#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
RBM4	5936	broad.mit.edu	37	11	66411364	66411384	+	In_Frame_Del	DEL	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-	-	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr11:66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	ENST00000409406.1	+	2	1633_1653	c.856_876delGCTGCTGCTGCAGCAGCAGCC	c.(856-876)gctgctgctgcagcagcagccdel	p.AAAAAAA286del	RBM4_ENST00000514361.3_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000530235.1_Intron|RBM4_ENST00000310092.7_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000578778.1_Intron|RBM4_ENST00000398692.4_Intron|RBM4_ENST00000503028.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000506523.2_Intron|RBM14-RBM4_ENST00000412278.2_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000408993.2_In_Frame_Del_p.AAAAAAA286del|RBM14-RBM4_ENST00000500635.2_Intron			Q9BWF3	RBM4_HUMAN	RNA binding motif protein 4	286	Interaction with TNPO3.|Poly-Ala.				cap-independent translational initiation (GO:0002190)|cell differentiation (GO:0030154)|circadian regulation of translation (GO:0097167)|entrainment of circadian clock by photoperiod (GO:0043153)|IRES-dependent translational initiation (GO:0002192)|mRNA processing (GO:0006397)|negative regulation of translation (GO:0017148)|negative regulation of translation in response to stress (GO:0032055)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of nucleocytoplasmic transport (GO:0046822)|response to arsenic-containing substance (GO:0046685)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|stress-activated MAPK cascade (GO:0051403)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	miRNA binding (GO:0035198)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA intronic binding (GO:0097157)|pre-mRNA intronic pyrimidine-rich binding (GO:0097158)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		tgctgccacagctgctgctgcagcagcagccgctgctgctg	0.615																																						ENST00000412278.2		NA																	0					NA						c.(781-801)gctgctgctgcagcagcagccdel																																						SO:0001651	inframe_deletion	0							g.chr11:66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	U89505	CCDS41676.1, CCDS55776.1, CCDS55777.1	11q13	2013-02-12			ENSG00000173933	ENSG00000173933		"""Zinc fingers, CCHC domain containing"", ""RNA binding motif (RRM) containing"""	9901	protein-coding gene	gene with protein product		602571				9169144, 16260624	Standard	NM_002896		Approved	LARK, RBM4A, ZCRB3A, ZCCHC21		Q9BWF3	OTTHUMG00000154171	ENST00000409406.1:c.856_876delGCTGCTGCTGCAGCAGCAGCC	11.37:g.66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	ENSP00000386894:p.Ala286_Ala292del	True	False		Somatic	1				RBM4_ENST00000506523.2_Intron|RBM4_ENST00000409406.1_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000503028.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000578778.1_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000408993.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000514361.3_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000398692.4_Intron|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000530235.1_Intron|RBM4_ENST00000310092.7_In_Frame_Del_p.AAAAAAA286del	p.AAAAAAA261del	NM_001198845.1	NP_001185774.1	WXS	Illumina HiSeq	Phase_I					2	876_896	+			NA					B3KUN0|B4E1U0|E7EQS3|O02916|Q4VC48|Q6P1P2|Q8WU85	In_Frame_Del	DEL	ENST00000409406.1	37	c.781_801delGCTGCTGCTGCAGCAGCAGCC	CCDS41676.1																																																																																				0.615	RBM4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334212.1	0	NM_002896		11:66411364
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-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	-	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	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
NCOA3	8202	broad.mit.edu	37	20	46279833	46279834	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	GC	GC	-	-	GC	GC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr20:46279833_46279834delGC	ENST00000371998.3	+	20	3950_3951	c.3759_3760delGC	c.(3757-3762)cagcaafs	p.QQ1253fs	NCOA3_ENST00000371997.3_Frame_Shift_Del_p.QQ1244fs|NCOA3_ENST00000341724.6_Frame_Shift_Del_p.QQ1179fs|NCOA3_ENST00000372004.3_Frame_Shift_Del_p.QQ1249fs			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1253	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcaacagcagca	0.55																																						ENST00000372004.3		NA																	0				breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(3745-3750)cagcaafs		nuclear receptor coactivator 3																																				SO:0001589	frameshift_variant	8202				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	g.chr20:46279833_46279834delGC	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.3759_3760delGC	20.37:g.46279833_46279834delGC	ENSP00000361066:p.Gln1253fs	True	False		Somatic	1				NCOA3_ENST00000371998.3_Frame_Shift_Del_p.QQ1253fs|NCOA3_ENST00000341724.6_Frame_Shift_Del_p.QQ1179fs|NCOA3_ENST00000371997.3_Frame_Shift_Del_p.QQ1244fs	p.QQ1249fs	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	WXS	Illumina HiSeq	Phase_I	Q9Y6Q9	NCOA3_HUMAN			20	3963_3964	+			1253		Missing.	Acetyltransferase.|Poly-Gln.		A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Frame_Shift_Del	DEL	ENST00000371998.3	37	c.3747_3748delGC	CCDS13407.1																																																																																				0.550	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	0	NM_006534		20:46279833
ANKRD36	375248	broad.mit.edu	37	2	97847365	97847368	+	Splice_Site	DEL	TAAT	TAAT	-	rs375413411		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	TAAT	TAAT	-	-	TAAT	TAAT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr2:97847365_97847368delTAAT	ENST00000461153.2	+	25	2008		c.e25+2		ANKRD36_ENST00000420699.2_Splice_Site			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36											endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						GCTGAGAAGGTAATTAAAGTCTCA	0.314																																						ENST00000461153.2		NA																	0				endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						c.e25+2		ankyrin repeat domain 36																																				SO:0001630	splice_region_variant	375248							g.chr2:97847365_97847368delTAAT	BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"""Ankyrin repeat domain containing"""	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.1764+2TAAT>-	2.37:g.97847365_97847368delTAAT		False	False		Somatic	1				ANKRD36_ENST00000420699.2_Splice_Site				WXS	Illumina HiSeq	Phase_I	A6QL64	AN36A_HUMAN			25	2008	+			NA					B4E3I8|Q6UX02|Q86X62|Q9HCD1	Splice_Site	DEL	ENST00000461153.2	37		CCDS54379.1																																																																																				0.314	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5	0		Intron	2:97847365
RIOK1	83732	broad.mit.edu	37	6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-	rs2274212|rs368069269	byFrequency	TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433																																						ENST00000379834.2		NA																	1	Substitution - Missense(1)	p.D57G(1)	large_intestine(1)	cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(190-192)gacdel		RIO kinase 1																																				SO:0001651	inframe_deletion	83732						ATP binding|protein serine/threonine kinase activity	g.chr6:7393450_7393452delGAC	BC006104	CCDS4500.1	6p24.3	2012-12-10	2012-12-10		ENSG00000124784	ENSG00000124784			18656	protein-coding gene	gene with protein product			"""RIO kinase 1 (yeast)"""				Standard	NM_031480		Approved	AD034, FLJ30006, bA288G3.1, RRP10	uc003mxn.3	Q9BRS2	OTTHUMG00000014207	ENST00000379834.2:c.190_192delGAC	6.37:g.7393450_7393452delGAC	ENSP00000369162:p.Asp69del	False	False		Somatic	1					p.D69del	NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	WXS	Illumina HiSeq	Phase_I	Q9BRS2	RIOK1_HUMAN			2	697_699	+	Ovarian(93;0.0418)		69					B2RB28|Q8NDC8|Q96NV9	In_Frame_Del	DEL	ENST00000379834.2	37	c.190_192delGAC	CCDS4500.1																																																																																				0.433	RIOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039780.2	0	NM_031480		6:7393450
AEBP1	165	broad.mit.edu	37	7	44153778	44153780	+	In_Frame_Del	DEL	AGA	AGA	-	rs13928	byFrequency	TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	AGA	AGA	-	-	AGA	AGA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr7:44153778_44153780delAGA	ENST00000223357.3	+	21	3700_3702	c.3395_3397delAGA	c.(3394-3399)gagaaa>gaa	p.K1133del	AEBP1_ENST00000450684.2_In_Frame_Del_p.K708del	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	1133	Glu-rich.|Interaction with MAPK1 and MAPK3. {ECO:0000250}.|Required for transcriptional repression. {ECO:0000250}.		K -> E (in dbSNP:rs13928). {ECO:0000269|Ref.3}.		cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						gaggaggaggagaaagaggagga	0.552																																						ENST00000223357.3		NA																	0				NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						c.(3394-3399)gagaaa>gaa		AE binding protein 1																																				SO:0001651	inframe_deletion	165				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:44153778_44153780delAGA	D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"""aortic carboxypeptidase-like protein"", ""adipocyte enhancer binding protein 1"""	602981	"""AE-binding protein 1"""			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.3395_3397delAGA	7.37:g.44153778_44153780delAGA	ENSP00000223357:p.Lys1133del	True	False		Somatic	1				AEBP1_ENST00000450684.2_In_Frame_Del_p.K708del	p.K1133del	NM_001129.3	NP_001120.3	WXS	Illumina HiSeq	Phase_I	Q8IUX7	AEBP1_HUMAN			21	3700_3702	+			1133		K -> E (in dbSNP:rs13928).	Glu-rich.|Interaction with MAPK1 and MAPK3 (By similarity).|Required for transcriptional repression (By similarity).		Q14113|Q59ER7|Q6ZSC7|Q7KZ79	In_Frame_Del	DEL	ENST00000223357.3	37	c.3395_3397delAGA	CCDS5476.1																																																																																				0.552	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250993.2	0	NM_001129		7:44153778
CFTR	1080	broad.mit.edu	37	7	117188841	117188843	+	In_Frame_Del	DEL	GTT	GTT	-	rs377319489|rs397508194		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	GTT	GTT	-	-	GTT	GTT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr7:117188841_117188843delGTT	ENST00000003084.6	+	10	1488_1490	c.1356_1358delGTT	c.(1354-1359)cagttg>cag	p.L454del	CFTR_ENST00000454343.1_Intron	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	454	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	AAAGAGGACAGTTGTTGGCGGTT	0.379									Cystic Fibrosis																													ENST00000003084.6		NA																	0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69						c.(1354-1359)cagttg>cag		cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	Bumetanide(DB00887)|Glibenclamide(DB01016)																																			SO:0001651	inframe_deletion	1080	Cystic Fibrosis	Familial Cancer Database	CF	respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding	g.chr7:117188841_117188843delGTT	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"""Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators"", ""ATP binding cassette transporters / subfamily C"""	1884	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family C, member 7"""	602421	"""cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"""	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.1356_1358delGTT	7.37:g.117188844_117188846delGTT	ENSP00000003084:p.Leu454del	False	False		Somatic	2				CFTR_ENST00000454343.1_Intron	p.L454del	NM_000492.3	NP_000483.3	WXS	Illumina HiSeq	Phase_I	P13569	CFTR_HUMAN	STAD - Stomach adenocarcinoma(10;0.000534)		10	1488_1490	+	Lung NSC(10;0.00148)|all_lung(10;0.00171)		454			ABC transporter 1.		Q20BG8|Q20BH2|Q2I0A1|Q2I102	In_Frame_Del	DEL	ENST00000003084.6	37	c.1356_1358delGTT	CCDS5773.1																																																																																				0.379	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	0	NM_000492		7:117188841
PABPC1	26986	broad.mit.edu	37	8	101719034	101719035	+	Splice_Site	INS	-	-	AACACACTGTGTTGACATGACTTGTGGAACCTG			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr8:101719034_101719035insAACACACTGTGTTGACATGACTTGTGGAACCTG	ENST00000318607.5	-	11	2576		c.e11-1		PABPC1_ENST00000519004.1_Splice_Site|PABPC1_ENST00000522387.1_Splice_Site|AP001205.1_ENST00000579868.1_RNA|PABPC1_ENST00000519596.1_Intron	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494)			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			GATGTGTTAGCTAAAAAATAAG	0.426																																						ENST00000318607.5		NA																	0				breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40						c.e11-1		poly(A) binding protein, cytoplasmic 1																																				SO:0001630	splice_region_variant	26986				mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity	g.chr8:101719034_101719035insAACACACTGTGTTGACATGACTTGTGGAACCTG	Y00345	CCDS6289.1	8q22.2-q23	2013-02-12	2004-04-20		ENSG00000070756	ENSG00000070756		"""RNA binding motif (RRM) containing"""	8554	protein-coding gene	gene with protein product		604679	"""poly(A)-binding protein, cytoplasmic 2"""	PAB1, PABPC2		2885805	Standard	XM_005250861		Approved	PABP1, PABPL1	uc003yjs.1	P11940	OTTHUMG00000164779	ENST00000318607.5:c.1448-1->CAGGTTCCACAAGTCATGTCAACACAGTGTGTT	8.37:g.101719034_101719035insAACACACTGTGTTGACATGACTTGTGGAACCTG		True	False		Somatic	0				PABPC1_ENST00000522387.1_Splice_Site|PABPC1_ENST00000519596.1_Intron|PABPC1_ENST00000519004.1_Splice_Site		NM_002568.3	NP_002559.2	WXS	Illumina HiSeq	Phase_I	P11940	PABP1_HUMAN	Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)		11	2576	-	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		NA					Q15097|Q93004	Splice_Site	INS	ENST00000318607.5	37		CCDS6289.1																																																																																				0.426	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1	0	NM_002568	Intron	8:101719034
WASH6P	653440	broad.mit.edu	37	X	155254905	155254905	+	RNA	SNP	G	G	C			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chrX:155254905G>C	ENST00000461007.1	+	0	3821				AJ271736.10_ENST00000285718.7_RNA			Q9NQA3	WASH6_HUMAN	WAS protein family homolog 6 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)										TTTCCCTCCAGGCATCTCTGG	0.597																																						ENST00000285718.7		NA																	0					NA																																														0							g.chrX:155254905G>C	AI042587		Xq28 and Yq12	2014-08-28	2008-01-16	2008-01-16	ENSG00000182484	ENSG00000182484		"""Pseudoautosomal regions / PAR2"", ""WAS protein homologs"""	31685	pseudogene	pseudogene			"""family with sequence similarity 39, member A"", ""chromosomes X and Y open reading frame 1"""	FAM39A, CXYorf1		10655549, 12566406, 18159949	Standard	NG_008380		Approved			Q9NQA3	OTTHUMG00000022677		X.37:g.155254905G>C		False	False		Somatic	0				WASH6P_ENST00000461007.1_RNA				WXS	Illumina HiSeq	Phase_I					0	1210	+			NA					A6NGF1|Q8N305	RNA	SNP	ENST00000461007.1	37			.	.	.	.	.	.	.	.	.	.	g	13.19	2.161974	0.38217	.	.	ENSG00000182484	ENST00000359512;ENST00000285718	.	.	.	0.379	0.379	0.16213	.	.	.	.	.	.	.	.	.	.	.	0.18873	N	0.999986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1	.	.	.	+	.	.	WASH6P	154908099	1.000000	0.71417	0.179000	0.23059	0.637000	0.38172	4.457000	0.60088	0.418000	0.25898	0.171000	0.16805	.		0.597	WASH6P-016	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000058840.1	0	NG_008380		X:155254905
GPR135	64582	broad.mit.edu	37	14	59930560	59930560	+	Missense_Mutation	SNP	C	C	T	rs201849909		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr14:59930560C>T	ENST00000395116.1	-	1	1500	c.1385G>A	c.(1384-1386)cGc>cAc	p.R462H		NM_022571.5	NP_072093.2	Q8IZ08	GP135_HUMAN	G protein-coupled receptor 135	462						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R462H(2)		breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.134)		TGGATTTTTGCGGGCCCACAT	0.607													c|||	1	0.000199681	0.0	0.0	5008	,	,		14292	0.001		0.0	False		,,,				2504	0.0					ENST00000395116.1		NA																	2	Substitution - Missense(2)	p.R462H(2)	lung(1)|endometrium(1)	breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(1384-1386)cGc>cAc		G protein-coupled receptor 135							33.0	35.0	34.0					14																	59930560		2203	4300	6503	SO:0001583	missense	64582					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr14:59930560C>T	AY288418	CCDS9738.1	14q23.1	2012-08-21			ENSG00000181619	ENSG00000181619		"""GPCR / Class A : Orphans"""	19991	protein-coding gene	gene with protein product		607970				14623098	Standard	NM_022571		Approved	HUMNPIIY20, PAFR	uc010apj.3	Q8IZ08	OTTHUMG00000140325	ENST00000395116.1:c.1385G>A	14.37:g.59930560C>T	ENSP00000378548:p.Arg462His	True	False		Somatic	0					p.R462H	NM_022571.5	NP_072093.2	WXS	Illumina HiSeq	Phase_I	Q8IZ08	GP135_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.134)	1	1500	-			462					Q7Z604|Q86SM3|Q8NH39	Missense_Mutation	SNP	ENST00000395116.1	37	c.1385G>A	CCDS9738.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	c	22.5	4.292998	0.80914	.	.	ENSG00000181619	ENST00000395116	T	0.61980	0.06	4.89	3.08	0.35506	.	0.387780	0.22539	U	0.058753	T	0.46034	0.1372	N	0.24115	0.695	0.80722	D	1	B	0.09022	0.002	B	0.04013	0.001	T	0.30297	-0.9983	10	0.39692	T	0.17	-2.7593	11.0647	0.47968	0.0:0.8502:0.0:0.1498	.	462	Q8IZ08	GP135_HUMAN	H	462	ENSP00000378548:R462H	ENSP00000378548:R462H	R	-	2	0	GPR135	59000313	1.000000	0.71417	0.940000	0.37924	0.994000	0.84299	3.548000	0.53670	0.675000	0.31264	0.651000	0.88453	CGC		0.607	GPR135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276941.1	0	NM_022571		14:59930560
PLS3	5358	broad.mit.edu	37	X	114871228	114871228	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chrX:114871228G>A	ENST00000420625.2	+	8	963	c.829G>A	c.(829-831)Gca>Aca	p.A277T	PLS3_ENST00000539310.1_Missense_Mutation_p.A232T|PLS3_ENST00000537301.1_Missense_Mutation_p.A255T|PLS3_ENST00000355899.3_Missense_Mutation_p.A277T|PLS3_ENST00000289290.3_Missense_Mutation_p.A232T	NM_001136025.3|NM_001172335.1|NM_001282338.1	NP_001129497.1|NP_001165806.1|NP_001269267.1	P13797	PLST_HUMAN	plastin 3	277	Actin-binding 1.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				bone development (GO:0060348)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)	26						GCTTAGATGGGCAAACTTTCA	0.388																																					Colon(160;1047 1864 8490 12969 29601)	ENST00000420625.2		NA																	0				NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)	26						c.(829-831)Gca>Aca		plastin 3							124.0	125.0	125.0					X																	114871228		2203	4300	6503	SO:0001583	missense	5358					cytoplasm	actin binding|calcium ion binding	g.chrX:114871228G>A	L05491	CCDS14568.1, CCDS65312.1	Xq23	2013-01-10	2010-02-10		ENSG00000102024	ENSG00000102024		"""EF-hand domain containing"""	9091	protein-coding gene	gene with protein product		300131	"""plastin 3 (T isoform)"""			8428952	Standard	NM_005032		Approved	T-plastin	uc004eqe.3	P13797	OTTHUMG00000022237	ENST00000420625.2:c.829G>A	X.37:g.114871228G>A	ENSP00000398945:p.Ala277Thr	True	False		Somatic	0				PLS3_ENST00000355899.3_Missense_Mutation_p.A277T|PLS3_ENST00000539310.1_Missense_Mutation_p.A232T|PLS3_ENST00000289290.3_Missense_Mutation_p.A232T|PLS3_ENST00000537301.1_Missense_Mutation_p.A255T	p.A277T	NM_001136025.3|NM_001172335.1|NM_001282338.1	NP_001129497.1|NP_001165806.1|NP_001269267.1	WXS	Illumina HiSeq	Phase_I	P13797	PLST_HUMAN			8	963	+			277			Actin-binding 1.|CH 2.		A8K579|B1AQ09|B4DGB4|B7Z6M1|Q86YI6	Missense_Mutation	SNP	ENST00000420625.2	37	c.829G>A	CCDS14568.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.679800	0.88542	.	.	ENSG00000102024	ENST00000355899;ENST00000537301;ENST00000289290;ENST00000420625;ENST00000539310	D;D;D;D;D	0.95069	-3.6;-3.6;-3.6;-3.6;-3.6	5.66	5.66	0.87406	Calponin homology domain (5);	0.095206	0.64402	D	0.000001	D	0.94394	0.8197	M	0.65975	2.015	0.80722	D	1	B;P;P	0.42620	0.242;0.785;0.636	B;B;B	0.43809	0.164;0.236;0.432	D	0.94546	0.7749	10	0.54805	T	0.06	-11.3604	17.1434	0.86760	0.0:0.0:1.0:0.0	.	250;255;277	B4DPW9;B4DGB4;P13797	.;.;PLST_HUMAN	T	277;255;232;277;232	ENSP00000348163:A277T;ENSP00000445105:A255T;ENSP00000289290:A232T;ENSP00000398945:A277T;ENSP00000445339:A232T	ENSP00000289290:A232T	A	+	1	0	PLS3	114777484	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.476000	0.97823	2.363000	0.80096	0.538000	0.68166	GCA		0.388	PLS3-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057976.2	0			X:114871228
LILRB2	10288	broad.mit.edu	37	19	54782828	54782828	+	Missense_Mutation	SNP	C	C	T	rs532414442		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr19:54782828C>T	ENST00000391749.4	-	6	1065	c.794G>A	c.(793-795)cGc>cAc	p.R265H	LILRB2_ENST00000391746.1_Missense_Mutation_p.R265H|LILRB2_ENST00000314446.5_Missense_Mutation_p.R265H|LILRB2_ENST00000471216.1_5'Flank|LILRB2_ENST00000391748.1_Missense_Mutation_p.R265H|LILRB2_ENST00000434421.1_Missense_Mutation_p.R149H	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	265	Ig-like C2-type 3.				cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|negative regulation of antigen processing and presentation (GO:0002578)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of dendritic cell differentiation (GO:2001198)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|inhibitory MHC class I receptor activity (GO:0032396)|MHC class I protein binding (GO:0042288)|MHC class Ib protein binding (GO:0023029)|protein phosphatase 1 binding (GO:0008157)|receptor activity (GO:0004872)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		AGGGAGCTGGCGAAGGTCACG	0.637																																						ENST00000391748.1		NA																	0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44						c.(793-795)cGc>cAc		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2							71.0	74.0	73.0					19																	54782828		2203	4300	6503	SO:0001583	missense	0				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	g.chr19:54782828C>T	AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6606	protein-coding gene	gene with protein product		604815				9151699, 9079806	Standard	XM_006722966		Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391749.4:c.794G>A	19.37:g.54782828C>T	ENSP00000375629:p.Arg265His	False	False		Somatic	0				LILRB2_ENST00000434421.1_Missense_Mutation_p.R149H|LILRB2_ENST00000314446.5_Missense_Mutation_p.R265H|LILRB2_ENST00000391749.4_Missense_Mutation_p.R265H|LILRB2_ENST00000391746.1_Missense_Mutation_p.R265H	p.R265H	NM_001278403.1	NP_001265332.1	WXS	Illumina HiSeq	Phase_I	Q8N423	LIRB2_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	6	921	-	Ovarian(34;0.19)		265			Ig-like C2-type 3.		A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	Missense_Mutation	SNP	ENST00000391749.4	37	c.794G>A	CCDS12886.1	.	.	.	.	.	.	.	.	.	.	C	12.71	2.018126	0.35606	.	.	ENSG00000131042	ENST00000391748;ENST00000314446;ENST00000391749;ENST00000391746;ENST00000434421	T;T;T;T;T	0.12465	2.68;2.68;2.68;2.68;2.68	2.6	-3.34	0.04943	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.782710	0.03355	N	0.196682	T	0.17704	0.0425	L	0.42581	1.335	0.09310	N	1	D;P;D	0.58970	0.961;0.933;0.984	P;P;P	0.53809	0.735;0.735;0.735	T	0.24154	-1.0168	10	0.23302	T	0.38	.	5.3689	0.16129	0.6328:0.1698:0.1974:0.0	.	265;282;265	A8MU67;E7EVY1;Q8N423	.;.;LIRB2_HUMAN	H	265;265;265;265;149	ENSP00000375628:R265H;ENSP00000319960:R265H;ENSP00000375629:R265H;ENSP00000375626:R265H;ENSP00000410117:R149H	ENSP00000319960:R265H	R	-	2	0	LILRB2	59474640	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.344000	0.02639	-1.121000	0.02949	-1.465000	0.01017	CGC		0.637	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139510.1	0			19:54782828
