#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
ATRNL1	26033	broad.mit.edu	37	10	117221467	117221474	+	Frame_Shift_Del	DEL	TTATCAAT	TTATCAAT	-			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	TTATCAAT	TTATCAAT	-	-	TTATCAAT	TTATCAAT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr10:117221467_117221474delTTATCAAT	ENST00000355044.3	+	22	3465_3472	c.3339_3346delTTATCAAT	c.(3337-3348)gattatcaatttfs	p.YQF1114fs	ATRNL1_ENST00000303745.7_Intron|ATRNL1_ENST00000423111.2_Frame_Shift_Del_p.YQF165fs	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1114					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TTTTGATTGATTATCAATTTACCTTCAG	0.322																																						ENST00000355044.3		NA																	0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(3337-3348)gattatcaatttfs		attractin-like 1																																				SO:0001589	frameshift_variant	26033					integral to membrane	sugar binding	g.chr10:117221467_117221474delTTATCAAT	AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.3339_3346delTTATCAAT	10.37:g.117221467_117221474delTTATCAAT	ENSP00000347152:p.Tyr1114fs	False	False		Somatic	1				ATRNL1_ENST00000423111.2_Frame_Shift_Del_p.YQF165fs|ATRNL1_ENST00000303745.7_Intron	p.YQF1114fs	NM_207303.2	NP_997186.1	WXS	Illumina HiSeq	Phase_I	Q5VV63	ATRN1_HUMAN		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)	22	3465_3472	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)	1114					O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Frame_Shift_Del	DEL	ENST00000355044.3	37	c.3339_3346delTTATCAAT	CCDS7592.1																																																																																				0.322	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	0	XM_049349		10:117221467
HMGCS2	3158	broad.mit.edu	37	1	120299899	120299900	+	Frame_Shift_Ins	INS	-	-	GTGAGACCTGGTCCCTAAAAAAATAAAAAATAAAAAT			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr1:120299899_120299900insGTGAGACCTGGTCCCTAAAAAAATAAAAAATAAAAAT	ENST00000369406.3	-	5	1061_1062	c.1012_1013insATTTTTATTTTTTATTTTTTTAGGGACCAGGTCTCAC	c.(1012-1014)ttcfs	p.F338fs	HMGCS2_ENST00000476640.1_5'UTR|HMGCS2_ENST00000544913.2_Frame_Shift_Ins_p.F296fs	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	338					cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|ketone body biosynthetic process (GO:0046951)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxymethylglutaryl-CoA synthase activity (GO:0004421)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		AACTCACCCGAAAGCCTCCAGC	0.535																																						ENST00000369406.3		NA																	0				NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28						c.(1012-1014)ttcfs		3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)																																				SO:0001589	frameshift_variant	3158				acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity	g.chr1:120299899_120299900insGTGAGACCTGGTCCCTAAAAAAATAAAAAATAAAAAT	BC044217	CCDS905.1, CCDS53353.1	1p13-p12	2014-09-17	2010-04-30		ENSG00000134240	ENSG00000134240			5008	protein-coding gene	gene with protein product		600234	"""3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2 (mitochondrial)"""			7851882, 7893153	Standard	NM_005518		Approved		uc001eid.3	P54868	OTTHUMG00000012101	ENST00000369406.3:c.1012_1013insATTTTTATTTTTTATTTTTTTAGGGACCAGGTCTCAC	1.37:g.120299899_120299900insGTGAGACCTGGTCCCTAAAAAAATAAAAAATAAAAAT	ENSP00000358414:p.Phe338fs	True	False		Somatic	0				HMGCS2_ENST00000476640.1_5'UTR|HMGCS2_ENST00000544913.2_Frame_Shift_Ins_p.F296fs	p.F338fs	NM_005518.3	NP_005509.1	WXS	Illumina HiSeq	Phase_I	P54868	HMCS2_HUMAN		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)	5	1061_1062	-	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)	338					B7Z8R3|D3Y5K6|Q5SZU2|Q6IBF4	Frame_Shift_Ins	INS	ENST00000369406.3	37	c.1012_1013insATTTTTATTTTTTATTTTTTTAGGGACCAGGTCTCAC	CCDS905.1																																																																																				0.535	HMGCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033469.2	0	NM_005518		1:120299899
RBM4	5936	broad.mit.edu	37	11	66411364	66411384	+	In_Frame_Del	DEL	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-	-	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr11:66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	ENST00000409406.1	+	2	1633_1653	c.856_876delGCTGCTGCTGCAGCAGCAGCC	c.(856-876)gctgctgctgcagcagcagccdel	p.AAAAAAA286del	RBM4_ENST00000396053.4_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000514361.3_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000503028.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000408993.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000578778.1_Intron|RBM4_ENST00000398692.4_Intron|RBM4_ENST00000310092.7_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000530235.1_Intron|RBM4_ENST00000506523.2_Intron|RBM14-RBM4_ENST00000412278.2_In_Frame_Del_p.AAAAAAA261del			Q9BWF3	RBM4_HUMAN	RNA binding motif protein 4	286	Interaction with TNPO3.|Poly-Ala.				cap-independent translational initiation (GO:0002190)|cell differentiation (GO:0030154)|circadian regulation of translation (GO:0097167)|entrainment of circadian clock by photoperiod (GO:0043153)|IRES-dependent translational initiation (GO:0002192)|mRNA processing (GO:0006397)|negative regulation of translation (GO:0017148)|negative regulation of translation in response to stress (GO:0032055)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of nucleocytoplasmic transport (GO:0046822)|response to arsenic-containing substance (GO:0046685)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|stress-activated MAPK cascade (GO:0051403)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	miRNA binding (GO:0035198)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA intronic binding (GO:0097157)|pre-mRNA intronic pyrimidine-rich binding (GO:0097158)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		tgctgccacagctgctgctgcagcagcagccgctgctgctg	0.615																																						ENST00000412278.2		NA																	0					NA						c.(781-801)gctgctgctgcagcagcagccdel																																						SO:0001651	inframe_deletion	0							g.chr11:66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	U89505	CCDS41676.1, CCDS55776.1, CCDS55777.1	11q13	2013-02-12			ENSG00000173933	ENSG00000173933		"""Zinc fingers, CCHC domain containing"", ""RNA binding motif (RRM) containing"""	9901	protein-coding gene	gene with protein product		602571				9169144, 16260624	Standard	NM_002896		Approved	LARK, RBM4A, ZCRB3A, ZCCHC21		Q9BWF3	OTTHUMG00000154171	ENST00000409406.1:c.856_876delGCTGCTGCTGCAGCAGCAGCC	11.37:g.66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	ENSP00000386894:p.Ala286_Ala292del	True	False		Somatic	1				RBM4_ENST00000506523.2_Intron|RBM4_ENST00000409406.1_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000514361.3_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000310092.7_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000503028.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000578778.1_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000408993.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000398692.4_Intron|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000530235.1_Intron	p.AAAAAAA261del	NM_001198845.1	NP_001185774.1	WXS	Illumina HiSeq	Phase_I					2	876_896	+			NA					B3KUN0|B4E1U0|E7EQS3|O02916|Q4VC48|Q6P1P2|Q8WU85	In_Frame_Del	DEL	ENST00000409406.1	37	c.781_801delGCTGCTGCTGCAGCAGCAGCC	CCDS41676.1																																																																																				0.615	RBM4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334212.1	0	NM_002896		11:66411364
GOLGA8DP	100132979	broad.mit.edu	37	15	22709019	22709060	+	RNA	DEL	CCGAAGCCTCTCCTCCTGCTCTGGAAGCCTCTCCTGCTGCTC	CCGAAGCCTCTCCTCCTGCTCTGGAAGCCTCTCCTGCTGCTC	-	rs374515784|rs374457347|rs577459437|rs78927311	byFrequency	TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	CCGAAGCCTCTCCTCCTGCTCTGGAAGCCTCTCCTGCTGCTC	CCGAAGCCTCTCCTCCTGCTCTGGAAGCCTCTCCTGCTGCTC	-	-	CCGAAGCCTCTCCTCCTGCTCTGGAAGCCTCTCCTGCTGCTC	CCGAAGCCTCTCCTCCTGCTCTGGAAGCCTCTCCTGCTGCTC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr15:22709019_22709060delCCGAAGCCTCTCCTCCTGCTCTGGAAGCCTCTCCTGCTGCTC	ENST00000314246.8	-	0	1336_1377				RN7SL545P_ENST00000495815.2_RNA			Q0D2H9	GOG8D_HUMAN	golgin A8 family, member D, pseudogene							Golgi apparatus (GO:0005794)											CGGCCAGCTGCCGAAGCCTCTCCTCCTGCTCTGGAAGCCTCTCCTGCTGCTCCTGAAGCCTC	0.632																																						ENST00000314246.8		NA																	0					NA																																														0							g.chr15:22709019_22709060delCCGAAGCCTCTCCTCCTGCTCTGGAAGCCTCTCCTGCTGCTC			15q11.2	2014-04-10	2011-04-15	2010-02-12	ENSG00000185182	ENSG00000185182			32376	pseudogene	pseudogene			"""golgi autoantigen, golgin subfamily a, 8D"""	GOLGA8D		12477932	Standard	NR_027407		Approved		uc010axw.2	Q0D2H9	OTTHUMG00000171882		15.37:g.22709019_22709060delCCGAAGCCTCTCCTCCTGCTCTGGAAGCCTCTCCTGCTGCTC		False	False		Somatic	1								WXS	Illumina HiSeq	Phase_I					0	1336_1377	-			NA						RNA	DEL	ENST00000314246.8	37																																																																																						0.632	GOLGA8DP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415613.1	0	NR_027407		15:22709019
RMI2	116028	broad.mit.edu	37	16	11444642	11444643	+	Frame_Shift_Ins	INS	-	-	TTTTT			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr16:11444642_11444643insTTTTT	ENST00000312499.5	+	2	480_481	c.439_440insTTTTT	c.(439-441)cctfs	p.P147fs	RMI2_ENST00000576027.1_3'UTR|RP11-485G7.6_ENST00000574681.1_RNA|RMI2_ENST00000381820.2_Frame_Shift_Ins_p.P84fs|AC009121.1_ENST00000458885.1_RNA|RMI2_ENST00000572173.1_Frame_Shift_Ins_p.P84fs	NM_152308.1	NP_689521.1	Q96E14	RMI2_HUMAN	RecQ mediated genome instability 2	147					DNA replication (GO:0006260)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|kidney(1)|ovary(1)	3						CAGGAATATTCCTTAGAGTATG	0.396																																						ENST00000572173.1		NA																	0				endometrium(1)|kidney(1)|ovary(1)	3						c.(250-252)cctfs		RecQ mediated genome instability 2																																				SO:0001589	frameshift_variant	116028				DNA replication	nucleus	DNA binding	g.chr16:11444642_11444643insTTTTT	AK123764	CCDS10548.1	16p13.13	2013-06-10	2013-06-10	2011-06-09	ENSG00000175643	ENSG00000175643			28349	protein-coding gene	gene with protein product		612426	"""chromosome 16 open reading frame 75"", ""RMI2, RecQ mediated genome instability 2, homolog (S. cerevisiae)"""	C16orf75		18923083, 20826341	Standard	NM_152308		Approved	MGC24665, BLAP18	uc002daw.1	Q96E14	OTTHUMG00000129793	Exception_encountered	16.37:g.11444642_11444643insTTTTT	ENSP00000310356:p.Pro147fs	False	False		Somatic	0				RMI2_ENST00000312499.5_Frame_Shift_Ins_p.P147fs|RMI2_ENST00000576027.1_3'UTR|RMI2_ENST00000381820.2_Frame_Shift_Ins_p.P84fs	p.P84fs			WXS	Illumina HiSeq	Phase_I	Q96E14	RMI2_HUMAN			5	895_896	+			147					B3KVZ6|Q49AE2|Q8TBL0	Frame_Shift_Ins	INS	ENST00000312499.5	37	c.250_251insTTTTT	CCDS10548.1																																																																																				0.396	RMI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252019.1	0	NM_152308		16:11444642
ABCC6	368	broad.mit.edu	37	16	16284067	16284068	+	Frame_Shift_Ins	INS	-	-	GG			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr16:16284067_16284068insGG	ENST00000205557.7	-	12	1617_1618	c.1588_1589insCC	c.(1588-1590)ctcfs	p.L530fs	ABCC6_ENST00000574094.1_5'UTR	NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	530	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	Cisplatin(DB00515)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Etoposide(DB00773)|Indomethacin(DB00328)|Probenecid(DB01032)|Sulfinpyrazone(DB01138)|Teniposide(DB00444)|Vinblastine(DB00570)	AGAGAAGAGGAGGCCGGAGGTC	0.594																																						ENST00000205557.7		NA																	0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43						c.(1588-1590)ctcfs		ATP-binding cassette, sub-family C (CFTR/MRP), member 6																																				SO:0001589	frameshift_variant	368				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16284067_16284068insGG	AF076622	CCDS10568.1, CCDS58430.1	16p13.11	2013-01-08			ENSG00000091262	ENSG00000091262		"""ATP binding cassette transporters / subfamily C"""	57	protein-coding gene	gene with protein product		603234	"""pseudoxanthoma elasticum"""	ARA, PXE		9721217, 11439001	Standard	NM_001079528		Approved	MRP6, EST349056, MLP1, URG7	uc002den.4	O95255	OTTHUMG00000129967	ENST00000205557.7:c.1587_1588dupCC	16.37:g.16284068_16284069dupGG	ENSP00000205557:p.Leu530fs	False	False		Somatic	2				ABCC6_ENST00000574094.1_5'UTR	p.L530fs	NM_001171.5	NP_001162.4	WXS	Illumina HiSeq	Phase_I	O95255	MRP6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	12	1617_1618	-			530			ABC transmembrane type-1 1.		A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Frame_Shift_Ins	INS	ENST00000205557.7	37	c.1588_1589insCC	CCDS10568.1																																																																																				0.594	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252232.2	0			16:16284067
ZFHX3	463	broad.mit.edu	37	16	72991713	72991715	+	In_Frame_Del	DEL	CCA	CCA	-	rs4788682	byFrequency	TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	CCA	CCA	-	-	CCA	CCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr16:72991713_72991715delCCA	ENST00000268489.5	-	2	3002_3004	c.2330_2332delTGG	c.(2329-2334)gtggct>gct	p.V777del	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	777	Poly-Ala.		V -> A (in dbSNP:rs4788682). {ECO:0000269|PubMed:7592926}.		brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.V777V(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				gccgccgcagccaccgccgccgc	0.635																																						ENST00000268489.5		NA																	1	Substitution - coding silent(1)	p.V777V(1)	lung(1)	NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(2329-2334)gtggct>gct		zinc finger homeobox 3			,	1706,1886		582,542,672					,	5.5	0.1			17	4240,2792		1606,1028,882	no	coding,intron	ZFHX3	NM_006885.3,NM_001164766.1	,	2188,1570,1554	A1A1,A1R,RR		39.7042,47.4944,44.0324	,	,		5946,4678				SO:0001651	inframe_deletion	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72991713_72991715delCCA	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.2330_2332delTGG	16.37:g.72991713_72991715delCCA	ENSP00000268489:p.Val777del	False	False		Somatic	1				ZFHX3_ENST00000397992.5_Intron	p.V777del	NM_006885.3	NP_008816.3	WXS	Illumina HiSeq	Phase_I	Q15911	ZFHX3_HUMAN			2	3002_3004	-		Ovarian(137;0.13)	777		V -> A (in dbSNP:rs4788682).	Poly-Ala.		D3DWS8|O15101|Q13719	In_Frame_Del	DEL	ENST00000268489.5	37	c.2330_2332delTGG	CCDS10908.1																																																																																				0.635	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	0	NM_006885		16:72991713
COL1A1	1277	broad.mit.edu	37	17	48267045	48267062	+	In_Frame_Del	DEL	GGCCAGGAGGACCGACTC	GGCCAGGAGGACCGACTC	-	rs72653149|rs72653148		TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	GGCCAGGAGGACCGACTC	GGCCAGGAGGACCGACTC	-	-	GGCCAGGAGGACCGACTC	GGCCAGGAGGACCGACTC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr17:48267045_48267062delGGCCAGGAGGACCGACTC	ENST00000225964.5	-	38	2763_2780	c.2645_2662delGAGTCGGTCCTCCTGGCC	c.(2644-2664)cgagtcggtcctcctggcccc>ccc	p.RVGPPG882del		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	882	Triple-helical region.				blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	CTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGC	0.61			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta																															ENST00000225964.5		NA		Dom	yes		17	17q21.31-q22	1277	T	"""collagen, type I, alpha 1"""	yes	Osteogenesis imperfecta	M	"""PDGFB, USP6"""		"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """	COL1A1/PDGFB(429)	0				NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71	GRCh37	CD042188|CM070743|CM090260	COL1A1	D|M	rs72653148|rs72653149	c.(2644-2664)cgagtcggtcctcctggcccc>ccc		collagen, type I, alpha 1	Collagenase(DB00048)|Palifermin(DB00039)																																			SO:0001651	inframe_deletion	1277				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	g.chr17:48267045_48267062delGGCCAGGAGGACCGACTC	Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"""Collagens"""	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.2645_2662delGAGTCGGTCCTCCTGGCC	17.37:g.48267045_48267062delGGCCAGGAGGACCGACTC	ENSP00000225964:p.Arg882_Gly887del	False	False		Somatic	1					p.RVGPPG882del	NM_000088.3	NP_000079.2	WXS	Illumina HiSeq	Phase_I	P02452	CO1A1_HUMAN			38	2763_2780	-			882			Triple-helical region.		O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	In_Frame_Del	DEL	ENST00000225964.5	37	c.2645_2662delGAGTCGGTCCTCCTGGCC	CCDS11561.1																																																																																				0.610	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2	0			17:48267045
MUC16	94025	broad.mit.edu	37	19	9090465	9090513	+	Frame_Shift_Del	DEL	TTCGGACTCTTCTCCAGGAGCAGAGGTCTCAAGTGGAGTCATAGATGTA	TTCGGACTCTTCTCCAGGAGCAGAGGTCTCAAGTGGAGTCATAGATGTA	-	rs192766270|rs370013119|rs540818069|rs200301454|rs187576768	byFrequency	TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	TTCGGACTCTTCTCCAGGAGCAGAGGTCTCAAGTGGAGTCATAGATGTA	TTCGGACTCTTCTCCAGGAGCAGAGGTCTCAAGTGGAGTCATAGATGTA	-	-	TTCGGACTCTTCTCCAGGAGCAGAGGTCTCAAGTGGAGTCATAGATGTA	TTCGGACTCTTCTCCAGGAGCAGAGGTCTCAAGTGGAGTCATAGATGTA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr19:9090465_9090513delTTCGGACTCTTCTCCAGGAGCAGAGGTCTCAAGTGGAGTCATAGATGTA	ENST00000397910.4	-	1	1505_1553	c.1302_1350delTACATCTATGACTCCACTTGAGACCTCTGCTCCTGGAGAAGAGTCCGAA	c.(1300-1350)aatacatctatgactccacttgagacctctgctcctggagaagagtccgaafs	p.NTSMTPLETSAPGEESE434fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	434	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.T435K(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGCAGTCATTTCGGACTCTTCTCCAGGAGCAGAGGTCTCAAGTGGAGTCATAGATGTATTCAAAGTTC	0.486																																						ENST00000397910.4		NA																	2	Substitution - Missense(2)	p.T435K(2)	lung(2)	NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(1300-1350)aatacatctatgactccacttgagacctctgctcctggagaagagtccgaafs		mucin 16, cell surface associated																																				SO:0001589	frameshift_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9090465_9090513delTTCGGACTCTTCTCCAGGAGCAGAGGTCTCAAGTGGAGTCATAGATGTA	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.1302_1350delTACATCTATGACTCCACTTGAGACCTCTGCTCCTGGAGAAGAGTCCGAA	19.37:g.9090465_9090513delTTCGGACTCTTCTCCAGGAGCAGAGGTCTCAAGTGGAGTCATAGATGTA	ENSP00000381008:p.Asn434fs	False	False		Somatic	1					p.NTSMTPLETSAPGEESE434fs	NM_024690.2	NP_078966.2	WXS	Illumina HiSeq	Phase_I	Q8WXI7	MUC16_HUMAN			1	1505_1553	-			434			Thr-rich.		Q6ZQW5|Q96RK2	Frame_Shift_Del	DEL	ENST00000397910.4	37	c.1302_1350delTACATCTATGACTCCACTTGAGACCTCTGCTCCTGGAGAAGAGTCCGAA	CCDS54212.1																																																																																				0.486	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	0	NM_024690		19:9090465
PHF21B	112885	broad.mit.edu	37	22	45309867	45309915	+	Frame_Shift_Del	DEL	AGGGGACAGTGATGGGGAGGGAGGGGTGAGGGGAAGAGAGGAGGGGTGG	AGGGGACAGTGATGGGGAGGGAGGGGTGAGGGGAAGAGAGGAGGGGTGG	-	rs151004825|rs199896713|rs370911252|rs141049002	byFrequency	TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	AGGGGACAGTGATGGGGAGGGAGGGGTGAGGGGAAGAGAGGAGGGGTGG	AGGGGACAGTGATGGGGAGGGAGGGGTGAGGGGAAGAGAGGAGGGGTGG	-	-	AGGGGACAGTGATGGGGAGGGAGGGGTGAGGGGAAGAGAGGAGGGGTGG	AGGGGACAGTGATGGGGAGGGAGGGGTGAGGGGAAGAGAGGAGGGGTGG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr22:45309867_45309915delAGGGGACAGTGATGGGGAGGGAGGGGTGAGGGGAAGAGAGGAGGGGTGG	ENST00000313237.5	-	5	768_816	c.618_666delCCACCCCTCCTCTCTTCCCCTCACCCCTCCCTCCCCATCACTGTCCCCT	c.(616-666)ctccacccctcctctcttcccctcacccctccctccccatcactgtcccctfs	p.LHPSSLPLTPPSPSLSP206fs	PHF21B_ENST00000404079.2_Intron|PHF21B_ENST00000447824.3_Intron|PHF21B_ENST00000403565.1_Intron|PHF21B_ENST00000396103.3_Intron	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	206							zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		ggaggggtgaaggggacagtgatggggagggaggggtgaggggaagagaggaggggtggaggggacagt	0.647																																						ENST00000313237.5		NA																	0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25						c.(616-666)ctccacccctcctctcttcccctcacccctccctccccatcactgtcccctfs		PHD finger protein 21B																																				SO:0001589	frameshift_variant	112885						zinc ion binding	g.chr22:45309867_45309915delAGGGGACAGTGATGGGGAGGGAGGGGTGAGGGGAAGAGAGGAGGGGTGG	AK091480	CCDS14061.1, CCDS56234.1, CCDS63504.1	22q13.31	2013-01-28			ENSG00000056487	ENSG00000056487		"""Zinc fingers, PHD-type"""	25161	protein-coding gene	gene with protein product			"""PHD finger protein 4"""	PHF4		12477932	Standard	NM_138415		Approved	BHC80L, FLJ34161	uc011aql.2	Q96EK2	OTTHUMG00000151199	ENST00000313237.5:c.618_666delCCACCCCTCCTCTCTTCCCCTCACCCCTCCCTCCCCATCACTGTCCCCT	22.37:g.45309867_45309915delAGGGGACAGTGATGGGGAGGGAGGGGTGAGGGGAAGAGAGGAGGGGTGG	ENSP00000324403:p.Leu206fs	True	False		Somatic	1				PHF21B_ENST00000403565.1_Intron|PHF21B_ENST00000404079.2_Intron|PHF21B_ENST00000447824.3_Intron|PHF21B_ENST00000396103.3_Intron	p.LHPSSLPLTPPSPSLSP206fs	NM_138415.4	NP_612424.1	WXS	Illumina HiSeq	Phase_I	Q96EK2	PF21B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)	5	768_816	-		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)	206					B0QYW3|B0QYW4|B3KRU4|B7Z4F8|Q5TFL2|Q6ICC0	Frame_Shift_Del	DEL	ENST00000313237.5	37	c.618_666delCCACCCCTCCTCTCTTCCCCTCACCCCTCCCTCCCCATCACTGTCCCCT	CCDS14061.1																																																																																				0.647	PHF21B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321731.2	0	NM_138415		22:45309867
FER1L5	90342	broad.mit.edu	37	2	97365699	97365721	+	RNA	DEL	GCCCCCAAGCTACCTCCTAGAAC	GCCCCCAAGCTACCTCCTAGAAC	-			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	GCCCCCAAGCTACCTCCTAGAAC	GCCCCCAAGCTACCTCCTAGAAC	-	-	GCCCCCAAGCTACCTCCTAGAAC	GCCCCCAAGCTACCTCCTAGAAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr2:97365699_97365721delGCCCCCAAGCTACCTCCTAGAAC	ENST00000457909.1	+	0	4315_4337							A0AVI2	FR1L5_HUMAN	fer-1-like family member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						GGGATCAGATGCCCCCAAGCTACCTCCTAGAACGCTATGCCAA	0.529																																						ENST00000457909.1		NA																	0				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38								fer-1-like 5 (C. elegans)																																						90342					integral to membrane		g.chr2:97365699_97365721delGCCCCCAAGCTACCTCCTAGAAC	BC126368		2q11.2	2014-06-27	2014-06-27		ENSG00000249715	ENSG00000249715			19044	protein-coding gene	gene with protein product			"""fer-1-like 5 (C. elegans)"""				Standard	XM_006712826		Approved	DKFZp434I0121	uc010fia.3	A0AVI2	OTTHUMG00000154929		2.37:g.97365699_97365721delGCCCCCAAGCTACCTCCTAGAAC		False	False		Somatic	1								WXS	Illumina HiSeq	Phase_I	A0AVI2	FR1L5_HUMAN			0	4315_4337	+			NA					Q17RH2|Q6ZU24	RNA	DEL	ENST00000457909.1	37																																																																																						0.529	FER1L5-001	KNOWN	basic|exp_conf	retained_intron	pseudogene	OTTHUMT00000339030.1	0	NM_001077400		2:97365699
NBPF3	84224	broad.mit.edu	37	1	21798122	21798123	+	In_Frame_Ins	INS	-	-	GAT			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr1:21798122_21798123insGAT	ENST00000318249.5	+	5	857_858	c.507_508insGAT	c.(508-510)cag>GATcag	p.169_170insD	NBPF3_ENST00000318220.6_In_Frame_Ins_p.113_114insD|NBPF3_ENST00000342104.5_In_Frame_Ins_p.169_170insD|NBPF3_ENST00000454000.2_In_Frame_Ins_p.99_100insD	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	169						cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GGGAGAAGTTACAGGAAGGGAG	0.52																																						ENST00000318220.6		NA																	0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20						c.(340-342)cag>GATcag		neuroblastoma breakpoint family, member 3																																				SO:0001652	inframe_insertion	84224					cytoplasm		g.chr1:21798122_21798123insGAT	BC024011	CCDS216.1, CCDS57976.1, CCDS57977.1	1p36.12	2013-01-17			ENSG00000142794	ENSG00000142794		"""neuroblastoma breakpoint family"""	25076	protein-coding gene	gene with protein product		612992				11230166, 16079250	Standard	NM_032264		Approved	AE2	uc001ber.4	Q9H094	OTTHUMG00000002944	Exception_encountered	1.37:g.21798122_21798123insGAT	ENSP00000316782:p.Leu169_Gln170insAsp	False	False		Somatic	0				NBPF3_ENST00000454000.2_In_Frame_Ins_p.99_100insD|NBPF3_ENST00000342104.5_In_Frame_Ins_p.169_170insD|NBPF3_ENST00000318249.5_In_Frame_Ins_p.169_170insD	p.113_114insD			WXS	Illumina HiSeq	Phase_I	Q9H094	NBPF3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	8	1387_1388	+		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)	169					A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	In_Frame_Ins	INS	ENST00000318249.5	37	c.339_340insGAT	CCDS216.1																																																																																				0.520	NBPF3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		0	NM_032264		1:21798122
C1QB	713	broad.mit.edu	37	1	22987385	22987438	+	In_Frame_Del	DEL	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	rs544508692|rs148813212		TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	-	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	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
SLC6A3	6531	broad.mit.edu	37	5	1432653	1432653	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr5:1432653delA	ENST00000270349.9	-	4	706	c.579delT	c.(577-579)catfs	p.H193fs	SLC6A3_ENST00000453492.2_Frame_Shift_Del_p.H193fs	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	193					adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	AGTCACCAGGATGGGCATCCG	0.597																																						ENST00000270349.9		NA																	0				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38						c.(577-579)catfs		solute carrier family 6 (neurotransmitter transporter), member 3	Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)						121.0	106.0	111.0					5																	1432653		2203	4300	6503	SO:0001589	frameshift_variant	6531				cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body		g.chr5:1432653delA		CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"""Solute carriers"""	11049	protein-coding gene	gene with protein product	"""dopamine transporter"""	126455	"""solute carrier family 6 (neurotransmitter transporter, dopamine), member 3"", ""dopamine transporter 1"""	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.579delT	5.37:g.1432653delA	ENSP00000270349:p.His193fs	False	False		Somatic	1				SLC6A3_ENST00000453492.2_Frame_Shift_Del_p.H193fs	p.H193fs	NM_001044.4	NP_001035.1	WXS	Illumina HiSeq	Phase_I	Q01959	SC6A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		4	706	-			193					A2RUN4|Q14996	Frame_Shift_Del	DEL	ENST00000270349.9	37	c.579delT	CCDS3863.1																																																																																				0.597	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253650.3	0	NM_001044		5:1432653
JMY	133746	broad.mit.edu	37	5	78610444	78610479	+	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	rs200621350|rs201864465		TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	-	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	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
