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr1:74507071C>T	ENST00000395089.1	-	6	1543	c.1544G>A	c.(1543-1545)cGt>cAt	p.R515H	LRRIQ3_ENST00000354431.4_Missense_Mutation_p.R515H			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	515								p.R515H(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						AACTAATAAACGCTCTGAAGC	0.363													C|||	2	0.000399361	0.0	0.0029	5008	,	,		15266	0.0		0.0	False		,,,				2504	0.0					ENST00000354431.4		NA																	1	Substitution - Missense(1)	p.R515H(1)	large_intestine(1)	NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						c.(1543-1545)cGt>cAt		leucine-rich repeats and IQ motif containing 3							102.0	100.0	101.0					1																	74507071		1797	4070	5867	SO:0001583	missense	127255							g.chr1:74507071C>T	BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"""leucine rich repeat containing 44"""	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.1544G>A	1.37:g.74507071C>T	ENSP00000378524:p.Arg515His	True	False		Somatic	0				LRRIQ3_ENST00000395089.1_Missense_Mutation_p.R515H	p.R515H	NM_001105659.1	NP_001099129.1	WXS	Illumina HiSeq	Phase_I	A6PVS8	LRIQ3_HUMAN			7	1735	-			515					A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Missense_Mutation	SNP	ENST00000395089.1	37	c.1544G>A	CCDS41350.1	.	.	.	.	.	.	.	.	.	.	C	6.084	0.383714	0.11524	.	.	ENSG00000162620	ENST00000395089;ENST00000354431	T;T	0.10382	2.88;2.88	5.86	2.52	0.30459	.	.	.	.	.	T	0.02047	0.0064	L	0.29908	0.895	0.09310	N	1	B	0.34255	0.445	B	0.20184	0.028	T	0.44452	-0.9327	9	0.35671	T	0.21	.	8.4238	0.32716	0.0:0.7631:0.0:0.2369	.	515	A6PVS8	LRIQ3_HUMAN	H	515	ENSP00000378524:R515H;ENSP00000346414:R515H	ENSP00000346414:R515H	R	-	2	0	LRRIQ3	74279659	0.273000	0.24181	0.016000	0.15963	0.029000	0.11900	0.609000	0.24238	0.295000	0.22570	0.650000	0.86243	CGT		0.363	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	0	NM_145258		1:74507071
ZC3H12C	85463	broad.mit.edu	37	11	110007605	110007605	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr11:110007605C>T	ENST00000278590.3	+	2	290	c.239C>T	c.(238-240)gCg>gTg	p.A80V	ZC3H12C_ENST00000528673.1_Missense_Mutation_p.A81V|ZC3H12C_ENST00000453089.2_Missense_Mutation_p.A49V	NM_033390.1	NP_203748.1	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	80							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)	p.A80V(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		GAAAAAGAGGCGTCTGAAGAG	0.448																																						ENST00000453089.2		NA																	1	Substitution - Missense(1)	p.A80V(1)	large_intestine(1)	endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(145-147)gCg>gTg		zinc finger CCCH-type containing 12C							61.0	58.0	59.0					11																	110007605		1946	4152	6098	SO:0001583	missense	85463						endonuclease activity|nucleic acid binding|zinc ion binding	g.chr11:110007605C>T		CCDS44727.1	11q22.3	2012-07-05			ENSG00000149289	ENSG00000149289		"""Zinc fingers, CCCH-type domain containing"""	29362	protein-coding gene	gene with protein product	"""MCP induced protein 3"""	615001				11214970, 18178554	Standard	NM_033390		Approved	KIAA1726, MCPIP3	uc009yxw.3	Q9C0D7	OTTHUMG00000166572	ENST00000278590.3:c.239C>T	11.37:g.110007605C>T	ENSP00000278590:p.Ala80Val	False	False		Somatic	0				ZC3H12C_ENST00000528673.1_Missense_Mutation_p.A81V|ZC3H12C_ENST00000278590.3_Missense_Mutation_p.A80V	p.A49V			WXS	Illumina HiSeq	Phase_I	Q9C0D7	ZC12C_HUMAN		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)	1	1027	+		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	80					B4DI65|B4DR47	Missense_Mutation	SNP	ENST00000278590.3	37	c.146C>T	CCDS44727.1	.	.	.	.	.	.	.	.	.	.	t	8.666	0.901758	0.17760	.	.	ENSG00000149289	ENST00000278590;ENST00000528673;ENST00000453089	T;T;T	0.30981	1.51;1.51;1.51	5.62	5.62	0.85841	.	.	.	.	.	T	0.07234	0.0183	N	0.00289	-1.7	0.09310	N	0.999998	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.31530	-0.9940	9	0.11182	T	0.66	-1.0609	6.3914	0.21589	0.0:0.2884:0.0:0.7116	.	81;80;80	B4DR47;B4DI65;Q9C0D7	.;.;ZC12C_HUMAN	V	80;81;49	ENSP00000278590:A80V;ENSP00000431821:A81V;ENSP00000413094:A49V	ENSP00000278590:A80V	A	+	2	0	ZC3H12C	109512815	0.021000	0.18746	1.000000	0.80357	0.098000	0.18820	0.260000	0.18424	0.966000	0.38159	-0.269000	0.10298	GCG		0.448	ZC3H12C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390491.1	0	NM_033390		11:110007605
FAM169B	283777	broad.mit.edu	37	15	98995216	98995216	+	Missense_Mutation	SNP	C	C	T	rs557283476	byFrequency	TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr15:98995216C>T	ENST00000558256.1	-	5	457	c.208G>A	c.(208-210)Ggt>Agt	p.G70S	FAM169B_ENST00000332908.4_Missense_Mutation_p.G70S	NM_182562.2	NP_872368.2	Q8N8A8	F169B_HUMAN	family with sequence similarity 169, member B	70										large_intestine(3)|lung(3)|urinary_tract(1)	7						TAGCATGCACCGGTGCCATCA	0.592													C|||	9	0.00179712	0.0	0.0	5008	,	,		20208	0.0		0.0	False		,,,				2504	0.0092					ENST00000558256.1		NA																	0				large_intestine(3)|lung(3)|urinary_tract(1)	7						c.(208-210)Ggt>Agt		family with sequence similarity 169, member B							68.0	76.0	73.0					15																	98995216		2100	4230	6330	SO:0001583	missense	283777							g.chr15:98995216C>T		CCDS45360.1	15q26.3	2008-08-08			ENSG00000185087	ENSG00000185087			26835	protein-coding gene	gene with protein product							Standard	NM_182562		Approved	FLJ39743, KIAA0888L	uc002buk.1	Q8N8A8		ENST00000558256.1:c.208G>A	15.37:g.98995216C>T	ENSP00000453554:p.Gly70Ser	False	False		Somatic	0				FAM169B_ENST00000332908.4_Missense_Mutation_p.G70S	p.G70S	NM_182562.2	NP_872368.2	WXS	Illumina HiSeq	Phase_I	Q8N8A8	F169B_HUMAN			5	457	-			70					B5MDL8	Missense_Mutation	SNP	ENST00000558256.1	37	c.208G>A	CCDS45360.1	.	.	.	.	.	.	.	.	.	.	C	2.568	-0.300196	0.05532	.	.	ENSG00000185087	ENST00000332908	T	0.12039	2.72	4.53	1.29	0.21616	.	0.284924	0.33980	N	0.004373	T	0.05456	0.0144	L	0.27053	0.805	0.09310	N	1	P	0.40638	0.725	B	0.31290	0.127	T	0.33497	-0.9866	10	0.12766	T	0.61	-2.8104	4.1212	0.10106	0.1846:0.5603:0.0:0.2552	.	70	Q8N8A8	F169B_HUMAN	S	70	ENSP00000332615:G70S	ENSP00000332615:G70S	G	-	1	0	FAM169B	96812739	0.000000	0.05858	0.001000	0.08648	0.032000	0.12392	0.072000	0.14617	0.515000	0.28320	0.650000	0.86243	GGT		0.592	FAM169B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415488.1	0	NM_182562		15:98995216
KCNQ3	3786	broad.mit.edu	37	8	133150166	133150166	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr8:133150166C>T	ENST00000388996.4	-	12	2086	c.1666G>A	c.(1666-1668)Gac>Aac	p.D556N	KCNQ3_ENST00000521134.1_Missense_Mutation_p.D436N|KCNQ3_ENST00000519445.1_Missense_Mutation_p.D556N	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	556					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	GAAAGCATGTCGAGATGCCCG	0.453																																						ENST00000388996.4		NA																	0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70						c.(1666-1668)Gac>Aac		potassium voltage-gated channel, KQT-like subfamily, member 3							141.0	129.0	133.0					8																	133150166		2203	4300	6503	SO:0001583	missense	3786				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:133150166C>T	AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.1666G>A	8.37:g.133150166C>T	ENSP00000373648:p.Asp556Asn	False	False		Somatic	0				KCNQ3_ENST00000521134.1_Missense_Mutation_p.D436N|KCNQ3_ENST00000519445.1_Missense_Mutation_p.D556N	p.D556N	NM_004519.3	NP_004510.1	WXS	Illumina HiSeq	Phase_I	O43525	KCNQ3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		12	2086	-	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		556					A2VCT8|B4DJY4|E7EQ89	Missense_Mutation	SNP	ENST00000388996.4	37	c.1666G>A	CCDS34943.1	.	.	.	.	.	.	.	.	.	.	C	35	5.507800	0.96386	.	.	ENSG00000184156	ENST00000388996;ENST00000521134;ENST00000519445;ENST00000542679;ENST00000423790	D;D;D	0.99758	-6.65;-6.65;-6.65	5.46	5.46	0.80206	Potassium channel, voltage dependent, KCNQ, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99527	0.9831	L	0.33093	0.98	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98336	1.0536	10	0.87932	D	0	-28.2666	18.6955	0.91599	0.0:1.0:0.0:0.0	.	556;556	E7ET42;O43525	.;KCNQ3_HUMAN	N	556;436;556;545;435	ENSP00000373648:D556N;ENSP00000429799:D436N;ENSP00000428790:D556N	ENSP00000373648:D556N	D	-	1	0	KCNQ3	133219348	1.000000	0.71417	0.964000	0.40570	0.962000	0.63368	7.818000	0.86416	2.733000	0.93635	0.655000	0.94253	GAC		0.453	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	0	NM_004519		8:133150166
ZNF831	128611	broad.mit.edu	37	20	57769239	57769239	+	Silent	SNP	G	G	A			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr20:57769239G>A	ENST00000371030.2	+	1	3165	c.3165G>A	c.(3163-3165)ccG>ccA	p.P1055P		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1055							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CCTCCTCCCCGCCCACTCCAA	0.647																																						ENST00000371030.2		NA																	0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125						c.(3163-3165)ccG>ccA		zinc finger protein 831							24.0	29.0	27.0					20																	57769239		2073	4218	6291	SO:0001819	synonymous_variant	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57769239G>A	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.3165G>A	20.37:g.57769239G>A		True	False		Somatic	0					p.P1055P	NM_178457.1	NP_848552.1	WXS	Illumina HiSeq	Phase_I	Q5JPB2	ZN831_HUMAN			1	3165	+	all_lung(29;0.0085)		1055					Q5TDR4|Q8TCP0	Silent	SNP	ENST00000371030.2	37	c.3165G>A	CCDS42894.1																																																																																				0.647	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	0	NM_178457		20:57769239
