#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
ESPN	83715	broad.mit.edu	37	1	6505817	6505879	+	In_Frame_Del	DEL	CACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	CACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	-	rs530882053|rs139266211	byFrequency	TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	CACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	CACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	-	-	CACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	CACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr1:6505817_6505879delCACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	ENST00000377828.1	+	7	1454_1516	c.1286_1348delCACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	c.(1285-1350)acacccccaccacccccacccagcttccccccgccacccccgcccccaggcacccaactgccccca>aca	p.PPPPPPSFPPPPPPPGTQLPP430del	ESPN_ENST00000416731.1_5'Flank|ESPN_ENST00000461727.1_5'Flank|RP1-202O8.2_ENST00000419034.1_RNA	NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN	espin	430	Pro-rich.				locomotory behavior (GO:0007626)|negative regulation of cytoskeleton organization (GO:0051494)|parallel actin filament bundle assembly (GO:0030046)|positive regulation of filopodium assembly (GO:0051491)|sensory perception of sound (GO:0007605)	brush border (GO:0005903)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|microvillus (GO:0005902)|stereocilium bundle tip (GO:0032426)	actin filament binding (GO:0051015)|SH3 domain binding (GO:0017124)			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		GGGAAGcccacacccccaccacccccacccagcttccccccgccacccccgcccccaggcacccaactgcccccacccccacc	0.65																																						ENST00000377828.1		NA																	0				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17						c.(1285-1350)acacccccaccacccccacccagcttccccccgccacccccgcccccaggcacccaactgccccca>aca		espin																																				SO:0001651	inframe_deletion	83715				sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	actin filament binding|SH3 domain binding	g.chr1:6505817_6505879delCACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	AF134401	CCDS70.1	1p36.31	2013-01-10			ENSG00000187017	ENSG00000187017		"""Ankyrin repeat domain containing"""	13281	protein-coding gene	gene with protein product		606351	"""deafness, autosomal recessive 36"""	DFNB36		10975527, 15286153	Standard	NM_031475		Approved		uc001amy.3	B1AK53	OTTHUMG00000000753	ENST00000377828.1:c.1286_1348delCACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	1.37:g.6505817_6505879delCACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	ENSP00000367059:p.Pro430_Pro450del	True	False		Somatic	1				RP1-202O8.2_ENST00000419034.1_RNA	p.PPPPPPSFPPPPPPPGTQLPP430del	NM_031475.2	NP_113663.2	WXS	Illumina HiSeq	Phase_I	B1AK53	ESPN_HUMAN		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)	7	1454_1516	+	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)	430			Pro-rich.		Q6XYB2|Q9H0A2|Q9Y329	In_Frame_Del	DEL	ENST00000377828.1	37	c.1286_1348delCACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	CCDS70.1																																																																																				0.650	ESPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001887.3	0	NM_031475		1:6505817
SMPD1	6609	broad.mit.edu	37	11	6411931	6411954	+	In_Frame_Del	DEL	CTGGTGCTGGCGCTGGCGCTGGCG	CTGGTGCTGGCGCTGGCGCTGGCG	-	rs550365194|rs550067660|rs1050228|rs61729852|rs200577287|rs141685473|rs71467507|rs71056748|rs78250081|rs571806745|rs558809956|rs3838786|rs377374691|rs201367689	byFrequency	TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	CTGGTGCTGGCGCTGGCGCTGGCG	CTGGTGCTGGCGCTGGCGCTGGCG	-	-	CTGGTGCTGGCGCTGGCGCTGGCG	CTGGTGCTGGCGCTGGCGCTGGCG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr11:6411931_6411954delCTGGTGCTGGCGCTGGCGCTGGCG	ENST00000342245.4	+	1	271_294	c.103_126delCTGGTGCTGGCGCTGGCGCTGGCG	c.(103-126)ctggtgctggcgctggcgctggcgdel	p.LVLALALA35del	SMPD1_ENST00000299397.3_In_Frame_Del_p.LVLALALA35del|SMPD1_ENST00000527275.1_In_Frame_Del_p.LVLALALA35del|SMPD1_ENST00000356761.2_In_Frame_Del_p.LVLALALA35del|SMPD1_ENST00000533196.1_3'UTR	NM_000543.4|NM_001007593.2	NP_000534.3|NP_001007594.2	P17405	ASM_HUMAN	sphingomyelin phosphodiesterase 1, acid lysosomal	35				Missing (in Ref. 4; CAA42584). {ECO:0000305}.	cell death (GO:0008219)|ceramide biosynthetic process (GO:0046513)|glycosphingolipid metabolic process (GO:0006687)|negative regulation of MAP kinase activity (GO:0043407)|nervous system development (GO:0007399)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein dephosphorylation (GO:0035307)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)|sphingomyelin metabolic process (GO:0006684)|termination of signal transduction (GO:0023021)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lamellar body (GO:0042599)|lysosomal lumen (GO:0043202)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)	p.L39V(2)		breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Amlodipine(DB00381)|Chlorpromazine(DB00477)|Desipramine(DB01151)	TTGGATGGGCctggtgctggcgctggcgctggcgctggcgctgg	0.701														5	0.000998403	0.0	0.0	5008	,	,		11591	0.0		0.002	False		,,,				2504	0.0031					ENST00000342245.4		NA																	2	Substitution - Missense(2)	p.L39V(2)	pancreas(2)	breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3)	23						c.(103-126)ctggtgctggcgctggcgctggcgdel		sphingomyelin phosphodiesterase 1, acid lysosomal	Desipramine(DB01151)																																			SO:0001651	inframe_deletion	6609				cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction	lysosome	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity	g.chr11:6411931_6411954delCTGGTGCTGGCGCTGGCGCTGGCG	AB209775	CCDS31409.1, CCDS44531.1, CCDS31409.2	11p15.4-p15.1	2010-04-28	2008-02-04		ENSG00000166311	ENSG00000166311	3.1.4.12		11120	protein-coding gene	gene with protein product	"""acid sphingomyelinase"""	607608				1711683	Standard	NM_000543		Approved	ASM	uc001mcw.3	P17405	OTTHUMG00000165453	ENST00000342245.4:c.103_126delCTGGTGCTGGCGCTGGCGCTGGCG	11.37:g.6411931_6411954delCTGGTGCTGGCGCTGGCGCTGGCG	ENSP00000340409:p.Leu35_Ala42del	True	False		Somatic	1				SMPD1_ENST00000533196.1_3'UTR|SMPD1_ENST00000527275.1_In_Frame_Del_p.LVLALALA35del|SMPD1_ENST00000299397.3_In_Frame_Del_p.LVLALALA35del|SMPD1_ENST00000356761.2_In_Frame_Del_p.LVLALALA35del	p.LVLALALA35del	NM_000543.4|NM_001007593.2	NP_000534.3|NP_001007594.2	WXS	Illumina HiSeq	Phase_I	P17405	ASM_HUMAN		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	271_294	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	35	Missing (in Ref. 4; CAA42584).				A8K8M3|E9PKS3|P17406|Q13811|Q16837|Q16841	In_Frame_Del	DEL	ENST00000342245.4	37	c.103_126delCTGGTGCTGGCGCTGGCGCTGGCG	CCDS44531.1																																																																																				0.701	SMPD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384205.1	0	NM_000543		11:6411931
LCE2A	353139	broad.mit.edu	37	1	152671515	152671556	+	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	rs188756601|rs61812671|rs544324398|rs142857579|rs61812672|rs200927371|rs369853646|rs575236034	byFrequency	TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	-	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr1:152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	ENST00000368779.1	+	2	189_230	c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	c.(136-180)cccagctctgggggctgctgcggctccagctctgggggctgctgc>ccc	p.SSGGCCGSSSGGCC47del		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	47	Cys-rich.				keratinization (GO:0031424)			p.C51_G64delCCGSSSGGCCSSGG(2)|p.C51C(1)		breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTGGTCCCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTGCAGCTCTGGG	0.661																																						ENST00000368779.1		NA																	3	Deletion - In frame(2)|Substitution - coding silent(1)	p.C51_G64delCCGSSSGGCCSSGG(2)|p.C51C(1)	liver(2)|large_intestine(1)	breast(1)|large_intestine(1)|liver(2)|lung(4)	8						c.(136-180)cccagctctgggggctgctgcggctccagctctgggggctgctgc>ccc		late cornified envelope 2A																																				SO:0001651	inframe_deletion	353139				keratinization			g.chr1:152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG		CCDS1021.1	1q21.3	2008-02-05			ENSG00000187173	ENSG00000187173		"""Late cornified envelopes"""	29469	protein-coding gene	gene with protein product		612609				11698679	Standard	NM_178428		Approved	LEP9	uc001faj.3	Q5TA79	OTTHUMG00000012392	ENST00000368779.1:c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	1.37:g.152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	ENSP00000357768:p.Ser47_Cys60del	False	False		Somatic	1					p.SSGGCCGSSSGGCC47del	NM_178428.3	NP_848515.1	WXS	Illumina HiSeq	Phase_I	Q5TA79	LCE2A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	189_230	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		47			Cys-rich.		A4QMZ9	In_Frame_Del	DEL	ENST00000368779.1	37	c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CCDS1021.1																																																																																				0.661	LCE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034512.1	0	NM_178428		1:152671515
TYRO3	7301	broad.mit.edu	37	15	41857341	41857342	+	Splice_Site	INS	-	-	G	rs558156059		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr15:41857341_41857342insG	ENST00000263798.3	+	6	1007		c.e6+2		TYRO3_ENST00000559066.1_Splice_Site	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase						apoptotic cell clearance (GO:0043277)|cell adhesion (GO:0007155)|forebrain cell migration (GO:0021885)|natural killer cell differentiation (GO:0001779)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|neuron cellular homeostasis (GO:0070050)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein autophosphorylation (GO:0046777)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		ACAGTTCAGGTAGGCTCTCCGG	0.579																																						ENST00000263798.3		NA																	0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43						c.e6+2		TYRO3 protein tyrosine kinase																																				SO:0001630	splice_region_variant	7301					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr15:41857341_41857342insG	D50479	CCDS10080.1	15q15.1-q21.1	2013-02-11			ENSG00000092445	ENSG00000092445	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12446	protein-coding gene	gene with protein product		600341		RSE		7851890	Standard	NM_006293		Approved	Dtk, Brt, Tif, Sky	uc001zof.2	Q06418	OTTHUMG00000130341	ENST00000263798.3:c.783+2->G	15.37:g.41857341_41857342insG		False	False		Somatic	0				TYRO3_ENST00000559066.1_Splice_Site		NM_006293.3	NP_006284.2	WXS	Illumina HiSeq	Phase_I	Q06418	TYRO3_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)	6	1007	+		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)	NA					O14953|Q86VR3	Splice_Site	INS	ENST00000263798.3	37		CCDS10080.1																																																																																				0.579	TYRO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252693.2	0		Intron	15:41857341
GIGYF2	26058	broad.mit.edu	37	2	233708804	233708806	+	In_Frame_Del	DEL	CAA	CAA	-	rs3816334	byFrequency	TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	CAA	CAA	-	-	CAA	CAA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr2:233708804_233708806delCAA	ENST00000409547.1	+	26	3249_3251	c.2938_2940delCAA	c.(2938-2940)caadel	p.Q984del	GIGYF2_ENST00000409196.3_In_Frame_Del_p.Q978del|GIGYF2_ENST00000452341.2_In_Frame_Del_p.T823del|GIGYF2_ENST00000373563.4_In_Frame_Del_p.Q984del|GIGYF2_ENST00000373566.3_In_Frame_Del_p.Q1006del|GIGYF2_ENST00000409480.1_In_Frame_Del_p.Q1006del|GIGYF2_ENST00000409451.3_In_Frame_Del_p.Q1005del	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	984	Gln-rich.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		gcagcagcagcaacagcaacagc	0.483																																						ENST00000409547.1		NA																	0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63						c.(2938-2940)caadel		GRB10 interacting GYF protein 2																																				SO:0001651	inframe_deletion	26058				cell death		protein binding	g.chr2:233708804_233708806delCAA	U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"""Trinucleotide (CAG) repeat containing"""	11960	protein-coding gene	gene with protein product	"""GYF domain containing 2"""	612003	"""PERQ amino acid rich, with GYF domain 2"", ""PERQ amino acid rich, with GYF domain 3"", ""trinucleotide repeat containing 15"", ""Parkinson disease (autosomal recessive, early onset) 11"""	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.2938_2940delCAA	2.37:g.233708804_233708806delCAA	ENSP00000386537:p.Gln984del	True	False		Somatic	1				GIGYF2_ENST00000409451.3_In_Frame_Del_p.Q1005del|GIGYF2_ENST00000409480.1_In_Frame_Del_p.Q1006del|GIGYF2_ENST00000409196.3_In_Frame_Del_p.Q978del|GIGYF2_ENST00000373563.4_In_Frame_Del_p.Q984del|GIGYF2_ENST00000373566.3_In_Frame_Del_p.Q1006del|GIGYF2_ENST00000452341.2_In_Frame_Del_p.T823del	p.Q984del	NM_015575.3	NP_056390.2	WXS	Illumina HiSeq	Phase_I	Q6Y7W6	PERQ2_HUMAN		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)	26	3249_3251	+		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	984			Gln-rich.		A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	In_Frame_Del	DEL	ENST00000409547.1	37	c.2938_2940delCAA	CCDS33401.1																																																																																				0.483	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	0	NM_001103146		2:233708804
C1QB	713	broad.mit.edu	37	1	22987385	22987438	+	In_Frame_Del	DEL	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	rs544508692|rs148813212		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	-	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	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
SLC7A9	11136	broad.mit.edu	37	19	33334838	33334838	+	Missense_Mutation	SNP	G	G	A	rs121908484		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr19:33334838G>A	ENST00000023064.4	-	10	1188	c.997C>T	c.(997-999)Cgg>Tgg	p.R333W	SLC7A9_ENST00000587772.1_Missense_Mutation_p.R333W|SLC7A9_ENST00000590341.1_Missense_Mutation_p.R333W	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	333			R -> W (in CSNU; frequent mutation; severe loss of amino acid transport activity). {ECO:0000269|PubMed:11157794}.		amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-cystine transmembrane transporter activity (GO:0015184)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	TGACCCTCCCGGCCCGCCACG	0.567																																					GBM(181;1335 2108 9644 44178 46689)	ENST00000023064.4		NA																	0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	GRCh37	CM010449	SLC7A9	M	rs121908484	c.(997-999)Cgg>Tgg		solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	L-Cystine(DB00138)	G	TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	59.0	54.0	55.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	997,997	3.2	1.0	19	dbSNP_133	55	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	SLC7A9	NM_001126335.1,NM_014270.4	101,101	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging,probably-damaging	333/488,333/488	33334838	2,13004	2203	4300	6503	SO:0001583	missense	11136				blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding	g.chr19:33334838G>A	AF141289	CCDS12425.1	19q13.11	2013-07-19	2013-07-19		ENSG00000021488	ENSG00000021488		"""Solute carriers"""	11067	protein-coding gene	gene with protein product		604144		CSNU3		10471498	Standard	NM_014270		Approved		uc021usa.1	P82251	OTTHUMG00000180287	ENST00000023064.4:c.997C>T	19.37:g.33334838G>A	ENSP00000023064:p.Arg333Trp	True	False		Somatic	0				SLC7A9_ENST00000590341.1_Missense_Mutation_p.R333W|SLC7A9_ENST00000587772.1_Missense_Mutation_p.R333W	p.R333W	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	WXS	Illumina HiSeq	Phase_I	P82251	BAT1_HUMAN			10	1188	-	Esophageal squamous(110;0.137)		333		R -> W (in CSNU; frequent mutation; severe loss of amino acid transport activity).			B2R9A6	Missense_Mutation	SNP	ENST00000023064.4	37	c.997C>T	CCDS12425.1	.	.	.	.	.	.	.	.	.	.	G	17.82	3.484195	0.63962	2.27E-4	1.16E-4	ENSG00000021488	ENST00000023064	D	0.91792	-2.91	5.37	3.17	0.36434	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.96806	0.8957	M	0.93808	3.46	0.80722	A	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98100	1.0414	9	0.87932	D	0	.	13.9854	0.64331	0.0:0.0:0.7234:0.2766	.	333;333	Q53FY4;P82251	.;BAT1_HUMAN	W	333	ENSP00000023064:R333W	ENSP00000023064:R333W	R	-	1	2	SLC7A9	38026678	1.000000	0.71417	0.997000	0.53966	0.663000	0.39108	3.879000	0.56138	0.597000	0.29811	-0.182000	0.12963	CGG		0.567	SLC7A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450585.1	0			19:33334838