SESN1	27244	broad.mit.edu	37	6	109309803	109309828	+	Frame_Shift_Del	DEL	TTCAGGAGTGCAAACAACAGTTTTGA	TTCAGGAGTGCAAACAACAGTTTTGA	-	rs551629218		TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	TTCAGGAGTGCAAACAACAGTTTTGA	TTCAGGAGTGCAAACAACAGTTTTGA	-	-	TTCAGGAGTGCAAACAACAGTTTTGA	TTCAGGAGTGCAAACAACAGTTTTGA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr6:109309803_109309828delTTCAGGAGTGCAAACAACAGTTTTGA	ENST00000356644.7	-	9	1404_1429	c.1310_1335delTCAAAACTGTTGTTTGCACTCCTGAA	c.(1309-1335)atcaaaactgttgtttgcactcctgaafs	p.IKTVVCTPE437fs	SESN1_ENST00000302071.2_Frame_Shift_Del_p.IKTVVCTPE371fs|SESN1_ENST00000436639.2_Frame_Shift_Del_p.IKTVVCTPE496fs	NM_001199933.1	NP_001186862.1	Q9Y6P5	SESN1_HUMAN	sestrin 1	437					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|negative regulation of cell proliferation (GO:0008285)|regulation of protein kinase B signaling (GO:0051896)|regulation of response to reactive oxygen species (GO:1901031)	nucleus (GO:0005634)		p.E504Q(1)		cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	10		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)		Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117)		TGGTAACCTTTTCAGGAGTGCAAACAACAGTTTTGATATAAACTTT	0.341																																						ENST00000436639.2		NA																	1	Substitution - Missense(1)	p.E504Q(1)	urinary_tract(1)	cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	10						c.(1486-1512)atcaaaactgttgtttgcactcctgaafs		sestrin 1																																				SO:0001589	frameshift_variant	27244				cell cycle arrest|negative regulation of cell proliferation|response to DNA damage stimulus	nucleus		g.chr6:109309803_109309828delTTCAGGAGTGCAAACAACAGTTTTGA	AF033120	CCDS5070.1, CCDS56444.1, CCDS56445.1	6q21	2008-10-23			ENSG00000080546	ENSG00000080546			21595	protein-coding gene	gene with protein product		606103				9926927, 7938006	Standard	NM_014454		Approved	SEST1, PA26	uc003psu.3	Q9Y6P5	OTTHUMG00000015338	ENST00000356644.7:c.1310_1335delTCAAAACTGTTGTTTGCACTCCTGAA	6.37:g.109309803_109309828delTTCAGGAGTGCAAACAACAGTTTTGA	ENSP00000349061:p.Ile437fs	True	False		Somatic	1				SESN1_ENST00000302071.2_Frame_Shift_Del_p.IKTVVCTPE371fs|SESN1_ENST00000356644.7_Frame_Shift_Del_p.IKTVVCTPE437fs	p.IKTVVCTPE496fs	NM_014454.2	NP_055269.1	WXS	Illumina HiSeq	Phase_I	Q9Y6P5	SESN1_HUMAN		Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117)	9	2232_2257	-		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)	437					Q2M2B7|Q5T316|Q9NV00|Q9UPD5|Q9Y6P6	Frame_Shift_Del	DEL	ENST00000356644.7	37	c.1487_1512delTCAAAACTGTTGTTTGCACTCCTGAA	CCDS56445.1																																																																																				0.341	SESN1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041738.4	0	NM_014454		6:109309803
ZNF117	51351	broad.mit.edu	37	7	64439374	64439457	+	In_Frame_Del	DEL	GGTTTCTCTTCAGTATGAATTCTCTTATGTCTAATAAGGTGTGAGGTCTGGTTAAAGGCTTTGCCACATTCTTTACATTTGTAA	GGTTTCTCTTCAGTATGAATTCTCTTATGTCTAATAAGGTGTGAGGTCTGGTTAAAGGCTTTGCCACATTCTTTACATTTGTAA	-	rs368230173|rs145373826	byFrequency	TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	GGTTTCTCTTCAGTATGAATTCTCTTATGTCTAATAAGGTGTGAGGTCTGGTTAAAGGCTTTGCCACATTCTTTACATTTGTAA	GGTTTCTCTTCAGTATGAATTCTCTTATGTCTAATAAGGTGTGAGGTCTGGTTAAAGGCTTTGCCACATTCTTTACATTTGTAA	-	-	GGTTTCTCTTCAGTATGAATTCTCTTATGTCTAATAAGGTGTGAGGTCTGGTTAAAGGCTTTGCCACATTCTTTACATTTGTAA	GGTTTCTCTTCAGTATGAATTCTCTTATGTCTAATAAGGTGTGAGGTCTGGTTAAAGGCTTTGCCACATTCTTTACATTTGTAA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr7:64439374_64439457delGGTTTCTCTTCAGTATGAATTCTCTTATGTCTAATAAGGTGTGAGGTCTGGTTAAAGGCTTTGCCACATTCTTTACATTTGTAA	ENST00000282869.6	-	4	1776_1859	c.492_575delTTACAAATGTAAAGAATGTGGCAAAGCCTTTAACCAGACCTCACACCTTATTAGACATAAGAGAATTCATACTGAAGAGAAACC	c.(490-576)ccttacaaatgtaaagaatgtggcaaagcctttaaccagacctcacaccttattagacataagagaattcatactgaagagaaaccc>ccc	p.164_192PYKCKECGKAFNQTSHLIRHKRIHTEEKP>P		NM_015852.3	NP_056936.2	Q03924	ZN117_HUMAN	zinc finger protein 117	164					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R185I(2)|p.H183L(1)		breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1)	22		Lung NSC(55;0.0295)|all_lung(88;0.0691)				ACATTTGTAGGGTTTCTCTTCAGTATGAATTCTCTTATGTCTAATAAGGTGTGAGGTCTGGTTAAAGGCTTTGCCACATTCTTTACATTTGTAAGGTTTTTCTC	0.359																																						ENST00000282869.5		NA																	3	Substitution - Missense(3)	p.R185I(2)|p.H183L(1)	large_intestine(2)|lung(1)	breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1)	22						c.(490-576)ccttacaaatgtaaagaatgtggcaaagcctttaaccagacctcacaccttattagacataagagaattcatactgaagagaaaccc>ccc		zinc finger protein 117																																				SO:0001651	inframe_deletion	51351					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:64439374_64439457delGGTTTCTCTTCAGTATGAATTCTCTTATGTCTAATAAGGTGTGAGGTCTGGTTAAAGGCTTTGCCACATTCTTTACATTTGTAA	M27879	CCDS43593.1	7q11.2	2013-01-08	2006-06-12		ENSG00000152926	ENSG00000152926		"""Zinc fingers, C2H2-type"""	12897	protein-coding gene	gene with protein product		194624	"""zinc finger protein 117 (HPF9)"""			1427907	Standard	NM_015852		Approved	HPF9, H-plk	uc003ttr.2	Q03924	OTTHUMG00000156631	ENST00000282869.6:c.492_575delTTACAAATGTAAAGAATGTGGCAAAGCCTTTAACCAGACCTCACACCTTATTAGACATAAGAGAATTCATACTGAAGAGAAACC	7.37:g.64439374_64439457delGGTTTCTCTTCAGTATGAATTCTCTTATGTCTAATAAGGTGTGAGGTCTGGTTAAAGGCTTTGCCACATTCTTTACATTTGTAA	ENSP00000282869:p.Pro164_Lys191del	False	False		Somatic	1					p.164_192PYKCKECGKAFNQTSHLIRHKRIHTEEKP>P	NM_015852.3	NP_056936.2	WXS	Illumina HiSeq	Phase_I	Q03924	ZN117_HUMAN			4	1776_1859	-		Lung NSC(55;0.0295)|all_lung(88;0.0691)	164					Q02313|Q7Z7Q7	In_Frame_Del	DEL	ENST00000282869.6	37	c.492_575delTTACAAATGTAAAGAATGTGGCAAAGCCTTTAACCAGACCTCACACCTTATTAGACATAAGAGAATTCATACTGAAGAGAAACC	CCDS43593.1																																																																																				0.359	ZNF117-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344863.3	0	NM_024498		7:64439374
SLC26A3	1811	broad.mit.edu	37	7	107432381	107432382	+	Frame_Shift_Ins	INS	-	-	CACATTGTTTTTTCCTTATG			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr7:107432381_107432382insCACATTGTTTTTTCCTTATG	ENST00000340010.5	-	4	459_460	c.275_276insCATAAGGAAAAAACAATGTG	c.(274-276)ttafs	p.L92fs	SLC26A3_ENST00000422236.2_Frame_Shift_Ins_p.L57fs	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	92					anion transport (GO:0006820)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|membrane hyperpolarization (GO:0060081)|regulation of RNA biosynthetic process (GO:2001141)|regulation of transcription, DNA-templated (GO:0006355)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transporter activity (GO:0005215)	p.L92S(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						GAGCAAATGCTAAACCTGTAAA	0.421																																						ENST00000340010.5		NA																	1	Substitution - Missense(1)	p.L92S(1)	lung(1)	breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						c.(274-276)ttafs		solute carrier family 26 (anion exchanger), member 3																																				SO:0001589	frameshift_variant	1811				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr7:107432381_107432382insCACATTGTTTTTTCCTTATG	L02785	CCDS5748.1	7q31	2014-09-17	2013-07-18		ENSG00000091138	ENSG00000091138		"""Solute carriers"""	3018	protein-coding gene	gene with protein product		126650	"""congenital chloride diarrhea"", ""solute carrier family 26, member 3"""	DRA, CLD		8020951, 11087667	Standard	NM_000111		Approved		uc003ver.2	P40879	OTTHUMG00000154812	ENST00000340010.5:c.275_276insCATAAGGAAAAAACAATGTG	7.37:g.107432381_107432382insCACATTGTTTTTTCCTTATG	ENSP00000345873:p.Leu92fs	True	False		Somatic	0				SLC26A3_ENST00000422236.2_Frame_Shift_Ins_p.L57fs	p.L92fs	NM_000111.2	NP_000102.1	WXS	Illumina HiSeq	Phase_I	P40879	S26A3_HUMAN			4	459_460	-			92						Frame_Shift_Ins	INS	ENST00000340010.5	37	c.275_276insCATAAGGAAAAAACAATGTG	CCDS5748.1																																																																																				0.421	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337190.1	0	NM_000111		7:107432381
AQP7	364	broad.mit.edu	37	9	33395132	33395132	+	Frame_Shift_Del	DEL	G	G	-			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr9:33395132delG	ENST00000539936.1	-	3	326	c.88delC	c.(88-90)cagfs	p.Q30fs	AQP7_ENST00000377425.4_Intron|AQP7_ENST00000541274.1_5'UTR|AQP7_ENST00000537089.1_5'UTR			O14520	AQP7_HUMAN	aquaporin 7	30					excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		ATCTTCCTCTGCAGTATTTCC	0.572																																						ENST00000539936.1		NA																	0				NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17						c.(88-90)cagfs		aquaporin 7							106.0	72.0	83.0					9																	33395132		2203	4300	6503	SO:0001589	frameshift_variant	364				excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity	g.chr9:33395132delG	AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"""Ion channels / Aquaporins"""	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000539936.1:c.88delC	9.37:g.33395132delG	ENSP00000439534:p.Gln30fs	False	False		Somatic	1				AQP7_ENST00000377425.4_Intron|AQP7_ENST00000541274.1_5'UTR|AQP7_ENST00000537089.1_5'UTR	p.Q30fs			WXS	Illumina HiSeq	Phase_I	O14520	AQP7_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)	3	326	-			30					Q08E94|Q5T5L9|Q8NHM3	Frame_Shift_Del	DEL	ENST00000539936.1	37	c.88delC																																																																																					0.572	AQP7-203	KNOWN	basic	protein_coding	protein_coding		0	NM_001170		9:33395132
FCGBP	8857	broad.mit.edu	37	19	40424379	40424379	+	Silent	SNP	G	G	A	rs201855763		TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr19:40424379G>A	ENST00000221347.6	-	4	1831	c.1824C>T	c.(1822-1824)tgC>tgT	p.C608C		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	608	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CACACAGCCCGCACACCTGGT	0.617																																						ENST00000221347.6		NA																	0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(1822-1824)tgC>tgT		Fc fragment of IgG binding protein		G		0,4406		0,0,2203	81.0	82.0	82.0		1824	-0.7	1.0	19		82	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	FCGBP	NM_003890.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		608/5406	40424379	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8857					extracellular region	protein binding	g.chr19:40424379G>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.1824C>T	19.37:g.40424379G>A		True	False		Somatic	0					p.C608C	NM_003890.2	NP_003881.2	WXS	Illumina HiSeq	Phase_I	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		4	1831	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		608			VWFD 1.		O95784	Silent	SNP	ENST00000221347.6	37	c.1824C>T	CCDS12546.1																																																																																				0.617	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	0	NM_003890		19:40424379
IZUMO1	284359	broad.mit.edu	37	19	49245529	49245529	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr19:49245529G>C	ENST00000332955.2	-	7	1084	c.537C>G	c.(535-537)atC>atG	p.I179M	RASIP1_ENST00000222145.4_5'Flank	NM_182575.2	NP_872381.2	Q8IYV9	IZUM1_HUMAN	izumo sperm-egg fusion 1	179	Ig-like C2-type.				cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	acrosomal membrane (GO:0002080)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	17		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		CACAGTCCAGGATCATGTCTT	0.478																																						ENST00000332955.2		NA																	0				endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(535-537)atC>atG		izumo sperm-egg fusion 1							178.0	162.0	167.0					19																	49245529		2203	4300	6503	SO:0001583	missense	284359				fusion of sperm to egg plasma membrane	integral to membrane		g.chr19:49245529G>C	BC034769	CCDS12732.1	19q13.33	2014-07-23			ENSG00000182264	ENSG00000182264		"""-"""	28539	protein-coding gene	gene with protein product	"""oocyte binding/fusion factor"""	609278				15759005, 18952059, 19658160, 22957301	Standard	NM_182575		Approved	IZUMO, MGC34799, OBF	uc002pkj.3	Q8IYV9	OTTHUMG00000183324	ENST00000332955.2:c.537C>G	19.37:g.49245529G>C	ENSP00000327786:p.Ile179Met	False	False		Somatic	0					p.I179M	NM_182575.2	NP_872381.2	WXS	Illumina HiSeq	Phase_I	Q8IYV9	IZUM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)	7	1084	-		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)	179			Ig-like C2-type.		Q6Q8P6|Q6Q8P7	Missense_Mutation	SNP	ENST00000332955.2	37	c.537C>G	CCDS12732.1	.	.	.	.	.	.	.	.	.	.	G	13.99	2.401774	0.42613	.	.	ENSG00000182264	ENST00000332955	D	0.84070	-1.8	4.67	2.5	0.30297	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.764345	0.11908	N	0.517951	T	0.77718	0.4172	N	0.24115	0.695	0.23519	N	0.997503	P	0.40794	0.729	P	0.48400	0.576	T	0.66586	-0.5886	10	0.54805	T	0.06	-19.8514	7.5894	0.28012	0.1976:0.0:0.8024:0.0	.	179	Q8IYV9	IZUM1_HUMAN	M	179	ENSP00000327786:I179M	ENSP00000327786:I179M	I	-	3	3	IZUMO1	53937341	0.907000	0.30839	0.774000	0.31636	0.682000	0.39822	0.508000	0.22692	0.697000	0.31718	0.561000	0.74099	ATC		0.478	IZUMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466189.1	0	NM_182575		19:49245529
RANBP2	5903	broad.mit.edu	37	2	109371498	109371498	+	Silent	SNP	G	G	A	rs373469365	byFrequency	TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	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
KCNA4	3739	broad.mit.edu	37	11	30032887	30032887	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr11:30032887G>A	ENST00000328224.6	-	2	2572	c.1339C>T	c.(1339-1341)Cgt>Tgt	p.R447C	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	447					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	CGGACCAGACGAATGATTCTG	0.587																																						ENST00000328224.6		NA																	0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(1339-1341)Cgt>Tgt		potassium voltage-gated channel, shaker-related subfamily, member 4							68.0	66.0	67.0					11																	30032887		2055	4222	6277	SO:0001583	missense	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30032887G>A	M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.1339C>T	11.37:g.30032887G>A	ENSP00000328511:p.Arg447Cys	False	False		Somatic	0					p.R447C	NM_002233.3	NP_002224.1	WXS	Illumina HiSeq	Phase_I	P22459	KCNA4_HUMAN			2	2572	-			447						Missense_Mutation	SNP	ENST00000328224.6	37	c.1339C>T	CCDS41629.1	.	.	.	.	.	.	.	.	.	.	G	19.02	3.745893	0.69418	.	.	ENSG00000182255	ENST00000328224	D	0.99259	-5.64	5.32	5.32	0.75619	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99799	0.9914	H	0.99897	4.91	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96415	0.9307	10	0.87932	D	0	.	19.003	0.92841	0.0:0.0:1.0:0.0	.	447	P22459	KCNA4_HUMAN	C	447	ENSP00000328511:R447C	ENSP00000328511:R447C	R	-	1	0	KCNA4	29989463	1.000000	0.71417	0.889000	0.34880	0.979000	0.70002	9.869000	0.99810	2.491000	0.84063	0.650000	0.86243	CGT		0.587	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	0	NM_002233		11:30032887
OR1S2	219958	broad.mit.edu	37	11	57970714	57970714	+	Silent	SNP	G	G	A			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr11:57970714G>A	ENST00000302592.6	-	1	939	c.940C>T	c.(940-942)Ctg>Ttg	p.L314L		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	314						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				AGCTTTCTCAGGGCACCTTTC	0.418																																						ENST00000302592.6		NA																	0				endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46						c.(940-942)Ctg>Ttg		olfactory receptor, family 1, subfamily S, member 2							135.0	137.0	136.0					11																	57970714		2201	4294	6495	SO:0001819	synonymous_variant	219958				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57970714G>A	BK004297	CCDS31545.1	11q12.1	2012-08-09			ENSG00000197887	ENSG00000197887		"""GPCR / Class A : Olfactory receptors"""	15141	protein-coding gene	gene with protein product							Standard	NM_001004459		Approved		uc010rkb.2	Q8NGQ3	OTTHUMG00000167541	ENST00000302592.6:c.940C>T	11.37:g.57970714G>A		True	False		Somatic	0					p.L314L	NM_001004459.1	NP_001004459.1	WXS	Illumina HiSeq	Phase_I	Q8NGQ3	OR1S2_HUMAN			1	939	-		Breast(21;0.0589)	314					Q6IFG5|Q96R85	Silent	SNP	ENST00000302592.6	37	c.940C>T	CCDS31545.1																																																																																				0.418	OR1S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394703.2	0	NM_001004459		11:57970714
ST6GALNAC5	81849	broad.mit.edu	37	1	77528872	77528872	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr1:77528872A>G	ENST00000477717.1	+	5	1227	c.992A>G	c.(991-993)gAg>gGg	p.E331G		NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	331					glycosphingolipid biosynthetic process (GO:0006688)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						AATCATCCTGAGAATAAACCT	0.433																																						ENST00000477717.1		NA																	0				endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						c.(991-993)gAg>gGg		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5							90.0	85.0	86.0					1																	77528872		2203	4300	6503	SO:0001583	missense	81849				protein glycosylation	integral to Golgi membrane	sialyltransferase activity	g.chr1:77528872A>G		CCDS673.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000117069	ENSG00000117069		"""Sialyltransferases"""	19342	protein-coding gene	gene with protein product		610134	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) E"""	SIAT7E		10521438, 10601645	Standard	NM_030965		Approved	MGC3184, ST6GalNAcV	uc001dhi.3	Q9BVH7	OTTHUMG00000009687	ENST00000477717.1:c.992A>G	1.37:g.77528872A>G	ENSP00000417583:p.Glu331Gly	False	False		Somatic	0					p.E331G	NM_030965.1	NP_112227.1	WXS	Illumina HiSeq	Phase_I	Q9BVH7	SIA7E_HUMAN			5	1227	+			331					B1AK82	Missense_Mutation	SNP	ENST00000477717.1	37	c.992A>G	CCDS673.1	.	.	.	.	.	.	.	.	.	.	A	12.07	1.826269	0.32329	.	.	ENSG00000117069	ENST00000477717;ENST00000438953	T	0.34667	1.35	5.93	5.93	0.95920	.	0.501717	0.22376	N	0.060873	T	0.14960	0.0361	L	0.36672	1.1	0.36892	D	0.889957	B	0.21606	0.058	B	0.23419	0.046	T	0.08146	-1.0736	10	0.23302	T	0.38	-11.5623	11.4604	0.50206	0.8657:0.0:0.0:0.1343	.	331	Q9BVH7	SIA7E_HUMAN	G	331;241	ENSP00000417583:E331G	ENSP00000406658:E241G	E	+	2	0	ST6GALNAC5	77301460	1.000000	0.71417	1.000000	0.80357	0.368000	0.29767	3.139000	0.50577	2.267000	0.75376	0.533000	0.62120	GAG		0.433	ST6GALNAC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026692.2	0	NM_030965		1:77528872
GRIN3A	116443	broad.mit.edu	37	9	104357018	104357018	+	Intron	SNP	G	G	A			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr9:104357018G>A	ENST00000361820.3	-	7	3367				PPP3R2_ENST00000374806.1_Silent_p.F65F	NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A						calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	CGTCGGTGTCGAAGACGTCGA	0.577																																						ENST00000374806.1		NA																	0				breast(1)|endometrium(2)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22						c.(193-195)ttC>ttT		protein phosphatase 3, regulatory subunit B, beta	Cyclosporine(DB00091)						82.0	79.0	80.0					9																	104357018		2203	4300	6503	SO:0001627	intron_variant	5535						calcium ion binding	g.chr9:104357018G>A		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.2767-15376C>T	9.37:g.104357018G>A		False	False		Somatic	0				GRIN3A_ENST00000361820.3_Intron	p.F65F	NM_147180.2	NP_671709.1	WXS	Illumina HiSeq	Phase_I	Q96LZ3	CANB2_HUMAN			1	265	-		Acute lymphoblastic leukemia(62;0.0527)	62			EF-hand 2.		B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Silent	SNP	ENST00000361820.3	37	c.195C>T	CCDS6758.1																																																																																				0.577	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1	0			9:104357018
KMT2A	4297	broad.mit.edu	37	11	118375293	118375293	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr11:118375293C>A	ENST00000389506.5	+	27	8677	c.8677C>A	c.(8677-8679)Ctt>Att	p.L2893I	KMT2A_ENST00000534358.1_Missense_Mutation_p.L2896I|KMT2A_ENST00000354520.4_Missense_Mutation_p.L2855I			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	2893					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										AGACATGGGTCTTTTTGAAGT	0.453																																						ENST00000534358.1		NA																	0					NA						c.(8686-8688)Ctt>Att		lysine (K)-specific methyltransferase 2A							186.0	175.0	179.0					11																	118375293		2200	4295	6495	SO:0001583	missense	4297							g.chr11:118375293C>A	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.8677C>A	11.37:g.118375293C>A	ENSP00000374157:p.Leu2893Ile	True	False		Somatic	0				KMT2A_ENST00000389506.5_Missense_Mutation_p.L2893I|KMT2A_ENST00000354520.4_Missense_Mutation_p.L2855I	p.L2896I	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2	WXS	Illumina HiSeq	Phase_I					27	8709	+			NA					E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	c.8686C>A	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	C	12.98	2.098947	0.37048	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	D;D;D	0.88896	-2.44;-2.44;-2.39	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.91603	0.7347	L	0.48642	1.525	0.58432	D	0.999997	D;D	0.69078	0.997;0.997	D;D	0.78314	0.991;0.991	D	0.91272	0.5045	10	0.87932	D	0	.	10.7375	0.46133	0.0:0.8567:0.0:0.1433	.	2896;2893	E9PQG7;Q03164	.;MLL1_HUMAN	I	2896;2893;2855;1803	ENSP00000436786:L2896I;ENSP00000374157:L2893I;ENSP00000346516:L2855I	ENSP00000346516:L2855I	L	+	1	0	MLL	117880503	0.932000	0.31603	1.000000	0.80357	0.998000	0.95712	1.890000	0.39728	2.941000	0.99782	0.655000	0.94253	CTT		0.453	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	0	NM_005933		11:118375293
FBN1	2200	broad.mit.edu	37	15	48766481	48766481	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr15:48766481C>G	ENST00000316623.5	-	34	4636	c.4181G>C	c.(4180-4182)gGa>gCa	p.G1394A		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1394	EGF-like 23; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.		Missing (in MFS). {ECO:0000269|PubMed:14695540}.		extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		ACCTGTGTATCCTTCCTTGCA	0.473																																						ENST00000316623.5		NA																	0				NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139						c.(4180-4182)gGa>gCa		fibrillin 1							145.0	117.0	126.0					15																	48766481		2198	4296	6494	SO:0001583	missense	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48766481C>G	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.4181G>C	15.37:g.48766481C>G	ENSP00000325527:p.Gly1394Ala	True	False		Somatic	0					p.G1394A	NM_000138.4	NP_000129	WXS	Illumina HiSeq	Phase_I	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	34	4636	-		all_lung(180;0.00279)	1394		Missing (in MFS).	EGF-like 23; calcium-binding.		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.4181G>C	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	16.18	3.049649	0.55218	.	.	ENSG00000166147	ENST00000316623;ENST00000544030	D	0.92595	-3.07	5.29	5.29	0.74685	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.097281	0.64402	D	0.000001	D	0.97636	0.9225	H	0.96604	3.85	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.98621	1.0667	10	0.87932	D	0	.	18.7133	0.91666	0.0:1.0:0.0:0.0	.	1394	P35555	FBN1_HUMAN	A	1394;284	ENSP00000325527:G1394A	ENSP00000325527:G1394A	G	-	2	0	FBN1	46553773	1.000000	0.71417	0.972000	0.41901	0.983000	0.72400	7.597000	0.82733	2.753000	0.94483	0.650000	0.86243	GGA		0.473	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1	0			15:48766481
C10orf76	79591	broad.mit.edu	37	10	103792843	103792843	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr10:103792843G>C	ENST00000370033.4	-	4	365	c.246C>G	c.(244-246)ttC>ttG	p.F82L	C10orf76_ENST00000311122.5_Missense_Mutation_p.F82L	NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76	82						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		TGCAGTGTTGGAATAAGCAAT	0.453																																						ENST00000370033.4		NA																	0				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24						c.(244-246)ttC>ttG		chromosome 10 open reading frame 76							115.0	109.0	111.0					10																	103792843		1924	4139	6063	SO:0001583	missense	79591					integral to membrane		g.chr10:103792843G>C	AK023176	CCDS41563.1	10q24.32	2008-10-21			ENSG00000120029	ENSG00000120029			25788	protein-coding gene	gene with protein product						14702039	Standard	NM_024541		Approved	FLJ13114	uc009xwy.1	Q5T2E6	OTTHUMG00000018943	ENST00000370033.4:c.246C>G	10.37:g.103792843G>C	ENSP00000359050:p.Phe82Leu	False	False		Somatic	0				C10orf76_ENST00000311122.5_Missense_Mutation_p.F82L	p.F82L	NM_024541.2	NP_078817.2	WXS	Illumina HiSeq	Phase_I	Q5T2E6	CJ076_HUMAN		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)	4	365	-		Colorectal(252;0.123)	82					Q2TB87|Q9H8Z9	Missense_Mutation	SNP	ENST00000370033.4	37	c.246C>G	CCDS41563.1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.339757	0.60963	.	.	ENSG00000120029	ENST00000370033;ENST00000311122	T;T	0.61274	0.12;2.32	6.15	2.25	0.28309	.	0.000000	0.85682	D	0.000000	T	0.66386	0.2784	L	0.56124	1.755	0.80722	D	1	P;D	0.71674	0.528;0.998	B;D	0.76071	0.128;0.987	T	0.62765	-0.6785	10	0.45353	T	0.12	-17.9247	8.6237	0.33877	0.5511:0.0:0.4489:0.0	.	82;82	Q5T2E6;Q5T2E7	CJ076_HUMAN;.	L	82	ENSP00000359050:F82L;ENSP00000312408:F82L	ENSP00000312408:F82L	F	-	3	2	C10orf76	103782833	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	1.090000	0.30902	0.455000	0.26910	-0.366000	0.07423	TTC		0.453	C10orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050007.1	0	NM_024541		10:103792843
TBX19	9095	broad.mit.edu	37	1	168262442	168262442	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr1:168262442G>C	ENST00000367821.3	+	3	580	c.529G>C	c.(529-531)Gcc>Ccc	p.A177P		NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN	T-box 19	177					anatomical structure morphogenesis (GO:0009653)|cell fate commitment (GO:0045165)|pituitary gland development (GO:0021983)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					TGTTGGAAGTGCCCATCGAAT	0.463																																						ENST00000367821.3		NA																	0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34						c.(529-531)Gcc>Ccc		T-box 19							128.0	108.0	115.0					1																	168262442		2203	4300	6503	SO:0001583	missense	9095				anatomical structure morphogenesis	nucleus	DNA binding	g.chr1:168262442G>C	AJ010277	CCDS1272.1	1q23-q24	2008-02-05			ENSG00000143178	ENSG00000143178		"""T-boxes"""	11596	protein-coding gene	gene with protein product	"""TBS 19"""	604614				9888994	Standard	NM_005149		Approved	dj747L4.1, TPIT	uc001gfl.3	O60806	OTTHUMG00000034648	ENST00000367821.3:c.529G>C	1.37:g.168262442G>C	ENSP00000356795:p.Ala177Pro	True	False		Somatic	0					p.A177P	NM_005149.2	NP_005140.1	WXS	Illumina HiSeq	Phase_I	O60806	TBX19_HUMAN			3	580	+	all_hematologic(923;0.215)		177					Q52M53	Missense_Mutation	SNP	ENST00000367821.3	37	c.529G>C	CCDS1272.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.307|2.307	-0.358921|-0.358921	0.05138|0.05138	.|.	.|.	ENSG00000143178|ENSG00000143178	ENST00000367821;ENST00000367828|ENST00000431969	D|.	0.88124|.	-2.34|.	5.02|5.02	0.2|0.2	0.15181|0.15181	p53-like transcription factor, DNA-binding (1);|.	0.552786|.	0.18396|.	N|.	0.142516|.	T|T	0.02230|0.02230	0.0069|0.0069	N|N	0.02420|0.02420	-0.555|-0.555	.|.	.|.	.|.	B;B|.	0.10296|.	0.001;0.003|.	B;B|.	0.08055|.	0.002;0.003|.	T|T	0.40683|0.40683	-0.9550|-0.9550	9|4	0.27785|.	T|.	0.31|.	.|.	0.0479|0.0479	0.00011|0.00011	0.2718:0.1897:0.2341:0.3044|0.2718:0.1897:0.2341:0.3044	.|.	177;108|.	O60806;B3KRD9|.	TBX19_HUMAN;.|.	P|S	177;117|109	ENSP00000356795:A177P|.	ENSP00000356795:A177P|.	A|C	+|+	1|2	0|0	TBX19|TBX19	166529066|166529066	0.000000|0.000000	0.05858|0.05858	0.588000|0.588000	0.28705|0.28705	0.461000|0.461000	0.32589|0.32589	0.244000|0.244000	0.18124|0.18124	0.447000|0.447000	0.26695|0.26695	0.563000|0.563000	0.77884|0.77884	GCC|TGC		0.463	TBX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083825.1	0	NM_005149		1:168262442
RPL15	6138	broad.mit.edu	37	3	23959499	23959499	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr3:23959499G>C	ENST00000307839.5	+	2	788	c.149G>C	c.(148-150)cGa>cCa	p.R50P	RPL15_ENST00000435882.1_Missense_Mutation_p.R50P|NKIRAS1_ENST00000421515.2_Intron|RPL15_ENST00000456530.2_Missense_Mutation_p.R50P|RPL15_ENST00000413699.1_Missense_Mutation_p.R50P|RPL15_ENST00000354811.5_Missense_Mutation_p.R50P|NKIRAS1_ENST00000437230.1_5'Flank|RPL15_ENST00000415719.1_Missense_Mutation_p.R50P|NKIRAS1_ENST00000425478.2_5'Flank|NKIRAS1_ENST00000443659.2_5'Flank|NKIRAS1_ENST00000415901.2_5'Flank|NKIRAS1_ENST00000412028.1_5'Flank|NKIRAS1_ENST00000388759.3_5'Flank|NKIRAS1_ENST00000416026.2_5'Flank	NM_001253379.1|NM_001253380.1|NM_002948.3	NP_001240308.1|NP_001240309.1|NP_002939.2	P61313	RL15_HUMAN	ribosomal protein L15	50					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7						AAAGCGCGCCGACTGGGCTAC	0.557																																						ENST00000307839.5		NA																	0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7						c.(148-150)cGa>cCa		ribosomal protein L15							34.0	37.0	36.0					3																	23959499		2203	4300	6503	SO:0001583	missense	6138				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome	g.chr3:23959499G>C	AB007173	CCDS2640.1, CCDS58818.1	3p24.1	2011-04-06			ENSG00000174748	ENSG00000174748		"""L ribosomal proteins"""	10306	protein-coding gene	gene with protein product		604174				9582194	Standard	NM_002948		Approved	RPL10, RPLY10, RPYL10, EC45, L15	uc003ccp.3	P61313	OTTHUMG00000130485	ENST00000307839.5:c.149G>C	3.37:g.23959499G>C	ENSP00000309334:p.Arg50Pro	False	False		Somatic	0				RPL15_ENST00000354811.5_Missense_Mutation_p.R50P|RPL15_ENST00000456530.2_Missense_Mutation_p.R50P|RPL15_ENST00000415719.1_Missense_Mutation_p.R50P|RPL15_ENST00000413699.1_Missense_Mutation_p.R50P|NKIRAS1_ENST00000421515.2_Intron|RPL15_ENST00000435882.1_Missense_Mutation_p.R50P	p.R50P	NM_001253379.1|NM_001253380.1|NM_002948.3	NP_001240308.1|NP_001240309.1|NP_002939.2	WXS	Illumina HiSeq	Phase_I	P61313	RL15_HUMAN			2	788	+			50					P39030|P41051|Q5U0C0|Q642I1|Q6IPX6|Q8WYP2|Q96C44|Q9H2E5	Missense_Mutation	SNP	ENST00000307839.5	37	c.149G>C	CCDS2640.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.133108	0.77662	.	.	ENSG00000174748	ENST00000307839;ENST00000422218;ENST00000434031;ENST00000413699;ENST00000456530;ENST00000412097;ENST00000510788;ENST00000435882;ENST00000415719;ENST00000354811	.	.	.	5.77	5.77	0.91146	Ribosomal protein L15e, conserved site (1);Ribosomal protein L23/L15e (1);	0.000000	0.85682	U	0.000000	D	0.90068	0.6898	H	0.96720	3.87	0.80722	D	1	B;D;B;D	0.60160	0.013;0.987;0.092;0.965	B;D;B;D	0.71656	0.094;0.97;0.155;0.974	D	0.92718	0.6189	9	0.87932	D	0	.	20.0007	0.97408	0.0:0.0:1.0:0.0	.	50;50;50;50	B4DEN1;B4DLP4;Q642I1;P61313	.;.;.;RL15_HUMAN	P	50	.	ENSP00000309334:R50P	R	+	2	0	RPL15	23934503	1.000000	0.71417	0.995000	0.50966	0.515000	0.34225	7.956000	0.87863	2.726000	0.93360	0.650000	0.86243	CGA		0.557	RPL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252885.3	0	NM_002948		3:23959499