PRKD2	25865	broad.mit.edu	37	19	47193872	47193872	+	Silent	SNP	T	T	C			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr19:47193872T>C	ENST00000291281.4	-	13	2019	c.1794A>G	c.(1792-1794)gaA>gaG	p.E598E	PRKD2_ENST00000595515.1_Silent_p.E598E|PRKD2_ENST00000600194.1_Silent_p.E441E|PRKD2_ENST00000601806.1_Silent_p.E441E|RN7SL364P_ENST00000473668.2_RNA|PRKD2_ENST00000433867.1_Silent_p.E598E			Q9BZL6	KPCD2_HUMAN	protein kinase D2	598	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		GAATGGCCACTTCATTCCGGA	0.577																																						ENST00000433867.1		NA																	0				central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41						c.(1792-1794)gaA>gaG		protein kinase D2							115.0	102.0	106.0					19																	47193872		2203	4300	6503	SO:0001819	synonymous_variant	25865				cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity	g.chr19:47193872T>C	AF151021	CCDS12689.1, CCDS59401.1	19q13.2	2013-01-10				ENSG00000105287		"""Pleckstrin homology (PH) domain containing"""	17293	protein-coding gene	gene with protein product		607074				11042152, 11062248	Standard	NM_001079880		Approved	PKD2, HSPC187, DKFZP586E0820	uc002pfj.3	Q9BZL6		ENST00000291281.4:c.1794A>G	19.37:g.47193872T>C		False	False		Somatic	0				PRKD2_ENST00000291281.4_Silent_p.E598E|PRKD2_ENST00000600194.1_Silent_p.E441E|PRKD2_ENST00000601806.1_Silent_p.E441E|PRKD2_ENST00000595515.1_Silent_p.E598E	p.E598E	NM_001079880.1|NM_001079881.1|NM_016457.4	NP_001073349|NP_001073350|NP_057541	WXS	Illumina HiSeq	Phase_I	Q9BZL6	KPCD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)	14	2271	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	598			Protein kinase.		Q8TB08|Q9P0T6|Q9Y3X8	Silent	SNP	ENST00000291281.4	37	c.1794A>G	CCDS12689.1																																																																																				0.577	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466591.1	0	NM_016457		19:47193872
RNF152	220441	broad.mit.edu	37	18	59483165	59483165	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr18:59483165C>T	ENST00000312828.3	-	2	1631	c.532G>A	c.(532-534)Gtc>Atc	p.V178I		NM_173557.2	NP_775828.1	Q8N8N0	RN152_HUMAN	ring finger protein 152	178					apoptotic process (GO:0006915)|protein K48-linked ubiquitination (GO:0070936)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)	17		Colorectal(73;0.186)				AAGACCAAGACGCAAGCCACC	0.592																																						ENST00000312828.3		NA																	0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)	17						c.(532-534)Gtc>Atc		ring finger protein 152							133.0	120.0	125.0					18																	59483165		2203	4300	6503	SO:0001583	missense	220441				apoptosis|protein K48-linked ubiquitination	integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr18:59483165C>T	AK096495	CCDS11978.1	18q21.33	2013-01-09			ENSG00000176641	ENSG00000176641		"""RING-type (C3HC4) zinc fingers"""	26811	protein-coding gene	gene with protein product							Standard	XM_005266650		Approved	FLJ39176	uc002lih.1	Q8N8N0	OTTHUMG00000132774	ENST00000312828.3:c.532G>A	18.37:g.59483165C>T	ENSP00000316628:p.Val178Ile	False	False		Somatic	0					p.V178I	NM_173557.2	NP_775828.1	WXS	Illumina HiSeq	Phase_I	Q8N8N0	RN152_HUMAN			2	1631	-		Colorectal(73;0.186)	178					B3KV99|Q52LA4	Missense_Mutation	SNP	ENST00000312828.3	37	c.532G>A	CCDS11978.1	.	.	.	.	.	.	.	.	.	.	C	13.78	2.338338	0.41398	.	.	ENSG00000176641	ENST00000312828	D	0.84146	-1.81	4.69	4.69	0.59074	.	0.069218	0.56097	D	0.000024	T	0.75817	0.3901	N	0.17082	0.46	0.47862	D	0.999534	B	0.20550	0.046	B	0.14023	0.01	T	0.70733	-0.4791	10	0.32370	T	0.25	-0.1111	17.8094	0.88611	0.0:1.0:0.0:0.0	.	178	Q8N8N0	RN152_HUMAN	I	178	ENSP00000316628:V178I	ENSP00000316628:V178I	V	-	1	0	RNF152	57634145	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	5.036000	0.64164	2.461000	0.83175	0.563000	0.77884	GTC		0.592	RNF152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256180.1	0	NM_173557		18:59483165
DNAH5	1767	broad.mit.edu	37	5	13900472	13900472	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr5:13900472G>A	ENST00000265104.4	-	15	2206	c.2102C>T	c.(2101-2103)cCa>cTa	p.P701L	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	701	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)					CCCTGTGCCTGGAGCCTTCAC	0.413									Kartagener syndrome																													ENST00000265104.4		NA																	0				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						c.(2101-2103)cCa>cTa		dynein, axonemal, heavy chain 5							72.0	74.0	73.0					5																	13900472		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.chr5:13900472G>A	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.2102C>T	5.37:g.13900472G>A	ENSP00000265104:p.Pro701Leu	False	False		Somatic	0					p.P701L	NM_001369.2	NP_001360.1	WXS	Illumina HiSeq	Phase_I	Q8TE73	DYH5_HUMAN			15	2206	-	Lung NSC(4;0.00476)		701			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.2102C>T	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.365928	0.61513	.	.	ENSG00000039139	ENST00000265104	T	0.55413	0.52	5.5	5.5	0.81552	Dynein heavy chain, domain-1 (1);	0.108809	0.64402	D	0.000006	T	0.67363	0.2885	M	0.85542	2.76	0.80722	D	1	B	0.31655	0.334	B	0.41174	0.349	T	0.67998	-0.5525	10	0.44086	T	0.13	.	19.3805	0.94530	0.0:0.0:1.0:0.0	.	701	Q8TE73	DYH5_HUMAN	L	701	ENSP00000265104:P701L	ENSP00000265104:P701L	P	-	2	0	DNAH5	13953472	1.000000	0.71417	0.900000	0.35374	0.939000	0.58152	7.508000	0.81686	2.583000	0.87209	0.650000	0.86243	CCA		0.413	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	0	NM_001369		5:13900472
PSTK	118672	broad.mit.edu	37	10	124746879	124746879	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr10:124746879T>C	ENST00000368887.3	+	6	1347	c.907T>C	c.(907-909)Ttt>Ctt	p.F303L	PSTK_ENST00000405485.1_3'UTR|PSTK_ENST00000497219.1_3'UTR	NM_153336.2	NP_699167.2	Q8IV42	PSTK_HUMAN	phosphoseryl-tRNA kinase	303					selenocysteine incorporation (GO:0001514)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|tRNA binding (GO:0000049)			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|skin(1)|stomach(2)	13		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0725)		agagatgacatttaagcaaag	0.423																																						ENST00000368887.3		NA																	0				endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|skin(1)|stomach(2)	13						c.(907-909)Ttt>Ctt		phosphoseryl-tRNA kinase							98.0	91.0	93.0					10																	124746879		2203	4300	6503	SO:0001583	missense	118672						ATP binding|kinase activity	g.chr10:124746879T>C	AK127173	CCDS7633.1	10q26.13	2007-04-17	2007-04-17	2007-04-17	ENSG00000179988	ENSG00000179988			28578	protein-coding gene	gene with protein product		611310	"""chromosome 10 open reading frame 89"""	C10orf89		15317934	Standard	NM_153336		Approved	MGC35392	uc001lgy.1	Q8IV42	OTTHUMG00000019191	ENST00000368887.3:c.907T>C	10.37:g.124746879T>C	ENSP00000357882:p.Phe303Leu	True	False		Somatic	0				PSTK_ENST00000405485.1_3'UTR|PSTK_ENST00000497219.1_3'UTR	p.F303L	NM_153336.2	NP_699167.2	WXS	Illumina HiSeq	Phase_I	Q8IV42	PSTK_HUMAN		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0725)	6	1347	+		all_neural(114;0.169)|Glioma(114;0.222)	303					Q6ZSS9	Missense_Mutation	SNP	ENST00000368887.3	37	c.907T>C	CCDS7633.1	.	.	.	.	.	.	.	.	.	.	T	5.062	0.197044	0.09599	.	.	ENSG00000179988	ENST00000368887	T	0.49432	0.78	2.11	2.11	0.27256	.	0.974060	0.08343	N	0.960511	T	0.11879	0.0289	N	0.00179	-1.91	0.20638	N	0.999873	B	0.06786	0.001	B	0.10450	0.005	T	0.32375	-0.9909	10	0.07030	T	0.85	.	6.2226	0.20689	0.0:0.0:0.0:1.0	.	303	Q8IV42	PSTK_HUMAN	L	303	ENSP00000357882:F303L	ENSP00000357882:F303L	F	+	1	0	PSTK	124736869	0.000000	0.05858	0.087000	0.20705	0.903000	0.53119	0.284000	0.18864	1.227000	0.43598	0.533000	0.62120	TTT		0.423	PSTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050811.1	0	NM_153336		10:124746879
PROL1	58503	broad.mit.edu	37	4	71275677	71275677	+	Missense_Mutation	SNP	G	G	A	rs369329579		TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr4:71275677G>A	ENST00000399575.2	+	3	806	c.632G>A	c.(631-633)cGt>cAt	p.R211H		NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	211	Thr-rich.				negative regulation of endopeptidase activity (GO:0010951)|regulation of sensory perception of pain (GO:0051930)|retina homeostasis (GO:0001895)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	endopeptidase inhibitor activity (GO:0004866)|peptidase inhibitor activity (GO:0030414)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				CTCGCCAACCGTCCTCACACA	0.448													C|||	1	0.000199681	0.0	0.0	5008	,	,		18744	0.0		0.0	False		,,,				2504	0.001					ENST00000399575.2		NA																	0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15						c.(631-633)cGt>cAt		proline rich, lacrimal 1		C	HIS/ARG	0,4052		0,0,2026	115.0	119.0	118.0		632	1.3	0.0	4		118	2,8366		0,2,4182	no	missense	PROL1	NM_021225.4	29	0,2,6208	AA,AG,GG		0.0239,0.0,0.0161	benign	211/249	71275677	2,12418	2026	4184	6210	SO:0001583	missense	58503				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity	g.chr4:71275677G>A	S83198	CCDS43235.1	4q13.3	2011-10-28	2005-02-07		ENSG00000171199	ENSG00000171199			17279	protein-coding gene	gene with protein product		608936	"""proline rich 1"""			8670737	Standard	NM_021225		Approved	BPLP, PRL1, opiorphin	uc003hfi.3	Q99935	OTTHUMG00000160845	ENST00000399575.2:c.632G>A	4.37:g.71275677G>A	ENSP00000382485:p.Arg211His	False	False		Somatic	0					p.R211H	NM_021225.4	NP_067048.4	WXS	Illumina HiSeq	Phase_I	Q99935	PROL1_HUMAN			3	806	+		all_hematologic(202;0.196)	211			Thr-rich.		A8MZ07|P85047	Missense_Mutation	SNP	ENST00000399575.2	37	c.632G>A	CCDS43235.1	.	.	.	.	.	.	.	.	.	.	C	13.85	2.361243	0.41801	0.0	2.39E-4	ENSG00000171199	ENST00000399575	T	0.42131	0.98	3.08	1.33	0.21861	.	.	.	.	.	T	0.18718	0.0449	N	0.08118	0	0.09310	N	1	B	0.24368	0.102	B	0.08055	0.003	T	0.15206	-1.0445	9	0.44086	T	0.13	.	3.3539	0.07162	0.0:0.5226:0.2206:0.2569	.	211	Q99935	PROL1_HUMAN	H	211	ENSP00000382485:R211H	ENSP00000382485:R211H	R	+	2	0	PROL1	71310266	0.000000	0.05858	0.001000	0.08648	0.036000	0.12997	-0.417000	0.07088	0.045000	0.15804	-0.187000	0.12897	CGT		0.448	PROL1-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000362639.1	0	NM_021225		4:71275677