ROBO2	6092	broad.mit.edu	37	3	77600066	77600066	+	Missense_Mutation	SNP	C	C	T	rs199705591		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr3:77600066C>T	ENST00000461745.1	+	8	2057	c.1157C>T	c.(1156-1158)gCg>gTg	p.A386V	ROBO2_ENST00000332191.8_Missense_Mutation_p.A386V|ROBO2_ENST00000487694.3_Missense_Mutation_p.A402V	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	386	Ig-like C2-type 4.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CGTTCCGACGCGGGTTACTAC	0.473																																						ENST00000461745.1		NA																	0				NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117						c.(1156-1158)gCg>gTg		roundabout, axon guidance receptor, homolog 2 (Drosophila)							79.0	78.0	78.0					3																	77600066		1933	4145	6078	SO:0001583	missense	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77600066C>T	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.1157C>T	3.37:g.77600066C>T	ENSP00000417164:p.Ala386Val	True	False		Somatic	0				ROBO2_ENST00000332191.8_Missense_Mutation_p.A386V|ROBO2_ENST00000487694.3_Missense_Mutation_p.A402V	p.A386V	NM_002942.4	NP_002933.1	WXS	Illumina HiSeq	Phase_I	Q9HCK4	ROBO2_HUMAN		Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)	8	2057	+			386			Ig-like C2-type 4.		O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	c.1157C>T	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	C	14.00	2.406025	0.42715	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191;ENST00000398467	T;T;T	0.68479	-0.33;-0.33;-0.33	5.49	4.55	0.56014	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.45606	D	0.000351	T	0.75072	0.3800	L	0.50919	1.6	0.39718	D	0.971425	D;D;D	0.69078	0.995;0.997;0.995	D;D;D	0.67231	0.938;0.942;0.95	T	0.72398	-0.4306	9	0.26408	T	0.33	.	16.0733	0.80951	0.0:0.866:0.134:0.0	.	402;386;386	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	V	402;402;406;386;386;107	ENSP00000417335:A402V;ENSP00000417164:A386V;ENSP00000327536:A386V	ENSP00000327536:A386V	A	+	2	0	ROBO2	77682756	1.000000	0.71417	0.225000	0.23894	0.113000	0.19764	6.001000	0.70685	2.742000	0.94016	0.591000	0.81541	GCG		0.473	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	0	XM_031246		3:77600066
RELN	5649	broad.mit.edu	37	7	103474008	103474008	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr7:103474008G>A	ENST00000428762.1	-	3	608	c.449C>T	c.(448-450)gCg>gTg	p.A150V	RELN_ENST00000424685.2_Missense_Mutation_p.A150V|RELN_ENST00000343529.5_Missense_Mutation_p.A150V	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	150	Reelin. {ECO:0000255|PROSITE- ProRule:PRU00363}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GCCTGTGCCCGCAGGTGGAGC	0.473																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000428762.1		NA																	0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(448-450)gCg>gTg		reelin							108.0	98.0	101.0					7																	103474008		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103474008G>A		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.449C>T	7.37:g.103474008G>A	ENSP00000392423:p.Ala150Val	True	False		Somatic	0				RELN_ENST00000343529.5_Missense_Mutation_p.A150V|RELN_ENST00000424685.2_Missense_Mutation_p.A150V	p.A150V	NM_005045.3	NP_005036.2	WXS	Illumina HiSeq	Phase_I	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	3	608	-			150			Reelin.		A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.449C>T	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.172734	0.78452	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.28454	1.61;1.61;1.61	5.33	5.33	0.75918	Reeler domain (2);	0.060775	0.64402	D	0.000002	T	0.31513	0.0799	N	0.14661	0.345	0.54753	D	0.999989	D;D	0.56035	0.968;0.974	P;P	0.50708	0.516;0.648	T	0.19549	-1.0302	10	0.72032	D	0.01	.	19.3931	0.94592	0.0:0.0:1.0:0.0	.	150;150	P78509-2;P78509	.;RELN_HUMAN	V	150	ENSP00000392423:A150V;ENSP00000345694:A150V;ENSP00000388446:A150V	ENSP00000345694:A150V	A	-	2	0	RELN	103261244	1.000000	0.71417	0.875000	0.34327	0.980000	0.70556	5.819000	0.69243	2.634000	0.89283	0.650000	0.86243	GCG		0.473	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	0	NM_005045		7:103474008
ATP6V0A4	50617	broad.mit.edu	37	7	138434008	138434008	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr7:138434008C>A	ENST00000310018.2	-	12	1366	c.1084G>T	c.(1084-1086)Gcc>Tcc	p.A362S	ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.A362S|ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.A362S	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	362					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GTGGGAGGGGCTGTTTTAGAT	0.453																																						ENST00000310018.2		NA																	0				NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(1084-1086)Gcc>Tcc		ATPase, H+ transporting, lysosomal V0 subunit a4							104.0	105.0	105.0					7																	138434008		2203	4300	6503	SO:0001583	missense	50617				cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	g.chr7:138434008C>A	AF245517	CCDS5849.1	7q34	2011-06-09	2006-01-20	2002-05-10	ENSG00000105929	ENSG00000105929		"""ATPases / V-type"""	866	protein-coding gene	gene with protein product		605239	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 4"", ""ATPase, H+ transporting, lysosomal V0 subunit A4"""	ATP6N1B, ATP6N2, RTA1C		10577919, 10973252	Standard	XM_005250393		Approved	RDRTA2, VPP2, RTADR, a4, Vph1, Stv1	uc003vuf.3	Q9HBG4	OTTHUMG00000157122	ENST00000310018.2:c.1084G>T	7.37:g.138434008C>A	ENSP00000308122:p.Ala362Ser	True	False		Somatic	0				ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.A362S|ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.A362S	p.A362S	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	WXS	Illumina HiSeq	Phase_I	Q9HBG4	VPP4_HUMAN			12	1366	-			362					A4D1R4|A8KA80|Q32M47	Missense_Mutation	SNP	ENST00000310018.2	37	c.1084G>T	CCDS5849.1	.	.	.	.	.	.	.	.	.	.	C	5.791	0.330340	0.10956	.	.	ENSG00000105929	ENST00000310018;ENST00000393054;ENST00000353492	D;D;D	0.85629	-2.01;-2.01;-2.01	5.13	4.04	0.47022	.	0.458554	0.21405	N	0.075080	T	0.76572	0.4006	N	0.20445	0.575	0.29415	N	0.860951	B	0.28584	0.216	B	0.34038	0.174	T	0.69412	-0.5152	10	0.25751	T	0.34	-4.7235	14.5017	0.67727	0.0:0.9161:0.0:0.0839	.	362	Q9HBG4	VPP4_HUMAN	S	362	ENSP00000308122:A362S;ENSP00000376774:A362S;ENSP00000253856:A362S	ENSP00000308122:A362S	A	-	1	0	ATP6V0A4	138084548	0.985000	0.35326	0.722000	0.30670	0.078000	0.17371	0.936000	0.28938	2.398000	0.81561	0.561000	0.74099	GCC		0.453	ATP6V0A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347514.1	0	NM_020632		7:138434008
FAM71B	153745	broad.mit.edu	37	5	156592698	156592698	+	Missense_Mutation	SNP	C	C	A	rs146865558		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr5:156592698C>A	ENST00000302938.4	-	1	577	c.482G>T	c.(481-483)cGg>cTg	p.R161L		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	161						nucleus (GO:0005634)		p.R161L(1)		NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GAGATCTTCCCGTGTGTCAGA	0.498																																						ENST00000302938.4		NA																	1	Substitution - Missense(1)	p.R161L(1)	lung(1)	NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						c.(481-483)cGg>cTg		family with sequence similarity 71, member B							129.0	132.0	131.0					5																	156592698		2203	4300	6503	SO:0001583	missense	153745					nucleus		g.chr5:156592698C>A		CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.482G>T	5.37:g.156592698C>A	ENSP00000305596:p.Arg161Leu	True	False		Somatic	0					p.R161L	NM_130899.2	NP_570969.2	WXS	Illumina HiSeq	Phase_I	Q8TC56	FA71B_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		1	577	-	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	161					Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	ENST00000302938.4	37	c.482G>T	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	C	15.63	2.888978	0.52014	.	.	ENSG00000170613	ENST00000302938	T	0.17054	2.3	4.56	4.56	0.56223	.	0.345278	0.24813	N	0.035395	T	0.36853	0.0982	M	0.62154	1.92	0.09310	N	1	D	0.65815	0.995	D	0.69479	0.964	T	0.06807	-1.0806	10	0.54805	T	0.06	-3.8761	13.5619	0.61795	0.0:1.0:0.0:0.0	.	161	Q8TC56	FA71B_HUMAN	L	161	ENSP00000305596:R161L	ENSP00000305596:R161L	R	-	2	0	FAM71B	156525276	0.027000	0.19231	0.010000	0.14722	0.624000	0.37722	1.032000	0.30178	2.469000	0.83416	0.655000	0.94253	CGG		0.498	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	0	NM_130899		5:156592698
OR52M1	119772	broad.mit.edu	37	11	4566917	4566917	+	Missense_Mutation	SNP	G	G	A	rs529200501		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr11:4566917G>A	ENST00000360213.1	+	1	497	c.497G>A	c.(496-498)cGc>cAc	p.R166H		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	166						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTGATGATCCGCCTGCGGCTG	0.522													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18716	0.0		0.0	False		,,,				2504	0.0					ENST00000360213.1		NA																	0				endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						c.(496-498)cGc>cAc		olfactory receptor, family 52, subfamily M, member 1							102.0	103.0	103.0					11																	4566917		2201	4298	6499	SO:0001583	missense	119772				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4566917G>A	AB065789	CCDS31353.1	11p15.4	2012-08-09	2002-11-13	2002-11-15	ENSG00000197790	ENSG00000197790		"""GPCR / Class A : Olfactory receptors"""	15225	protein-coding gene	gene with protein product			"""olfactory receptor, family 52, subfamily M, member 1 pseudogene"""	OR52M1P			Standard	NM_001004137		Approved		uc010qyf.2	Q8NGK5	OTTHUMG00000165706	ENST00000360213.1:c.497G>A	11.37:g.4566917G>A	ENSP00000353343:p.Arg166His	False	False		Somatic	0					p.R166H	NM_001004137.1	NP_001004137.1	WXS	Illumina HiSeq	Phase_I	Q8NGK5	O52M1_HUMAN		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	497	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	166						Missense_Mutation	SNP	ENST00000360213.1	37	c.497G>A	CCDS31353.1	.	.	.	.	.	.	.	.	.	.	G	10.31	1.315172	0.23908	.	.	ENSG00000197790	ENST00000360213	T	0.00137	8.68	4.98	2.09	0.27110	GPCR, rhodopsin-like superfamily (1);	0.142760	0.32593	N	0.005884	T	0.00144	0.0004	L	0.55834	1.745	0.09310	N	0.999994	B	0.17852	0.024	B	0.16722	0.016	T	0.40979	-0.9534	10	0.62326	D	0.03	.	4.9553	0.14036	0.3208:0.143:0.5362:0.0	.	166	Q8NGK5	O52M1_HUMAN	H	166	ENSP00000353343:R166H	ENSP00000353343:R166H	R	+	2	0	OR52M1	4523493	0.000000	0.05858	0.122000	0.21767	0.864000	0.49448	-1.025000	0.03600	0.389000	0.25086	-0.133000	0.14855	CGC		0.522	OR52M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385847.1	0	NM_001004137		11:4566917
COL6A2	1292	broad.mit.edu	37	21	47549129	47549129	+	Intron	SNP	C	C	T	rs537764742		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr21:47549129C>T	ENST00000300527.4	+	27	2565				COL6A2_ENST00000357838.4_Silent_p.G827G|COL6A2_ENST00000397763.1_Silent_p.G827G|COL6A2_ENST00000409416.1_3'UTR|COL6A2_ENST00000310645.5_3'UTR	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GGCCTGGCGGCGAGCCCCCGG	0.672													C|||	1	0.000199681	0.0008	0.0	5008	,	,		14220	0.0		0.0	False		,,,				2504	0.0					ENST00000357838.4		NA																	0				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(2479-2481)ggC>ggT		collagen, type VI, alpha 2							55.0	60.0	59.0					21																	47549129		2201	4299	6500	SO:0001627	intron_variant	0				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	g.chr21:47549129C>T	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"""Collagens"""	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.2461+2674C>T	21.37:g.47549129C>T		False	False		Somatic	0				COL6A2_ENST00000409416.1_3'UTR|COL6A2_ENST00000310645.5_3'UTR|COL6A2_ENST00000300527.4_Intron|COL6A2_ENST00000397763.1_Silent_p.G827G	p.G827G	NM_058174.2	NP_478054.2	WXS	Illumina HiSeq	Phase_I	P12110	CO6A2_HUMAN		Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)	28	2563	+	Breast(49;0.245)		564			Nonhelical region.		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Silent	SNP	ENST00000300527.4	37	c.2481C>T	CCDS13728.1																																																																																				0.672	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1	0			21:47549129
CENPI	2491	broad.mit.edu	37	X	100357364	100357364	+	Missense_Mutation	SNP	G	G	T			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chrX:100357364G>T	ENST00000372927.1	+	3	605	c.328G>T	c.(328-330)Gat>Tat	p.D110Y	CENPI_ENST00000423383.1_Missense_Mutation_p.D110Y|CENPI_ENST00000218507.5_Missense_Mutation_p.D110Y|CENPI_ENST00000372926.1_Missense_Mutation_p.D110Y	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I	110					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)|sex differentiation (GO:0007548)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						AGAAGAAATTGATATTCTATT	0.313																																						ENST00000372927.1		NA																	0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						c.(328-330)Gat>Tat		centromere protein I							105.0	110.0	109.0					X																	100357364		2203	4299	6502	SO:0001583	missense	2491				CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding	g.chrX:100357364G>T	X97249	CCDS14479.1	Xq22.1	2013-11-05	2006-06-15	2006-06-15	ENSG00000102384	ENSG00000102384			3968	protein-coding gene	gene with protein product		300065	"""FSH primary response (LRPR1, rat) homolog 1"", ""FSH primary response (LRPR1 homolog, rat) 1"""	FSHPRH1		16622420	Standard	NM_006733		Approved	LRPR1, CENP-I, Mis6	uc004egx.3	Q92674	OTTHUMG00000022018	ENST00000372927.1:c.328G>T	X.37:g.100357364G>T	ENSP00000362018:p.Asp110Tyr	False	False		Somatic	0				CENPI_ENST00000423383.1_Missense_Mutation_p.D110Y|CENPI_ENST00000218507.5_Missense_Mutation_p.D110Y|CENPI_ENST00000372926.1_Missense_Mutation_p.D110Y	p.D110Y	NM_006733.2	NP_006724.2	WXS	Illumina HiSeq	Phase_I	Q92674	CENPI_HUMAN			3	605	+			110					Q5JWZ9|Q96ED0	Missense_Mutation	SNP	ENST00000372927.1	37	c.328G>T	CCDS14479.1	.	.	.	.	.	.	.	.	.	.	G	13.90	2.375305	0.42105	.	.	ENSG00000102384	ENST00000423383;ENST00000218507;ENST00000372926;ENST00000372927	.	.	.	5.17	5.17	0.71159	.	0.166479	0.56097	D	0.000022	T	0.72145	0.3424	M	0.73598	2.24	0.41511	D	0.988343	P;P	0.36144	0.539;0.539	P;P	0.48704	0.587;0.587	T	0.74780	-0.3549	9	0.54805	T	0.06	-13.5932	12.7388	0.57239	0.0:0.1604:0.8396:0.0	.	110;110	B4DZL4;Q92674	.;CENPI_HUMAN	Y	110	.	ENSP00000218507:D110Y	D	+	1	0	CENPI	100244020	0.915000	0.31059	1.000000	0.80357	0.481000	0.33189	2.439000	0.44846	2.276000	0.75962	0.538000	0.68166	GAT		0.313	CENPI-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057519.1	0	NM_006733		X:100357364
KCNH5	27133	broad.mit.edu	37	14	63269191	63269191	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr14:63269191G>A	ENST00000322893.7	-	9	1946	c.1678C>T	c.(1678-1680)Cgc>Tgc	p.R560C	KCNH5_ENST00000394968.1_Missense_Mutation_p.R502C|KCNH5_ENST00000420622.2_Missense_Mutation_p.R560C	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	560					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GCCAAGGCGCGCAGACACCCA	0.512																																						ENST00000322893.7		NA																	0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99						c.(1678-1680)Cgc>Tgc		potassium voltage-gated channel, subfamily H (eag-related), member 5							82.0	77.0	79.0					14																	63269191		2203	4300	6503	SO:0001583	missense	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63269191G>A	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.1678C>T	14.37:g.63269191G>A	ENSP00000321427:p.Arg560Cys	True	False		Somatic	0				KCNH5_ENST00000394968.1_Missense_Mutation_p.R502C|KCNH5_ENST00000420622.2_Missense_Mutation_p.R560C	p.R560C	NM_139318.3	NP_647479.2	WXS	Illumina HiSeq	Phase_I	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	9	1946	-			560					C9JP98	Missense_Mutation	SNP	ENST00000322893.7	37	c.1678C>T	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.948501	0.73787	.	.	ENSG00000140015	ENST00000322893;ENST00000420622;ENST00000394968	D;D;D	0.96940	-4.18;-4.18;-4.18	5.13	4.22	0.49857	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.98413	0.9472	M	0.91038	3.17	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99564	1.0969	10	0.87932	D	0	.	15.7242	0.77740	0.0:0.1373:0.8627:0.0	.	502;560;560	Q8NCM2-3;Q8NCM2-2;Q8NCM2	.;.;KCNH5_HUMAN	C	560;560;502	ENSP00000321427:R560C;ENSP00000395439:R560C;ENSP00000378419:R502C	ENSP00000321427:R560C	R	-	1	0	KCNH5	62338944	1.000000	0.71417	0.977000	0.42913	0.897000	0.52465	5.628000	0.67791	1.265000	0.44215	0.563000	0.77884	CGC		0.512	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	0	NM_139318		14:63269191
MED12L	116931	broad.mit.edu	37	3	151082925	151082925	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr3:151082925C>T	ENST00000474524.1	+	20	3049	c.3011C>T	c.(3010-3012)gCg>gTg	p.A1004V	P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Missense_Mutation_p.A864V	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1004						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGTGACAATGCGGCCAATCGC	0.473																																						ENST00000474524.1		NA																	0				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128						c.(3010-3012)gCg>gTg		mediator complex subunit 12-like							208.0	197.0	201.0					3																	151082925		2203	4300	6503	SO:0001583	missense	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151082925C>T	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.3011C>T	3.37:g.151082925C>T	ENSP00000417235:p.Ala1004Val	False	False		Somatic	0				MED12L_ENST00000273432.4_Missense_Mutation_p.A864V|P2RY12_ENST00000302632.3_Intron	p.A1004V	NM_053002.4	NP_443728.3	WXS	Illumina HiSeq	Phase_I	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		20	3049	+			1004					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	c.3011C>T	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.446722	0.84101	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	T;T	0.77098	-1.07;-1.07	5.6	5.6	0.85130	.	0.171136	0.52532	D	0.000067	T	0.68952	0.3057	N	0.24115	0.695	0.80722	D	1	P;D;D	0.57571	0.87;0.976;0.98	B;B;B	0.41723	0.358;0.211;0.365	T	0.72849	-0.4168	10	0.49607	T	0.09	-19.482	19.5844	0.95485	0.0:1.0:0.0:0.0	.	864;1003;1004	F8WAE6;Q86YW9-4;Q86YW9	.;.;MD12L_HUMAN	V	1004;864	ENSP00000417235:A1004V;ENSP00000273432:A864V	ENSP00000273432:A864V	A	+	2	0	MED12L	152565615	0.998000	0.40836	0.755000	0.31263	0.995000	0.86356	5.463000	0.66712	2.786000	0.95864	0.650000	0.86243	GCG		0.473	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	0	NM_053002		3:151082925