FNDC3B	64778	broad.mit.edu	37	3	172028627	172028627	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr3:172028627G>C	ENST00000336824.4	+	11	1309	c.1210G>C	c.(1210-1212)Gac>Cac	p.D404H	FNDC3B_ENST00000416957.1_Missense_Mutation_p.D404H|FNDC3B_ENST00000415807.2_Missense_Mutation_p.D404H	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	404	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		GGCACCAATTGACAACGGTTC	0.343																																						ENST00000336824.4		NA																	0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69						c.(1210-1212)Gac>Cac		fibronectin type III domain containing 3B							210.0	221.0	217.0					3																	172028627		2203	4300	6503	SO:0001583	missense	64778					endoplasmic reticulum|integral to membrane		g.chr3:172028627G>C	AF543840	CCDS3217.1	3q26.31	2013-11-06			ENSG00000075420	ENSG00000075420		"""Fibronectin type III domain containing"""	24670	protein-coding gene	gene with protein product		611909				15527760	Standard	NM_022763		Approved	FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421	uc003fhy.3	Q53EP0	OTTHUMG00000156761	ENST00000336824.4:c.1210G>C	3.37:g.172028627G>C	ENSP00000338523:p.Asp404His	False	False		Somatic	0				FNDC3B_ENST00000415807.2_Missense_Mutation_p.D404H|FNDC3B_ENST00000416957.1_Missense_Mutation_p.D404H	p.D404H	NM_001135095.1	NP_001128567.1	WXS	Illumina HiSeq	Phase_I	Q53EP0	FND3B_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)	11	1309	+	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		404			Fibronectin type-III 2.		B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Missense_Mutation	SNP	ENST00000336824.4	37	c.1210G>C	CCDS3217.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.754948	0.89843	.	.	ENSG00000075420	ENST00000415807;ENST00000336824;ENST00000416957	T;T;T	0.58940	0.3;0.3;0.3	5.9	5.9	0.94986	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.81950	0.4931	M	0.90483	3.12	0.80722	D	1	D;D	0.89917	1.0;0.993	D;D	0.91635	0.999;0.987	D	0.84606	0.0675	10	0.87932	D	0	-29.8321	19.8634	0.96793	0.0:0.0:1.0:0.0	.	404;404	Q53EP0-2;Q53EP0	.;FND3B_HUMAN	H	404	ENSP00000411242:D404H;ENSP00000338523:D404H;ENSP00000389094:D404H	ENSP00000338523:D404H	D	+	1	0	FNDC3B	173511321	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.709000	0.91379	2.800000	0.96347	0.591000	0.81541	GAC		0.343	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345618.2	0	NM_022763		3:172028627
DOCK2	1794	broad.mit.edu	37	5	169267840	169267840	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr5:169267840G>A	ENST00000256935.8	+	27	2863	c.2783G>A	c.(2782-2784)cGg>cAg	p.R928Q	DOCK2_ENST00000520908.1_Missense_Mutation_p.R420Q|DOCK2_ENST00000540750.1_5'UTR|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	928					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACCATGGGCCGGGATCACATT	0.453																																						ENST00000256935.8		NA																	0				NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160						c.(2782-2784)cGg>cAg		dedicator of cytokinesis 2							124.0	107.0	113.0					5																	169267840		2203	4300	6503	SO:0001583	missense	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169267840G>A	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.2783G>A	5.37:g.169267840G>A	ENSP00000256935:p.Arg928Gln	True	False		Somatic	0				DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_5'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.R420Q	p.R928Q	NM_004946.2	NP_004937.1	WXS	Illumina HiSeq	Phase_I	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		27	2863	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	928					Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	c.2783G>A	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.350030	0.82132	.	.	ENSG00000134516	ENST00000256935;ENST00000343291;ENST00000520908;ENST00000519628	T;T	0.68331	-0.32;-0.32	5.28	5.28	0.74379	.	0.120890	0.56097	D	0.000022	T	0.65481	0.2695	M	0.71036	2.16	0.80722	D	1	P;P	0.52061	0.95;0.67	B;B	0.40864	0.342;0.098	T	0.67597	-0.5630	10	0.30854	T	0.27	.	15.8081	0.78531	0.0:0.0:1.0:0.0	.	420;928	E7ERW7;Q92608	.;DOCK2_HUMAN	Q	928;309;420;132	ENSP00000256935:R928Q;ENSP00000429283:R420Q	ENSP00000256935:R928Q	R	+	2	0	DOCK2	169200418	1.000000	0.71417	0.998000	0.56505	0.726000	0.41606	6.268000	0.72552	2.460000	0.83146	0.585000	0.79938	CGG		0.453	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	0	NM_004946		5:169267840
RCOR1	23186	broad.mit.edu	37	14	103180896	103180896	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr14:103180896C>T	ENST00000570597.1	+	8	986	c.986C>T	c.(985-987)aCt>aTt	p.T329I	RCOR1_ENST00000262241.6_Missense_Mutation_p.T332I			Q9UKL0	RCOR1_HUMAN	REST corepressor 1	329	Interaction with KDM1A.				blood coagulation (GO:0007596)|histone H4 deacetylation (GO:0070933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						GCCAATGCCACTGCTGCTACC	0.413																																						ENST00000262241.6		NA																	0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						c.(994-996)aCt>aTt		REST corepressor 1							104.0	93.0	97.0					14																	103180896		2203	4300	6503	SO:0001583	missense	23186				blood coagulation|histone H4 deacetylation|interspecies interaction between organisms	transcriptional repressor complex	protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding	g.chr14:103180896C>T	AF155595	CCDS9974.1, CCDS9974.2	14q32.33	2004-04-16	2004-04-16	2004-04-16		ENSG00000089902			17441	protein-coding gene	gene with protein product		607675	"""REST corepressor"""	RCOR		10449787	Standard	NM_015156		Approved	COREST, KIAA0071	uc001ymb.4	Q9UKL0		ENST00000570597.1:c.986C>T	14.37:g.103180896C>T	ENSP00000459789:p.Thr329Ile	False	False		Somatic	0				RCOR1_ENST00000570597.1_Missense_Mutation_p.T329I	p.T332I	NM_015156.3	NP_055971.2	WXS	Illumina HiSeq	Phase_I	Q9UKL0	RCOR1_HUMAN			8	1221	+			329			Interaction with KDM1A.		Q15044|Q6P2I9|Q86VG5	Missense_Mutation	SNP	ENST00000570597.1	37	c.995C>T		.	.	.	.	.	.	.	.	.	.	C	17.53	3.412066	0.62511	.	.	ENSG00000089902	ENST00000262241	.	.	.	6.07	5.16	0.70880	.	0.206697	0.50627	D	0.000108	T	0.35998	0.0951	N	0.22421	0.69	0.51233	D	0.999914	P	0.40032	0.699	B	0.33620	0.167	T	0.26155	-1.0111	9	0.46703	T	0.11	-16.8936	12.052	0.53511	0.1363:0.7327:0.131:0.0	.	329	Q9UKL0	RCOR1_HUMAN	I	329	.	ENSP00000262241:T329I	T	+	2	0	RCOR1	102250649	0.999000	0.42202	0.981000	0.43875	0.985000	0.73830	4.443000	0.59994	1.516000	0.48900	0.655000	0.94253	ACT		0.413	RCOR1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		0	NM_015156		14:103180896
MYH15	22989	broad.mit.edu	37	3	108149680	108149680	+	Splice_Site	SNP	T	T	G			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr3:108149680T>G	ENST00000273353.3	-	27	3427	c.3371A>C	c.(3370-3372)cAg>cCg	p.Q1124P		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1124						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						ATTGATTACCTGAAGCTCTTT	0.368																																						ENST00000273353.3		NA																	0				NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						c.(3370-3372)cAg>cCg		myosin, heavy chain 15							97.0	89.0	92.0					3																	108149680		1830	4093	5923	SO:0001630	splice_region_variant	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108149680T>G	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.3372+1A>C	3.37:g.108149680T>G		False	False		Somatic	0					p.Q1124P	NM_014981.1	NP_055796.1	WXS	Illumina HiSeq	Phase_I	Q9Y2K3	MYH15_HUMAN			27	3427	-			1124						Splice_Site	SNP	ENST00000273353.3	37	c.3371A>C	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	T	13.03	2.116301	0.37339	.	.	ENSG00000144821	ENST00000273353	T	0.80214	-1.35	5.35	1.36	0.22044	Myosin tail (1);	.	.	.	.	D	0.88844	0.6547	M	0.89534	3.04	0.42303	D	0.992189	D	0.89917	1.0	D	0.97110	1.0	D	0.86321	0.1692	9	0.87932	D	0	.	5.6809	0.17776	0.2619:0.0733:0.0:0.6647	.	1124	Q9Y2K3	MYH15_HUMAN	P	1124	ENSP00000273353:Q1124P	ENSP00000273353:Q1124P	Q	-	2	0	MYH15	109632370	1.000000	0.71417	0.061000	0.19648	0.016000	0.09150	3.060000	0.49955	0.412000	0.25729	0.528000	0.53228	CAG		0.368	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	0	XM_036988	Missense_Mutation	3:108149680
PLEKHB1	58473	broad.mit.edu	37	11	73364058	73364058	+	Splice_Site	SNP	C	C	G	rs376023362		TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr11:73364058C>G	ENST00000354190.5	+	5	820	c.389C>G	c.(388-390)cCg>cGg	p.P130R	PLEKHB1_ENST00000398492.4_Splice_Site_p.P130R|PLEKHB1_ENST00000227214.6_Splice_Site_p.P111R|PLEKHB1_ENST00000535129.1_Splice_Site_p.P111R|PLEKHB1_ENST00000543085.1_Splice_Site_p.P60R|PLEKHB1_ENST00000398494.4_Splice_Site_p.P111R	NM_021200.2	NP_067023.1	Q9UF11	PKHB1_HUMAN	pleckstrin homology domain containing, family B (evectins) member 1	130					multicellular organismal development (GO:0007275)|phototransduction (GO:0007602)|regulation of cell differentiation (GO:0045595)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	7						AACTCCACCCCGGTGAGTCTC	0.582																																						ENST00000354190.5		NA																	0				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	7						c.(388-390)cCg>cGg		pleckstrin homology domain containing, family B (evectins) member 1							73.0	87.0	83.0					11																	73364058		1944	4134	6078	SO:0001630	splice_region_variant	58473				multicellular organismal development|phototransduction	cytoplasm|integral to membrane	signal transducer activity	g.chr11:73364058C>G	AF081583	CCDS44672.1, CCDS44673.1, CCDS44674.1, CCDS44675.1	11q13.5-q14.1	2013-01-10	2002-11-04	2002-11-08	ENSG00000021300	ENSG00000021300		"""Pleckstrin homology (PH) domain containing"""	19079	protein-coding gene	gene with protein product		607651	"""PH domain containing, retinal 1"""	PHRET1		10585447	Standard	NM_021200		Approved	PHR1, KPL1	uc001ouc.3	Q9UF11	OTTHUMG00000168030	ENST00000354190.5:c.390+1C>G	11.37:g.73364058C>G		True	False		Somatic	0				PLEKHB1_ENST00000227214.6_Splice_Site_p.P111R|PLEKHB1_ENST00000543085.1_Splice_Site_p.P60R|PLEKHB1_ENST00000398494.4_Splice_Site_p.P111R|PLEKHB1_ENST00000398492.4_Splice_Site_p.P130R|PLEKHB1_ENST00000535129.1_Splice_Site_p.P111R	p.P130R	NM_021200.2	NP_067023.1	WXS	Illumina HiSeq	Phase_I	Q9UF11	PKHB1_HUMAN			5	820	+			130					A8K0Q5|B2RBP1|B7Z716|Q9UBF5|Q9UI37|Q9UI44	Splice_Site	SNP	ENST00000354190.5	37	c.389C>G	CCDS44672.1	.	.	.	.	.	.	.	.	.	.	C	11.54	1.668309	0.29604	.	.	ENSG00000021300	ENST00000354190;ENST00000398492;ENST00000227214;ENST00000398494;ENST00000543085;ENST00000539157;ENST00000546251;ENST00000535582;ENST00000538227;ENST00000539549;ENST00000542185;ENST00000543524;ENST00000541597;ENST00000535129;ENST00000542389;ENST00000540431	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58;1.58;1.58;1.58;1.58;1.58;1.58;1.58;1.58;1.58	4.53	3.62	0.41486	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.176334	0.50627	D	0.000115	T	0.41236	0.1150	L	0.38175	1.15	0.39250	D	0.964026	D;D;D;P	0.89917	0.975;1.0;1.0;0.954	D;D;D;P	0.91635	0.943;0.999;0.999;0.819	T	0.35325	-0.9793	10	0.54805	T	0.06	-18.4952	8.962	0.35854	0.0:0.901:0.0:0.099	.	111;134;130;130	F5GXN2;Q59EU5;Q9UF11-2;Q9UF11	.;.;.;PKHB1_HUMAN	R	130;130;111;111;60;118;111;111;111;111;111;111;111;111;111;118	ENSP00000346127:P130R;ENSP00000381505:P130R;ENSP00000227214:P111R;ENSP00000381507:P111R;ENSP00000441224:P60R;ENSP00000445990:P118R;ENSP00000439714:P111R;ENSP00000438809:P111R;ENSP00000445807:P111R;ENSP00000444453:P111R;ENSP00000442136:P111R;ENSP00000442616:P111R;ENSP00000440102:P111R;ENSP00000441558:P118R	ENSP00000227214:P111R	P	+	2	0	PLEKHB1	73041706	1.000000	0.71417	1.000000	0.80357	0.016000	0.09150	1.837000	0.39201	1.517000	0.48917	-0.133000	0.14855	CCG		0.582	PLEKHB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397593.1	0		Missense_Mutation	11:73364058
PRUNE2	158471	broad.mit.edu	37	9	79318726	79318726	+	Silent	SNP	G	G	A			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr9:79318726G>A	ENST00000376718.3	-	9	7926	c.7803C>T	c.(7801-7803)gcC>gcT	p.A2601A	PRUNE2_ENST00000428286.1_Silent_p.A2242A	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2601					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CATTTAAGGAGGCTGGCTGAC	0.428																																						ENST00000428286.1		NA																	0				endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						c.(6724-6726)gcC>gcT		prune homolog 2 (Drosophila)							96.0	89.0	91.0					9																	79318726		1568	3582	5150	SO:0001819	synonymous_variant	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79318726G>A	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.7803C>T	9.37:g.79318726G>A		True	False		Somatic	0				PRUNE2_ENST00000376718.3_Silent_p.A2601A	p.A2242A			WXS	Illumina HiSeq	Phase_I	Q8WUY3	PRUN2_HUMAN			9	7926	-			2601					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Silent	SNP	ENST00000376718.3	37	c.6726C>T	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	G	2.478	-0.320244	0.05386	.	.	ENSG00000106772	ENST00000426088	.	.	.	5.61	-1.16	0.09678	.	.	.	.	.	T	0.18635	0.0447	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.23190	-1.0195	4	.	.	.	-2.112	0.8443	0.01157	0.2855:0.1178:0.3678:0.229	.	.	.	.	F	1923	.	.	L	-	1	0	PRUNE2	78508546	0.010000	0.17322	0.001000	0.08648	0.460000	0.32559	0.028000	0.13644	-0.216000	0.10048	-0.218000	0.12543	CTC		0.428	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	0	NM_138818		9:79318726
GALNT16	57452	broad.mit.edu	37	14	69791503	69791503	+	Nonsense_Mutation	SNP	A	A	T			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr14:69791503A>T	ENST00000337827.4	+	3	757	c.430A>T	c.(430-432)Aag>Tag	p.K144*	GALNT16_ENST00000448469.3_Nonsense_Mutation_p.K144*|GALNT16_ENST00000553669.1_Nonsense_Mutation_p.K144*	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2	Q8N428	GLT16_HUMAN	polypeptide N-acetylgalactosaminyltransferase 16	144	Catalytic subdomain A.				protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										GCGCACAGTGAAGAGGTAAGT	0.602																																						ENST00000337827.4		NA																	0					NA						c.(430-432)Aag>Tag		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16							103.0	76.0	85.0					14																	69791503		2203	4300	6503	SO:0001587	stop_gained	57452							g.chr14:69791503A>T	AB032956	CCDS32107.1	14q24.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000100626	ENSG00000100626	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23233	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 16"""	615132	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16"""	GALNTL1		10574461, 22186971	Standard	NM_020692		Approved	KIAA1130, GalNAc-T16	uc010aqu.2	Q8N428	OTTHUMG00000171231	ENST00000337827.4:c.430A>T	14.37:g.69791503A>T	ENSP00000336729:p.Lys144*	False	False		Somatic	0				GALNT16_ENST00000448469.3_Nonsense_Mutation_p.K144*|GALNT16_ENST00000553669.1_Nonsense_Mutation_p.K144*	p.K144*	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2	WXS	Illumina HiSeq	Phase_I					3	757	+			NA					Q4KMG3|Q58A55|Q9ULT9	Nonsense_Mutation	SNP	ENST00000337827.4	37	c.430A>T	CCDS32107.1	.	.	.	.	.	.	.	.	.	.	A	31	5.084142	0.94100	.	.	ENSG00000100626	ENST00000337827;ENST00000448469;ENST00000553669	.	.	.	5.93	5.93	0.95920	.	0.041945	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	16.3797	0.83452	1.0:0.0:0.0:0.0	.	.	.	.	X	144	.	ENSP00000336729:K144X	K	+	1	0	GALNTL1	68861256	1.000000	0.71417	1.000000	0.80357	0.569000	0.35902	8.962000	0.93254	2.271000	0.75665	0.533000	0.62120	AAG		0.602	GALNT16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412434.1	0	NM_001168368		14:69791503
DSG2	1829	broad.mit.edu	37	18	29116237	29116237	+	Missense_Mutation	SNP	T	T	G			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr18:29116237T>G	ENST00000261590.8	+	11	1705	c.1496T>G	c.(1495-1497)cTg>cGg	p.L499R		NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	499	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|regulation of heart rate by cardiac conduction (GO:0086091)|response to progesterone (GO:0032570)|ventricular cardiac muscle cell action potential (GO:0086005)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			TGTCCCACACTGATAGAGCCT	0.428																																						ENST00000261590.8		NA																	0				breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49						c.(1495-1497)cTg>cGg		desmoglein 2							96.0	88.0	91.0					18																	29116237		1956	4164	6120	SO:0001583	missense	1829				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:29116237T>G	Z26317	CCDS42423.1	18q12.1	2014-09-17				ENSG00000046604		"""Cadherins / Major cadherins"""	3049	protein-coding gene	gene with protein product		125671				1612610	Standard	NM_001943		Approved	CDHF5	uc002kwu.4	Q14126		ENST00000261590.8:c.1496T>G	18.37:g.29116237T>G	ENSP00000261590:p.Leu499Arg	False	False		Somatic	0					p.L499R	NM_001943.3	NP_001934.2	WXS	Illumina HiSeq	Phase_I	Q14126	DSG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0068)		11	1705	+			499			Cadherin 4.		Q4KKU6	Missense_Mutation	SNP	ENST00000261590.8	37	c.1496T>G	CCDS42423.1	.	.	.	.	.	.	.	.	.	.	T	15.21	2.764658	0.49574	.	.	ENSG00000046604	ENST00000261590	T	0.63913	-0.07	5.89	5.89	0.94794	Cadherin (2);Cadherin-like (1);	0.143841	0.32218	N	0.006411	D	0.82513	0.5053	M	0.88181	2.935	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.85990	0.1488	10	0.87932	D	0	.	16.3127	0.82898	0.0:0.0:0.0:1.0	.	499	Q14126	DSG2_HUMAN	R	499	ENSP00000261590:L499R	ENSP00000261590:L499R	L	+	2	0	DSG2	27370235	1.000000	0.71417	0.757000	0.31301	0.015000	0.08874	6.161000	0.71868	2.246000	0.74042	0.533000	0.62120	CTG		0.428	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447506.1	0	NM_001943		18:29116237
STARD3	10948	broad.mit.edu	37	17	37817295	37817295	+	Missense_Mutation	SNP	G	G	A	rs376946622		TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr17:37817295G>A	ENST00000336308.5	+	13	1314	c.1096G>A	c.(1096-1098)Gcc>Acc	p.A366T	STARD3_ENST00000580611.1_Missense_Mutation_p.A340T|STARD3_ENST00000544210.2_Missense_Mutation_p.A366T|STARD3_ENST00000394250.4_Missense_Mutation_p.A348T	NM_001165937.1|NM_006804.3	NP_001159409.1|NP_006795.3	Q14849	STAR3_HUMAN	StAR-related lipid transfer (START) domain containing 3	366	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|mitochondrial transport (GO:0006839)|progesterone biosynthetic process (GO:0006701)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)	cholesterol binding (GO:0015485)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1)	14	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			ATCAGGGATCGCCACCTCACA	0.617																																						ENST00000336308.5		NA																	0				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1)	14						c.(1096-1098)Gcc>Acc		StAR-related lipid transfer (START) domain containing 3		G	THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	84.0	65.0	72.0		1096,1042,1096	4.1	0.9	17		72	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	STARD3	NM_001165937.1,NM_001165938.1,NM_006804.3	58,58,58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	366/446,348/428,366/446	37817295	1,13005	2203	4300	6503	SO:0001583	missense	0				cholesterol metabolic process|mitochondrial transport|steroid biosynthetic process	integral to membrane|late endosome membrane	cholesterol binding|cholesterol transporter activity	g.chr17:37817295G>A		CCDS11341.1, CCDS54117.1, CCDS54118.1	17q11-q12	2011-09-12	2007-08-16		ENSG00000131748	ENSG00000131748		"""StAR-related lipid transfer (START) domain containing"""	17579	protein-coding gene	gene with protein product		607048	"""START domain containing 3"""				Standard	NM_006804		Approved	es64, MLN64	uc002hsd.3	Q14849	OTTHUMG00000133213	ENST00000336308.5:c.1096G>A	17.37:g.37817295G>A	ENSP00000337446:p.Ala366Thr	False	False		Somatic	0				STARD3_ENST00000394250.4_Missense_Mutation_p.A348T|STARD3_ENST00000580611.1_Missense_Mutation_p.A340T|STARD3_ENST00000544210.2_Missense_Mutation_p.A366T	p.A366T	NM_001165937.1|NM_006804.3	NP_001159409.1|NP_006795.3	WXS	Illumina HiSeq	Phase_I	Q14849	STAR3_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		13	1314	+	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		366			START.		A8MXA4|B4DUY1|F5H0G2|Q53Y53|Q96HM9	Missense_Mutation	SNP	ENST00000336308.5	37	c.1096G>A	CCDS11341.1	.	.	.	.	.	.	.	.	.	.	G	12.57	1.977639	0.34848	0.0	1.16E-4	ENSG00000131748	ENST00000336308;ENST00000544210;ENST00000394250	T;T;T	0.79749	-1.3;-1.3;-1.3	5.02	4.05	0.47172	Lipid-binding START (3);START-like domain (1);	0.224065	0.45126	N	0.000388	T	0.73048	0.3537	L	0.61387	1.9	0.53005	D	0.999962	B;B;B;B;B	0.32918	0.115;0.39;0.007;0.022;0.022	B;B;B;B;B	0.21546	0.035;0.025;0.021;0.008;0.008	T	0.70641	-0.4816	10	0.41790	T	0.15	.	9.1463	0.36935	0.0795:0.0:0.766:0.1545	.	366;131;366;348;366	F5H0G2;Q59EN9;B4DUY1;A8MXA4;Q14849	.;.;.;.;STAR3_HUMAN	T	366;366;348	ENSP00000337446:A366T;ENSP00000439869:A366T;ENSP00000377794:A348T	ENSP00000337446:A366T	A	+	1	0	STARD3	35070821	0.999000	0.42202	0.908000	0.35775	0.110000	0.19582	3.058000	0.49939	1.123000	0.41961	0.561000	0.74099	GCC		0.617	STARD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256933.1	0			17:37817295
CSMD2	114784	broad.mit.edu	37	1	34383705	34383705	+	Missense_Mutation	SNP	A	A	T			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr1:34383705A>T	ENST00000373381.4	-	5	1086	c.910T>A	c.(910-912)Tcc>Acc	p.S304T		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	264	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CAGAGGGAGGAGCCTTCTGTC	0.537																																						ENST00000373381.4		NA																	0				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(910-912)Tcc>Acc		CUB and Sushi multiple domains 2							95.0	84.0	88.0					1																	34383705		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34383705A>T	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.910T>A	1.37:g.34383705A>T	ENSP00000362479:p.Ser304Thr	True	False		Somatic	0					p.S304T	NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	WXS	Illumina HiSeq	Phase_I	Q7Z408	CSMD2_HUMAN			5	1086	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	264			CUB 2.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37	c.910T>A		.	.	.	.	.	.	.	.	.	.	A	10.17	1.276798	0.23307	.	.	ENSG00000121904	ENST00000373381	D	0.87650	-2.28	5.48	4.36	0.52297	CUB (5);	0.072866	0.56097	D	0.000029	T	0.80237	0.4586	N	0.20483	0.58	0.80722	D	1	P;B	0.36183	0.542;0.354	P;B	0.44921	0.464;0.183	T	0.74668	-0.3588	10	0.14656	T	0.56	.	10.0631	0.42286	0.9216:0.0:0.0784:0.0	.	264;304	Q7Z408;E7EUA6	CSMD2_HUMAN;.	T	304	ENSP00000362479:S304T	ENSP00000241312:S264T	S	-	1	0	CSMD2	34156292	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	3.738000	0.55067	2.095000	0.63458	0.391000	0.25812	TCC		0.537	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		0	NM_052896		1:34383705
SPATA31E1	286234	broad.mit.edu	37	9	90501079	90501079	+	Silent	SNP	C	C	T			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr9:90501079C>T	ENST00000325643.5	+	4	1743	c.1677C>T	c.(1675-1677)gtC>gtT	p.V559V		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	559					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CACAGTCTGTCATCCCCACTG	0.547																																						ENST00000325643.5		NA																	0					NA						c.(1675-1677)gtC>gtT		SPATA31 subfamily E, member 1							107.0	114.0	111.0					9																	90501079		2203	4300	6503	SO:0001819	synonymous_variant	286234							g.chr9:90501079C>T	AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 79"", ""family with sequence similarity 75, member E1"""	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.1677C>T	9.37:g.90501079C>T		False	False		Somatic	0					p.V559V	NM_178828.4	NP_849150.3	WXS	Illumina HiSeq	Phase_I					4	1743	+			NA					B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Silent	SNP	ENST00000325643.5	37	c.1677C>T	CCDS6676.1																																																																																				0.547	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	0	NM_178828		9:90501079
MIR363	574031	broad.mit.edu	37	X	133303764	133303764	+	RNA	SNP	C	C	T			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chrX:133303764C>T	ENST00000384840.1	-	0	0				MIR106A_ENST00000384870.1_RNA|MIR18B_ENST00000454574.2_RNA|MIR92A2_ENST00000385299.1_RNA|MIR20B_ENST00000384977.1_RNA|MIR19B2_ENST00000385077.2_RNA	NR_029852.1				microRNA 363																		CGCTGAAATGCAAACCTGCAA	0.388																																						ENST00000385077.2		NA																	0					NA															143.0	119.0	126.0					X																	133303764		1568	3582	5150			0							g.chrX:133303764C>T			Xq26.2	2012-03-12		2008-12-18	ENSG00000207572	ENSG00000207572		"""ncRNAs / Micro RNAs"""	32023	non-coding RNA	RNA, micro				MIRN363			Standard	NR_029852		Approved	hsa-mir-363, MIR-363	uc022ceb.1				X.37:g.133303764C>T		True	False		Somatic	0						NR_029491.1		WXS	Illumina HiSeq	Phase_I					0	33	-			NA						RNA	SNP	ENST00000384840.1	37																																																																																						0.388	MIR363-201	KNOWN	basic	miRNA	miRNA		0	NR_029852		X:133303764
TMEM248	55069	broad.mit.edu	37	7	66410195	66410195	+	Missense_Mutation	SNP	G	G	A	rs374932648		TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr7:66410195G>A	ENST00000341567.4	+	3	647	c.392G>A	c.(391-393)cGc>cAc	p.R131H		NM_017994.4	NP_060464.1	Q9NWD8	TM248_HUMAN	transmembrane protein 248	131						integral component of membrane (GO:0016021)											GGGTATTCCCGCAACGTCACC	0.557																																						ENST00000341567.4		NA																	0					NA						c.(391-393)cGc>cAc		transmembrane protein 248		G	HIS/ARG	0,4406		0,0,2203	103.0	101.0	101.0		392	5.8	1.0	7		101	1,8599	1.2+/-3.3	0,1,4299	no	missense	C7orf42	NM_017994.4	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	131/315	66410195	1,13005	2203	4300	6503	SO:0001583	missense	55069							g.chr7:66410195G>A		CCDS5536.1	7q11.21	2012-05-30	2012-05-30	2012-05-30	ENSG00000106609	ENSG00000106609			25476	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 42"""	C7orf42		12477932	Standard	XM_005250482		Approved	FLJ10099, FLJ13090	uc003tvk.3	Q9NWD8	OTTHUMG00000129553	ENST00000341567.4:c.392G>A	7.37:g.66410195G>A	ENSP00000340668:p.Arg131His	True	False		Somatic	0					p.R131H	NM_017994.4	NP_060464.1	WXS	Illumina HiSeq	Phase_I					3	647	+			NA					Q53H07|Q96FR2	Missense_Mutation	SNP	ENST00000341567.4	37	c.392G>A	CCDS5536.1	.	.	.	.	.	.	.	.	.	.	G	16.25	3.069252	0.55539	0.0	1.16E-4	ENSG00000106609	ENST00000341567;ENST00000424964	.	.	.	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.49915	0.1585	N	0.20986	0.625	0.80722	D	1	B	0.23891	0.093	B	0.16722	0.016	T	0.40079	-0.9582	9	0.20519	T	0.43	-10.4256	19.0145	0.92888	0.0:0.0:1.0:0.0	.	131	Q9NWD8	CG042_HUMAN	H	131	.	ENSP00000340668:R131H	R	+	2	0	C7orf42	66047630	1.000000	0.71417	0.974000	0.42286	0.581000	0.36288	9.394000	0.97261	2.735000	0.93741	0.655000	0.94253	CGC		0.557	TMEM248-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251745.2	0	NM_017994		7:66410195
ZCCHC11	23318	broad.mit.edu	37	1	52933891	52933891	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr1:52933891A>G	ENST00000371544.3	-	15	3189	c.2927T>C	c.(2926-2928)tTa>tCa	p.L976S	ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000257177.4_Missense_Mutation_p.L976S	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	976					cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						CAAGCCAATTAAAATTTGCTC	0.308																																						ENST00000371544.3		NA																	0				NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(2926-2928)tTa>tCa		zinc finger, CCHC domain containing 11							64.0	62.0	62.0					1																	52933891		2203	4293	6496	SO:0001583	missense	23318				miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding	g.chr1:52933891A>G	D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"""Zinc fingers, CCHC domain containing"""	28981	protein-coding gene	gene with protein product	"""TUTase4"""	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.2927T>C	1.37:g.52933891A>G	ENSP00000360599:p.Leu976Ser	True	False		Somatic	0				ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000257177.4_Missense_Mutation_p.L976S	p.L976S	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	WXS	Illumina HiSeq	Phase_I	Q5TAX3	TUT4_HUMAN			15	3189	-			976					A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Missense_Mutation	SNP	ENST00000371544.3	37	c.2927T>C	CCDS30716.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.157006	0.78114	.	.	ENSG00000134744	ENST00000257177;ENST00000371544;ENST00000528642;ENST00000484723	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	5.48	5.48	0.80851	.	0.076139	0.53938	D	0.000052	T	0.66346	0.2780	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	0.994;1.0	D;D	0.91635	0.946;0.999	T	0.64980	-0.6279	10	0.34782	T	0.22	.	15.5436	0.76077	1.0:0.0:0.0:0.0	.	735;976	E9PKX1;Q5TAX3	.;TUT4_HUMAN	S	976;976;905;735	ENSP00000257177:L976S;ENSP00000360599:L976S;ENSP00000433486:L905S;ENSP00000435256:L735S	ENSP00000257177:L976S	L	-	2	0	ZCCHC11	52706479	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.449000	0.80643	2.076000	0.62316	0.378000	0.23410	TTA		0.308	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1	0	XM_038288		1:52933891