TPO	7173	broad.mit.edu	37	2	1426896	1426896	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr2:1426896G>T	ENST00000345913.4	+	3	265	c.174G>T	c.(172-174)atG>atT	p.M58I	TPO_ENST00000539820.1_Missense_Mutation_p.M58I|TPO_ENST00000382269.3_Missense_Mutation_p.M58I|TPO_ENST00000382201.3_Missense_Mutation_p.M58I|TPO_ENST00000382198.1_Missense_Mutation_p.M58I|TPO_ENST00000337415.3_Missense_Mutation_p.M58I|TPO_ENST00000346956.3_Missense_Mutation_p.M58I|TPO_ENST00000349624.3_Missense_Mutation_p.M58I|TPO_ENST00000497517.2_Intron|TPO_ENST00000329066.4_Missense_Mutation_p.M58I	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	58					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	ACGCCACGATGCAGAGGTGAG	0.597																																						ENST00000345913.4		NA																	0				breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(172-174)atG>atT		thyroid peroxidase	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)						69.0	60.0	63.0					2																	1426896		2203	4300	6503	SO:0001583	missense	7173				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	g.chr2:1426896G>T		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.174G>T	2.37:g.1426896G>T	ENSP00000318820:p.Met58Ile	False	False		Somatic	0				TPO_ENST00000539820.1_Missense_Mutation_p.M58I|TPO_ENST00000349624.3_Missense_Mutation_p.M58I|TPO_ENST00000329066.4_Missense_Mutation_p.M58I|TPO_ENST00000382269.3_Missense_Mutation_p.M58I|TPO_ENST00000337415.3_Missense_Mutation_p.M58I|TPO_ENST00000382198.1_Missense_Mutation_p.M58I|TPO_ENST00000346956.3_Missense_Mutation_p.M58I|TPO_ENST00000497517.2_Intron|TPO_ENST00000382201.3_Missense_Mutation_p.M58I	p.M58I	NM_000547.5	NP_000538.3	WXS	Illumina HiSeq	Phase_I	P07202	PERT_HUMAN		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	3	265	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	58					P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	c.174G>T	CCDS1643.1	.	.	.	.	.	.	.	.	.	.	G	10.54	1.377425	0.24944	.	.	ENSG00000115705	ENST00000382269;ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000539820;ENST00000329066;ENST00000382201;ENST00000423320;ENST00000382198	T;T;T;T;T;T;T;T;T;T	0.56776	0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44	3.72	3.72	0.42706	.	0.282519	0.34652	N	0.003786	T	0.40909	0.1136	L	0.50919	1.6	0.09310	N	1	B;B;B;B;B	0.33807	0.008;0.426;0.264;0.008;0.006	B;B;B;B;B	0.25405	0.007;0.06;0.033;0.007;0.004	T	0.30563	-0.9974	10	0.29301	T	0.29	-29.3298	11.2868	0.49226	0.0:0.0:1.0:0.0	.	58;58;58;58;58	P07202-4;P07202-5;E9PFM6;P07202-2;P07202	.;.;.;.;PERT_HUMAN	I	58	ENSP00000371704:M58I;ENSP00000337263:M58I;ENSP00000318820:M58I;ENSP00000263886:M58I;ENSP00000332044:M58I;ENSP00000444840:M58I;ENSP00000329869:M58I;ENSP00000371636:M58I;ENSP00000390994:M58I;ENSP00000371633:M58I	ENSP00000329869:M58I	M	+	3	0	TPO	1405903	0.251000	0.23961	0.039000	0.18376	0.038000	0.13279	1.497000	0.35649	2.347000	0.79759	0.467000	0.42956	ATG		0.597	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	0	NM_000547		2:1426896
NPHP1	4867	broad.mit.edu	37	2	110922260	110922260	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr2:110922260C>T	ENST00000393272.3	-	8	873	c.776G>A	c.(775-777)gGc>gAc	p.G259D	NPHP1_ENST00000316534.4_Missense_Mutation_p.G259D|NPHP1_ENST00000355301.4_Intron|NPHP1_ENST00000417665.1_Intron|NPHP1_ENST00000445609.2_Intron	NM_000272.3|NM_207181.2	NP_000263.2|NP_997064.2	O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	259					actin cytoskeleton organization (GO:0030036)|cell projection organization (GO:0030030)|cellular protein localization (GO:0034613)|excretion (GO:0007588)|photoreceptor cell outer segment organization (GO:0035845)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|spermatid differentiation (GO:0048515)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						ACAGAAGATGCCCGCCTCTGA	0.458																																						ENST00000316534.4		NA																	0				autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						c.(775-777)gGc>gAc		nephronophthisis 1 (juvenile)							124.0	133.0	130.0					2																	110922260		2203	4300	6503	SO:0001583	missense	4867				actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity	g.chr2:110922260C>T	AF023674	CCDS2086.1, CCDS46384.1, CCDS46385.1, CCDS46386.1	2q13	2014-01-28			ENSG00000144061	ENSG00000144061			7905	protein-coding gene	gene with protein product	"""nephrocystin-1"""	607100		NPH1			Standard	NM_000272		Approved	JBTS4, SLSN1	uc002tfm.4	O15259	OTTHUMG00000131195	ENST00000393272.3:c.776G>A	2.37:g.110922260C>T	ENSP00000376953:p.Gly259Asp	True	False		Somatic	0				NPHP1_ENST00000393272.3_Missense_Mutation_p.G259D|NPHP1_ENST00000445609.2_Intron|NPHP1_ENST00000355301.4_Intron|NPHP1_ENST00000417665.1_Intron	p.G259D			WXS	Illumina HiSeq	Phase_I	O15259	NPHP1_HUMAN			8	849	-			259					O14837	Missense_Mutation	SNP	ENST00000393272.3	37	c.776G>A	CCDS46385.1	.	.	.	.	.	.	.	.	.	.	C	9.500	1.102886	0.20632	.	.	ENSG00000144061	ENST00000316534;ENST00000393272	T;T	0.64438	-0.1;-0.06	4.59	3.72	0.42706	.	0.678739	0.14107	N	0.341008	T	0.49321	0.1550	N	0.22421	0.69	0.19300	N	0.99997	P;P	0.44946	0.761;0.846	B;B	0.43194	0.234;0.411	T	0.39333	-0.9619	10	0.66056	D	0.02	-3.7449	8.7413	0.34558	0.0:0.8968:0.0:0.1032	.	259;259	O15259;O15259-4	NPHP1_HUMAN;.	D	259	ENSP00000313169:G259D;ENSP00000376953:G259D	ENSP00000313169:G259D	G	-	2	0	NPHP1	110279549	0.009000	0.17119	0.004000	0.12327	0.017000	0.09413	1.848000	0.39309	1.180000	0.42898	-0.219000	0.12488	GGC		0.458	NPHP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253919.3	0	NM_000272		2:110922260
WNT2	7472	broad.mit.edu	37	7	116960785	116960785	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr7:116960785C>A	ENST00000265441.3	-	2	445	c.146G>T	c.(145-147)aGc>aTc	p.S49I	AC002465.2_ENST00000436097.1_RNA	NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	49					atrial cardiac muscle tissue morphogenesis (GO:0055009)|canonical Wnt signaling pathway (GO:0060070)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|iris morphogenesis (GO:0061072)|labyrinthine layer blood vessel development (GO:0060716)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|lung induction (GO:0060492)|mammary gland epithelium development (GO:0061180)|neuron differentiation (GO:0030182)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		CCGCTGGCTGCTCACCAGGCC	0.592																																						ENST00000265441.3		NA																	0				breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31						c.(145-147)aGc>aTc		wingless-type MMTV integration site family member 2							54.0	45.0	48.0					7																	116960785		2203	4300	6503	SO:0001583	missense	7472				atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity	g.chr7:116960785C>A	X07876	CCDS5771.1	7q31	2013-02-28			ENSG00000105989	ENSG00000105989		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12780	protein-coding gene	gene with protein product	"""secreted growth factor"""	147870		INT1L1		2971536	Standard	NM_003391		Approved	IRP	uc003viz.3	P09544	OTTHUMG00000023428	ENST00000265441.3:c.146G>T	7.37:g.116960785C>A	ENSP00000265441:p.Ser49Ile	True	False		Somatic	0				AC002465.2_ENST00000436097.1_RNA	p.S49I	NM_003391.2	NP_003382.1	WXS	Illumina HiSeq	Phase_I	P09544	WNT2_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)	2	445	-	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		49					A4D0V1|Q75N05|Q9UDP9	Missense_Mutation	SNP	ENST00000265441.3	37	c.146G>T	CCDS5771.1	.	.	.	.	.	.	.	.	.	.	C	19.46	3.831442	0.71258	.	.	ENSG00000105989	ENST00000265441;ENST00000491214	T;T	0.76578	-1.03;-1.03	5.42	5.42	0.78866	.	0.040486	0.85682	D	0.000000	T	0.77691	0.4168	M	0.72894	2.215	0.44123	D	0.996904	P	0.44776	0.843	B	0.41917	0.37	T	0.79743	-0.1675	10	0.49607	T	0.09	.	14.2281	0.65873	0.0:0.851:0.149:0.0	.	49	P09544	WNT2_HUMAN	I	49	ENSP00000265441:S49I;ENSP00000419466:S49I	ENSP00000265441:S49I	S	-	2	0	WNT2	116748021	0.998000	0.40836	1.000000	0.80357	0.989000	0.77384	0.573000	0.23699	2.691000	0.91804	0.655000	0.94253	AGC		0.592	WNT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059749.3	0	NM_003391		7:116960785
SLC25A33	84275	broad.mit.edu	37	1	9642431	9642431	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr1:9642431C>T	ENST00000302692.6	+	7	1048	c.838C>T	c.(838-840)Cgg>Tgg	p.R280W		NM_032315.2	NP_115691.1	Q9BSK2	S2533_HUMAN	solute carrier family 25 (pyrimidine nucleotide carrier), member 33	280					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|kidney(1)|lung(4)|prostate(1)|skin(1)	9	all_lung(157;0.246)	all_epithelial(116;1.16e-18)|all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Breast(348;0.00191)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.44e-05)|Kidney(185;0.000262)|KIRC - Kidney renal clear cell carcinoma(229;0.000957)|BRCA - Breast invasive adenocarcinoma(304;0.0019)|STAD - Stomach adenocarcinoma(132;0.00355)|READ - Rectum adenocarcinoma(331;0.0419)		CCTGGTGTTCCGGGAAGAAGG	0.488																																						ENST00000302692.6		NA																	0				endometrium(2)|kidney(1)|lung(4)|prostate(1)|skin(1)	9						c.(838-840)Cgg>Tgg		solute carrier family 25 (pyrimidine nucleotide carrier), member 33							80.0	77.0	78.0					1																	9642431		2203	4300	6503	SO:0001583	missense	84275				transport	integral to membrane|mitochondrial inner membrane		g.chr1:9642431C>T	AF495714	CCDS103.1	1p36.22	2013-05-22	2012-03-29		ENSG00000171612	ENSG00000171612		"""Solute carriers"""	29681	protein-coding gene	gene with protein product		610816	"""solute carrier family 25, member 33"""			14715278, 16949250	Standard	XM_005263503		Approved	MGC4399, BMSC-MCP, PNC1	uc001apw.3	Q9BSK2	OTTHUMG00000001322	ENST00000302692.6:c.838C>T	1.37:g.9642431C>T	ENSP00000306328:p.Arg280Trp	True	False		Somatic	0					p.R280W	NM_032315.2	NP_115691.1	WXS	Illumina HiSeq	Phase_I	Q9BSK2	S2533_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.44e-05)|Kidney(185;0.000262)|KIRC - Kidney renal clear cell carcinoma(229;0.000957)|BRCA - Breast invasive adenocarcinoma(304;0.0019)|STAD - Stomach adenocarcinoma(132;0.00355)|READ - Rectum adenocarcinoma(331;0.0419)	7	1048	+	all_lung(157;0.246)	all_epithelial(116;1.16e-18)|all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Breast(348;0.00191)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	280						Missense_Mutation	SNP	ENST00000302692.6	37	c.838C>T	CCDS103.1	.	.	.	.	.	.	.	.	.	.	C	17.12	3.307851	0.60305	.	.	ENSG00000171612	ENST00000302692	T	0.80738	-1.41	5.98	5.98	0.97165	Mitochondrial carrier domain (2);	0.329961	0.32852	N	0.005573	D	0.86896	0.6043	H	0.95950	3.745	0.47949	D	0.999552	B	0.33413	0.411	B	0.33254	0.16	D	0.88291	0.2943	10	0.87932	D	0	-12.7821	14.3012	0.66355	0.1483:0.8517:0.0:0.0	.	280	Q9BSK2	S2533_HUMAN	W	280	ENSP00000306328:R280W	ENSP00000306328:R280W	R	+	1	2	SLC25A33	9565018	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.812000	0.55628	2.835000	0.97688	0.650000	0.86243	CGG		0.488	SLC25A33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003851.2	0	NM_032315		1:9642431