TEP1	7011	broad.mit.edu	37	14	20858856	20858856	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr14:20858856G>A	ENST00000262715.5	-	15	2358	c.2318C>T	c.(2317-2319)gCt>gTt	p.A773V	TEP1_ENST00000556935.1_Missense_Mutation_p.A665V	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	773					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CCTTTGGCCAGCCAGAGACAG	0.438																																						ENST00000262715.5		NA																	0				NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96						c.(2317-2319)gCt>gTt		telomerase-associated protein 1							88.0	82.0	84.0					14																	20858856		2203	4300	6503	SO:0001583	missense	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20858856G>A		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.2318C>T	14.37:g.20858856G>A	ENSP00000262715:p.Ala773Val	True	False		Somatic	0				TEP1_ENST00000556935.1_Missense_Mutation_p.A665V	p.A773V	NM_007110.4	NP_009041.2	WXS	Illumina HiSeq	Phase_I	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	15	2358	-	all_cancers(95;0.00123)	all_lung(585;0.235)	773					A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	c.2318C>T	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	G	4.876	0.162909	0.09287	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935	T;T	0.44482	0.96;0.92	4.98	4.09	0.47781	.	0.560122	0.19177	N	0.120783	T	0.28928	0.0718	L	0.45137	1.4	0.80722	D	1	B;B;B	0.20261	0.043;0.008;0.025	B;B;B	0.18263	0.021;0.01;0.009	T	0.04855	-1.0922	10	0.07175	T	0.84	-3.4708	8.5875	0.33666	0.1009:0.0:0.8991:0.0	.	665;123;773	G3V5X7;G3V2A4;Q99973	.;.;TEP1_HUMAN	V	773;773;665	ENSP00000262715:A773V;ENSP00000452574:A665V	ENSP00000262715:A773V	A	-	2	0	TEP1	19928696	0.995000	0.38212	0.997000	0.53966	0.950000	0.60333	2.649000	0.46656	2.756000	0.94617	0.655000	0.94253	GCT		0.438	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	0	NM_007110		14:20858856
BRWD3	254065	broad.mit.edu	37	X	79971738	79971738	+	Missense_Mutation	SNP	T	T	A			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chrX:79971738T>A	ENST00000373275.4	-	20	2459	c.2243A>T	c.(2242-2244)gAa>gTa	p.E748V	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	748					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						AGTTCGACATTCTTCCTGTAC	0.299																																						ENST00000373275.4		NA																	0				breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						c.(2242-2244)gAa>gTa		bromodomain and WD repeat domain containing 3							148.0	127.0	134.0					X																	79971738		2202	4298	6500	SO:0001583	missense	254065							g.chrX:79971738T>A		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.2243A>T	X.37:g.79971738T>A	ENSP00000362372:p.Glu748Val	False	False		Somatic	0				BRWD3_ENST00000473691.1_5'UTR	p.E748V	NM_153252.4	NP_694984	WXS	Illumina HiSeq	Phase_I	Q6RI45	BRWD3_HUMAN			20	2459	-			748					C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	c.2243A>T	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	T	15.04	2.715517	0.48622	.	.	ENSG00000165288	ENST00000373275	T	0.32515	1.45	5.17	5.17	0.71159	.	0.046697	0.85682	D	0.000000	T	0.36331	0.0963	M	0.74258	2.255	0.48762	D	0.999702	B	0.27068	0.167	B	0.29598	0.104	T	0.15636	-1.0430	9	.	.	.	-9.7094	14.1257	0.65219	0.0:0.0:0.0:1.0	.	748	Q6RI45	BRWD3_HUMAN	V	748	ENSP00000362372:E748V	.	E	-	2	0	BRWD3	79858394	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	4.488000	0.60300	1.910000	0.55303	0.441000	0.28932	GAA		0.299	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	0	NM_153252		X:79971738
CYB561	1534	broad.mit.edu	37	17	61513435	61513435	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr17:61513435G>A	ENST00000392976.1	-	3	580	c.281C>T	c.(280-282)gCg>gTg	p.A94V	CYB561_ENST00000582997.1_Missense_Mutation_p.A101V|CYB561_ENST00000448884.2_Missense_Mutation_p.A94V|CYB561_ENST00000584031.1_Missense_Mutation_p.A94V|CYB561_ENST00000392975.2_Missense_Mutation_p.A94V|CYB561_ENST00000582297.1_Missense_Mutation_p.A94V|CYB561_ENST00000581163.1_5'UTR|CYB561_ENST00000581573.1_Missense_Mutation_p.A94V|CYB561_ENST00000542042.1_Missense_Mutation_p.A161V|CYB561_ENST00000360793.3_Missense_Mutation_p.A94V|CYB561_ENST00000582034.1_Missense_Mutation_p.A65V	NM_001017916.1	NP_001017916.1	P49447	CY561_HUMAN	cytochrome b561	94	Cytochrome b561. {ECO:0000255|PROSITE- ProRule:PRU00242}.				electron transport chain (GO:0022900)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)|transmembrane electron transfer carrier (GO:0022865)			lung(2)|ovary(1)|prostate(1)	4				READ - Rectum adenocarcinoma(1115;0.0689)		GATGACGAGCGCAAAGATGTG	0.612																																						ENST00000584031.1		NA																	0				lung(2)|ovary(1)|prostate(1)	4						c.(280-282)gCg>gTg		cytochrome b561							141.0	118.0	126.0					17																	61513435		2203	4300	6503	SO:0001583	missense	1534				electron transport chain|transport	integral to plasma membrane	cytochrome-b5 reductase activity|ferric-chelate reductase activity|metal ion binding	g.chr17:61513435G>A		CCDS11636.1	17q23.3	2013-03-14	2013-03-14		ENSG00000008283	ENSG00000008283		"""Cytochrome b genes"""	2571	protein-coding gene	gene with protein product	"""ferric-chelate reductase 2"", ""cytochrome b561 family, member A1"""	600019				7959749, 23249217	Standard	XM_005257091		Approved	FRRS2, CYB561A1	uc002jas.3	P49447		ENST00000392976.1:c.281C>T	17.37:g.61513435G>A	ENSP00000376702:p.Ala94Val	False	False		Somatic	0				CYB561_ENST00000448884.2_Missense_Mutation_p.A94V|CYB561_ENST00000582297.1_Missense_Mutation_p.A94V|CYB561_ENST00000542042.1_Missense_Mutation_p.A161V|CYB561_ENST00000581573.1_Missense_Mutation_p.A94V|CYB561_ENST00000582034.1_Missense_Mutation_p.A65V|CYB561_ENST00000581163.1_5'UTR|CYB561_ENST00000392976.1_Missense_Mutation_p.A94V|CYB561_ENST00000582997.1_Missense_Mutation_p.A101V|CYB561_ENST00000392975.2_Missense_Mutation_p.A94V|CYB561_ENST00000360793.3_Missense_Mutation_p.A94V	p.A94V			WXS	Illumina HiSeq	Phase_I	P49447	CY561_HUMAN		READ - Rectum adenocarcinoma(1115;0.0689)	3	580	-			94			Cytochrome b561.		B2RE96|B7Z775|D3DU11|Q5BJG9|Q9BU05|Q9BWR9	Missense_Mutation	SNP	ENST00000392976.1	37	c.281C>T	CCDS11636.1	.	.	.	.	.	.	.	.	.	.	G	10.73	1.431165	0.25726	.	.	ENSG00000008283	ENST00000360793;ENST00000392976;ENST00000392975;ENST00000448884;ENST00000542042	T;T;T;T;T	0.54071	0.59;0.59;0.59;0.59;0.59	4.34	4.34	0.51931	Cytochrome b561, eukaryote (1);Cytochrome b561/ferric reductase transmembrane (2);	0.055735	0.64402	D	0.000001	T	0.71500	0.3347	M	0.78285	2.405	0.80722	D	1	D;D;D;D	0.89917	0.997;1.0;0.998;0.984	P;D;P;P	0.91635	0.893;0.999;0.827;0.68	T	0.74702	-0.3576	10	0.54805	T	0.06	-16.3975	13.7194	0.62717	0.0:0.0:1.0:0.0	.	94;94;161;94	B7Z775;B3KTA1;F5H757;P49447	.;.;.;CY561_HUMAN	V	94;94;94;94;161	ENSP00000354028:A94V;ENSP00000376702:A94V;ENSP00000376701:A94V;ENSP00000400350:A94V;ENSP00000442773:A161V	ENSP00000354028:A94V	A	-	2	0	CYB561	58867167	1.000000	0.71417	0.095000	0.20976	0.024000	0.10985	7.913000	0.87471	2.244000	0.73946	0.561000	0.74099	GCG		0.612	CYB561-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444843.1	0	NM_001915		17:61513435
WWC3	55841	broad.mit.edu	37	X	10102530	10102530	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chrX:10102530A>G	ENST00000380861.4	+	19	3048	c.2657A>G	c.(2656-2658)aAg>aGg	p.K886R	WWC3_ENST00000454666.1_Missense_Mutation_p.K886R	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	886					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						AGCCTCGTGAAGGAGCGGCCC	0.547																																						ENST00000380861.4		NA																	0				NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						c.(2656-2658)aAg>aGg		WWC family member 3							103.0	108.0	106.0					X																	10102530		2203	4300	6503	SO:0001583	missense	55841							g.chrX:10102530A>G	AK091936	CCDS14136.1	Xp22.32	2008-02-05			ENSG00000047644	ENSG00000047644		"""WW, C2 and coiled-coil domain containing"""	29237	protein-coding gene	gene with protein product						10574462	Standard	NM_015691		Approved	KIAA1280, BM042	uc004csx.4	Q9ULE0	OTTHUMG00000021123	ENST00000380861.4:c.2657A>G	X.37:g.10102530A>G	ENSP00000370242:p.Lys886Arg	False	False		Somatic	0				WWC3_ENST00000454666.1_Missense_Mutation_p.K886R	p.K886R	NM_015691.3	NP_056506.2	WXS	Illumina HiSeq	Phase_I	Q9ULE0	WWC3_HUMAN			19	3048	+			886					A8KA96|Q659C1|Q9BTQ1	Missense_Mutation	SNP	ENST00000380861.4	37	c.2657A>G	CCDS14136.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.002383	0.74932	.	.	ENSG00000047644	ENST00000380861;ENST00000454666;ENST00000543412	T;T	0.58060	0.36;0.36	5.71	5.71	0.89125	.	0.089123	0.85682	D	0.000000	T	0.66723	0.2818	M	0.86651	2.83	0.54753	D	0.999982	P	0.47106	0.89	P	0.48304	0.573	T	0.72646	-0.4230	9	.	.	.	-38.9372	15.0307	0.71705	1.0:0.0:0.0:0.0	.	886	Q9ULE0	WWC3_HUMAN	R	886;886;381	ENSP00000370242:K886R;ENSP00000399584:K886R	.	K	+	2	0	WWC3	10062530	1.000000	0.71417	0.957000	0.39632	0.066000	0.16364	8.837000	0.92110	1.932000	0.55993	0.425000	0.28330	AAG		0.547	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055725.1	0	NM_015691		X:10102530
MBNL2	10150	broad.mit.edu	37	13	97999092	97999092	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr13:97999092G>A	ENST00000376673.3	+	5	1356	c.575G>A	c.(574-576)cGg>cAg	p.R192Q	MBNL2_ENST00000397601.1_Missense_Mutation_p.R192Q|MBNL2_ENST00000345429.6_Missense_Mutation_p.R192Q|MBNL2_ENST00000343600.4_Missense_Mutation_p.R192Q|MBNL2_ENST00000445661.2_Intron			Q5VZF2	MBNL2_HUMAN	muscleblind-like splicing regulator 2	192					mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.218)			AACTGTGCCCGGGGAGAGACC	0.607																																						ENST00000345429.6		NA																	0				endometrium(4)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	17						c.(574-576)cGg>cAg		muscleblind-like splicing regulator 2							70.0	65.0	67.0					13																	97999092		2203	4300	6503	SO:0001583	missense	10150				mRNA processing|regulation of RNA splicing|RNA splicing	cytoplasm|nucleus	RNA binding|zinc ion binding	g.chr13:97999092G>A	AF061261	CCDS9483.1, CCDS9484.1	13q31.1	2013-01-18	2012-02-23		ENSG00000139793	ENSG00000139793		"""Zinc fingers, CCCH-type domain containing"""	16746	protein-coding gene	gene with protein product		607327	"""muscleblind-like 2 (Drosophila)"""			11929853	Standard	NM_207304		Approved	MBLL, MBLL39	uc001vmz.4	Q5VZF2	OTTHUMG00000017239	ENST00000376673.3:c.575G>A	13.37:g.97999092G>A	ENSP00000365861:p.Arg192Gln	True	False		Somatic	0				MBNL2_ENST00000343600.4_Missense_Mutation_p.R192Q|MBNL2_ENST00000376673.3_Missense_Mutation_p.R192Q|MBNL2_ENST00000445661.2_Intron|MBNL2_ENST00000397601.1_Missense_Mutation_p.R192Q	p.R192Q	NM_144778.3	NP_659002.1	WXS	Illumina HiSeq	Phase_I	Q5VZF2	MBNL2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.218)		5	1356	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		192					Q3SXY5|Q58F19|Q8NEV3|Q8TD82	Missense_Mutation	SNP	ENST00000376673.3	37	c.575G>A		.	.	.	.	.	.	.	.	.	.	G	37	6.122025	0.97300	.	.	ENSG00000139793	ENST00000397601;ENST00000343600;ENST00000345429;ENST00000376673	T;T;T;T	0.51071	0.72;0.72;0.72;0.72	5.95	5.95	0.96441	Zinc finger, CCCH-type (3);	0.053503	0.85682	D	0.000000	T	0.77308	0.4111	M	0.91090	3.175	0.80722	D	1	D;D;D	0.89917	1.0;0.995;0.997	D;D;P	0.78314	0.991;0.92;0.898	T	0.81185	-0.1048	10	0.87932	D	0	.	20.4024	0.99000	0.0:0.0:1.0:0.0	.	192;192;192	Q5VZF2;A2A3S3;Q5VZF2-2	MBNL2_HUMAN;.;.	Q	192	ENSP00000380726:R192Q;ENSP00000344214:R192Q;ENSP00000267287:R192Q;ENSP00000365861:R192Q	ENSP00000344214:R192Q	R	+	2	0	MBNL2	96797093	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.854000	0.99522	2.827000	0.97445	0.650000	0.86243	CGG		0.607	MBNL2-202	KNOWN	basic	protein_coding	protein_coding		0	NM_144778		13:97999092
TROAP	10024	broad.mit.edu	37	12	49717988	49717988	+	Intron	SNP	C	C	T			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr12:49717988C>T	ENST00000257909.3	+	3	413				TROAP_ENST00000551245.1_Intron|RP11-161H23.9_ENST00000553259.1_RNA|TROAP_ENST00000380327.5_Missense_Mutation_p.P130S|TROAP_ENST00000548311.1_Intron|TROAP_ENST00000547923.1_5'Flank|TROAP_ENST00000549275.1_Intron|TROAP_ENST00000549534.1_3'UTR|TROAP_ENST00000550709.1_3'UTR	NM_005480.3	NP_005471.3	Q12815	TROAP_HUMAN	trophinin associated protein						cell adhesion (GO:0007155)	cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						ATCTCCCTTTCCTCCAGCAAA	0.522																																						ENST00000380327.5		NA																	0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						c.(388-390)Cct>Tct		trophinin associated protein							73.0	76.0	75.0					12																	49717988		2160	4285	6445	SO:0001627	intron_variant	10024				cell adhesion	cytoplasm		g.chr12:49717988C>T	U04810	CCDS8784.1, CCDS41779.1, CCDS61117.1	12q13.12	2012-10-17	2012-10-17		ENSG00000135451	ENSG00000135451			12327	protein-coding gene	gene with protein product	"""tastin"""	603872				7758945	Standard	NM_005480		Approved	TASTIN	uc001rtx.4	Q12815	OTTHUMG00000169486	ENST00000257909.3:c.337+168C>T	12.37:g.49717988C>T		True	False		Somatic	0				TROAP_ENST00000257909.3_Intron|TROAP_ENST00000551245.1_Intron|RP11-161H23.9_ENST00000553259.1_RNA|TROAP_ENST00000548311.1_Intron|TROAP_ENST00000549275.1_Intron|TROAP_ENST00000550709.1_3'UTR|TROAP_ENST00000549534.1_3'UTR	p.P130S	NM_001100620.1	NP_001094090.1	WXS	Illumina HiSeq	Phase_I	Q12815	TROAP_HUMAN			4	488	+			335					F8VSF9|Q6PJU7|Q8N5B2	Missense_Mutation	SNP	ENST00000257909.3	37	c.388C>T	CCDS8784.1	.	.	.	.	.	.	.	.	.	.	C	10.43	1.347924	0.24426	.	.	ENSG00000135451	ENST00000380327	.	.	.	3.26	0.141	0.14811	.	.	.	.	.	T	0.28134	0.0694	.	.	.	0.09310	N	1	B	0.19331	0.035	B	0.14023	0.01	T	0.22487	-1.0215	7	0.54805	T	0.06	.	5.4321	0.16458	0.0:0.564:0.0:0.436	.	130	Q6PJU7	.	S	130	.	ENSP00000369684:P130S	P	+	1	0	TROAP	48004255	0.000000	0.05858	0.026000	0.17262	0.093000	0.18481	-0.158000	0.10070	0.020000	0.15106	0.563000	0.77884	CCT		0.522	TROAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404300.1	0	NM_005480		12:49717988
AGGF1	55109	broad.mit.edu	37	5	76332530	76332530	+	Silent	SNP	T	T	G			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr5:76332530T>G	ENST00000312916.7	+	4	1048	c.666T>G	c.(664-666)ggT>ggG	p.G222G		NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	222					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|RNA processing (GO:0006396)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	nucleic acid binding (GO:0003676)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		ACAGCACTGGTTTCTATTATG	0.423																																						ENST00000312916.7		NA																	0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20						c.(664-666)ggT>ggG		angiogenic factor with G patch and FHA domains 1							48.0	49.0	49.0					5																	76332530		2203	4300	6503	SO:0001819	synonymous_variant	55109				angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding	g.chr5:76332530T>G	AK001145	CCDS4035.1	5q13.3	2013-10-11			ENSG00000164252	ENSG00000164252		"""G patch domain containing"""	24684	protein-coding gene	gene with protein product		608464				18564129, 17103452	Standard	NM_018046		Approved	VG5Q, HSU84971, FLJ10283, GPATC7, GPATCH7	uc003ket.3	Q8N302	OTTHUMG00000102132	ENST00000312916.7:c.666T>G	5.37:g.76332530T>G		True	False		Somatic	0					p.G222G	NM_018046.4	NP_060516.2	WXS	Illumina HiSeq	Phase_I	Q8N302	AGGF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)	4	1048	+		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)	222					O00581|Q53YS3|Q9BU84|Q9NW66	Silent	SNP	ENST00000312916.7	37	c.666T>G	CCDS4035.1																																																																																				0.423	AGGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219971.2	0	NM_018046		5:76332530