SMAD4	4089	broad.mit.edu	37	18	48593394	48593394	+	Missense_Mutation	SNP	A	A	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr18:48593394A>T	ENST00000342988.3	+	10	1683	c.1145A>T	c.(1144-1146)cAc>cTc	p.H382L	SMAD4_ENST00000398417.2_Missense_Mutation_p.H382L|SMAD4_ENST00000588745.1_Missense_Mutation_p.H286L	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	382	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				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.?(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)		CTAAGGTTGCACATAGGCAAA	0.338																																						ENST00000342988.3		NA																	38	Whole gene deletion(36)|Unknown(2)	p.0?(36)|p.?(2)	pancreas(26)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|upper_aerodigestive_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						c.(1144-1146)cAc>cTc		SMAD family member 4							180.0	151.0	161.0					18																	48593394		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.chr18:48593394A>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.1145A>T	18.37:g.48593394A>T	ENSP00000341551:p.His382Leu	False	False		Somatic	0				SMAD4_ENST00000398417.2_Missense_Mutation_p.H382L|SMAD4_ENST00000588745.1_Missense_Mutation_p.H286L	p.H382L	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)	10	1683	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	382			MH2.		A8K405	Missense_Mutation	SNP	ENST00000342988.3	37	c.1145A>T	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	A	28.2	4.901257	0.92035	.	.	ENSG00000141646	ENST00000342988;ENST00000544926;ENST00000398417	D;D	0.98822	-5.16;-5.16	5.65	5.65	0.86999	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.000000	0.85682	D	0.000000	D	0.98874	0.9619	M	0.67700	2.07	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99873	1.1099	10	0.87932	D	0	.	14.8693	0.70444	1.0:0.0:0.0:0.0	.	382	Q13485	SMAD4_HUMAN	L	382	ENSP00000341551:H382L;ENSP00000381452:H382L	ENSP00000341551:H382L	H	+	2	0	SMAD4	46847392	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.236000	0.95360	2.151000	0.67156	0.460000	0.39030	CAC		0.338	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	0	NM_005359		18:48593394
NBEA	26960	broad.mit.edu	37	13	35630161	35630161	+	Silent	SNP	C	C	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr13:35630161C>T	ENST00000400445.3	+	7	1521	c.987C>T	c.(985-987)agC>agT	p.S329S	NBEA_ENST00000540320.1_Silent_p.S329S|NBEA_ENST00000379939.2_Silent_p.S329S|NBEA_ENST00000310336.4_Silent_p.S329S	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	329					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		ACATGATCAGCATTGTCCACA	0.318																																						ENST00000540320.1		NA																	0				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108						c.(985-987)agC>agT		neurobeachin							161.0	143.0	148.0					13																	35630161		1848	4085	5933	SO:0001819	synonymous_variant	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:35630161C>T	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.987C>T	13.37:g.35630161C>T		False	False		Somatic	0				NBEA_ENST00000400445.3_Silent_p.S329S|NBEA_ENST00000379939.2_Silent_p.S329S|NBEA_ENST00000310336.4_Silent_p.S329S	p.S329S			WXS	Illumina HiSeq	Phase_I	Q8NFP9	NBEA_HUMAN		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	7	1521	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	329					B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Silent	SNP	ENST00000400445.3	37	c.987C>T	CCDS45026.1																																																																																				0.318	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		0	NM_015678		13:35630161
MYH4	4622	broad.mit.edu	37	17	10348217	10348217	+	Splice_Site	SNP	C	C	A			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr17:10348217C>A	ENST00000255381.2	-	38	5577		c.e38-1		CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle						actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GCTCTCTCACCTGGAAGGGAA	0.483																																						ENST00000255381.2		NA																	0				NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						c.e38-1		myosin, heavy chain 4, skeletal muscle							261.0	205.0	224.0					17																	10348217		2203	4300	6503	SO:0001630	splice_region_variant	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10348217C>A		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.5467-1G>T	17.37:g.10348217C>A		False	False		Somatic	0				RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA		NM_017533.2	NP_060003.2	WXS	Illumina HiSeq	Phase_I	Q9Y623	MYH4_HUMAN			38	5577	-			NA						Splice_Site	SNP	ENST00000255381.2	37		CCDS11154.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.308539	0.81247	.	.	ENSG00000141048	ENST00000255381	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7739	0.96383	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MYH4	10288942	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	7.776000	0.85560	2.744000	0.94065	0.655000	0.94253	.		0.483	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	0	NM_017533	Intron	17:10348217
PASK	23178	broad.mit.edu	37	2	242046038	242046038	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr2:242046038C>A	ENST00000405260.1	-	18	4613	c.3915G>T	c.(3913-3915)gaG>gaT	p.E1305D	PASK_ENST00000358649.4_Missense_Mutation_p.E1312D|PASK_ENST00000544142.1_Missense_Mutation_p.E1119D|PASK_ENST00000475666.1_5'Flank|PASK_ENST00000539818.1_Missense_Mutation_p.E1089D|PASK_ENST00000234040.4_Missense_Mutation_p.E1305D	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	1305					negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CATTAGGAGCCTCGCCTGGAA	0.572																																						ENST00000405260.1		NA																	0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53						c.(3913-3915)gaG>gaT		PAS domain containing serine/threonine kinase							90.0	101.0	97.0					2																	242046038		2203	4300	6503	SO:0001583	missense	23178				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr2:242046038C>A	U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.3915G>T	2.37:g.242046038C>A	ENSP00000384016:p.Glu1305Asp	False	False		Somatic	0				PASK_ENST00000234040.4_Missense_Mutation_p.E1305D|PASK_ENST00000544142.1_Missense_Mutation_p.E1119D|PASK_ENST00000539818.1_Missense_Mutation_p.E1089D|PASK_ENST00000358649.4_Missense_Mutation_p.E1312D	p.E1305D	NM_001252120.1	NP_001239049.1	WXS	Illumina HiSeq	Phase_I	Q96RG2	PASK_HUMAN		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)	18	4613	-		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	1305					G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Missense_Mutation	SNP	ENST00000405260.1	37	c.3915G>T	CCDS2545.1	.	.	.	.	.	.	.	.	.	.	C	9.775	1.173846	0.21704	.	.	ENSG00000115687	ENST00000234040;ENST00000544142;ENST00000405260;ENST00000358649;ENST00000539818	T;T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.3;-0.33	3.19	2.23	0.28157	.	.	.	.	.	T	0.50240	0.1604	L	0.44542	1.39	0.09310	N	1	B;P;B;B	0.36874	0.213;0.572;0.318;0.213	B;B;B;B	0.29176	0.033;0.099;0.073;0.033	T	0.37407	-0.9707	9	0.39692	T	0.17	.	5.618	0.17442	0.0:0.833:0.0:0.167	.	1270;1119;1312;1305	B7Z7R6;F5GYW7;Q96RG2-2;Q96RG2	.;.;.;PASK_HUMAN	D	1305;1119;1305;1312;1089	ENSP00000234040:E1305D;ENSP00000441374:E1119D;ENSP00000384016:E1305D;ENSP00000351475:E1312D;ENSP00000443083:E1089D	ENSP00000234040:E1305D	E	-	3	2	PASK	241694711	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.621000	0.24418	0.827000	0.34685	-0.355000	0.07637	GAG		0.572	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	0	NM_015148		2:242046038
CRYBB3	1417	broad.mit.edu	37	22	25597368	25597368	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr22:25597368C>T	ENST00000215855.2	+	2	85	c.5C>T	c.(4-6)gCg>gTg	p.A2V	CRYBB3_ENST00000404334.1_Missense_Mutation_p.A2V	NM_004076.3	NP_004067.1	P26998	CRBB3_HUMAN	crystallin, beta B3	2	N-terminal arm.				visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)	p.A2V(1)		large_intestine(2)|lung(2)|prostate(1)	5						GGGGAGATGGCGGAACAGCAC	0.597																																						ENST00000215855.2		NA																	1	Substitution - Missense(1)	p.A2V(1)	prostate(1)	large_intestine(2)|lung(2)|prostate(1)	5						c.(4-6)gCg>gTg		crystallin, beta B3							85.0	89.0	88.0					22																	25597368		2203	4300	6503	SO:0001583	missense	1417				visual perception		protein binding|structural constituent of eye lens	g.chr22:25597368C>T		CCDS13830.1	22q11.23	2008-06-10			ENSG00000100053	ENSG00000100053			2400	protein-coding gene	gene with protein product		123630		CRYB3		8999933	Standard	NM_004076		Approved		uc003abo.2	P26998	OTTHUMG00000150869	ENST00000215855.2:c.5C>T	22.37:g.25597368C>T	ENSP00000215855:p.Ala2Val	False	False		Somatic	0				CRYBB3_ENST00000404334.1_Missense_Mutation_p.A2V	p.A2V	NM_004076.3	NP_004067.1	WXS	Illumina HiSeq	Phase_I	P26998	CRBB3_HUMAN			2	85	+			2			N-terminal arm.		Q3B7S9|Q3T1B7|Q6ISK6|Q92965|Q9UH09	Missense_Mutation	SNP	ENST00000215855.2	37	c.5C>T	CCDS13830.1	.	.	.	.	.	.	.	.	.	.	C	10.28	1.307872	0.23821	.	.	ENSG00000100053	ENST00000215855;ENST00000404334	T;T	0.79554	-0.93;-1.28	4.81	2.29	0.28610	.	0.512848	0.13707	U	0.368369	T	0.64382	0.2593	L	0.34521	1.04	0.28366	N	0.920233	B	0.34313	0.448	B	0.25140	0.058	T	0.61192	-0.7112	10	0.72032	D	0.01	.	3.7975	0.08746	0.1677:0.5667:0.1634:0.1022	.	2	P26998	CRBB3_HUMAN	V	2	ENSP00000215855:A2V;ENSP00000386123:A2V	ENSP00000215855:A2V	A	+	2	0	CRYBB3	23927368	0.964000	0.33143	0.869000	0.34112	0.052000	0.14988	2.195000	0.42677	1.018000	0.39521	-0.122000	0.15005	GCG		0.597	CRYBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320352.1	0	NM_004076		22:25597368
IGHG1	3500	broad.mit.edu	37	14	106207924	106207924	+	RNA	SNP	G	G	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr14:106207924G>T	ENST00000390548.2	-	0	878							P01857	IGHG1_HUMAN	immunoglobulin heavy constant gamma 1 (G1m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										TGTCCACGGTGAGCTTGCTGT	0.592																																						ENST00000390548.2		NA																	0					NA															146.0	103.0	117.0					14																	106207924		1979	4121	6100			0							g.chr14:106207924G>T	J00228		14q32.33	2012-10-02			ENSG00000211896	ENSG00000211896		"""Immunoglobulins / IGH locus"""	5525	other	immunoglobulin gene		147100					Standard	NG_001019		Approved		uc001yse.3	P01857	OTTHUMG00000152495		14.37:g.106207924G>T		False	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	878	-			NA						RNA	SNP	ENST00000390548.2	37																																																																																						0.592	IGHG1-002	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest	IG_C_gene	IG_C_gene	OTTHUMT00000326504.1	0	NG_001019		14:106207924
ZNF335	63925	broad.mit.edu	37	20	44578999	44578999	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr20:44578999C>T	ENST00000322927.2	-	22	3446	c.3346G>A	c.(3346-3348)Ggg>Agg	p.G1116R	ZNF335_ENST00000426788.1_Missense_Mutation_p.G961R	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	1116					brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212)	p.G1116W(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				TTGAGGTGCCCGTTACGGTTG	0.612																																						ENST00000322927.2		NA																	1	Substitution - Missense(1)	p.G1116W(1)	lung(1)	NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51						c.(3346-3348)Ggg>Agg		zinc finger protein 335							97.0	100.0	99.0					20																	44578999		2203	4300	6503	SO:0001583	missense	63925				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:44578999C>T	AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026		"""Zinc fingers, C2H2-type"""	15807	protein-coding gene	gene with protein product	"""NRC-interacting factor 1"""	610827				12215545, 19131338	Standard	NM_022095		Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637	ENST00000322927.2:c.3346G>A	20.37:g.44578999C>T	ENSP00000325326:p.Gly1116Arg	True	False		Somatic	0				ZNF335_ENST00000426788.1_Missense_Mutation_p.G961R	p.G1116R	NM_022095.3	NP_071378.1	WXS	Illumina HiSeq	Phase_I	Q9H4Z2	ZN335_HUMAN			22	3446	-		Myeloproliferative disorder(115;0.0122)	1116					B4DLG7|Q548D0|Q9H684	Missense_Mutation	SNP	ENST00000322927.2	37	c.3346G>A	CCDS13389.1	.	.	.	.	.	.	.	.	.	.	C	17.10	3.302358	0.60195	.	.	ENSG00000198026	ENST00000322927;ENST00000243961;ENST00000426788	T;T	0.10192	3.05;2.9	4.64	4.64	0.57946	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.21227	0.0511	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.989	T	0.03077	-1.1075	10	0.72032	D	0.01	-33.3619	17.0199	0.86431	0.0:1.0:0.0:0.0	.	961;1116	Q9H4Z2-2;Q9H4Z2	.;ZN335_HUMAN	R	1116;893;961	ENSP00000325326:G1116R;ENSP00000397098:G961R	ENSP00000243961:G893R	G	-	1	0	ZNF335	44012406	1.000000	0.71417	0.964000	0.40570	0.400000	0.30750	7.178000	0.77657	2.585000	0.87301	0.655000	0.94253	GGG		0.612	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079553.1	0	NM_022095		20:44578999
LRP1	4035	broad.mit.edu	37	12	57606324	57606324	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr12:57606324G>A	ENST00000243077.3	+	89	14087	c.13621G>A	c.(13621-13623)Gac>Aac	p.D4541N		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	4541	Interaction with MAFB. {ECO:0000250}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CGAGATAGGGGACCCCTTGGC	0.677																																						ENST00000243077.3		NA																	0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(13621-13623)Gac>Aac		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						36.0	36.0	36.0					12																	57606324		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57606324G>A	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.13621G>A	12.37:g.57606324G>A	ENSP00000243077:p.Asp4541Asn	True	False		Somatic	0					p.D4541N	NM_002332.2	NP_002323.2	WXS	Illumina HiSeq	Phase_I	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	89	14087	+			4541			Interaction with MAFB (By similarity).		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.13621G>A	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.978696	0.74360	.	.	ENSG00000123384	ENST00000243077	D	0.91068	-2.78	4.66	4.66	0.58398	.	0.000000	0.56097	D	0.000037	D	0.85932	0.5812	L	0.44542	1.39	0.80722	D	1	B	0.27498	0.18	B	0.24848	0.056	D	0.84674	0.0713	10	0.66056	D	0.02	.	10.7064	0.45958	0.0925:0.0:0.9075:0.0	.	4541	Q07954	LRP1_HUMAN	N	4541	ENSP00000243077:D4541N	ENSP00000243077:D4541N	D	+	1	0	LRP1	55892591	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.464000	0.80887	2.403000	0.81681	0.491000	0.48974	GAC		0.677	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	0	NM_002332		12:57606324
SLFN5	162394	broad.mit.edu	37	17	33591445	33591445	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr17:33591445C>T	ENST00000299977.4	+	4	1530	c.1382C>T	c.(1381-1383)gCg>gTg	p.A461V	SLFN5_ENST00000542451.1_Intron	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	461					cell differentiation (GO:0030154)	nucleus (GO:0005634)	ATP binding (GO:0005524)	p.A461V(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		AAGTGGGATGCGGGGTGCAAG	0.488																																						ENST00000299977.4		NA																	1	Substitution - Missense(1)	p.A461V(1)	large_intestine(1)	breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34						c.(1381-1383)gCg>gTg		schlafen family member 5							106.0	101.0	102.0					17																	33591445		2203	4300	6503	SO:0001583	missense	162394				cell differentiation		ATP binding	g.chr17:33591445C>T	BX647942	CCDS32619.1	17q12	2006-04-05				ENSG00000166750			28286	protein-coding gene	gene with protein product		614952				9846487	Standard	NM_144975		Approved	MGC19764	uc002hjf.4	Q08AF3		ENST00000299977.4:c.1382C>T	17.37:g.33591445C>T	ENSP00000299977:p.Ala461Val	True	False		Somatic	0				SLFN5_ENST00000542451.1_Intron	p.A461V	NM_144975.3	NP_659412.3	WXS	Illumina HiSeq	Phase_I	Q08AF3	SLFN5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)	4	1530	+		Ovarian(249;0.17)	461					Q08AF2|Q8WU54|Q96A82	Missense_Mutation	SNP	ENST00000299977.4	37	c.1382C>T	CCDS32619.1	.	.	.	.	.	.	.	.	.	.	c	10.19	1.281290	0.23392	.	.	ENSG00000166750	ENST00000299977	T	0.02103	4.45	3.46	-6.55	0.01854	.	3.058740	0.01369	N	0.012514	T	0.02688	0.0081	M	0.62723	1.935	0.09310	N	1	B	0.14438	0.01	B	0.04013	0.001	T	0.43065	-0.9414	10	0.32370	T	0.25	.	2.054	0.03577	0.1462:0.4354:0.1471:0.2712	.	461	Q08AF3	SLFN5_HUMAN	V	461	ENSP00000299977:A461V	ENSP00000299977:A461V	A	+	2	0	SLFN5	30615558	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-2.060000	0.01392	-1.294000	0.02360	-0.302000	0.09304	GCG		0.488	SLFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448649.2	0	NM_144975		17:33591445
LYPD3	27076	broad.mit.edu	37	19	43965886	43965886	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr19:43965886G>A	ENST00000244333.3	-	5	746	c.658C>T	c.(658-660)Cgc>Tgc	p.R220C		NM_014400.2	NP_055215.2	O95274	LYPD3_HUMAN	LY6/PLAUR domain containing 3	220	UPAR/Ly6 2.				cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2)	11		Prostate(69;0.0153)				GAGTTACAGCGGGACCCCTGG	0.622																																						ENST00000244333.3		NA																	0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2)	11						c.(658-660)Cgc>Tgc		LY6/PLAUR domain containing 3							92.0	95.0	94.0					19																	43965886		2203	4300	6503	SO:0001583	missense	27076					anchored to plasma membrane		g.chr19:43965886G>A	AF082889	CCDS12620.1	19q13.31	2008-02-05				ENSG00000124466			24880	protein-coding gene	gene with protein product		609484				11179665, 11245483	Standard	NM_014400		Approved	C4.4A	uc002owl.1	O95274		ENST00000244333.3:c.658C>T	19.37:g.43965886G>A	ENSP00000244333:p.Arg220Cys	True	False		Somatic	0					p.R220C	NM_014400.2	NP_055215.2	WXS	Illumina HiSeq	Phase_I	O95274	LYPD3_HUMAN			5	746	-		Prostate(69;0.0153)	220			UPAR/Ly6 2.		Q9UJ74	Missense_Mutation	SNP	ENST00000244333.3	37	c.658C>T	CCDS12620.1	.	.	.	.	.	.	.	.	.	.	G	18.23	3.578355	0.65878	.	.	ENSG00000124466	ENST00000244333;ENST00000377995	T	0.69926	-0.44	4.38	4.38	0.52667	CD59 antigen (1);	0.194301	0.35067	N	0.003473	T	0.71829	0.3386	L	0.36672	1.1	0.48975	D	0.999739	D	0.89917	1.0	D	0.70716	0.97	T	0.70461	-0.4865	10	0.38643	T	0.18	.	13.21	0.59819	0.0:0.0:1.0:0.0	.	220	O95274	LYPD3_HUMAN	C	220;168	ENSP00000244333:R220C	ENSP00000244333:R220C	R	-	1	0	LYPD3	48657726	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.529000	0.60588	2.396000	0.81511	0.603000	0.83216	CGC		0.622	LYPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463177.1	0	NM_014400		19:43965886
GNAS	2778	broad.mit.edu	37	20	57484421	57484421	+	Missense_Mutation	SNP	G	G	A	rs121913495		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr20:57484421G>A	ENST00000371085.3	+	8	1026	c.602G>A	c.(601-603)cGt>cAt	p.R201H	GNAS_ENST00000306090.10_Missense_Mutation_p.R187H|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371095.3_Missense_Mutation_p.R187H|GNAS_ENST00000371100.4_Missense_Mutation_p.R844H|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000265620.7_Missense_Mutation_p.R186H|GNAS_ENST00000354359.7_Missense_Mutation_p.R202H|GNAS_ENST00000371102.4_Missense_Mutation_p.R830H|GNAS_ENST00000371075.3_3'UTR	NM_000516.4	NP_000507.1	P63092	GNAS2_HUMAN	GNAS complex locus	201			R -> C (in MAS and somatotrophinoma; dbSNP:rs11554273). {ECO:0000269|PubMed:1944469, ECO:0000269|PubMed:2549426}.|R -> G (in MAS). {ECO:0000269|PubMed:10571700}.|R -> H (in MAS, somatotrophinoma and AIMAH1). {ECO:0000269|PubMed:12727968, ECO:0000269|PubMed:1594625, ECO:0000269|PubMed:1944469, ECO:0000269|PubMed:2549426}.|R -> L (in non-MAS endocrine tumors). {ECO:0000269|PubMed:7751320}.|R -> S (in AIMAH1, pituitary tumor and polyostotic fibrous dysplasia). {ECO:0000269|PubMed:12727968, ECO:0000269|PubMed:8766942, ECO:0000269|PubMed:9267696}.		activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.R201H(81)|p.R844H(4)|p.R201L(2)|p.R844L(1)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CTTCGCTGCCGTGTCCTGACT	0.423			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)	ENST00000371100.4		NA		Dom	yes		20	20q13.2	2778	Mis	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""	E			pituitary adenoma		88	Substitution - Missense(88)	p.R201H(81)|p.R844H(4)|p.R201L(2)|p.R844L(1)	pancreas(28)|large_intestine(19)|thyroid(12)|pituitary(12)|liver(6)|biliary_tract(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|stomach(1)|small_intestine(1)|ovary(1)	adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441						c.(2530-2532)cGt>cAt		GNAS complex locus							80.0	78.0	79.0					20																	57484421		2203	4300	6503	SO:0001583	missense	2778				activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	g.chr20:57484421G>A	M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371085.3:c.602G>A	20.37:g.57484421G>A	ENSP00000360126:p.Arg201His	False	False	TSP Lung(22;0.16)	Somatic	0				GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000306090.10_Missense_Mutation_p.R187H|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000354359.7_Missense_Mutation_p.R202H|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000371085.3_Missense_Mutation_p.R201H|GNAS_ENST00000265620.7_Missense_Mutation_p.R186H|GNAS_ENST00000371102.4_Missense_Mutation_p.R830H|GNAS_ENST00000371095.3_Missense_Mutation_p.R187H	p.R844H	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	WXS	Illumina HiSeq	Phase_I	P63092	GNAS2_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)		8	3083	+	all_lung(29;0.0104)		201					A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	ENST00000371085.3	37	c.2531G>A	CCDS13472.1	.	.	.	.	.	.	.	.	.	.	G	35	5.430570	0.96150	.	.	ENSG00000087460	ENST00000371100;ENST00000371102;ENST00000371095;ENST00000371085;ENST00000354359;ENST00000265620;ENST00000306090	D;D;D;D;D;D;D	0.99458	-5.93;-5.93;-5.93;-5.93;-5.93;-2.96;-5.93	5.53	5.53	0.82687	G protein alpha subunit, helical insertion (2);	0.000000	0.85682	D	0.000000	D	0.99799	0.9914	H	0.98965	4.385	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;0.994;0.983;1.0	D	0.96812	0.9597	10	0.87932	D	0	.	19.4606	0.94915	0.0:0.0:1.0:0.0	.	201;202;186;844	P63092;A6NI00;P63092-3;Q5JWF2	GNAS2_HUMAN;.;.;GNAS1_HUMAN	H	844;830;187;201;202;186;187	ENSP00000360141:R844H;ENSP00000360143:R830H;ENSP00000360136:R187H;ENSP00000360126:R201H;ENSP00000346328:R202H;ENSP00000265620:R186H;ENSP00000304472:R187H	ENSP00000265620:R186H	R	+	2	0	GNAS	56917816	1.000000	0.71417	0.963000	0.40424	0.936000	0.57629	9.291000	0.96070	2.596000	0.87737	0.563000	0.77884	CGT		0.423	GNAS-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080431.2	0	NM_000516		20:57484421