ZNF845	91664	broad.mit.edu	37	19	53855452	53855452	+	Silent	SNP	A	A	G			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr19:53855452A>G	ENST00000595091.1	+	5	1743	c.1524A>G	c.(1522-1524)tcA>tcG	p.S508S	ZNF845_ENST00000458035.1_Silent_p.S508S			Q96IR2	ZN845_HUMAN	zinc finger protein 845	508					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						GTTTCAAATCAAACCTTGAAA	0.388																																						ENST00000458035.1		NA																	0				endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(1522-1524)tcA>tcG		zinc finger protein 845							22.0	21.0	21.0					19																	53855452		692	1590	2282	SO:0001819	synonymous_variant	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53855452A>G	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.1524A>G	19.37:g.53855452A>G		True	False		Somatic	0				ZNF845_ENST00000595091.1_Silent_p.S508S	p.S508S	NM_138374.1	NP_612383.1	WXS	Illumina HiSeq	Phase_I	Q96IR2	ZN845_HUMAN			4	1641	+			508						Silent	SNP	ENST00000595091.1	37	c.1524A>G	CCDS46170.1																																																																																				0.388	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	0	XM_039908		19:53855452
RASGRF1	5923	broad.mit.edu	37	15	79350772	79350772	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr15:79350772G>T	ENST00000419573.3	-	3	709	c.435C>A	c.(433-435)caC>caA	p.H145Q	RASGRF1_ENST00000558480.2_Missense_Mutation_p.H145Q|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	145					activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TCTGCAGCAGGTGCAGGTATT	0.562																																						ENST00000419573.3		NA																	0				breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(433-435)caC>caA		Ras protein-specific guanine nucleotide-releasing factor 1							133.0	108.0	116.0					15																	79350772		2196	4293	6489	SO:0001583	missense	5923				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	g.chr15:79350772G>T	M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.435C>A	15.37:g.79350772G>T	ENSP00000405963:p.His145Gln	True	False		Somatic	0				RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Missense_Mutation_p.H145Q	p.H145Q	NM_002891.4	NP_002882.3	WXS	Illumina HiSeq	Phase_I	Q13972	RGRF1_HUMAN			3	709	-			145					F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	SNP	ENST00000419573.3	37	c.435C>A	CCDS10309.1	.	.	.	.	.	.	.	.	.	.	G	18.23	3.578942	0.65878	.	.	ENSG00000058335	ENST00000419573;ENST00000394741	T	0.40756	1.02	4.59	3.65	0.41850	.	0.060814	0.64402	D	0.000003	T	0.56514	0.1990	M	0.65975	2.015	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.73708	0.958;0.958;0.958;0.981	T	0.58907	-0.7553	10	0.87932	D	0	.	7.329	0.26571	0.1963:0.0:0.8037:0.0	.	145;145;145;145	A8K270;Q8IUU5;Q13972;F8VPA5	.;.;RGRF1_HUMAN;.	Q	145	ENSP00000405963:H145Q	ENSP00000378224:H145Q	H	-	3	2	RASGRF1	77137827	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	3.502000	0.53332	2.366000	0.80165	0.542000	0.68232	CAC		0.562	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	0	NM_002891		15:79350772
OMD	4958	broad.mit.edu	37	9	95179346	95179346	+	Missense_Mutation	SNP	T	T	A			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr9:95179346T>A	ENST00000375550.4	-	2	770	c.495A>T	c.(493-495)gaA>gaT	p.E165D	CENPP_ENST00000375587.3_Intron	NM_005014.2	NP_005005.1	Q99983	OMD_HUMAN	osteomodulin	165					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|skin(2)	16						GAAGGAGTCTTTCCAGAGATT	0.353			T	USP6	aneurysmal bone cysts																																	ENST00000375550.4		NA		Dom	yes		9	9q22.31	4958	T	osteomodulin			M	USP6		aneurysmal bone cysts		0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|skin(2)	16						c.(493-495)gaA>gaT		osteomodulin							95.0	96.0	96.0					9																	95179346		2203	4300	6503	SO:0001583	missense	4958				cell adhesion	proteinaceous extracellular matrix		g.chr9:95179346T>A	AB000114	CCDS6696.1	9q22.31	2008-02-05			ENSG00000127083	ENSG00000127083		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	8134	protein-coding gene	gene with protein product	"""osteoadherin proteoglycan"""						Standard	NM_005014		Approved	osteoadherin, SLRR2C	uc004asd.4	Q99983	OTTHUMG00000020225	ENST00000375550.4:c.495A>T	9.37:g.95179346T>A	ENSP00000364700:p.Glu165Asp	True	False		Somatic	0				CENPP_ENST00000375587.3_Intron	p.E165D	NM_005014.2	NP_005005.1	WXS	Illumina HiSeq	Phase_I	Q99983	OMD_HUMAN			2	770	-			165					Q5TBF4	Missense_Mutation	SNP	ENST00000375550.4	37	c.495A>T	CCDS6696.1	.	.	.	.	.	.	.	.	.	.	t	16.29	3.081856	0.55861	.	.	ENSG00000127083	ENST00000375550	T	0.05258	3.47	5.41	4.27	0.50696	.	0.071747	0.53938	D	0.000044	T	0.06462	0.0166	L	0.60067	1.865	0.31296	N	0.688889	P	0.42692	0.787	B	0.33121	0.158	T	0.13255	-1.0516	10	0.56958	D	0.05	-20.6279	7.6328	0.28249	0.0:0.2438:0.0:0.7562	.	165	Q99983	OMD_HUMAN	D	165	ENSP00000364700:E165D	ENSP00000364700:E165D	E	-	3	2	OMD	94219167	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.745000	0.26259	1.001000	0.39076	0.477000	0.44152	GAA		0.353	OMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053090.1	0	NM_005014		9:95179346
ADAMTS16	170690	broad.mit.edu	37	5	5239387	5239387	+	Splice_Site	SNP	C	C	T			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr5:5239387C>T	ENST00000274181.7	+	15	2416	c.2278C>T	c.(2278-2280)Cag>Tag	p.Q760*		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	760	Spacer.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CCACACCAACCGTGAGTACTT	0.512																																						ENST00000274181.7		NA																	0				breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						c.(2278-2280)Cag>Tag		ADAM metallopeptidase with thrombospondin type 1 motif, 16							136.0	135.0	135.0					5																	5239387		2044	4196	6240	SO:0001630	splice_region_variant	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5239387C>T	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.2278+1C>T	5.37:g.5239387C>T		False	False		Somatic	0					p.Q760*	NM_139056.2	NP_620687.2	WXS	Illumina HiSeq	Phase_I	Q8TE57	ATS16_HUMAN			15	2416	+			760			Spacer.		C6G490|Q8IVE2	Splice_Site	SNP	ENST00000274181.7	37	c.2278C>T	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	C	40	8.165790	0.98686	.	.	ENSG00000145536	ENST00000274181;ENST00000536857	.	.	.	5.85	4.96	0.65561	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	15.5469	0.76108	0.0:0.8611:0.1389:0.0	.	.	.	.	X	760	.	ENSP00000274181:Q760X	Q	+	1	0	ADAMTS16	5292387	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	2.676000	0.46883	1.410000	0.46936	0.655000	0.94253	CAG		0.512	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	0	NM_139056	Nonsense_Mutation	5:5239387
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	False	False	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)	Somatic	0				KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D	p.G12D	NM_004985.3	NP_004976.2	WXS	Illumina HiSeq	Phase_I	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	0	NM_033360		12:25398284
CEACAM4	1089	broad.mit.edu	37	19	42132119	42132119	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr19:42132119C>T	ENST00000221954.2	-	2	390	c.280G>A	c.(280-282)Gca>Aca	p.A94T	CEACAM4_ENST00000600925.1_Missense_Mutation_p.A94T	NM_001817.2	NP_001808.2	O75871	CEAM4_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 4	94	Ig-like V-type.					integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)		p.A94T(1)		NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						CCACTGTATGCGGCCCCTGGG	0.488																																						ENST00000221954.2		NA																	1	Substitution - Missense(1)	p.A94T(1)	lung(1)	NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						c.(280-282)Gca>Aca		carcinoembryonic antigen-related cell adhesion molecule 4							166.0	157.0	160.0					19																	42132119		2203	4300	6503	SO:0001583	missense	1089					integral to plasma membrane|membrane fraction		g.chr19:42132119C>T	D90276	CCDS33033.1	19q13.2	2013-01-11			ENSG00000105352	ENSG00000105352		"""Immunoglobulin superfamily / V-set domain containing"""	1816	protein-coding gene	gene with protein product				CGM7		2050678	Standard	XM_005258434		Approved		uc002orh.1	O75871	OTTHUMG00000151065	ENST00000221954.2:c.280G>A	19.37:g.42132119C>T	ENSP00000221954:p.Ala94Thr	False	False		Somatic	0				CEACAM4_ENST00000600925.1_Missense_Mutation_p.A94T	p.A94T	NM_001817.2	NP_001808.2	WXS	Illumina HiSeq	Phase_I	O75871	CEAM4_HUMAN			2	390	-			94			Ig-like V-type.		Q03715|Q7LDZ7	Missense_Mutation	SNP	ENST00000221954.2	37	c.280G>A	CCDS33033.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.639939	0.47153	.	.	ENSG00000105352	ENST00000221954	T	0.66280	-0.2	1.76	1.76	0.24704	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.76278	0.3965	M	0.84219	2.685	0.09310	N	1	D;D	0.89917	0.997;1.0	D;D	0.73380	0.921;0.98	T	0.61207	-0.7109	9	0.66056	D	0.02	.	6.9535	0.24558	0.0:1.0:0.0:0.0	.	94;94	E7EMX3;O75871	.;CEAM4_HUMAN	T	94	ENSP00000221954:A94T	ENSP00000221954:A94T	A	-	1	0	CEACAM4	46823959	0.000000	0.05858	0.009000	0.14445	0.015000	0.08874	0.618000	0.24373	1.281000	0.44480	0.205000	0.17691	GCA		0.488	CEACAM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321148.1	0	NM_001817		19:42132119
RGPD3	653489	broad.mit.edu	37	2	107049681	107049681	+	Missense_Mutation	SNP	T	T	C	rs369310197		TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr2:107049681T>C	ENST00000409886.3	-	16	2353	c.2266A>G	c.(2266-2268)Aac>Gac	p.N756D	RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	756					protein targeting to Golgi (GO:0000042)			p.N756D(6)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCACTATAGTTTTCGAGTTCC	0.373																																						ENST00000409886.3		NA																	6	Substitution - Missense(6)	p.N756D(6)	endometrium(6)	breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						c.(2266-2268)Aac>Gac		RANBP2-like and GRIP domain containing 3							164.0	133.0	142.0					2																	107049681		692	1590	2282	SO:0001583	missense	653489				intracellular transport		binding	g.chr2:107049681T>C		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.2266A>G	2.37:g.107049681T>C	ENSP00000386588:p.Asn756Asp	True	False		Somatic	0				RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	p.N756D	NM_001144013.1	NP_001137485.1	WXS	Illumina HiSeq	Phase_I	A6NKT7	RGPD3_HUMAN			16	2353	-			756					B8ZZM4	Missense_Mutation	SNP	ENST00000409886.3	37	c.2266A>G	CCDS46379.1	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.481585	0.00163	.	.	ENSG00000153165	ENST00000409886;ENST00000452099;ENST00000304514	T;T	0.23754	1.89;1.89	2.34	2.34	0.29019	.	.	.	.	.	T	0.07638	0.0192	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37979	-0.9682	9	0.02654	T	1	-2.2547	7.1228	0.25454	0.0:0.8499:0.0:0.1501	.	756	A6NKT7	RGPD3_HUMAN	D	756;514;756	ENSP00000386588:N756D;ENSP00000303659:N756D	ENSP00000303659:N756D	N	-	1	0	RGPD3	106416113	0.974000	0.33945	0.242000	0.24170	0.003000	0.03518	4.107000	0.57811	0.325000	0.23359	-1.206000	0.01644	AAC		0.373	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	0	XM_929931		2:107049681