HERPUD1	9709	broad.mit.edu	37	16	56973198	56973198	+	Missense_Mutation	SNP	G	G	A	rs373182203		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr16:56973198G>A	ENST00000439977.2	+	5	678	c.481G>A	c.(481-483)Ggt>Agt	p.G161S	RP11-325K4.3_ENST00000565861.1_RNA|HERPUD1_ENST00000300302.5_Missense_Mutation_p.G160S|RP11-325K4.2_ENST00000570210.1_RNA|HERPUD1_ENST00000379792.2_Missense_Mutation_p.G136S|HERPUD1_ENST00000344114.4_Intron|HERPUD1_ENST00000570273.1_3'UTR	NM_001010989.1|NM_014685.2	NP_001010989.1|NP_055500.1	Q15011	HERP1_HUMAN	homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1	161					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular calcium ion homeostasis (GO:0006874)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of protein binding (GO:0032092)|regulation of protein ubiquitination (GO:0031396)|response to unfolded protein (GO:0006986)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						TGGTTTCTCCGGTTACACACC	0.493			T	ERG	prostate								G|||	1	0.000199681	0.0	0.0	5008	,	,		19903	0.001		0.0	False		,,,				2504	0.0					ENST00000439977.2		NA		Dom	yes		16	16q12.2-q13	9709	T	"""homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1"""			E	ERG		prostate		0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						c.(481-483)Ggt>Agt		homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1		G	SER/GLY,SER/GLY,SER/GLY	0,4396		0,0,2198	170.0	181.0	177.0		478,406,481	5.0	1.0	16		177	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	HERPUD1	NM_001010989.1,NM_001010990.1,NM_014685.2	56,56,56	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign	160/391,136/367,161/392	56973198	1,12995	2198	4300	6498	SO:0001583	missense	9709					endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr16:56973198G>A	AB034989	CCDS10771.1, CCDS45492.1	16q13	2008-05-14			ENSG00000051108	ENSG00000051108			13744	protein-coding gene	gene with protein product		608070				10922362, 10708769	Standard	NM_001010989		Approved	KIAA0025, Mif1, HERP, SUP	uc002eke.2	Q15011	OTTHUMG00000133276	ENST00000439977.2:c.481G>A	16.37:g.56973198G>A	ENSP00000409555:p.Gly161Ser	False	False		Somatic	0				HERPUD1_ENST00000570273.1_3'UTR|HERPUD1_ENST00000379792.2_Missense_Mutation_p.G136S|HERPUD1_ENST00000300302.5_Missense_Mutation_p.G160S|HERPUD1_ENST00000344114.4_Intron	p.G161S	NM_001010989.1|NM_014685.2	NP_001010989.1|NP_055500.1	WXS	Illumina HiSeq	Phase_I	Q15011	HERP1_HUMAN			5	678	+			161					E9PGD1|O60644|Q6IAN8|Q96D92	Missense_Mutation	SNP	ENST00000439977.2	37	c.481G>A	CCDS10771.1	.	.	.	.	.	.	.	.	.	.	G	15.12	2.737940	0.49045	0.0	1.16E-4	ENSG00000051108	ENST00000439977;ENST00000379792;ENST00000300302	T	0.28666	1.6	5.97	5.02	0.67125	.	0.312317	0.37577	N	0.002021	T	0.35008	0.0917	L	0.44542	1.39	0.20074	N	0.999937	D;P;D;P	0.69078	0.997;0.745;0.997;0.751	P;B;P;B	0.54100	0.712;0.067;0.742;0.153	T	0.20773	-1.0265	10	0.08381	T	0.77	-6.0487	14.0339	0.64634	0.0719:0.0:0.9281:0.0	.	161;136;160;161	A4UAE9;E9PGD1;Q15011-2;Q15011	.;.;.;HERP1_HUMAN	S	160;136;161	ENSP00000369118:G136S	ENSP00000300302:G161S	G	+	1	0	HERPUD1	55530699	0.674000	0.27549	0.967000	0.41034	0.965000	0.64279	2.328000	0.43867	1.527000	0.49086	0.585000	0.79938	GGT		0.493	HERPUD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257056.5	0			16:56973198
PID1	55022	broad.mit.edu	37	2	229890686	229890686	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr2:229890686G>A	ENST00000354069.6	-	3	445	c.415C>T	c.(415-417)Cgg>Tgg	p.R139W	PID1_ENST00000409462.1_Missense_Mutation_p.R57W|PID1_ENST00000392055.3_Missense_Mutation_p.R106W|PID1_ENST00000482518.2_Intron|PID1_ENST00000392054.3_Missense_Mutation_p.R137W			Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	139	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				cellular response to cytokine stimulus (GO:0071345)|cellular response to fatty acid (GO:0071398)|cellular response to interleukin-6 (GO:0071354)|cellular response to leptin stimulus (GO:0044320)|cellular response to tumor necrosis factor (GO:0071356)|energy reserve metabolic process (GO:0006112)|mitochondrion morphogenesis (GO:0070584)|negative regulation of ATP biosynthetic process (GO:2001170)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of glucose import in response to insulin stimulus (GO:2001274)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of mitochondrial DNA replication (GO:0090298)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of fat cell proliferation (GO:0070346)|positive regulation of gene expression (GO:0010628)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of mitochondrial fusion (GO:0010635)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of reactive oxygen species metabolic process (GO:2000377)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		TGGAATGGCCGGATTTCCAGG	0.567																																						ENST00000392054.3		NA																	0				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26						c.(409-411)Cgg>Tgg		phosphotyrosine interaction domain containing 1							94.0	91.0	92.0					2																	229890686		2203	4300	6503	SO:0001583	missense	55022					cytoplasm		g.chr2:229890686G>A	AK096636	CCDS2471.1, CCDS42830.1	2q36.3	2007-02-02			ENSG00000153823	ENSG00000153823			26084	protein-coding gene	gene with protein product		612930				17124247, 16815647, 15221005	Standard	NM_001100818		Approved	NYGGF4, FLJ20701	uc002vps.4	Q7Z2X4	OTTHUMG00000133191	ENST00000354069.6:c.415C>T	2.37:g.229890686G>A	ENSP00000283937:p.Arg139Trp	False	False		Somatic	0				PID1_ENST00000354069.6_Missense_Mutation_p.R139W|PID1_ENST00000482518.2_Intron|PID1_ENST00000392055.3_Missense_Mutation_p.R106W|PID1_ENST00000409462.1_Missense_Mutation_p.R57W	p.R137W	NM_017933.4	NP_060403.3	WXS	Illumina HiSeq	Phase_I	Q7Z2X4	PCLI1_HUMAN		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)	4	748	-		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)	139			PID.		B3KU82|Q68CJ2|Q6ZUS3|Q8IXL0|Q9NWP6	Missense_Mutation	SNP	ENST00000354069.6	37	c.409C>T		.	.	.	.	.	.	.	.	.	.	G	20.6	4.010246	0.75046	.	.	ENSG00000153823	ENST00000392054;ENST00000409462;ENST00000392055;ENST00000542363;ENST00000354069	.	.	.	5.55	5.55	0.83447	Pleckstrin homology-type (1);	0.124895	0.56097	D	0.000030	T	0.68622	0.3021	L	0.36672	1.1	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.968;0.968;0.999;0.998	T	0.64508	-0.6391	8	.	.	.	-10.0864	18.8642	0.92285	0.0:0.0:1.0:0.0	.	57;106;137;139	Q7Z2X4-3;Q7Z2X4-4;Q7Z2X4-2;Q7Z2X4	.;.;.;PCLI1_HUMAN	W	137;57;106;139;139	.	.	R	-	1	2	PID1	229598930	1.000000	0.71417	0.994000	0.49952	0.952000	0.60782	7.240000	0.78192	2.768000	0.95171	0.655000	0.94253	CGG		0.567	PID1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000331810.2	0	NM_017933		2:229890686
LOC101243545	101243545	broad.mit.edu	37	3	161147009	161147009	+	lincRNA	SNP	A	A	G	rs572435760	byFrequency	TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr3:161147009A>G	ENST00000473595.1	+	0	1231				RP11-3P17.5_ENST00000602890.1_lincRNA	NR_102265.1																						CCGAATCAGGATGTTGACCTT	0.438													N|||	6	0.00119808	0.0038	0.0	5008	,	,		16178	0.0		0.0	False		,,,				2504	0.001					ENST00000473595.1		NA																	0					NA															100.0	110.0	106.0					3																	161147009		1506	2683	4189			0							g.chr3:161147009A>G																													3.37:g.161147009A>G		False	False		Somatic	0				RP11-3P17.5_ENST00000602890.1_lincRNA		NR_102265.1		WXS	Illumina HiSeq	Phase_I					0	1231	+			NA						RNA	SNP	ENST00000473595.1	37																																																																																						0.438	RP11-3P17.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000353185.1	0			3:161147009
ZNF733P	643955	broad.mit.edu	37	7	62752318	62752318	+	RNA	SNP	T	T	C	rs368763207		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr7:62752318T>C	ENST00000331425.6	-	0	1117					NR_003952.1				zinc finger protein 733, pseudogene																		ACATTCTTCATATGTGTAGGG	0.433																																						ENST00000331425.6		NA																	0					NA																																														0							g.chr7:62752318T>C			7q11.21	2012-04-20	2012-04-20	2012-04-20	ENSG00000185037	ENSG00000185037			32473	pseudogene	pseudogene			"""zinc finger protein 733"""	ZNF733			Standard	NR_003952		Approved		uc011kdj.2		OTTHUMG00000156270		7.37:g.62752318T>C		False	False		Somatic	0						NR_003952.1		WXS	Illumina HiSeq	Phase_I					0	1117	-			NA						RNA	SNP	ENST00000331425.6	37																																																																																						0.433	ZNF733P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000343679.1	0			7:62752318
ZNF496	84838	broad.mit.edu	37	1	247473673	247473673	+	Missense_Mutation	SNP	T	T	C			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr1:247473673T>C	ENST00000294753.4	-	6	1201	c.737A>G	c.(736-738)tAt>tGt	p.Y246C	ZNF496_ENST00000366498.2_Missense_Mutation_p.Y282C|ZNF496_ENST00000462139.1_5'UTR	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	246	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			GAACTCTCCATAGAAGCCAGT	0.507																																						ENST00000294753.4		NA																	0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36						c.(736-738)tAt>tGt		zinc finger protein 496							77.0	67.0	70.0					1																	247473673		2203	4300	6503	SO:0001583	missense	84838				positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:247473673T>C	BC007263	CCDS1631.1	1q44	2013-01-09			ENSG00000162714	ENSG00000162714		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23713	protein-coding gene	gene with protein product		613911				12477932	Standard	NM_032752		Approved	ZKSCAN17, MGC15548, ZSCAN49	uc001ico.3	Q96IT1	OTTHUMG00000041164	ENST00000294753.4:c.737A>G	1.37:g.247473673T>C	ENSP00000294753:p.Tyr246Cys	False	False		Somatic	0				ZNF496_ENST00000366498.2_Missense_Mutation_p.Y282C|ZNF496_ENST00000462139.1_5'UTR	p.Y246C	NM_032752.1	NP_116141.1	WXS	Illumina HiSeq	Phase_I	Q96IT1	ZN496_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00703)		6	1201	-	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		246			KRAB.		Q8TBS2	Missense_Mutation	SNP	ENST00000294753.4	37	c.737A>G	CCDS1631.1	.	.	.	.	.	.	.	.	.	.	T	16.37	3.103212	0.56183	.	.	ENSG00000162714	ENST00000294753;ENST00000366498	T;T	0.07021	3.23;3.23	3.65	3.65	0.41850	Krueppel-associated box (4);	0.000000	0.38897	N	0.001537	T	0.27559	0.0677	M	0.84156	2.68	0.35851	D	0.826793	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.995	T	0.30090	-0.9990	10	0.56958	D	0.05	-23.0442	8.8913	0.35434	0.0:0.0:0.0:1.0	.	282;246	Q96IT1-2;Q96IT1	.;ZN496_HUMAN	C	246;282	ENSP00000294753:Y246C;ENSP00000355454:Y282C	ENSP00000294753:Y246C	Y	-	2	0	ZNF496	245540296	0.987000	0.35691	0.963000	0.40424	0.966000	0.64601	3.047000	0.49854	1.672000	0.50884	0.533000	0.62120	TAT		0.507	ZNF496-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098655.2	0	NM_032752		1:247473673
DPY19L2P2	349152	broad.mit.edu	37	7	102912190	102912190	+	RNA	SNP	T	T	G			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr7:102912190T>G	ENST00000312132.4	-	0	2389							Q6ZN68	D19P2_HUMAN	DPY19L2 pseudogene 2							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										TCTGGATAAATATGGAAGCGT	0.343																																						ENST00000312132.4		NA																	0					NA																																														0							g.chr7:102912190T>G	AL834175		7q22.1	2013-09-12	2013-09-12		ENSG00000170629	ENSG00000170629			21764	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 2 (C. elegans)"""				Standard	NR_027768		Approved	DKFZp434E092, FLJ36166	uc003vbh.4	Q6ZN68	OTTHUMG00000157200		7.37:g.102912190T>G		True	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	2389	-			NA					Q8N9V4|Q8ND62	RNA	SNP	ENST00000312132.4	37																																																																																						0.343	DPY19L2P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347877.1	0	NM_182634		7:102912190
SLC27A3	11000	broad.mit.edu	37	1	153747855	153747855	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr1:153747855G>A	ENST00000368661.3	+	1	88	c.23G>A	c.(22-24)cGc>cAc	p.R8H	SLC27A3_ENST00000271857.2_Missense_Mutation_p.R89H|SLC27A3_ENST00000484014.1_3'UTR	NM_024330.1	NP_077306.1	Q5K4L6	S27A3_HUMAN	solute carrier family 27 (fatty acid transporter), member 3	8					fatty acid metabolic process (GO:0006631)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	fatty-acyl-CoA synthase activity (GO:0004321)|ligase activity (GO:0016874)|nucleotide binding (GO:0000166)			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CAGCGCACGCGCGCTCCCTGG	0.677																																						ENST00000271857.2		NA																	0				NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						c.(265-267)cGc>cAc		solute carrier family 27 (fatty acid transporter), member 3							52.0	58.0	56.0					1																	153747855		2203	4300	6503	SO:0001583	missense	11000				fatty acid metabolic process	integral to membrane|mitochondrial membrane	ligase activity|nucleotide binding	g.chr1:153747855G>A	BC009916	CCDS1053.1	1q21.1	2013-05-22			ENSG00000143554	ENSG00000143554		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10997	protein-coding gene	gene with protein product		604193				9671728	Standard	NM_024330		Approved	FATP3, MGC4365, ACSVL3	uc001fcz.3	Q5K4L6	OTTHUMG00000037155	ENST00000368661.3:c.23G>A	1.37:g.153747855G>A	ENSP00000357650:p.Arg8His	True	False		Somatic	0				SLC27A3_ENST00000368661.3_Missense_Mutation_p.R8H|SLC27A3_ENST00000484014.1_3'UTR	p.R89H			WXS	Illumina HiSeq	Phase_I	Q5K4L6	S27A3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		1	1026	+	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		8					Q5VUQ7|Q5VUQ8|Q5VUR3|Q6ZV16|Q8N2X7|Q8TEJ0|Q96SW5|Q9BTJ5|Q9BTY5	Missense_Mutation	SNP	ENST00000368661.3	37	c.266G>A	CCDS1053.1	.	.	.	.	.	.	.	.	.	.	G	18.07	3.541870	0.65198	.	.	ENSG00000143554	ENST00000271857;ENST00000368661	T;T	0.62105	0.05;0.2	4.32	4.32	0.51571	.	.	.	.	.	T	0.42810	0.1219	N	0.08118	0	0.28144	N	0.929672	D	0.76494	0.999	P	0.56751	0.805	T	0.46965	-0.9153	9	0.87932	D	0	-3.5406	12.3256	0.55009	0.0:0.0:1.0:0.0	.	8	Q5K4L6	S27A3_HUMAN	H	89;8	ENSP00000271857:R89H;ENSP00000357650:R8H	ENSP00000271857:R89H	R	+	2	0	SLC27A3	152014479	1.000000	0.71417	1.000000	0.80357	0.493000	0.33554	1.460000	0.35244	1.973000	0.57446	0.462000	0.41574	CGC		0.677	SLC27A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0	NM_024330		1:153747855
NOVA1	4857	broad.mit.edu	37	14	27064659	27064659	+	Silent	SNP	A	A	T	rs115769795	byFrequency	TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr14:27064659A>T	ENST00000344429.5	-	2	240	c.237T>A	c.(235-237)acT>acA	p.T79T	NOVA1_ENST00000267422.7_5'UTR|NOVA1_ENST00000547619.1_Silent_p.T79T|NOVA1_ENST00000551754.1_5'UTR|NOVA1_ENST00000574031.1_Silent_p.T79T|NOVA1_ENST00000465357.2_Silent_p.T79T|NOVA1_ENST00000539517.2_Silent_p.T79T|RP11-483C6.1_ENST00000572358.1_RNA|NOVA1-AS1_ENST00000547786.1_RNA	NM_006491.2	NP_006482.1	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	79	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.				locomotory behavior (GO:0007626)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA metabolic process (GO:0051252)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		TGGTGGCTCCAGTTTCTTTTT	0.423																																						ENST00000539517.2		NA																	0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40						c.(235-237)acT>acA		neuro-oncological ventral antigen 1							165.0	155.0	158.0					14																	27064659		2203	4300	6503	SO:0001819	synonymous_variant	4857				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding	g.chr14:27064659A>T	U04840	CCDS9635.1, CCDS32060.1, CCDS32061.1	14q12	2006-06-09			ENSG00000139910	ENSG00000139910			7886	protein-coding gene	gene with protein product		602157				8558240	Standard	NM_006489		Approved		uc001wpy.3	P51513	OTTHUMG00000029385	ENST00000344429.5:c.237T>A	14.37:g.27064659A>T		False	False		Somatic	0				NOVA1_ENST00000465357.2_Silent_p.T79T|NOVA1_ENST00000574031.1_Silent_p.T79T|NOVA1_ENST00000551754.1_5'UTR|NOVA1_ENST00000547619.1_Silent_p.T79T|NOVA1_ENST00000344429.5_Silent_p.T79T|NOVA1_ENST00000267422.7_5'UTR	p.T79T	NM_002515.2	NP_002506.2	WXS	Illumina HiSeq	Phase_I	P51513	NOVA1_HUMAN		GBM - Glioblastoma multiforme(265;0.0135)	2	554	-			79			KH 1.		A8K0S4|A8K4Q7|D3DS81|D3DS82|Q6B004	Silent	SNP	ENST00000344429.5	37	c.237T>A	CCDS9635.1																																																																																				0.423	NOVA1-001	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276557.1	0	NM_006491		14:27064659
ANKZF1	55139	broad.mit.edu	37	2	220096743	220096743	+	Missense_Mutation	SNP	T	T	C			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr2:220096743T>C	ENST00000323348.5	+	3	416	c.242T>C	c.(241-243)tTc>tCc	p.F81S	ATG9A_ENST00000396761.2_5'Flank|ATG9A_ENST00000409422.1_5'Flank|ANKZF1_ENST00000409849.1_Intron|ANKZF1_ENST00000410034.3_Missense_Mutation_p.F81S|ATG9A_ENST00000409618.1_5'Flank|ATG9A_ENST00000361242.4_5'Flank|ATG9A_ENST00000488833.1_5'Flank	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	81						membrane (GO:0016020)	metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GACCAGACCTTCCAGAACCAC	0.438																																						ENST00000323348.5		NA																	0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23						c.(241-243)tTc>tCc		ankyrin repeat and zinc finger domain containing 1							88.0	87.0	87.0					2																	220096743		1888	4109	5997	SO:0001583	missense	55139					intracellular	zinc ion binding	g.chr2:220096743T>C	AF364318	CCDS42821.1, CCDS63129.1	2q35	2013-01-10			ENSG00000163516	ENSG00000163516		"""Zinc fingers, C2H2-type"", ""Ankyrin repeat domain containing"""	25527	protein-coding gene	gene with protein product						12477932	Standard	NM_018089		Approved	FLJ10415, ZNF744	uc002vkg.3	Q9H8Y5	OTTHUMG00000154533	ENST00000323348.5:c.242T>C	2.37:g.220096743T>C	ENSP00000321617:p.Phe81Ser	False	False		Somatic	0				ANKZF1_ENST00000410034.3_Missense_Mutation_p.F81S|ANKZF1_ENST00000409849.1_Intron	p.F81S	NM_018089.2	NP_060559.2	WXS	Illumina HiSeq	Phase_I	Q9H8Y5	ANKZ1_HUMAN		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	3	416	+		Renal(207;0.0474)	81					Q9NVZ4	Missense_Mutation	SNP	ENST00000323348.5	37	c.242T>C	CCDS42821.1	.	.	.	.	.	.	.	.	.	.	T	15.46	2.839907	0.51057	.	.	ENSG00000163516	ENST00000323348;ENST00000453432;ENST00000410034;ENST00000447157;ENST00000436226	T;T;T	0.52754	0.65;0.65;0.65	5.12	5.12	0.69794	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.050567	0.85682	D	0.000000	T	0.66992	0.2846	M	0.92604	3.325	0.53688	D	0.999979	D	0.54601	0.967	P	0.52909	0.713	T	0.75459	-0.3310	10	0.66056	D	0.02	-8.426	11.2524	0.49034	0.0:0.0:0.0:1.0	.	81	Q9H8Y5	ANKZ1_HUMAN	S	81;16;81;81;81	ENSP00000321617:F81S;ENSP00000386337:F81S;ENSP00000399667:F81S	ENSP00000321617:F81S	F	+	2	0	ANKZF1	219804987	1.000000	0.71417	1.000000	0.80357	0.668000	0.39293	4.365000	0.59486	2.150000	0.67090	0.383000	0.25322	TTC		0.438	ANKZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335790.1	0	NM_018089		2:220096743