CHD8	57680	broad.mit.edu	37	14	21868724	21868724	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr14:21868724C>T	ENST00000557364.1	-	23	4681	c.4418G>A	c.(4417-4419)cGt>cAt	p.R1473H	CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Missense_Mutation_p.R1194H|CHD8_ENST00000399982.2_Missense_Mutation_p.R1473H			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1473					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TTCAGTCATACGTCGCTTGAA	0.428																																						ENST00000399982.2		NA																	0				NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85						c.(4417-4419)cGt>cAt		chromodomain helicase DNA binding protein 8							63.0	62.0	62.0					14																	21868724		1859	4101	5960	SO:0001583	missense	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21868724C>T	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.4418G>A	14.37:g.21868724C>T	ENSP00000451601:p.Arg1473His	False	False		Somatic	0				CHD8_ENST00000557364.1_Missense_Mutation_p.R1473H|CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Missense_Mutation_p.R1194H	p.R1473H	NM_001170629.1	NP_001164100.1	WXS	Illumina HiSeq	Phase_I	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	22	4482	-	all_cancers(95;0.00121)		1473					Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	ENST00000557364.1	37	c.4418G>A	CCDS53885.1	.	.	.	.	.	.	.	.	.	.	C	10.69	1.421067	0.25639	.	.	ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364	D;D;D	0.83335	-1.71;-1.71;-1.71	4.92	4.92	0.64577	.	0.061161	0.64402	D	0.000003	T	0.66327	0.2778	N	0.11313	0.125	0.51012	D	0.999901	B;B	0.11235	0.001;0.004	B;B	0.11329	0.005;0.006	T	0.61202	-0.7110	10	0.22706	T	0.39	-8.9064	10.6212	0.45481	0.0:0.9113:0.0:0.0887	.	1473;1194	Q9HCK8;Q9HCK8-2	CHD8_HUMAN;.	H	1194;1473;1193;1473	ENSP00000406288:R1194H;ENSP00000382863:R1473H;ENSP00000451601:R1473H	ENSP00000262707:R1193H	R	-	2	0	CHD8	20938564	0.947000	0.32204	1.000000	0.80357	0.974000	0.67602	2.058000	0.41374	2.546000	0.85860	0.650000	0.86243	CGT		0.428	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	0	NM_020920		14:21868724
OR1L4	254973	broad.mit.edu	37	9	125486583	125486583	+	Silent	SNP	C	C	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr9:125486583C>T	ENST00000259466.1	+	1	315	c.315C>T	c.(313-315)ttC>ttT	p.F105F		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	105						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F105F(1)		breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						TGTACTTCTTCATGGCATTTG	0.473																																						ENST00000259466.1		NA																	1	Substitution - coding silent(1)	p.F105F(1)	lung(1)	breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						c.(313-315)ttC>ttT		olfactory receptor, family 1, subfamily L, member 4							156.0	143.0	147.0					9																	125486583		2203	4300	6503	SO:0001819	synonymous_variant	254973				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125486583C>T		CCDS35129.1	9q33.2	2013-09-20			ENSG00000136939	ENSG00000136939		"""GPCR / Class A : Olfactory receptors"""	8216	protein-coding gene	gene with protein product				OR1L5			Standard	NM_001005235		Approved	OR9-E	uc004bmu.1	Q8NGR5	OTTHUMG00000020620	ENST00000259466.1:c.315C>T	9.37:g.125486583C>T		False	False		Somatic	0					p.F105F	NM_001005235.1	NP_001005235.1	WXS	Illumina HiSeq	Phase_I	Q8NGR5	OR1L4_HUMAN			1	315	+			105					Q6IFN0|Q96R81	Silent	SNP	ENST00000259466.1	37	c.315C>T	CCDS35129.1																																																																																				0.473	OR1L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053951.1	0			9:125486583
SIGLEC14	100049587	broad.mit.edu	37	19	52149092	52149092	+	Missense_Mutation	SNP	C	C	T	rs111981406	byFrequency	TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr19:52149092C>T	ENST00000360844.6	-	3	684	c.643G>A	c.(643-645)Gtg>Atg	p.V215M	SIGLEC5_ENST00000429354.3_Intron|SIGLEC5_ENST00000222107.4_Intron|SIGLEC5_ENST00000534261.2_5'Flank|SIGLEC5_ENST00000599649.1_Intron	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14	215	Ig-like C2-type 1.				cell adhesion (GO:0007155)|innate immune response (GO:0045087)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.V215M(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		TGGCGTTTCACCTGACAGGTG	0.647													C|||	4	0.000798722	0.0	0.0	5008	,	,		10676	0.002		0.001	False		,,,				2504	0.001					ENST00000360844.6		NA																	2	Substitution - Missense(2)	p.V215M(2)	central_nervous_system(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29						c.(643-645)Gtg>Atg		sialic acid binding Ig-like lectin 14							85.0	81.0	82.0					19																	52149092		2071	4198	6269	SO:0001583	missense	100049587				cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding	g.chr19:52149092C>T	AY854038	CCDS42604.1	19q13.41	2013-01-29			ENSG00000254415	ENSG00000254415		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	32926	protein-coding gene	gene with protein product						17012248	Standard	NM_001098612		Approved		uc002pxf.4	Q08ET2	OTTHUMG00000165511	ENST00000360844.6:c.643G>A	19.37:g.52149092C>T	ENSP00000354090:p.Val215Met	False	False		Somatic	0				SIGLEC5_ENST00000429354.3_Intron|SIGLEC5_ENST00000599649.1_Intron|SIGLEC5_ENST00000222107.4_Intron	p.V215M	NM_001098612.1	NP_001092082.1	WXS	Illumina HiSeq	Phase_I	Q08ET2	SIG14_HUMAN		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)	3	684	-		all_neural(266;0.0299)	215			Ig-like C2-type 1.		Q6UXG0	Missense_Mutation	SNP	ENST00000360844.6	37	c.643G>A	CCDS42604.1	5	0.0022893772893772895	1	0.0020325203252032522	0	0.0	3	0.005244755244755245	1	0.0013192612137203166	C	16.24	3.066375	0.55539	.	.	ENSG00000254415	ENST00000360844	D	0.89810	-2.57	3.1	3.1	0.35709	Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.000000	0.41396	D	0.000886	D	0.90628	0.7061	M	0.85859	2.78	0.19775	N	0.999952	D	0.64830	0.994	P	0.60345	0.873	D	0.83788	0.0229	10	0.66056	D	0.02	.	9.82	0.40876	0.0:1.0:0.0:0.0	.	215	Q08ET2	SIG14_HUMAN	M	215	ENSP00000354090:V215M	ENSP00000354090:V215M	V	-	1	0	SIGLEC14	56840904	0.048000	0.20356	0.215000	0.23724	0.789000	0.44602	1.698000	0.37794	1.755000	0.51935	0.514000	0.50259	GTG		0.647	SIGLEC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466899.2	0	NM_001098612		19:52149092
ENTPD8	377841	broad.mit.edu	37	9	140331454	140331454	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr9:140331454T>C	ENST00000472938.1	-	4	438	c.422A>G	c.(421-423)gAc>gGc	p.D141G	ENTPD8_ENST00000344119.2_Missense_Mutation_p.D141G|ENTPD8_ENST00000371506.2_Missense_Mutation_p.D141G			Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8	141					nucleoside diphosphate biosynthetic process (GO:0009133)|nucleoside monophosphate biosynthetic process (GO:0009124)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		TGCAAAGATGTCCCTGGCCTG	0.682																																						ENST00000371506.2		NA																	0				biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7						c.(421-423)gAc>gGc		ectonucleoside triphosphate diphosphohydrolase 8							51.0	56.0	54.0					9																	140331454		2202	4298	6500	SO:0001583	missense	377841					integral to membrane|plasma membrane	ATP binding	g.chr9:140331454T>C	AY359088	CCDS7043.1, CCDS43913.1	9q34.3	2013-09-20			ENSG00000188833	ENSG00000188833			24860	protein-coding gene	gene with protein product	"""GLSR2492"""					12975309	Standard	NM_198585		Approved	UNQ2492, NTPDase-8	uc004cmw.3	Q5MY95	OTTHUMG00000131831	ENST00000472938.1:c.422A>G	9.37:g.140331454T>C	ENSP00000420531:p.Asp141Gly	True	False		Somatic	0				ENTPD8_ENST00000472938.1_Missense_Mutation_p.D141G|ENTPD8_ENST00000344119.2_Missense_Mutation_p.D141G	p.D141G	NM_001033113.1	NP_001028285.1	WXS	Illumina HiSeq	Phase_I	Q5MY95	ENTP8_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)	5	605	-	all_cancers(76;0.0926)		141					A2BG17|Q6UVZ0	Missense_Mutation	SNP	ENST00000472938.1	37	c.422A>G	CCDS43913.1	.	.	.	.	.	.	.	.	.	.	T	12.45	1.941896	0.34283	.	.	ENSG00000188833	ENST00000344119;ENST00000371506;ENST00000472938	T;T;T	0.12039	2.72;2.72;2.72	4.07	-2.28	0.06826	.	1.335750	0.04809	N	0.434870	T	0.11452	0.0279	L	0.49455	1.56	0.18873	N	0.999981	B;B	0.34399	0.452;0.005	B;B	0.29862	0.108;0.021	T	0.30650	-0.9971	10	0.38643	T	0.18	0.6553	4.5654	0.12184	0.0:0.2689:0.3092:0.4219	.	141;141	Q5MY95-2;Q5MY95	.;ENTP8_HUMAN	G	141	ENSP00000344089:D141G;ENSP00000360561:D141G;ENSP00000420531:D141G	ENSP00000344089:D141G	D	-	2	0	ENTPD8	139451275	0.000000	0.05858	0.033000	0.17914	0.596000	0.36781	0.070000	0.14573	-0.340000	0.08388	0.459000	0.35465	GAC		0.682	ENTPD8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355991.1	0	NM_198585		9:140331454
POU4F2	5458	broad.mit.edu	37	4	147561030	147561030	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr4:147561030C>A	ENST00000281321.3	+	2	548	c.300C>A	c.(298-300)ttC>ttA	p.F100L	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	100					axon extension (GO:0048675)|axon guidance (GO:0007411)|intracellular estrogen receptor signaling pathway (GO:0030520)|MAPK cascade (GO:0000165)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					GCAATATATTCGGCGGGCTGG	0.612																																						ENST00000281321.3		NA																	0				NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33						c.(298-300)ttC>ttA		POU class 4 homeobox 2							38.0	57.0	51.0					4																	147561030		2203	4300	6503	SO:0001583	missense	5458				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr4:147561030C>A	U06233	CCDS34074.1	4q31.22	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9219	protein-coding gene	gene with protein product		113725	"""POU domain, class 4, transcription factor 2"", ""POU domain class 4, transcription factor 2"""	BRN3B		8332509	Standard	NM_004575		Approved	Brn-3b	uc003ikv.3	Q12837		ENST00000281321.3:c.300C>A	4.37:g.147561030C>A	ENSP00000281321:p.Phe100Leu	False	False		Somatic	0					p.F100L	NM_004575.2	NP_004566.2	WXS	Illumina HiSeq	Phase_I	Q12837	PO4F2_HUMAN			2	548	+	all_hematologic(180;0.151)		100					B1PJR6|B2RC84|Q13883|Q14987	Missense_Mutation	SNP	ENST00000281321.3	37	c.300C>A	CCDS34074.1	.	.	.	.	.	.	.	.	.	.	C	18.59	3.656967	0.67586	.	.	ENSG00000151615	ENST00000281321	T	0.20881	2.04	5.9	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.39937	0.1097	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.19451	-1.0305	10	0.59425	D	0.04	.	10.1163	0.42593	0.0:0.8456:0.0:0.1544	.	100	Q12837	PO4F2_HUMAN	L	100	ENSP00000281321:F100L	ENSP00000281321:F100L	F	+	3	2	POU4F2	147780480	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.989000	0.40707	1.489000	0.48450	0.563000	0.77884	TTC		0.612	POU4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367020.1	0	NM_004575		4:147561030
GRM5	2915	broad.mit.edu	37	11	88780631	88780631	+	Missense_Mutation	SNP	A	A	G	rs72954992		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr11:88780631A>G	ENST00000305447.4	-	1	559	c.410T>C	c.(409-411)tTc>tCc	p.F137S	GRM5_ENST00000393294.3_Missense_Mutation_p.F137S|GRM5_ENST00000393297.1_Missense_Mutation_p.F137S|GRM5_ENST00000305432.5_Missense_Mutation_p.F137S|GRM5_ENST00000455756.2_Missense_Mutation_p.F137S|GRM5_ENST00000418177.2_Missense_Mutation_p.F137S	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	137					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	CTTGGAGCGGAAGGAAGAGGA	0.502																																						ENST00000418177.2		NA																	0				NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(409-411)tTc>tCc		glutamate receptor, metabotropic 5	Acamprosate(DB00659)																																			SO:0001583	missense	2915				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr11:88780631A>G	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.410T>C	11.37:g.88780631A>G	ENSP00000306138:p.Phe137Ser	True	False		Somatic	0				GRM5_ENST00000305432.5_Missense_Mutation_p.F137S|GRM5_ENST00000393294.3_Missense_Mutation_p.F137S|GRM5_ENST00000393297.1_Missense_Mutation_p.F137S|GRM5_ENST00000305447.4_Missense_Mutation_p.F137S|GRM5_ENST00000455756.2_Missense_Mutation_p.F137S	p.F137S			WXS	Illumina HiSeq	Phase_I	P41594	GRM5_HUMAN			2	777	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	137					Q6J164	Missense_Mutation	SNP	ENST00000305447.4	37	c.410T>C	CCDS44694.1	.	.	.	.	.	.	.	.	.	.	A	11.00	1.510476	0.27036	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297;ENST00000393294	D;D;D;D;D;D	0.86297	-2.1;-2.1;-2.1;-2.1;-2.1;-2.1	5.4	5.4	0.78164	Extracellular ligand-binding receptor (1);	0.141460	0.64402	D	0.000005	T	0.69753	0.3146	N	0.03608	-0.345	0.38027	D	0.935059	B;B;B	0.11235	0.004;0.001;0.002	B;B;B	0.11329	0.002;0.001;0.006	T	0.66775	-0.5838	9	.	.	.	.	9.8808	0.41231	0.9236:0.0:0.0764:0.0	.	137;137;137	A8MT20;P41594-2;P41594	.;.;GRM5_HUMAN	S	137	ENSP00000402912:F137S;ENSP00000405690:F137S;ENSP00000305905:F137S;ENSP00000306138:F137S;ENSP00000376975:F137S;ENSP00000376972:F137S	.	F	-	2	0	GRM5	88420279	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.086000	0.64474	2.033000	0.60031	0.460000	0.39030	TTC		0.502	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	0	NM_000842		11:88780631
NSDHL	50814	broad.mit.edu	37	X	152031181	152031181	+	Silent	SNP	C	C	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chrX:152031181C>T	ENST00000370274.3	+	5	650	c.456C>T	c.(454-456)ggC>ggT	p.G152G	NSDHL_ENST00000440023.1_Silent_p.G152G	NM_015922.2	NP_057006.1	Q15738	NSDHL_HUMAN	NAD(P) dependent steroid dehydrogenase-like	152					cholesterol biosynthetic process (GO:0006695)|hair follicle development (GO:0001942)|labyrinthine layer blood vessel development (GO:0060716)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity (GO:0047012)	p.G152G(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15	Acute lymphoblastic leukemia(192;6.56e-05)					TCTTTGAGGGCGTCGATATCA	0.413																																						ENST00000370274.3		NA																	1	Substitution - coding silent(1)	p.G152G(1)	endometrium(1)	NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15						c.(454-456)ggC>ggT		NAD(P) dependent steroid dehydrogenase-like	NADH(DB00157)						159.0	138.0	145.0					X																	152031181		2203	4300	6503	SO:0001819	synonymous_variant	50814				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity	g.chrX:152031181C>T	X96621	CCDS14717.1	Xq28	2011-09-14			ENSG00000147383	ENSG00000147383	1.1.1.170	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	13398	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 31E, member 1"""	300275				10710235, 12837764, 19027726	Standard	NM_015922		Approved	XAP104, H105e3, SDR31E1	uc004fgs.1	Q15738	OTTHUMG00000024185	ENST00000370274.3:c.456C>T	X.37:g.152031181C>T		True	False		Somatic	0				NSDHL_ENST00000440023.1_Silent_p.G152G	p.G152G	NM_015922.2	NP_057006.1	WXS	Illumina HiSeq	Phase_I	Q15738	NSDHL_HUMAN			5	650	+	Acute lymphoblastic leukemia(192;6.56e-05)		152					D3DWT6|O00344	Silent	SNP	ENST00000370274.3	37	c.456C>T	CCDS14717.1																																																																																				0.413	NSDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060927.1	0	NM_015922		X:152031181
KAT6A	7994	broad.mit.edu	37	8	41800505	41800505	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr8:41800505G>A	ENST00000396930.3	-	15	2785	c.2242C>T	c.(2242-2244)Cgc>Tgc	p.R748C	KAT6A_ENST00000406337.1_Missense_Mutation_p.R748C|KAT6A_ENST00000265713.2_Missense_Mutation_p.R748C|KAT6A_ENST00000485568.1_Missense_Mutation_p.R748C	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	748	Catalytic.|MYST-type HAT.|Mediates interaction with BRPF1, required for histone H3 acetyltransferase activity.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										TTTTCCCGGCGGATAATCACA	0.423																																						ENST00000396930.3		NA																	0					NA						c.(2242-2244)Cgc>Tgc		K(lysine) acetyltransferase 6A							79.0	76.0	77.0					8																	41800505		2203	4300	6503	SO:0001583	missense	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41800505G>A	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.2242C>T	8.37:g.41800505G>A	ENSP00000380136:p.Arg748Cys	False	False		Somatic	0				KAT6A_ENST00000265713.2_Missense_Mutation_p.R748C|KAT6A_ENST00000485568.1_Missense_Mutation_p.R748C|KAT6A_ENST00000406337.1_Missense_Mutation_p.R748C	p.R748C	NM_001099412.1	NP_001092882.1	WXS	Illumina HiSeq	Phase_I	Q92794	MYST3_HUMAN			15	2785	-			748			Catalytic.|Mediates interaction with BRPF1, required for histone H3 acetyltransferase activity.		Q76L81	Missense_Mutation	SNP	ENST00000396930.3	37	c.2242C>T	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.768196	0.49680	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930;ENST00000418721;ENST00000485568	T;T;T;D	0.84516	0.15;0.15;0.15;-1.86	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	D	0.89508	0.6735	L	0.35249	1.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.992;0.997	D	0.88927	0.3370	10	0.52906	T	0.07	-18.0878	20.5792	0.99380	0.0:0.0:1.0:0.0	.	748;748	A5PLL3;Q92794	.;KAT6A_HUMAN	C	748;748;748;328;748	ENSP00000265713:R748C;ENSP00000385888:R748C;ENSP00000380136:R748C;ENSP00000430606:R748C	ENSP00000265713:R748C	R	-	1	0	KAT6A	41919662	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.239000	0.72356	2.873000	0.98535	0.561000	0.74099	CGC		0.423	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	0	NM_006766		8:41800505
UBN1	29855	broad.mit.edu	37	16	4924840	4924840	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr16:4924840G>A	ENST00000396658.4	+	14	3132	c.2429G>A	c.(2428-2430)gGc>gAc	p.G810D	UBN1_ENST00000590769.1_Missense_Mutation_p.G810D|UBN1_ENST00000262376.6_Missense_Mutation_p.G810D|UBN1_ENST00000545171.1_Missense_Mutation_p.G810D	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	810					chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of phosphatase activity (GO:0010923)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						TTTCATGCCGGCACTCAGCAG	0.572																																						ENST00000396658.4		NA																	0				NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(2428-2430)gGc>gAc		ubinuclein 1							76.0	80.0	78.0					16																	4924840		2197	4300	6497	SO:0001583	missense	29855				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:4924840G>A	AF108460	CCDS10525.1, CCDS73822.1	16p13.3	2010-11-09			ENSG00000118900	ENSG00000118900			12506	protein-coding gene	gene with protein product		609771				10725330	Standard	XM_005255277		Approved		uc002cyb.3	Q9NPG3	OTTHUMG00000129531	ENST00000396658.4:c.2429G>A	16.37:g.4924840G>A	ENSP00000379894:p.Gly810Asp	False	False		Somatic	0				UBN1_ENST00000545171.1_Missense_Mutation_p.G810D|UBN1_ENST00000262376.6_Missense_Mutation_p.G810D|UBN1_ENST00000590769.1_Missense_Mutation_p.G810D	p.G810D	NM_016936.3	NP_058632.2	WXS	Illumina HiSeq	Phase_I	Q9NPG3	UBN1_HUMAN			14	3132	+			810					B7Z6D3|D3DUE8|Q13079|Q9P1P7	Missense_Mutation	SNP	ENST00000396658.4	37	c.2429G>A	CCDS10525.1	.	.	.	.	.	.	.	.	.	.	G	18.51	3.639246	0.67244	.	.	ENSG00000118900	ENST00000262376;ENST00000545171;ENST00000396658	T;T;T	0.32753	1.44;1.44;1.44	5.28	5.28	0.74379	.	0.072533	0.56097	D	0.000032	T	0.38188	0.1031	N	0.24115	0.695	0.19300	N	0.99998	D;D	0.63046	0.992;0.972	P;P	0.58660	0.74;0.843	T	0.20840	-1.0263	10	0.52906	T	0.07	-13.9626	17.2731	0.87107	0.0:0.0:1.0:0.0	.	810;810	Q9NPG3-2;Q9NPG3	.;UBN1_HUMAN	D	810	ENSP00000262376:G810D;ENSP00000442379:G810D;ENSP00000379894:G810D	ENSP00000262376:G810D	G	+	2	0	UBN1	4864841	0.988000	0.35896	0.981000	0.43875	0.776000	0.43924	4.750000	0.62162	2.758000	0.94735	0.563000	0.77884	GGC		0.572	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251719.1	0	NM_016936		16:4924840
GRM5	2915	broad.mit.edu	37	11	88780514	88780514	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr11:88780514C>A	ENST00000305447.4	-	1	676	c.527G>T	c.(526-528)aGc>aTc	p.S176I	GRM5_ENST00000393294.3_Missense_Mutation_p.S176I|GRM5_ENST00000393297.1_Missense_Mutation_p.S176I|GRM5_ENST00000305432.5_Missense_Mutation_p.S176I|GRM5_ENST00000455756.2_Missense_Mutation_p.S176I|GRM5_ENST00000418177.2_Missense_Mutation_p.S176I	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	176					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	CAGATCCATGCTGGTTGCTGA	0.483																																						ENST00000418177.2		NA																	0				NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(526-528)aGc>aTc		glutamate receptor, metabotropic 5	Acamprosate(DB00659)						78.0	67.0	70.0					11																	88780514		2201	4299	6500	SO:0001583	missense	2915				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr11:88780514C>A	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.527G>T	11.37:g.88780514C>A	ENSP00000306138:p.Ser176Ile	False	False		Somatic	0				GRM5_ENST00000305432.5_Missense_Mutation_p.S176I|GRM5_ENST00000393294.3_Missense_Mutation_p.S176I|GRM5_ENST00000393297.1_Missense_Mutation_p.S176I|GRM5_ENST00000305447.4_Missense_Mutation_p.S176I|GRM5_ENST00000455756.2_Missense_Mutation_p.S176I	p.S176I			WXS	Illumina HiSeq	Phase_I	P41594	GRM5_HUMAN			2	894	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	176					Q6J164	Missense_Mutation	SNP	ENST00000305447.4	37	c.527G>T	CCDS44694.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.1|23.1	4.368843|4.368843	0.82463|0.82463	.|.	.|.	ENSG00000168959|ENSG00000168959	ENST00000449371|ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297;ENST00000393294	.|D;D;D;D;D;D	.|0.88818	.|-2.43;-2.43;-2.43;-2.43;-2.43;-2.43	5.4|5.4	5.4|5.4	0.78164|0.78164	.|GPCR, family 3, conserved site (1);Extracellular ligand-binding receptor (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.95169|0.95169	0.8434|0.8434	M|M	0.86028|0.86028	2.79|2.79	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|0.999;0.996;1.0	D|D	0.95135|0.95135	0.8258|0.8258	5|9	.|.	.|.	.|.	.|.	19.1788|19.1788	0.93614|0.93614	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|176;176;176	.|A8MT20;P41594-2;P41594	.|.;.;GRM5_HUMAN	S|I	9|176	.|ENSP00000402912:S176I;ENSP00000405690:S176I;ENSP00000305905:S176I;ENSP00000306138:S176I;ENSP00000376975:S176I;ENSP00000376972:S176I	.|.	A|S	-|-	1|2	0|0	GRM5|GRM5	88420162|88420162	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.687000|7.687000	0.84139|0.84139	2.514000|2.514000	0.84764|0.84764	0.563000|0.563000	0.77884|0.77884	GCA|AGC		0.483	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	0	NM_000842		11:88780514