NUP62	23636	broad.mit.edu	37	19	50412073	50412073	+	Missense_Mutation	SNP	G	G	A	rs377108835		TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr19:50412073G>A	ENST00000596217.1	-	2	2879	c.992C>T	c.(991-993)gCg>gTg	p.A331V	NUP62_ENST00000597723.1_Intron|NUP62_ENST00000600583.1_5'Flank|NUP62_ENST00000413454.1_Missense_Mutation_p.A331V|IL4I1_ENST00000595948.1_Intron|IL4I1_ENST00000341114.3_Intron|NUP62_ENST00000422090.2_Missense_Mutation_p.A331V|NUP62_ENST00000597029.1_Missense_Mutation_p.A331V|NUP62_ENST00000352066.3_Missense_Mutation_p.A331V			P37198	NUP62_HUMAN	nucleoporin 62kDa	331	Ala-rich.				carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|hormone-mediated signaling pathway (GO:0009755)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of programmed cell death (GO:0043069)|negative regulation of Ras protein signal transduction (GO:0046580)|nucleocytoplasmic transport (GO:0006913)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of Ras protein signal transduction (GO:0046578)|regulation of signal transduction (GO:0009966)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleocytoplasmic shuttling complex (GO:0031074)|pore complex (GO:0046930)|ribonucleoprotein complex (GO:0030529)	chromatin binding (GO:0003682)|receptor signaling complex scaffold activity (GO:0030159)|SH2 domain binding (GO:0042169)|structural constituent of nuclear pore (GO:0017056)|thyroid hormone receptor binding (GO:0046966)|ubiquitin binding (GO:0043130)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		CTCCAGCTGCGCGTAGGTCAT	0.682																																						ENST00000596217.1		NA																	0				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19						c.(991-993)gCg>gTg		nucleoporin 62kDa		G	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,	0,4400		0,0,2200	46.0	52.0	50.0		992,992,992,992,992,	4.1	0.5	19		50	1,8595		0,1,4297	no	missense,missense,missense,missense,missense,intron	NUP62,IL4I1	NM_001193357.1,NM_012346.4,NM_016553.4,NM_153718.3,NM_153719.3,NM_172374.1	64,64,64,64,64,	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign,benign,benign,	331/523,331/523,331/523,331/523,331/523,	50412073	1,12995	2200	4298	6498	SO:0001583	missense	23636				carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding	g.chr19:50412073G>A	X58521	CCDS12788.1	19q13.33	2013-09-20	2002-08-29		ENSG00000213024	ENSG00000213024			8066	protein-coding gene	gene with protein product	"""nuclear pore glycoprotein p62"""	605815	"""nucleoporin 62kD"""			1915414	Standard	NM_016553		Approved	p62, DKFZp547L134, IBSN, SNDI, MGC841, FLJ20822, FLJ43869	uc002pqx.3	P37198	OTTHUMG00000183077	ENST00000596217.1:c.992C>T	19.37:g.50412073G>A	ENSP00000471191:p.Ala331Val	False	False		Somatic	0				NUP62_ENST00000352066.3_Missense_Mutation_p.A331V|NUP62_ENST00000597029.1_Missense_Mutation_p.A331V|NUP62_ENST00000597723.1_Intron|NUP62_ENST00000422090.2_Missense_Mutation_p.A331V|IL4I1_ENST00000341114.3_Intron|IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000413454.1_Missense_Mutation_p.A331V	p.A331V			WXS	Illumina HiSeq	Phase_I	P37198	NUP62_HUMAN		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)	2	2879	-		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)	331			Ala-rich.		B3KWU5|Q503A4|Q6GTM2|Q96C43|Q9NSL1	Missense_Mutation	SNP	ENST00000596217.1	37	c.992C>T	CCDS12788.1	.	.	.	.	.	.	.	.	.	.	G	13.89	2.373391	0.42105	0.0	1.16E-4	ENSG00000213024	ENST00000352066;ENST00000422090;ENST00000413454	T;T;T	0.76709	-1.04;-1.04;-1.04	5.2	4.14	0.48551	Nucleoporin, NSP1-like, C-terminal (2);	0.075566	0.51477	U	0.000094	T	0.74596	0.3737	L	0.55481	1.735	0.49213	D	0.99976	P	0.42584	0.784	B	0.42495	0.389	T	0.74368	-0.3688	9	.	.	.	-9.4439	13.7291	0.62776	0.0:0.1556:0.8444:0.0	.	331	P37198	NUP62_HUMAN	V	331	ENSP00000305503:A331V;ENSP00000407331:A331V;ENSP00000387991:A331V	.	A	-	2	0	NUP62	55103885	1.000000	0.71417	0.491000	0.27477	0.408000	0.30992	5.070000	0.64376	1.530000	0.49136	0.655000	0.94253	GCG		0.682	NUP62-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464991.1	0	NM_153719		19:50412073
ZNF385B	151126	broad.mit.edu	37	2	180308122	180308122	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr2:180308122G>A	ENST00000410066.1	-	10	1874	c.1271C>T	c.(1270-1272)gCg>gTg	p.A424V	ZNF385B_ENST00000409692.1_Missense_Mutation_p.A322V|ZNF385B_ENST00000409343.1_Missense_Mutation_p.A348V|ZNF385B_ENST00000336917.5_Missense_Mutation_p.A322V|ZNF385B_ENST00000466398.1_5'UTR	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	424	Interaction with p53/TP53.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|p53 binding (GO:0002039)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			CACGGCTGCCGCCGCTGCGAG	0.607																																					Colon(155;204 2491 32774 51842)	ENST00000410066.1		NA																	0				breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26						c.(1270-1272)gCg>gTg		zinc finger protein 385B							23.0	32.0	29.0					2																	180308122		2202	4300	6502	SO:0001583	missense	151126					nucleus	nucleic acid binding|zinc ion binding	g.chr2:180308122G>A	AK057999	CCDS33339.1, CCDS46463.1, CCDS46464.1	2q31.3-q32.1	2012-10-05	2007-12-06	2007-12-06	ENSG00000144331	ENSG00000144331			26332	protein-coding gene	gene with protein product		612344	"""zinc finger protein 533"""	ZNF533		12477932	Standard	NM_152520		Approved	FLJ25270	uc002unn.4	Q569K4	OTTHUMG00000154559	ENST00000410066.1:c.1271C>T	2.37:g.180308122G>A	ENSP00000386845:p.Ala424Val	False	False		Somatic	0				ZNF385B_ENST00000409343.1_Missense_Mutation_p.A348V|ZNF385B_ENST00000336917.5_Missense_Mutation_p.A322V|ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000409692.1_Missense_Mutation_p.A322V	p.A424V	NM_152520.4	NP_689733.3	WXS	Illumina HiSeq	Phase_I	Q569K4	Z385B_HUMAN	Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)		10	1874	-			424					Q49A04|Q6ZMZ7|Q8IY01|Q8N8H2|Q96DK4	Missense_Mutation	SNP	ENST00000410066.1	37	c.1271C>T	CCDS33339.1	.	.	.	.	.	.	.	.	.	.	G	16.00	2.998461	0.54147	.	.	ENSG00000144331	ENST00000410066;ENST00000336917;ENST00000409343;ENST00000409692	T;T;T;T	0.35973	1.28;1.3;1.28;1.3	5.49	5.49	0.81192	.	0.257134	0.40728	N	0.001021	T	0.47248	0.1435	L	0.39147	1.195	0.58432	D	0.999999	D;D	0.65815	0.995;0.976	P;P	0.54815	0.761;0.488	T	0.43442	-0.9391	10	0.62326	D	0.03	-20.3691	19.3766	0.94512	0.0:0.0:1.0:0.0	.	424;348	Q569K4;Q569K4-2	Z385B_HUMAN;.	V	424;322;348;322	ENSP00000386845:A424V;ENSP00000338225:A322V;ENSP00000386379:A348V;ENSP00000386507:A322V	ENSP00000338225:A322V	A	-	2	0	ZNF385B	180016367	1.000000	0.71417	0.160000	0.22671	0.013000	0.08279	7.203000	0.77864	2.565000	0.86533	0.561000	0.74099	GCG		0.607	ZNF385B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335972.1	0	NM_152520		2:180308122
UBL7	84993	broad.mit.edu	37	15	74743165	74743165	+	Missense_Mutation	SNP	C	C	A	rs199841006		TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr15:74743165C>A	ENST00000567435.1	-	6	971	c.508G>T	c.(508-510)Gct>Tct	p.A170S	UBL7_ENST00000564488.1_Missense_Mutation_p.A170S|UBL7_ENST00000395081.2_Missense_Mutation_p.A170S|UBL7_ENST00000361351.4_Missense_Mutation_p.A170S|UBL7_ENST00000565335.1_Missense_Mutation_p.A170S			Q96S82	UBL7_HUMAN	ubiquitin-like 7	170										endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						TTGGGATCAGCGAAGACAGAG	0.502																																						ENST00000567435.1		NA																	0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						c.(508-510)Gct>Tct		ubiquitin-like 7 (bone marrow stromal cell-derived)							130.0	110.0	117.0					15																	74743165		2197	4296	6493	SO:0001583	missense	84993						protein binding	g.chr15:74743165C>A	BC007913	CCDS10263.1	15q23	2014-03-06	2014-03-06		ENSG00000138629	ENSG00000138629			28221	protein-coding gene	gene with protein product	"""bone marrow stromal cell-derived ubiquitin-like"", "" ubiquitin-like protein SB132"""	609748	"""ubiquitin-like 7 (bone marrow stromal cell-derived)"""			12644319	Standard	NM_201265		Approved	BMSC-UbP, MGC14421	uc002axy.1	Q96S82	OTTHUMG00000139001	ENST00000567435.1:c.508G>T	15.37:g.74743165C>A	ENSP00000457703:p.Ala170Ser	False	False		Somatic	0				UBL7_ENST00000565335.1_Missense_Mutation_p.A170S|UBL7_ENST00000395081.2_Missense_Mutation_p.A170S|UBL7_ENST00000361351.4_Missense_Mutation_p.A170S|UBL7_ENST00000564488.1_Missense_Mutation_p.A170S	p.A170S			WXS	Illumina HiSeq	Phase_I	Q96S82	UBL7_HUMAN			6	971	-			170					D3DW57|Q96I03	Missense_Mutation	SNP	ENST00000567435.1	37	c.508G>T	CCDS10263.1	.	.	.	.	.	.	.	.	.	.	C	15.54	2.864125	0.51482	.	.	ENSG00000138629	ENST00000361351;ENST00000395081	T;T	0.43294	0.95;0.95	5.48	5.48	0.80851	.	0.169066	0.53938	D	0.000049	T	0.25754	0.0627	L	0.29908	0.895	0.42144	D	0.991528	P;P	0.44429	0.835;0.495	B;B	0.34824	0.19;0.145	T	0.07328	-1.0778	10	0.12103	T	0.63	-23.3972	12.6718	0.56872	0.0:0.9246:0.0:0.0754	.	210;170	D3DW56;Q96S82	.;UBL7_HUMAN	S	170	ENSP00000354883:A170S;ENSP00000378518:A170S	ENSP00000354883:A170S	A	-	1	0	UBL7	72530218	0.998000	0.40836	0.958000	0.39756	0.987000	0.75469	3.364000	0.52328	2.568000	0.86640	0.655000	0.94253	GCT		0.502	UBL7-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419627.1	0	NM_032907, NM_201265		15:74743165
OR6K3	391114	broad.mit.edu	37	1	158686997	158686997	+	Silent	SNP	C	C	G			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr1:158686997C>G	ENST00000368146.1	-	1	956	c.957G>C	c.(955-957)ctG>ctC	p.L319L	OR6K3_ENST00000368145.1_Silent_p.L303L			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	319						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					GAAGACAGAACAGTTTTTTAA	0.388																																						ENST00000368146.1		NA																	0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41						c.(955-957)ctG>ctC		olfactory receptor, family 6, subfamily K, member 3							125.0	128.0	127.0					1																	158686997		2203	4300	6503	SO:0001819	synonymous_variant	391114				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158686997C>G	AB065633	CCDS30903.1, CCDS30903.2	1q23.1	2012-08-09			ENSG00000203757	ENSG00000203757		"""GPCR / Class A : Olfactory receptors"""	15030	protein-coding gene	gene with protein product							Standard	NM_001005327		Approved		uc021pbn.1	Q8NGY3	OTTHUMG00000022770	ENST00000368146.1:c.957G>C	1.37:g.158686997C>G		False	False		Somatic	0				OR6K3_ENST00000368145.1_Silent_p.L303L	p.L319L			WXS	Illumina HiSeq	Phase_I	Q8NGY3	OR6K3_HUMAN			1	956	-	all_hematologic(112;0.0378)		319					Q5VUV0|Q6IFR5	Silent	SNP	ENST00000368146.1	37	c.957G>C																																																																																					0.388	OR6K3-201	KNOWN	basic	protein_coding	protein_coding		0			1:158686997