TMPRSS15	5651	broad.mit.edu	37	21	19653400	19653400	+	Silent	SNP	G	G	A	rs148756781		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr21:19653400G>A	ENST00000284885.3	-	22	2658	c.2625C>T	c.(2623-2625)aaC>aaT	p.N875N		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	875	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TGGCAATGTCGTTGTCCTTTC	0.348																																						ENST00000284885.3		NA																	0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						c.(2623-2625)aaC>aaT		transmembrane protease, serine 15		G		2,4404	4.2+/-10.8	0,2,2201	201.0	190.0	194.0		2625	0.3	0.2	21	dbSNP_134	194	0,8600		0,0,4300	no	coding-synonymous	TMPRSS15	NM_002772.2		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		875/1020	19653400	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	5651				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:19653400G>A		CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"""Serine peptidases / Transmembrane"""	9490	protein-coding gene	gene with protein product	"""proenterokinase"", ""enteropeptidase"""	606635	"""protease, serine, 7 (enterokinase)"""	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.2625C>T	21.37:g.19653400G>A		False	False		Somatic	0					p.N875N	NM_002772.2	NP_002763	WXS	Illumina HiSeq	Phase_I	P98073	ENTK_HUMAN			22	2658	-			875			Peptidase S1.		Q2NKL7	Silent	SNP	ENST00000284885.3	37	c.2625C>T	CCDS13571.1																																																																																				0.348	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	0	NM_002772		21:19653400
RBP3	5949	broad.mit.edu	37	10	48389530	48389530	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr10:48389530C>T	ENST00000224600.4	-	1	1461	c.1348G>A	c.(1348-1350)Gcc>Acc	p.A450T	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	450	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	AGGACGGAGGCGTCAGCAAAA	0.617																																						ENST00000224600.4		NA																	0				central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(1348-1350)Gcc>Acc		retinol binding protein 3, interstitial	Vitamin A(DB00162)						66.0	57.0	60.0					10																	48389530		2203	4300	6503	SO:0001583	missense	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48389530C>T	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"""retinol-binding protein 3, interstitial"""				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.1348G>A	10.37:g.48389530C>T	ENSP00000224600:p.Ala450Thr	False	False		Somatic	0					p.A450T	NM_002900.2	NP_002891.1	WXS	Illumina HiSeq	Phase_I	P10745	RET3_HUMAN			1	1461	-			450			4 X approximate tandem repeats.		Q0QD34|Q5VSR0|Q8IXN0	Missense_Mutation	SNP	ENST00000224600.4	37	c.1348G>A	CCDS7218.1	.	.	.	.	.	.	.	.	.	.	C	13.12	2.143091	0.37825	.	.	ENSG00000107618	ENST00000224600	T	0.64260	-0.09	5.29	4.29	0.51040	Interphotoreceptor retinol-binding (2);	0.373325	0.28296	N	0.015863	T	0.67392	0.2888	N	0.21545	0.675	0.33964	D	0.645929	D	0.89917	1.0	D	0.81914	0.995	T	0.76498	-0.2937	10	0.59425	D	0.04	-20.5537	15.7345	0.77831	0.1457:0.8543:0.0:0.0	.	450	P10745	RET3_HUMAN	T	450	ENSP00000224600:A450T	ENSP00000224600:A450T	A	-	1	0	RBP3	48009536	0.604000	0.26932	0.052000	0.19188	0.192000	0.23643	1.115000	0.31209	2.483000	0.83821	0.561000	0.74099	GCC		0.617	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	0	NM_002900		10:48389530
PHF12	57649	broad.mit.edu	37	17	27239855	27239855	+	Silent	SNP	C	C	T			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr17:27239855C>T	ENST00000332830.4	-	9	2544	c.1734G>A	c.(1732-1734)cgG>cgA	p.R578R	PHF12_ENST00000577226.1_Silent_p.R578R|PHF12_ENST00000268756.3_Silent_p.R578R|PHF12_ENST00000582655.1_5'UTR	NM_001033561.1	NP_001028733.1			PHD finger protein 12											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			GCCAGCCTTGCCGGTGTGAGA	0.637																																						ENST00000577226.1		NA																	0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						c.(1732-1734)cgG>cgA		PHD finger protein 12							43.0	48.0	46.0					17																	27239855		2203	4300	6503	SO:0001819	synonymous_variant	57649				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding	g.chr17:27239855C>T	AB040956	CCDS11247.1, CCDS32598.1	17q11.2	2013-01-28			ENSG00000109118	ENSG00000109118		"""Zinc fingers, PHD-type"""	20816	protein-coding gene	gene with protein product						11390640	Standard	XM_005258015		Approved	PF1, KIAA1523	uc002hdg.1	Q96QT6	OTTHUMG00000132676	ENST00000332830.4:c.1734G>A	17.37:g.27239855C>T		False	False		Somatic	0				PHF12_ENST00000582655.1_5'UTR|PHF12_ENST00000268756.3_Silent_p.R578R|PHF12_ENST00000332830.4_Silent_p.R578R	p.R578R			WXS	Illumina HiSeq	Phase_I	Q96QT6	PHF12_HUMAN	Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)		9	2080	-	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		578			Interaction with SIN3A.			Silent	SNP	ENST00000332830.4	37	c.1734G>A	CCDS32598.1																																																																																				0.637	PHF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255941.1	0	NM_020889		17:27239855
GREB1	9687	broad.mit.edu	37	2	11772081	11772081	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr2:11772081G>A	ENST00000381486.2	+	27	4958	c.4658G>A	c.(4657-4659)cGt>cAt	p.R1553H	GREB1_ENST00000396123.1_Missense_Mutation_p.R551H|GREB1_ENST00000234142.5_Missense_Mutation_p.R1553H	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1553						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		ACCACCGGCCGTCACGAACAT	0.443																																					Ovarian(39;850 945 2785 23371 33093)	ENST00000381486.2		NA																	0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30						c.(4657-4659)cGt>cAt		growth regulation by estrogen in breast cancer 1							98.0	95.0	96.0					2																	11772081		1927	4125	6052	SO:0001583	missense	9687					integral to membrane		g.chr2:11772081G>A		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.4658G>A	2.37:g.11772081G>A	ENSP00000370896:p.Arg1553His	False	False		Somatic	0				GREB1_ENST00000396123.1_Missense_Mutation_p.R551H|GREB1_ENST00000234142.5_Missense_Mutation_p.R1553H	p.R1553H	NM_014668.3	NP_055483.2	WXS	Illumina HiSeq	Phase_I	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	27	4958	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		1553					A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	c.4658G>A	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.554458	0.86231	.	.	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000396123	T;T;T	0.55930	0.49;0.49;0.49	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.74230	0.3689	M	0.75615	2.305	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76591	-0.2903	10	0.72032	D	0.01	-21.4125	19.3358	0.94319	0.0:0.0:1.0:0.0	.	1553	Q4ZG55	GREB1_HUMAN	H	1553;1553;551	ENSP00000370896:R1553H;ENSP00000234142:R1553H;ENSP00000379429:R551H	ENSP00000234142:R1553H	R	+	2	0	GREB1	11689532	1.000000	0.71417	0.963000	0.40424	0.471000	0.32888	9.343000	0.97047	2.573000	0.86826	0.557000	0.71058	CGT		0.443	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	0	NM_014668		2:11772081
PLEKHA7	144100	broad.mit.edu	37	11	16872763	16872763	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr11:16872763C>T	ENST00000355661.3	-	8	681	c.671G>A	c.(670-672)cGc>cAc	p.R224H	PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.R224H|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.R224H			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	224	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				epithelial cell-cell adhesion (GO:0090136)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|zonula adherens (GO:0005915)	delta-catenin binding (GO:0070097)	p.R224H(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						GCGGCTTATGCGATCCTCAGG	0.483																																						ENST00000355661.3		NA																	1	Substitution - Missense(1)	p.R224H(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						c.(670-672)cGc>cAc		pleckstrin homology domain containing, family A member 7							105.0	98.0	100.0					11																	16872763		2200	4294	6494	SO:0001583	missense	144100				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding	g.chr11:16872763C>T	BC033239	CCDS31434.1	11p15	2013-01-10			ENSG00000166689	ENSG00000166689		"""Pleckstrin homology (PH) domain containing"""	27049	protein-coding gene	gene with protein product		612686				12477932	Standard	NM_175058		Approved	DKFZp686M22243	uc001mmo.3	Q6IQ23	OTTHUMG00000165954	ENST00000355661.3:c.671G>A	11.37:g.16872763C>T	ENSP00000347883:p.Arg224His	False	False		Somatic	0				PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.R224H|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.R224H	p.R224H			WXS	Illumina HiSeq	Phase_I	Q6IQ23	PKHA7_HUMAN			8	681	-			224			PH.		B4DK33|B4DWC3|Q86VZ7	Missense_Mutation	SNP	ENST00000355661.3	37	c.671G>A	CCDS31434.1	.	.	.	.	.	.	.	.	.	.	C	8.567	0.879093	0.17395	.	.	ENSG00000166689	ENST00000531066;ENST00000355661;ENST00000448080;ENST00000528376	T;T;T;T	0.75821	-0.97;-0.97;-0.97;2.73	5.51	5.51	0.81932	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.095653	0.64402	D	0.000001	T	0.57021	0.2025	N	0.25094	0.71	0.43047	D	0.99464	B;B	0.23442	0.006;0.085	B;B	0.22880	0.006;0.042	T	0.53725	-0.8398	10	0.02654	T	1	-20.3034	13.6784	0.62469	0.0:0.9262:0.0:0.0738	.	224;224	E9PKC0;Q6IQ23	.;PKHA7_HUMAN	H	224;224;224;118	ENSP00000435389:R224H;ENSP00000347883:R224H;ENSP00000416895:R224H;ENSP00000435806:R118H	ENSP00000347883:R224H	R	-	2	0	PLEKHA7	16829339	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.732000	0.55021	2.605000	0.88082	0.655000	0.94253	CGC		0.483	PLEKHA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000387242.2	0	NM_175058		11:16872763
PIK3C2A	5286	broad.mit.edu	37	11	17190613	17190613	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr11:17190613G>C	ENST00000265970.7	-	1	675	c.676C>G	c.(676-678)Cta>Gta	p.L226V	PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	226					clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol binding (GO:0035091)			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						TTGTCAAATAGTTTTGCCATG	0.378																																						ENST00000265970.7		NA																	0				central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(676-678)Cta>Gta		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	Phosphatidylserine(DB00144)						61.0	58.0	59.0					11																	17190613		2200	4293	6493	SO:0001583	missense	5286				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr11:17190613G>C	Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"""phosphoinositide-3-kinase, class 2, alpha polypeptide"""			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.676C>G	11.37:g.17190613G>C	ENSP00000265970:p.Leu226Val	True	False		Somatic	0				PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Intron	p.L226V	NM_002645.2	NP_002636.2	WXS	Illumina HiSeq	Phase_I	O00443	P3C2A_HUMAN			1	675	-			226					B0LPH2|B4E2G4|Q14CQ9	Missense_Mutation	SNP	ENST00000265970.7	37	c.676C>G	CCDS7824.1	.	.	.	.	.	.	.	.	.	.	G	10.19	1.283209	0.23392	.	.	ENSG00000011405	ENST00000265970;ENST00000544896	T	0.68903	-0.36	5.53	4.62	0.57501	.	0.150075	0.46145	N	0.000306	T	0.45458	0.1343	N	0.24115	0.695	0.80722	D	1	P;B	0.36683	0.565;0.058	B;B	0.25884	0.064;0.017	T	0.41395	-0.9511	10	0.30078	T	0.28	-7.8251	10.3363	0.43852	0.0778:0.1736:0.7486:0.0	.	226;226	F5H5W9;O00443	.;P3C2A_HUMAN	V	226	ENSP00000265970:L226V	ENSP00000265970:L226V	L	-	1	2	PIK3C2A	17147189	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.116000	0.50399	1.335000	0.45486	-0.218000	0.12543	CTA		0.378	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1	0	NM_002645		11:17190613
CARD9	64170	broad.mit.edu	37	9	139265516	139265516	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr9:139265516G>A	ENST00000371732.5	-	4	569	c.404C>T	c.(403-405)gCg>gTg	p.A135V	CARD9_ENST00000371734.3_Missense_Mutation_p.A135V|CARD9_ENST00000315908.7_Missense_Mutation_p.A135V	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN	caspase recruitment domain family, member 9	135					defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of apoptotic process (GO:0042981)|regulation of interleukin-2 biosynthetic process (GO:0045076)|regulation of interleukin-6 biosynthetic process (GO:0045408)|regulation of tumor necrosis factor biosynthetic process (GO:0042534)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to fungus (GO:0009620)|response to muramyl dipeptide (GO:0032495)|response to peptidoglycan (GO:0032494)	cytoplasm (GO:0005737)	CARD domain binding (GO:0050700)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		GCTCAGCAGCGCGGTCAGGTC	0.612																																						ENST00000371732.5		NA																	0				endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15						c.(403-405)gCg>gTg		caspase recruitment domain family, member 9							44.0	39.0	41.0					9																	139265516		2199	4297	6496	SO:0001583	missense	64170				positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis	cytoplasm	CARD domain binding|protein homodimerization activity	g.chr9:139265516G>A	AF311287	CCDS6997.1, CCDS48057.1	9q34	2014-09-17			ENSG00000187796	ENSG00000187796			16391	protein-coding gene	gene with protein product		607212				11053425	Standard	NM_052813		Approved		uc004chg.3	Q9H257	OTTHUMG00000020925	ENST00000371732.5:c.404C>T	9.37:g.139265516G>A	ENSP00000360797:p.Ala135Val	False	False		Somatic	0				CARD9_ENST00000315908.7_Missense_Mutation_p.A135V|CARD9_ENST00000371734.3_Missense_Mutation_p.A135V	p.A135V	NM_052813.4	NP_434700.2	WXS	Illumina HiSeq	Phase_I	Q9H257	CARD9_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)	4	569	-		Myeloproliferative disorder(178;0.0511)	135					Q5SXM5|Q5SXM6|Q9H854	Missense_Mutation	SNP	ENST00000371732.5	37	c.404C>T	CCDS6997.1	.	.	.	.	.	.	.	.	.	.	G	5.443	0.266829	0.10294	.	.	ENSG00000187796	ENST00000371734;ENST00000371732;ENST00000315908	T;T;T	0.35421	1.31;1.31;1.31	4.72	1.27	0.21489	.	0.911173	0.09365	N	0.812180	T	0.19446	0.0467	N	0.17838	0.53	0.09310	N	1	B;B;B;B	0.20261	0.043;0.003;0.01;0.01	B;B;B;B	0.14578	0.011;0.008;0.002;0.002	T	0.24657	-1.0154	10	0.30078	T	0.28	-20.6527	2.4605	0.04540	0.297:0.0:0.2608:0.4422	.	31;135;135;135	B4DIK5;Q9H257-2;Q5SXM5;Q9H257	.;.;.;CARD9_HUMAN	V	135	ENSP00000360799:A135V;ENSP00000360797:A135V;ENSP00000323719:A135V	ENSP00000323719:A135V	A	-	2	0	CARD9	138385337	0.000000	0.05858	0.178000	0.23040	0.090000	0.18270	0.365000	0.20348	0.393000	0.25203	-0.253000	0.11424	GCG		0.612	CARD9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055053.1	0	NM_052813		9:139265516
ALDH16A1	126133	broad.mit.edu	37	19	49964157	49964157	+	Splice_Site	SNP	G	G	A			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr19:49964157G>A	ENST00000293350.4	+	5	740		c.e5+1		ALDH16A1_ENST00000540132.1_Splice_Site|CTD-3148I10.9_ENST00000599536.1_5'Flank|ALDH16A1_ENST00000455361.2_Splice_Site|ALDH16A1_ENST00000433981.2_Splice_Site	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1							extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		CTGGCTGTGGGTAAATGATGG	0.557																																						ENST00000293350.4		NA																	0				cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20						c.e5+1		aldehyde dehydrogenase 16 family, member A1							88.0	82.0	84.0					19																	49964157		2203	4300	6503	SO:0001630	splice_region_variant	126133						oxidoreductase activity|protein binding	g.chr19:49964157G>A	AY007096	CCDS12766.1, CCDS46141.1	19q13.33	2014-08-12			ENSG00000161618	ENSG00000161618		"""Aldehyde dehydrogenases"""	28114	protein-coding gene	gene with protein product		613358					Standard	NM_153329		Approved	MGC10204	uc002pnt.3	Q8IZ83	OTTHUMG00000183163	ENST00000293350.4:c.577+1G>A	19.37:g.49964157G>A		True	False		Somatic	0				ALDH16A1_ENST00000540132.1_Splice_Site|ALDH16A1_ENST00000433981.2_Splice_Site|ALDH16A1_ENST00000455361.2_Splice_Site		NM_153329.3	NP_699160.2	WXS	Illumina HiSeq	Phase_I	Q8IZ83	A16A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)	5	740	+		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)	NA					B4DLQ1|C9JBH6|Q86YF0|Q8IYL4|Q8TEI8	Splice_Site	SNP	ENST00000293350.4	37		CCDS12766.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.966777	0.74131	.	.	ENSG00000161618	ENST00000293350;ENST00000455361;ENST00000540132;ENST00000433981	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0276	0.71682	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ALDH16A1	54655969	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	3.134000	0.50538	2.704000	0.92352	0.585000	0.79938	.		0.557	ALDH16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465358.1	0	NM_153329	Intron	19:49964157