TNRC6C	57690	broad.mit.edu	37	17	76046827	76046827	+	Missense_Mutation	SNP	G	G	A	rs200217894		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr17:76046827G>A	ENST00000588061.1	+	5	2411	c.1684G>A	c.(1684-1686)Gca>Aca	p.A562T	TNRC6C_ENST00000588847.1_Missense_Mutation_p.A562T|TNRC6C_ENST00000541771.1_Missense_Mutation_p.A562T|TNRC6C_ENST00000301624.4_Missense_Mutation_p.A562T|TNRC6C_ENST00000335749.4_Missense_Mutation_p.A562T|TNRC6C_ENST00000544502.1_Missense_Mutation_p.A562T			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	562	Sufficient for interaction with argonaute family proteins.				embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GAGTGGGGCCGCAAATCAGGA	0.582													G|||	1	0.000199681	0.0	0.0	5008	,	,		17135	0.0		0.0	False		,,,				2504	0.001					ENST00000335749.4		NA																	0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40						c.(1684-1686)Gca>Aca		trinucleotide repeat containing 6C		G	THR/ALA,THR/ALA	0,4056		0,0,2028	53.0	59.0	57.0		1684,1684	3.8	0.6	17		57	1,8375		0,1,4187	no	missense,missense	TNRC6C	NM_001142640.1,NM_018996.3	58,58	0,1,6215	AA,AG,GG		0.0119,0.0,0.0080	benign,benign	562/1727,562/1691	76046827	1,12431	2028	4188	6216	SO:0001583	missense	57690				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding	g.chr17:76046827G>A	AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"""Trinucleotide (CAG) repeat containing"""	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.1684G>A	17.37:g.76046827G>A	ENSP00000468647:p.Ala562Thr	False	False		Somatic	0				TNRC6C_ENST00000588847.1_Missense_Mutation_p.A562T|TNRC6C_ENST00000588061.1_Missense_Mutation_p.A562T|TNRC6C_ENST00000301624.4_Missense_Mutation_p.A562T|TNRC6C_ENST00000541771.1_Missense_Mutation_p.A562T|TNRC6C_ENST00000544502.1_Missense_Mutation_p.A562T	p.A562T	NM_001142640.1	NP_001136112.1	WXS	Illumina HiSeq	Phase_I	Q9HCJ0	TNR6C_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		3	2253	+			562			Sufficient for interaction with argonaute family proteins.		G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Missense_Mutation	SNP	ENST00000588061.1	37	c.1684G>A	CCDS45798.1	.	.	.	.	.	.	.	.	.	.	G	6.103	0.387346	0.11581	0.0	1.19E-4	ENSG00000078687	ENST00000455761;ENST00000395801;ENST00000335749;ENST00000301624;ENST00000541771;ENST00000544502	T;T;T;T	0.14516	2.5;2.51;2.51;2.5	5.75	3.79	0.43588	.	0.922167	0.09205	N	0.834117	T	0.10680	0.0261	L	0.29908	0.895	0.26878	N	0.9676	B;B;B	0.13145	0.005;0.007;0.004	B;B;B	0.08055	0.002;0.003;0.001	T	0.38286	-0.9668	10	0.13108	T	0.6	0.8073	10.4778	0.44676	0.2076:0.0:0.7924:0.0	.	562;562;562	G3XAB8;Q9HCJ0-2;Q9HCJ0	.;.;TNR6C_HUMAN	T	562	ENSP00000336783:A562T;ENSP00000301624:A562T;ENSP00000440310:A562T;ENSP00000442421:A562T	ENSP00000301624:A562T	A	+	1	0	TNRC6C	73558422	0.864000	0.29904	0.557000	0.28306	0.995000	0.86356	3.175000	0.50855	0.800000	0.34041	0.655000	0.94253	GCA		0.582	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395947.1	0	NM_018996		17:76046827
CTSG	1511	broad.mit.edu	37	14	25043976	25043976	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr14:25043976G>A	ENST00000216336.2	-	3	280	c.244C>T	c.(244-246)Cgg>Tgg	p.R82W		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	82	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|defense response to fungus (GO:0050832)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|negative regulation of growth of symbiont in host (GO:0044130)|neutrophil mediated killing of gram-positive bacterium (GO:0070946)|positive regulation of immune response (GO:0050778)|proteolysis (GO:0006508)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	heparin binding (GO:0008201)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		GTGTTTTCCCGTCTCTGGATA	0.532																																						ENST00000216336.2		NA																	0				autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25						c.(244-246)Cgg>Tgg		cathepsin G							179.0	150.0	159.0					14																	25043976		2203	4300	6503	SO:0001583	missense	1511				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity	g.chr14:25043976G>A	M16117	CCDS9631.1	14q12	2013-02-25			ENSG00000100448	ENSG00000100448		"""Cathepsins"", ""Endogenous ligands"""	2532	protein-coding gene	gene with protein product		116830				2569462	Standard	NM_001911		Approved	CG	uc001wpq.3	P08311	OTTHUMG00000140182	ENST00000216336.2:c.244C>T	14.37:g.25043976G>A	ENSP00000216336:p.Arg82Trp	True	False		Somatic	0					p.R82W	NM_001911.2	NP_001902.1	WXS	Illumina HiSeq	Phase_I	P08311	CATG_HUMAN		GBM - Glioblastoma multiforme(265;0.0269)	3	280	-			82			Peptidase S1.		Q6IBJ6|Q9UCA5|Q9UCU6	Missense_Mutation	SNP	ENST00000216336.2	37	c.244C>T	CCDS9631.1	.	.	.	.	.	.	.	.	.	.	G	17.18	3.323852	0.60634	.	.	ENSG00000100448	ENST00000216336	D	0.89270	-2.49	5.14	-0.234	0.13074	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	2.162600	0.03040	N	0.153196	D	0.90082	0.6902	L	0.42686	1.345	0.09310	N	1	D	0.53462	0.96	P	0.57324	0.818	T	0.77091	-0.2716	10	0.72032	D	0.01	.	6.4544	0.21922	0.1768:0.4321:0.3911:0.0	.	82	P08311	CATG_HUMAN	W	82	ENSP00000216336:R82W	ENSP00000216336:R82W	R	-	1	2	CTSG	24113816	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.555000	0.05999	-0.140000	0.11394	0.655000	0.94253	CGG		0.532	CTSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276536.2	0	NM_001911		14:25043976
HERC2	8924	broad.mit.edu	37	15	28370291	28370291	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr15:28370291C>T	ENST00000261609.7	-	84	12959	c.12851G>A	c.(12850-12852)gGa>gAa	p.G4284E		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ATTGGTGGTTCCGTCTCCCAG	0.532																																						ENST00000261609.7		NA																	0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(12850-12852)gGa>gAa		HECT and RLD domain containing E3 ubiquitin protein ligase 2							234.0	211.0	219.0					15																	28370291		2203	4300	6503	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28370291C>T	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.12851G>A	15.37:g.28370291C>T	ENSP00000261609:p.Gly4284Glu	False	False		Somatic	0					p.G4284E	NM_004667.5	NP_004658.3	WXS	Illumina HiSeq	Phase_I	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	84	12959	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	4284						Missense_Mutation	SNP	ENST00000261609.7	37	c.12851G>A	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	32	5.116754	0.94385	.	.	ENSG00000128731	ENST00000261609	D	0.84589	-1.87	5.19	5.19	0.71726	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.93307	0.7867	M	0.85859	2.78	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94249	0.7492	10	0.87932	D	0	.	18.7201	0.91689	0.0:1.0:0.0:0.0	.	4284	O95714	HERC2_HUMAN	E	4284	ENSP00000261609:G4284E	ENSP00000261609:G4284E	G	-	2	0	HERC2	26043886	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.808000	0.86044	2.408000	0.81797	0.655000	0.94253	GGA		0.532	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	0	NM_004667		15:28370291
LDHC	3948	broad.mit.edu	37	11	18467784	18467784	+	Silent	SNP	G	G	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr11:18467784G>T	ENST00000541669.1	+	7	849	c.738G>T	c.(736-738)ggG>ggT	p.G246G	LDHC_ENST00000537486.1_Intron|LDHC_ENST00000535809.1_Intron|LDHC_ENST00000544105.1_Intron|LDHC_ENST00000280704.4_Silent_p.G246G|LDHC_ENST00000536880.1_Silent_p.G232G|LDHC_ENST00000546146.1_Intron			P07864	LDHC_HUMAN	lactate dehydrogenase C	246					ATP biosynthetic process (GO:0006754)|cellular carbohydrate metabolic process (GO:0044262)|lactate biosynthetic process from pyruvate (GO:0019244)|lactate oxidation (GO:0019516)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|motile cilium (GO:0031514)|nucleus (GO:0005634)	L-lactate dehydrogenase activity (GO:0004459)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGCTGAAGGGGTATACCTCTT	0.378																																						ENST00000541669.1		NA																	0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(736-738)ggG>ggT		lactate dehydrogenase C	NADH(DB00157)						178.0	176.0	177.0					11																	18467784		2199	4293	6492	SO:0001819	synonymous_variant	3948				glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity	g.chr11:18467784G>T	AY286300	CCDS7840.1	11p15.1	2012-10-02			ENSG00000166796	ENSG00000166796	1.1.1.27		6544	protein-coding gene	gene with protein product	"""cancer/testis antigen 32"""	150150					Standard	NM_002301		Approved	CT32	uc001mom.4	P07864	OTTHUMG00000167722	ENST00000541669.1:c.738G>T	11.37:g.18467784G>T		True	False		Somatic	0				LDHC_ENST00000536880.1_Silent_p.G232G|LDHC_ENST00000280704.4_Silent_p.G246G|LDHC_ENST00000546146.1_Intron|LDHC_ENST00000535809.1_Intron|LDHC_ENST00000537486.1_Intron|LDHC_ENST00000544105.1_Intron	p.G246G			WXS	Illumina HiSeq	Phase_I	P07864	LDHC_HUMAN			7	849	+			246					D3DQY4|Q6GSG8|Q7Z7J4	Silent	SNP	ENST00000541669.1	37	c.738G>T	CCDS7840.1																																																																																				0.378	LDHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395892.1	0	NM_017448		11:18467784
LPHN3	23284	broad.mit.edu	37	4	62812695	62812695	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr4:62812695C>T	ENST00000514591.1	+	15	2608	c.2279C>T	c.(2278-2280)gCc>gTc	p.A760V	LPHN3_ENST00000514996.1_Missense_Mutation_p.A760V|LPHN3_ENST00000511324.1_Missense_Mutation_p.A828V|LPHN3_ENST00000508946.1_Missense_Mutation_p.A760V|LPHN3_ENST00000504896.1_Missense_Mutation_p.A760V|LPHN3_ENST00000506720.1_Missense_Mutation_p.A828V|LPHN3_ENST00000512091.2_Missense_Mutation_p.A760V|LPHN3_ENST00000507625.1_Missense_Mutation_p.A828V|LPHN3_ENST00000514157.1_Missense_Mutation_p.A760V|LPHN3_ENST00000506746.1_Missense_Mutation_p.A828V|LPHN3_ENST00000507164.1_Missense_Mutation_p.A828V|LPHN3_ENST00000508693.1_Missense_Mutation_p.A828V|LPHN3_ENST00000506700.1_Missense_Mutation_p.A760V|LPHN3_ENST00000509896.1_Missense_Mutation_p.A828V|LPHN3_ENST00000545650.1_Missense_Mutation_p.A760V|LPHN3_ENST00000508078.1_3'UTR			Q9HAR2	LPHN3_HUMAN	latrophilin 3	747					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)	p.A760V(3)|p.A760G(1)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						ACGGAGAATGCCAGTATGAAG	0.403																																						ENST00000512091.2		NA																	4	Substitution - Missense(4)	p.A760V(3)|p.A760G(1)	prostate(3)|lung(1)	breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						c.(2278-2280)gCc>gTc		latrophilin 3							261.0	245.0	250.0					4																	62812695		1885	4119	6004	SO:0001583	missense	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62812695C>T	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.2279C>T	4.37:g.62812695C>T	ENSP00000422533:p.Ala760Val	False	False		Somatic	0				LPHN3_ENST00000508946.1_Missense_Mutation_p.A760V|LPHN3_ENST00000508693.1_Missense_Mutation_p.A828V|LPHN3_ENST00000514157.1_Missense_Mutation_p.A760V|LPHN3_ENST00000514996.1_Missense_Mutation_p.A760V|LPHN3_ENST00000545650.1_Missense_Mutation_p.A760V|LPHN3_ENST00000506746.1_Missense_Mutation_p.A828V|LPHN3_ENST00000514591.1_Missense_Mutation_p.A760V|LPHN3_ENST00000509896.1_Missense_Mutation_p.A828V|LPHN3_ENST00000507625.1_Missense_Mutation_p.A828V|LPHN3_ENST00000511324.1_Missense_Mutation_p.A828V|LPHN3_ENST00000506720.1_Missense_Mutation_p.A828V|LPHN3_ENST00000507164.1_Missense_Mutation_p.A828V|LPHN3_ENST00000506700.1_Missense_Mutation_p.A760V|LPHN3_ENST00000504896.1_Missense_Mutation_p.A760V|LPHN3_ENST00000508078.1_3'UTR	p.A760V			WXS	Illumina HiSeq	Phase_I	Q9HAR2	LPHN3_HUMAN			15	3026	+			NA					E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	c.2279C>T	CCDS54768.1	.	.	.	.	.	.	.	.	.	.	C	34	5.409129	0.96072	.	.	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.11712	2.75;2.75;2.75;2.75;2.75;2.75;2.75;2.75;2.75;2.75;2.75;2.75;2.75;2.75;2.75	5.51	5.51	0.81932	Domain of unknown function DUF3497 (1);	0.000000	0.85682	D	0.000000	T	0.30603	0.0770	M	0.65975	2.015	0.80722	D	1	D;D;D	0.56746	0.977;0.977;0.972	P;P;P	0.59703	0.862;0.862;0.616	T	0.00849	-1.1541	10	0.66056	D	0.02	.	19.4278	0.94751	0.0:1.0:0.0:0.0	.	760;747;760	E9PE04;Q9HAR2;Q9HAR2-2	.;LPHN3_HUMAN;.	V	760;760;828;828;760;760;747;760;828;828;828;760;760;760;828;828;760	ENSP00000423388:A760V;ENSP00000422533:A760V;ENSP00000423787:A828V;ENSP00000425033:A828V;ENSP00000424120:A760V;ENSP00000439831:A760V;ENSP00000421476:A828V;ENSP00000424030:A828V;ENSP00000421372:A828V;ENSP00000425201:A760V;ENSP00000423434:A760V;ENSP00000421627:A760V;ENSP00000420931:A828V;ENSP00000425884:A828V;ENSP00000424258:A760V	ENSP00000280009:A760V	A	+	2	0	LPHN3	62495290	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.595000	0.87683	0.557000	0.71058	GCC		0.403	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1	0			4:62812695
TGM5	9333	broad.mit.edu	37	15	43527883	43527883	+	Nonsense_Mutation	SNP	G	G	A	rs144532387		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr15:43527883G>A	ENST00000220420.5	-	10	1505	c.1498C>T	c.(1498-1500)Cga>Tga	p.R500*	TGM5_ENST00000349114.4_Nonsense_Mutation_p.R418*	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	500					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	TCACTGGGTCGAAGGGAAGGT	0.562													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21348	0.0		0.0	False		,,,				2504	0.0					ENST00000220420.5		NA																	0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44						c.(1498-1500)Cga>Tga		transglutaminase 5	L-Glutamine(DB00130)	G	stop/ARG,stop/ARG	1,4405	2.1+/-5.4	0,1,2202	117.0	103.0	108.0		1252,1498	5.6	0.0	15	dbSNP_134	108	1,8597	1.2+/-3.3	0,1,4298	yes	stop-gained,stop-gained	TGM5	NM_004245.3,NM_201631.3	,	0,2,6500	AA,AG,GG		0.0116,0.0227,0.0154	,	418/639,500/721	43527883	2,13002	2203	4299	6502	SO:0001587	stop_gained	9333				epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr15:43527883G>A	AF035960	CCDS32211.1, CCDS32212.1	15q15	2004-07-07				ENSG00000104055		"""Transglutaminases"""	11781	protein-coding gene	gene with protein product		603805				9452468, 11390390	Standard	NM_201631		Approved	TGX	uc001zrd.2	O43548		ENST00000220420.5:c.1498C>T	15.37:g.43527883G>A	ENSP00000220420:p.Arg500*	True	False		Somatic	0				TGM5_ENST00000349114.4_Nonsense_Mutation_p.R418*	p.R500*	NM_201631.3	NP_963925.2	WXS	Illumina HiSeq	Phase_I	O43548	TGM5_HUMAN		GBM - Glioblastoma multiforme(94;4e-07)	10	1505	-		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)	500					O43549|Q0VF40|Q9UEZ4	Nonsense_Mutation	SNP	ENST00000220420.5	37	c.1498C>T	CCDS32212.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.771567	0.90108	2.27E-4	1.16E-4	ENSG00000104055	ENST00000220420;ENST00000349114;ENST00000396996	.	.	.	5.58	5.58	0.84498	.	1.990680	0.02559	N	0.096485	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	-0.2829	15.0606	0.71951	0.0:0.0:1.0:0.0	.	.	.	.	X	500;418;499	.	ENSP00000220420:R500X	R	-	1	2	TGM5	41315175	0.001000	0.12720	0.032000	0.17829	0.207000	0.24258	0.862000	0.27899	2.631000	0.89168	0.655000	0.94253	CGA		0.562	TGM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432257.1	0	NM_004245		15:43527883
TCEAL3	85012	broad.mit.edu	37	X	102864204	102864204	+	Missense_Mutation	SNP	G	G	A	rs374490781		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chrX:102864204G>A	ENST00000372628.1	+	3	570	c.212G>A	c.(211-213)aGg>aAg	p.R71K	TCEAL3_ENST00000372627.5_Missense_Mutation_p.R71K|TCEAL3_ENST00000243286.3_Missense_Mutation_p.R71K|TCEAL3_ENST00000477014.1_Intron			Q969E4	TCAL3_HUMAN	transcription elongation factor A (SII)-like 3	71	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.R71K(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	16						AAGCAGGGCAGGTCCGAAGGT	0.622																																						ENST00000372628.1		NA																	1	Substitution - Missense(1)	p.R71K(1)	large_intestine(1)	endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	16						c.(211-213)aGg>aAg		transcription elongation factor A (SII)-like 3							145.0	115.0	125.0					X																	102864204		2203	4300	6503	SO:0001583	missense	85012				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:102864204G>A	BC008703	CCDS14511.1	Xq22.2	2014-03-21			ENSG00000196507	ENSG00000196507			28247	protein-coding gene	gene with protein product						16221301	Standard	NM_032926		Approved	MGC15737, WEX8	uc004ekr.3	Q969E4	OTTHUMG00000022106	ENST00000372628.1:c.212G>A	X.37:g.102864204G>A	ENSP00000361711:p.Arg71Lys	True	False		Somatic	0				TCEAL3_ENST00000243286.3_Missense_Mutation_p.R71K|TCEAL3_ENST00000477014.1_Intron|TCEAL3_ENST00000372627.5_Missense_Mutation_p.R71K	p.R71K			WXS	Illumina HiSeq	Phase_I	Q969E4	TCAL3_HUMAN			3	570	+			71			Glu-rich.		D3DXA4	Missense_Mutation	SNP	ENST00000372628.1	37	c.212G>A	CCDS14511.1	.	.	.	.	.	.	.	.	.	.	G	0.539	-0.854668	0.02630	.	.	ENSG00000196507	ENST00000372628;ENST00000372627;ENST00000243286	T;T;T	0.15834	2.39;2.39;2.39	3.81	2.63	0.31362	.	0.639125	0.12947	N	0.426153	T	0.02380	0.0073	N	0.00094	-2.165	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41197	-0.9522	10	0.02654	T	1	.	5.1568	0.15038	0.8655:0.0:0.1345:0.0	.	71	Q969E4	TCAL3_HUMAN	K	71	ENSP00000361711:R71K;ENSP00000361710:R71K;ENSP00000243286:R71K	ENSP00000243286:R71K	R	+	2	0	TCEAL3	102750860	0.801000	0.28930	0.066000	0.19879	0.005000	0.04900	1.150000	0.31639	0.659000	0.30945	-0.383000	0.06682	AGG		0.622	TCEAL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057737.1	0	NM_032926		X:102864204
RNF123	63891	broad.mit.edu	37	3	49724639	49724639	+	5'Flank	SNP	A	A	G	rs41291704		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr3:49724639A>G	ENST00000327697.6	+	0	0				MST1_ENST00000383728.3_Missense_Mutation_p.Y109H|AC099668.5_ENST00000563780.1_RNA|RNF123_ENST00000432042.1_5'Flank|MST1_ENST00000494828.2_5'UTR|MST1_ENST00000449682.2_Missense_Mutation_p.Y184H|MST1_ENST00000545762.1_Silent_p.A131A	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123						protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		TCTGTTGTGTAGCACCAAGGA	0.627																																						ENST00000449682.2		NA																	0				NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41						c.(550-552)Tac>Cac		macrophage stimulating 1 (hepatocyte growth factor-like)							37.0	38.0	38.0					3																	49724639		2202	4300	6502	SO:0001631	upstream_gene_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49724639A>G	AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"""RING-type (C3HC4) zinc fingers"""	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891		3.37:g.49724639A>G	Exception_encountered	False	False		Somatic	0				MST1_ENST00000494828.2_5'UTR|MST1_ENST00000383728.3_Missense_Mutation_p.Y109H|MST1_ENST00000545762.1_Silent_p.A131A	p.Y184H	NM_020998.3	NP_066278.3	WXS	Illumina HiSeq	Phase_I	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	5	911	-			170			Kringle 1.		A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Missense_Mutation	SNP	ENST00000327697.6	37	c.550T>C	CCDS33758.1	.	.	.	.	.	.	.	.	.	.	A	28.4	4.916533	0.92249	.	.	ENSG00000173531	ENST00000449682;ENST00000383728	T;T	0.73681	-0.77;-0.77	6.08	6.08	0.98989	Kringle (4);Kringle-like fold (1);	0.000000	0.38436	N	0.001682	D	0.87047	0.6080	M	0.81341	2.54	0.80722	D	1	D;P;P	0.89917	1.0;0.926;0.667	D;P;P	0.97110	1.0;0.852;0.66	D	0.88267	0.2927	10	0.66056	D	0.02	.	16.6512	0.85203	1.0:0.0:0.0:0.0	rs41291704	170;170;184	B7Z538;P26927;G3XAK1	.;HGFL_HUMAN;.	H	184;109	ENSP00000414287:Y184H;ENSP00000373234:Y109H	ENSP00000373234:Y109H	Y	-	1	0	MST1	49699643	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	9.332000	0.96446	2.333000	0.79357	0.482000	0.46254	TAC		0.627	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	0	NM_022064		3:49724639
COPS4	51138	broad.mit.edu	37	4	83978424	83978424	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr4:83978424G>A	ENST00000264389.2	+	6	713	c.578G>A	c.(577-579)cGt>cAt	p.R193H	COPS4_ENST00000503682.1_Missense_Mutation_p.R193H|COPS4_ENST00000509093.1_Missense_Mutation_p.R193H|COPS4_ENST00000511653.1_Missense_Mutation_p.R193H	NM_016129.2	NP_057213.2	Q9BT78	CSN4_HUMAN	COP9 signalosome subunit 4	193					cullin deneddylation (GO:0010388)|protein deneddylation (GO:0000338)	cell junction (GO:0030054)|COP9 signalosome (GO:0008180)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)				endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(2)	13		Hepatocellular(203;0.114)				TGCTATGCACGTGTTCTTGAT	0.338																																						ENST00000509093.1		NA																	0				endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(2)	13						c.(577-579)cGt>cAt		COP9 signalosome subunit 4							69.0	67.0	68.0					4																	83978424		2203	4300	6503	SO:0001583	missense	51138				cullin deneddylation	cytoplasm|signalosome	protein binding	g.chr4:83978424G>A	AF100757	CCDS3600.1, CCDS58909.1	4q21.22	2013-03-14	2013-03-14		ENSG00000138663	ENSG00000138663			16702	protein-coding gene	gene with protein product			"""COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 4"", ""COP9 constitutive photomorphogenic homolog subunit 4 (Arabidopsis)"""			9707402	Standard	NM_016129		Approved	CSN4	uc003hoa.3	Q9BT78	OTTHUMG00000130298	ENST00000264389.2:c.578G>A	4.37:g.83978424G>A	ENSP00000264389:p.Arg193His	False	False		Somatic	0				COPS4_ENST00000511653.1_Missense_Mutation_p.R193H|COPS4_ENST00000264389.2_Missense_Mutation_p.R193H|COPS4_ENST00000503682.1_Missense_Mutation_p.R193H	p.R193H	NM_001258006.1	NP_001244935.1	WXS	Illumina HiSeq	Phase_I	Q9BT78	CSN4_HUMAN			6	1356	+		Hepatocellular(203;0.114)	193					B3KN88|B3KST5|Q561W7|Q9NW31|Q9Y677	Missense_Mutation	SNP	ENST00000264389.2	37	c.578G>A	CCDS3600.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.672433	0.88348	.	.	ENSG00000138663	ENST00000509093;ENST00000264389;ENST00000509317;ENST00000503682;ENST00000511653	T;T;T;T;T	0.57107	0.47;0.59;0.65;0.42;0.55	5.57	4.73	0.59995	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.74520	0.3727	M	0.86028	2.79	0.80722	D	1	D;D;D;D	0.89917	1.0;0.994;1.0;1.0	D;P;D;D	0.79784	0.991;0.721;0.981;0.993	T	0.79200	-0.1901	10	0.66056	D	0.02	-7.0725	14.2998	0.66339	0.0714:0.0:0.9286:0.0	.	193;193;193;193	B3KST5;D6RFN0;D6RAX7;Q9BT78	.;.;.;CSN4_HUMAN	H	193;193;81;193;193	ENSP00000425976:R193H;ENSP00000264389:R193H;ENSP00000425486:R81H;ENSP00000424791:R193H;ENSP00000424655:R193H	ENSP00000264389:R193H	R	+	2	0	COPS4	84197448	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.370000	0.97159	1.355000	0.45865	0.467000	0.42956	CGT		0.338	COPS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252643.1	0			4:83978424