TP53	7157	broad.mit.edu	37	17	7577106	7577106	+	Missense_Mutation	SNP	G	G	A	rs17849781		TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr17:7577106G>A	ENST00000269305.4	-	8	1021	c.832C>T	c.(832-834)Cct>Tct	p.P278S	TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.P278S|TP53_ENST00000445888.2_Missense_Mutation_p.P278S|TP53_ENST00000420246.2_Missense_Mutation_p.P278S|TP53_ENST00000455263.2_Missense_Mutation_p.P278S	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	278	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		P -> A (in sporadic cancers; somatic mutation; dbSNP:rs17849781). {ECO:0000269|PubMed:15489334}.|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:9450901}.|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.P278S(55)|p.P278A(24)|p.P278T(23)|p.0?(8)|p.P278F(3)|p.P278fs*67(3)|p.?(2)|p.P278fs*28(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.C275fs*67(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.C277_P278insXXXXXXX(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TCTCTCCCAGGACAGGCACAA	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		131	Substitution - Missense(105)|Whole gene deletion(8)|Deletion - Frameshift(7)|Deletion - In frame(6)|Insertion - Frameshift(2)|Unknown(2)|Insertion - In frame(1)	p.P278S(55)|p.P278A(24)|p.P278T(23)|p.0?(8)|p.P278F(3)|p.P278fs*67(3)|p.?(2)|p.P278fs*28(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.C275fs*67(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.C277_P278insXXXXXXX(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)	upper_aerodigestive_tract(19)|breast(18)|skin(16)|large_intestine(14)|oesophagus(11)|lung(11)|central_nervous_system(7)|stomach(5)|haematopoietic_and_lymphoid_tissue(5)|ovary(4)|bone(4)|kidney(3)|endometrium(3)|urinary_tract(3)|soft_tissue(2)|pancreas(2)|eye(1)|biliary_tract(1)|liver(1)|prostate(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM011015|CM052927	TP53	M	rs17849781	c.(832-834)Cct>Tct	Other conserved DNA damage response genes	tumor protein p53							72.0	62.0	65.0					17																	7577106		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577106G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.832C>T	17.37:g.7577106G>A	ENSP00000269305:p.Pro278Ser	False	False	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)	Somatic	0				TP53_ENST00000359597.4_Missense_Mutation_p.P278S|TP53_ENST00000455263.2_Missense_Mutation_p.P278S|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.P278S|TP53_ENST00000445888.2_Missense_Mutation_p.P278S	p.P278S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	WXS	Illumina HiSeq	Phase_I	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	964	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	278		P -> A (in sporadic cancers; somatic mutation; dbSNP:rs17849781).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.832C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	31	5.064500	0.93898	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99881	-7.47;-7.47;-7.47;-7.47;-7.47;-7.47	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.050655	0.85682	D	0.000000	D	0.99906	0.9955	M	0.92459	3.31	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;1.0	D;D;D;D	0.97110	0.988;1.0;0.987;0.975	D	0.96190	0.9137	10	0.87932	D	0	-13.7877	16.1198	0.81342	0.0:0.0:1.0:0.0	.	278;278;278;278	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	S	278;278;278;278;278;267;146	ENSP00000352610:P278S;ENSP00000269305:P278S;ENSP00000398846:P278S;ENSP00000391127:P278S;ENSP00000391478:P278S;ENSP00000425104:P146S	ENSP00000269305:P278S	P	-	1	0	TP53	7517831	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.573000	0.98181	2.667000	0.90743	0.462000	0.41574	CCT		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	0	NM_000546		17:7577106
SPATA31D5P	347127	broad.mit.edu	37	9	84534436	84534436	+	RNA	SNP	G	G	A	rs555093571	byFrequency	TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr9:84534436G>A	ENST00000527857.1	+	0	4458					NR_026851.1				SPATA31 subfamily D, member 5, pseudogene																		GGCTATCCCCGCAACTACACA	0.502													-|||	7	0.00139776	0.0	0.0	5008	,	,		22675	0.0		0.0	False		,,,				2504	0.0072					ENST00000527857.1		NA																	0					NA																																														0							g.chr9:84534436G>A			9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000240632	ENSG00000240632			38602	pseudogene	pseudogene			"""family with sequence similarity 75, member D5"", ""family with sequence similarity 75, member D5, pseudogene"""	FAM75D5			Standard	NR_026851		Approved	FLJ43950, FAM75D5P	uc011lst.2		OTTHUMG00000020087		9.37:g.84534436G>A		True	False		Somatic	0						NR_026851.1		WXS	Illumina HiSeq	Phase_I					0	4458	+			NA						RNA	SNP	ENST00000527857.1	37																																																																																						0.502	SPATA31D5P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000052810.2	0	NR_026851		9:84534436
AFF2	2334	broad.mit.edu	37	X	148055040	148055040	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chrX:148055040G>A	ENST00000370460.2	+	16	3786	c.3307G>A	c.(3307-3309)Gcc>Acc	p.A1103T	AFF2_ENST00000286437.5_Missense_Mutation_p.A744T|AFF2_ENST00000370457.5_Missense_Mutation_p.A1068T|AFF2_ENST00000342251.3_Missense_Mutation_p.A1070T	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1103					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)	p.A1103T(1)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					TGCTGATGCCGCCCTCTCCTT	0.468																																						ENST00000370460.2		NA																	1	Substitution - Missense(1)	p.A1103T(1)	kidney(1)	breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109						c.(3307-3309)Gcc>Acc		AF4/FMR2 family, member 2							185.0	148.0	161.0					X																	148055040		2203	4300	6503	SO:0001583	missense	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:148055040G>A	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.3307G>A	X.37:g.148055040G>A	ENSP00000359489:p.Ala1103Thr	True	False		Somatic	0				AFF2_ENST00000342251.3_Missense_Mutation_p.A1070T|AFF2_ENST00000370457.5_Missense_Mutation_p.A1068T|AFF2_ENST00000286437.5_Missense_Mutation_p.A744T	p.A1103T	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	WXS	Illumina HiSeq	Phase_I	P51816	AFF2_HUMAN			16	3786	+	Acute lymphoblastic leukemia(192;6.56e-05)		1103					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	c.3307G>A	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	G	33	5.215490	0.95104	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.83211	0.5205	M	0.80616	2.505	0.58432	D	0.999999	D;D;D;D;D;D	0.89917	0.996;0.998;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.75020	0.955;0.889;0.985;0.939;0.939;0.964	D	0.85022	0.0912	10	0.66056	D	0.02	.	18.8728	0.92322	0.0:0.0:1.0:0.0	.	744;1068;1068;1064;1093;1103	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	T	1103;1068;1070;744	ENSP00000359489:A1103T;ENSP00000359486:A1068T;ENSP00000345459:A1070T;ENSP00000286437:A744T	ENSP00000286437:A744T	A	+	1	0	AFF2	147862729	1.000000	0.71417	0.964000	0.40570	0.734000	0.41952	9.827000	0.99397	2.404000	0.81709	0.600000	0.82982	GCC		0.468	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	0	NM_002025		X:148055040
GATA3	2625	broad.mit.edu	37	10	8100325	8100325	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr10:8100325G>A	ENST00000346208.3	+	3	754	c.299G>A	c.(298-300)gGc>gAc	p.G100D	GATA3_ENST00000379328.3_Missense_Mutation_p.G100D			P23771	GATA3_HUMAN	GATA binding protein 3	100					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						CTGGACGGCGGCAAAGCCCTG	0.677			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																															ENST00000379328.3		NA		Rec	yes		10	10p15	2625	"""F, N, S"""	GATA binding protein 3	yes	"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""	E			breast		0				NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						c.(298-300)gGc>gAc		GATA binding protein 3							53.0	65.0	61.0					10																	8100325		2203	4299	6502	SO:0001583	missense	2625				aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr10:8100325G>A	X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"""GATA zinc finger domain containing"""	4172	protein-coding gene	gene with protein product		131320	"""GATA-binding protein 3"""			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.299G>A	10.37:g.8100325G>A	ENSP00000341619:p.Gly100Asp	False	False		Somatic	0				GATA3_ENST00000346208.3_Missense_Mutation_p.G100D	p.G100D	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	WXS	Illumina HiSeq	Phase_I	P23771	GATA3_HUMAN			3	867	+			100					Q5VWG7|Q5VWG8|Q96J16	Missense_Mutation	SNP	ENST00000346208.3	37	c.299G>A	CCDS7083.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.231371	0.39399	.	.	ENSG00000107485	ENST00000379328;ENST00000544011;ENST00000346208	D;D	0.96365	-3.99;-3.98	5.31	5.31	0.75309	.	0.194098	0.53938	D	0.000041	D	0.95242	0.8457	L	0.50333	1.59	0.45205	D	0.998212	B;B	0.29136	0.191;0.234	B;B	0.33750	0.062;0.169	D	0.93958	0.7238	10	0.59425	D	0.04	-24.0814	18.9617	0.92679	0.0:0.0:1.0:0.0	.	100;100	P23771;P23771-2	GATA3_HUMAN;.	D	100	ENSP00000368632:G100D;ENSP00000341619:G100D	ENSP00000341619:G100D	G	+	2	0	GATA3	8140331	1.000000	0.71417	0.935000	0.37517	0.204000	0.24138	7.816000	0.86201	2.469000	0.83416	0.561000	0.74099	GGC		0.677	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046719.1	0	NM_001002295		10:8100325