CASP10	843	broad.mit.edu	37	2	202073970	202073970	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr2:202073970C>T	ENST00000272879.5	+	9	1284	c.1100C>T	c.(1099-1101)tCg>tTg	p.S367L	CASP10_ENST00000448480.1_Missense_Mutation_p.S324L|CASP10_ENST00000360132.3_3'UTR|CASP10_ENST00000346817.5_Missense_Mutation_p.S324L|CASP10_ENST00000286186.6_Missense_Mutation_p.S367L|CASP10_ENST00000313728.7_Missense_Mutation_p.S300L|CASP10_ENST00000492363.1_3'UTR	NM_032974.4	NP_116756.2	Q92851	CASPA_HUMAN	caspase 10, apoptosis-related cysteine peptidase	367					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|innate immune response (GO:0045087)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of apoptotic process (GO:0042981)	CD95 death-inducing signaling complex (GO:0031265)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|death effector domain binding (GO:0035877)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						GTCTACTCTTCGGATGAGGCC	0.527																																						ENST00000286186.6		NA																	0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						c.(1099-1101)tCg>tTg		caspase 10, apoptosis-related cysteine peptidase							155.0	140.0	145.0					2																	202073970		2203	4300	6503	SO:0001583	missense	843				apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding	g.chr2:202073970C>T	U60519	CCDS2338.1, CCDS2339.1, CCDS2340.1, CCDS56159.1, CCDS56160.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000003400	ENSG00000003400	3.4.22.63	"""Caspases"""	1500	protein-coding gene	gene with protein product		601762	"""caspase 10, apoptosis-related cysteine protease"""			8755496	Standard	NM_032974		Approved	MCH4	uc002uxj.1	Q92851	OTTHUMG00000132818	ENST00000272879.5:c.1100C>T	2.37:g.202073970C>T	ENSP00000272879:p.Ser367Leu	False	False		Somatic	0				CASP10_ENST00000346817.5_Missense_Mutation_p.S324L|CASP10_ENST00000313728.7_Missense_Mutation_p.S300L|CASP10_ENST00000360132.3_3'UTR|CASP10_ENST00000492363.1_3'UTR|CASP10_ENST00000448480.1_Missense_Mutation_p.S324L|CASP10_ENST00000272879.5_Missense_Mutation_p.S367L	p.S367L	NM_032977.3	NP_116759.2	WXS	Illumina HiSeq	Phase_I	Q92851	CASPA_HUMAN			9	1535	+			367					Q68HC0|Q6KF62|Q6KF63|Q8IUP5|Q8WYQ8|Q99845|Q9Y2U6|Q9Y2U7	Missense_Mutation	SNP	ENST00000272879.5	37	c.1100C>T	CCDS2338.1	.	.	.	.	.	.	.	.	.	.	C	17.09	3.299455	0.60195	.	.	ENSG00000003400	ENST00000286186;ENST00000272879;ENST00000346817;ENST00000313728;ENST00000448480	T;T;T;T;T	0.20332	2.08;2.08;2.08;2.08;2.08	5.05	5.05	0.67936	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);Peptidase C14, ICE, catalytic subunit p20 (1);	0.342415	0.29087	N	0.013181	T	0.49440	0.1557	M	0.89353	3.025	0.31327	N	0.68525	D;D;D;D;D	0.89917	0.978;1.0;1.0;0.994;0.995	P;D;D;P;P	0.72982	0.759;0.947;0.979;0.772;0.768	T	0.61242	-0.7102	10	0.52906	T	0.07	.	10.695	0.45894	0.1465:0.7121:0.1414:0.0	.	300;324;367;324;367	Q92851-6;Q92851-5;Q92851;Q92851-2;Q92851-4	.;.;CASPA_HUMAN;.;.	L	367;367;324;300;324	ENSP00000286186:S367L;ENSP00000272879:S367L;ENSP00000237865:S324L;ENSP00000314599:S300L;ENSP00000396835:S324L	ENSP00000272879:S367L	S	+	2	0	CASP10	201782215	0.000000	0.05858	0.017000	0.16124	0.020000	0.10135	0.844000	0.27654	2.361000	0.80049	0.650000	0.86243	TCG		0.527	CASP10-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256273.1	0	NM_032977		2:202073970
KCNA4	3739	broad.mit.edu	37	11	30033662	30033662	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr11:30033662C>G	ENST00000328224.6	-	2	1797	c.564G>C	c.(562-564)gaG>gaC	p.E188D	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	188					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)	TCATTTGGGTCTCAAAGCGTA	0.493																																						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.(562-564)gaG>gaC		potassium voltage-gated channel, shaker-related subfamily, member 4							65.0	65.0	65.0					11																	30033662		2020	4160	6180	SO:0001583	missense	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30033662C>G	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.564G>C	11.37:g.30033662C>G	ENSP00000328511:p.Glu188Asp	False	False		Somatic	0					p.E188D	NM_002233.3	NP_002224.1	WXS	Illumina HiSeq	Phase_I	P22459	KCNA4_HUMAN			2	1797	-			188						Missense_Mutation	SNP	ENST00000328224.6	37	c.564G>C	CCDS41629.1	.	.	.	.	.	.	.	.	.	.	C	15.89	2.967116	0.53507	.	.	ENSG00000182255	ENST00000328224	T	0.78246	-1.16	4.81	3.88	0.44766	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	D	0.83510	0.5270	H	0.96398	3.815	0.58432	D	0.999993	P	0.43938	0.822	B	0.41135	0.348	D	0.85507	0.1195	10	0.87932	D	0	.	9.2552	0.37579	0.0:0.7634:0.0:0.2366	.	188	P22459	KCNA4_HUMAN	D	188	ENSP00000328511:E188D	ENSP00000328511:E188D	E	-	3	2	KCNA4	29990238	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.176000	0.31957	1.001000	0.39076	0.561000	0.74099	GAG		0.493	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	0	NM_002233		11:30033662
FAM8A1	51439	broad.mit.edu	37	6	17608527	17608527	+	Missense_Mutation	SNP	T	T	C	rs200658703		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr6:17608527T>C	ENST00000259963.3	+	5	1254	c.1199T>C	c.(1198-1200)aTt>aCt	p.I400T		NM_016255.2	NP_057339.1	Q9UBU6	FA8A1_HUMAN	family with sequence similarity 8, member A1	400	RDD.					integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(3)	6	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	all cancers(50;0.176)|Epithelial(50;0.204)			GCTTATGACATTGTAGCAGGA	0.398																																						ENST00000259963.3		NA																	0				endometrium(1)|large_intestine(2)|lung(3)	6						c.(1198-1200)aTt>aCt		family with sequence similarity 8, member A1							95.0	90.0	91.0					6																	17608527		2203	4300	6503	SO:0001583	missense	51439					integral to membrane		g.chr6:17608527T>C	AF097027	CCDS4540.1	6p23	2010-11-22			ENSG00000137414	ENSG00000137414			16372	protein-coding gene	gene with protein product						11707071	Standard	NM_016255		Approved	AHCP	uc003ncc.3	Q9UBU6	OTTHUMG00000014309	ENST00000259963.3:c.1199T>C	6.37:g.17608527T>C	ENSP00000259963:p.Ile400Thr	False	False		Somatic	0					p.I400T	NM_016255.2	NP_057339.1	WXS	Illumina HiSeq	Phase_I	Q9UBU6	FA8A1_HUMAN	all cancers(50;0.176)|Epithelial(50;0.204)		5	1254	+	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	400			RDD.		B2R725	Missense_Mutation	SNP	ENST00000259963.3	37	c.1199T>C	CCDS4540.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.375621	0.82682	.	.	ENSG00000137414	ENST00000542476;ENST00000259963	.	.	.	5.63	5.63	0.86233	RDD (1);	0.101193	0.64402	D	0.000002	T	0.72061	0.3414	M	0.68952	2.095	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	T	0.76288	-0.3014	9	0.72032	D	0.01	-7.7083	15.837	0.78805	0.0:0.0:0.0:1.0	.	400	Q9UBU6	FA8A1_HUMAN	T	150;400	.	ENSP00000259963:I400T	I	+	2	0	FAM8A1	17716506	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.940000	0.70187	2.143000	0.66587	0.455000	0.32223	ATT		0.398	FAM8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039950.1	0			6:17608527
MST1R	4486	broad.mit.edu	37	3	49932714	49932714	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr3:49932714G>A	ENST00000296474.3	-	14	3184	c.3157C>T	c.(3157-3159)Cgg>Tgg	p.R1053W	MST1R_ENST00000344206.4_Missense_Mutation_p.R1004W	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1053					cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		GACTCTTTCCGCAGCAGTGGC	0.567																																						ENST00000296474.3		NA																	0				cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37						c.(3157-3159)Cgg>Tgg		macrophage stimulating 1 receptor (c-met-related tyrosine kinase)							150.0	144.0	146.0					3																	49932714		2203	4300	6503	SO:0001583	missense	4486				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding	g.chr3:49932714G>A	X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"""CD molecules"""	7381	protein-coding gene	gene with protein product		600168	"""PTK8 protein tyrosine kinase 8"""	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.3157C>T	3.37:g.49932714G>A	ENSP00000296474:p.Arg1053Trp	False	False		Somatic	0				MST1R_ENST00000344206.4_Missense_Mutation_p.R1004W	p.R1053W	NM_002447.2	NP_002438	WXS	Illumina HiSeq	Phase_I	Q04912	RON_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)	14	3184	-			1053					B5A944|B5A945|B5A946|B5A947	Missense_Mutation	SNP	ENST00000296474.3	37	c.3157C>T	CCDS2807.1	.	.	.	.	.	.	.	.	.	.	g	13.76	2.332890	0.41297	.	.	ENSG00000164078	ENST00000296474;ENST00000344206	T;T	0.10288	2.89;2.89	5.84	1.71	0.24356	.	0.615148	0.17959	N	0.156241	T	0.18173	0.0436	M	0.61703	1.905	0.09310	N	1	D	0.71674	0.998	P	0.53185	0.72	T	0.04065	-1.0980	10	0.62326	D	0.03	-2.2724	8.0852	0.30769	0.1508:0.0:0.6705:0.1787	.	1053	Q04912	RON_HUMAN	W	1053;1004	ENSP00000296474:R1053W;ENSP00000341325:R1004W	ENSP00000296474:R1053W	R	-	1	2	MST1R	49907718	0.000000	0.05858	0.363000	0.25875	0.029000	0.11900	0.091000	0.15046	0.826000	0.34661	-0.215000	0.12644	CGG		0.567	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345403.1	0			3:49932714
FAM120A	23196	broad.mit.edu	37	9	96326634	96326634	+	Missense_Mutation	SNP	G	G	A	rs369844257		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr9:96326634G>A	ENST00000277165.6	+	18	3363	c.3169G>A	c.(3169-3171)Gag>Aag	p.E1057K	FAM120A_ENST00000333936.5_Missense_Mutation_p.E1085K|FAM120A_ENST00000340893.4_Missense_Mutation_p.E1011K|AL353629.1_ENST00000582353.1_RNA	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	1057	RNA binding.					cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						AGTGATGGCCGAGGAGAAGCC	0.537																																						ENST00000277165.6		NA																	0				endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(3169-3171)Gag>Aag		family with sequence similarity 120A		G	LYS/GLU	0,4406		0,0,2203	71.0	80.0	77.0		3169	5.3	1.0	9		77	1,8599	1.2+/-3.3	0,1,4299	no	missense	FAM120A	NM_014612.3	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	1057/1119	96326634	1,13005	2203	4300	6503	SO:0001583	missense	23196					cytoplasm|plasma membrane	RNA binding	g.chr9:96326634G>A	AF214737	CCDS6706.1, CCDS75859.1	9q22.31	2013-03-08	2006-07-04	2006-07-04	ENSG00000048828	ENSG00000048828			13247	protein-coding gene	gene with protein product	"""DNA polymerase-transactivated protein 1"", ""oxidative stess-associated Src activator"""	612265	"""chromosome 9 open reading frame 10"""	C9orf10		14585507	Standard	NM_001286722		Approved	KIAA0183, DNAPTP1, OSSA	uc004atw.3	Q9NZB2	OTTHUMG00000020252	ENST00000277165.6:c.3169G>A	9.37:g.96326634G>A	ENSP00000277165:p.Glu1057Lys	False	False		Somatic	0				FAM120A_ENST00000340893.4_Missense_Mutation_p.E1011K|FAM120A_ENST00000333936.5_Missense_Mutation_p.E1085K	p.E1057K	NM_014612.3	NP_055427.2	WXS	Illumina HiSeq	Phase_I	Q9NZB2	F120A_HUMAN			18	3363	+			1057			RNA binding.		A6NGU0|C4AMC6|O60649|Q14688|Q4VXF4|Q4VXF5|Q4VXG2|Q86V69|Q96I21|Q9NZB1	Missense_Mutation	SNP	ENST00000277165.6	37	c.3169G>A	CCDS6706.1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.013611	0.54468	0.0	1.16E-4	ENSG00000048828	ENST00000277165;ENST00000333936;ENST00000340893;ENST00000427765	T;T;T;T	0.47528	1.46;1.44;1.41;0.84	5.31	5.31	0.75309	.	0.000000	0.64402	D	0.000005	T	0.38692	0.1050	N	0.24115	0.695	0.51012	D	0.999903	P;B;P	0.45428	0.858;0.179;0.588	B;B;B	0.40009	0.316;0.024;0.142	T	0.37934	-0.9684	10	0.54805	T	0.06	-19.3722	18.9618	0.92680	0.0:0.0:1.0:0.0	.	1011;1085;1057	Q9NZB2-4;Q9NZB2-6;Q9NZB2	.;.;F120A_HUMAN	K	1057;1085;1011;433	ENSP00000277165:E1057K;ENSP00000334918:E1085K;ENSP00000344698:E1011K;ENSP00000412440:E433K	ENSP00000277165:E1057K	E	+	1	0	FAM120A	95366455	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.874000	0.63064	2.472000	0.83506	0.591000	0.81541	GAG		0.537	FAM120A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053160.2	0	NM_014612		9:96326634
SEPHS2	22928	broad.mit.edu	37	16	30456632	30456632	+	Missense_Mutation	SNP	G	G	T	rs202134725		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr16:30456632G>T	ENST00000478753.2	-	1	870	c.417C>A	c.(415-417)ttC>ttA	p.F139L	SEPHS2_ENST00000542752.1_Missense_Mutation_p.F82L|SEPHS2_ENST00000500504.2_Missense_Mutation_p.F139L			Q99611	SPS2_HUMAN	selenophosphate synthetase 2	139					selenocysteine biosynthetic process (GO:0016260)		ATP binding (GO:0005524)|selenide, water dikinase activity (GO:0004756)			breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						AGGGGTAAAAGAAGTCCGTGG	0.602																																					Esophageal Squamous(81;1142 1261 11202 24614 35697)	ENST00000478753.2		NA																	0				breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						c.(415-417)ttC>ttA		selenophosphate synthetase 2							51.0	52.0	52.0					16																	30456632		2009	4152	6161	SO:0001583	missense	22928				selenocysteine biosynthetic process		ATP binding|selenide, water dikinase activity	g.chr16:30456632G>T	BC002381		16p11.2	2013-02-15			ENSG00000179918	ENSG00000179918			19686	protein-coding gene	gene with protein product		606218				10608886	Standard	NM_012248		Approved	SPS2, SPS2b	uc021tgl.1	Q99611	OTTHUMG00000176988	ENST00000478753.2:c.417C>A	16.37:g.30456632G>T	ENSP00000418669:p.Phe139Leu	True	False		Somatic	0				SEPHS2_ENST00000542752.1_Missense_Mutation_p.F82L|SEPHS2_ENST00000500504.2_Missense_Mutation_p.F139L	p.F139L			WXS	Illumina HiSeq	Phase_I	Q99611	SPS2_HUMAN			1	870	-			139					Q9BUQ2	Missense_Mutation	SNP	ENST00000478753.2	37	c.417C>A		.	.	.	.	.	.	.	.	.	.	G	19.46	3.831271	0.71258	.	.	ENSG00000179918	ENST00000478753;ENST00000542752;ENST00000418751;ENST00000500504	T;T;T	0.28666	1.6;1.6;1.6	5.46	3.49	0.39957	PurM, N-terminal-like (1);AIR synthase-related protein (1);	0.000000	0.85682	D	0.000000	T	0.43366	0.1244	M	0.82056	2.57	0.80722	D	1	P;P	0.40144	0.704;0.582	P;B	0.49085	0.6;0.331	T	0.42531	-0.9446	10	0.62326	D	0.03	-18.3451	6.8368	0.23941	0.2644:0.0:0.7356:0.0	.	139;82	Q99611;F5H8F9	SPS2_HUMAN;.	L	139;82;90;139	ENSP00000418669:F139L;ENSP00000443601:F82L;ENSP00000426234:F139L	ENSP00000390233:F90L	F	-	3	2	SEPHS2	30364133	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.645000	0.37238	1.450000	0.47717	0.655000	0.94253	TTC		0.602	SEPHS2-001	KNOWN	basic|seleno	protein_coding	protein_coding	OTTHUMT00000109640.11	0	NM_012248		16:30456632
BRWD3	254065	broad.mit.edu	37	X	79971717	79971717	+	Missense_Mutation	SNP	T	T	A	rs146207659		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chrX:79971717T>A	ENST00000373275.4	-	20	2480	c.2264A>T	c.(2263-2265)gAc>gTc	p.D755V	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	755					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						GATTTCTATGTCACCTTTTGC	0.323																																						ENST00000373275.4		NA																	0				breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						c.(2263-2265)gAc>gTc		bromodomain and WD repeat domain containing 3							178.0	152.0	161.0					X																	79971717		2202	4300	6502	SO:0001583	missense	254065							g.chrX:79971717T>A		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.2264A>T	X.37:g.79971717T>A	ENSP00000362372:p.Asp755Val	False	False		Somatic	0				BRWD3_ENST00000473691.1_5'UTR	p.D755V	NM_153252.4	NP_694984	WXS	Illumina HiSeq	Phase_I	Q6RI45	BRWD3_HUMAN			20	2480	-			755					C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	c.2264A>T	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.388054	0.82902	.	.	ENSG00000165288	ENST00000373275	T	0.32753	1.44	5.17	5.17	0.71159	.	0.093262	0.64402	D	0.000001	T	0.39384	0.1076	L	0.46614	1.455	0.80722	D	1	P	0.52692	0.955	P	0.52793	0.709	T	0.10405	-1.0631	9	.	.	.	-18.5315	14.1257	0.65219	0.0:0.0:0.0:1.0	.	755	Q6RI45	BRWD3_HUMAN	V	755	ENSP00000362372:D755V	.	D	-	2	0	BRWD3	79858373	1.000000	0.71417	0.998000	0.56505	0.929000	0.56500	6.301000	0.72782	1.910000	0.55303	0.441000	0.28932	GAC		0.323	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	0	NM_153252		X:79971717
GPR116	221395	broad.mit.edu	37	6	46830721	46830721	+	Silent	SNP	G	G	A			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr6:46830721G>A	ENST00000283296.7	-	15	2391	c.2103C>T	c.(2101-2103)ggC>ggT	p.G701G	GPR116_ENST00000362015.4_Silent_p.G701G|GPR116_ENST00000456426.2_Silent_p.G559G|GPR116_ENST00000265417.7_Silent_p.G701G|GPR116_ENST00000545669.1_Silent_p.G130G	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	701					energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TGATGGTCCCGCCAATGGGAC	0.537																																					NSCLC(59;410 1274 8751 36715 50546)	ENST00000283296.7		NA																	0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(2101-2103)ggC>ggT		G protein-coupled receptor 116							104.0	106.0	105.0					6																	46830721		2203	4300	6503	SO:0001819	synonymous_variant	221395				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46830721G>A	AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.2103C>T	6.37:g.46830721G>A		True	False		Somatic	0				GPR116_ENST00000265417.7_Silent_p.G701G|GPR116_ENST00000456426.2_Silent_p.G559G|GPR116_ENST00000362015.4_Silent_p.G701G|GPR116_ENST00000545669.1_Silent_p.G130G	p.G701G	NM_001098518.1	NP_001091988.1	WXS	Illumina HiSeq	Phase_I	Q8IZF2	GP116_HUMAN	Lung(136;0.192)		15	2391	-			701					O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Silent	SNP	ENST00000283296.7	37	c.2103C>T	CCDS4919.1																																																																																				0.537	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	0	NM_015234		6:46830721