RBM12	10137	broad.mit.edu	37	20	34241168	34241168	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr20:34241168G>A	ENST00000374114.3	-	3	2340	c.2077C>T	c.(2077-2079)Ccc>Tcc	p.P693S	RP1-309K20.6_ENST00000541176.2_Intron|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000397446.1_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.P693S|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000352393.4_Intron|RBM12_ENST00000359646.1_Missense_Mutation_p.P693S|CPNE1_ENST00000317677.5_Intron	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	693	Gly-rich.|Pro-rich.					nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CCTGCACTGGGCATTCCCGCA	0.557																																						ENST00000374114.3		NA																	0				breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(2077-2079)Ccc>Tcc		RNA binding motif protein 12							49.0	47.0	48.0					20																	34241168		2199	4292	6491	SO:0001583	missense	10137					nucleus	nucleotide binding|protein binding|RNA binding	g.chr20:34241168G>A	AJ289772	CCDS13261.1	20q11.21	2013-02-12			ENSG00000244462	ENSG00000244462		"""RNA binding motif (RRM) containing"""	9898	protein-coding gene	gene with protein product		607179				11435693	Standard	NM_006047		Approved	HRIHFB2091, KIAA0765, SWAN	uc021wcq.1	Q9NTZ6	OTTHUMG00000032350	ENST00000374114.3:c.2077C>T	20.37:g.34241168G>A	ENSP00000363228:p.Pro693Ser	True	False		Somatic	0				RBM12_ENST00000359646.1_Missense_Mutation_p.P693S|RBM12_ENST00000374104.3_Missense_Mutation_p.P693S|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000317677.5_Intron|CPNE1_ENST00000352393.4_Intron|RP1-309K20.6_ENST00000541176.2_Intron|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397445.1_Intron	p.P693S	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	WXS	Illumina HiSeq	Phase_I	Q9NTZ6	RBM12_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00953)		3	2340	-	Lung NSC(9;0.00608)|all_lung(11;0.00918)		693			Gly-rich.|Pro-rich.		B3KRU2|E1P5R6|O94865|Q8N3B1|Q9H196	Missense_Mutation	SNP	ENST00000374114.3	37	c.2077C>T	CCDS13261.1	.	.	.	.	.	.	.	.	.	.	G	36	5.653504	0.96724	.	.	ENSG00000244462	ENST00000374114;ENST00000359646;ENST00000374104;ENST00000349942	T;T;T	0.22336	1.96;1.96;1.96	4.03	4.03	0.46877	.	0.000000	0.64402	D	0.000018	T	0.27663	0.0680	N	0.19112	0.55	0.80722	D	1	D	0.63880	0.993	D	0.70227	0.968	T	0.02365	-1.1170	10	0.19590	T	0.45	-3.377	14.4866	0.67622	0.0:0.0:1.0:0.0	.	693	Q9NTZ6	RBM12_HUMAN	S	693;693;693;492	ENSP00000363228:P693S;ENSP00000352668:P693S;ENSP00000363217:P693S	ENSP00000339879:P492S	P	-	1	0	RBM12	33704582	0.002000	0.14202	0.997000	0.53966	0.903000	0.53119	-0.160000	0.10041	2.528000	0.85240	0.563000	0.77884	CCC		0.557	RBM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078894.1	0	NM_006047		20:34241168
VAV1	7409	broad.mit.edu	37	19	6829851	6829851	+	Silent	SNP	C	C	G			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr19:6829851C>G	ENST00000602142.1	+	14	1402	c.1320C>G	c.(1318-1320)tcC>tcG	p.S440S	VAV1_ENST00000596764.1_Silent_p.S408S|VAV1_ENST00000304076.2_Silent_p.S440S|VAV1_ENST00000539284.1_Silent_p.S343S|VAV1_ENST00000599806.1_Silent_p.S385S	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	440	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						GGGGAGACTCCTATGACCTCA	0.527																																						ENST00000304076.2		NA																	0				biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						c.(1318-1320)tcC>tcG		vav 1 guanine nucleotide exchange factor							156.0	127.0	137.0					19																	6829851		2203	4300	6503	SO:0001819	synonymous_variant	7409				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:6829851C>G		CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12657	protein-coding gene	gene with protein product		164875	"""vav 1 oncogene"""	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.1320C>G	19.37:g.6829851C>G		False	False		Somatic	0				VAV1_ENST00000596764.1_Silent_p.S408S|VAV1_ENST00000602142.1_Silent_p.S440S|VAV1_ENST00000539284.1_Silent_p.S343S|VAV1_ENST00000599806.1_Silent_p.S385S	p.S440S	NM_001258206.1	NP_001245135.1	WXS	Illumina HiSeq	Phase_I	P15498	VAV_HUMAN			14	1414	+			440			PH.		B4DVK9|M0QXX6|Q15860	Silent	SNP	ENST00000602142.1	37	c.1320C>G	CCDS12174.1																																																																																				0.527	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1	0			19:6829851
ZSCAN20	7579	broad.mit.edu	37	1	33957115	33957115	+	Silent	SNP	T	T	C			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr1:33957115T>C	ENST00000361328.3	+	6	1410	c.1257T>C	c.(1255-1257)gaT>gaC	p.D419D	ZSCAN20_ENST00000373413.2_Silent_p.D365D	NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	419					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GAGCCACAGATGGCCCAGGAG	0.607																																						ENST00000361328.3		NA																	0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31						c.(1255-1257)gaT>gaC		zinc finger and SCAN domain containing 20							56.0	63.0	61.0					1																	33957115		1931	4133	6064	SO:0001819	synonymous_variant	7579				viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:33957115T>C	X52360	CCDS41300.1	1p34.3	2013-01-08	2007-02-20	2007-02-20	ENSG00000121903	ENSG00000121903		"""-"", ""Zinc fingers, C2H2-type"""	13093	protein-coding gene	gene with protein product		611315	"""zinc finger protein 31 (KOX 29)"", ""zinc finger protein 31"""	ZNF360, ZNF31		2288909	Standard	NM_145238		Approved	KOX29	uc001bxj.4	P17040	OTTHUMG00000004173	ENST00000361328.3:c.1257T>C	1.37:g.33957115T>C		False	False		Somatic	0				ZSCAN20_ENST00000373413.2_Silent_p.D365D	p.D419D	NM_145238.3	NP_660281	WXS	Illumina HiSeq	Phase_I	P17040	ZSC20_HUMAN			6	1410	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	419					A8K2D0|B1ALI4|B1ALI5|B1ALI6|Q6ZN23|Q96FA9|Q96H84	Silent	SNP	ENST00000361328.3	37	c.1257T>C	CCDS41300.1																																																																																				0.607	ZSCAN20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277003.2	0	NM_145238		1:33957115
OR51A7	119687	broad.mit.edu	37	11	4928955	4928955	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr11:4928955C>A	ENST00000359350.4	+	1	356	c.356C>A	c.(355-357)tCt>tAt	p.S119Y	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	119						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(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTAATTATGTCTTTGGACCGC	0.403																																						ENST00000359350.4		NA																	0				breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(355-357)tCt>tAt		olfactory receptor, family 51, subfamily A, member 7							108.0	101.0	103.0					11																	4928955		2201	4298	6499	SO:0001583	missense	119687				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4928955C>A	AB065525	CCDS31364.1	11p15.4	2012-08-09			ENSG00000176895	ENSG00000176895		"""GPCR / Class A : Olfactory receptors"""	15188	protein-coding gene	gene with protein product							Standard	NM_001004749		Approved		uc010qyq.2	Q8NH64	OTTHUMG00000066502	ENST00000359350.4:c.356C>A	11.37:g.4928955C>A	ENSP00000352305:p.Ser119Tyr	True	False		Somatic	0				MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	p.S119Y	NM_001004749.1	NP_001004749.1	WXS	Illumina HiSeq	Phase_I	Q8NH64	O51A7_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	356	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	119					Q6IFH8	Missense_Mutation	SNP	ENST00000359350.4	37	c.356C>A	CCDS31364.1	.	.	.	.	.	.	.	.	.	.	C	17.39	3.377814	0.61735	.	.	ENSG00000176895	ENST00000359350;ENST00000545959;ENST00000544684	T	0.81415	-1.49	5.02	5.02	0.67125	GPCR, rhodopsin-like superfamily (1);	0.145141	0.32328	N	0.006243	D	0.92463	0.7607	H	0.94808	3.585	0.31719	N	0.6385	D	0.89917	1.0	D	0.76575	0.988	D	0.93516	0.6857	10	0.87932	D	0	.	17.069	0.86568	0.0:1.0:0.0:0.0	.	119	Q8NH64	O51A7_HUMAN	Y	119;119;108	ENSP00000352305:S119Y	ENSP00000352305:S119Y	S	+	2	0	OR51A7	4885531	1.000000	0.71417	1.000000	0.80357	0.411000	0.31082	5.325000	0.65869	2.596000	0.87737	0.655000	0.94253	TCT		0.403	OR51A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142175.1	0	NM_001004749		11:4928955
ZNF215	7762	broad.mit.edu	37	11	6953847	6953847	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr11:6953847A>G	ENST00000278319.5	+	3	932	c.344A>G	c.(343-345)aAc>aGc	p.N115S	ZNF215_ENST00000414517.2_Missense_Mutation_p.N115S|ZNF215_ENST00000527171.1_3'UTR|ZNF215_ENST00000529903.1_Missense_Mutation_p.N115S	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	115	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		CATCCAAACAACAGTAAAGAT	0.378																																						ENST00000278319.5		NA																	0				NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32						c.(343-345)aAc>aGc		zinc finger protein 215							59.0	63.0	61.0					11																	6953847		2201	4296	6497	SO:0001583	missense	7762				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:6953847A>G	AF056618	CCDS7775.1	11p15.4	2013-01-09			ENSG00000149054	ENSG00000149054		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13007	protein-coding gene	gene with protein product		605016					Standard	XM_005253130		Approved	ZKSCAN11, ZSCAN43	uc001mey.3	Q9UL58	OTTHUMG00000165507	ENST00000278319.5:c.344A>G	11.37:g.6953847A>G	ENSP00000278319:p.Asn115Ser	False	False		Somatic	0				ZNF215_ENST00000414517.2_Missense_Mutation_p.N115S|ZNF215_ENST00000527171.1_3'UTR|ZNF215_ENST00000529903.1_Missense_Mutation_p.N115S	p.N115S	NM_013250.2	NP_037382.2	WXS	Illumina HiSeq	Phase_I	Q9UL58	ZN215_HUMAN		Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)	3	932	+			115			SCAN box.		Q96C84	Missense_Mutation	SNP	ENST00000278319.5	37	c.344A>G	CCDS7775.1	.	.	.	.	.	.	.	.	.	.	A	6.216	0.407981	0.11754	.	.	ENSG00000149054	ENST00000278319;ENST00000414517;ENST00000529903	T;T;T	0.04015	3.73;3.73;3.73	4.14	0.197	0.15164	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.168848	0.28166	N	0.016350	T	0.02342	0.0072	N	0.13352	0.335	0.22903	N	0.998588	B;B;B	0.32409	0.248;0.37;0.181	B;B;B	0.35770	0.112;0.21;0.074	T	0.44682	-0.9312	10	0.05959	T	0.93	-7.9422	6.3872	0.21568	0.6446:0.0:0.3554:0.0	.	115;115;115	B4DYW9;Q96C84;Q9UL58	.;.;ZN215_HUMAN	S	115	ENSP00000278319:N115S;ENSP00000393202:N115S;ENSP00000432306:N115S	ENSP00000278319:N115S	N	+	2	0	ZNF215	6910423	0.062000	0.20869	0.987000	0.45799	0.144000	0.21451	-0.089000	0.11180	0.022000	0.15160	0.533000	0.62120	AAC		0.378	ZNF215-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384550.1	0			11:6953847
ABRA	137735	broad.mit.edu	37	8	107782407	107782407	+	Silent	SNP	G	G	A			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr8:107782407G>A	ENST00000311955.3	-	1	66	c.12C>T	c.(10-12)ggC>ggT	p.G4G		NM_139166.4	NP_631905.1			actin-binding Rho activating protein											breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			TTTCCTTTTCGCCCGGAGCCA	0.592																																						ENST00000311955.3		NA																	0				breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27						c.(10-12)ggC>ggT		actin-binding Rho activating protein																																				SO:0001819	synonymous_variant	137735				positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding	g.chr8:107782407G>A	AF503617	CCDS6305.1	8q23.1	2012-02-06			ENSG00000174429	ENSG00000174429			30655	protein-coding gene	gene with protein product	"""striated muscle activator of Rho-dependent signaling"""	609747				11983702	Standard	NM_139166		Approved	STARS	uc003ymm.4	Q8N0Z2	OTTHUMG00000164809	ENST00000311955.3:c.12C>T	8.37:g.107782407G>A		True	False		Somatic	0					p.G4G	NM_139166.4	NP_631905.1	WXS	Illumina HiSeq	Phase_I	Q8N0Z2	ABRA_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)		1	66	-			4						Silent	SNP	ENST00000311955.3	37	c.12C>T	CCDS6305.1																																																																																				0.592	ABRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380416.1	0	NM_139166		8:107782407
EPS8	2059	broad.mit.edu	37	12	15807213	15807213	+	Silent	SNP	T	T	G			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr12:15807213T>G	ENST00000281172.5	-	13	1552	c.1116A>C	c.(1114-1116)acA>acC	p.T372T	EPS8_ENST00000542903.1_Silent_p.T112T|EPS8_ENST00000540613.1_Silent_p.T112T|EPS8_ENST00000543612.1_Silent_p.T372T|EPS8_ENST00000543523.1_Silent_p.T372T	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	372					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|actin filament bundle assembly (GO:0051017)|actin polymerization-dependent cell motility (GO:0070358)|adult locomotory behavior (GO:0008344)|barbed-end actin filament capping (GO:0051016)|behavioral response to ethanol (GO:0048149)|cell proliferation (GO:0008283)|dendritic cell migration (GO:0036336)|epidermal growth factor receptor signaling pathway (GO:0007173)|exit from mitosis (GO:0010458)|positive regulation of signal transduction (GO:0009967)|Rac protein signal transduction (GO:0016601)|regulation of actin filament length (GO:0030832)|regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|ruffle membrane (GO:0032587)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actin binding (GO:0003779)|Rac GTPase binding (GO:0048365)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		CAGGACCTCCTGTTGCCTGCA	0.373																																						ENST00000281172.5		NA																	0				NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(1114-1116)acA>acC		epidermal growth factor receptor pathway substrate 8							84.0	76.0	78.0					12																	15807213		2203	4300	6503	SO:0001819	synonymous_variant	0				cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity	g.chr12:15807213T>G	U12535	CCDS31753.1	12p12.3	2008-05-02				ENSG00000151491			3420	protein-coding gene	gene with protein product		600206				8084614	Standard	NM_004447		Approved		uc001rdb.3	Q12929		ENST00000281172.5:c.1116A>C	12.37:g.15807213T>G		False	False		Somatic	0				EPS8_ENST00000543612.1_Silent_p.T372T|EPS8_ENST00000542903.1_Silent_p.T112T|EPS8_ENST00000540613.1_Silent_p.T112T|EPS8_ENST00000543523.1_Silent_p.T372T	p.T372T	NM_004447.5	NP_004438.3	WXS	Illumina HiSeq	Phase_I	Q12929	EPS8_HUMAN		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)	13	1552	-		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)	372					A6NMC3|A8K6W2|A8KA66|B4DX66|Q8N6J0	Silent	SNP	ENST00000281172.5	37	c.1116A>C	CCDS31753.1																																																																																				0.373	EPS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401093.1	0			12:15807213
WSB2	55884	broad.mit.edu	37	12	118481162	118481162	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr12:118481162G>C	ENST00000315436.3	-	3	344	c.203C>G	c.(202-204)gCc>gGc	p.A68G	WSB2_ENST00000536738.1_5'UTR|WSB2_ENST00000441406.2_Missense_Mutation_p.A85G|WSB2_ENST00000535496.1_Missense_Mutation_p.A70G|WSB2_ENST00000542304.1_5'UTR|WSB2_ENST00000544233.1_Intron	NM_001278557.1|NM_018639.3	NP_001265486.1|NP_061109.1	Q9NYS7	WSB2_HUMAN	WD repeat and SOCS box containing 2	68					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCGGCTTTTGGCTTCAAACCC	0.493																																						ENST00000315436.3		NA																	0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17						c.(202-204)gCc>gGc		WD repeat and SOCS box containing 2							121.0	128.0	126.0					12																	118481162		2203	4300	6503	SO:0001583	missense	55884				intracellular signal transduction			g.chr12:118481162G>C	AF038187	CCDS9186.1, CCDS61251.1, CCDS61252.1	12q24.23	2013-01-09	2011-01-25		ENSG00000176871	ENSG00000176871		"""WD repeat domain containing"""	19222	protein-coding gene	gene with protein product			"""WD repeat and SOCS box-containing 2"""			12076535	Standard	NM_018639		Approved	SBA2, MGC10210	uc001twr.2	Q9NYS7	OTTHUMG00000168885	ENST00000315436.3:c.203C>G	12.37:g.118481162G>C	ENSP00000319474:p.Ala68Gly	False	False		Somatic	0				WSB2_ENST00000544233.1_Intron|WSB2_ENST00000535496.1_Missense_Mutation_p.A70G|WSB2_ENST00000536738.1_5'UTR|WSB2_ENST00000542304.1_5'UTR|WSB2_ENST00000441406.2_Missense_Mutation_p.A85G	p.A68G	NM_001278557.1|NM_018639.3	NP_001265486.1|NP_061109.1	WXS	Illumina HiSeq	Phase_I	Q9NYS7	WSB2_HUMAN			3	344	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		68					B4DIE6|B4DPV6|Q9NRX9	Missense_Mutation	SNP	ENST00000315436.3	37	c.203C>G	CCDS9186.1	.	.	.	.	.	.	.	.	.	.	G	12.02	1.813241	0.32053	.	.	ENSG00000176871	ENST00000315436;ENST00000441406;ENST00000535496;ENST00000537945	T;T;T;T	0.61510	0.33;0.35;0.37;0.1	5.24	5.24	0.73138	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.647108	0.14669	N	0.305457	T	0.39145	0.1067	N	0.19112	0.55	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16247	-1.0409	10	0.02654	T	1	-15.2412	14.0586	0.64786	0.0:0.152:0.848:0.0	.	68	Q9NYS7	WSB2_HUMAN	G	68;85;70;70	ENSP00000319474:A68G;ENSP00000409131:A85G;ENSP00000439450:A70G;ENSP00000440386:A70G	ENSP00000319474:A68G	A	-	2	0	WSB2	116965545	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.925000	0.56484	2.731000	0.93534	0.650000	0.86243	GCC		0.493	WSB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401515.1	0	NM_018639		12:118481162
FBXL6	26233	broad.mit.edu	37	8	145580308	145580308	+	Silent	SNP	G	G	A	rs148685592		TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr8:145580308G>A	ENST00000331890.5	-	6	1009	c.945C>T	c.(943-945)ccC>ccT	p.P315P	TMEM249_ENST00000398633.3_5'Flank|SLC52A2_ENST00000402965.1_5'Flank|FBXL6_ENST00000526524.1_5'UTR|FBXL6_ENST00000455319.2_Silent_p.P309P|SLC52A2_ENST00000329994.2_5'Flank|SLC52A2_ENST00000532887.1_5'Flank|SLC52A2_ENST00000540505.1_5'Flank|TMEM249_ENST00000531225.1_5'Flank|SLC52A2_ENST00000530047.1_5'Flank|SLC52A2_ENST00000526752.1_5'Flank|SLC52A2_ENST00000527078.1_5'Flank	NM_012162.2	NP_036294.2	Q8N531	FBXL6_HUMAN	F-box and leucine-rich repeat protein 6	315					protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)		ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|lung(3)|ovary(1)	5	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			GCAGCTGAAGGGGAATGCTAT	0.647																																						ENST00000331890.5		NA																	0				endometrium(1)|lung(3)|ovary(1)	5						c.(943-945)ccC>ccT		F-box and leucine-rich repeat protein 6		G	,	1,4405	2.1+/-5.4	0,1,2202	80.0	80.0	80.0		945,927	-1.7	0.7	8	dbSNP_134	80	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous	FBXL6	NM_012162.1,NM_024555.3	,	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	,	315/540,309/534	145580308	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	26233				proteolysis		ubiquitin-protein ligase activity	g.chr8:145580308G>A	AF174592	CCDS6422.1, CCDS47942.1	8q24.3	2011-06-09			ENSG00000182325	ENSG00000182325		"""F-boxes / Leucine-rich repeats"""	13603	protein-coding gene	gene with protein product		609076				10531035, 10531037	Standard	NM_012162		Approved	FBL6	uc003zcb.3	Q8N531	OTTHUMG00000165169	ENST00000331890.5:c.945C>T	8.37:g.145580308G>A		True	False		Somatic	0				FBXL6_ENST00000526524.1_5'UTR|FBXL6_ENST00000455319.2_Silent_p.P309P	p.P315P	NM_012162.2	NP_036294.2	WXS	Illumina HiSeq	Phase_I	Q8N531	FBXL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)		6	1009	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		315					Q53G43|Q9H5W9|Q9UKC7	Silent	SNP	ENST00000331890.5	37	c.945C>T	CCDS6422.1																																																																																				0.647	FBXL6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382413.1	0	NM_024555		8:145580308
OR9Q2	219957	broad.mit.edu	37	11	57958767	57958767	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr11:57958767G>A	ENST00000311591.3	+	1	862	c.805G>A	c.(805-807)Gag>Aag	p.E269K		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	269						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E269K(1)		breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				CCAGTCCTCCGAGGGAGACCG	0.552																																						ENST00000311591.3		NA																	1	Substitution - Missense(1)	p.E269K(1)	large_intestine(1)	breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						c.(805-807)Gag>Aag		olfactory receptor, family 9, subfamily Q, member 2							101.0	93.0	96.0					11																	57958767		2201	4296	6497	SO:0001583	missense	219957				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57958767G>A	AB065859	CCDS31544.1	11q12.1	2012-08-09		2004-03-10	ENSG00000186513	ENSG00000186513		"""GPCR / Class A : Olfactory receptors"""	15328	protein-coding gene	gene with protein product				OR9Q2P			Standard	NM_001005283		Approved		uc010rka.2	Q8NGE9	OTTHUMG00000167414	ENST00000311591.3:c.805G>A	11.37:g.57958767G>A	ENSP00000308714:p.Glu269Lys	False	False		Somatic	0					p.E269K	NM_001005283.2	NP_001005283.1	WXS	Illumina HiSeq	Phase_I	Q8NGE9	OR9Q2_HUMAN			1	862	+		Breast(21;0.0589)	269						Missense_Mutation	SNP	ENST00000311591.3	37	c.805G>A	CCDS31544.1	.	.	.	.	.	.	.	.	.	.	G	9.517	1.107203	0.20714	.	.	ENSG00000186513	ENST00000311591	T	0.00099	8.73	5.09	2.85	0.33270	GPCR, rhodopsin-like superfamily (1);	0.463064	0.18027	N	0.154059	T	0.00109	0.0003	N	0.25825	0.765	0.09310	N	1	B	0.27932	0.194	B	0.22601	0.04	T	0.21042	-1.0257	10	0.59425	D	0.04	-9.1453	9.2658	0.37641	0.0947:0.1872:0.7181:0.0	.	269	Q8NGE9	OR9Q2_HUMAN	K	269	ENSP00000308714:E269K	ENSP00000308714:E269K	E	+	1	0	OR9Q2	57715343	0.006000	0.16342	0.072000	0.20136	0.347000	0.29111	1.109000	0.31135	1.338000	0.45544	0.655000	0.94253	GAG		0.552	OR9Q2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394540.1	0	NM_001005283		11:57958767
CEP83	51134	broad.mit.edu	37	12	94761622	94761622	+	Missense_Mutation	SNP	G	G	A	rs111647062	byFrequency	TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr12:94761622G>A	ENST00000397809.5	-	11	1840	c.1291C>T	c.(1291-1293)Cgg>Tgg	p.R431W	CCDC41_ENST00000397807.2_Missense_Mutation_p.R398W|CCDC41_ENST00000549352.1_5'Flank|CCDC41_ENST00000339839.5_Missense_Mutation_p.R431W	NM_016122.2	NP_057206.2	Q9Y592	CEP83_HUMAN		423					cilium assembly (GO:0042384)|protein localization to centrosome (GO:0071539)|vesicle docking (GO:0048278)	centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|Golgi apparatus (GO:0005794)				breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						TGTGAAGCCCGCAATTTCTCT	0.373													G|||	3	0.000599042	0.0008	0.0	5008	,	,		17571	0.0		0.002	False		,,,				2504	0.0					ENST00000397809.5		NA																	0				breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						c.(1291-1293)Cgg>Tgg		coiled-coil domain containing 41		G	TRP/ARG,TRP/ARG	1,3709		0,1,1854	149.0	137.0	141.0		1291,1291	4.9	1.0	12	dbSNP_132	141	2,8212		0,2,4105	yes	missense,missense	CCDC41	NM_001042399.1,NM_016122.2	101,101	0,3,5959	AA,AG,GG		0.0243,0.027,0.0252	probably-damaging,probably-damaging	431/702,431/702	94761622	3,11921	1855	4107	5962	SO:0001583	missense	51134							g.chr12:94761622G>A																												ENST00000397809.5:c.1291C>T	12.37:g.94761622G>A	ENSP00000380911:p.Arg431Trp	True	False		Somatic	0				CCDC41_ENST00000397807.2_Missense_Mutation_p.R398W|CCDC41_ENST00000339839.5_Missense_Mutation_p.R431W	p.R431W	NM_016122.2	NP_057206.2	WXS	Illumina HiSeq	Phase_I	Q9Y592	CCD41_HUMAN			11	1840	-			423					A4FVB1|Q08AP1	Missense_Mutation	SNP	ENST00000397809.5	37	c.1291C>T	CCDS41820.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	14.11	2.438221	0.43326	2.7E-4	2.43E-4	ENSG00000173588	ENST00000339839;ENST00000397809;ENST00000397807	T;T;T	0.53857	1.94;1.94;0.6	5.83	4.94	0.65067	.	.	.	.	.	T	0.56761	0.2007	L	0.56769	1.78	0.36865	D	0.888618	D;D	0.76494	0.999;0.993	P;P	0.50896	0.653;0.534	T	0.67515	-0.5651	9	0.87932	D	0	-8.5225	10.5268	0.44954	0.0683:0.0:0.7969:0.1348	.	398;423	Q9Y592-2;Q9Y592	.;CCD41_HUMAN	W	431;431;398	ENSP00000344655:R431W;ENSP00000380911:R431W;ENSP00000380909:R398W	ENSP00000344655:R431W	R	-	1	2	CCDC41	93285753	1.000000	0.71417	1.000000	0.80357	0.006000	0.05464	6.105000	0.71505	1.461000	0.47929	-0.181000	0.13052	CGG		0.373	CCDC41-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408147.3	0			12:94761622
GALNT5	11227	broad.mit.edu	37	2	158157419	158157419	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr2:158157419C>G	ENST00000259056.4	+	7	2832	c.2347C>G	c.(2347-2349)Ctg>Gtg	p.L783V	RN7SKP281_ENST00000410472.1_RNA|GALNT5_ENST00000463418.1_3'UTR	NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	polypeptide N-acetylgalactosaminyltransferase 5	783					cellular protein metabolic process (GO:0044267)|glycosaminoglycan biosynthetic process (GO:0006024)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						GCAAAGGGAGCTGCGAAAGAA	0.498																																						ENST00000259056.4		NA																	0				breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						c.(2347-2349)Ctg>Gtg		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)							103.0	97.0	99.0					2																	158157419		2203	4300	6503	SO:0001583	missense	11227				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:158157419C>G	AJ245539	CCDS2203.1	2q24.1	2014-03-13	2014-03-13		ENSG00000136542	ENSG00000136542	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4127	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 5"""	615129	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)"""			10545594	Standard	NM_014568		Approved	GalNAc-T5	uc002tzg.3	Q7Z7M9	OTTHUMG00000131965	ENST00000259056.4:c.2347C>G	2.37:g.158157419C>G	ENSP00000259056:p.Leu783Val	False	False		Somatic	0				GALNT5_ENST00000463418.1_3'UTR	p.L783V	NM_014568.1	NP_055383.1	WXS	Illumina HiSeq	Phase_I	Q7Z7M9	GALT5_HUMAN			7	2832	+			783					A5PKZ1|Q9UGK7|Q9UHL6	Missense_Mutation	SNP	ENST00000259056.4	37	c.2347C>G	CCDS2203.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.296112	0.81025	.	.	ENSG00000136542	ENST00000259056	T	0.57907	0.37	5.54	4.65	0.58169	.	0.069082	0.56097	D	0.000030	T	0.69646	0.3134	M	0.79011	2.435	0.53688	D	0.999977	D	0.63880	0.993	P	0.62435	0.902	T	0.74293	-0.3712	10	0.87932	D	0	.	13.1441	0.59450	0.0:0.921:0.0:0.079	.	783	Q7Z7M9	GALT5_HUMAN	V	783	ENSP00000259056:L783V	ENSP00000259056:L783V	L	+	1	2	GALNT5	157865665	0.998000	0.40836	0.970000	0.41538	0.994000	0.84299	3.340000	0.52143	1.305000	0.44909	0.563000	0.77884	CTG		0.498	GALNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254925.2	0	NM_014568		2:158157419
NGF	4803	broad.mit.edu	37	1	115828736	115828736	+	Silent	SNP	C	C	T	rs565497625		TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr1:115828736C>T	ENST00000369512.2	-	3	849	c.681G>A	c.(679-681)acG>acA	p.T227T	RP4-663N10.1_ENST00000425449.1_RNA	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN	nerve growth factor (beta polypeptide)	227					activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|adult locomotory behavior (GO:0008344)|apoptotic signaling pathway (GO:0097190)|circadian rhythm (GO:0007623)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|memory (GO:0007613)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|nerve growth factor processing (GO:0032455)|neuron apoptotic process (GO:0051402)|neuron projection morphogenesis (GO:0048812)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axon extension (GO:0045773)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neurotrophin TRK receptor signaling pathway (GO:0051388)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|Ras protein signal transduction (GO:0007265)|regulation of axonogenesis (GO:0050770)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of neurotransmitter secretion (GO:0046928)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to nicotine (GO:0035094)|response to ozone (GO:0010193)|response to peptide hormone (GO:0043434)|response to radiation (GO:0009314)|sensory perception of pain (GO:0019233)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)	nerve growth factor receptor binding (GO:0005163)|receptor signaling protein activity (GO:0005057)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	ACACACAGGCCGTATCTATCC	0.587																																						ENST00000369512.2		NA																	0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						c.(679-681)acG>acA		nerve growth factor (beta polypeptide)	Clenbuterol(DB01407)						71.0	75.0	73.0					1																	115828736		2203	4300	6503	SO:0001819	synonymous_variant	4803				activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|Golgi lumen	growth factor activity|nerve growth factor receptor binding	g.chr1:115828736C>T		CCDS882.1	1p13.1	2014-09-17	2008-02-07	2008-02-07	ENSG00000134259	ENSG00000134259		"""Endogenous ligands"""	7808	protein-coding gene	gene with protein product		162030		NGFB			Standard	XM_006710663		Approved		uc001efu.1	P01138	OTTHUMG00000011880	ENST00000369512.2:c.681G>A	1.37:g.115828736C>T		False	False		Somatic	0				RP4-663N10.1_ENST00000425449.1_RNA	p.T227T	NM_002506.2	NP_002497.2	WXS	Illumina HiSeq	Phase_I	P01138	NGF_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	3	849	-	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)	227					A1A4E5|Q6FHA0|Q96P60|Q9P2Q8|Q9UKL8	Silent	SNP	ENST00000369512.2	37	c.681G>A	CCDS882.1																																																																																				0.587	NGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032832.1	0	NM_002506		1:115828736