CCR3	1232	broad.mit.edu	37	3	46307531	46307531	+	Silent	SNP	C	C	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr3:46307531C>T	ENST00000357422.2	+	4	1425	c.882C>T	c.(880-882)tgC>tgT	p.C294C	CCR3_ENST00000545097.1_Silent_p.C315C|CCR3_ENST00000395942.2_Silent_p.C294C|CCR3_ENST00000395940.2_Silent_p.C294C|CCR3_ENST00000541018.1_Silent_p.C294C			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	294					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell proliferation (GO:0001938)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		ACTCCCACTGCTGCATGAACC	0.527																																						ENST00000357422.2		NA																	0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18						c.(880-882)tgC>tgT		chemokine (C-C motif) receptor 3							120.0	100.0	107.0					3																	46307531		2203	4300	6503	SO:0001819	synonymous_variant	1232				cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane		g.chr3:46307531C>T	AF247361	CCDS2738.1, CCDS54574.1	3p21.3	2012-08-08			ENSG00000183625	ENSG00000183625		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1604	protein-coding gene	gene with protein product		601268		CMKBR3			Standard	NM_178328		Approved	CC-CKR-3, CKR3, CD193	uc003cpk.2	P51677	OTTHUMG00000133484	ENST00000357422.2:c.882C>T	3.37:g.46307531C>T		False	False		Somatic	0				CCR3_ENST00000541018.1_Silent_p.C294C|CCR3_ENST00000395940.2_Silent_p.C294C|CCR3_ENST00000395942.2_Silent_p.C294C|CCR3_ENST00000545097.1_Silent_p.C315C	p.C294C			WXS	Illumina HiSeq	Phase_I	P51677	CCR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)	4	1425	+			294					B3KVQ1|F5GWL6|Q15748|Q2YDB9|Q86WD2|Q8TDP6|Q9ULY8	Silent	SNP	ENST00000357422.2	37	c.882C>T	CCDS2738.1																																																																																				0.527	CCR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257380.2	0			3:46307531
STXBP5	134957	broad.mit.edu	37	6	147703993	147703993	+	Silent	SNP	A	A	G			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr6:147703993A>G	ENST00000321680.6	+	27	3273	c.3273A>G	c.(3271-3273)aaA>aaG	p.K1091K	STXBP5_ENST00000367481.3_Silent_p.K1055K|STXBP5_ENST00000367480.3_Silent_p.K1038K|STXBP5_ENST00000179882.6_Silent_p.K746K	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	1091	v-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00290}.				exocytosis (GO:0006887)|negative regulation of exocytosis (GO:0045920)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|synapse (GO:0045202)	syntaxin-1 binding (GO:0017075)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		AAGGCGTAAAAGGGGCAGCAT	0.502																																						ENST00000367481.3		NA																	0				breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42						c.(3163-3165)aaA>aaG		syntaxin binding protein 5 (tomosyn)							156.0	151.0	153.0					6																	147703993		2203	4300	6503	SO:0001819	synonymous_variant	0				exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding	g.chr6:147703993A>G	AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506		"""WD repeat domain containing"""	19665	protein-coding gene	gene with protein product		604586				9620695, 14767561	Standard	NM_139244		Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000321680.6:c.3273A>G	6.37:g.147703993A>G		True	False		Somatic	0				STXBP5_ENST00000321680.6_Silent_p.K1091K|STXBP5_ENST00000367480.3_Silent_p.K1038K|STXBP5_ENST00000179882.6_Silent_p.K746K	p.K1055K	NM_139244.4	NP_640337.3	WXS	Illumina HiSeq	Phase_I	Q5T5C0	STXB5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)	25	3273	+		Ovarian(120;0.0164)	1091					Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Silent	SNP	ENST00000321680.6	37	c.3165A>G	CCDS47499.1																																																																																				0.502	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042606.1	0			6:147703993
DNAH5	1767	broad.mit.edu	37	5	13793653	13793653	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr5:13793653G>T	ENST00000265104.4	-	49	8299	c.8195C>A	c.(8194-8196)cCc>cAc	p.P2732H		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2732	AAA 3. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGCTTCAGAGGGCAACGTGCA	0.468									Kartagener syndrome																													ENST00000265104.4		NA																	0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(8194-8196)cCc>cAc		dynein, axonemal, heavy chain 5							132.0	135.0	134.0					5																	13793653		2203	4300	6503	SO:0001583	missense	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13793653G>T	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.8195C>A	5.37:g.13793653G>T	ENSP00000265104:p.Pro2732His	True	False		Somatic	0					p.P2732H	NM_001369.2	NP_001360.1	WXS	Illumina HiSeq	Phase_I	Q8TE73	DYH5_HUMAN			49	8299	-	Lung NSC(4;0.00476)		2732			AAA 3 (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.8195C>A	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.075499	0.76415	.	.	ENSG00000039139	ENST00000265104	T	0.53857	0.6	5.88	5.88	0.94601	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.86075	0.5846	H	0.99582	4.64	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91639	0.5325	10	0.87932	D	0	.	20.2366	0.98359	0.0:0.0:1.0:0.0	.	2732	Q8TE73	DYH5_HUMAN	H	2732	ENSP00000265104:P2732H	ENSP00000265104:P2732H	P	-	2	0	DNAH5	13846653	1.000000	0.71417	0.981000	0.43875	0.472000	0.32918	9.694000	0.98686	2.792000	0.96026	0.557000	0.71058	CCC		0.468	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	0	NM_001369		5:13793653
RHOA	387	broad.mit.edu	37	3	49405942	49405942	+	Missense_Mutation	SNP	A	A	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr3:49405942A>T	ENST00000418115.1	-	3	580	c.196T>A	c.(196-198)Tat>Aat	p.Y66N	RHOA-IT1_ENST00000428083.1_RNA|RHOA_ENST00000454011.2_Intron|RHOA_ENST00000422781.1_Missense_Mutation_p.Y66N	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A	66					actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|apical junction assembly (GO:0043297)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cerebral cortex cell migration (GO:0021795)|cleavage furrow formation (GO:0036089)|forebrain radial glial cell differentiation (GO:0021861)|negative chemotaxis (GO:0050919)|negative regulation of axonogenesis (GO:0050771)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification involved in bone maturation (GO:0043931)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of podosome assembly (GO:0071803)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of translation (GO:0045727)|positive regulation of vasoconstriction (GO:0045907)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion transport (GO:0051924)|regulation of cell migration (GO:0030334)|regulation of dendrite development (GO:0050773)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of osteoblast proliferation (GO:0033688)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|Rho protein signal transduction (GO:0007266)|skeletal muscle tissue development (GO:0007519)|small GTPase mediated signal transduction (GO:0007264)|spindle assembly involved in mitosis (GO:0090307)|stress fiber assembly (GO:0043149)|stress-activated protein kinase signaling cascade (GO:0031098)|substantia nigra development (GO:0021762)|trabecula morphogenesis (GO:0061383)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical junction complex (GO:0043296)|axon (GO:0030424)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin binding (GO:0017022)			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		AGGCGATCATAATCTTCCTGC	0.493																																						ENST00000418115.1		NA																	0				cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(196-198)Tat>Aat		ras homolog family member A	Atorvastatin(DB01076)|Simvastatin(DB00641)						122.0	117.0	119.0					3																	49405942		2203	4300	6503	SO:0001583	missense	387				axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity|myosin binding	g.chr3:49405942A>T	BC001360	CCDS2795.1	3p21.3	2012-02-27	2012-02-27	2004-03-23	ENSG00000067560	ENSG00000067560			667	protein-coding gene	gene with protein product		165390	"""ras homolog gene family, member A"""	ARH12, ARHA		9605859	Standard	NM_001664		Approved	RhoA, Rho12, RHOH12	uc003cwu.3	P61586	OTTHUMG00000156838	ENST00000418115.1:c.196T>A	3.37:g.49405942A>T	ENSP00000400175:p.Tyr66Asn	False	False		Somatic	0				RHOA_ENST00000454011.2_Intron|RHOA_ENST00000422781.1_Missense_Mutation_p.Y66N	p.Y66N	NM_001664.2	NP_001655.1	WXS	Illumina HiSeq	Phase_I	P61586	RHOA_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	3	580	-			66					P06749|Q53HM4|Q5U024|Q9UDJ0|Q9UEJ4	Missense_Mutation	SNP	ENST00000418115.1	37	c.196T>A	CCDS2795.1	.	.	.	.	.	.	.	.	.	.	A	28.1	4.889072	0.91814	.	.	ENSG00000067560	ENST00000418115;ENST00000422781;ENST00000445425	D;D;D	0.81579	-1.51;-1.51;-1.51	5.78	5.78	0.91487	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.91696	0.7375	M	0.92970	3.365	0.80722	D	1	P	0.40398	0.716	P	0.60012	0.867	D	0.93013	0.6433	10	0.87932	D	0	.	14.9619	0.71164	1.0:0.0:0.0:0.0	.	66	P61586	RHOA_HUMAN	N	66	ENSP00000400175:Y66N;ENSP00000413587:Y66N;ENSP00000408402:Y66N	ENSP00000400175:Y66N	Y	-	1	0	RHOA	49380946	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.163000	0.94750	2.219000	0.72066	0.450000	0.29827	TAT		0.493	RHOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346157.3	0	NM_001664		3:49405942
OR52A1	23538	broad.mit.edu	37	11	5173196	5173196	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr11:5173196G>A	ENST00000380367.1	-	2	821	c.404C>T	c.(403-405)gCc>gTc	p.A135V	OR52A1_ENST00000328942.1_Missense_Mutation_p.A135V			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	135					sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAAGATGTTGGCATGTCTTAG	0.498																																						ENST00000380367.1		NA																	0				breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19						c.(403-405)gCc>gTc		olfactory receptor, family 52, subfamily A, member 1							101.0	85.0	90.0					11																	5173196		2201	4298	6499	SO:0001583	missense	23538				sensory perception of smell	integral to plasma membrane	olfactory receptor activity	g.chr11:5173196G>A	AF154673	CCDS31374.1	11p15.4	2012-08-09			ENSG00000182070	ENSG00000182070		"""GPCR / Class A : Olfactory receptors"""	8318	protein-coding gene	gene with protein product						10512676	Standard	NM_012375		Approved	HPFH1OR	uc010qyy.2	Q9UKL2	OTTHUMG00000066603	ENST00000380367.1:c.404C>T	11.37:g.5173196G>A	ENSP00000369725:p.Ala135Val	False	False		Somatic	0				OR52A1_ENST00000328942.1_Missense_Mutation_p.A135V	p.A135V			WXS	Illumina HiSeq	Phase_I	Q9UKL2	O52A1_HUMAN		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	821	-		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)	135					Q6IF31	Missense_Mutation	SNP	ENST00000380367.1	37	c.404C>T	CCDS31374.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.919421	0.33908	.	.	ENSG00000182070	ENST00000380367;ENST00000328942	T;T	0.00411	7.53;7.53	5.28	3.38	0.38709	GPCR, rhodopsin-like superfamily (1);	0.674735	0.13640	N	0.373031	T	0.00496	0.0016	M	0.68952	2.095	0.09310	N	1	P	0.42161	0.772	B	0.38842	0.283	T	0.49862	-0.8894	10	0.87932	D	0	.	14.4598	0.67440	0.0:0.3045:0.6955:0.0	.	135	Q9UKL2	O52A1_HUMAN	V	135	ENSP00000369725:A135V;ENSP00000333684:A135V	ENSP00000333684:A135V	A	-	2	0	OR52A1	5129772	0.000000	0.05858	0.022000	0.16811	0.311000	0.27955	0.180000	0.16860	0.765000	0.33221	0.591000	0.81541	GCC		0.498	OR52A1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142810.2	0	NM_012375		11:5173196
PLXNB3	5365	broad.mit.edu	37	X	153036952	153036952	+	Missense_Mutation	SNP	G	G	A	rs141109198		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chrX:153036952G>A	ENST00000361971.5	+	14	2473	c.2359G>A	c.(2359-2361)Gac>Aac	p.D787N	PLXNB3_ENST00000538282.1_Missense_Mutation_p.D397N|PLXNB3_ENST00000538966.1_Missense_Mutation_p.D810N|PLXNB3_ENST00000538776.1_Missense_Mutation_p.D440N|PLXNB3_ENST00000538543.1_Intron	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	787	PSI 3.				axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GATCCTGTACGACTGCGCCAT	0.672																																						ENST00000538966.1		NA																	0				central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32						c.(2428-2430)Gac>Aac		plexin B3		G	ASN/ASP,ASN/ASP	0,3820		0,0,0,1630,560	38.0	36.0	37.0		2428,2359	5.1	1.0	X	dbSNP_134	37	2,6718		0,1,1,2425,1867	no	missense,missense	PLXNB3	NM_001163257.1,NM_005393.2	23,23	0,1,1,4055,2427	AA,AG,A,GG,G		0.0298,0.0,0.019	benign,benign	810/1933,787/1910	153036952	2,10538	2190	4294	6484	SO:0001583	missense	5365				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity	g.chrX:153036952G>A	AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"""Plexins"""	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.2359G>A	X.37:g.153036952G>A	ENSP00000355378:p.Asp787Asn	False	False		Somatic	0				PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000538282.1_Missense_Mutation_p.D397N|PLXNB3_ENST00000538776.1_Missense_Mutation_p.D440N|PLXNB3_ENST00000361971.5_Missense_Mutation_p.D787N	p.D810N	NM_001163257.1	NP_001156729.1	WXS	Illumina HiSeq	Phase_I	Q9ULL4	PLXB3_HUMAN			15	2699	+	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		787					B7Z3E6|F5H773|Q9HDA4	Missense_Mutation	SNP	ENST00000361971.5	37	c.2428G>A	CCDS14729.1	.	.	.	.	.	.	.	.	.	.	G	9.597	1.127716	0.20959	0.0	2.98E-4	ENSG00000198753	ENST00000538966;ENST00000361971;ENST00000538776;ENST00000538282	T;T;T;T	0.65549	5.37;5.34;4.75;-0.16	5.11	5.11	0.69529	.	0.049715	0.85682	D	0.000000	T	0.36853	0.0982	N	0.21373	0.66	0.44261	D	0.997117	B;P;B;B	0.36249	0.008;0.545;0.024;0.003	B;B;B;B	0.28849	0.004;0.095;0.02;0.003	T	0.41893	-0.9483	10	0.02654	T	1	.	8.7349	0.34523	0.1051:0.0:0.8949:0.0	.	440;469;810;787	B7Z3H9;B7Z9A5;F5H773;Q9ULL4	.;.;.;PLXB3_HUMAN	N	810;787;440;397	ENSP00000442736:D810N;ENSP00000355378:D787N;ENSP00000445569:D440N;ENSP00000441919:D397N	ENSP00000355378:D787N	D	+	1	0	PLXNB3	152690146	0.213000	0.23551	0.985000	0.45067	0.052000	0.14988	1.359000	0.34113	2.111000	0.64477	0.529000	0.55759	GAC		0.672	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1	0			X:153036952
BOD1L1	259282	broad.mit.edu	37	4	13604934	13604934	+	Missense_Mutation	SNP	G	G	A	rs543366380	byFrequency	TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr4:13604934G>A	ENST00000040738.5	-	10	3725	c.3590C>T	c.(3589-3591)gCc>gTc	p.A1197V		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1197						nucleus (GO:0005634)	DNA binding (GO:0003677)										TCTATGATCGGCATGCTTTTC	0.423													G|||	2	0.000399361	0.0	0.0	5008	,	,		18841	0.0		0.0	False		,,,				2504	0.002					ENST00000040738.5		NA																	0					NA						c.(3589-3591)gCc>gTc		biorientation of chromosomes in cell division 1-like 1							158.0	165.0	163.0					4																	13604934		2203	4300	6503	SO:0001583	missense	259282						DNA binding	g.chr4:13604934G>A	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.3590C>T	4.37:g.13604934G>A	ENSP00000040738:p.Ala1197Val	False	False		Somatic	0					p.A1197V	NM_148894.2	NP_683692.2	WXS	Illumina HiSeq	Phase_I	Q8NFC6	BOD1L_HUMAN			10	3725	-			1197					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	c.3590C>T	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	G	0.102	-1.151148	0.01700	.	.	ENSG00000038219	ENST00000040738	T	0.06528	3.29	5.54	1.31	0.21738	.	0.957388	0.08619	N	0.918700	T	0.06781	0.0173	L	0.51422	1.61	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.42068	-0.9473	10	0.29301	T	0.29	-0.096	5.5925	0.17309	0.2751:0.1489:0.576:0.0	.	1197	Q8NFC6	BOD1L_HUMAN	V	1197	ENSP00000040738:A1197V	ENSP00000040738:A1197V	A	-	2	0	BOD1L	13214032	0.000000	0.05858	0.019000	0.16419	0.000000	0.00434	0.533000	0.23082	0.296000	0.22592	-0.812000	0.03155	GCC		0.423	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	0	NM_148894		4:13604934
DNMT3B	1789	broad.mit.edu	37	20	31385055	31385055	+	Silent	SNP	G	G	C			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr20:31385055G>C	ENST00000328111.2	+	14	1761	c.1440G>C	c.(1438-1440)gtG>gtC	p.V480V	DNMT3B_ENST00000375623.4_3'UTR|DNMT3B_ENST00000344505.4_Silent_p.V460V|DNMT3B_ENST00000348286.2_Silent_p.V460V|DNMT3B_ENST00000353855.2_Silent_p.V460V|DNMT3B_ENST00000201963.3_Silent_p.V472V|DNMT3B_ENST00000443239.3_Silent_p.V418V|DNMT3B_ENST00000456297.2_Silent_p.V384V	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	480	ADD. {ECO:0000255|PROSITE- ProRule:PRU00865}.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ACTGCACTGTGTGCTGCGAGG	0.582																																						ENST00000328111.2		NA																	0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1438-1440)gtG>gtC		DNA (cytosine-5-)-methyltransferase 3 beta							103.0	103.0	103.0					20																	31385055		2203	4300	6503	SO:0001819	synonymous_variant	1789				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity	g.chr20:31385055G>C		CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1	20q11.2	2014-09-17			ENSG00000088305	ENSG00000088305			2979	protein-coding gene	gene with protein product		602900				9662389, 10433969	Standard	NM_006892		Approved		uc002wyc.3	Q9UBC3	OTTHUMG00000032226	ENST00000328111.2:c.1440G>C	20.37:g.31385055G>C		True	False		Somatic	0				DNMT3B_ENST00000353855.2_Silent_p.V460V|DNMT3B_ENST00000348286.2_Silent_p.V460V|DNMT3B_ENST00000344505.4_Silent_p.V460V|DNMT3B_ENST00000375623.4_3'UTR|DNMT3B_ENST00000443239.3_Silent_p.V418V|DNMT3B_ENST00000201963.3_Silent_p.V472V|DNMT3B_ENST00000456297.2_Silent_p.V384V	p.V480V	NM_006892.3	NP_008823.1	WXS	Illumina HiSeq	Phase_I	Q9UBC3	DNM3B_HUMAN			14	1761	+			480			ADD.|Interaction with the PRC2/EED-EZH2 complex (By similarity).		A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Silent	SNP	ENST00000328111.2	37	c.1440G>C	CCDS13205.1																																																																																				0.582	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078643.2	0	NM_006892		20:31385055
AMOT	154796	broad.mit.edu	37	X	112058796	112058796	+	Silent	SNP	C	C	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chrX:112058796C>T	ENST00000524145.1	-	3	1256	c.1182G>A	c.(1180-1182)caG>caA	p.Q394Q	AMOT_ENST00000371962.1_Silent_p.Q162Q|AMOT_ENST00000371959.3_Silent_p.Q394Q|AMOT_ENST00000371958.1_Silent_p.Q162Q|AMOT_ENST00000304758.1_5'UTR			Q4VCS5	AMOT_HUMAN	angiomotin	394					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)	p.Q394Q(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						gctgctgctgctgttgttggt	0.582																																						ENST00000371959.3		NA																	1	Substitution - coding silent(1)	p.Q394Q(1)	lung(1)	breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						c.(1180-1182)caG>caA		angiomotin							38.0	34.0	36.0					X																	112058796		2203	4300	6503	SO:0001819	synonymous_variant	154796				actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity	g.chrX:112058796C>T	AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.1182G>A	X.37:g.112058796C>T		True	False		Somatic	0				AMOT_ENST00000371962.1_Silent_p.Q162Q|AMOT_ENST00000524145.1_Silent_p.Q394Q|AMOT_ENST00000304758.1_5'UTR|AMOT_ENST00000371958.1_Silent_p.Q162Q	p.Q394Q	NM_001113490.1	NP_001106962.1	WXS	Illumina HiSeq	Phase_I	Q4VCS5	AMOT_HUMAN			2	1181	-			394					Q504X5|Q9HD27|Q9UPT1	Silent	SNP	ENST00000524145.1	37	c.1182G>A	CCDS48154.1																																																																																				0.582	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378570.1	0	NM_133265		X:112058796
HEATR1	55127	broad.mit.edu	37	1	236739626	236739626	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr1:236739626G>A	ENST00000366582.3	-	22	3091	c.2977C>T	c.(2977-2979)Cat>Tat	p.H993Y	HEATR1_ENST00000366581.2_Missense_Mutation_p.H993Y	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	993					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AACTTCTGATGAGATTTCAGT	0.318																																						ENST00000366582.3		NA																	0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87						c.(2977-2979)Cat>Tat		HEAT repeat containing 1							133.0	141.0	139.0					1																	236739626		2203	4300	6503	SO:0001583	missense	55127				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	g.chr1:236739626G>A	BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.2977C>T	1.37:g.236739626G>A	ENSP00000355541:p.His993Tyr	False	False		Somatic	0				HEATR1_ENST00000366581.2_Missense_Mutation_p.H993Y	p.H993Y	NM_018072.5	NP_060542.4	WXS	Illumina HiSeq	Phase_I	Q9H583	HEAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		22	3091	-	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	993					Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	ENST00000366582.3	37	c.2977C>T	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	G	2.336	-0.352148	0.05173	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.66099	-0.17;-0.19	5.33	3.46	0.39613	Armadillo-type fold (2);	0.584047	0.17920	N	0.157540	T	0.44138	0.1279	L	0.31294	0.92	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.27226	-1.0080	10	0.02654	T	1	.	11.691	0.51516	0.1441:0.0:0.8559:0.0	.	993;993	Q5T3Q7;Q9H583	.;HEAT1_HUMAN	Y	993	ENSP00000355541:H993Y;ENSP00000355540:H993Y	ENSP00000355540:H993Y	H	-	1	0	HEATR1	234806249	1.000000	0.71417	0.983000	0.44433	0.946000	0.59487	2.700000	0.47085	0.646000	0.30693	0.460000	0.39030	CAT		0.318	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	0	XM_375853		1:236739626
DRD5	1816	broad.mit.edu	37	4	9784853	9784853	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr4:9784853C>G	ENST00000304374.2	+	1	1596	c.1200C>G	c.(1198-1200)atC>atG	p.I400M		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	400					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)	p.I400M(2)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	ACCAAGACATCGTCTTCCACA	0.592																																						ENST00000304374.2		NA																	2	Substitution - Missense(2)	p.I400M(2)	endometrium(1)|kidney(1)	NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57						c.(1198-1200)atC>atG		dopamine receptor D5	Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)						97.0	78.0	84.0					4																	9784853		2203	4300	6503	SO:0001583	missense	0				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		g.chr4:9784853C>G	X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"""GPCR / Class A : Dopamine receptors"""	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.1200C>G	4.37:g.9784853C>G	ENSP00000306129:p.Ile400Met	False	False		Somatic	0					p.I400M	NM_000798.4	NP_000789.1	WXS	Illumina HiSeq	Phase_I	P21918	DRD5_HUMAN			1	1596	+			400					B2R9S3|Q8NEQ8	Missense_Mutation	SNP	ENST00000304374.2	37	c.1200C>G	CCDS3405.1	.	.	.	.	.	.	.	.	.	.	c	2.136	-0.397995	0.04865	.	.	ENSG00000169676	ENST00000304374	T	0.65364	-0.15	4.73	-9.46	0.00597	.	0.191884	0.44688	D	0.000429	T	0.27098	0.0664	N	0.08118	0	0.09310	N	1	B	0.13145	0.007	B	0.08055	0.003	T	0.04650	-1.0936	10	0.33141	T	0.24	.	5.418	0.16384	0.1584:0.2933:0.4256:0.1227	.	400	P21918	DRD5_HUMAN	M	400	ENSP00000306129:I400M	ENSP00000306129:I400M	I	+	3	3	DRD5	9393951	0.000000	0.05858	0.000000	0.03702	0.163000	0.22366	-2.589000	0.00900	-1.894000	0.01105	-1.614000	0.00798	ATC		0.592	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1	0			4:9784853