CNTN6	27255	broad.mit.edu	37	3	1418745	1418745	+	Missense_Mutation	SNP	G	G	A	rs140014929		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr3:1418745G>A	ENST00000446702.2	+	17	2779	c.2152G>A	c.(2152-2154)Gtc>Atc	p.V718I	CNTN6_ENST00000350110.2_Missense_Mutation_p.V718I|CNTN6_ENST00000539053.1_Missense_Mutation_p.V646I			Q9UQ52	CNTN6_HUMAN	contactin 6	718	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.V718I(2)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GTCTGAACTCGTCATTACGTG	0.373																																						ENST00000446702.2		NA																	2	Substitution - Missense(2)	p.V718I(2)	large_intestine(1)|pancreas(1)	breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(2152-2154)Gtc>Atc		contactin 6		G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	188.0	178.0	182.0		2152	-0.1	1.0	3	dbSNP_134	182	1,8599	1.2+/-3.3	0,1,4299	no	missense	CNTN6	NM_014461.2	29	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign	718/1029	1418745	2,13004	2203	4300	6503	SO:0001583	missense	27255				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		g.chr3:1418745G>A	AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.2152G>A	3.37:g.1418745G>A	ENSP00000407822:p.Val718Ile	False	False		Somatic	0				CNTN6_ENST00000539053.1_Missense_Mutation_p.V646I|CNTN6_ENST00000350110.2_Missense_Mutation_p.V718I	p.V718I			WXS	Illumina HiSeq	Phase_I	Q9UQ52	CNTN6_HUMAN		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	17	2779	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)	718			Fibronectin type-III 2.		Q2KHM2	Missense_Mutation	SNP	ENST00000446702.2	37	c.2152G>A	CCDS2557.1	.	.	.	.	.	.	.	.	.	.	G	13.96	2.392335	0.42410	2.27E-4	1.16E-4	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	T;T;T	0.53857	0.6;0.6;0.6	5.76	-0.13	0.13498	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.235772	0.29684	N	0.011465	T	0.40372	0.1114	L	0.43152	1.355	0.44395	D	0.997306	B	0.15930	0.015	B	0.10450	0.005	T	0.20405	-1.0276	10	0.32370	T	0.25	.	11.0846	0.48080	0.3437:0.0:0.6563:0.0	.	718	Q9UQ52	CNTN6_HUMAN	I	718;646;718	ENSP00000407822:V718I;ENSP00000442791:V646I;ENSP00000341882:V718I	ENSP00000341882:V718I	V	+	1	0	CNTN6	1393745	1.000000	0.71417	0.989000	0.46669	0.998000	0.95712	3.636000	0.54317	0.098000	0.17522	0.655000	0.94253	GTC		0.373	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	0	NM_014461		3:1418745
CSMD1	64478	broad.mit.edu	37	8	3263557	3263557	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr8:3263557C>T	ENST00000520002.1	-	16	2816	c.2261G>A	c.(2260-2262)cGc>cAc	p.R754H	CSMD1_ENST00000537824.1_Missense_Mutation_p.R753H|CSMD1_ENST00000602723.1_Missense_Mutation_p.R754H|CSMD1_ENST00000400186.3_Missense_Mutation_p.R754H|CSMD1_ENST00000542608.1_Missense_Mutation_p.R753H|CSMD1_ENST00000602557.1_Missense_Mutation_p.R754H|CSMD1_ENST00000539096.1_Missense_Mutation_p.R753H			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	754	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACCTTCACAGCGGGGCACGGT	0.532																																						ENST00000602557.1		NA																	0				breast(20)|large_intestine(5)	25						c.(2260-2262)cGc>cAc		CUB and Sushi multiple domains 1							48.0	50.0	49.0					8																	3263557		1996	4177	6173	SO:0001583	missense	64478					integral to membrane		g.chr8:3263557C>T			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.2261G>A	8.37:g.3263557C>T	ENSP00000430733:p.Arg754His	True	False		Somatic	0				CSMD1_ENST00000602723.1_Missense_Mutation_p.R754H|CSMD1_ENST00000400186.3_Missense_Mutation_p.R754H|CSMD1_ENST00000542608.1_Missense_Mutation_p.R753H|CSMD1_ENST00000520002.1_Missense_Mutation_p.R754H|CSMD1_ENST00000539096.1_Missense_Mutation_p.R753H|CSMD1_ENST00000537824.1_Missense_Mutation_p.R753H	p.R754H			WXS	Illumina HiSeq	Phase_I	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	16	2816	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	754			Sushi 4.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.2261G>A		.	.	.	.	.	.	.	.	.	.	C	31	5.072882	0.93950	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	T;T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14;-0.14	5.36	5.36	0.76844	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	T	0.72309	0.3444	L	0.42008	1.315	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.994	T	0.65364	-0.6186	10	0.15066	T	0.55	.	19.0906	0.93225	0.0:1.0:0.0:0.0	.	754;754	E5RIG2;Q96PZ7	.;CSMD1_HUMAN	H	754;754;616;753;753;753	ENSP00000383047:R754H;ENSP00000430733:R754H;ENSP00000441462:R753H;ENSP00000446243:R753H;ENSP00000441675:R753H	ENSP00000320445:R616H	R	-	2	0	CSMD1	3250964	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	7.287000	0.78681	2.486000	0.83907	0.591000	0.81541	CGC		0.532	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	0	NM_033225		8:3263557
SI	6476	broad.mit.edu	37	3	164786914	164786914	+	Missense_Mutation	SNP	C	C	T	rs149498200		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr3:164786914C>T	ENST00000264382.3	-	4	387	c.325G>A	c.(325-327)Gtt>Att	p.V109I		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	109	P-type 1. {ECO:0000255|PROSITE- ProRule:PRU00779}.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	TGATTATCAACGAAGAAGCAC	0.363										HNSCC(35;0.089)																												ENST00000264382.3		NA																	0				NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218						c.(325-327)Gtt>Att		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)	C	ILE/VAL	2,4404	4.2+/-10.8	0,2,2201	71.0	69.0	70.0		325	5.9	0.2	3	dbSNP_134	70	0,8600		0,0,4300	no	missense	SI	NM_001041.3	29	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign	109/1828	164786914	2,13004	2203	4300	6503	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164786914C>T	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.325G>A	3.37:g.164786914C>T	ENSP00000264382:p.Val109Ile	False	False	HNSCC(35;0.089)	Somatic	0					p.V109I	NM_001041.3	NP_001032.2	WXS	Illumina HiSeq	Phase_I	P14410	SUIS_HUMAN			4	387	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	109			P-type 1.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.325G>A	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	C	13.14	2.146805	0.37923	4.54E-4	0.0	ENSG00000090402	ENST00000264382	D	0.85171	-1.95	5.91	5.91	0.95273	Glycoside hydrolase-type carbohydrate-binding (1);P-type trefoil (3);	0.720617	0.14150	N	0.338066	T	0.82116	0.4967	L	0.57536	1.79	0.09310	N	1	P	0.35363	0.497	B	0.30029	0.11	T	0.77469	-0.2576	10	0.66056	D	0.02	.	13.0201	0.58781	0.2008:0.7992:0.0:0.0	.	109	P14410	SUIS_HUMAN	I	109	ENSP00000264382:V109I	ENSP00000264382:V109I	V	-	1	0	SI	166269608	0.005000	0.15991	0.209000	0.23619	0.343000	0.28985	1.081000	0.30791	2.802000	0.96397	0.655000	0.94253	GTT		0.363	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	0	NM_001041		3:164786914
PSMC6	5706	broad.mit.edu	37	14	53194224	53194224	+	Silent	SNP	C	C	T			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr14:53194224C>T	ENST00000606149.1	+	14	1075	c.1059C>T	c.(1057-1059)ttC>ttT	p.F353F	STYX_ENST00000442123.2_5'Flank|STYX_ENST00000354586.4_5'Flank|PSMC6_ENST00000557557.1_3'UTR|PSMC6_ENST00000445930.2_Silent_p.F367F	NM_002806.3	NP_002797.3	P62333	PRS10_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 6	353					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)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|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)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein binding, bridging (GO:0030674)			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	19	Breast(41;0.176)					CAGGTATGTTCGCAATTCGTG	0.323																																						ENST00000445930.2		NA																	0				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	19						c.(1099-1101)ttC>ttT		proteasome (prosome, macropain) 26S subunit, ATPase, 6							62.0	56.0	58.0					14																	53194224		2203	4300	6503	SO:0001819	synonymous_variant	5706				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|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|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 complex	ATP binding|ATPase activity|protein binding, bridging	g.chr14:53194224C>T		CCDS9710.2	14q22.1	2010-04-21			ENSG00000100519	ENSG00000100519		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9553	protein-coding gene	gene with protein product		602708				8674546, 9473509	Standard	NM_002806		Approved	p42	uc010tqx.2	P62333	OTTHUMG00000152333	ENST00000606149.1:c.1059C>T	14.37:g.53194224C>T		False	False		Somatic	0				PSMC6_ENST00000606149.1_Silent_p.F353F|PSMC6_ENST00000557557.1_3'UTR	p.F367F			WXS	Illumina HiSeq	Phase_I	P62333	PRS10_HUMAN			14	1107	+	Breast(41;0.176)		353					B2R975|P49719|Q6IBU3|Q92524	Silent	SNP	ENST00000606149.1	37	c.1101C>T																																																																																					0.323	PSMC6-018	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000470741.1	0	NM_002806		14:53194224
MAVS	57506	broad.mit.edu	37	20	3844972	3844972	+	Missense_Mutation	SNP	G	G	A	rs201823260		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr20:3844972G>A	ENST00000428216.2	+	6	823	c.695G>A	c.(694-696)cGt>cAt	p.R232H	MAVS_ENST00000358134.6_3'UTR|MAVS_ENST00000416600.2_Missense_Mutation_p.R91H	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	232					activation of innate immune response (GO:0002218)|cellular response to exogenous dsRNA (GO:0071360)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral genome replication (GO:0045071)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of IP-10 production (GO:0071660)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of peroxisome organization (GO:1900063)|RIG-I signaling pathway (GO:0039529)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	CARD domain binding (GO:0050700)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						CCCCTGGCCCGTTCCACCCCC	0.622																																						ENST00000428216.2		NA																	0				autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						c.(694-696)cGt>cAt		mitochondrial antiviral signaling protein		G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	71.0	68.0	69.0		272,695	4.7	0.8	20		69	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	MAVS	NM_001206491.1,NM_020746.4	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	91/400,232/541	3844972	1,13005	2203	4300	6503	SO:0001583	missense	57506				activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity	g.chr20:3844972G>A	DQ174270	CCDS33437.1, CCDS56176.1	20p13	2009-04-02			ENSG00000088888	ENSG00000088888			29233	protein-coding gene	gene with protein product	"""virus-induced signaling adaptor"", ""IFN-B promoter stimulator 1"", ""CARD adaptor inducing IFN-beta"""	609676				16125763, 16153868	Standard	NM_020746		Approved	VISA, KIAA1271, IPS-1, Cardif	uc002wjw.4	Q7Z434	OTTHUMG00000031765	ENST00000428216.2:c.695G>A	20.37:g.3844972G>A	ENSP00000401980:p.Arg232His	True	False		Somatic	0				MAVS_ENST00000358134.6_3'UTR|MAVS_ENST00000416600.2_Missense_Mutation_p.R91H	p.R232H	NM_020746.4	NP_065797.2	WXS	Illumina HiSeq	Phase_I	Q7Z434	MAVS_HUMAN			6	823	+			232					A8K6X0|B2BD33|B2BD34|F5H6C8|Q2HWT5|Q3I0Y2|Q5T7I6|Q86VY7|Q9H1H3|Q9H4Y1|Q9H8D3|Q9ULE9	Missense_Mutation	SNP	ENST00000428216.2	37	c.695G>A	CCDS33437.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.437866	0.83885	0.0	1.16E-4	ENSG00000088888	ENST00000416600;ENST00000428216	T;T	0.55760	0.5;1.96	4.72	4.72	0.59763	.	0.780557	0.11868	N	0.521739	T	0.63450	0.2512	L	0.46157	1.445	0.30885	N	0.731009	D	0.76494	0.999	P	0.61003	0.882	T	0.62243	-0.6895	10	0.59425	D	0.04	-5.5757	13.4262	0.61026	0.0:0.0:1.0:0.0	.	232	Q7Z434	MAVS_HUMAN	H	91;232	ENSP00000413749:R91H;ENSP00000401980:R232H	ENSP00000413749:R91H	R	+	2	0	MAVS	3792972	0.901000	0.30685	0.753000	0.31225	0.997000	0.91878	4.000000	0.57039	2.634000	0.89283	0.650000	0.86243	CGT		0.622	MAVS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077784.3	0	NM_020746		20:3844972
POLD1	5424	broad.mit.edu	37	19	50909518	50909518	+	Missense_Mutation	SNP	C	C	T	rs376711125		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr19:50909518C>T	ENST00000440232.2	+	11	1375	c.1322C>T	c.(1321-1323)aCg>aTg	p.T441M	POLD1_ENST00000595904.1_Missense_Mutation_p.T441M|POLD1_ENST00000599857.1_Missense_Mutation_p.T441M	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	441					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|fatty acid homeostasis (GO:0055089)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)|response to UV (GO:0009411)|small molecule metabolic process (GO:0044281)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|delta DNA polymerase complex (GO:0043625)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		TCCAAGCAGACGGGCCGGCGG	0.622								DNA polymerases (catalytic subunits)																														ENST00000440232.2		NA																	0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1321-1323)aCg>aTg	DNA polymerases (catalytic subunits)	polymerase (DNA directed), delta 1, catalytic subunit		C	MET/THR	0,4406		0,0,2203	68.0	72.0	70.0		1322	-2.9	0.7	19		70	2,8598	2.2+/-6.3	0,2,4298	no	missense	POLD1	NM_002691.2	81	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	441/1108	50909518	2,13004	2203	4300	6503	SO:0001583	missense	5424				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding	g.chr19:50909518C>T		CCDS12795.1	19q13.3	2014-09-17	2012-05-18		ENSG00000062822	ENSG00000062822		"""DNA polymerases"""	9175	protein-coding gene	gene with protein product	"""CDC2 homolog (S. cerevisiae)"""	174761	"""polymerase (DNA directed), delta 1, catalytic subunit (125kD)"""	POLD		1722322	Standard	NM_001256849		Approved	CDC2	uc002psc.5	P28340		ENST00000440232.2:c.1322C>T	19.37:g.50909518C>T	ENSP00000406046:p.Thr441Met	True	False		Somatic	0				POLD1_ENST00000599857.1_Missense_Mutation_p.T441M|POLD1_ENST00000595904.1_Missense_Mutation_p.T441M	p.T441M	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	WXS	Illumina HiSeq	Phase_I	P28340	DPOD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)	11	1375	+		all_neural(266;0.0571)	441					Q8NER3|Q96H98	Missense_Mutation	SNP	ENST00000440232.2	37	c.1322C>T	CCDS12795.1	.	.	.	.	.	.	.	.	.	.	C	2.450	-0.326515	0.05350	0.0	2.33E-4	ENSG00000062822	ENST00000440232;ENST00000376930	T	0.16073	2.37	4.54	-2.9	0.05648	DNA-directed DNA polymerase, family B, exonuclease domain (1);Ribonuclease H-like (1);	0.206121	0.46758	N	0.000280	T	0.01835	0.0058	N	0.00061	-2.33	0.23010	N	0.998434	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.43196	-0.9406	10	0.02654	T	1	-18.2908	6.7083	0.23262	0.1254:0.5005:0.0:0.3741	.	441;441	E7EVW0;P28340	.;DPOD1_HUMAN	M	441;442	ENSP00000406046:T441M	ENSP00000366129:T442M	T	+	2	0	POLD1	55601330	0.997000	0.39634	0.675000	0.29917	0.992000	0.81027	1.237000	0.32695	-0.404000	0.07610	-0.302000	0.09304	ACG		0.622	POLD1-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464732.1	0			19:50909518
THBS1	7057	broad.mit.edu	37	15	39884787	39884787	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr15:39884787C>T	ENST00000260356.5	+	17	2716	c.2551C>T	c.(2551-2553)Cgc>Tgc	p.R851C	CTD-2033D15.1_ENST00000560769.1_RNA	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	851					activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		TGACTCAGACCGCATTGGAGA	0.453																																						ENST00000260356.5		NA																	0				breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(2551-2553)Cgc>Tgc		thrombospondin 1	Becaplermin(DB00102)						48.0	42.0	44.0					15																	39884787		2200	4297	6497	SO:0001583	missense	7057				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding	g.chr15:39884787C>T		CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"""thrombospondin-1p180"""	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.2551C>T	15.37:g.39884787C>T	ENSP00000260356:p.Arg851Cys	False	False		Somatic	0					p.R851C	NM_003246.2	NP_003237.2	WXS	Illumina HiSeq	Phase_I	P07996	TSP1_HUMAN		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	17	2716	+		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)	851					A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Missense_Mutation	SNP	ENST00000260356.5	37	c.2551C>T	CCDS32194.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.345471	0.82022	.	.	ENSG00000137801	ENST00000260356	D	0.98400	-4.91	5.0	5.0	0.66597	.	0.492001	0.15344	N	0.267319	D	0.98510	0.9503	L	0.58101	1.795	0.58432	D	0.999996	B;D	0.89917	0.151;1.0	B;D	0.63381	0.075;0.914	D	0.99748	1.1017	10	0.66056	D	0.02	-5.5658	18.6342	0.91371	0.0:1.0:0.0:0.0	.	766;851	B4E3J7;P07996	.;TSP1_HUMAN	C	851	ENSP00000260356:R851C	ENSP00000260356:R851C	R	+	1	0	THBS1	37672079	0.997000	0.39634	0.999000	0.59377	0.996000	0.88848	6.081000	0.71309	2.474000	0.83562	0.655000	0.94253	CGC		0.453	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	0	NM_003246		15:39884787
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_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_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D	p.G12D	NM_004985.3	NP_004976.2	WXS	Illumina HiSeq	Phase_I	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	0	NM_033360		12:25398284