BMX	660	broad.mit.edu	37	X	15554529	15554529	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chrX:15554529G>A	ENST00000357607.2	+	13	1389	c.1201G>A	c.(1201-1203)Gac>Aac	p.D401N	BMX_ENST00000348343.6_Missense_Mutation_p.D401N|BMX_ENST00000342014.6_Missense_Mutation_p.D401N			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	401					apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)|signal transduction (GO:0007165)	cytosol (GO:0005829)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					CAAGGTCCCCGACTCTGTGTC	0.408																																						ENST00000357607.2		NA																	0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30						c.(1201-1203)Gac>Aac		BMX non-receptor tyrosine kinase							151.0	123.0	132.0					X																	15554529		2203	4300	6503	SO:0001583	missense	660				cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity	g.chrX:15554529G>A	AF045459	CCDS14168.1	Xp22.2	2013-05-14			ENSG00000102010	ENSG00000102010		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	1079	protein-coding gene	gene with protein product	"""BTK-like on X chromosome"""	300101				7970727	Standard	NM_203281		Approved	ETK, PSCTK3	uc004cwx.4	P51813	OTTHUMG00000021180	ENST00000357607.2:c.1201G>A	X.37:g.15554529G>A	ENSP00000350224:p.Asp401Asn	True	False		Somatic	0				BMX_ENST00000348343.6_Missense_Mutation_p.D401N|BMX_ENST00000342014.6_Missense_Mutation_p.D401N	p.D401N			WXS	Illumina HiSeq	Phase_I	P51813	BMX_HUMAN			13	1389	+	Hepatocellular(33;0.183)		401					A6NIH9|O60564|Q12871	Missense_Mutation	SNP	ENST00000357607.2	37	c.1201G>A	CCDS14168.1	.	.	.	.	.	.	.	.	.	.	g	5.048	0.194624	0.09599	.	.	ENSG00000102010	ENST00000357607;ENST00000348343;ENST00000342014	D;D;D	0.88975	-2.45;-2.45;-2.45	4.94	-0.125	0.13519	Protein kinase-like domain (1);	1.355510	0.04879	N	0.447326	T	0.73497	0.3594	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.01281	0.0	T	0.60250	-0.7300	10	0.21014	T	0.42	.	1.3363	0.02145	0.2017:0.1429:0.4229:0.2324	.	401	P51813	BMX_HUMAN	N	401	ENSP00000350224:D401N;ENSP00000308774:D401N;ENSP00000340082:D401N	ENSP00000340082:D401N	D	+	1	0	BMX	15464450	0.000000	0.05858	0.000000	0.03702	0.143000	0.21401	-0.656000	0.05342	0.242000	0.21303	0.519000	0.50382	GAC		0.408	BMX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055877.1	0	NM_001721		X:15554529
C1RL	51279	broad.mit.edu	37	12	7249506	7249506	+	Silent	SNP	C	C	T			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr12:7249506C>T	ENST00000266542.4	-	6	1037	c.945G>A	c.(943-945)ggG>ggA	p.G315G	C1RL_ENST00000544702.1_3'UTR|C1RL_ENST00000545280.1_Intron|C1RL_ENST00000504702.2_Intron	NM_016546.2	NP_057630.2	Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like	315	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CAGGGTGGTTCCCCAGTTTCA	0.552																																						ENST00000266542.4		NA																	0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(943-945)ggG>ggA		complement component 1, r subcomponent-like							219.0	164.0	182.0					12																	7249506		2203	4300	6503	SO:0001819	synonymous_variant	51279				complement activation, classical pathway|innate immune response|proteolysis		serine-type endopeptidase activity	g.chr12:7249506C>T	AF178985	CCDS8573.1, CCDS73431.1	12p13.31	2008-02-05				ENSG00000139178			21265	protein-coding gene	gene with protein product		608974				12838346	Standard	XM_005253385		Approved	C1r-LP, C1RL1	uc001qsn.3	Q9NZP8		ENST00000266542.4:c.945G>A	12.37:g.7249506C>T		True	False		Somatic	0				C1RL_ENST00000544702.1_3'UTR|C1RL_ENST00000545280.1_Intron|C1RL_ENST00000504702.2_Intron	p.G315G	NM_016546.2	NP_057630.2	WXS	Illumina HiSeq	Phase_I	Q9NZP8	C1RL_HUMAN			6	1037	-			315			Peptidase S1.		Q53GX9	Silent	SNP	ENST00000266542.4	37	c.945G>A	CCDS8573.1	.	.	.	.	.	.	.	.	.	.	C	3.389	-0.124736	0.06795	.	.	ENSG00000139178	ENST00000534950	.	.	.	4.98	-9.95	0.00446	.	.	.	.	.	T	0.42063	0.1186	.	.	.	0.46185	D	0.998912	.	.	.	.	.	.	T	0.49835	-0.8897	4	.	.	.	.	5.2161	0.15344	0.0767:0.1221:0.3579:0.4432	.	.	.	.	K	148	.	.	E	-	1	0	C1RL	7140648	0.000000	0.05858	0.000000	0.03702	0.641000	0.38312	-2.582000	0.00905	-2.698000	0.00400	-0.350000	0.07774	GAA		0.552	C1RL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398367.1	0	NM_016546		12:7249506
ARHGEF10	9639	broad.mit.edu	37	8	1857468	1857468	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr8:1857468C>T	ENST00000398564.1	+	18	2050	c.2050C>T	c.(2050-2052)Cat>Tat	p.H684Y	ARHGEF10_ENST00000518288.1_Missense_Mutation_p.H683Y|ARHGEF10_ENST00000520359.1_Missense_Mutation_p.H621Y|ARHGEF10_ENST00000262112.6_Missense_Mutation_p.H684Y|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.H659Y			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	684					centrosome duplication (GO:0051298)|myelination in peripheral nervous system (GO:0022011)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cytosol (GO:0005829)	kinesin binding (GO:0019894)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		CAGCCCCTCTCATGACAGCCG	0.502																																						ENST00000518288.1		NA																	0				endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35						c.(2047-2049)Cat>Tat		Rho guanine nucleotide exchange factor (GEF) 10							196.0	187.0	190.0					8																	1857468		2203	4300	6503	SO:0001583	missense	9639				centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity	g.chr8:1857468C>T	AF009205	CCDS34794.1	8p23	2014-09-17			ENSG00000104728	ENSG00000104728		"""Rho guanine nucleotide exchange factors"""	14103	protein-coding gene	gene with protein product		608136				9205841, 16896804	Standard	XM_005266039		Approved	KIAA0294, Gef10	uc003wpr.3	O15013	OTTHUMG00000163626	ENST00000398564.1:c.2050C>T	8.37:g.1857468C>T	ENSP00000381571:p.His684Tyr	False	False		Somatic	0				ARHGEF10_ENST00000262112.6_Missense_Mutation_p.H684Y|ARHGEF10_ENST00000398564.1_Missense_Mutation_p.H684Y|ARHGEF10_ENST00000520359.1_Missense_Mutation_p.H621Y|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.H659Y	p.H683Y			WXS	Illumina HiSeq	Phase_I	O15013	ARHGA_HUMAN		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)	19	2210	+		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)	684					O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	Missense_Mutation	SNP	ENST00000398564.1	37	c.2047C>T		.	.	.	.	.	.	.	.	.	.	C	9.289	1.050147	0.19827	.	.	ENSG00000104728	ENST00000349830;ENST00000520359;ENST00000518288;ENST00000398564;ENST00000262112;ENST00000522435	T;T;T;T;T;T	0.17854	2.25;2.25;2.25;2.25;2.25;2.25	4.83	4.83	0.62350	.	1.318090	0.04904	N	0.451894	T	0.19127	0.0459	L	0.41961	1.31	0.58432	D	0.999998	B;B;B	0.09022	0.002;0.001;0.002	B;B;B	0.10450	0.002;0.002;0.005	T	0.08166	-1.0735	10	0.30854	T	0.27	-11.2687	10.5542	0.45107	0.0:0.9011:0.0:0.0989	.	684;621;659	O15013;O15013-7;O15013-5	ARHGA_HUMAN;.;.	Y	659;621;683;684;684;332	ENSP00000340297:H659Y;ENSP00000427909:H621Y;ENSP00000431012:H683Y;ENSP00000381571:H684Y;ENSP00000262112:H684Y;ENSP00000427768:H332Y	ENSP00000262112:H684Y	H	+	1	0	ARHGEF10	1844875	0.530000	0.26330	0.020000	0.16555	0.010000	0.07245	1.655000	0.37345	2.382000	0.81193	0.644000	0.83932	CAT		0.502	ARHGEF10-203	KNOWN	basic	protein_coding	protein_coding		0			8:1857468
WDR90	197335	broad.mit.edu	37	16	701015	701015	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr16:701015G>A	ENST00000293879.4	+	6	580	c.580G>A	c.(580-582)Gca>Aca	p.A194T	AL022341.3_ENST00000455294.1_RNA|WDR90_ENST00000549091.1_Missense_Mutation_p.A194T			Q96KV7	WDR90_HUMAN	WD repeat domain 90	194										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GGCCCAGTGGGCAAAGCTGCC	0.607																																						ENST00000549091.1		NA																	0				endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37						c.(580-582)Gca>Aca		WD repeat domain 90							80.0	88.0	85.0					16																	701015		2163	4274	6437	SO:0001583	missense	197335							g.chr16:701015G>A	AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"""WD repeat domain containing"""	26960	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 17"", ""chromosome 16 open reading frame 15"", ""chromosome 16 open reading frame 16"", ""chromosome 16 open reading frame 19"", ""chromosome 16 open reading frame 18"""	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.580G>A	16.37:g.701015G>A	ENSP00000293879:p.Ala194Thr	True	False		Somatic	0				WDR90_ENST00000293879.4_Missense_Mutation_p.A194T	p.A194T	NM_145294.4	NP_660337.3	WXS	Illumina HiSeq	Phase_I	Q96KV7	WDR90_HUMAN			6	672	+		Hepatocellular(780;0.0218)	194					Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Missense_Mutation	SNP	ENST00000293879.4	37	c.580G>A	CCDS42092.1	.	.	.	.	.	.	.	.	.	.	G	11.67	1.708198	0.30322	.	.	ENSG00000161996	ENST00000549091;ENST00000293879	T;T	0.29917	1.59;1.55	4.95	0.105	0.14535	.	0.781301	0.10905	U	0.621191	T	0.20820	0.0501	L	0.41415	1.275	0.09310	N	1	B;B;B	0.23377	0.018;0.001;0.084	B;B;B	0.18561	0.008;0.007;0.022	T	0.24225	-1.0166	10	0.51188	T	0.08	.	3.5213	0.07743	0.163:0.1287:0.5759:0.1324	.	194;194;194	Q96KV7;C9JMK1;Q96KV7-3	WDR90_HUMAN;.;.	T	194	ENSP00000448122:A194T;ENSP00000293879:A194T	ENSP00000293879:A194T	A	+	1	0	WDR90	641016	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.073000	0.14640	-0.197000	0.10350	-1.020000	0.02445	GCA		0.607	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	0	NM_145294		16:701015
ATP1A4	480	broad.mit.edu	37	1	160151577	160151577	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr1:160151577G>A	ENST00000368081.4	+	19	3311	c.2840G>A	c.(2839-2841)cGc>cAc	p.R947H	ATP1A4_ENST00000470705.1_Missense_Mutation_p.R83H|ATP1A4_ENST00000418334.1_3'UTR	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	947					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AAGACTCGCCGCAACTCACTT	0.527																																						ENST00000368081.4		NA																	0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75						c.(2839-2841)cGc>cAc		ATPase, Na+/K+ transporting, alpha 4 polypeptide							140.0	143.0	142.0					1																	160151577		2203	4300	6503	SO:0001583	missense	480				ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160151577G>A	BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"""ATPases / P-type"""	14073	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-4"", ""sodium pump subunit alpha-4"", ""sodium-potassium ATPase catalytic subunit alpha-4"""	607321	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 2"""	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.2840G>A	1.37:g.160151577G>A	ENSP00000357060:p.Arg947His	False	False		Somatic	0				ATP1A4_ENST00000470705.1_Missense_Mutation_p.R83H|ATP1A4_ENST00000418334.1_3'UTR	p.R947H	NM_144699.3	NP_653300.2	WXS	Illumina HiSeq	Phase_I	Q13733	AT1A4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		19	3311	+	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		947					Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Missense_Mutation	SNP	ENST00000368081.4	37	c.2840G>A	CCDS1197.1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.273977	0.59649	.	.	ENSG00000132681	ENST00000368081;ENST00000470705	D;D	0.89050	-2.46;-2.46	4.16	4.16	0.48862	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.94978	0.8375	M	0.93898	3.47	0.53688	D	0.999979	D	0.89917	1.0	D	0.69824	0.966	D	0.95874	0.8893	10	0.87932	D	0	.	14.3343	0.66578	0.0:0.0:1.0:0.0	.	947	Q13733	AT1A4_HUMAN	H	947;83	ENSP00000357060:R947H;ENSP00000433094:R83H	ENSP00000357060:R947H	R	+	2	0	ATP1A4	158418201	0.992000	0.36948	0.712000	0.30502	0.048000	0.14542	5.550000	0.67268	2.315000	0.78130	0.455000	0.32223	CGC		0.527	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077415.1	0	NM_144699		1:160151577