IFI44	10561	broad.mit.edu	37	1	79128422	79128422	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr1:79128422C>G	ENST00000370747.4	+	8	1232	c.1147C>G	c.(1147-1149)Ctt>Gtt	p.L383V	IFI44_ENST00000495254.1_3'UTR	NM_006417.4	NP_006408.3	Q8TCB0	IFI44_HUMAN	interferon-induced protein 44	383					response to virus (GO:0009615)	cytoplasm (GO:0005737)				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						TGGATTTGCTCTTTCTGACAT	0.368																																						ENST00000370747.4		NA																	0				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						c.(1147-1149)Ctt>Gtt		interferon-induced protein 44							123.0	111.0	115.0					1																	79128422		2203	4300	6503	SO:0001583	missense	10561				response to virus	cytoplasm		g.chr1:79128422C>G	D28915	CCDS688.1	1p31.1	2013-03-14			ENSG00000137965	ENSG00000137965			16938	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 5"""	610468				7925411	Standard	NM_006417		Approved	MTAP44, p44, TLDC5	uc001dip.4	Q8TCB0	OTTHUMG00000009723	ENST00000370747.4:c.1147C>G	1.37:g.79128422C>G	ENSP00000359783:p.Leu383Val	True	False		Somatic	0				IFI44_ENST00000495254.1_3'UTR	p.L383V	NM_006417.4	NP_006408.3	WXS	Illumina HiSeq	Phase_I	Q8TCB0	IFI44_HUMAN			8	1232	+			383					B7ZAG3|D3DQ80|Q14496	Missense_Mutation	SNP	ENST00000370747.4	37	c.1147C>G	CCDS688.1	.	.	.	.	.	.	.	.	.	.	C	3.724	-0.056868	0.07362	.	.	ENSG00000137965	ENST00000370747	T	0.08458	3.09	3.79	0.729	0.18266	.	0.232813	0.26457	N	0.024265	T	0.01489	0.0048	L	0.39633	1.23	0.80722	D	1	B	0.33266	0.404	B	0.27715	0.082	T	0.47497	-0.9113	10	0.13108	T	0.6	-4.7103	3.4522	0.07502	0.0:0.4573:0.1987:0.344	.	383	Q8TCB0	IFI44_HUMAN	V	383	ENSP00000359783:L383V	ENSP00000359783:L383V	L	+	1	0	IFI44	78901010	0.907000	0.30839	0.079000	0.20413	0.941000	0.58515	0.126000	0.15769	0.153000	0.19213	0.514000	0.50259	CTT		0.368	IFI44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026825.1	0	NM_006417		1:79128422
KCNA1	3736	broad.mit.edu	37	12	5021286	5021286	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr12:5021286G>A	ENST00000382545.3	+	2	1849	c.742G>A	c.(742-744)Gac>Aac	p.D248N	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	248					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|juxtaparanode region of axon (GO:0044224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Amitriptyline(DB00321)|Dalfampridine(DB06637)|Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Nifedipine(DB01115)|Sevoflurane(DB01236)	CAGCAAGACGGACTTCTTCAA	0.493																																						ENST00000382545.3		NA																	0				NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63						c.(742-744)Gac>Aac		potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						85.0	80.0	82.0					12																	5021286		2203	4300	6503	SO:0001583	missense	3736				synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity	g.chr12:5021286G>A	L02750	CCDS8535.1	12p13	2012-07-05			ENSG00000111262	ENSG00000111262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6218	protein-coding gene	gene with protein product		176260		AEMK		1349297, 8821794, 16382104	Standard	NM_000217		Approved	Kv1.1, RBK1, HUK1, MBK1	uc001qnh.3	Q09470	OTTHUMG00000044398	ENST00000382545.3:c.742G>A	12.37:g.5021286G>A	ENSP00000371985:p.Asp248Asn	False	False		Somatic	0				KCNA1_ENST00000543874.2_Intron	p.D248N	NM_000217.2	NP_000208.2	WXS	Illumina HiSeq	Phase_I	Q09470	KCNA1_HUMAN			2	1849	+			248					A6NM83|Q3MIQ9	Missense_Mutation	SNP	ENST00000382545.3	37	c.742G>A	CCDS8535.1	.	.	.	.	.	.	.	.	.	.	G	11.10	1.538245	0.27475	.	.	ENSG00000111262	ENST00000382545;ENST00000228858	D	0.97256	-4.31	4.97	4.97	0.65823	Ion transport (1);	0.124139	0.56097	D	0.000038	D	0.94059	0.8096	L	0.31664	0.95	0.41605	D	0.988877	B	0.16603	0.018	B	0.25759	0.063	D	0.90746	0.4653	10	0.19590	T	0.45	.	17.7728	0.88497	0.0:0.0:1.0:0.0	.	248	Q09470	KCNA1_HUMAN	N	248	ENSP00000371985:D248N	ENSP00000228858:D248N	D	+	1	0	KCNA1	4891547	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.661000	0.83786	2.735000	0.93741	0.655000	0.94253	GAC		0.493	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103343.2	0	NM_000217		12:5021286
TLE3	7090	broad.mit.edu	37	15	70346894	70346894	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr15:70346894G>T	ENST00000558939.1	-	16	3095	c.1718C>A	c.(1717-1719)aCg>aAg	p.T573K	TLE3_ENST00000558379.1_Missense_Mutation_p.T568K|TLE3_ENST00000560939.1_Missense_Mutation_p.T575K|TLE3_ENST00000559929.1_Missense_Mutation_p.T583K|TLE3_ENST00000539550.1_Missense_Mutation_p.T500K|TLE3_ENST00000557997.1_Missense_Mutation_p.T565K|TLE3_ENST00000558201.1_Missense_Mutation_p.T579K|TLE3_ENST00000559191.1_Missense_Mutation_p.T154K|TLE3_ENST00000442299.2_Missense_Mutation_p.T565K|TLE3_ENST00000440567.3_Missense_Mutation_p.T563K|TLE3_ENST00000559048.1_Missense_Mutation_p.T573K|TLE3_ENST00000451782.2_Missense_Mutation_p.T570K|TLE3_ENST00000317509.8_Missense_Mutation_p.T561K|TLE3_ENST00000560589.1_Missense_Mutation_p.T517K|TLE3_ENST00000557907.1_Missense_Mutation_p.T565K	NM_001282979.1|NM_001282980.1|NM_001282981.1	NP_001269908.1|NP_001269909.1|NP_001269910.1	Q04726	TLE3_HUMAN	transducin-like enhancer of split 3	573					Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AGCCGAGGACGTCAGCTCGGC	0.662																																						ENST00000558939.1		NA																	0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1717-1719)aCg>aAg		transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)							37.0	42.0	41.0					15																	70346894		2192	4297	6489	SO:0001583	missense	7090				organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding	g.chr15:70346894G>T	M99438	CCDS45293.1, CCDS45294.1, CCDS58375.1, CCDS61689.1, CCDS61691.1, CCDS61692.1, CCDS73747.1	15q22	2014-03-07	2014-03-07			ENSG00000140332		"""WD repeat domain containing"""	11839	protein-coding gene	gene with protein product		600190	"""transducin-like enhancer of split 3, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005254623		Approved	ESG, ESG3, KIAA1547, HsT18976, GRG3	uc002asm.2	Q04726		ENST00000558939.1:c.1718C>A	15.37:g.70346894G>T	ENSP00000452871:p.Thr573Lys	False	False		Somatic	0				TLE3_ENST00000451782.2_Missense_Mutation_p.T570K|TLE3_ENST00000557997.1_Missense_Mutation_p.T565K|TLE3_ENST00000558379.1_Missense_Mutation_p.T568K|TLE3_ENST00000442299.2_Missense_Mutation_p.T565K|TLE3_ENST00000539550.1_Missense_Mutation_p.T500K|TLE3_ENST00000560939.1_Missense_Mutation_p.T575K|TLE3_ENST00000560589.1_Missense_Mutation_p.T517K|TLE3_ENST00000559191.1_Missense_Mutation_p.T154K|TLE3_ENST00000557907.1_Missense_Mutation_p.T565K|TLE3_ENST00000559048.1_Missense_Mutation_p.T573K|TLE3_ENST00000558201.1_Missense_Mutation_p.T579K|TLE3_ENST00000559929.1_Missense_Mutation_p.T583K|TLE3_ENST00000440567.3_Missense_Mutation_p.T563K|TLE3_ENST00000317509.8_Missense_Mutation_p.T561K	p.T573K	NM_001282979.1|NM_001282980.1|NM_001282981.1	NP_001269908.1|NP_001269909.1|NP_001269910.1	WXS	Illumina HiSeq	Phase_I	Q04726	TLE3_HUMAN			16	3095	-			573					B4DPT0|E9PD64|F8W964|Q6PI57|Q8IVV6|Q8WVR2|Q9HCM5	Missense_Mutation	SNP	ENST00000558939.1	37	c.1718C>A	CCDS45293.1	.	.	.	.	.	.	.	.	.	.	G	31	5.098445	0.94197	.	.	ENSG00000140332	ENST00000442299;ENST00000451782;ENST00000317509;ENST00000440567;ENST00000539550	T;T;T;T	0.59906	0.23;0.23;0.23;0.23	4.83	4.83	0.62350	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	0.66992	0.2846	L	0.34521	1.04	0.80722	D	1	D;D;D;D;D;D;D;D	0.76494	0.997;0.999;0.996;0.999;0.999;0.999;0.999;0.998	D;D;D;D;D;D;D;P	0.74348	0.983;0.96;0.937;0.977;0.971;0.977;0.957;0.908	T	0.68209	-0.5469	10	0.49607	T	0.09	-5.6579	17.7019	0.88298	0.0:0.0:1.0:0.0	.	563;570;565;568;561;573;573;500	F8W964;E9PD64;Q04726-3;Q6PI57;Q04726-2;Q04726;Q04726-4;F5H7D6	.;.;.;.;.;TLE3_HUMAN;.;.	K	565;570;573;563;500	ENSP00000390007:T565K;ENSP00000394717:T570K;ENSP00000415057:T563K;ENSP00000442594:T500K	ENSP00000319233:T573K	T	-	2	0	TLE3	68133948	1.000000	0.71417	0.995000	0.50966	0.982000	0.71751	9.530000	0.98051	2.515000	0.84797	0.462000	0.41574	ACG		0.662	TLE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416913.1	0	NM_005078		15:70346894
DDX11	1663	broad.mit.edu	37	12	31256819	31256819	+	Missense_Mutation	SNP	C	C	G	rs368042207		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr12:31256819C>G	ENST00000407793.2	+	27	3016	c.2765C>G	c.(2764-2766)cCg>cGg	p.P922R	DDX11_ENST00000228264.6_3'UTR|DDX11_ENST00000350437.4_3'UTR|DDX11_ENST00000545668.1_Missense_Mutation_p.P922R|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000542838.1_3'UTR	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	922					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					TTGTCCTGCCCGCTGGAGACA	0.607										Multiple Myeloma(12;0.14)																												ENST00000407793.2		NA																	0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57						c.(2764-2766)cCg>cGg		DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11							70.0	72.0	71.0					12																	31256819		2203	4300	6503	SO:0001583	missense	1663				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding	g.chr12:31256819C>G	U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"""DEAD-boxes"""	2736	protein-coding gene	gene with protein product	"""CHL1-like helicase homolog (S. cerevisiae)"""	601150	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)"", ""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"""				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.2765C>G	12.37:g.31256819C>G	ENSP00000384703:p.Pro922Arg	True	False	Multiple Myeloma(12;0.14)	Somatic	0				DDX11_ENST00000228264.6_3'UTR|DDX11_ENST00000542838.1_3'UTR|DDX11_ENST00000350437.4_3'UTR|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000545668.1_Missense_Mutation_p.P922R	p.P922R	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	WXS	Illumina HiSeq	Phase_I	Q96FC9	DDX11_HUMAN			27	3016	+	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)		922					Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000407793.2	37	c.2765C>G	CCDS44856.1	.	.	.	.	.	.	.	.	.	.	C	3.745	-0.052757	0.07362	.	.	ENSG00000013573	ENST00000407793;ENST00000545668	T;T	0.73152	-0.72;-0.72	1.32	0.398	0.16319	.	.	.	.	.	T	0.44435	0.1293	N	0.08118	0	0.09310	N	0.999997	B	0.29232	0.238	B	0.27608	0.081	T	0.30416	-0.9979	9	0.41790	T	0.15	.	3.8887	0.09110	0.0:0.756:0.0:0.244	.	922	Q96FC9	DDX11_HUMAN	R	922	ENSP00000384703:P922R;ENSP00000440402:P922R	ENSP00000384703:P922R	P	+	2	0	DDX11	31148086	0.000000	0.05858	0.010000	0.14722	0.007000	0.05969	-0.158000	0.10070	0.136000	0.18733	-1.250000	0.01514	CCG		0.607	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399728.1	0	NM_030653		12:31256819
SYT9	143425	broad.mit.edu	37	11	7334873	7334873	+	Missense_Mutation	SNP	G	G	A	rs374567594		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr11:7334873G>A	ENST00000318881.6	+	3	982	c.745G>A	c.(745-747)Gcc>Acc	p.A249T	SYT9_ENST00000396716.2_Missense_Mutation_p.A217T	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	249	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|secretory granule membrane (GO:0030667)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)	p.A249T(1)		NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		CAATTTGCCCGCCAAGGACTT	0.408																																						ENST00000318881.6		NA																	1	Substitution - Missense(1)	p.A249T(1)	pancreas(1)	NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38						c.(745-747)Gcc>Acc		synaptotagmin IX		G	THR/ALA	0,4402		0,0,2201	112.0	113.0	112.0		745	5.9	1.0	11		112	1,8591	1.2+/-3.3	0,1,4295	no	missense	SYT9	NM_175733.3	58	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	249/492	7334873	1,12993	2201	4296	6497	SO:0001583	missense	143425					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr11:7334873G>A	AK055003	CCDS7778.1	11p15.4	2013-01-21			ENSG00000170743	ENSG00000170743		"""Synaptotagmins"""	19265	protein-coding gene	gene with protein product		613528				11543631	Standard	NM_175733		Approved		uc001mfe.3	Q86SS6	OTTHUMG00000165499	ENST00000318881.6:c.745G>A	11.37:g.7334873G>A	ENSP00000324419:p.Ala249Thr	True	False		Somatic	0				SYT9_ENST00000396716.2_Missense_Mutation_p.A217T	p.A249T	NM_175733.3	NP_783860.1	WXS	Illumina HiSeq	Phase_I	Q86SS6	SYT9_HUMAN		Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)	3	982	+			249			C2 1.			Missense_Mutation	SNP	ENST00000318881.6	37	c.745G>A	CCDS7778.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.000779	0.93227	0.0	1.16E-4	ENSG00000170743	ENST00000396716;ENST00000318881	T;T	0.70282	-0.47;-0.47	5.87	5.87	0.94306	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);Synaptotagmin (1);	0.000000	0.64402	D	0.000001	T	0.82176	0.4980	M	0.75085	2.285	0.80722	D	1	D	0.60575	0.988	P	0.58331	0.837	D	0.83373	0.0008	10	0.87932	D	0	.	18.0718	0.89410	0.0:0.0:1.0:0.0	.	249	Q86SS6	SYT9_HUMAN	T	217;249	ENSP00000379944:A217T;ENSP00000324419:A249T	ENSP00000324419:A249T	A	+	1	0	SYT9	7291449	1.000000	0.71417	0.974000	0.42286	0.984000	0.73092	9.813000	0.99286	2.941000	0.99782	0.655000	0.94253	GCC		0.408	SYT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384483.1	0	NM_175733		11:7334873
ABCA3	21	broad.mit.edu	37	16	2347809	2347809	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr16:2347809C>G	ENST00000301732.5	-	16	2710	c.2010G>C	c.(2008-2010)agG>agC	p.R670S	ABCA3_ENST00000382381.3_Missense_Mutation_p.R612S	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	670	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	AGAGCTTGCGCCTCATGCCCC	0.632																																						ENST00000301732.5		NA																	0				breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70						c.(2008-2010)agG>agC		ATP-binding cassette, sub-family A (ABC1), member 3							92.0	83.0	86.0					16																	2347809		2198	4300	6498	SO:0001583	missense	21				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:2347809C>G	U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"""ATP binding cassette transporters / subfamily A"""	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.2010G>C	16.37:g.2347809C>G	ENSP00000301732:p.Arg670Ser	False	False		Somatic	0				ABCA3_ENST00000382381.3_Missense_Mutation_p.R612S	p.R670S	NM_001089.2	NP_001080.2	WXS	Illumina HiSeq	Phase_I	Q99758	ABCA3_HUMAN			16	2710	-		Ovarian(90;0.17)	670			ABC transporter 1.		B2RU09|Q54A95|Q6P5P9|Q92473	Missense_Mutation	SNP	ENST00000301732.5	37	c.2010G>C	CCDS10466.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.958616	0.53400	.	.	ENSG00000167972	ENST00000301732;ENST00000382381	D;T	0.94723	-3.5;-0.88	5.55	4.54	0.55810	ABC transporter, conserved site (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.393893	0.30510	N	0.009465	D	0.93200	0.7834	M	0.71581	2.175	0.80722	D	1	B;P;B	0.36183	0.033;0.542;0.033	B;B;B	0.38225	0.155;0.268;0.063	D	0.92912	0.6348	10	0.87932	D	0	.	11.1369	0.48378	0.0:0.9051:0.0:0.0949	.	670;674;670	A7MBM9;Q4LE27;Q99758	.;.;ABCA3_HUMAN	S	670;674	ENSP00000301732:R670S;ENSP00000371818:R674S	ENSP00000301732:R670S	R	-	3	2	ABCA3	2287810	1.000000	0.71417	0.999000	0.59377	0.498000	0.33706	1.310000	0.33551	2.894000	0.99253	0.655000	0.94253	AGG		0.632	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	0	NM_001089		16:2347809
FTHL17	53940	broad.mit.edu	37	X	31089614	31089614	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chrX:31089614C>T	ENST00000359202.3	-	1	556	c.457G>A	c.(457-459)Gtg>Atg	p.V153M		NM_031894.2	NP_114100.1	Q9BXU8	FHL17_HUMAN	ferritin, heavy polypeptide-like 17	153	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)		ferric iron binding (GO:0008199)			endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						AGGTTGCTCACGTAGCCACCC	0.617																																						ENST00000359202.3		NA																	0				endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						c.(457-459)Gtg>Atg		ferritin, heavy polypeptide-like 17							68.0	59.0	62.0					X																	31089614		2202	4300	6502	SO:0001583	missense	53940				cellular iron ion homeostasis|iron ion transport		ferric iron binding|oxidoreductase activity	g.chrX:31089614C>T	AF285592	CCDS14227.1	Xp21.2	2010-07-06			ENSG00000132446	ENSG00000132446			3987	protein-coding gene	gene with protein product	"""cancer/testis antigen 38"""	300308				11279525	Standard	NM_031894		Approved	CT38	uc004dcl.1	Q9BXU8	OTTHUMG00000021332	ENST00000359202.3:c.457G>A	X.37:g.31089614C>T	ENSP00000368207:p.Val153Met	False	False		Somatic	0					p.V153M	NM_031894.2	NP_114100.1	WXS	Illumina HiSeq	Phase_I	Q9BXU8	FHL17_HUMAN			1	556	-			153			Ferritin-like diiron.		Q6NT24|Q6NTE2	Missense_Mutation	SNP	ENST00000359202.3	37	c.457G>A	CCDS14227.1	.	.	.	.	.	.	.	.	.	.	C	11.19	1.565741	0.27915	.	.	ENSG00000132446	ENST00000359202	T	0.65549	-0.16	3.95	-7.89	0.01174	Ferritin/ribonucleotide reductase-like (1);Ferritin-related (1);Ferritin/DPS protein domain (1);Ferritin-like (1);	0.813860	0.11045	N	0.605645	T	0.63307	0.2500	M	0.75777	2.31	0.20489	N	0.999899	D	0.67145	0.996	P	0.52109	0.69	T	0.73445	-0.3980	10	0.62326	D	0.03	.	7.1071	0.25370	0.0696:0.0807:0.4098:0.4399	.	153	Q9BXU8	FHL17_HUMAN	M	153	ENSP00000368207:V153M	ENSP00000368207:V153M	V	-	1	0	FTHL17	30999535	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-5.299000	0.00133	-5.197000	0.00019	-0.337000	0.08149	GTG		0.617	FTHL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056178.1	0	NM_031894		X:31089614
FREM1	158326	broad.mit.edu	37	9	14842569	14842569	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr9:14842569C>T	ENST00000380880.3	-	9	2266	c.1483G>A	c.(1483-1485)Gtg>Atg	p.V495M	FREM1_ENST00000380881.4_Missense_Mutation_p.V496M|FREM1_ENST00000422223.2_Missense_Mutation_p.V495M			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	495					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)	p.V496L(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CGGAAGACCACGAAGTCTTTG	0.517																																						ENST00000380881.4		NA																	1	Substitution - Missense(1)	p.V496L(1)	ovary(1)	breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(1486-1488)Gtg>Atg		FRAS1 related extracellular matrix 1							123.0	126.0	125.0					9																	14842569		2042	4192	6234	SO:0001583	missense	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14842569C>T	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.1483G>A	9.37:g.14842569C>T	ENSP00000370262:p.Val495Met	False	False		Somatic	0				FREM1_ENST00000380880.3_Missense_Mutation_p.V495M|FREM1_ENST00000422223.2_Missense_Mutation_p.V495M	p.V496M			WXS	Illumina HiSeq	Phase_I	Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	10	2301	-			495					B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	c.1486G>A	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.549879	0.65311	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.46063	0.88;0.88;0.88	5.63	2.76	0.32466	.	0.122894	0.56097	D	0.000034	T	0.53142	0.1778	M	0.66939	2.045	0.39628	D	0.970137	D	0.76494	0.999	D	0.63957	0.92	T	0.54846	-0.8232	10	0.62326	D	0.03	-13.2093	5.4312	0.16454	0.0:0.5833:0.1427:0.274	.	495	Q5H8C1	FREM1_HUMAN	M	496;495;495	ENSP00000370263:V496M;ENSP00000412940:V495M;ENSP00000370262:V495M	ENSP00000370257:V498M	V	-	1	0	FREM1	14832569	1.000000	0.71417	0.999000	0.59377	0.963000	0.63663	1.080000	0.30779	0.847000	0.35167	0.655000	0.94253	GTG		0.517	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	0	NM_144966		9:14842569
FLG2	388698	broad.mit.edu	37	1	152327955	152327955	+	Silent	SNP	G	G	A			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr1:152327955G>A	ENST00000388718.5	-	3	2379	c.2307C>T	c.(2305-2307)agC>agT	p.S769S	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	769	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.S769S(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTTGGCCATAGCTAGACTGAC	0.517																																						ENST00000388718.5		NA																	1	Substitution - coding silent(1)	p.S769S(1)	kidney(1)	NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(2305-2307)agC>agT		filaggrin family member 2							412.0	337.0	362.0					1																	152327955		2203	4300	6503	SO:0001819	synonymous_variant	388698						calcium ion binding|structural molecule activity	g.chr1:152327955G>A	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.2307C>T	1.37:g.152327955G>A		False	False		Somatic	0				FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.S769S	NM_001014342.2	NP_001014364.1	WXS	Illumina HiSeq	Phase_I	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2379	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		769			Ser-rich.		Q9H4U1	Silent	SNP	ENST00000388718.5	37	c.2307C>T	CCDS30861.1																																																																																				0.517	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	0	NM_001014342		1:152327955
MUC1	4582	broad.mit.edu	37	1	155161799	155161799	+	Missense_Mutation	SNP	T	T	G			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr1:155161799T>G	ENST00000368395.1	-	2	405	c.334A>C	c.(334-336)Acc>Ccc	p.T112P	MUC1_ENST00000368392.3_Intron|MUC1_ENST00000368390.3_Intron|MUC1_ENST00000462215.1_Intron|MUC1_ENST00000438413.1_Intron|MUC1_ENST00000457295.2_Intron|MUC1_ENST00000368398.3_Intron|MUC1_ENST00000338684.5_Intron|RP11-201K10.3_ENST00000473363.2_5'Flank|MUC1_ENST00000343256.5_Intron|MUC1_ENST00000368396.4_Intron|MUC1_ENST00000368393.3_Intron|MUC1_ENST00000337604.5_Intron|MUC1_ENST00000342482.4_Intron|MUC1_ENST00000368389.2_Intron	NM_001204285.1|NM_001204286.1	NP_001191214.1|NP_001191215.1	P15941	MUC1_HUMAN	mucin 1, cell surface associated	892					cellular protein metabolic process (GO:0044267)|cellular response to retinoic acid (GO:0071300)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|epithelial cell differentiation (GO:0030855)|female pregnancy (GO:0007565)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of transcription by competitive promoter binding (GO:0010944)|O-glycan processing (GO:0016266)|positive regulation of histone H4 acetylation (GO:0090240)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|post-translational protein modification (GO:0043687)|regulation of transcription from RNA polymerase II promoter in response to stress (GO:0043618)|response to hypoxia (GO:0001666)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|nuclear chromatin (GO:0000790)|vesicle (GO:0031982)	p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|transcription cofactor activity (GO:0003712)			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2)	10	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GCTGGCGGGGTGGTGGAGCCC	0.711			T	IGH@	B-NHL																																	ENST00000368395.1		NA		Dom	yes		1	1q21	4582	T	"""mucin 1, transmembrane"""			L	IGH@		B-NHL		0				breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2)	10						c.(334-336)Acc>Ccc		mucin 1, cell surface associated																																				SO:0001583	missense	4582					apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus	protein binding	g.chr1:155161799T>G	J05581	CCDS1098.1, CCDS30882.1, CCDS30883.1, CCDS41408.1, CCDS41409.1, CCDS55640.1, CCDS55641.1, CCDS55642.1, CCDS55640.2, CCDS72933.1, CCDS72934.1, CCDS72935.1, CCDS72936.1	1q22	2014-01-31	2006-03-14		ENSG00000185499	ENSG00000185499		"""CD molecules"", ""Mucins"""	7508	protein-coding gene	gene with protein product		158340	"""mucin 1, transmembrane"", ""medullary cystic kidney disease 1 (autosomal dominant)"""	PUM, MCKD1		1697589, 23396133	Standard	NM_002456		Approved	CD227, PEM, ADMCKD, ADMCKD1, MCKD, MCD	uc031ppv.1	P15941	OTTHUMG00000035681	ENST00000368395.1:c.334A>C	1.37:g.155161799T>G	ENSP00000357380:p.Thr112Pro	True	False		Somatic	0				MUC1_ENST00000343256.5_Intron|MUC1_ENST00000438413.1_Intron|MUC1_ENST00000368389.2_Intron|MUC1_ENST00000457295.2_Intron|MUC1_ENST00000368392.3_Intron|MUC1_ENST00000368390.3_Intron|MUC1_ENST00000338684.5_Intron|MUC1_ENST00000342482.4_Intron|MUC1_ENST00000368393.3_Intron|MUC1_ENST00000337604.5_Intron|MUC1_ENST00000368398.3_Intron|MUC1_ENST00000368396.4_Intron|MUC1_ENST00000462215.1_Intron	p.T112P	NM_001204285.1|NM_001204286.1	NP_001191214.1|NP_001191215.1	WXS	Illumina HiSeq	Phase_I	P15941	MUC1_HUMAN	Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		2	405	-	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		892					A5YRV1|A6ZID9|A6ZIE0|B1AVQ8|B1AVR0|B6ECA1|E7ESE5|E7EUG9|P13931|P15942|P17626|Q0VAP5|Q0VAP6|Q14128|Q14876|Q16437|Q16442|Q16615|Q6S4Y3|Q7Z547|Q7Z548|Q7Z550|Q7Z552|Q9BXA4|Q9UE75|Q9UE76|Q9UQL1|Q9Y4J2	Missense_Mutation	SNP	ENST00000368395.1	37	c.334A>C	CCDS55640.1	.	.	.	.	.	.	.	.	.	.	T	8.249	0.808546	0.16467	.	.	ENSG00000185499	ENST00000368395;ENST00000425082	T	0.20200	2.09	2.73	0.35	0.16037	.	2.188600	0.02617	N	0.102742	T	0.11024	0.0269	N	0.14661	0.345	0.09310	N	0.999999	D	0.65815	0.995	D	0.68483	0.958	T	0.17684	-1.0361	10	0.39692	T	0.17	.	3.1844	0.06596	0.0:0.2782:0.2183:0.5034	.	112	P15941	MUC1_HUMAN	P	112	ENSP00000357380:T112P	ENSP00000357380:T112P	T	-	1	0	MUC1	153428423	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.417000	0.07088	0.027000	0.15297	-1.038000	0.02383	ACC		0.711	MUC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086735.1	0	NM_002456		1:155161799