RHBDF1	64285	broad.mit.edu	37	16	108512	108512	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr16:108512G>A	ENST00000262316.6	-	18	2537	c.2395C>T	c.(2395-2397)Cgg>Tgg	p.R799W		NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	799					cell migration (GO:0016477)|cell proliferation (GO:0008283)|negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)|proteolysis (GO:0006508)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				CAGCGTTTCCGGTACAGGTCG	0.552																																						ENST00000262316.6		NA																	0				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18						c.(2395-2397)Cgg>Tgg		rhomboid 5 homolog 1 (Drosophila)							148.0	160.0	156.0					16																	108512		2203	4300	6503	SO:0001583	missense	64285				cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity	g.chr16:108512G>A	BC014425	CCDS32344.1	16p13.3	2008-02-05	2006-02-22		ENSG00000007384	ENSG00000007384			20561	protein-coding gene	gene with protein product		614403	"""chromosome 16 open reading frame 8"", ""rhomboid family 1 (Drosophila)"""	C16orf8		8318735, 15965977	Standard	NM_022450		Approved	EGFR-RS, FLJ2235, Dist1	uc002cfl.4	Q96CC6	OTTHUMG00000060719	ENST00000262316.6:c.2395C>T	16.37:g.108512G>A	ENSP00000262316:p.Arg799Trp	False	False		Somatic	0					p.R799W	NM_022450.3	NP_071895.3	WXS	Illumina HiSeq	Phase_I	Q96CC6	RHDF1_HUMAN			18	2537	-		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)	799					Q04842|Q1W6H2|Q4TT59|Q96S34|Q9H6E1	Missense_Mutation	SNP	ENST00000262316.6	37	c.2395C>T	CCDS32344.1	.	.	.	.	.	.	.	.	.	.	.	15.51	2.856054	0.51376	.	.	ENSG00000007384	ENST00000262316	T	0.55930	0.49	5.07	4.11	0.48088	.	0.052909	0.85682	D	0.000000	T	0.53465	0.1798	M	0.81942	2.565	0.80722	D	1	P	0.51449	0.945	B	0.42188	0.379	T	0.60875	-0.7176	10	0.87932	D	0	-26.6161	8.6392	0.33968	0.0821:0.0:0.7579:0.16	.	799	Q96CC6	RHDF1_HUMAN	W	799	ENSP00000262316:R799W	ENSP00000262316:R799W	R	-	1	2	RHBDF1	48512	1.000000	0.71417	1.000000	0.80357	0.449000	0.32228	7.637000	0.83313	1.270000	0.44297	-0.229000	0.12294	CGG		0.552	RHBDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134178.2	0	NM_022450		16:108512
RRN3P2	653390	broad.mit.edu	37	16	29110438	29110438	+	RNA	SNP	T	T	C			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr16:29110438T>C	ENST00000564580.1	+	0	1111							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2									p.L368P(6)									TTGCAGTATCTTCAGAGTCTG	0.328																																						ENST00000564580.1		NA																	6	Substitution - Missense(6)	p.L368P(6)	endometrium(5)|kidney(1)		NA																																														0							g.chr16:29110438T>C			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110438T>C		False	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	1111	+			NA						RNA	SNP	ENST00000564580.1	37			.	.	.	.	.	.	.	.	.	.	t	5.164	0.215759	0.09810	.	.	ENSG00000103472	ENST00000427965	.	.	.	1.93	1.93	0.25924	.	0.000000	0.64402	U	0.000008	T	0.52645	0.1747	.	.	.	.	.	.	.	.	.	.	.	.	T	0.63580	-0.6605	5	0.56958	D	0.05	.	7.5159	0.27600	0.0:0.0:0.0:1.0	.	.	.	.	P	368	.	ENSP00000398611:L368P	L	+	2	0	AC009093.1	29017939	1.000000	0.71417	0.752000	0.31206	0.354000	0.29330	6.384000	0.73177	0.893000	0.36288	0.155000	0.16302	CTT		0.328	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	0	NR_003369		16:29110438
SDK1	221935	broad.mit.edu	37	7	4119186	4119186	+	Silent	SNP	G	G	A	rs377121090		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr7:4119186G>A	ENST00000404826.2	+	22	3433	c.3294G>A	c.(3292-3294)acG>acA	p.T1098T	SDK1_ENST00000389531.3_Silent_p.T1098T	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1098	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		ACGGGAAAACGTCCATCTCCA	0.572																																						ENST00000404826.2		NA																	0				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(3292-3294)acG>acA		sidekick cell adhesion molecule 1							147.0	127.0	134.0					7																	4119186		2203	4300	6503	SO:0001819	synonymous_variant	221935				cell adhesion	integral to membrane		g.chr7:4119186G>A	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.3294G>A	7.37:g.4119186G>A		False	False		Somatic	0				SDK1_ENST00000389531.3_Silent_p.T1098T	p.T1098T	NM_152744.3	NP_689957.3	WXS	Illumina HiSeq	Phase_I	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	22	3433	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	1098			Fibronectin type-III 5.		Q8TEN9|Q8TEP5|Q96N44	Silent	SNP	ENST00000404826.2	37	c.3294G>A	CCDS34590.1																																																																																				0.572	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	0	NM_152744		7:4119186
KCNJ6	3763	broad.mit.edu	37	21	39087258	39087258	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr21:39087258C>T	ENST00000609713.1	-	3	791	c.202G>A	c.(202-204)Ggc>Agc	p.G68S	KCNJ6-IT1_ENST00000435001.1_RNA|KCNJ6_ENST00000288309.6_Missense_Mutation_p.G68S	NM_002240.3	NP_002231.1	P48051	KCNJ6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	68					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	CTCACGTTGCCGTGATGAACA	0.488																																					Pancreas(48;379 1118 2936 19024 28214)	ENST00000609713.1		NA																	0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22						c.(202-204)Ggc>Agc		potassium inwardly-rectifying channel, subfamily J, member 6	Halothane(DB01159)						262.0	246.0	251.0					21																	39087258		2047	4181	6228	SO:0001583	missense	3763				synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr21:39087258C>T	U24660	CCDS42927.1	21q22.1	2011-07-05			ENSG00000157542	ENSG00000157542		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6267	protein-coding gene	gene with protein product		600877		KCNJ7		7796919, 16382105	Standard	NM_002240		Approved	Kir3.2, GIRK2, KATP2, BIR1, hiGIRK2	uc002ywo.3	P48051	OTTHUMG00000086667	ENST00000609713.1:c.202G>A	21.37:g.39087258C>T	ENSP00000477437:p.Gly68Ser	False	False		Somatic	0				KCNJ6_ENST00000288309.6_Missense_Mutation_p.G68S	p.G68S	NM_002240.3	NP_002231.1	WXS	Illumina HiSeq	Phase_I	P48051	IRK6_HUMAN			3	791	-			NA					Q3MJ74|Q53WW6	Missense_Mutation	SNP	ENST00000609713.1	37	c.202G>A	CCDS42927.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.941544	0.73557	.	.	ENSG00000157542	ENST00000400482;ENST00000288309	D;D	0.93659	-3.26;-3.26	5.95	5.95	0.96441	Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.000000	0.85682	D	0.000000	D	0.96463	0.8846	M	0.69523	2.12	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94767	0.7941	10	0.33141	T	0.24	.	20.3932	0.98965	0.0:1.0:0.0:0.0	.	68	P48051	IRK6_HUMAN	S	68	ENSP00000383330:G68S;ENSP00000288309:G68S	ENSP00000288309:G68S	G	-	1	0	KCNJ6	38009128	1.000000	0.71417	0.994000	0.49952	0.624000	0.37722	7.818000	0.86416	2.824000	0.97209	0.655000	0.94253	GGC		0.488	KCNJ6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194828.2	0	NM_002240		21:39087258
TIMM50	92609	broad.mit.edu	37	19	39971399	39971399	+	5'Flank	SNP	A	A	C			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr19:39971399A>C	ENST00000607714.1	+	0	0				TIMM50_ENST00000314349.4_Missense_Mutation_p.H72P|TIMM50_ENST00000544017.1_5'Flank|TIMM50_ENST00000599794.1_5'Flank			Q3ZCQ8	TIM50_HUMAN	translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)						cellular protein metabolic process (GO:0044267)|mitochondrial membrane organization (GO:0007006)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein targeting to mitochondrion (GO:0006626)|release of cytochrome c from mitochondria (GO:0001836)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)	interleukin-2 receptor binding (GO:0005134)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|ribonucleoprotein complex binding (GO:0043021)|RNA binding (GO:0003723)			NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GCTTCCGTCCACCCGCCCCTC	0.697																																						ENST00000314349.4		NA																	0				NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14						c.(214-216)cAc>cCc		translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)							24.0	29.0	28.0					19																	39971399		2197	4300	6497	SO:0001631	upstream_gene_variant	92609				mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport	integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck	interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding	g.chr19:39971399A>C	BC009072	CCDS33023.1	19q13.2	2010-06-21	2006-04-04		ENSG00000105197	ENSG00000105197		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	23656	protein-coding gene	gene with protein product		607381	"""translocase of inner mitochondrial membrane 50 homolog (yeast)"""			12437925	Standard	NM_001001563		Approved	TIM50L	uc002olu.1	Q3ZCQ8			19.37:g.39971399A>C	Exception_encountered	True	False		Somatic	0					p.H72P	NM_001001563.1	NP_001001563.1	WXS	Illumina HiSeq	Phase_I	Q3ZCQ8	TIM50_HUMAN	Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		1	348	+	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		47					Q330K1|Q6QA00|Q96FJ5|Q96GY2|Q9H370	Missense_Mutation	SNP	ENST00000607714.1	37	c.215A>C		.	.	.	.	.	.	.	.	.	.	A	11.34	1.610993	0.28712	.	.	ENSG00000105197	ENST00000314349	.	.	.	3.79	-5.34	0.02705	.	0.896444	0.09581	N	0.782788	T	0.28466	0.0704	N	0.08118	0	0.33969	D	0.646621	B	0.25105	0.118	B	0.25884	0.064	T	0.28744	-1.0034	8	.	.	.	-2.5013	14.058	0.64781	0.2434:0.0:0.7566:0.0	.	72	Q3ZCQ8-2	.	P	72	.	.	H	+	2	0	TIMM50	44663239	0.013000	0.17824	0.005000	0.12908	0.060000	0.15804	-0.673000	0.05239	-1.401000	0.02058	-0.609000	0.04063	CAC		0.697	TIMM50-021	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470728.1	0	NM_001001563		19:39971399
SMAD4	4089	broad.mit.edu	37	18	48591918	48591918	+	Missense_Mutation	SNP	C	C	T	rs80338963		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr18:48591918C>T	ENST00000342988.3	+	9	1619	c.1081C>T	c.(1081-1083)Cgc>Tgc	p.R361C	SMAD4_ENST00000398417.2_Missense_Mutation_p.R361C|SMAD4_ENST00000588745.1_Missense_Mutation_p.R265C	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	361	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.		R -> C (in JPS; dbSNP:rs80338963). {ECO:0000269|PubMed:9811934}.|R -> H (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.R361C(3)|p.R361S(2)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TGGAGGAGATCGCTTTTGTTT	0.413																																						ENST00000342988.3		NA																	43	Whole gene deletion(36)|Substitution - Missense(5)|Unknown(2)	p.0?(36)|p.R361C(3)|p.R361S(2)|p.?(2)	pancreas(26)|large_intestine(4)|lung(3)|breast(3)|stomach(2)|small_intestine(2)|upper_aerodigestive_tract(1)|biliary_tract(1)|oesophagus(1)	NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454	GRCh37	CM040450|CM041789|CM981228	SMAD4	M	rs80338963	c.(1081-1083)Cgc>Tgc		SMAD family member 4							179.0	149.0	159.0					18																	48591918		2203	4300	6503	SO:0001583	missense	4089				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48591918C>T	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1081C>T	18.37:g.48591918C>T	ENSP00000341551:p.Arg361Cys	False	False		Somatic	0				SMAD4_ENST00000398417.2_Missense_Mutation_p.R361C|SMAD4_ENST00000588745.1_Missense_Mutation_p.R265C	p.R361C	NM_005359.5	NP_005350.1	WXS	Illumina HiSeq	Phase_I	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	9	1619	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	361		R -> C (in JPS).|R -> H (in a colorectal cancer sample; somatic mutation).	MH2.		A8K405	Missense_Mutation	SNP	ENST00000342988.3	37	c.1081C>T	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.820743	0.90873	.	.	ENSG00000141646	ENST00000342988;ENST00000544926;ENST00000398417	D;D	0.98164	-4.76;-4.76	5.86	5.86	0.93980	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.000000	0.85682	D	0.000000	D	0.99275	0.9747	M	0.94021	3.485	0.80722	A	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99157	1.0860	9	0.87932	D	0	.	18.9646	0.92691	0.0:1.0:0.0:0.0	.	361	Q13485	SMAD4_HUMAN	C	361	ENSP00000341551:R361C;ENSP00000381452:R361C	ENSP00000341551:R361C	R	+	1	0	SMAD4	46845916	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.718000	0.61930	2.771000	0.95319	0.563000	0.77884	CGC		0.413	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	0	NM_005359		18:48591918
WDR82	80335	broad.mit.edu	37	3	52292632	52292632	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr3:52292632C>A	ENST00000296490.3	-	8	1113	c.832G>T	c.(832-834)Gat>Tat	p.D278Y		NM_025222.3	NP_079498.2	Q6UXN9	WDR82_HUMAN	WD repeat domain 82	278					histone H3-K4 methylation (GO:0051568)	chromatin (GO:0000785)|histone methyltransferase complex (GO:0035097)|PTW/PP1 phosphatase complex (GO:0072357)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)								BRCA - Breast invasive adenocarcinoma(193;2.67e-05)|Kidney(197;0.00198)|KIRC - Kidney renal clear cell carcinoma(197;0.00223)|OV - Ovarian serous cystadenocarcinoma(275;0.246)		TGTTTACCATCCAACACAGCT	0.448																																						ENST00000296490.3		NA																	0					NA						c.(832-834)Gat>Tat		WD repeat domain 82							171.0	159.0	163.0					3																	52292632		1955	4145	6100	SO:0001583	missense	80335				histone H3-K4 methylation	chromatin|PTW/PP1 phosphatase complex|Set1C/COMPASS complex	protein binding	g.chr3:52292632C>A	AF132207	CCDS2851.2	3p21.2	2013-01-10	2007-07-04	2007-07-04	ENSG00000164091	ENSG00000164091		"""WD repeat domain containing"""	28826	protein-coding gene	gene with protein product		611059	"""transmembrane protein 113"""	TMEM113		17355966	Standard	NM_025222		Approved	PRO2730, MST107, MSTP107, PRO34047, WDR82A, SWD2	uc003ddl.2	Q6UXN9	OTTHUMG00000150391	ENST00000296490.3:c.832G>T	3.37:g.52292632C>A	ENSP00000296490:p.Asp278Tyr	False	False		Somatic	0					p.D278Y	NM_025222.3	NP_079498.2	WXS	Illumina HiSeq	Phase_I	Q6UXN9	WDR82_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.67e-05)|Kidney(197;0.00198)|KIRC - Kidney renal clear cell carcinoma(197;0.00223)|OV - Ovarian serous cystadenocarcinoma(275;0.246)	8	1113	-			278					A8K5R5|Q8TEB2	Missense_Mutation	SNP	ENST00000296490.3	37	c.832G>T	CCDS2851.2	.	.	.	.	.	.	.	.	.	.	C	21.4	4.143216	0.77888	.	.	ENSG00000164091	ENST00000296490	T	0.18502	2.21	5.87	5.87	0.94306	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.30103	0.0754	L	0.31065	0.9	0.80722	D	1	P	0.45531	0.86	P	0.57009	0.811	T	0.00708	-1.1600	10	0.66056	D	0.02	-12.5223	20.1957	0.98242	0.0:1.0:0.0:0.0	.	278	Q6UXN9	WDR82_HUMAN	Y	278	ENSP00000296490:D278Y	ENSP00000296490:D278Y	D	-	1	0	WDR82	52267672	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.581000	0.82535	2.780000	0.95670	0.563000	0.77884	GAT		0.448	WDR82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317919.1	0	NM_025222		3:52292632
IFNL3	282617	broad.mit.edu	37	19	39735442	39735442	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr19:39735442C>T	ENST00000413851.2	-	1	204	c.166G>A	c.(166-168)Gcc>Acc	p.A56T	IFNL4_ENST00000606380.1_RNA	NM_172139.2	NP_742151.2	Q8IZI9	IFNL3_HUMAN	interferon, lambda 3	56					defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|negative regulation of viral genome replication (GO:0045071)|positive regulation of immune response (GO:0050778)	extracellular space (GO:0005615)											GCATCTTTGGCCCTCTTAAAG	0.622																																						ENST00000413851.2		NA																	0					NA						c.(166-168)Gcc>Acc		interferon, lambda 3							21.0	23.0	23.0					19																	39735442		2203	4292	6495	SO:0001583	missense	282617							g.chr19:39735442C>T	AY129149	CCDS12530.1	19q13.13	2014-05-22	2012-11-26	2012-11-26	ENSG00000197110	ENSG00000197110		"""Interferons"""	18365	protein-coding gene	gene with protein product		607402	"""interleukin 28B"", ""interleukin 28B (interferon, lambda 3)"""	IL28B			Standard	NM_172139		Approved	IL-28B, IL28C	uc010xut.2	Q8IZI9	OTTHUMG00000182805	ENST00000413851.2:c.166G>A	19.37:g.39735442C>T	ENSP00000409000:p.Ala56Thr	True	False		Somatic	0					p.A56T	NM_172139.2	NP_742151.2	WXS	Illumina HiSeq	Phase_I					1	204	-			NA					A2BDE1|Q6VN56|Q7Z4J3|Q8IWL6	Missense_Mutation	SNP	ENST00000413851.2	37	c.166G>A	CCDS12530.1	.	.	.	.	.	.	.	.	.	.	C	12.04	1.817179	0.32145	.	.	ENSG00000197110	ENST00000413851	T	0.36699	1.24	2.97	2.97	0.34412	.	0.260216	0.27509	N	0.019046	T	0.33876	0.0878	M	0.67700	2.07	0.30374	N	0.782632	B	0.25105	0.118	B	0.21360	0.034	T	0.39187	-0.9626	10	0.51188	T	0.08	-6.9809	9.5565	0.39341	0.0:1.0:0.0:0.0	.	56	Q8IZI9	IL28B_HUMAN	T	56	ENSP00000409000:A56T	ENSP00000409000:A56T	A	-	1	0	IL28B	44427282	0.052000	0.20516	0.529000	0.27951	0.663000	0.39108	0.475000	0.22164	1.697000	0.51169	0.194000	0.17425	GCC		0.622	IFNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463832.1	0	NM_172139		19:39735442
FIGN	55137	broad.mit.edu	37	2	164466403	164466403	+	Nonsense_Mutation	SNP	G	G	A			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr2:164466403G>A	ENST00000333129.3	-	3	2253	c.1939C>T	c.(1939-1941)Cga>Tga	p.R647*	FIGN_ENST00000482917.1_5'Flank|FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	647					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						ATTAAAAGTCGTTTCATGAAG	0.443																																						ENST00000333129.3		NA																	0				breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						c.(1939-1941)Cga>Tga		fidgetin							99.0	97.0	98.0					2																	164466403		2014	4168	6182	SO:0001587	stop_gained	55137					nuclear matrix	ATP binding|nucleoside-triphosphatase activity	g.chr2:164466403G>A	AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"""ATPases / AAA-type"""	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.1939C>T	2.37:g.164466403G>A	ENSP00000333836:p.Arg647*	True	False		Somatic	0				FIGN_ENST00000409634.1_Intron	p.R647*	NM_018086.2	NP_060556.2	WXS	Illumina HiSeq	Phase_I	Q5HY92	FIGN_HUMAN			3	2253	-			647					B3KWM0|Q9H6M5|Q9NVZ9	Nonsense_Mutation	SNP	ENST00000333129.3	37	c.1939C>T	CCDS2221.2	.	.	.	.	.	.	.	.	.	.	G	39	7.338110	0.98221	.	.	ENSG00000182263	ENST00000333129	.	.	.	5.77	4.87	0.63330	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-24.9622	13.5518	0.61736	0.0:0.0:0.708:0.292	.	.	.	.	X	647	.	ENSP00000333836:R647X	R	-	1	2	FIGN	164174649	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.912000	0.56386	1.382000	0.46385	0.467000	0.42956	CGA		0.443	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157220.2	0	NM_018086		2:164466403