CCDC40	55036	broad.mit.edu	37	17	78039368	78039368	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr17:78039368C>T	ENST00000397545.4	+	10	1552	c.1525C>T	c.(1525-1527)Cgc>Tgc	p.R509C	CCDC40_ENST00000269318.5_Missense_Mutation_p.R509C|CCDC40_ENST00000374876.4_Intron|CCDC40_ENST00000374877.3_Missense_Mutation_p.R509C	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	509					axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)		p.R509G(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CATGAAGCACCGCGACGAGGC	0.692																																						ENST00000397545.4		NA																	2	Substitution - Missense(2)	p.R509G(2)	kidney(2)	NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38						c.(1525-1527)Cgc>Tgc		coiled-coil domain containing 40							45.0	53.0	50.0					17																	78039368		2128	4238	6366	SO:0001583	missense	55036				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm		g.chr17:78039368C>T	AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.1525C>T	17.37:g.78039368C>T	ENSP00000380679:p.Arg509Cys	False	False		Somatic	0				CCDC40_ENST00000374877.3_Missense_Mutation_p.R509C|CCDC40_ENST00000374876.4_Intron|CCDC40_ENST00000269318.5_Missense_Mutation_p.R509C	p.R509C	NM_017950.3	NP_060420.2	WXS	Illumina HiSeq	Phase_I	Q4G0X9	CCD40_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)		10	1552	+	all_neural(118;0.167)		509					A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Missense_Mutation	SNP	ENST00000397545.4	37	c.1525C>T	CCDS42395.1	.	.	.	.	.	.	.	.	.	.	C	14.52	2.560125	0.45590	.	.	ENSG00000141519	ENST00000374877;ENST00000269318;ENST00000397545	T;D;T	0.85171	0.02;-1.95;0.17	5.14	5.14	0.70334	.	.	.	.	.	D	0.92639	0.7661	M	0.84846	2.72	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.93632	0.6957	9	0.87932	D	0	-17.7899	14.2557	0.66051	0.1497:0.8503:0.0:0.0	.	509;292	Q4G0X9;Q4G0X9-3	CCD40_HUMAN;.	C	509	ENSP00000364011:R509C;ENSP00000269318:R509C;ENSP00000380679:R509C	ENSP00000269318:R509C	R	+	1	0	CCDC40	75653963	0.993000	0.37304	0.038000	0.18304	0.025000	0.11179	3.700000	0.54786	2.390000	0.81377	0.655000	0.94253	CGC		0.692	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256005.2	0	XM_371082		17:78039368
TUBA4B	80086	broad.mit.edu	37	2	220136561	220136561	+	RNA	SNP	C	C	T			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr2:220136561C>T	ENST00000490341.1	+	0	1031					NR_003063.1		Q9H853	TBA4B_HUMAN	tubulin, alpha 4b (pseudogene)						microtubule-based process (GO:0007017)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	GTP binding (GO:0005525)|structural constituent of cytoskeleton (GO:0005200)										GCCCCACAGGCTTTAAGGTTG	0.527																																						ENST00000490341.1		NA																	0					NA																																														0							g.chr2:220136561C>T	AK024002		2q35	2014-03-20	2007-03-16	2007-02-12	ENSG00000243910	ENSG00000243910		"""Tubulins"""	18637	pseudogene	pseudogene			"""tubulin, alpha 4"", ""tubulin, alpha 4b"""	TUBA4		3785200	Standard	NR_003063		Approved	FLJ13940	uc002vkv.1	Q9H853	OTTHUMG00000154516		2.37:g.220136561C>T		True	False		Somatic	0						NR_003063.1		WXS	Illumina HiSeq	Phase_I					0	1031	+			NA						RNA	SNP	ENST00000490341.1	37																																																																																						0.527	TUBA4B-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000335637.1	0	NR_003063		2:220136561
GABRA6	2559	broad.mit.edu	37	5	161128572	161128572	+	Silent	SNP	C	C	T			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr5:161128572C>T	ENST00000274545.5	+	9	1588	c.1155C>T	c.(1153-1155)tcC>tcT	p.S385S	GABRA6_ENST00000523217.1_Silent_p.S375S			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	385					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.S385S(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	TTTCATCTTCCGAGGCCAATA	0.453										TCGA Ovarian(5;0.080)																												ENST00000523217.1		NA																	1	Substitution - coding silent(1)	p.S385S(1)	large_intestine(1)	breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57						c.(1123-1125)tcC>tcT		gamma-aminobutyric acid (GABA) A receptor, alpha 6	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						104.0	104.0	104.0					5																	161128572		2203	4300	6503	SO:0001819	synonymous_variant	2559				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	g.chr5:161128572C>T		CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4080	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 6"""	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.1155C>T	5.37:g.161128572C>T		False	False	TCGA Ovarian(5;0.080)	Somatic	0				GABRA6_ENST00000274545.5_Silent_p.S385S	p.S375S	NM_000811.2	NP_000802.2	WXS	Illumina HiSeq	Phase_I	Q16445	GBRA6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		9	1367	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	385					A8K096|Q4VAV2	Silent	SNP	ENST00000274545.5	37	c.1125C>T	CCDS4356.1																																																																																				0.453	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2	0			5:161128572
KALRN	8997	broad.mit.edu	37	3	123813705	123813705	+	Missense_Mutation	SNP	C	C	G			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr3:123813705C>G	ENST00000240874.3	+	1	178	c.21C>G	c.(19-21)gaC>gaG	p.D7E	KALRN_ENST00000460856.1_Missense_Mutation_p.D7E|KALRN_ENST00000477496.1_3'UTR|KALRN_ENST00000360013.3_Missense_Mutation_p.D7E	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	7					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GCTTCTGGGACCAGTGGTATC	0.557																																						ENST00000360013.3		NA																	0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						c.(19-21)gaC>gaG		kalirin, RhoGEF kinase							188.0	135.0	153.0					3																	123813705		2203	4300	6503	SO:0001583	missense	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:123813705C>G	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.21C>G	3.37:g.123813705C>G	ENSP00000240874:p.Asp7Glu	False	False		Somatic	0				KALRN_ENST00000477496.1_3'UTR|KALRN_ENST00000240874.3_Missense_Mutation_p.D7E|KALRN_ENST00000460856.1_Missense_Mutation_p.D7E	p.D7E	NM_001024660.3	NP_001019831.2	WXS	Illumina HiSeq	Phase_I	O60229	KALRN_HUMAN			1	148	+			7					A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000240874.3	37	c.21C>G	CCDS3027.1	.	.	.	.	.	.	.	.	.	.	c	14.72	2.619680	0.46736	.	.	ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013	T;T;T	0.59772	0.78;0.71;0.24	3.7	2.81	0.32909	.	0.724489	0.11133	U	0.596093	T	0.40767	0.1130	N	0.08118	0	0.80722	D	1	P;P;P	0.41597	0.643;0.643;0.756	B;B;P	0.49752	0.417;0.417;0.621	T	0.31558	-0.9939	10	0.02654	T	1	.	8.5829	0.33640	0.2295:0.7705:0.0:0.0	.	7;7;7	C9IZQ6;O60229;O60229-2	.;KALRN_HUMAN;.	E	7	ENSP00000418611:D7E;ENSP00000240874:D7E;ENSP00000353109:D7E	ENSP00000240874:D7E	D	+	3	2	KALRN	125296395	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.530000	0.23036	1.118000	0.41863	0.486000	0.48141	GAC		0.557	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	0	NM_003947		3:123813705
IPO5	3843	broad.mit.edu	37	13	98658520	98658520	+	Missense_Mutation	SNP	C	C	T	rs566255473		TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr13:98658520C>T	ENST00000490680.1	+	14	1699	c.1634C>T	c.(1633-1635)gCg>gTg	p.A545V	IPO5_ENST00000539640.1_Missense_Mutation_p.A420V|IPO5_ENST00000261574.5_Missense_Mutation_p.A563V|IPO5_ENST00000493492.2_3'UTR			O00410	IPO5_HUMAN	importin 5	545					cellular response to amino acid stimulus (GO:0071230)|negative regulation of catalytic activity (GO:0043086)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|ribosomal protein import into nucleus (GO:0006610)|viral process (GO:0016032)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						GTTGAGAATGCGGTTCAAAAA	0.378													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16537	0.0		0.0	False		,,,				2504	0.0					ENST00000261574.5		NA																	0				breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						c.(1687-1689)gCg>gTg		importin 5							95.0	92.0	93.0					13																	98658520		2203	4300	6503	SO:0001583	missense	3843				interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding	g.chr13:98658520C>T	U72761	CCDS31999.1	13q32.2	2012-05-02	2008-04-15	2008-04-15	ENSG00000065150	ENSG00000065150		"""Importins"""	6402	protein-coding gene	gene with protein product		602008	"""karyopherin (importin) beta 3"", ""RAN binding protein 5"""	KPNB3, RANBP5		9114010, 9271386, 17005651	Standard	NM_002271		Approved	IMB3, MGC2068, Pse1	uc001vne.3	O00410	OTTHUMG00000017244	ENST00000490680.1:c.1634C>T	13.37:g.98658520C>T	ENSP00000418393:p.Ala545Val	False	False		Somatic	0				IPO5_ENST00000490680.1_Missense_Mutation_p.A545V|IPO5_ENST00000493492.2_3'UTR|IPO5_ENST00000539640.1_Missense_Mutation_p.A420V	p.A563V	NM_002271.4	NP_002262.3	WXS	Illumina HiSeq	Phase_I	O00410	IPO5_HUMAN			17	1868	+			545					B4DZA0|O15257|Q5T578|Q86XC7	Missense_Mutation	SNP	ENST00000490680.1	37	c.1688C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.423620|5.423620	0.96111|0.96111	.|.	.|.	ENSG00000065150|ENSG00000065150	ENST00000261574;ENST00000357602;ENST00000490680;ENST00000539640|ENST00000469360	T;T;T;T|.	0.24350|.	1.86;1.86;1.86;1.86|.	5.1|5.1	5.1|5.1	0.69264|0.69264	Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76644|0.76644	0.4016|0.4016	M|M	0.73962|0.73962	2.25|2.25	0.80722|0.80722	D|D	1|1	P;D;D|.	0.69078|.	0.947;0.995;0.997|.	P;P;P|.	0.54664|.	0.59;0.578;0.758|.	T|T	0.76512|0.76512	-0.2932|-0.2932	10|5	0.72032|.	D|.	0.01|.	-10.5253|-10.5253	18.8688|18.8688	0.92305|0.92305	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	420;545;563|.	B4E0R6;O00410;O00410-3|.	.;IPO5_HUMAN;.|.	V|W	563;545;545;420|547	ENSP00000261574:A563V;ENSP00000350219:A545V;ENSP00000418393:A545V;ENSP00000445126:A420V|.	ENSP00000261574:A563V|.	A|R	+|+	2|1	0|2	IPO5|IPO5	97456521|97456521	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	5.928000|5.928000	0.70088|0.70088	2.525000|2.525000	0.85131|0.85131	0.460000|0.460000	0.39030|0.39030	GCG|CGG		0.378	IPO5-006	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000354655.1	0	NM_002271		13:98658520