KIAA0100	9703	broad.mit.edu	37	17	26961608	26961608	+	Silent	SNP	A	A	G			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr17:26961608A>G	ENST00000528896.2	-	16	3071	c.2997T>C	c.(2995-2997)ccT>ccC	p.P999P	RP11-192H23.7_ENST00000583787.1_RNA|KIAA0100_ENST00000389003.3_Silent_p.P856P|RP11-192H23.7_ENST00000577814.1_RNA|KIAA0100_ENST00000544884.1_Silent_p.P856P	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	999						extracellular region (GO:0005576)		p.P999P(1)		breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					CAGGGGGAAAAGGGCTGCCTG	0.493																																						ENST00000528896.2		NA																	1	Substitution - coding silent(1)	p.P999P(1)	prostate(1)	breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68						c.(2995-2997)ccT>ccC		KIAA0100							110.0	106.0	107.0					17																	26961608		2203	4300	6503	SO:0001819	synonymous_variant	9703					extracellular region		g.chr17:26961608A>G	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.2997T>C	17.37:g.26961608A>G		True	False		Somatic	0				KIAA0100_ENST00000544884.1_Silent_p.P856P|RP11-192H23.7_ENST00000577814.1_RNA|RP11-192H23.7_ENST00000583787.1_RNA|KIAA0100_ENST00000389003.3_Silent_p.P856P	p.P999P	NM_014680.3	NP_055495.2	WXS	Illumina HiSeq	Phase_I	Q14667	K0100_HUMAN			16	3071	-	Lung NSC(42;0.00431)		999					A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Silent	SNP	ENST00000528896.2	37	c.2997T>C	CCDS32595.1																																																																																				0.493	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	0	NM_014680		17:26961608
PCDHB13	56123	broad.mit.edu	37	5	140594939	140594939	+	Missense_Mutation	SNP	C	C	T	rs535862350		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr5:140594939C>T	ENST00000341948.4	+	1	1431	c.1244C>T	c.(1243-1245)gCg>gTg	p.A415V		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	415	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAAAGCAGAGCGGAATACAAC	0.478													C|||	1	0.000199681	0.0	0.0	5008	,	,		20671	0.0		0.0	False		,,,				2504	0.001					ENST00000341948.4		NA																	0				NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66						c.(1243-1245)gCg>gTg									112.0	103.0	106.0					5																	140594939		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140594939C>T	AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"""Cadherins / Protocadherins : Clustered"""	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.1244C>T	5.37:g.140594939C>T	ENSP00000345491:p.Ala415Val	False	False		Somatic	0					p.A415V	NM_018933.2	NP_061756.1	WXS	Illumina HiSeq	Phase_I	Q9Y5F0	PCDBD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1431	+			415			Cadherin 4.		A8K9V6	Missense_Mutation	SNP	ENST00000341948.4	37	c.1244C>T	CCDS4255.1	.	.	.	.	.	.	.	.	.	.	N	14.50	2.553086	0.45487	.	.	ENSG00000187372	ENST00000341948;ENST00000430318;ENST00000419217	T	0.03663	3.85	3.5	1.63	0.23807	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.14270	0.0345	H	0.94423	3.535	0.09310	N	1	P	0.36199	0.543	B	0.42462	0.388	T	0.03863	-1.0997	9	0.87932	D	0	.	10.3549	0.43958	0.148:0.7087:0.1433:0.0	.	415	Q9Y5F0	PCDBD_HUMAN	V	415	ENSP00000345491:A415V	ENSP00000345491:A415V	A	+	2	0	PCDHB13	140575123	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	1.246000	0.32803	0.051000	0.15978	-2.031000	0.00424	GCG		0.478	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	0	NM_018933		5:140594939
ZNF473	25888	broad.mit.edu	37	19	50548290	50548290	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr19:50548290G>T	ENST00000595661.1	+	6	1085	c.590G>T	c.(589-591)aGc>aTc	p.S197I	ZNF473_ENST00000270617.3_Missense_Mutation_p.S197I|ZNF473_ENST00000391821.2_Missense_Mutation_p.S197I|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000601364.1_Intron|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000445728.3_Missense_Mutation_p.S185I			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	197					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		TCCGACCACAGCCAGCAGGAT	0.468																																						ENST00000595661.1		NA																	0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						c.(589-591)aGc>aTc		zinc finger protein 473							65.0	61.0	63.0					19																	50548290		2203	4300	6503	SO:0001583	missense	25888				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding	g.chr19:50548290G>T	AB032967	CCDS33077.1	19q13.33	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	23239	protein-coding gene	gene with protein product						11782445	Standard	NM_015428		Approved	KIAA1141, DKFZP434N043, HZFP100	uc002prn.3	Q8WTR7		ENST00000595661.1:c.590G>T	19.37:g.50548290G>T	ENSP00000472808:p.Ser197Ile	True	False		Somatic	0				ZNF473_ENST00000601364.1_Intron|CTD-2126E3.3_ENST00000599410.1_RNA|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000391821.2_Missense_Mutation_p.S197I|ZNF473_ENST00000270617.3_Missense_Mutation_p.S197I|ZNF473_ENST00000445728.3_Missense_Mutation_p.S185I	p.S197I			WXS	Illumina HiSeq	Phase_I	Q8WTR7	ZN473_HUMAN		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)	6	1085	+		all_neural(266;0.0459)|Ovarian(192;0.0728)	197					A8K8T7|Q9ULS9|Q9Y4Q7	Missense_Mutation	SNP	ENST00000595661.1	37	c.590G>T	CCDS33077.1	.	.	.	.	.	.	.	.	.	.	G	13.95	2.391145	0.42410	.	.	ENSG00000142528	ENST00000270617;ENST00000391821;ENST00000445728	T;T;T	0.09817	3.01;3.01;2.94	4.36	0.983	0.19767	.	0.440569	0.19421	N	0.114692	T	0.07413	0.0187	L	0.29908	0.895	0.28136	N	0.929982	P	0.50943	0.94	P	0.45037	0.467	T	0.27606	-1.0069	10	0.15499	T	0.54	-6.7845	6.053	0.19796	0.1824:0.158:0.6596:0.0	.	197	Q8WTR7	ZN473_HUMAN	I	197;197;185	ENSP00000270617:S197I;ENSP00000375697:S197I;ENSP00000388961:S185I	ENSP00000270617:S197I	S	+	2	0	ZNF473	55240102	.	.	0.124000	0.21820	0.120000	0.20174	.	.	0.336000	0.23639	0.655000	0.94253	AGC		0.468	ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464833.1	0	XM_046390		19:50548290
SPTB	6710	broad.mit.edu	37	14	65260215	65260215	+	Silent	SNP	C	C	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr14:65260215C>T	ENST00000389721.5	-	13	2198	c.2166G>A	c.(2164-2166)tcG>tcA	p.S722S	SPTB_ENST00000389720.3_Silent_p.S722S|SPTB_ENST00000556626.1_Silent_p.S722S|SPTB_ENST00000542895.1_Silent_p.S722S|SPTB_ENST00000389722.3_Silent_p.S722S	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	722					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CCCACTGTGCCGACACCTCCT	0.582																																						ENST00000389722.3		NA																	0				breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106						c.(2164-2166)tcG>tcA		spectrin, beta, erythrocytic							56.0	54.0	55.0					14																	65260215		2203	4300	6503	SO:0001819	synonymous_variant	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65260215C>T		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.2166G>A	14.37:g.65260215C>T		False	False		Somatic	0				SPTB_ENST00000542895.1_Silent_p.S722S|SPTB_ENST00000556626.1_Silent_p.S722S|SPTB_ENST00000389720.3_Silent_p.S722S|SPTB_ENST00000389721.5_Silent_p.S722S	p.S722S	NM_001024858.2	NP_001020029.1	WXS	Illumina HiSeq	Phase_I	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	13	2219	-		all_lung(585;4.15e-09)	722					Q15510|Q15519	Silent	SNP	ENST00000389721.5	37	c.2166G>A	CCDS32100.1																																																																																				0.582	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1	0			14:65260215
SLC8A1	6546	broad.mit.edu	37	2	40656239	40656239	+	Silent	SNP	G	G	A	rs545044457		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr2:40656239G>A	ENST00000403092.1	-	2	1215	c.1182C>T	c.(1180-1182)caC>caT	p.H394H	SLC8A1_ENST00000332839.4_Silent_p.H394H|SLC8A1_ENST00000406391.2_Silent_p.H394H|SLC8A1_ENST00000542756.1_Silent_p.H394H|SLC8A1_ENST00000402441.1_Silent_p.H394H|SLC8A1_ENST00000542024.1_Silent_p.H394H|SLC8A1_ENST00000405269.1_Silent_p.H394H|SLC8A1_ENST00000406785.2_Silent_p.H394H|SLC8A1_ENST00000408028.2_Silent_p.H394H|SLC8A1_ENST00000405901.3_Silent_p.H394H			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	394					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TGTTGACCTCGTGCATGCTGA	0.468													G|||	1	0.000199681	0.0	0.0014	5008	,	,		21448	0.0		0.0	False		,,,				2504	0.0					ENST00000406785.2		NA																	0				NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100						c.(1180-1182)caC>caT		solute carrier family 8 (sodium/calcium exchanger), member 1	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						129.0	103.0	112.0					2																	40656239		2203	4300	6503	SO:0001819	synonymous_variant	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40656239G>A		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.1182C>T	2.37:g.40656239G>A		False	False		Somatic	0				SLC8A1_ENST00000332839.4_Silent_p.H394H|SLC8A1_ENST00000406391.2_Silent_p.H394H|SLC8A1_ENST00000542756.1_Silent_p.H394H|SLC8A1_ENST00000402441.1_Silent_p.H394H|SLC8A1_ENST00000542024.1_Silent_p.H394H|SLC8A1_ENST00000405901.3_Silent_p.H394H|SLC8A1_ENST00000408028.2_Silent_p.H394H|SLC8A1_ENST00000403092.1_Silent_p.H394H|SLC8A1_ENST00000405269.1_Silent_p.H394H	p.H394H			WXS	Illumina HiSeq	Phase_I	P32418	NAC1_HUMAN			2	1371	-			NA					A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Silent	SNP	ENST00000403092.1	37	c.1182C>T	CCDS1806.1																																																																																				0.468	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	0	NM_021097		2:40656239
ANAPC1	64682	broad.mit.edu	37	2	112608394	112608394	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr2:112608394T>C	ENST00000341068.3	-	14	2381	c.1609A>G	c.(1609-1611)Act>Gct	p.T537A		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	537					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|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 K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)		p.T537A(5)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						GGCTTTGGAGTACTAACGCCA	0.433																																						ENST00000341068.3		NA																	5	Substitution - Missense(5)	p.T537A(5)	lung(3)|kidney(1)|endometrium(1)	NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						c.(1609-1611)Act>Gct		anaphase promoting complex subunit 1							109.0	106.0	107.0					2																	112608394		2203	4300	6503	SO:0001583	missense	64682				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		g.chr2:112608394T>C	AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"""Anaphase promoting complex subunits"""	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.1609A>G	2.37:g.112608394T>C	ENSP00000339109:p.Thr537Ala	False	False		Somatic	0					p.T537A	NM_022662.3	NP_073153.1	WXS	Illumina HiSeq	Phase_I	Q9H1A4	APC1_HUMAN			14	2381	-			537					Q2M3H8|Q9BSE6|Q9H8D0	Missense_Mutation	SNP	ENST00000341068.3	37	c.1609A>G	CCDS2093.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	4.716|4.716	0.133071|0.133071	0.09032|0.09032	.|.	.|.	ENSG00000153107|ENSG00000153107	ENST00000341068|ENST00000427997	.|.	.|.	.|.	4.57|4.57	3.37|3.37	0.38596|0.38596	.|.	0.273018|.	0.23039|.	U|.	0.052629|.	T|T	0.55305|0.55305	0.1912|0.1912	L|L	0.45352|0.45352	1.415|1.415	0.37887|0.37887	D|D	0.930579|0.930579	B|.	0.14438|.	0.01|.	B|.	0.18263|.	0.021|.	T|T	0.53535|0.53535	-0.8425|-0.8425	9|5	0.08837|.	T|.	0.75|.	-8.0757|-8.0757	10.3103|10.3103	0.43704|0.43704	0.1479:0.0:0.0:0.8521|0.1479:0.0:0.0:0.8521	.|.	537|.	Q9H1A4|.	APC1_HUMAN|.	A|C	537|71	.|.	ENSP00000339109:T537A|.	T|Y	-|-	1|2	0|0	ANAPC1|ANAPC1	112324865|112324865	1.000000|1.000000	0.71417|0.71417	0.138000|0.138000	0.22173|0.22173	0.127000|0.127000	0.20565|0.20565	3.555000|3.555000	0.53727|0.53727	0.570000|0.570000	0.29347|0.29347	0.369000|0.369000	0.22263|0.22263	ACT|TAC		0.433	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2	0	NM_022662		2:112608394
PCDHGA1	56114	broad.mit.edu	37	5	140712120	140712120	+	Silent	SNP	G	G	A			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr5:140712120G>A	ENST00000517417.1	+	1	1869	c.1869G>A	c.(1867-1869)acG>acA	p.T623T	PCDHGA1_ENST00000378105.3_Silent_p.T623T	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	623	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCTGCACACGGGCGAGGTGC	0.701																																						ENST00000517417.1		NA																	0				breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78						c.(1867-1869)acG>acA									20.0	25.0	23.0					5																	140712120		2146	4222	6368	SO:0001819	synonymous_variant	0							g.chr5:140712120G>A	AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"""Cadherins / Protocadherins : Clustered"""	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.1869G>A	5.37:g.140712120G>A		True	False		Somatic	0				PCDHGA1_ENST00000378105.3_Silent_p.T623T	p.T623T	NM_018912.2	NP_061735.1	WXS	Illumina HiSeq	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1869	+			NA					Q2M273|Q9Y5D6	Silent	SNP	ENST00000517417.1	37	c.1869G>A	CCDS54922.1																																																																																				0.701	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	0	NM_018912		5:140712120
GHDC	84514	broad.mit.edu	37	17	40344270	40344270	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr17:40344270G>A	ENST00000301671.8	-	4	1319	c.878C>T	c.(877-879)gCt>gTt	p.A293V	GHDC_ENST00000587427.1_Missense_Mutation_p.A293V|GHDC_ENST00000593209.1_Missense_Mutation_p.A293V|GHDC_ENST00000590520.1_5'Flank|GHDC_ENST00000436923.2_Missense_Mutation_p.A293V|GHDC_ENST00000428494.2_Missense_Mutation_p.A254V|GHDC_ENST00000414034.3_Missense_Mutation_p.A293V			Q8N2G8	GHDC_HUMAN	GH3 domain containing	293						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		TCCCGAGGCAGCATAAGCAGG	0.607																																						ENST00000301671.8		NA																	0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(877-879)gCt>gTt		GH3 domain containing							114.0	110.0	111.0					17																	40344270		2174	4271	6445	SO:0001583	missense	84514					endoplasmic reticulum|nuclear envelope		g.chr17:40344270G>A	AF316997, BC011056	CCDS11422.1, CCDS45682.1	17q21.2	2006-08-02				ENSG00000167925			24438	protein-coding gene	gene with protein product		608587				11161808, 11735219	Standard	NR_024573		Approved	LGP1	uc002hzf.4	Q8N2G8		ENST00000301671.8:c.878C>T	17.37:g.40344270G>A	ENSP00000301671:p.Ala293Val	False	False		Somatic	0				GHDC_ENST00000414034.3_Missense_Mutation_p.A293V|GHDC_ENST00000587427.1_Missense_Mutation_p.A293V|GHDC_ENST00000593209.1_Missense_Mutation_p.A293V|GHDC_ENST00000436923.2_Missense_Mutation_p.A293V|GHDC_ENST00000428494.2_Missense_Mutation_p.A254V	p.A293V			WXS	Illumina HiSeq	Phase_I	Q8N2G8	GHDC_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.124)	4	1319	-		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)	293					B4DQS4|E9PDB5|Q9BXM6	Missense_Mutation	SNP	ENST00000301671.8	37	c.878C>T	CCDS11422.1	.	.	.	.	.	.	.	.	.	.	G	11.93	1.784509	0.31593	.	.	ENSG00000167925	ENST00000393854;ENST00000428494;ENST00000414034;ENST00000301671;ENST00000436923	.	.	.	4.21	-0.341	0.12639	.	0.575297	0.16115	N	0.228891	T	0.30448	0.0765	L	0.50333	1.59	0.24253	N	0.995312	B;B;B	0.24186	0.079;0.099;0.028	B;B;B	0.28011	0.068;0.085;0.019	T	0.25257	-1.0137	9	0.16420	T	0.52	-0.1174	5.9724	0.19359	0.5217:0.0:0.4783:0.0	.	254;293;293	E9PDB5;Q8N2G8-2;Q8N2G8	.;.;GHDC_HUMAN	V	237;254;293;293;293	.	ENSP00000301671:A293V	A	-	2	0	GHDC	37597796	0.000000	0.05858	0.005000	0.12908	0.802000	0.45316	-0.016000	0.12613	0.097000	0.17492	-0.258000	0.10820	GCT		0.607	GHDC-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449794.1	0	NM_032484		17:40344270
GRIK4	2900	broad.mit.edu	37	11	120838027	120838027	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr11:120838027C>T	ENST00000527524.2	+	19	2677	c.2390C>T	c.(2389-2391)gCt>gTt	p.A797V	GRIK4_ENST00000438375.2_Missense_Mutation_p.A797V	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	797					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		GATCACAGAGCTAAAGGTAAG	0.522																																						ENST00000527524.2		NA																	0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69						c.(2389-2391)gCt>gTt		glutamate receptor, ionotropic, kainate 4	L-Glutamic Acid(DB00142)						109.0	98.0	102.0					11																	120838027		2203	4299	6502	SO:0001583	missense	2900				glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr11:120838027C>T	S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.2390C>T	11.37:g.120838027C>T	ENSP00000435648:p.Ala797Val	False	False		Somatic	0				GRIK4_ENST00000438375.2_Missense_Mutation_p.A797V	p.A797V	NM_001282470.1	NP_001269399.1	WXS	Illumina HiSeq	Phase_I	Q16099	GRIK4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	19	2677	+		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)	797					A8K9L1	Missense_Mutation	SNP	ENST00000527524.2	37	c.2390C>T	CCDS8433.1	.	.	.	.	.	.	.	.	.	.	C	35	5.503700	0.96371	.	.	ENSG00000149403	ENST00000527524;ENST00000438375	T;T	0.54479	0.57;0.57	5.41	5.41	0.78517	Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.71204	0.3312	M	0.64676	1.99	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	T	0.73678	-0.3907	10	0.87932	D	0	.	18.7905	0.91973	0.0:1.0:0.0:0.0	.	797	Q16099	GRIK4_HUMAN	V	797	ENSP00000435648:A797V;ENSP00000404063:A797V	ENSP00000404063:A797V	A	+	2	0	GRIK4	120343237	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.032000	0.70918	2.537000	0.85549	0.563000	0.77884	GCT		0.522	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109760.4	0	NM_014619		11:120838027
TPRG1	285386	broad.mit.edu	37	3	189028237	189028237	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr3:189028237G>A	ENST00000345063.3	+	5	709	c.542G>A	c.(541-543)cGc>cAc	p.R181H	TPRG1_ENST00000433971.1_Missense_Mutation_p.R181H	NM_198485.3	NP_940887.1	Q6ZUI0	TPRG1_HUMAN	tumor protein p63 regulated 1	181						cytoplasm (GO:0005737)				endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1)	16	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)		CTTCTGTCCCGCTGGAACCCA	0.473																																						ENST00000345063.3		NA																	0				endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1)	16						c.(541-543)cGc>cAc		tumor protein p63 regulated 1							80.0	78.0	79.0					3																	189028237		2203	4300	6503	SO:0001583	missense	285386							g.chr3:189028237G>A	AK125682	CCDS3292.1	3q28	2008-02-04	2008-01-16	2008-01-16	ENSG00000188001	ENSG00000188001			24759	protein-coding gene	gene with protein product			"""family with sequence similarity 79, member B"""	FAM79B			Standard	NM_198485		Approved	FLJ41238, FLJ43694	uc003frw.2	Q6ZUI0	OTTHUMG00000156321	ENST00000345063.3:c.542G>A	3.37:g.189028237G>A	ENSP00000341031:p.Arg181His	True	False		Somatic	0				TPRG1_ENST00000433971.1_Missense_Mutation_p.R181H	p.R181H	NM_198485.3	NP_940887.1	WXS	Illumina HiSeq	Phase_I	Q6ZUI0	TPRG1_HUMAN	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)	5	709	+	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	181						Missense_Mutation	SNP	ENST00000345063.3	37	c.542G>A	CCDS3292.1	.	.	.	.	.	.	.	.	.	.	G	19.64	3.865563	0.71949	.	.	ENSG00000188001	ENST00000433971;ENST00000345063	.	.	.	5.83	4.93	0.64822	.	0.052144	0.64402	D	0.000001	T	0.61350	0.2340	M	0.74647	2.275	0.52099	D	0.999945	B	0.17465	0.022	B	0.10450	0.005	T	0.62248	-0.6894	9	0.87932	D	0	-2.1854	10.2396	0.43303	0.1661:0.0:0.8339:0.0	.	181	Q6ZUI0	TPRG1_HUMAN	H	181	.	ENSP00000341031:R181H	R	+	2	0	TPRG1	190510931	1.000000	0.71417	0.494000	0.27515	0.710000	0.40934	4.374000	0.59543	1.416000	0.47057	0.585000	0.79938	CGC		0.473	TPRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343931.1	0	NM_198485		3:189028237
KLB	152831	broad.mit.edu	37	4	39448687	39448687	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr4:39448687G>A	ENST00000257408.4	+	4	2438	c.2341G>A	c.(2341-2343)Gac>Aac	p.D781N		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	781	Glycosyl hydrolase-1 2.				carbohydrate metabolic process (GO:0005975)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor binding (GO:0017134)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						CAAGACCGGGGACTACCCCGC	0.672																																						ENST00000257408.4		NA																	0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						c.(2341-2343)Gac>Aac		klotho beta							28.0	31.0	30.0					4																	39448687		2188	4276	6464	SO:0001583	missense	152831				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr4:39448687G>A	AB079373	CCDS3451.1	4p14	2008-02-05			ENSG00000134962	ENSG00000134962			15527	protein-coding gene	gene with protein product		611135					Standard	NM_175737		Approved		uc003gua.3	Q86Z14	OTTHUMG00000128577	ENST00000257408.4:c.2341G>A	4.37:g.39448687G>A	ENSP00000257408:p.Asp781Asn	True	False		Somatic	0					p.D781N	NM_175737.3	NP_783864.1	WXS	Illumina HiSeq	Phase_I	Q86Z14	KLOTB_HUMAN			4	2438	+			781			Glycosyl hydrolase-1 2.		Q2M3K8	Missense_Mutation	SNP	ENST00000257408.4	37	c.2341G>A	CCDS3451.1	.	.	.	.	.	.	.	.	.	.	G	19.58	3.854905	0.71719	.	.	ENSG00000134962	ENST00000257408	T	0.33654	1.4	4.95	4.95	0.65309	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.050736	0.85682	D	0.000000	T	0.41465	0.1160	M	0.65975	2.015	0.49051	D	0.99974	P;P	0.44139	0.827;0.827	B;B	0.43445	0.42;0.42	T	0.46289	-0.9202	10	0.87932	D	0	-32.5532	12.6289	0.56646	0.0803:0.0:0.9197:0.0	.	772;781	B7ZL50;Q86Z14	.;KLOTB_HUMAN	N	781	ENSP00000257408:D781N	ENSP00000257408:D781N	D	+	1	0	KLB	39125082	1.000000	0.71417	1.000000	0.80357	0.434000	0.31775	5.387000	0.66243	2.293000	0.77203	0.313000	0.20887	GAC		0.672	KLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250429.1	0	NM_175737		4:39448687