TP53	7157	broad.mit.edu	37	17	7577559	7577559	+	Missense_Mutation	SNP	G	G	T	rs397516437|rs28934573		TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr17:7577559G>T	ENST00000269305.4	-	7	911	c.722C>A	c.(721-723)tCc>tAc	p.S241Y	TP53_ENST00000359597.4_Missense_Mutation_p.S241Y|TP53_ENST00000455263.2_Missense_Mutation_p.S241Y|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.S241Y|TP53_ENST00000420246.2_Missense_Mutation_p.S241Y|TP53_ENST00000445888.2_Missense_Mutation_p.S241Y	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	241	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		S -> A (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|S -> C (in sporadic cancers; somatic mutation).|S -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934573). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228}.|S -> P (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).|S -> Y (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.S241F(85)|p.S241C(26)|p.0?(8)|p.S241Y(8)|p.C242fs*5(6)|p.?(5)|p.S241del(5)|p.S148F(4)|p.N239_C242delNSSC(3)|p.N239_C242>S(1)|p.C238fs*21(1)|p.S241fs*22(1)|p.N239_C242del(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.S148C(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(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)	GCCCATGCAGGAACTGTTACA	0.572		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"""		160	Substitution - Missense(124)|Deletion - In frame(13)|Deletion - Frameshift(9)|Whole gene deletion(8)|Unknown(5)|Complex - deletion inframe(1)	p.S241F(85)|p.S241C(26)|p.0?(8)|p.S241Y(8)|p.C242fs*5(6)|p.?(5)|p.S241del(5)|p.S148F(4)|p.N239_C242delNSSC(3)|p.N239_C242>S(1)|p.C238fs*21(1)|p.S241fs*22(1)|p.N239_C242del(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.S148C(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)	urinary_tract(19)|large_intestine(18)|breast(17)|endometrium(15)|ovary(15)|lung(12)|skin(9)|biliary_tract(8)|central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(7)|upper_aerodigestive_tract(6)|stomach(6)|oesophagus(5)|bone(5)|liver(3)|pancreas(3)|eye(2)|thyroid(1)|kidney(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	CM920673	TP53	M	rs28934573	c.(721-723)tCc>tAc	Other conserved DNA damage response genes	tumor protein p53							139.0	108.0	118.0					17																	7577559		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.chr17:7577559G>T	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.722C>A	17.37:g.7577559G>T	ENSP00000269305:p.Ser241Tyr	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.S241Y|TP53_ENST00000455263.2_Missense_Mutation_p.S241Y|TP53_ENST00000445888.2_Missense_Mutation_p.S241Y|TP53_ENST00000413465.2_Missense_Mutation_p.S241Y|TP53_ENST00000269305.4_Missense_Mutation_p.S241Y	p.S241Y	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)	7	854	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	241		S -> A (in sporadic cancers; somatic mutation).|S -> C (in sporadic cancers; somatic mutation).|S -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934573).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		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.722C>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.341685	0.61073	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99857	-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22	4.62	3.64	0.41730	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.120078	0.56097	D	0.000022	D	0.99871	0.9939	M	0.92784	3.345	0.52501	D	0.999952	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.96551	0.9408	10	0.87932	D	0	-35.4617	12.8645	0.57932	0.0:0.1651:0.8349:0.0	.	241;241;148;241;241;241	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Y	241;241;241;241;241;241;230;148;109;148	ENSP00000410739:S241Y;ENSP00000352610:S241Y;ENSP00000269305:S241Y;ENSP00000398846:S241Y;ENSP00000391127:S241Y;ENSP00000391478:S241Y;ENSP00000425104:S109Y;ENSP00000423862:S148Y	ENSP00000269305:S241Y	S	-	2	0	TP53	7518284	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.346000	0.44027	1.295000	0.44724	0.462000	0.41574	TCC		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	0	NM_000546		17:7577559
POTEE	445582	broad.mit.edu	37	2	131984442	131984442	+	Missense_Mutation	SNP	A	A	C			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr2:131984442A>C	ENST00000356920.5	+	4	951	c.857A>C	c.(856-858)cAa>cCa	p.Q286P	PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.Q296P|RNU6-127P_ENST00000390897.1_RNA	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	286					retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											CAAAAACAGCAAGTCGTGAAA	0.328																																						ENST00000356920.5		NA																	0					NA						c.(856-858)cAa>cCa		POTE ankyrin domain family, member E							96.0	113.0	107.0					2																	131984442		1503	2704	4207	SO:0001583	missense	445582						ATP binding	g.chr2:131984442A>C	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33895	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 2"""	608914	"""ANKRD26-like family C, member 1A"""	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.857A>C	2.37:g.131984442A>C	ENSP00000439189:p.Gln286Pro	False	False		Somatic	0				PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.Q296P|PLEKHB2_ENST00000303908.3_Intron	p.Q286P	NM_001083538.1	NP_001077007.1	WXS	Illumina HiSeq	Phase_I	Q6S8J3	POTEE_HUMAN			4	951	+			286					Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	ENST00000356920.5	37	c.857A>C	CCDS46414.1	.	.	.	.	.	.	.	.	.	.	.	10.33	1.320219	0.23994	.	.	ENSG00000188219	ENST00000356920;ENST00000358087	T;T	0.63744	0.63;-0.06	1.16	1.16	0.20824	Ankyrin repeat-containing domain (4);	3.765040	0.01962	U	0.043420	T	0.60495	0.2273	L	0.33668	1.02	0.09310	N	1	D	0.63880	0.993	P	0.51355	0.667	T	0.51371	-0.8714	10	0.87932	D	0	.	4.5417	0.12061	1.0:0.0:0.0:0.0	.	286	Q6S8J3	POTEE_HUMAN	P	286;296	ENSP00000439189:Q286P;ENSP00000443049:Q296P	ENSP00000439189:Q286P	Q	+	2	0	AC131180.1	131700912	0.229000	0.23729	0.024000	0.17045	0.083000	0.17756	1.857000	0.39399	0.784000	0.33661	0.136000	0.15936	CAA		0.328	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0	NM_001083538		2:131984442
CYP1A1	1543	broad.mit.edu	37	15	75014944	75014944	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr15:75014944C>A	ENST00000379727.3	-	2	693	c.495G>T	c.(493-495)aaG>aaT	p.K165N	CYP1A1_ENST00000395048.2_Missense_Mutation_p.K165N|CYP1A1_ENST00000395049.4_Missense_Mutation_p.K165N|CYP1A1_ENST00000564596.1_Intron|CYP1A1_ENST00000567032.1_Missense_Mutation_p.K165N			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	165					9-cis-retinoic acid biosynthetic process (GO:0042904)|aging (GO:0007568)|amine metabolic process (GO:0009308)|arachidonic acid metabolic process (GO:0019369)|camera-type eye development (GO:0043010)|cell proliferation (GO:0008283)|cellular lipid metabolic process (GO:0044255)|cellular response to organic cyclic compound (GO:0071407)|coumarin metabolic process (GO:0009804)|dibenzo-p-dioxin catabolic process (GO:0019341)|digestive tract development (GO:0048565)|drug metabolic process (GO:0017144)|embryo development ending in birth or egg hatching (GO:0009792)|epoxygenase P450 pathway (GO:0019373)|flavonoid metabolic process (GO:0009812)|hepatocyte differentiation (GO:0070365)|hydrogen peroxide biosynthetic process (GO:0050665)|insecticide metabolic process (GO:0017143)|maternal process involved in parturition (GO:0060137)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|response to antibiotic (GO:0046677)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to food (GO:0032094)|response to herbicide (GO:0009635)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to iron(III) ion (GO:0010041)|response to lipopolysaccharide (GO:0032496)|response to nematode (GO:0009624)|response to virus (GO:0009615)|response to vitamin A (GO:0033189)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|demethylase activity (GO:0032451)|flavonoid 3'-monooxygenase activity (GO:0016711)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on diphenols and related substances as donors (GO:0016679)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)|vitamin D 24-hydroxylase activity (GO:0070576)			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Acetaminophen(DB00316)|Albendazole(DB00518)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Arsenic trioxide(DB01169)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Caffeine(DB00201)|Carvedilol(DB01136)|Chloroquine(DB00608)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Clenbuterol(DB01407)|Clobetasol propionate(DB01013)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonidine(DB00575)|Clozapine(DB00363)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Dexamethasone(DB01234)|Dexmedetomidine(DB00633)|Diclofenac(DB00586)|Dicyclomine(DB00804)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Ethanol(DB00898)|Flunarizine(DB04841)|Fluorescein(DB00693)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Granisetron(DB00889)|Haloperidol(DB00502)|Isoprenaline(DB01064)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lorcaserin(DB04871)|Mebendazole(DB00643)|Melatonin(DB01065)|Menadione(DB00170)|Methoxsalen(DB00553)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitroprusside(DB00325)|Norfloxacin(DB01059)|Omeprazole(DB00338)|Ouabain(DB01092)|Oxaliplatin(DB00526)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Prazosin(DB00457)|Primaquine(DB01087)|Progesterone(DB00396)|Propofol(DB00818)|Propranolol(DB00571)|Pyridoxine(DB00165)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Riluzole(DB00740)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiabendazole(DB00730)|Ticlopidine(DB00208)|Toremifene(DB00539)|Tretinoin(DB00755)|Vitamin A(DB00162)|Warfarin(DB00682)	CCTCAGCCTCCTTGCTCACAT	0.572									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia																													ENST00000379727.3		NA																	0				autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(493-495)aaG>aaT		cytochrome P450, family 1, subfamily A, polypeptide 1	Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)						79.0	76.0	77.0					15																	75014944		2197	4296	6493	SO:0001583	missense	1543	Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia	Familial Cancer Database	;AIMAH, Cushing disease, Adrenal, Familial	cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity	g.chr15:75014944C>A	BC023019	CCDS10268.1	15q24.1	2007-12-14	2003-01-14		ENSG00000140465	ENSG00000140465	1.14.14.1	"""Cytochrome P450s"""	2595	protein-coding gene	gene with protein product		108330	"""cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 1"""	CYP1		15128046	Standard	NM_000499		Approved	P450DX, P1-450, P450-C, CP11	uc002ayp.4	P04798	OTTHUMG00000142812	ENST00000379727.3:c.495G>T	15.37:g.75014944C>A	ENSP00000369050:p.Lys165Asn	False	False		Somatic	0				CYP1A1_ENST00000395048.2_Missense_Mutation_p.K165N|CYP1A1_ENST00000564596.1_Intron|CYP1A1_ENST00000567032.1_Missense_Mutation_p.K165N|CYP1A1_ENST00000395049.4_Missense_Mutation_p.K165N	p.K165N			WXS	Illumina HiSeq	Phase_I	P04798	CP1A1_HUMAN			2	693	-			165					A4F3V9|A4F3W0|Q53G18	Missense_Mutation	SNP	ENST00000379727.3	37	c.495G>T	CCDS10268.1	.	.	.	.	.	.	.	.	.	.	C	11.24	1.580074	0.28180	.	.	ENSG00000140465	ENST00000379727;ENST00000395048;ENST00000395049;ENST00000268062	T;T;T	0.69561	-0.41;-0.41;-0.41	4.91	-1.8	0.07907	.	0.245514	0.46758	D	0.000263	T	0.63486	0.2515	M	0.77712	2.385	0.42656	D	0.993469	B;B	0.30664	0.289;0.171	B;B	0.40477	0.33;0.22	T	0.55023	-0.8205	10	0.52906	T	0.07	.	2.396	0.04390	0.1025:0.3183:0.1675:0.4117	.	165;165	E7EMT5;P04798	.;CP1A1_HUMAN	N	165	ENSP00000369050:K165N;ENSP00000378488:K165N;ENSP00000378489:K165N	ENSP00000268062:K165N	K	-	3	2	CYP1A1	72801997	0.191000	0.23288	0.983000	0.44433	0.772000	0.43724	-0.386000	0.07370	-0.412000	0.07519	-0.379000	0.06801	AAG		0.572	CYP1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286396.1	0	NM_000499		15:75014944
C16orf45	89927	broad.mit.edu	37	16	15677014	15677014	+	Splice_Site	SNP	G	G	C			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr16:15677014G>C	ENST00000300006.4	+	5	780	c.421G>C	c.(421-423)Gag>Cag	p.E141Q	C16orf45_ENST00000561692.1_Splice_Site_p.E93Q|C16orf45_ENST00000452191.2_Splice_Site_p.E124Q|C16orf45_ENST00000566490.1_Intron|C16orf45_ENST00000565913.1_3'UTR	NM_033201.2	NP_149978.1	Q96MC5	CP045_HUMAN	chromosome 16 open reading frame 45	141										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)	11						CTTTCACAGGGAGCAAGAAGA	0.378																																						ENST00000300006.4		NA																	0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)	11						c.(421-423)Gag>Cag		chromosome 16 open reading frame 45							122.0	120.0	121.0					16																	15677014		2197	4300	6497	SO:0001630	splice_region_variant	89927							g.chr16:15677014G>C	AK057180	CCDS10561.1, CCDS45422.1	16p13.2	2012-10-09			ENSG00000166780	ENSG00000166780			19213	protein-coding gene	gene with protein product							Standard	NM_033201		Approved	FLJ32618	uc002ddo.3	Q96MC5	OTTHUMG00000129883	ENST00000300006.4:c.420-1G>C	16.37:g.15677014G>C		True	False		Somatic	0				C16orf45_ENST00000565913.1_3'UTR|C16orf45_ENST00000452191.2_Splice_Site_p.E124Q|C16orf45_ENST00000561692.1_Splice_Site_p.E93Q|C16orf45_ENST00000566490.1_Intron	p.E141Q	NM_033201.2	NP_149978.1	WXS	Illumina HiSeq	Phase_I	Q96MC5	CP045_HUMAN			5	780	+			141					O00223|O75769|Q8IZ36|Q96H25	Splice_Site	SNP	ENST00000300006.4	37	c.421G>C	CCDS10561.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.921388	0.92249	.	.	ENSG00000166780	ENST00000300006;ENST00000452191	T;T	0.59224	0.28;0.28	5.27	5.27	0.74061	Domain of unknown function DUF3585 (1);	0.000000	0.85682	D	0.000000	T	0.79082	0.4386	M	0.84082	2.675	0.58432	D	0.999999	D;D	0.76494	0.997;0.999	D;D	0.83275	0.995;0.996	T	0.82452	-0.0450	10	0.87932	D	0	-19.9858	18.4883	0.90838	0.0:0.0:1.0:0.0	.	85;141	B4DE25;Q96MC5	.;CP045_HUMAN	Q	141;124	ENSP00000300006:E141Q;ENSP00000408976:E124Q	ENSP00000300006:E141Q	E	+	1	0	C16orf45	15584515	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	8.318000	0.89990	2.434000	0.82447	0.650000	0.86243	GAG		0.378	C16orf45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252130.2	0	NM_033201	Missense_Mutation	16:15677014
ARHGAP19	84986	broad.mit.edu	37	10	99024599	99024599	+	Silent	SNP	A	A	T			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr10:99024599A>T	ENST00000358531.4	-	3	415	c.387T>A	c.(385-387)atT>atA	p.I129I	ARHGAP19_ENST00000355366.5_Silent_p.I120I|ARHGAP19_ENST00000371027.1_Silent_p.I120I|ARHGAP19-SLIT1_ENST00000358308.3_Silent_p.I129I|ARHGAP19-SLIT1_ENST00000316676.8_Silent_p.I129I|ARHGAP19-SLIT1_ENST00000453547.2_Silent_p.I129I	NM_001204300.1|NM_032900.5	NP_001191229.1|NP_116289.4	Q14CB8	RHG19_HUMAN	Rho GTPase activating protein 19	129	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|urinary_tract(1)	13		Colorectal(252;0.0854)		Epithelial(162;7.65e-09)|all cancers(201;4.49e-07)		GTAGATACTCAATCAGTTGGT	0.368																																						ENST00000453547.2		NA																	0					NA						c.(385-387)atT>atA									97.0	95.0	96.0					10																	99024599		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr10:99024599A>T	AK074122	CCDS7454.2, CCDS58092.1, CCDS73175.1	10q24.2	2011-06-29			ENSG00000213390	ENSG00000213390		"""Rho GTPase activating proteins"""	23724	protein-coding gene	gene with protein product		611587					Standard	NM_032900		Approved	FLJ00194, MGC14258	uc001knb.3	Q14CB8	OTTHUMG00000018845	ENST00000358531.4:c.387T>A	10.37:g.99024599A>T		False	False		Somatic	0				ARHGAP19-SLIT1_ENST00000358308.3_Silent_p.I129I|ARHGAP19_ENST00000355366.5_Silent_p.I120I|ARHGAP19_ENST00000371027.1_Silent_p.I120I|ARHGAP19-SLIT1_ENST00000316676.8_Silent_p.I129I|ARHGAP19_ENST00000358531.4_Silent_p.I129I	p.I129I			WXS	Illumina HiSeq	Phase_I					3	386	-			NA					A1XCP1|B4DZR1|Q14CF2|Q5J8M2|Q5T460|Q5T462|Q68DG6|Q8N9X1|Q8NF34|Q8TEK1	Silent	SNP	ENST00000358531.4	37	c.387T>A	CCDS7454.2																																																																																				0.368	ARHGAP19-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049647.2	0	NM_032900		10:99024599
FLG	2312	broad.mit.edu	37	1	152275642	152275642	+	Missense_Mutation	SNP	C	C	T	rs554551056		TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr1:152275642C>T	ENST00000368799.1	-	3	11755	c.11720G>A	c.(11719-11721)cGc>cAc	p.R3907H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3907	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCTGTATCGCGGTGAGAGGA	0.502									Ichthyosis				C|||	1	0.000199681	0.0008	0.0	5008	,	,		21058	0.0		0.0	False		,,,				2504	0.0					ENST00000368799.1		NA																	0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(11719-11721)cGc>cAc		filaggrin							96.0	96.0	96.0					1																	152275642		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152275642C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.11720G>A	1.37:g.152275642C>T	ENSP00000357789:p.Arg3907His	False	False		Somatic	0				FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.R3907H	NM_002016.1	NP_002007.1	WXS	Illumina HiSeq	Phase_I	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	11755	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3907			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.11720G>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	3.195	-0.164938	0.06502	.	.	ENSG00000143631	ENST00000368799	T	0.01705	4.68	2.27	-4.54	0.03452	.	.	.	.	.	T	0.00210	0.0006	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42120	-0.9470	9	0.39692	T	0.17	.	4.5721	0.12216	0.1364:0.5422:0.1378:0.1835	.	3907	P20930	FILA_HUMAN	H	3907	ENSP00000357789:R3907H	ENSP00000357789:R3907H	R	-	2	0	FLG	150542266	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	-0.243000	0.08915	-3.346000	0.00182	-3.949000	0.00015	CGC		0.502	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	0	NM_002016		1:152275642
ERI1	90459	broad.mit.edu	37	8	8875864	8875864	+	Missense_Mutation	SNP	A	A	T			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr8:8875864A>T	ENST00000523898.1	+	6	1319	c.640A>T	c.(640-642)Atg>Ttg	p.M214L	ERI1_ENST00000250263.7_Missense_Mutation_p.M214L|ERI1_ENST00000520332.1_3'UTR|ERI1_ENST00000519292.1_Missense_Mutation_p.M214L			Q8IV48	ERI1_HUMAN	exoribonuclease 1	214	Exonuclease.				gene silencing by RNA (GO:0031047)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|rRNA 3'-end processing (GO:0031125)	cytoplasm (GO:0005737)|histone pre-mRNA 3'end processing complex (GO:0071204)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|histone pre-mRNA stem-loop binding (GO:0071207)|metal ion binding (GO:0046872)|ribosome binding (GO:0043022)|rRNA binding (GO:0019843)			NS(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11						AATTGACTGGATGAAATTGAA	0.308																																						ENST00000523898.1		NA																	0				NS(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11						c.(640-642)Atg>Ttg		exoribonuclease 1	Adenosine monophosphate(DB00131)						53.0	56.0	55.0					8																	8875864		2203	4299	6502	SO:0001583	missense	90459				gene silencing by RNA|rRNA 3'-end processing	cytoplasm|histone pre-mRNA 3'end processing complex|nucleolus	3'-5' exonuclease activity|histone pre-mRNA stem-loop binding|metal ion binding|ribosome binding|rRNA binding	g.chr8:8875864A>T	BC035279	CCDS5972.1	8p23.1	2008-12-16	2008-12-16	2008-12-16	ENSG00000104626	ENSG00000104626		"""Enhanced RNAi three prime mRNA exonucleases"""	23994	protein-coding gene	gene with protein product	"""exoribonuclease 1"", ""enhanced RNAi three prime mRNA exonuclease homolog 1 (C.elegans)"""	608739	"""three prime histone mRNA exonuclease 1"""	THEX1		14536070	Standard	NM_153332		Approved	3'HEXO	uc003wsk.2	Q8IV48	OTTHUMG00000129328	ENST00000523898.1:c.640A>T	8.37:g.8875864A>T	ENSP00000429615:p.Met214Leu	False	False		Somatic	0				ERI1_ENST00000519292.1_Missense_Mutation_p.M214L|ERI1_ENST00000520332.1_3'UTR|ERI1_ENST00000250263.7_Missense_Mutation_p.M214L	p.M214L			WXS	Illumina HiSeq	Phase_I	Q8IV48	ERI1_HUMAN			6	1319	+			214			Exonuclease.		A8K4U7|Q9NSX3	Missense_Mutation	SNP	ENST00000523898.1	37	c.640A>T	CCDS5972.1	.	.	.	.	.	.	.	.	.	.	A	9.693	1.152316	0.21371	.	.	ENSG00000104626	ENST00000523898;ENST00000250263;ENST00000519292	T;T;T	0.32753	1.44;1.44;1.44	5.83	5.83	0.93111	Exonuclease (1);Exonuclease, RNase T/DNA polymerase III (1);Ribonuclease H-like (1);	0.040723	0.85682	D	0.000000	T	0.11495	0.0280	N	0.01446	-0.86	0.80722	D	1	B	0.11235	0.004	B	0.16289	0.015	T	0.18681	-1.0329	10	0.02654	T	1	-25.2268	15.3806	0.74651	1.0:0.0:0.0:0.0	.	214	Q8IV48	ERI1_HUMAN	L	214	ENSP00000429615:M214L;ENSP00000250263:M214L;ENSP00000430190:M214L	ENSP00000250263:M214L	M	+	1	0	ERI1	8913274	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.856000	0.69518	2.220000	0.72140	0.459000	0.35465	ATG		0.308	ERI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251471.2	0	NM_153332		8:8875864
SHANK1	50944	broad.mit.edu	37	19	51200361	51200361	+	Silent	SNP	G	G	A			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr19:51200361G>A	ENST00000293441.1	-	14	1974	c.1956C>T	c.(1954-1956)ggC>ggT	p.G652G	SHANK1_ENST00000391814.1_Silent_p.G652G|SHANK1_ENST00000359082.3_Intron	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	652					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		ACCTCCCTGGGCCAATCCCAT	0.647																																						ENST00000293441.1		NA																	0				breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64						c.(1954-1956)ggC>ggT		SH3 and multiple ankyrin repeat domains 1							110.0	97.0	101.0					19																	51200361		2203	4300	6503	SO:0001819	synonymous_variant	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51200361G>A	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.1956C>T	19.37:g.51200361G>A		True	False		Somatic	0				SHANK1_ENST00000359082.3_Intron|SHANK1_ENST00000391814.1_Silent_p.G652G	p.G652G	NM_016148.2	NP_057232.2	WXS	Illumina HiSeq	Phase_I	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	14	1974	-		all_neural(266;0.057)	652					A8MXP5|B7WNY6|Q9NYW9	Silent	SNP	ENST00000293441.1	37	c.1956C>T	CCDS12799.1																																																																																				0.647	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	0	NM_016148		19:51200361
SDK2	54549	broad.mit.edu	37	17	71381998	71381998	+	Silent	SNP	T	T	A			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr17:71381998T>A	ENST00000392650.3	-	32	4557	c.4557A>T	c.(4555-4557)ctA>ctT	p.L1519L	SDK2_ENST00000388726.3_Silent_p.L1519L	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1519	Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GCCATCGGATTAGCACGGAGG	0.647																																						ENST00000392650.3		NA																	0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						c.(4555-4557)ctA>ctT		sidekick cell adhesion molecule 2							73.0	62.0	66.0					17																	71381998		2203	4299	6502	SO:0001819	synonymous_variant	54549				cell adhesion	integral to membrane		g.chr17:71381998T>A	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.4557A>T	17.37:g.71381998T>A		False	False		Somatic	0				SDK2_ENST00000388726.3_Silent_p.L1519L	p.L1519L	NM_001144952.1	NP_001138424.1	WXS	Illumina HiSeq	Phase_I	Q58EX2	SDK2_HUMAN			32	4557	-			1519			Fibronectin type-III 10.		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Silent	SNP	ENST00000392650.3	37	c.4557A>T	CCDS45769.1																																																																																				0.647	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	0	NM_019064		17:71381998
GRB14	2888	broad.mit.edu	37	2	165353909	165353909	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr2:165353909G>A	ENST00000263915.3	-	10	1734	c.1196C>T	c.(1195-1197)gCg>gTg	p.A399V	GRB14_ENST00000543549.1_Missense_Mutation_p.A312V|GRB14_ENST00000497306.1_5'Flank	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	399					blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						TTCTTCAACCGCAACTGAAAG	0.393																																						ENST00000263915.3		NA																	0				breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(1195-1197)gCg>gTg		growth factor receptor-bound protein 14							98.0	100.0	99.0					2																	165353909		2203	4300	6503	SO:0001583	missense	2888				blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity	g.chr2:165353909G>A		CCDS2222.1	2q22-q24	2013-02-14			ENSG00000115290	ENSG00000115290		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4565	protein-coding gene	gene with protein product		601524				8812444	Standard	XM_005246477		Approved		uc002ucl.3	Q14449	OTTHUMG00000132135	ENST00000263915.3:c.1196C>T	2.37:g.165353909G>A	ENSP00000263915:p.Ala399Val	False	False		Somatic	0				GRB14_ENST00000543549.1_Missense_Mutation_p.A312V	p.A399V	NM_004490.2	NP_004481.2	WXS	Illumina HiSeq	Phase_I	Q14449	GRB14_HUMAN			10	1734	-			399					B7Z7F9|Q7Z6I1	Missense_Mutation	SNP	ENST00000263915.3	37	c.1196C>T	CCDS2222.1	.	.	.	.	.	.	.	.	.	.	G	34	5.400675	0.96030	.	.	ENSG00000115290	ENST00000263915;ENST00000543549;ENST00000446413	T;T;T	0.39229	1.67;1.75;1.09	5.81	5.81	0.92471	BPS (Between PH and SH2) domain (1);	0.000000	0.85682	D	0.000000	T	0.67116	0.2859	M	0.79475	2.455	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.67900	0.954;0.954	T	0.68051	-0.5511	10	0.59425	D	0.04	-15.2997	20.0825	0.97783	0.0:0.0:1.0:0.0	.	312;399	B7Z7F9;Q14449	.;GRB14_HUMAN	V	399;312;354	ENSP00000263915:A399V;ENSP00000443699:A312V;ENSP00000416786:A354V	ENSP00000263915:A399V	A	-	2	0	GRB14	165062155	1.000000	0.71417	0.996000	0.52242	0.875000	0.50365	9.869000	0.99810	2.746000	0.94184	0.655000	0.94253	GCG		0.393	GRB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255180.2	0			2:165353909
SLC4A1	6521	broad.mit.edu	37	17	42336630	42336630	+	Silent	SNP	C	C	T			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr17:42336630C>T	ENST00000262418.6	-	9	932	c.777G>A	c.(775-777)ccG>ccA	p.P259P	AC003043.1_ENST00000597382.1_Intron|SLC4A1_ENST00000471005.1_5'Flank	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1 (Diego blood group)	259	Globular.				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular ion homeostasis (GO:0006873)|chloride transport (GO:0006821)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cortical cytoskeleton (GO:0030863)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	anion transmembrane transporter activity (GO:0008509)|anion:anion antiporter activity (GO:0015301)|ankyrin binding (GO:0030506)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)	p.P259P(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GTATAGGCACCGGCAGCTCCA	0.652																																						ENST00000262418.6		NA																	1	Substitution - coding silent(1)	p.P259P(1)	lung(1)	central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40						c.(775-777)ccG>ccA		solute carrier family 4 (anion exchanger), member 1							32.0	34.0	33.0					17																	42336630		2203	4300	6503	SO:0001819	synonymous_variant	6521				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity	g.chr17:42336630C>T		CCDS11481.1	17q21.31	2014-07-19	2014-01-02		ENSG00000004939	ENSG00000004939		"""CD molecules"", ""Blood group antigens"", ""Solute carriers"""	11027	protein-coding gene	gene with protein product	"""Froese blood group"", ""Swann blood group"", ""Wright blood group"""	109270	"""Waldner blood group"", ""erythrocyte membrane protein band 3"", ""Diego blood group"", ""solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)"", ""solute carrier family 4 (anion exchanger), member 1"""	EPB3, AE1, DI, WD		8434259	Standard	NM_000342		Approved	RTA1A, CD233, FR, SW, WR	uc002igf.4	P02730	OTTHUMG00000156843	ENST00000262418.6:c.777G>A	17.37:g.42336630C>T		False	False		Somatic	0				AC003043.1_ENST00000597382.1_Intron	p.P259P	NM_000342.3	NP_000333.1	WXS	Illumina HiSeq	Phase_I	P02730	B3AT_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.115)	9	932	-		Breast(137;0.014)|Prostate(33;0.0181)	259					G4V2I6|P78487|Q1ZZ45|Q4KKW9|Q4VB84|Q9UCY7|Q9UDJ1	Silent	SNP	ENST00000262418.6	37	c.777G>A	CCDS11481.1																																																																																				0.652	SLC4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346194.1	0	NM_000342		17:42336630
STON1	11037	broad.mit.edu	37	2	48808480	48808480	+	Silent	SNP	C	C	T			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr2:48808480C>T	ENST00000406226.1	+	3	903	c.708C>T	c.(706-708)ctC>ctT	p.L236L	STON1-GTF2A1L_ENST00000405008.1_Silent_p.L236L|STON1_ENST00000404752.1_Silent_p.L236L|STON1-GTF2A1L_ENST00000394754.1_Silent_p.L236L|STON1-GTF2A1L_ENST00000309827.2_Silent_p.L236L|STON1-GTF2A1L_ENST00000402114.2_Silent_p.L236L|STON1-GTF2A1L_ENST00000394751.3_Silent_p.L236L|STON1_ENST00000309835.3_Silent_p.L236L	NM_001198595.1	NP_001185524.1	Q9Y6Q2	STON1_HUMAN	stonin 1	236					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)	clathrin adaptor complex (GO:0030131)				NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTGAACATCTCCAGTCAGCTG	0.413																																						ENST00000309835.3		NA																	0				NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37						c.(706-708)ctC>ctT		stonin 1							86.0	79.0	82.0					2																	48808480		2203	4300	6503	SO:0001819	synonymous_variant	11037							g.chr2:48808480C>T	AF026169	CCDS1841.1	2p16.3	2008-02-05			ENSG00000243244	ENSG00000243244			17003	protein-coding gene	gene with protein product	"""stoned B homolog 1 (Drosophila)"""	605357				14504226, 10364255	Standard	NM_001198595		Approved	SBLF, stoned-b1		Q9Y6Q2	OTTHUMG00000129169	ENST00000406226.1:c.708C>T	2.37:g.48808480C>T		False	False		Somatic	0				STON1-GTF2A1L_ENST00000394754.1_Silent_p.L236L|STON1-GTF2A1L_ENST00000309827.2_Silent_p.L236L|STON1-GTF2A1L_ENST00000402114.2_Silent_p.L236L|STON1-GTF2A1L_ENST00000394751.3_Silent_p.L236L|STON1-GTF2A1L_ENST00000405008.1_Silent_p.L236L|STON1_ENST00000404752.1_Silent_p.L236L|STON1_ENST00000406226.1_Silent_p.L236L	p.L236L			WXS	Illumina HiSeq	Phase_I			Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		1	718	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	NA					A8MXJ1|B5MCF5|B7ZL16|Q96JE3|Q9BYX3	Silent	SNP	ENST00000406226.1	37	c.708C>T	CCDS1841.1																																																																																				0.413	STON1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323848.2	0	NM_006873		2:48808480
SLC12A2	6558	broad.mit.edu	37	5	127488461	127488461	+	Missense_Mutation	SNP	G	G	A	rs373411636		TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr5:127488461G>A	ENST00000262461.2	+	15	2516	c.2327G>A	c.(2326-2328)cGt>cAt	p.R776H	SLC12A2_ENST00000343225.4_Missense_Mutation_p.R776H	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	776					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|branching involved in mammary gland duct morphogenesis (GO:0060444)|chloride transmembrane transport (GO:1902476)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|gamma-aminobutyric acid signaling pathway (GO:0007214)|hyperosmotic response (GO:0006972)|ion transport (GO:0006811)|mammary duct terminal end bud growth (GO:0060763)|multicellular organism growth (GO:0035264)|positive regulation of cell volume (GO:0045795)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transepithelial ammonium transport (GO:0070634)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ammonium transmembrane transporter activity (GO:0008519)|sodium:potassium:chloride symporter activity (GO:0008511)			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)|Quinethazone(DB01325)	CATTCAATTCGTCTTTCTGGA	0.413																																						ENST00000262461.2		NA																	0				breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(2326-2328)cGt>cAt		solute carrier family 12 (sodium/potassium/chloride transporter), member 2	Bumetanide(DB00887)|Potassium Chloride(DB00761)	G	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	121.0	114.0	117.0		2327	5.3	1.0	5		117	0,8600		0,0,4300	no	missense	SLC12A2	NM_001046.2	29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	776/1213	127488461	2,13004	2203	4300	6503	SO:0001583	missense	6558				potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity	g.chr5:127488461G>A		CCDS4144.1, CCDS58965.1	5q23.3	2014-06-13	2013-07-18		ENSG00000064651	ENSG00000064651		"""Solute carriers"""	10911	protein-coding gene	gene with protein product	"""bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1"", ""basolateral Na-K-Cl symporter"", ""protein phosphatase 1, regulatory subunit 141"""	600840				7629105	Standard	NM_001256461		Approved	NKCC1, BSC, BSC2, PPP1R141	uc003kus.3	P55011	OTTHUMG00000128983	ENST00000262461.2:c.2327G>A	5.37:g.127488461G>A	ENSP00000262461:p.Arg776His	False	False		Somatic	0				SLC12A2_ENST00000343225.4_Missense_Mutation_p.R776H	p.R776H	NM_001046.2	NP_001037.1	WXS	Illumina HiSeq	Phase_I	P55011	S12A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	15	2516	+		all_cancers(142;0.0972)|Prostate(80;0.151)	776					Q8N713|Q8WWH7	Missense_Mutation	SNP	ENST00000262461.2	37	c.2327G>A	CCDS4144.1	.	.	.	.	.	.	.	.	.	.	G	16.25	3.070173	0.55539	4.54E-4	0.0	ENSG00000064651	ENST00000262461;ENST00000343225	D;D	0.98792	-5.14;-5.14	5.27	5.27	0.74061	Amino acid permease domain (1);	0.215343	0.46758	D	0.000270	D	0.97383	0.9144	L	0.56199	1.76	0.58432	D	0.999999	B;B	0.19445	0.029;0.036	B;B	0.19148	0.014;0.024	D	0.95103	0.8232	10	0.42905	T	0.14	.	19.0718	0.93140	0.0:0.0:1.0:0.0	.	776;776	P55011-3;P55011	.;S12A2_HUMAN	H	776	ENSP00000262461:R776H;ENSP00000340878:R776H	ENSP00000262461:R776H	R	+	2	0	SLC12A2	127516360	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.777000	0.55364	2.746000	0.94184	0.460000	0.39030	CGT		0.413	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250972.1	0	NM_001046		5:127488461
TMEM168	64418	broad.mit.edu	37	7	112407372	112407372	+	Silent	SNP	G	G	A	rs184128444		TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr7:112407372G>A	ENST00000312814.6	-	5	2534	c.1974C>T	c.(1972-1974)tgC>tgT	p.C658C	TMEM168_ENST00000454074.1_Silent_p.C658C	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	658						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						GGTTCAGACCGCATAACCAAT	0.433													g|||	1	0.000199681	0.0	0.0	5008	,	,		19914	0.0		0.001	False		,,,				2504	0.0					ENST00000312814.6		NA																	0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						c.(1972-1974)tgC>tgT		transmembrane protein 168							98.0	88.0	91.0					7																	112407372		2203	4299	6502	SO:0001819	synonymous_variant	64418					integral to membrane|transport vesicle		g.chr7:112407372G>A		CCDS5757.1	7q31.32	2006-08-08			ENSG00000146802	ENSG00000146802			25826	protein-coding gene	gene with protein product						12477932	Standard	XM_005250527		Approved	DKFZp564C012,FLJ13576	uc003vgn.3	Q9H0V1	OTTHUMG00000155188	ENST00000312814.6:c.1974C>T	7.37:g.112407372G>A		False	False		Somatic	0				TMEM168_ENST00000454074.1_Silent_p.C658C	p.C658C	NM_022484.4	NP_071929.3	WXS	Illumina HiSeq	Phase_I	Q9H0V1	TM168_HUMAN			5	2534	-			NA					A4D0T9|B4DDS0|Q8NEK4|Q9H8J2	Silent	SNP	ENST00000312814.6	37	c.1974C>T	CCDS5757.1																																																																																				0.433	TMEM168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338696.4	0	NM_022484		7:112407372
PKD1L2	114780	broad.mit.edu	37	16	81232548	81232548	+	RNA	SNP	C	C	G			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr16:81232548C>G	ENST00000525539.1	-	0	1261				PKD1L2_ENST00000337114.4_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GCGGTGCCTCCCAGGGCCCAT	0.567																																						ENST00000337114.4		NA																	0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44								polycystic kidney disease 1-like 2							159.0	161.0	161.0					16																	81232548		1975	4150	6125			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81232548C>G	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81232548C>G		True	False		Somatic	0				PKD1L2_ENST00000525539.1_RNA		NM_001076780.1	NP_001070248.1	WXS	Illumina HiSeq	Phase_I	Q7Z442	PK1L2_HUMAN			0	1261	-			NA					Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	RNA	SNP	ENST00000525539.1	37			.	.	.	.	.	.	.	.	.	.	C	13.41	2.229880	0.39399	.	.	ENSG00000166473	ENST00000337114	T	0.11495	2.77	5.25	4.31	0.51392	.	0.000000	0.85682	D	0.000000	T	0.33059	0.0850	.	.	.	0.29345	N	0.865728	P;D	0.89917	0.906;1.0	P;D	0.75020	0.81;0.985	T	0.25328	-1.0135	9	0.87932	D	0	-25.724	15.4173	0.74980	0.1403:0.8597:0.0:0.0	.	421;421	Q7Z442-3;Q7Z442	.;PK1L2_HUMAN	A	421	ENSP00000337397:G421A	ENSP00000337397:G421A	G	-	2	0	PKD1L2	79790049	0.983000	0.35010	0.253000	0.24343	0.069000	0.16628	3.157000	0.50716	1.237000	0.43756	-0.235000	0.12190	GGG		0.567	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2	0			16:81232548
PRAMEF11	440560	broad.mit.edu	37	1	12887282	12887282	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr1:12887282C>T	ENST00000535591.1	-	3	770	c.575G>A	c.(574-576)aGg>aAg	p.R192K		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	192					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						CTGAAGATTCCTCAAGTGGCC	0.498																																						ENST00000535591.1		NA																	0				NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						c.(574-576)aGg>aAg		PRAME family member 11																																				SO:0001583	missense	440560							g.chr1:12887282C>T	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.575G>A	1.37:g.12887282C>T	ENSP00000439551:p.Arg192Lys	False	False		Somatic	0					p.R192K	NM_001146344.1	NP_001139816.1	WXS	Illumina HiSeq	Phase_I	O60813	PRA11_HUMAN			3	770	-			192						Missense_Mutation	SNP	ENST00000535591.1	37	c.575G>A	CCDS53268.1	.	.	.	.	.	.	.	.	.	.	.	0.007	-1.936865	0.00484	.	.	ENSG00000204513	ENST00000535591;ENST00000331684;ENST00000437584	T;T	0.13657	2.57;2.57	1.48	-2.38	0.06622	.	0.968557	0.08552	N	0.928809	T	0.06188	0.0160	L	0.28192	0.835	0.09310	N	1	B	0.10296	0.003	B	0.17098	0.017	T	0.42258	-0.9462	10	0.02654	T	1	.	1.984	0.03433	0.2605:0.3194:0.0:0.4201	.	192	O60813	PRA11_HUMAN	K	192;233;192	ENSP00000439551:R192K;ENSP00000391839:R192K	ENSP00000328783:R233K	R	-	2	0	PRAMEF11	12809869	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.133000	0.00589	-0.748000	0.04753	-0.498000	0.04607	AGG		0.498	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0	XM_496341		1:12887282
LPHN2	23266	broad.mit.edu	37	1	82453016	82453016	+	Intron	SNP	T	T	C			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr1:82453016T>C	ENST00000370728.1	+	24	4270				LPHN2_ENST00000370727.1_Intron|LPHN2_ENST00000370721.1_Intron|LPHN2_ENST00000370715.1_Silent_p.Y1167Y|LPHN2_ENST00000359929.3_Intron|LPHN2_ENST00000271029.4_Intron|LPHN2_ENST00000370725.1_Intron|LPHN2_ENST00000335786.5_Intron|LPHN2_ENST00000370713.1_Intron|LPHN2_ENST00000370717.2_Intron|LPHN2_ENST00000370730.1_Intron|LPHN2_ENST00000394879.1_Intron|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370723.1_Intron|LPHN2_ENST00000319517.6_Intron			O95490	LPHN2_HUMAN	latrophilin 2						G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		AAGATTTATATCATTTAGAGG	0.303																																						ENST00000370715.1		NA																	0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119						c.(3499-3501)taT>taC		latrophilin 2							38.0	42.0	41.0					1																	82453016		874	1990	2864	SO:0001627	intron_variant	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82453016T>C	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.3625+303T>C	1.37:g.82453016T>C		False	False		Somatic	0				LPHN2_ENST00000271029.4_Intron|LPHN2_ENST00000370727.1_Intron|LPHN2_ENST00000394879.1_Intron|LPHN2_ENST00000370721.1_Intron|LPHN2_ENST00000335786.5_Intron|LPHN2_ENST00000319517.6_Intron|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370725.1_Intron|LPHN2_ENST00000359929.3_Intron|LPHN2_ENST00000370728.1_Intron|LPHN2_ENST00000370723.1_Intron|LPHN2_ENST00000370713.1_Intron|LPHN2_ENST00000370717.2_Intron|LPHN2_ENST00000370730.1_Intron	p.Y1167Y			WXS	Illumina HiSeq	Phase_I	O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	20	3717	+			0					A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Silent	SNP	ENST00000370728.1	37	c.3501T>C																																																																																					0.303	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	0	NM_012302		1:82453016
PSMB11	122706	broad.mit.edu	37	14	23511502	23511502	+	Missense_Mutation	SNP	G	G	C	rs201995713		TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr14:23511502G>C	ENST00000408907.2	+	1	127	c.68G>C	c.(67-69)cGg>cCg	p.R23P		NM_001099780.1	NP_001093250.1	A5LHX3	PSB11_HUMAN	proteasome (prosome, macropain) subunit, beta type, 11	23					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|proteasome core complex (GO:0005839)	threonine-type endopeptidase activity (GO:0004298)			endometrium(1)|kidney(2)|lung(4)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00643)		CACCTGCCTCGGGCTGGCGGC	0.637																																						ENST00000408907.2		NA																	0				endometrium(1)|kidney(2)|lung(4)	7						c.(67-69)cGg>cCg		proteasome (prosome, macropain) subunit, beta type, 11							67.0	79.0	75.0					14																	23511502		2088	4215	6303	SO:0001583	missense	122706				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity	g.chr14:23511502G>C		CCDS41923.1	14q11.2	2008-01-31				ENSG00000222028			31963	protein-coding gene	gene with protein product		611137				17540904	Standard	NM_001099780		Approved	beta5t	uc010ake.1	A5LHX3		ENST00000408907.2:c.68G>C	14.37:g.23511502G>C	ENSP00000386212:p.Arg23Pro	True	False		Somatic	0					p.R23P	NM_001099780.1	NP_001093250.1	WXS	Illumina HiSeq	Phase_I	A5LHX3	PSB11_HUMAN		GBM - Glioblastoma multiforme(265;0.00643)	1	127	+	all_cancers(95;3.3e-05)		23						Missense_Mutation	SNP	ENST00000408907.2	37	c.68G>C	CCDS41923.1	.	.	.	.	.	.	.	.	.	.	G	1.987	-0.432710	0.04669	.	.	ENSG00000222028	ENST00000408907	T	0.27890	1.64	5.53	-11.1	0.00147	.	1.913640	0.03285	N	0.186696	T	0.12774	0.0310	N	0.12961	0.28	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.08617	-1.0713	10	0.27082	T	0.32	-1.412	4.21	0.10507	0.2548:0.2667:0.3906:0.088	.	23	A5LHX3	PSB11_HUMAN	P	23	ENSP00000386212:R23P	ENSP00000386212:R23P	R	+	2	0	PSMB11	22581342	0.000000	0.05858	0.000000	0.03702	0.230000	0.25150	-2.830000	0.00744	-2.417000	0.00567	-1.044000	0.02363	CGG		0.637	PSMB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408294.1	0	NM_001099780		14:23511502
PPP1R3A	5506	broad.mit.edu	37	7	113518053	113518053	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr7:113518053C>G	ENST00000284601.3	-	4	3162	c.3094G>C	c.(3094-3096)Gta>Cta	p.V1032L		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	1032					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CCAGAGCTTACTAATCCTTCA	0.403																																						ENST00000284601.3		NA																	0				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						c.(3094-3096)Gta>Cta		protein phosphatase 1, regulatory subunit 3A							197.0	192.0	193.0					7																	113518053		2203	4299	6502	SO:0001583	missense	5506				glycogen metabolic process	integral to membrane		g.chr7:113518053C>G	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.3094G>C	7.37:g.113518053C>G	ENSP00000284601:p.Val1032Leu	False	False		Somatic	0					p.V1032L	NM_002711.3	NP_002702.2	WXS	Illumina HiSeq	Phase_I	Q16821	PPR3A_HUMAN			4	3162	-			1032					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	c.3094G>C	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	C	0.015	-1.552420	0.00918	.	.	ENSG00000154415	ENST00000284601	T	0.14391	2.51	5.71	-1.44	0.08856	.	0.595751	0.16550	N	0.209508	T	0.04861	0.0131	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28299	-1.0048	10	0.56958	D	0.05	0.0241	0.9691	0.01412	0.2108:0.1318:0.2531:0.4042	.	1032	Q16821	PPR3A_HUMAN	L	1032	ENSP00000284601:V1032L	ENSP00000284601:V1032L	V	-	1	0	PPP1R3A	113305289	0.002000	0.14202	0.000000	0.03702	0.120000	0.20174	-0.006000	0.12833	-0.436000	0.07254	-0.300000	0.09419	GTA		0.403	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	0	NM_002711		7:113518053
KIAA0319	9856	broad.mit.edu	37	6	24582552	24582552	+	Nonsense_Mutation	SNP	C	C	T			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr6:24582552C>T	ENST00000378214.3	-	6	1640	c.1116G>A	c.(1114-1116)tgG>tgA	p.W372*	KIAA0319_ENST00000543707.1_Nonsense_Mutation_p.W372*|KIAA0319_ENST00000430948.2_Nonsense_Mutation_p.W327*|KIAA0319_ENST00000535378.1_Nonsense_Mutation_p.W363*|KIAA0319_ENST00000537886.1_Nonsense_Mutation_p.W372*	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	372	PKD 1. {ECO:0000255|PROSITE- ProRule:PRU00151}.				negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						TTATTAAATTCCATTCATAGT	0.388																																						ENST00000535378.1		NA																	0				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						c.(1087-1089)tgG>tgA		KIAA0319							264.0	253.0	257.0					6																	24582552		2203	4300	6503	SO:0001587	stop_gained	9856				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding	g.chr6:24582552C>T	AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"""neuronal migration"""	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.1116G>A	6.37:g.24582552C>T	ENSP00000367459:p.Trp372*	False	False		Somatic	0				KIAA0319_ENST00000537886.1_Nonsense_Mutation_p.W372*|KIAA0319_ENST00000378214.3_Nonsense_Mutation_p.W372*|KIAA0319_ENST00000543707.1_Nonsense_Mutation_p.W372*|KIAA0319_ENST00000430948.2_Nonsense_Mutation_p.W327*	p.W363*	NM_001168374.1	NP_001161846.1	WXS	Illumina HiSeq	Phase_I	Q5VV43	K0319_HUMAN			7	1731	-			372			PKD 1.		A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Nonsense_Mutation	SNP	ENST00000378214.3	37	c.1089G>A	CCDS34348.1	.	.	.	.	.	.	.	.	.	.	C	39	7.560686	0.98358	.	.	ENSG00000137261	ENST00000537886;ENST00000535378;ENST00000430948;ENST00000378214;ENST00000543707	.	.	.	4.22	4.22	0.49857	.	0.084787	0.50627	D	0.000107	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.3723	16.7793	0.85559	0.0:1.0:0.0:0.0	.	.	.	.	X	372;363;327;372;372	.	ENSP00000367459:W372X	W	-	3	0	KIAA0319	24690531	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.029000	0.70895	2.156000	0.67533	0.484000	0.47621	TGG		0.388	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040009.1	0	NM_014809		6:24582552
PCDHGB7	56099	broad.mit.edu	37	5	140799066	140799066	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr5:140799066G>C	ENST00000398594.2	+	1	1640	c.1640G>C	c.(1639-1641)aGc>aCc	p.S547T	PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA11_ENST00000518882.1_5'Flank|PCDHGA11_ENST00000398587.2_5'Flank|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA9_ENST00000573521.1_Intron	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	547	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCAATGTGAGCCTGCGCGTG	0.711																																						ENST00000398594.2		NA																	0				central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56						c.(1639-1641)aGc>aCc									27.0	33.0	31.0					5																	140799066		2079	4193	6272	SO:0001583	missense	0							g.chr5:140799066G>C	AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122		"""Cadherins / Protocadherins : Clustered"""	8714	other	protocadherin	"""cadherin ME6"""	606304				10380929	Standard	NM_032101		Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.1640G>C	5.37:g.140799066G>C	ENSP00000381594:p.Ser547Thr	False	False		Somatic	0				PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron	p.S547T	NM_018927.3	NP_061750.1	WXS	Illumina HiSeq	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1640	+			NA					Q9UN63	Missense_Mutation	SNP	ENST00000398594.2	37	c.1640G>C	CCDS47293.1	.	.	.	.	.	.	.	.	.	.	g	8.119	0.780447	0.16120	.	.	ENSG00000254122	ENST00000398594	T	0.46819	0.86	5.38	4.49	0.54785	Cadherin (5);Cadherin-like (1);	0.234553	0.20219	U	0.096729	T	0.20170	0.0485	N	0.01424	-0.875	0.21325	N	0.999726	P;B	0.35107	0.484;0.208	B;B	0.38225	0.268;0.108	T	0.13845	-1.0494	10	0.16896	T	0.51	.	8.4342	0.32778	0.0:0.3785:0.4932:0.1283	.	547;547	Q9Y5F8;Q9Y5F8-2	PCDGJ_HUMAN;.	T	547	ENSP00000381594:S547T	ENSP00000381594:S547T	S	+	2	0	PCDHGB7	140779250	0.000000	0.05858	1.000000	0.80357	0.968000	0.65278	0.243000	0.18106	2.513000	0.84729	0.491000	0.48974	AGC		0.711	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376973.1	0	NM_018927		5:140799066
ADAMTS2	9509	broad.mit.edu	37	5	178585787	178585787	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr5:178585787C>T	ENST00000251582.7	-	6	1170	c.1069G>A	c.(1069-1071)Gat>Aat	p.D357N	ADAMTS2_ENST00000274609.5_Missense_Mutation_p.D357N	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	357	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		TGGTATTCATCGTGGCCCGTG	0.612																																						ENST00000251582.7		NA																	0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72						c.(1069-1071)Gat>Aat		ADAM metallopeptidase with thrombospondin type 1 motif, 2							151.0	130.0	137.0					5																	178585787		2203	4300	6503	SO:0001583	missense	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178585787C>T	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.1069G>A	5.37:g.178585787C>T	ENSP00000251582:p.Asp357Asn	False	False		Somatic	0				ADAMTS2_ENST00000274609.5_Missense_Mutation_p.D357N	p.D357N	NM_014244.4	NP_055059.2	WXS	Illumina HiSeq	Phase_I	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	6	1170	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	357			Peptidase M12B.			Missense_Mutation	SNP	ENST00000251582.7	37	c.1069G>A	CCDS4444.1	.	.	.	.	.	.	.	.	.	.	C	11.91	1.780745	0.31502	.	.	ENSG00000087116	ENST00000251582;ENST00000274609	T;T	0.62788	0.0;0.0	5.73	5.73	0.89815	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.373747	0.22328	N	0.061514	T	0.51686	0.1689	L	0.31476	0.935	0.41488	D	0.988209	D;P	0.56035	0.974;0.874	B;B	0.39503	0.301;0.254	T	0.54200	-0.8329	10	0.35671	T	0.21	.	18.8826	0.92362	0.0:1.0:0.0:0.0	.	357;357	O95450-2;O95450	.;ATS2_HUMAN	N	357	ENSP00000251582:D357N;ENSP00000274609:D357N	ENSP00000251582:D357N	D	-	1	0	ADAMTS2	178518393	1.000000	0.71417	0.556000	0.28293	0.068000	0.16541	5.858000	0.69532	2.695000	0.91970	0.650000	0.86243	GAT		0.612	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	0	NM_014244		5:178585787
CDR2	1039	broad.mit.edu	37	16	22385600	22385600	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr16:22385600C>G	ENST00000268383.2	-	1	338	c.31G>C	c.(31-33)Gag>Cag	p.E11Q	RP11-21M24.2_ENST00000568827.1_RNA|RP11-21M24.2_ENST00000567158.1_RNA|CDR2_ENST00000569045.1_Intron	NM_001802.1	NP_001793.1	Q01850	CDR2_HUMAN	cerebellar degeneration-related protein 2, 62kDa	11						cytoplasm (GO:0005737)				endometrium(3)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(48;0.0188)		TCCTTCATCTCAAACTCCTCT	0.736																																						ENST00000268383.2		NA																	0				endometrium(3)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11						c.(31-33)Gag>Cag		cerebellar degeneration-related protein 2, 62kDa							53.0	55.0	55.0					16																	22385600		2197	4300	6497	SO:0001583	missense	1039					nucleus	protein binding	g.chr16:22385600C>G	M63256	CCDS32404.1	16p13.1-p12	2008-02-05	2002-08-29			ENSG00000140743			1799	protein-coding gene	gene with protein product	"""Yo paraneoplastic antigen"""	117340	"""cerebellar degeneration-related protein (62kD)"""			2014264	Standard	NM_001802		Approved	CDR62, Yo	uc002dkn.3	Q01850		ENST00000268383.2:c.31G>C	16.37:g.22385600C>G	ENSP00000268383:p.Glu11Gln	True	False		Somatic	0				CDR2_ENST00000569045.1_Intron	p.E11Q	NM_001802.1	NP_001793.1	WXS	Illumina HiSeq	Phase_I	Q01850	CDR2_HUMAN		GBM - Glioblastoma multiforme(48;0.0188)	1	338	-			11					A8K8A8|Q13977	Missense_Mutation	SNP	ENST00000268383.2	37	c.31G>C	CCDS32404.1	.	.	.	.	.	.	.	.	.	.	C	17.18	3.323911	0.60634	.	.	ENSG00000140743	ENST00000268383	T	0.30981	1.51	4.23	4.23	0.50019	.	0.055975	0.64402	U	0.000001	T	0.45538	0.1347	L	0.52364	1.645	0.50171	D	0.999852	D	0.71674	0.998	D	0.66351	0.943	T	0.28396	-1.0045	10	0.14656	T	0.56	-17.8946	16.6203	0.84928	0.0:1.0:0.0:0.0	.	11	Q01850	CDR2_HUMAN	Q	11	ENSP00000268383:E11Q	ENSP00000268383:E11Q	E	-	1	0	CDR2	22293101	1.000000	0.71417	0.998000	0.56505	0.952000	0.60782	4.673000	0.61604	1.899000	0.54978	0.462000	0.41574	GAG		0.736	CDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430081.1	0			16:22385600
PTDSS1	9791	broad.mit.edu	37	8	97342493	97342493	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr8:97342493A>G	ENST00000517309.1	+	11	1552	c.1226A>G	c.(1225-1227)tAt>tGt	p.Y409C	PTDSS1_ENST00000522072.1_Missense_Mutation_p.Y206C|PTDSS1_ENST00000455950.2_Missense_Mutation_p.Y263C	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	409					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	GCAGAACACTATGGTCACCGA	0.463																																						ENST00000517309.1		NA																	0				endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29						c.(1225-1227)tAt>tGt		phosphatidylserine synthase 1	Phosphatidylserine(DB00144)						129.0	113.0	119.0					8																	97342493		2203	4300	6503	SO:0001583	missense	9791				phosphatidylserine biosynthetic process	integral to membrane	transferase activity	g.chr8:97342493A>G	D14694	CCDS6271.1	8q22	2008-05-02			ENSG00000156471	ENSG00000156471			9587	protein-coding gene	gene with protein product		612792					Standard	NM_014754		Approved	KIAA0024, PSSA, PSS1	uc003yht.1	P48651	OTTHUMG00000164687	ENST00000517309.1:c.1226A>G	8.37:g.97342493A>G	ENSP00000430548:p.Tyr409Cys	False	False		Somatic	0				PTDSS1_ENST00000522072.1_Missense_Mutation_p.Y206C|PTDSS1_ENST00000455950.2_Missense_Mutation_p.Y263C	p.Y409C	NM_014754.1	NP_055569.1	WXS	Illumina HiSeq	Phase_I	P48651	PTSS1_HUMAN			11	1552	+	Breast(36;6.18e-05)		409					E5RFC5|Q9BUQ5	Missense_Mutation	SNP	ENST00000517309.1	37	c.1226A>G	CCDS6271.1	.	.	.	.	.	.	.	.	.	.	A	8.633	0.894173	0.17613	.	.	ENSG00000156471	ENST00000517309;ENST00000455950;ENST00000522072	T;T;T	0.46451	0.93;0.93;0.87	5.6	0.454	0.16644	.	0.185282	0.49916	N	0.000121	T	0.19005	0.0456	N	0.04959	-0.14	0.48185	D	0.999601	B	0.06786	0.001	B	0.06405	0.002	T	0.03922	-1.0992	10	0.38643	T	0.18	-3.7125	8.5488	0.33438	0.5948:0.0:0.4052:0.0	.	409	P48651	PTSS1_HUMAN	C	409;263;206	ENSP00000430548:Y409C;ENSP00000401248:Y263C;ENSP00000430928:Y206C	ENSP00000401248:Y263C	Y	+	2	0	PTDSS1	97411669	0.554000	0.26522	0.933000	0.37362	0.785000	0.44390	0.481000	0.22260	0.080000	0.16959	-0.411000	0.06167	TAT		0.463	PTDSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379743.2	0			8:97342493
ADAMTS12	81792	broad.mit.edu	37	5	33881302	33881302	+	Silent	SNP	G	G	A	rs200507261		TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr5:33881302G>A	ENST00000504830.1	-	2	746	c.411C>T	c.(409-411)ccC>ccT	p.P137P	ADAMTS12_ENST00000352040.3_Silent_p.P137P|ADAMTS12_ENST00000515401.1_Silent_p.P137P	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	137					cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GATGGCAGAGGGGGGCAGAGG	0.532										HNSCC(64;0.19)			G|||	1	0.000199681	0.0008	0.0	5008	,	,		19188	0.0		0.0	False		,,,				2504	0.0					ENST00000504830.1		NA																	0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						c.(409-411)ccC>ccT		ADAM metallopeptidase with thrombospondin type 1 motif, 12							66.0	65.0	65.0					5																	33881302		2203	4300	6503	SO:0001819	synonymous_variant	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33881302G>A	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.411C>T	5.37:g.33881302G>A		True	False	HNSCC(64;0.19)	Somatic	0				ADAMTS12_ENST00000352040.3_Silent_p.P137P|ADAMTS12_ENST00000515401.1_Silent_p.P137P	p.P137P	NM_030955.2	NP_112217.2	WXS	Illumina HiSeq	Phase_I	P58397	ATS12_HUMAN			2	746	-			137					A2RRN9|A5D6V6|Q6UWL3	Silent	SNP	ENST00000504830.1	37	c.411C>T	CCDS34140.1																																																																																				0.532	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	0	NM_030955		5:33881302
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_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_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_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
CREB5	9586	broad.mit.edu	37	7	28610110	28610110	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr7:28610110C>A	ENST00000357727.2	+	5	809	c.419C>A	c.(418-420)tCc>tAc	p.S140Y	CREB5_ENST00000409603.1_Missense_Mutation_p.S107Y|CREB5_ENST00000396300.2_Missense_Mutation_p.S133Y|CREB5_ENST00000396299.2_Missense_Mutation_p.S107Y	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	140					adipose tissue development (GO:0060612)|fat cell differentiation (GO:0045444)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						TCGCCTCAGTCCAGCTCTGTC	0.622																																						ENST00000357727.2		NA																	0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						c.(418-420)tCc>tAc		cAMP responsive element binding protein 5							116.0	100.0	105.0					7																	28610110		2203	4300	6503	SO:0001583	missense	9586				positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:28610110C>A	L05515	CCDS5417.1, CCDS5418.1, CCDS43562.1, CCDS43563.1	7p15	2013-01-10			ENSG00000146592	ENSG00000146592		"""basic leucine zipper proteins"""	16844	protein-coding gene	gene with protein product	"""cAMP response element binding protein CRE-Bpa"""					8378084, 8440710	Standard	XM_005249906		Approved	H_GS165L15.1, CRE-BPA	uc003szr.3	Q02930	OTTHUMG00000097081	ENST00000357727.2:c.419C>A	7.37:g.28610110C>A	ENSP00000350359:p.Ser140Tyr	False	False		Somatic	0				CREB5_ENST00000409603.1_Missense_Mutation_p.S107Y|CREB5_ENST00000396299.2_Missense_Mutation_p.S107Y|CREB5_ENST00000396300.2_Missense_Mutation_p.S133Y	p.S140Y	NM_182898.2	NP_878901.2	WXS	Illumina HiSeq	Phase_I	Q02930	CREB5_HUMAN			5	809	+			140					A8KA51|B4DU13|B5BUH3|C9JK47|Q05886|Q06246|Q75N02|Q86UJ9	Missense_Mutation	SNP	ENST00000357727.2	37	c.419C>A	CCDS5417.1	.	.	.	.	.	.	.	.	.	.	C	19.92	3.916836	0.73098	.	.	ENSG00000146592	ENST00000396299;ENST00000357727;ENST00000396300;ENST00000409603	T;T;T;T	0.66460	-0.21;-0.21;-0.2;-0.21	5.45	5.45	0.79879	.	0.100681	0.64402	D	0.000001	D	0.82318	0.5011	M	0.73962	2.25	0.80722	D	1	D	0.65815	0.995	D	0.72982	0.979	D	0.83827	0.0250	10	0.72032	D	0.01	-14.944	19.2936	0.94112	0.0:1.0:0.0:0.0	.	140	Q02930	CREB5_HUMAN	Y	107;140;133;107	ENSP00000379593:S107Y;ENSP00000350359:S140Y;ENSP00000379594:S133Y;ENSP00000387197:S107Y	ENSP00000350359:S140Y	S	+	2	0	CREB5	28576635	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	7.205000	0.77881	2.583000	0.87209	0.650000	0.86243	TCC		0.622	CREB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214204.4	0	NM_004904		7:28610110
DNMT3A	1788	broad.mit.edu	37	2	25468126	25468126	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr2:25468126C>G	ENST00000264709.3	-	13	1887	c.1550G>C	c.(1549-1551)tGc>tCc	p.C517S	DNMT3A_ENST00000321117.5_Missense_Mutation_p.C517S|DNMT3A_ENST00000380746.4_Missense_Mutation_p.C328S|DNMT3A_ENST00000402667.1_Missense_Mutation_p.C294S|DNMT3A_ENST00000474887.1_5'Flank	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	517	ADD. {ECO:0000255|PROSITE- ProRule:PRU00865}.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCTACCTTGCAGTTTTGGCA	0.597			"""Mis, F, N, S"""		AML																																	ENST00000264709.3		NA		Rec	yes		2	2p23	1788	"""Mis, F, N, S"""	DNA (cytosine-5-)-methyltransferase 3 alpha			L			AML		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021						c.(1549-1551)tGc>tCc		DNA (cytosine-5-)-methyltransferase 3 alpha							100.0	96.0	98.0					2																	25468126		2203	4300	6503	SO:0001583	missense	1788				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	g.chr2:25468126C>G		CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.1550G>C	2.37:g.25468126C>G	ENSP00000264709:p.Cys517Ser	False	False		Somatic	0				DNMT3A_ENST00000402667.1_Missense_Mutation_p.C294S|DNMT3A_ENST00000321117.5_Missense_Mutation_p.C517S|DNMT3A_ENST00000380746.4_Missense_Mutation_p.C328S	p.C517S	NM_175629.2	NP_783328.1	WXS	Illumina HiSeq	Phase_I	Q9Y6K1	DNM3A_HUMAN			13	1887	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		517			ADD.|Interaction with the PRC2/EED-EZH2 complex (By similarity).		E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	ENST00000264709.3	37	c.1550G>C	CCDS33157.1	.	.	.	.	.	.	.	.	.	.	C	31	5.078236	0.94000	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	T;T;T;T	0.32515	1.45;1.45;1.45;1.45	5.27	5.27	0.74061	.	0.095869	0.64402	D	0.000001	T	0.57932	0.2087	M	0.79258	2.445	0.80722	D	1	D;D	0.89917	1.0;0.994	D;D	0.97110	1.0;0.981	T	0.61048	-0.7141	10	0.72032	D	0.01	-8.9535	16.4462	0.83935	0.0:1.0:0.0:0.0	.	517;328	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	S	328;517;517;294	ENSP00000370122:C328S;ENSP00000324375:C517S;ENSP00000264709:C517S;ENSP00000384237:C294S	ENSP00000264709:C517S	C	-	2	0	DNMT3A	25321630	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.788000	0.69020	2.735000	0.93741	0.655000	0.94253	TGC		0.597	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	0	NM_022552		2:25468126
RGPD3	653489	broad.mit.edu	37	2	107049681	107049681	+	Missense_Mutation	SNP	T	T	C	rs369310197		TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	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
NIPBL	25836	broad.mit.edu	37	5	37022228	37022228	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr5:37022228G>A	ENST00000282516.8	+	28	5903	c.5404G>A	c.(5404-5406)Gta>Ata	p.V1802I	NIPBL_ENST00000448238.2_Missense_Mutation_p.V1802I	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1802					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GGTTGTTGCTGTAGACCCCAG	0.358																																						ENST00000282516.8		NA																	0				autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128						c.(5404-5406)Gta>Ata		Nipped-B homolog (Drosophila)							124.0	114.0	117.0					5																	37022228		2203	4300	6503	SO:0001583	missense	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:37022228G>A	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.5404G>A	5.37:g.37022228G>A	ENSP00000282516:p.Val1802Ile	False	False		Somatic	0				NIPBL_ENST00000448238.2_Missense_Mutation_p.V1802I	p.V1802I	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	WXS	Illumina HiSeq	Phase_I	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		28	5903	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		1802					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	c.5404G>A	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.353414	0.82243	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.87334	-2.24;-2.24	5.24	4.35	0.52113	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.89818	0.6825	L	0.40543	1.245	0.58432	D	0.999992	D;D	0.64830	0.992;0.994	D;D	0.68483	0.958;0.948	D	0.88745	0.3246	10	0.34782	T	0.22	.	16.1087	0.81244	0.0:0.1342:0.8658:0.0	.	1802;1802	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	I	1802	ENSP00000282516:V1802I;ENSP00000406266:V1802I	ENSP00000282516:V1802I	V	+	1	0	NIPBL	37057985	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.384000	0.97219	1.300000	0.44818	0.650000	0.86243	GTA		0.358	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	0	NM_015384		5:37022228
PRMT8	56341	broad.mit.edu	37	12	3649855	3649855	+	Silent	SNP	C	C	A			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr12:3649855C>A	ENST00000382622.3	+	2	549	c.159C>A	c.(157-159)ccC>ccA	p.P53P	PRMT8_ENST00000452611.2_Silent_p.P44P|PRMT8_ENST00000261252.4_3'UTR	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	53					histone arginine methylation (GO:0034969)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CCACTCAACCCAGCTGCCCAG	0.602																																						ENST00000382622.3		NA																	0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37						c.(157-159)ccC>ccA		protein arginine methyltransferase 8							186.0	190.0	189.0					12																	3649855		2203	4300	6503	SO:0001819	synonymous_variant	56341				regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity	g.chr12:3649855C>A	AF263539	CCDS8521.2, CCDS58200.1	12p13.3	2006-03-03	2006-02-16	2006-02-16	ENSG00000111218	ENSG00000111218		"""Protein arginine methyltransferases"""	5188	protein-coding gene	gene with protein product		610086	"""HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)"", ""HMT1 hnRNP methyltransferase-like 4 (S. cerevisiae)"""	HRMT1L3, HRMT1L4		16051612	Standard	NM_019854		Approved		uc001qmf.4	Q9NR22	OTTHUMG00000128493	ENST00000382622.3:c.159C>A	12.37:g.3649855C>A		True	False		Somatic	0				PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Silent_p.P44P	p.P53P	NM_019854.4	NP_062828.3	WXS	Illumina HiSeq	Phase_I	Q9NR22	ANM8_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)		2	549	+			53					B2RDP0|Q8TBJ8	Silent	SNP	ENST00000382622.3	37	c.159C>A	CCDS8521.2																																																																																				0.602	PRMT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250297.2	0	NM_019854		12:3649855
SEMA3G	56920	broad.mit.edu	37	3	52471991	52471991	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr3:52471991C>G	ENST00000231721.2	-	14	1733	c.1734G>C	c.(1732-1734)caG>caC	p.Q578H		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	578	Ig-like C2-type.				multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		ACTCACCTTCCTGGCTCTGGC	0.672																																						ENST00000231721.2		NA																	0				kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18						c.(1732-1734)caG>caC		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G							17.0	18.0	18.0					3																	52471991		2171	4252	6423	SO:0001583	missense	56920				multicellular organismal development	extracellular region|membrane	receptor activity	g.chr3:52471991C>G		CCDS2856.1	3p21.1	2013-01-11			ENSG00000010319	ENSG00000010319		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	30400	protein-coding gene	gene with protein product						11214971	Standard	XM_005265327		Approved	FLJ00014, sem2	uc003dea.1	Q9NS98	OTTHUMG00000158570	ENST00000231721.2:c.1734G>C	3.37:g.52471991C>G	ENSP00000231721:p.Gln578His	False	False		Somatic	0					p.Q578H	NM_020163.1	NP_064548.1	WXS	Illumina HiSeq	Phase_I	Q9NS98	SEM3G_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)	14	1733	-			578			Ig-like C2-type.		Q7L9D9|Q9H7Q3	Missense_Mutation	SNP	ENST00000231721.2	37	c.1734G>C	CCDS2856.1	.	.	.	.	.	.	.	.	.	.	C	12.01	1.809149	0.31961	.	.	ENSG00000010319	ENST00000231721	T	0.30714	1.52	5.09	3.22	0.36961	Immunoglobulin-like (1);	0.329295	0.29225	N	0.012777	T	0.15565	0.0375	N	0.08118	0	0.22266	N	0.999244	B	0.02656	0.0	B	0.10450	0.005	T	0.17561	-1.0365	10	0.38643	T	0.18	.	10.4033	0.44241	0.0:0.7738:0.146:0.0801	.	578	Q9NS98	SEM3G_HUMAN	H	578	ENSP00000231721:Q578H	ENSP00000231721:Q578H	Q	-	3	2	SEMA3G	52447031	0.001000	0.12720	0.978000	0.43139	0.977000	0.68977	0.311000	0.19380	1.388000	0.46506	0.655000	0.94253	CAG		0.672	SEMA3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351354.1	0	NM_020163		3:52471991
FLG	2312	broad.mit.edu	37	1	152282178	152282178	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr1:152282178C>A	ENST00000368799.1	-	3	5219	c.5184G>T	c.(5182-5184)gaG>gaT	p.E1728D	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1728	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGTGTCTGACTCTTCTGAGT	0.597									Ichthyosis																													ENST00000368799.1		NA																	0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(5182-5184)gaG>gaT		filaggrin							223.0	222.0	223.0					1																	152282178		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152282178C>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.5184G>T	1.37:g.152282178C>A	ENSP00000357789:p.Glu1728Asp	False	False		Somatic	0				FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.E1728D	NM_002016.1	NP_002007.1	WXS	Illumina HiSeq	Phase_I	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5219	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1728			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.5184G>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	0.079	-1.187332	0.01620	.	.	ENSG00000143631	ENST00000368799	T	0.00832	5.64	3.81	-4.15	0.03881	.	.	.	.	.	T	0.00073	0.0002	N	0.00690	-1.25	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.27606	-1.0069	9	0.12103	T	0.63	.	1.4188	0.02307	0.3032:0.163:0.4043:0.1295	.	1728	P20930	FILA_HUMAN	D	1728	ENSP00000357789:E1728D	ENSP00000357789:E1728D	E	-	3	2	FLG	150548802	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-3.340000	0.00506	-1.071000	0.03145	-1.906000	0.00525	GAG		0.597	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	0	NM_002016		1:152282178
WDR33	55339	broad.mit.edu	37	2	128471486	128471486	+	Silent	SNP	G	G	A			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr2:128471486G>A	ENST00000322313.4	-	18	3137	c.2979C>T	c.(2977-2979)ggC>ggT	p.G993G		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	993					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TGCAGTCCTGGCCACCCCGGA	0.662																																						ENST00000322313.4		NA																	0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(2977-2979)ggC>ggT		WD repeat domain 33							60.0	69.0	66.0					2																	128471486		2203	4300	6503	SO:0001819	synonymous_variant	55339				postreplication repair|spermatogenesis	collagen|nucleus	protein binding	g.chr2:128471486G>A		CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"""WD repeat domain containing"""	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.2979C>T	2.37:g.128471486G>A		False	False		Somatic	0					p.G993G	NM_018383.4	NP_060853.3	WXS	Illumina HiSeq	Phase_I	Q9C0J8	WDR33_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0695)	18	3137	-	Colorectal(110;0.1)		993					Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Silent	SNP	ENST00000322313.4	37	c.2979C>T	CCDS2150.1																																																																																				0.662	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	0	NM_018383		2:128471486
XPC	7508	broad.mit.edu	37	3	14209834	14209834	+	Silent	SNP	G	G	A			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr3:14209834G>A	ENST00000285021.7	-	4	673	c.459C>T	c.(457-459)ttC>ttT	p.F153F	XPC_ENST00000449060.2_Intron	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	153	Glu-rich (acidic).				DNA repair (GO:0006281)|intra-S DNA damage checkpoint (GO:0031573)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to drug (GO:0042493)|response to UV-B (GO:0010224)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|XPC complex (GO:0071942)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|heteroduplex DNA loop binding (GO:0000404)|single-stranded DNA binding (GO:0003697)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GAGATCGAGAGAAGGCTGTAC	0.418			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000285021.7		NA	yes	Rec		Xeroderma pigmentosum (C)	3	3p25	7508	"""Mis, N, F, S"""	"""xeroderma pigmentosum, complementation group C"""			E		"""skin basal cell, skin squamous cell, melanoma"""			0				NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(457-459)ttC>ttT	Nucleotide excision repair (NER)	xeroderma pigmentosum, complementation group C							60.0	60.0	60.0					3																	14209834		1923	4141	6064	SO:0001819	synonymous_variant	7508	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding	g.chr3:14209834G>A		CCDS46763.1	3p25.1	2014-09-17			ENSG00000154767	ENSG00000154767			12816	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group C protein"""	613208				1522891	Standard	NM_004628		Approved	XPCC, RAD4	uc011ave.2	Q01831	OTTHUMG00000155526	ENST00000285021.7:c.459C>T	3.37:g.14209834G>A		True	False		Somatic	0				XPC_ENST00000449060.2_Intron	p.F153F	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	WXS	Illumina HiSeq	Phase_I	Q01831	XPC_HUMAN			4	673	-			153			Glu-rich (acidic).		B4DIP3|E9PB96|E9PH69|Q53GT7|Q96AX0	Silent	SNP	ENST00000285021.7	37	c.459C>T	CCDS46763.1																																																																																				0.418	XPC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340517.3	0	NM_004628		3:14209834
SLC9A3	6550	broad.mit.edu	37	5	476656	476656	+	Splice_Site	SNP	A	A	G			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr5:476656A>G	ENST00000264938.3	-	12	1900		c.e12+1		SLC9A3_ENST00000514375.1_Splice_Site|CTD-2228K2.7_ENST00000606319.1_RNA|CTD-2228K2.7_ENST00000607286.1_RNA|CTD-2228K2.7_ENST00000606288.1_RNA|CTD-2228K2.7_ENST00000607005.1_RNA	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3						ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|sodium:proton antiporter activity (GO:0015385)			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			CGCAGTGCCCACCTCCTGCCG	0.701																																						ENST00000264938.3		NA																	0				NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37						c.e12+1		solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3							32.0	33.0	32.0					5																	476656		2203	4299	6502	SO:0001630	splice_region_variant	6550					cell surface|integral to membrane	sodium:hydrogen antiporter activity	g.chr5:476656A>G		CCDS3855.1, CCDS64116.1	5p15.3	2013-05-22	2012-03-22		ENSG00000066230	ENSG00000066230		"""Solute carriers"""	11073	protein-coding gene	gene with protein product		182307	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 3"""	NHE3		8096830	Standard	NM_004174		Approved		uc003jbe.2	P48764	OTTHUMG00000090315	ENST00000264938.3:c.1890+1T>C	5.37:g.476656A>G		True	False		Somatic	0				CTD-2228K2.7_ENST00000607286.1_RNA|SLC9A3_ENST00000514375.1_Splice_Site		NM_004174.2	NP_004165.2	WXS	Illumina HiSeq	Phase_I	P48764	SL9A3_HUMAN	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)		12	1900	-			NA					B7ZKR2|E9PF67|Q3MIW3	Splice_Site	SNP	ENST00000264938.3	37		CCDS3855.1	.	.	.	.	.	.	.	.	.	.	A	11.92	1.781915	0.31502	.	.	ENSG00000066230	ENST00000264938;ENST00000514375	.	.	.	4.8	4.8	0.61643	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0046	0.64456	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC9A3	529656	1.000000	0.71417	0.988000	0.46212	0.288000	0.27193	4.943000	0.63554	1.799000	0.52666	0.459000	0.35465	.		0.701	SLC9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206677.2	0	NM_004174	Intron	5:476656
PANX1	24145	broad.mit.edu	37	11	93911725	93911725	+	Missense_Mutation	SNP	C	C	T	rs543769570		TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr11:93911725C>T	ENST00000227638.3	+	3	897	c.512C>T	c.(511-513)tCa>tTa	p.S171L	PANX1_ENST00000436171.2_Missense_Mutation_p.S171L	NM_015368.3	NP_056183.2	Q96RD7	PANX1_HUMAN	pannexin 1	171					calcium ion transport (GO:0006816)|cation transport (GO:0006812)|innate immune response (GO:0045087)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 alpha secretion (GO:0050717)|positive regulation of interleukin-1 beta secretion (GO:0050718)|protein hexamerization (GO:0034214)|response to ATP (GO:0033198)|response to ischemia (GO:0002931)|synaptic transmission (GO:0007268)	bleb (GO:0032059)|endoplasmic reticulum (GO:0005783)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium channel activity (GO:0005262)|gap junction hemi-channel activity (GO:0055077)|leak channel activity (GO:0022840)|receptor binding (GO:0005102)			endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Probenecid(DB01032)	GGAGCCTGCTCAGTTCCAGGT	0.483													C|||	1	0.000199681	0.0	0.0	5008	,	,		20536	0.0		0.0	False		,,,				2504	0.001					ENST00000227638.3		NA																	0				endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(511-513)tCa>tTa		pannexin 1							74.0	65.0	68.0					11																	93911725		2201	4298	6499	SO:0001583	missense	24145				positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission	bleb|endoplasmic reticulum membrane|gap junction|integral to membrane	calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding	g.chr11:93911725C>T	AF093239	CCDS8296.1	11q14-q21	2011-12-02			ENSG00000110218	ENSG00000110218		"""Ion channels / Pannexins"""	8599	protein-coding gene	gene with protein product	"""innexin"""	608420				14597722	Standard	NM_015368		Approved	MRS1, UNQ2529, PX1	uc001per.3	Q96RD7	OTTHUMG00000167757	ENST00000227638.3:c.512C>T	11.37:g.93911725C>T	ENSP00000227638:p.Ser171Leu	False	False		Somatic	0				PANX1_ENST00000436171.2_Missense_Mutation_p.S171L	p.S171L	NM_015368.3	NP_056183.2	WXS	Illumina HiSeq	Phase_I	Q96RD7	PANX1_HUMAN			3	897	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	171					O75968|Q543A0|Q6UW26|Q96AM9|Q96L77|Q96RS5	Missense_Mutation	SNP	ENST00000227638.3	37	c.512C>T	CCDS8296.1	.	.	.	.	.	.	.	.	.	.	C	11.94	1.789449	0.31685	.	.	ENSG00000110218	ENST00000227638;ENST00000436171	T;T	0.26957	1.7;1.7	5.05	5.05	0.67936	.	0.838115	0.11120	N	0.597512	T	0.21427	0.0516	N	0.25647	0.755	0.09310	N	1	B;B	0.20164	0.042;0.034	B;B	0.25506	0.061;0.036	T	0.14035	-1.0487	10	0.25106	T	0.35	-1.3263	13.7438	0.62863	0.0:0.9231:0.0:0.0769	.	171;171	Q96RD7;Q96RD7-2	PANX1_HUMAN;.	L	171	ENSP00000227638:S171L;ENSP00000411461:S171L	ENSP00000227638:S171L	S	+	2	0	PANX1	93551373	0.002000	0.14202	0.154000	0.22540	0.125000	0.20455	1.502000	0.35704	2.342000	0.79632	0.563000	0.77884	TCA		0.483	PANX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396121.1	0	NM_015368		11:93911725
SLC15A1	6564	broad.mit.edu	37	13	99339977	99339977	+	Splice_Site	SNP	T	T	C			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr13:99339977T>C	ENST00000376503.5	-	21	1740	c.1685A>G	c.(1684-1686)aAt>aGt	p.N562S		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	562					digestion (GO:0007586)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	peptide:proton symporter activity (GO:0015333)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Captopril(DB01197)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftizoxime(DB01332)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Enalapril(DB00584)|Fluvastatin(DB01095)|Fosinopril(DB00492)|Glyburide(DB01016)|L-DOPA(DB01235)|Lisinopril(DB00722)|Methyldopa(DB00968)|Midodrine(DB00211)|Moexipril(DB00691)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	GCAGCTGTCATTCTGCAGCAG	0.408																																						ENST00000376503.5		NA																	0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1684-1686)aAt>aGt		solute carrier family 15 (oligopeptide transporter), member 1	Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)						85.0	78.0	80.0					13																	99339977		2203	4300	6503	SO:0001630	splice_region_variant	6564				digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity	g.chr13:99339977T>C	U13173	CCDS9489.1	13q32.3	2013-05-22			ENSG00000088386	ENSG00000088386		"""Solute carriers"""	10920	protein-coding gene	gene with protein product	"""peptide transporter HPEPT1"", ""bA551M18.1.1 (solute carrier family 15 (oligopeptide transporter) member 1)"", ""solute carrier family 15 oligopeptide transporter member 1"""	600544				7896779	Standard	NM_005073		Approved	PEPT1, HPECT1, HPEPT1	uc001vno.3	P46059	OTTHUMG00000017255	ENST00000376503.5:c.1684-1A>G	13.37:g.99339977T>C		False	False		Somatic	0					p.N562S	NM_005073.3	NP_005064.1	WXS	Illumina HiSeq	Phase_I	P46059	S15A1_HUMAN			21	1740	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		562					Q5VW82	Splice_Site	SNP	ENST00000376503.5	37	c.1685A>G	CCDS9489.1	.	.	.	.	.	.	.	.	.	.	T	0.258	-1.001780	0.02128	.	.	ENSG00000088386	ENST00000376503	T	0.01998	4.51	5.45	-5.68	0.02436	Major facilitator superfamily domain, general substrate transporter (1);	1.941670	0.01609	N	0.022434	T	0.00936	0.0031	N	0.02120	-0.675	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.45205	-0.9277	10	0.02654	T	1	-29.6666	8.1832	0.31324	0.0:0.3927:0.3876:0.2197	.	562	P46059	S15A1_HUMAN	S	562	ENSP00000365686:N562S	ENSP00000365686:N562S	N	-	2	0	SLC15A1	98137978	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.980000	0.03770	-1.882000	0.01122	-0.460000	0.05396	AAT		0.408	SLC15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045560.3	0	NM_005073	Missense_Mutation	13:99339977
XCL2	6846	broad.mit.edu	37	1	168510202	168510202	+	Silent	SNP	G	G	A	rs149372418	byFrequency	TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr1:168510202G>A	ENST00000367819.2	-	3	365	c.333C>T	c.(331-333)acC>acT	p.T111T		NM_003175.3	NP_003166.1	Q9UBD3	XCL2_HUMAN	chemokine (C motif) ligand 2	111					blood circulation (GO:0008015)|cell chemotaxis (GO:0060326)|immune response (GO:0006955)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)	p.T111T(1)		large_intestine(1)|lung(6)|ovary(1)	8	all_hematologic(923;0.215)					AGCCAGTCAGGGTCACAGCTG	0.498													G|||	2	0.000399361	0.0	0.0	5008	,	,		15935	0.001		0.0	False		,,,				2504	0.001					ENST00000367819.2		NA																	1	Substitution - coding silent(1)	p.T111T(1)	lung(1)	large_intestine(1)|lung(6)|ovary(1)	8						c.(331-333)acC>acT		chemokine (C motif) ligand 2		G		1,4405		0,1,2202	299.0	234.0	256.0		333	1.4	0.2	1	dbSNP_134	256	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	XCL2	NM_003175.3		0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231		111/115	168510202	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	6846				blood circulation|chemotaxis|immune response|signal transduction	extracellular space	chemokine activity	g.chr1:168510202G>A	BC070309	CCDS1273.1	1q24.2	2013-02-28	2002-08-22	2002-08-23	ENSG00000143185	ENSG00000143185		"""Endogenous ligands"""	10646	protein-coding gene	gene with protein product		604828	"""small inducible cytokine subfamily C, member 2"""	SCYC2		7875320	Standard	NM_003175		Approved	SCM-1b	uc001gfn.4	Q9UBD3	OTTHUMG00000034549	ENST00000367819.2:c.333C>T	1.37:g.168510202G>A		True	False		Somatic	0					p.T111T	NM_003175.3	NP_003166.1	WXS	Illumina HiSeq	Phase_I	Q9UBD3	XCL2_HUMAN			3	365	-	all_hematologic(923;0.215)		111						Silent	SNP	ENST00000367819.2	37	c.333C>T	CCDS1273.1																																																																																				0.498	XCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083613.1	0	NM_003175		1:168510202
MAN2A2	4122	broad.mit.edu	37	15	91450665	91450665	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr15:91450665G>A	ENST00000559717.1	+	8	1595	c.1136G>A	c.(1135-1137)cGc>cAc	p.R379H	MAN2A2_ENST00000431652.2_5'UTR|MAN2A2_ENST00000360468.3_Missense_Mutation_p.R379H			P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	379					cellular protein metabolic process (GO:0044267)|mannose metabolic process (GO:0006013)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CCTGGTGGGCGCATCAACTGC	0.567																																						ENST00000360468.3		NA																	0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						c.(1135-1137)cGc>cAc		mannosidase, alpha, class 2A, member 2							68.0	67.0	67.0					15																	91450665		2198	4298	6496	SO:0001583	missense	4122				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	g.chr15:91450665G>A	L28821	CCDS32332.1	15q25	2011-06-30			ENSG00000196547	ENSG00000196547			6825	protein-coding gene	gene with protein product		600988				8524845	Standard	NM_006122		Approved	MANA2X, HsT19662	uc002bqc.3	P49641		ENST00000559717.1:c.1136G>A	15.37:g.91450665G>A	ENSP00000452948:p.Arg379His	False	False		Somatic	0				MAN2A2_ENST00000559717.1_Missense_Mutation_p.R379H|MAN2A2_ENST00000431652.2_5'UTR	p.R379H	NM_006122.2	NP_006113.2	WXS	Illumina HiSeq	Phase_I	P49641	MA2A2_HUMAN	Lung(145;0.229)		7	1154	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		379					A6NH12|A8K1E8|Q13754	Missense_Mutation	SNP	ENST00000559717.1	37	c.1136G>A	CCDS32332.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.036754	0.93630	.	.	ENSG00000196547	ENST00000360468	T	0.23348	1.91	5.67	5.67	0.87782	Glycoside hydrolase/deacetylase, beta/alpha-barrel (1);Glycoside hydrolase, family 38, core (2);	0.000000	0.85682	D	0.000000	T	0.58090	0.2098	M	0.90198	3.095	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.72625	0.978;0.975;0.978	T	0.58440	-0.7636	10	0.15499	T	0.54	-27.9461	19.8235	0.96607	0.0:0.0:1.0:0.0	.	49;379;379	B4DIK4;P49641-1;P49641	.;.;MA2A2_HUMAN	H	379	ENSP00000353655:R379H	ENSP00000353655:R379H	R	+	2	0	MAN2A2	89251669	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	9.776000	0.99001	2.696000	0.92011	0.456000	0.33151	CGC		0.567	MAN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418246.5	0	NM_006122		15:91450665
SPICE1	152185	broad.mit.edu	37	3	113179511	113179511	+	Missense_Mutation	SNP	T	T	C			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr3:113179511T>C	ENST00000295872.4	-	12	1647	c.1388A>G	c.(1387-1389)cAg>cGg	p.Q463R		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	463					metaphase plate congression (GO:0051310)|regulation of centriole replication (GO:0046599)|spindle assembly involved in mitosis (GO:0090307)	centriole (GO:0005814)|centrosome (GO:0005813)|spindle (GO:0005819)				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						TTCTGATGCCTGAATTTCTTG	0.433																																						ENST00000295872.4		NA																	0				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						c.(1387-1389)cAg>cGg		spindle and centriole associated protein 1							295.0	256.0	269.0					3																	113179511		2203	4300	6503	SO:0001583	missense	152185				cell division|mitosis	centriole|spindle	protein binding	g.chr3:113179511T>C	AY099107	CCDS2973.1	3q13.2	2010-09-01	2010-09-01	2010-09-01	ENSG00000163611	ENSG00000163611			25083	protein-coding gene	gene with protein product	"""spindle and centriole protein"""	613447	"""coiled-coil domain containing 52"""	CCDC52		20736305	Standard	NM_144718		Approved	SPICE	uc003eag.4	Q8N0Z3	OTTHUMG00000159261	ENST00000295872.4:c.1388A>G	3.37:g.113179511T>C	ENSP00000295872:p.Gln463Arg	False	False		Somatic	0					p.Q463R	NM_144718.3	NP_653319.1	WXS	Illumina HiSeq	Phase_I	Q8N0Z3	SPICE_HUMAN			12	1647	-			463					D3DN72|Q8WUX6	Missense_Mutation	SNP	ENST00000295872.4	37	c.1388A>G	CCDS2973.1	.	.	.	.	.	.	.	.	.	.	T	9.402	1.078260	0.20227	.	.	ENSG00000163611	ENST00000295872	T	0.31247	1.5	5.07	1.27	0.21489	.	0.097441	0.45126	D	0.000397	T	0.30166	0.0756	L	0.57536	1.79	0.09310	N	1	P;P	0.40476	0.718;0.718	P;P	0.44359	0.447;0.447	T	0.09796	-1.0658	10	0.52906	T	0.07	-4.9826	6.0655	0.19862	0.345:0.0:0.1276:0.5274	.	359;463	B3KX77;Q8N0Z3	.;SPICE_HUMAN	R	463	ENSP00000295872:Q463R	ENSP00000295872:Q463R	Q	-	2	0	SPICE1	114662201	0.121000	0.22262	0.260000	0.24451	0.940000	0.58332	0.692000	0.25482	0.919000	0.36945	0.528000	0.53228	CAG		0.433	SPICE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354177.2	0	NM_144718		3:113179511
HCN1	348980	broad.mit.edu	37	5	45262090	45262090	+	Missense_Mutation	SNP	C	C	T	rs372807250		TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr5:45262090C>T	ENST00000303230.4	-	8	2663	c.2606G>A	c.(2605-2607)aGa>aAa	p.R869K		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	869					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GGAAGATTCTCTTGGAAGAGC	0.537																																						ENST00000303230.4		NA																	0				NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						c.(2605-2607)aGa>aAa		hyperpolarization activated cyclic nucleotide-gated potassium channel 1		C	LYS/ARG	1,4405	2.1+/-5.4	0,1,2202	76.0	90.0	85.0		2606	4.9	1.0	5		85	0,8600		0,0,4300	no	missense	HCN1	NM_021072.3	26	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	869/891	45262090	1,13005	2203	4300	6503	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45262090C>T	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.2606G>A	5.37:g.45262090C>T	ENSP00000307342:p.Arg869Lys	False	False		Somatic	0					p.R869K	NM_021072.3	NP_066550.2	WXS	Illumina HiSeq	Phase_I	O60741	HCN1_HUMAN			8	2663	-			869						Missense_Mutation	SNP	ENST00000303230.4	37	c.2606G>A	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	c	9.791	1.177962	0.21787	2.27E-4	0.0	ENSG00000164588	ENST00000303230	D	0.97575	-4.44	4.87	4.87	0.63330	.	0.082787	0.49305	D	0.000148	D	0.90865	0.7130	N	0.04880	-0.145	0.36584	D	0.873737	B	0.09022	0.002	B	0.09377	0.004	D	0.88891	0.3346	10	0.36615	T	0.2	.	11.8404	0.52350	0.0:0.9193:0.0:0.0807	.	869	O60741	HCN1_HUMAN	K	869	ENSP00000307342:R869K	ENSP00000307342:R869K	R	-	2	0	HCN1	45297847	1.000000	0.71417	0.996000	0.52242	0.361000	0.29550	1.995000	0.40767	2.399000	0.81585	0.651000	0.88453	AGA		0.537	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	0	NM_021072		5:45262090
PALD1	27143	broad.mit.edu	37	10	72289039	72289039	+	Nonsense_Mutation	SNP	C	C	A			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr10:72289039C>A	ENST00000263563.6	+	3	508	c.240C>A	c.(238-240)taC>taA	p.Y80*		NM_014431.2	NP_055246.2	Q9ULE6	PALD_HUMAN	phosphatase domain containing, paladin 1	80						cytosol (GO:0005829)											AGGCTCATTACACGTTGGGCC	0.612																																						ENST00000263563.6		NA																	0					NA						c.(238-240)taC>taA		phosphatase domain containing, paladin 1							82.0	67.0	72.0					10																	72289039		2203	4300	6503	SO:0001587	stop_gained	27143							g.chr10:72289039C>A	AB033100	CCDS31215.1	10q22.2	2012-07-17	2012-07-17	2012-07-17	ENSG00000107719	ENSG00000107719			23530	protein-coding gene	gene with protein product		614656	"""paladin"", ""KIAA1274"""	PALD, KIAA1274			Standard	NM_014431		Approved		uc001jrd.4	Q9ULE6	OTTHUMG00000018411	ENST00000263563.6:c.240C>A	10.37:g.72289039C>A	ENSP00000263563:p.Tyr80*	False	False		Somatic	0					p.Y80*	NM_014431.2	NP_055246.2	WXS	Illumina HiSeq	Phase_I					3	508	+			NA					B2RMS1|B9EGC6|Q5JTK7|Q5JTK8	Nonsense_Mutation	SNP	ENST00000263563.6	37	c.240C>A	CCDS31215.1	.	.	.	.	.	.	.	.	.	.	C	36	5.677826	0.96764	.	.	ENSG00000107719	ENST00000263563;ENST00000373214	.	.	.	5.03	2.18	0.27775	.	0.060096	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-23.6574	8.285	0.31924	0.0:0.6133:0.0:0.3867	.	.	.	.	X	80	.	ENSP00000263563:Y80X	Y	+	3	2	KIAA1274	71959045	1.000000	0.71417	0.865000	0.33974	0.600000	0.36913	1.048000	0.30379	0.257000	0.21650	-0.137000	0.14449	TAC		0.612	PALD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048515.2	0	NM_014431		10:72289039
DENND2D	79961	broad.mit.edu	37	1	111730759	111730759	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr1:111730759G>C	ENST00000357640.4	-	11	1562	c.1333C>G	c.(1333-1335)Cct>Gct	p.P445A	DENND2D_ENST00000369752.5_Missense_Mutation_p.P442A	NM_024901.3	NP_079177.2	Q9H6A0	DEN2D_HUMAN	DENN/MADD domain containing 2D	445					positive regulation of Rab GTPase activity (GO:0032851)	cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)		GTACCTGCAGGAGGATTCTTG	0.468																																						ENST00000357640.4		NA																	0				breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25						c.(1333-1335)Cct>Gct		DENN/MADD domain containing 2D							66.0	65.0	65.0					1																	111730759		2203	4300	6503	SO:0001583	missense	79961							g.chr1:111730759G>C		CCDS831.1, CCDS60219.1	1p13.3	2014-02-12	2005-08-17		ENSG00000162777	ENSG00000162777		"""DENN/MADD domain containing"""	26192	protein-coding gene	gene with protein product		615111				12477932	Standard	NM_024901		Approved	FLJ22457, RP5-1180E21.2	uc001eal.2	Q9H6A0	OTTHUMG00000012356	ENST00000357640.4:c.1333C>G	1.37:g.111730759G>C	ENSP00000350266:p.Pro445Ala	False	False		Somatic	0				DENND2D_ENST00000369752.5_Missense_Mutation_p.P442A	p.P445A	NM_024901.3	NP_079177.2	WXS	Illumina HiSeq	Phase_I	Q9H6A0	DEN2D_HUMAN		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)	11	1562	-		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)	445					Q5T5V6|Q9BSU0	Missense_Mutation	SNP	ENST00000357640.4	37	c.1333C>G	CCDS831.1	.	.	.	.	.	.	.	.	.	.	G	3.119	-0.180963	0.06380	.	.	ENSG00000162777	ENST00000357640;ENST00000369752	T;T	0.12569	2.67;2.67	5.76	5.76	0.90799	.	0.169277	0.52532	D	0.000071	T	0.02380	0.0073	N	0.14661	0.345	0.27874	N	0.939913	B;B	0.34015	0.43;0.435	B;B	0.30179	0.112;0.057	T	0.32214	-0.9915	10	0.02654	T	1	-14.1137	15.8146	0.78589	0.0:0.0:1.0:0.0	.	442;445	Q9H6A0-2;Q9H6A0	.;DEN2D_HUMAN	A	445;442	ENSP00000350266:P445A;ENSP00000358767:P442A	ENSP00000350266:P445A	P	-	1	0	DENND2D	111532282	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	4.599000	0.61076	2.882000	0.98803	0.655000	0.94253	CCT		0.468	DENND2D-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000034456.1	0	NM_024901		1:111730759
SPDYE3	441272	broad.mit.edu	37	7	99913460	99913460	+	Silent	SNP	A	A	G	rs201349757		TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr7:99913460A>G	ENST00000332397.6	+	7	1438	c.1254A>G	c.(1252-1254)tcA>tcG	p.S418S	SPDYE3_ENST00000437326.2_Silent_p.S41S	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	418								p.S418S(11)		endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						TGAGGGTGTCAGACAAGGTAA	0.522																																						ENST00000332397.6		NA																	11	Substitution - coding silent(11)	p.S418S(11)	endometrium(10)|prostate(1)	endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						c.(1252-1254)tcA>tcG		speedy/RINGO cell cycle regulator family member E3							253.0	273.0	266.0					7																	99913460		2091	3956	6047	SO:0001819	synonymous_variant	441272							g.chr7:99913460A>G	BC056606	CCDS47658.1, CCDS47658.2	7q22.1	2013-05-08	2013-05-08		ENSG00000214300	ENSG00000214300		"""Speedy homologs"""	35462	protein-coding gene	gene with protein product			"""speedy homolog E3 (Xenopus laevis)"""				Standard	NM_001004351		Approved		uc022aij.1	A6NKU9	OTTHUMG00000155462	ENST00000332397.6:c.1254A>G	7.37:g.99913460A>G		False	False		Somatic	0				SPDYE3_ENST00000437326.2_Silent_p.S41S	p.S418S	NM_001004351.4	NP_001004351.3	WXS	Illumina HiSeq	Phase_I	A6NKU9	SPDE3_HUMAN			7	1438	+			418					Q495Y9|Q6PHC4	Silent	SNP	ENST00000332397.6	37	c.1254A>G	CCDS47658.2																																																																																				0.522	SPDYE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340224.2	0	NM_001004351		7:99913460
ATAD2B	54454	broad.mit.edu	37	2	24051724	24051724	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr2:24051724C>T	ENST00000238789.5	-	15	2157	c.1814G>A	c.(1813-1815)tGt>tAt	p.C605Y	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	605						nucleus (GO:0005634)	ATP binding (GO:0005524)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCACCAACACATTTTTCAGC	0.368																																						ENST00000238789.5		NA																	0				central_nervous_system(1)	1						c.(1813-1815)tGt>tAt		ATPase family, AAA domain containing 2B							111.0	107.0	108.0					2																	24051724		1860	4107	5967	SO:0001583	missense	54454						ATP binding|nucleoside-triphosphatase activity	g.chr2:24051724C>T	AB033066	CCDS46227.1	2p24.1-p23.3	2010-04-21		2007-02-08	ENSG00000119778	ENSG00000119778		"""ATPases / AAA-type"""	29230	protein-coding gene	gene with protein product		615347					Standard	XM_005264372		Approved	KIAA1240	uc002rek.4	Q9ULI0	OTTHUMG00000151902	ENST00000238789.5:c.1814G>A	2.37:g.24051724C>T	ENSP00000238789:p.Cys605Tyr	False	False		Somatic	0				ATAD2B_ENST00000474583.1_5'UTR	p.C605Y	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	WXS	Illumina HiSeq	Phase_I	Q9ULI0	ATD2B_HUMAN			15	2157	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		605					B9ZVQ5|Q6ZNA6|Q8N9E7	Missense_Mutation	SNP	ENST00000238789.5	37	c.1814G>A	CCDS46227.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.287448	0.80803	.	.	ENSG00000119778	ENST00000238789;ENST00000458510	D;D	0.94862	-3.54;-1.68	4.85	4.85	0.62838	.	.	.	.	.	D	0.96784	0.8950	M	0.82056	2.57	0.80722	D	1	P	0.52170	0.951	P	0.58077	0.832	D	0.97225	0.9880	9	0.72032	D	0.01	.	18.8549	0.92247	0.0:1.0:0.0:0.0	.	605	Q9ULI0	ATD2B_HUMAN	Y	605;43	ENSP00000238789:C605Y;ENSP00000392764:C43Y	ENSP00000238789:C605Y	C	-	2	0	ATAD2B	23905228	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	7.730000	0.84881	2.632000	0.89209	0.650000	0.86243	TGT		0.368	ATAD2B-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324333.1	0	NM_017552		2:24051724
SBNO1	55206	broad.mit.edu	37	12	123834971	123834971	+	Silent	SNP	T	T	C			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr12:123834971T>C	ENST00000602398.1	-	2	145	c.18A>G	c.(16-18)caA>caG	p.Q6Q	SBNO1_ENST00000267176.4_Silent_p.Q6Q|Y_RNA_ENST00000384460.1_RNA|SBNO1_ENST00000602750.1_Silent_p.Q6Q|SBNO1_ENST00000420886.2_Silent_p.Q6Q			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	6					regulation of transcription, DNA-templated (GO:0006355)					NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		GCAGTAAATCTTGCCCTGGCT	0.383																																						ENST00000420886.2		NA																	0				NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62						c.(16-18)caA>caG		strawberry notch homolog 1 (Drosophila)							200.0	203.0	202.0					12																	123834971		2203	4300	6503	SO:0001819	synonymous_variant	55206						ATP binding|DNA binding|hydrolase activity	g.chr12:123834971T>C	AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"""sno, strawberry notch homolog 1 (Drosophila)"""				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.18A>G	12.37:g.123834971T>C		False	False		Somatic	0				SBNO1_ENST00000602750.1_Silent_p.Q6Q|SBNO1_ENST00000602398.1_Silent_p.Q6Q|SBNO1_ENST00000267176.4_Silent_p.Q6Q	p.Q6Q	NM_001167856.1	NP_001161328.1	WXS	Illumina HiSeq	Phase_I	A3KN83	SBNO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	1	17	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		6					Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Silent	SNP	ENST00000602398.1	37	c.18A>G	CCDS53844.1																																																																																				0.383	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	0	NM_018183		12:123834971
HAGH	3029	broad.mit.edu	37	16	1869148	1869148	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr16:1869148G>A	ENST00000397356.3	-	5	915	c.509C>T	c.(508-510)cCc>cTc	p.P170L	HAGH_ENST00000566709.1_Missense_Mutation_p.P122L|HAGH_ENST00000397353.2_Missense_Mutation_p.P122L|HAGH_ENST00000455446.2_Intron	NM_005326.4	NP_005317.2	Q16775	GLO2_HUMAN	hydroxyacylglutathione hydrolase	170					glutathione biosynthetic process (GO:0006750)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxyacylglutathione hydrolase activity (GO:0004416)|zinc ion binding (GO:0008270)			kidney(2)|lung(1)|ovary(1)|skin(1)	5		Hepatocellular(780;0.00335)			Glutathione(DB00143)	CGAGCCTCCGGGCTTGCTCAC	0.627																																					Pancreas(55;1048 1176 25227 40124 41333)	ENST00000397356.3		NA																	0				kidney(2)|lung(1)|ovary(1)|skin(1)	5						c.(508-510)cCc>cTc		hydroxyacylglutathione hydrolase	Glutathione(DB00143)						44.0	45.0	44.0					16																	1869148		2198	4300	6498	SO:0001583	missense	3029				glutathione biosynthetic process	cytoplasm|mitochondrial matrix	hydroxyacylglutathione hydrolase activity|zinc ion binding	g.chr16:1869148G>A	X90999	CCDS32366.1, CCDS10447.2, CCDS66900.1	16p13.3	2012-10-02	2003-11-04		ENSG00000063854	ENSG00000063854	3.1.2.6		4805	protein-coding gene	gene with protein product		138760	"""hydroxyacyl glutathione hydrolase"""			3025077, 7327557	Standard	NM_001286249		Approved	GLO2, GLXII, HAGH1	uc002cna.3	Q16775	OTTHUMG00000128662	ENST00000397356.3:c.509C>T	16.37:g.1869148G>A	ENSP00000380514:p.Pro170Leu	True	False		Somatic	0				HAGH_ENST00000397353.2_Missense_Mutation_p.P122L|HAGH_ENST00000566709.1_Missense_Mutation_p.P122L|HAGH_ENST00000455446.2_Intron	p.P170L	NM_005326.4	NP_005317.2	WXS	Illumina HiSeq	Phase_I	Q16775	GLO2_HUMAN			5	915	-		Hepatocellular(780;0.00335)	170					A8K290|B4DP33|B4DRA7|E7EN93	Missense_Mutation	SNP	ENST00000397356.3	37	c.509C>T	CCDS10447.2	.	.	.	.	.	.	.	.	.	.	G	12.68	2.010153	0.35415	.	.	ENSG00000063854	ENST00000397356;ENST00000397353	D;D	0.95622	-3.76;-3.76	4.92	4.92	0.64577	Beta-lactamase-like (2);	0.232302	0.44285	D	0.000476	D	0.90587	0.7049	N	0.25201	0.72	0.80722	D	1	P;B;P	0.39717	0.536;0.099;0.684	B;B;B	0.34824	0.067;0.023;0.19	D	0.90163	0.4229	10	0.30078	T	0.28	-11.5709	17.4781	0.87666	0.0:0.0:1.0:0.0	.	167;122;170	B4DT01;Q16775-2;Q16775	.;.;GLO2_HUMAN	L	170;122	ENSP00000380514:P170L;ENSP00000380511:P122L	ENSP00000380511:P122L	P	-	2	0	HAGH	1809149	1.000000	0.71417	0.945000	0.38365	0.042000	0.13812	6.522000	0.73783	2.435000	0.82474	0.555000	0.69702	CCC		0.627	HAGH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250548.2	0	NM_005326		16:1869148
OXR1	55074	broad.mit.edu	37	8	107705020	107705020	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr8:107705020G>A	ENST00000442977.2	+	6	692	c.593G>A	c.(592-594)cGa>cAa	p.R198Q	OXR1_ENST00000517566.2_Missense_Mutation_p.R197Q|OXR1_ENST00000445937.1_Missense_Mutation_p.R197Q|OXR1_ENST00000312046.6_Missense_Mutation_p.R190Q|OXR1_ENST00000531443.1_Missense_Mutation_p.R197Q|OXR1_ENST00000497705.1_Missense_Mutation_p.R130Q|OXR1_ENST00000452423.2_5'UTR	NM_001198532.1	NP_001185461.1	Q8N573	OXR1_HUMAN	oxidation resistance 1	198					adult walking behavior (GO:0007628)|cellular response to hydroperoxide (GO:0071447)|negative regulation of neuron apoptotic process (GO:0043524)|response to oxidative stress (GO:0006979)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)	oxidoreductase activity (GO:0016491)			NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			CGACCTGCACGAGTTGTATCT	0.348																																						ENST00000445937.1		NA																	0				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31						c.(589-591)cGa>cAa		oxidation resistance 1							79.0	81.0	80.0					8																	107705020		2203	4300	6503	SO:0001583	missense	55074				cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion		g.chr8:107705020G>A	AF309387	CCDS6304.2, CCDS47909.1, CCDS56547.1, CCDS56548.1, CCDS56549.1, CCDS56550.1	8q23	2013-03-14			ENSG00000164830	ENSG00000164830			15822	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 3"""	605609				11114193	Standard	NM_181354		Approved	TLDC3	uc011lht.2	Q8N573	OTTHUMG00000167682	ENST00000442977.2:c.593G>A	8.37:g.107705020G>A	ENSP00000405424:p.Arg198Gln	False	False		Somatic	0				OXR1_ENST00000497705.1_Missense_Mutation_p.R130Q|OXR1_ENST00000517566.2_Missense_Mutation_p.R197Q|OXR1_ENST00000312046.6_Missense_Mutation_p.R190Q|OXR1_ENST00000452423.2_5'UTR|OXR1_ENST00000531443.1_Missense_Mutation_p.R197Q|OXR1_ENST00000442977.2_Missense_Mutation_p.R198Q	p.R197Q	NM_018002.3	NP_060472.2	WXS	Illumina HiSeq	Phase_I	Q8N573	OXR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)		7	851	+			198					A6NK11|A8KA34|B3KXL1|B7Z402|B7Z8N5|D3HIS6|Q3LIB5|Q6ZVK9|Q8N8V0|Q9H266|Q9NWC7	Missense_Mutation	SNP	ENST00000442977.2	37	c.590G>A	CCDS56548.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.5|20.5	4.008905|4.008905	0.75046|0.75046	.|.	.|.	ENSG00000164830|ENSG00000164830	ENST00000517455|ENST00000445937;ENST00000531443;ENST00000517566;ENST00000442977;ENST00000497705;ENST00000312046	.|T;T;T;T;T;T	.|0.25414	.|2.62;2.62;2.61;2.61;1.8;2.64	5.06|5.06	5.06|5.06	0.68205|0.68205	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.33323|0.33323	0.0859|0.0859	L|L	0.52573|0.52573	1.65|1.65	0.80722|0.80722	D|D	1|1	.|P;P;P;P	.|0.52692	.|0.903;0.843;0.955;0.955	.|B;B;P;B	.|0.47299	.|0.283;0.147;0.543;0.392	T|T	0.06338|0.06338	-1.0832|-1.0832	5|10	.|0.46703	.|T	.|0.11	-14.7806|-14.7806	17.9993|17.9993	0.89194|0.89194	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|190;198;130;197	.|Q8N573-2;Q8N573;Q8N573-3;Q8N573-5	.|.;OXR1_HUMAN;.;.	K|Q	114|197;197;197;198;130;190	.|ENSP00000402918:R197Q;ENSP00000431966:R197Q;ENSP00000429205:R197Q;ENSP00000405424:R198Q;ENSP00000431014:R130Q;ENSP00000311026:R190Q	.|ENSP00000311026:R190Q	E|R	+|+	1|2	0|0	OXR1|OXR1	107774196|107774196	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.329000|0.329000	0.28539|0.28539	7.352000|7.352000	0.79404|0.79404	2.336000|2.336000	0.79503|0.79503	0.467000|0.467000	0.42956|0.42956	GAG|CGA		0.348	OXR1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		0	NM_181354		8:107705020
PRM1	5619	broad.mit.edu	37	16	11374992	11374992	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr16:11374992C>G	ENST00000312511.3	-	1	215	c.104G>C	c.(103-105)aGa>aCa	p.R35T	RMI2_ENST00000572173.1_Intron	NM_002761.2	NP_002752.1	P04553	HSP1_HUMAN	protamine 1	35					cell differentiation (GO:0030154)|chromosome condensation (GO:0030261)|DNA packaging (GO:0006323)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleoplasm (GO:0005654)|nucleosome (GO:0000786)	DNA binding (GO:0003677)	p.0?(1)		large_intestine(2)|skin(2)	4						ACTCATGGCTCTCCTCCGTGT	0.617																																						ENST00000312511.3		NA																	1	Whole gene deletion(1)	p.0?(1)	haematopoietic_and_lymphoid_tissue(1)	large_intestine(2)|skin(2)	4						c.(103-105)aGa>aCa		protamine 1							117.0	109.0	112.0					16																	11374992		2197	4300	6497	SO:0001583	missense	5619				chromosome condensation|multicellular organismal development	nucleoplasm|nucleosome	DNA binding	g.chr16:11374992C>G		CCDS10547.1	16p13.2	2009-08-06			ENSG00000175646	ENSG00000175646			9447	protein-coding gene	gene with protein product	"""cancer/testis antigen family 94, member 1"""	182880					Standard	NM_002761		Approved	CT94.1	uc002dav.3	P04553	OTTHUMG00000090521	ENST00000312511.3:c.104G>C	16.37:g.11374992C>G	ENSP00000310515:p.Arg35Thr	False	False		Somatic	0				RMI2_ENST00000572173.1_Intron	p.R35T	NM_002761.2	NP_002752.1	WXS	Illumina HiSeq	Phase_I	P04553	HSP1_HUMAN			1	215	-			35						Missense_Mutation	SNP	ENST00000312511.3	37	c.104G>C	CCDS10547.1	.	.	.	.	.	.	.	.	.	.	C	5.402	0.259367	0.10239	.	.	ENSG00000175646	ENST00000312511	.	.	.	3.2	2.23	0.28157	.	0.610754	0.13387	N	0.391708	T	0.30198	0.0757	.	.	.	0.09310	N	1	P	0.44139	0.827	B	0.42087	0.375	T	0.14420	-1.0473	8	0.87932	D	0	1.6873	6.2261	0.20708	0.0:0.8559:0.0:0.1441	.	35	P04553	HSP1_HUMAN	T	35	.	ENSP00000310515:R35T	R	-	2	0	PRM1	11282493	0.006000	0.16342	0.004000	0.12327	0.055000	0.15305	0.194000	0.17135	0.560000	0.29169	0.430000	0.28490	AGA		0.617	PRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207010.1	0			16:11374992
C17orf64	124773	broad.mit.edu	37	17	58511366	58511366	+	IGR	SNP	C	C	T			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr17:58511366C>T	ENST00000269127.4	+	0	950				RPL12P38_ENST00000588627.1_RNA	NM_181707.2	NP_859058.2	Q86WR6	CQ064_HUMAN	chromosome 17 open reading frame 64											breast(2)|large_intestine(1)|lung(3)	6	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;5.81e-13)|all cancers(12;2.17e-11)|Colorectal(3;0.01)			GAAGGCACCACCTCAATCTGG	0.473																																						ENST00000588627.1		NA																	0					NA																																												SO:0001628	intergenic_variant	0							g.chr17:58511366C>T	BC048806	CCDS32698.2	17q23.2	2005-12-16			ENSG00000141371	ENSG00000141371			26990	protein-coding gene	gene with protein product						12477932	Standard	NM_181707		Approved		uc002iyq.3	Q86WR6	OTTHUMG00000157171		17.37:g.58511366C>T		False	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	1991	-			NA					Q8IY87	RNA	SNP	ENST00000269127.4	37		CCDS32698.2																																																																																				0.473	C17orf64-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000347743.1	0	NM_181707		17:58511366
PNMA5	114824	broad.mit.edu	37	X	152159333	152159333	+	Silent	SNP	C	C	G			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chrX:152159333C>G	ENST00000439251.1	-	2	1248	c.810G>C	c.(808-810)ctG>ctC	p.L270L	PNMA5_ENST00000535214.1_Silent_p.L270L|PNMA5_ENST00000452693.1_Silent_p.L270L|PNMA5_ENST00000361887.5_Silent_p.L270L	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	270					positive regulation of apoptotic process (GO:0043065)					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					CGGCTTTCTGCAGCAGGGGCT	0.542																																						ENST00000439251.1		NA																	0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(808-810)ctG>ctC		paraneoplastic Ma antigen family member 5							57.0	58.0	58.0					X																	152159333		2203	4300	6503	SO:0001819	synonymous_variant	114824				apoptosis			g.chrX:152159333C>G	AB067521	CCDS14718.1	Xq28	2012-02-09	2012-02-09		ENSG00000198883	ENSG00000198883		"""Paraneoplastic Ma antigens"""	18743	protein-coding gene	gene with protein product	"""paraneoplastic antigen family 5"""	300916	"""paraneoplastic antigen like 5"""			16214224	Standard	NM_052926		Approved	KIAA1934	uc004fgy.4	Q96PV4	OTTHUMG00000024184	ENST00000439251.1:c.810G>C	X.37:g.152159333C>G		False	False		Somatic	0				PNMA5_ENST00000535214.1_Silent_p.L270L|PNMA5_ENST00000452693.1_Silent_p.L270L|PNMA5_ENST00000361887.5_Silent_p.L270L	p.L270L	NM_001103150.1	NP_001096620.1	WXS	Illumina HiSeq	Phase_I	Q96PV4	PNMA5_HUMAN			2	1248	-	Acute lymphoblastic leukemia(192;6.56e-05)		270					B4DI72|B7Z9Y9|Q495L5|Q8NET3	Silent	SNP	ENST00000439251.1	37	c.810G>C	CCDS14718.1																																																																																				0.542	PNMA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060925.1	0	NM_052926		X:152159333
NOTCH1	4851	broad.mit.edu	37	9	139412288	139412288	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr9:139412288C>T	ENST00000277541.6	-	8	1432	c.1357G>A	c.(1357-1359)Gtc>Atc	p.V453I	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	453	EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CACTCGTTGACGTCGATCTCG	0.657			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6		NA		Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(1357-1359)Gtc>Atc		notch 1							57.0	63.0	61.0					9																	139412288		2176	4267	6443	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139412288C>T	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.1357G>A	9.37:g.139412288C>T	ENSP00000277541:p.Val453Ile	False	False	HNSCC(8;0.001)	Somatic	0					p.V453I	NM_017617.3	NP_060087.3	WXS	Illumina HiSeq	Phase_I	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	8	1432	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	453			EGF-like 12; calcium-binding (Potential).		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.1357G>A	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	5.036	0.192406	0.09599	.	.	ENSG00000148400	ENST00000277541	D	0.87103	-2.21	4.57	4.57	0.56435	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.202030	0.42682	D	0.000678	T	0.67249	0.2873	N	0.02120	-0.675	0.43588	D	0.995933	P	0.35363	0.497	B	0.34418	0.182	T	0.72953	-0.4135	10	0.02654	T	1	.	16.3317	0.83023	0.0:1.0:0.0:0.0	.	453	P46531	NOTC1_HUMAN	I	453	ENSP00000277541:V453I	ENSP00000277541:V453I	V	-	1	0	NOTCH1	138532109	0.997000	0.39634	0.990000	0.47175	0.788000	0.44548	0.789000	0.26886	2.088000	0.63022	0.462000	0.41574	GTC		0.657	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	0	NM_017617		9:139412288
PFAS	5198	broad.mit.edu	37	17	8170106	8170106	+	Missense_Mutation	SNP	G	G	A	rs561030492		TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr17:8170106G>A	ENST00000314666.6	+	23	2990	c.2857G>A	c.(2857-2859)Gtg>Atg	p.V953M	PFAS_ENST00000545834.1_Missense_Mutation_p.V529M	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	953					'de novo' IMP biosynthetic process (GO:0006189)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphoribosylformylglycinamidine synthase activity (GO:0004642)			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamine(DB00130)	GCCAGGCCTCGTGCTGGAGGT	0.662													G|||	1	0.000199681	0.0	0.0	5008	,	,		19676	0.0		0.0	False		,,,				2504	0.001					ENST00000314666.6		NA																	0				central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35						c.(2857-2859)Gtg>Atg		phosphoribosylformylglycinamidine synthase	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						54.0	51.0	52.0					17																	8170106		2203	4300	6503	SO:0001583	missense	5198				'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding	g.chr17:8170106G>A	AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	6.3.5.3		8863	protein-coding gene	gene with protein product	"""FGAR amidotransferase"""	602133				8110788	Standard	NM_012393		Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.2857G>A	17.37:g.8170106G>A	ENSP00000313490:p.Val953Met	False	False		Somatic	0				PFAS_ENST00000545834.1_Missense_Mutation_p.V529M	p.V953M	NM_012393.2	NP_036525.1	WXS	Illumina HiSeq	Phase_I	O15067	PUR4_HUMAN			23	2990	+			953					A6H8V8	Missense_Mutation	SNP	ENST00000314666.6	37	c.2857G>A	CCDS11136.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.799131	0.90538	.	.	ENSG00000178921	ENST00000545834;ENST00000314666;ENST00000546020	T;T	0.39997	1.05;1.05	5.24	5.24	0.73138	AIR synthase-related protein, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.73521	0.3597	H	0.94542	3.55	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.69479	0.964;0.964	T	0.81758	-0.0786	10	0.87932	D	0	-17.4026	16.6687	0.85260	0.0:0.0:1.0:0.0	.	953;953	A8K8N7;O15067	.;PUR4_HUMAN	M	529;953;362	ENSP00000441706:V529M;ENSP00000313490:V953M	ENSP00000313490:V953M	V	+	1	0	PFAS	8110831	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	6.109000	0.71528	2.605000	0.88082	0.561000	0.74099	GTG		0.662	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226994.2	0			17:8170106
CUBN	8029	broad.mit.edu	37	10	16882333	16882333	+	Missense_Mutation	SNP	G	G	A	rs150358307	byFrequency	TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr10:16882333G>A	ENST00000377833.4	-	62	10093	c.10028C>T	c.(10027-10029)cCg>cTg	p.P3343L		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3343	CUB 25. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGTTACCTGCGGTGAGTCCTG	0.423													G|||	5	0.000998403	0.0	0.0	5008	,	,		16306	0.001		0.0	False		,,,				2504	0.0041					ENST00000377833.4		NA																	0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(10027-10029)cCg>cTg		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	G	LEU/PRO	0,4406		0,0,2203	94.0	80.0	85.0		10028	0.6	0.1	10	dbSNP_134	85	4,8596	3.7+/-12.6	0,4,4296	yes	missense	CUBN	NM_001081.3	98	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	benign	3343/3624	16882333	4,13002	2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16882333G>A	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.10028C>T	10.37:g.16882333G>A	ENSP00000367064:p.Pro3343Leu	False	False		Somatic	0					p.P3343L	NM_001081.3	NP_001072.2	WXS	Illumina HiSeq	Phase_I	O60494	CUBN_HUMAN			62	10093	-			3343			CUB 25.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.10028C>T	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	G	6.344	0.431511	0.12045	0.0	4.65E-4	ENSG00000107611	ENST00000377833;ENST00000545090	T	0.17054	2.3	4.74	0.6	0.17524	CUB (5);	0.659654	0.12465	N	0.466572	T	0.16085	0.0387	M	0.71581	2.175	0.09310	N	0.999999	P	0.46912	0.886	B	0.40410	0.328	T	0.14755	-1.0461	10	0.36615	T	0.2	.	3.4857	0.07618	0.1517:0.1351:0.5736:0.1397	.	3343	O60494	CUBN_HUMAN	L	3343;184	ENSP00000367064:P3343L	ENSP00000367064:P3343L	P	-	2	0	CUBN	16922339	0.602000	0.26916	0.058000	0.19502	0.142000	0.21351	1.757000	0.38400	0.061000	0.16311	0.561000	0.74099	CCG		0.423	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	0	NM_001081		10:16882333