MYH9	4627	broad.mit.edu	37	22	36702080	36702080	+	Silent	SNP	C	C	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr22:36702080C>T	ENST00000216181.5	-	17	2285	c.2055G>A	c.(2053-2055)ccG>ccA	p.P685P		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	685	Myosin motor.				actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GCACGAGATGCGGGTCCAGCT	0.592			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													ENST00000216181.5		NA		Dom	yes		22	22q13.1	4627	T	"""myosin, heavy polypeptide 9, non-muscle"""	yes	"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""	L	ALK		ALCL		0				NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						c.(2053-2055)ccG>ccA		myosin, heavy chain 9, non-muscle							66.0	62.0	64.0					22																	36702080		2203	4300	6503	SO:0001819	synonymous_variant	4627	Hereditary Macrothrombocytopenia, MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36702080C>T		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.2055G>A	22.37:g.36702080C>T		True	False		Somatic	0					p.P685P	NM_002473.4	NP_002464.1	WXS	Illumina HiSeq	Phase_I	P35579	MYH9_HUMAN			17	2285	-			685			Myosin head-like.		A8K6E4|O60805|Q60FE2|Q86T83	Silent	SNP	ENST00000216181.5	37	c.2055G>A	CCDS13927.1																																																																																				0.592	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	0	NM_002473		22:36702080
AHNAK2	113146	broad.mit.edu	37	14	105412376	105412376	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr14:105412376C>T	ENST00000333244.5	-	7	9531	c.9412G>A	c.(9412-9414)Gcc>Acc	p.A3138T	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3138						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CTGTCTTTGGCAGTCACATCC	0.602																																						ENST00000333244.5		NA																	0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(9412-9414)Gcc>Acc		AHNAK nucleoprotein 2							169.0	135.0	146.0					14																	105412376		1908	4076	5984	SO:0001583	missense	113146					nucleus		g.chr14:105412376C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.9412G>A	14.37:g.105412376C>T	ENSP00000353114:p.Ala3138Thr	False	False		Somatic	0				AHNAK2_ENST00000557457.1_Intron	p.A3138T	NM_138420.2	NP_612429.2	WXS	Illumina HiSeq	Phase_I	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	9531	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	3138					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.9412G>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	N	1.596	-0.527716	0.04112	.	.	ENSG00000185567	ENST00000333244	T	0.00902	5.56	2.93	2.02	0.26589	.	.	.	.	.	T	0.00754	0.0025	N	0.25380	0.74	0.09310	N	1	B	0.33637	0.42	B	0.30782	0.12	T	0.49818	-0.8899	9	0.22109	T	0.4	.	5.5134	0.16894	0.0:0.837:0.0:0.163	.	3138	Q8IVF2	AHNK2_HUMAN	T	3138	ENSP00000353114:A3138T	ENSP00000353114:A3138T	A	-	1	0	AHNAK2	104483421	0.000000	0.05858	0.001000	0.08648	0.010000	0.07245	-4.196000	0.00276	0.415000	0.25817	0.313000	0.20887	GCC		0.602	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	0	NM_138420		14:105412376
CD163L1	283316	broad.mit.edu	37	12	7559406	7559406	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr12:7559406C>T	ENST00000313599.3	-	5	866	c.809G>A	c.(808-810)cGc>cAc	p.R270H	CD163L1_ENST00000416109.2_Missense_Mutation_p.R280H|CD163L1_ENST00000396630.1_Missense_Mutation_p.R270H			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	270	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CCCCATACAGCGGTTAGTTCC	0.448																																						ENST00000313599.3		NA																	0				breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						c.(808-810)cGc>cAc		CD163 molecule-like 1							209.0	186.0	194.0					12																	7559406		2203	4300	6503	SO:0001583	missense	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7559406C>T	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.809G>A	12.37:g.7559406C>T	ENSP00000315945:p.Arg270His	False	False		Somatic	0				CD163L1_ENST00000416109.2_Missense_Mutation_p.R280H|CD163L1_ENST00000396630.1_Missense_Mutation_p.R270H	p.R270H			WXS	Illumina HiSeq	Phase_I	Q9NR16	C163B_HUMAN			5	866	-			270			SRCR 3.		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	ENST00000313599.3	37	c.809G>A	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	C	10.37	1.331677	0.24167	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.36340	1.26;1.26;1.26	1.88	-1.44	0.08856	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	.	.	.	.	T	0.24044	0.0582	L	0.37697	1.125	0.09310	N	1	B;B	0.15141	0.012;0.012	B;B	0.09377	0.004;0.004	T	0.21008	-1.0258	9	0.42905	T	0.14	.	5.8061	0.18440	0.0:0.3986:0.0:0.6014	.	280;270	E7EVK4;Q9NR16	.;C163B_HUMAN	H	270;280;270	ENSP00000315945:R270H;ENSP00000393474:R280H;ENSP00000379871:R270H	ENSP00000315945:R270H	R	-	2	0	CD163L1	7450673	0.000000	0.05858	0.000000	0.03702	0.560000	0.35617	-4.189000	0.00277	-0.331000	0.08501	0.460000	0.39030	CGC		0.448	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	0	NM_174941		12:7559406
RALGAPA1	253959	broad.mit.edu	37	14	36064899	36064899	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr14:36064899C>T	ENST00000389698.3	-	36	6022	c.5632G>A	c.(5632-5634)Gta>Ata	p.V1878I	RALGAPA1_ENST00000258840.6_Missense_Mutation_p.V1925I|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.V1891I|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.V1878I	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1878	Minimal domain that binds to TCF3/E12. {ECO:0000250}.|Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TGAAATATTACCTCTACTGTA	0.353																																						ENST00000258840.6		NA																	0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(5773-5775)Gta>Ata		Ral GTPase activating protein, alpha subunit 1 (catalytic)							144.0	141.0	142.0					14																	36064899		2202	4300	6502	SO:0001583	missense	253959				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr14:36064899C>T	AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"""tuberin-like protein 1"", ""GAP-related interacting protein to E12"""	608884	"""GTPase activating RANGAP domain-like 1"", ""GTPase activating Rap/RanGAP domain-like 1"""	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.5632G>A	14.37:g.36064899C>T	ENSP00000374348:p.Val1878Ile	False	False		Somatic	0				RALGAPA1_ENST00000389698.3_Missense_Mutation_p.V1878I|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.V1878I|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.V1891I	p.V1925I	NM_001283044.1	NP_001269973.1	WXS	Illumina HiSeq	Phase_I	Q6GYQ0	RGPA1_HUMAN			37	6163	-			1878			Minimal domain that binds to TCF3/E12 (By similarity).|Rap-GAP.		A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Missense_Mutation	SNP	ENST00000389698.3	37	c.5773G>A	CCDS32065.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.542814	0.86022	.	.	ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000554259;ENST00000382366;ENST00000553892	D;D;D;D;D;D	0.92199	-2.99;-2.99;-2.99;-2.99;-2.99;-2.99	5.05	5.05	0.67936	Rap/ran-GAP (2);	0.000000	0.85682	D	0.000000	D	0.93973	0.8070	L	0.39085	1.19	0.53688	D	0.999976	D;P;P;P	0.76494	0.999;0.927;0.918;0.756	D;P;P;P	0.80764	0.994;0.842;0.554;0.531	D	0.94142	0.7398	10	0.51188	T	0.08	-13.6603	18.7911	0.91974	0.0:1.0:0.0:0.0	.	1925;1891;1878;1878	Q6GYQ0-6;B9EK38;Q6GYQ0-2;Q6GYQ0	.;.;.;RGPA1_HUMAN	I	1878;1878;1878;1925;516;1891;1925	ENSP00000374348:V1878I;ENSP00000302647:V1878I;ENSP00000258840:V1925I;ENSP00000451133:V516I;ENSP00000371803:V1891I;ENSP00000451877:V1925I	ENSP00000258840:V1925I	V	-	1	0	RALGAPA1	35134650	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.039000	0.70972	2.493000	0.84123	0.655000	0.94253	GTA		0.353	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	0	XM_210022		14:36064899
PTCHD2	57540	broad.mit.edu	37	1	11579468	11579468	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr1:11579468C>T	ENST00000294484.6	+	8	2084	c.1946C>T	c.(1945-1947)gCc>gTc	p.A649V	PTCHD2_ENST00000389575.3_Missense_Mutation_p.A649V	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	649					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GACGTGTTTGCCGCTCCCGAG	0.637																																						ENST00000294484.6		NA																	0				NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76						c.(1945-1947)gCc>gTc		patched domain containing 2							131.0	144.0	140.0					1																	11579468		2018	4176	6194	SO:0001583	missense	57540				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	g.chr1:11579468C>T	AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.1946C>T	1.37:g.11579468C>T	ENSP00000294484:p.Ala649Val	False	False		Somatic	0				PTCHD2_ENST00000389575.3_Missense_Mutation_p.A649V	p.A649V	NM_020780.1	NP_065831.1	WXS	Illumina HiSeq	Phase_I	Q9P2K9	PTHD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)	8	2084	+	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	649					Q5VTU9|Q9UJD6	Missense_Mutation	SNP	ENST00000294484.6	37	c.1946C>T	CCDS41247.1	.	.	.	.	.	.	.	.	.	.	c	0.062	-1.222704	0.01530	.	.	ENSG00000204624	ENST00000294484;ENST00000389575	D;D	0.89343	-2.5;-2.5	5.31	4.2	0.49525	.	0.708452	0.14158	N	0.337598	T	0.74741	0.3756	N	0.04959	-0.14	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.60357	-0.7279	10	0.27785	T	0.31	-7.2097	7.9709	0.30127	0.0:0.8421:0.0:0.1579	.	649	Q9P2K9	PTHD2_HUMAN	V	649	ENSP00000294484:A649V;ENSP00000374226:A649V	ENSP00000294484:A649V	A	+	2	0	PTCHD2	11502055	0.037000	0.19845	0.620000	0.29132	0.040000	0.13550	2.572000	0.45999	2.491000	0.84063	0.651000	0.88453	GCC		0.637	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	0	XM_052561		1:11579468
MOV10L1	54456	broad.mit.edu	37	22	50591565	50591565	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr22:50591565C>T	ENST00000262794.5	+	22	3067	c.2984C>T	c.(2983-2985)gCg>gTg	p.A995V	MOV10L1_ENST00000395843.1_Missense_Mutation_p.A38V|MOV10L1_ENST00000354853.2_Missense_Mutation_p.A38V|MOV10L1_ENST00000545383.1_Missense_Mutation_p.A995V|MOV10L1_ENST00000395858.3_Missense_Mutation_p.A995V|MOV10L1_ENST00000540615.1_Missense_Mutation_p.A975V|MOV10L1_ENST00000395852.1_Missense_Mutation_p.A122V	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	995					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		GAGGTCTGTGCGGACCCCACA	0.577																																						ENST00000262794.5		NA																	0				breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67						c.(2983-2985)gCg>gTg		Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)							205.0	191.0	196.0					22																	50591565		2203	4300	6503	SO:0001583	missense	54456				germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding	g.chr22:50591565C>T	AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"""cardiac helicase activated by MEF2C protein"""	605794	"""Mov10 (mouse)-like 1"", ""Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"""			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.2984C>T	22.37:g.50591565C>T	ENSP00000262794:p.Ala995Val	False	False		Somatic	0				MOV10L1_ENST00000354853.2_Missense_Mutation_p.A38V|MOV10L1_ENST00000540615.1_Missense_Mutation_p.A975V|MOV10L1_ENST00000395843.1_Missense_Mutation_p.A38V|MOV10L1_ENST00000395852.1_Missense_Mutation_p.A122V|MOV10L1_ENST00000545383.1_Missense_Mutation_p.A995V|MOV10L1_ENST00000395858.3_Missense_Mutation_p.A995V	p.A995V	NM_018995.2	NP_061868.1	WXS	Illumina HiSeq	Phase_I	Q9BXT6	M10L1_HUMAN		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)	22	3067	+		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)	995					A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Missense_Mutation	SNP	ENST00000262794.5	37	c.2984C>T	CCDS14084.1	.	.	.	.	.	.	.	.	.	.	.	17.01	3.278572	0.59758	.	.	ENSG00000073146	ENST00000545383;ENST00000262794;ENST00000395858;ENST00000395843;ENST00000540615;ENST00000395852;ENST00000354853	D;D;D;D;D;D;D	0.92495	-3.05;-3.05;-3.05;-3.05;-3.05;-3.05;-3.05	5.11	5.11	0.69529	.	0.049834	0.85682	D	0.000000	D	0.95809	0.8636	M	0.77616	2.38	0.45216	D	0.998227	D;D;P;D;D	0.89917	1.0;0.999;0.931;0.999;0.999	D;D;B;D;D	0.66084	0.939;0.935;0.318;0.941;0.919	D	0.96234	0.9170	10	0.72032	D	0.01	-23.7788	18.5434	0.91038	0.0:1.0:0.0:0.0	.	975;38;122;995;995	F5H403;Q9BXT6-3;Q9BXT6-2;A8MXC6;Q9BXT6	.;.;.;.;M10L1_HUMAN	V	995;995;995;38;975;122;38	ENSP00000438978:A995V;ENSP00000262794:A995V;ENSP00000379199:A995V;ENSP00000379184:A38V;ENSP00000438542:A975V;ENSP00000379193:A122V;ENSP00000346917:A38V	ENSP00000262794:A995V	A	+	2	0	MOV10L1	48933692	1.000000	0.71417	0.988000	0.46212	0.046000	0.14306	4.245000	0.58734	2.376000	0.81061	0.462000	0.41574	GCG		0.577	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	0	NM_018995		22:50591565
TATDN2	9797	broad.mit.edu	37	3	10312110	10312110	+	Missense_Mutation	SNP	G	G	A	rs374867810		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr3:10312110G>A	ENST00000287652.4	+	4	2295	c.1244G>A	c.(1243-1245)cGc>cAc	p.R415H	RP11-438J1.1_ENST00000450534.1_3'UTR|TATDN2_ENST00000448281.2_Missense_Mutation_p.R415H	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	415					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|DNA catabolic process (GO:0006308)|endoplasmic reticulum unfolded protein response (GO:0030968)	intracellular organelle (GO:0043229)|nucleoplasm (GO:0005654)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)	p.R415H(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						AGCCGGAGCCGCATGAGTGAT	0.567																																						ENST00000287652.4		NA																	1	Substitution - Missense(1)	p.R415H(1)	prostate(1)	autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						c.(1243-1245)cGc>cAc		TatD DNase domain containing 2							86.0	86.0	86.0					3																	10312110		2203	4300	6503	SO:0001583	missense	9797					nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding	g.chr3:10312110G>A	D86972	CCDS33698.1	3p25.3	2010-11-24			ENSG00000157014	ENSG00000157014			28988	protein-coding gene	gene with protein product						9039502	Standard	NM_014760		Approved	KIAA0218	uc003bvf.3	Q93075	OTTHUMG00000155361	ENST00000287652.4:c.1244G>A	3.37:g.10312110G>A	ENSP00000287652:p.Arg415His	False	False		Somatic	0				TATDN2_ENST00000448281.2_Missense_Mutation_p.R415H|RP11-438J1.1_ENST00000450534.1_3'UTR	p.R415H	NM_014760.3	NP_055575.3	WXS	Illumina HiSeq	Phase_I	Q93075	TATD2_HUMAN			4	2295	+			415					Q3MIL9|Q5BKU0	Missense_Mutation	SNP	ENST00000287652.4	37	c.1244G>A	CCDS33698.1	.	.	.	.	.	.	.	.	.	.	G	8.315	0.822940	0.16678	.	.	ENSG00000157014	ENST00000287652;ENST00000448281	T;T	0.43294	0.95;0.95	4.65	-7.6	0.01303	.	.	.	.	.	T	0.14960	0.0361	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.15723	-1.0427	9	0.30854	T	0.27	-1.0794	1.7629	0.02995	0.2604:0.0815:0.319:0.3391	.	415	Q93075	TATD2_HUMAN	H	415	ENSP00000287652:R415H;ENSP00000408736:R415H	ENSP00000287652:R415H	R	+	2	0	TATDN2	10287110	0.000000	0.05858	0.002000	0.10522	0.142000	0.21351	-0.096000	0.11059	-0.765000	0.04645	-0.280000	0.10049	CGC		0.567	TATDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339641.1	0	XM_376203		3:10312110
AKR7A2	8574	broad.mit.edu	37	1	19632583	19632583	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr1:19632583C>T	ENST00000235835.3	-	6	868	c.847G>A	c.(847-849)Gca>Aca	p.A283T	RNU6-1099P_ENST00000363533.1_RNA	NM_003689.3	NP_003680.2	O43488	ARK72_HUMAN	aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase)	283					carbohydrate metabolic process (GO:0005975)|cellular aldehyde metabolic process (GO:0006081)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|electron carrier activity (GO:0009055)|phenanthrene-9,10-epoxide hydrolase activity (GO:0019119)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GCGCCATATGCGGCCTGCAGG	0.632																																						ENST00000235835.3		NA																	0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(847-849)Gca>Aca		aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase)							81.0	76.0	77.0					1																	19632583		2203	4300	6503	SO:0001583	missense	8574				carbohydrate metabolic process|cellular aldehyde metabolic process	Golgi apparatus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity	g.chr1:19632583C>T	AF026947	CCDS194.1	1p36.13	2010-09-30			ENSG00000053371	ENSG00000053371		"""Aldo-keto reductases"""	389	protein-coding gene	gene with protein product		603418				9576847	Standard	NM_003689		Approved	AFAR	uc001bbw.3	O43488	OTTHUMG00000002522	ENST00000235835.3:c.847G>A	1.37:g.19632583C>T	ENSP00000235835:p.Ala283Thr	False	False		Somatic	0					p.A283T	NM_003689.3	NP_003680.2	WXS	Illumina HiSeq	Phase_I	O43488	ARK72_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	6	868	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	283					O75749|Q5TG63	Missense_Mutation	SNP	ENST00000235835.3	37	c.847G>A	CCDS194.1	.	.	.	.	.	.	.	.	.	.	C	2.734	-0.263746	0.05754	.	.	ENSG00000053371	ENST00000235835;ENST00000330072;ENST00000489286	T;T	0.04234	3.67;3.67	3.84	-4.86	0.03132	NADP-dependent oxidoreductase domain (3);	0.486606	0.22144	N	0.064003	T	0.02807	0.0084	L	0.32530	0.975	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.41963	-0.9479	10	0.20046	T	0.44	.	6.4401	0.21845	0.123:0.3475:0.0:0.5296	.	283	O43488	ARK72_HUMAN	T	283;238;145	ENSP00000235835:A283T;ENSP00000339084:A238T	ENSP00000235835:A283T	A	-	1	0	AKR7A2	19505170	0.010000	0.17322	0.001000	0.08648	0.017000	0.09413	0.315000	0.19451	-0.830000	0.04262	-1.010000	0.02471	GCA		0.632	AKR7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007165.2	0	NM_003689		1:19632583
CFAP46	54777	broad.mit.edu	37	10	134660745	134660745	+	Silent	SNP	C	C	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr10:134660745C>T	ENST00000368586.5	-	42	6133	c.6033G>A	c.(6031-6033)ccG>ccA	p.P2011P	TTC40_ENST00000263170.5_Silent_p.P172P	NM_001200049.2	NP_001186978.2														breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						TGGAGGCCGGCGGGTCCCTGC	0.677																																						ENST00000368586.5		NA																	0				breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						c.(6031-6033)ccG>ccA		tetratricopeptide repeat domain 40							53.0	62.0	59.0					10																	134660745		2203	4300	6503	SO:0001819	synonymous_variant	54777							g.chr10:134660745C>T																												ENST00000368586.5:c.6033G>A	10.37:g.134660745C>T		True	False		Somatic	0				TTC40_ENST00000263170.5_Silent_p.P172P	p.P2011P	NM_001200049.2	NP_001186978.2	WXS	Illumina HiSeq	Phase_I	Q8IYW2	CJ092_HUMAN			42	6133	-			172						Silent	SNP	ENST00000368586.5	37	c.6033G>A	CCDS58101.1																																																																																				0.677	TTC40-001	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051095.3	0			10:134660745
SYNGAP1	8831	broad.mit.edu	37	6	33405686	33405686	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr6:33405686G>A	ENST00000418600.2	+	8	1105	c.1004G>A	c.(1003-1005)cGc>cAc	p.R335H	MIR5004_ENST00000579078.1_RNA|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000428982.2_Missense_Mutation_p.R276H|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.R335H	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	335	C2.				dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						GACAAAAAGCGCAAGAAGGAC	0.607																																						ENST00000418600.2		NA																	0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						c.(1003-1005)cGc>cAc		synaptic Ras GTPase activating protein 1							75.0	69.0	71.0					6																	33405686		2203	4300	6503	SO:0001583	missense	8831				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding	g.chr6:33405686G>A	AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"""synaptic Ras GTPase activating protein 1 homolog (rat)"""			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.1004G>A	6.37:g.33405686G>A	ENSP00000403636:p.Arg335His	False	False		Somatic	0				SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000428982.2_Missense_Mutation_p.R276H|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.R335H	p.R335H	NM_006772.2	NP_006763.2	WXS	Illumina HiSeq	Phase_I	Q96PV0	SYGP1_HUMAN			8	1105	+			335			C2.		A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Missense_Mutation	SNP	ENST00000418600.2	37	c.1004G>A	CCDS34434.2	.	.	.	.	.	.	.	.	.	.	G	19.11	3.763499	0.69763	.	.	ENSG00000197283	ENST00000293748;ENST00000418600;ENST00000449372;ENST00000428982	T;T;T	0.40476	1.03;1.03;1.03	4.5	3.63	0.41609	C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	D	0.000001	T	0.41558	0.1164	L	0.44542	1.39	0.51482	D	0.999924	D;D;D;P	0.89917	1.0;1.0;1.0;0.889	D;D;D;P	0.87578	0.998;0.996;0.996;0.487	T	0.43877	-0.9364	10	0.87932	D	0	.	8.4886	0.33086	0.1058:0.0:0.8942:0.0	.	335;335;335;335	Q96PV0;Q96PV0-2;Q96PV0-4;B7ZCA0	SYGP1_HUMAN;.;.;.	H	335;335;335;276	ENSP00000293748:R335H;ENSP00000403636:R335H;ENSP00000412475:R276H	ENSP00000293748:R335H	R	+	2	0	SYNGAP1	33513664	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	2.360000	0.44151	1.110000	0.41699	0.655000	0.94253	CGC		0.607	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4	0	XM_166407		6:33405686
ZNF285	26974	broad.mit.edu	37	19	44892085	44892085	+	Missense_Mutation	SNP	T	T	A	rs79240579		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr19:44892085T>A	ENST00000330997.4	-	4	386	c.322A>T	c.(322-324)Agt>Tgt	p.S108C	ZNF285_ENST00000544719.2_Missense_Mutation_p.S108C|ZNF285_ENST00000591679.1_Missense_Mutation_p.S115C|CTC-512J12.6_ENST00000588212.1_Intron	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	108					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						CACTCTTCACTGAGGGAAACA	0.393																																						ENST00000330997.4		NA																	0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(322-324)Agt>Tgt		zinc finger protein 285							90.0	89.0	89.0					19																	44892085		2203	4300	6503	SO:0001583	missense	26974							g.chr19:44892085T>A	AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"""Zinc fingers, C2H2-type"", ""-"""	13079	protein-coding gene	gene with protein product			"""zinc finger protein 285A"""	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.322A>T	19.37:g.44892085T>A	ENSP00000333595:p.Ser108Cys	False	False		Somatic	0				ZNF285_ENST00000591679.1_Missense_Mutation_p.S115C|CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Missense_Mutation_p.S108C	p.S108C	NM_152354.3	NP_689567.3	WXS	Illumina HiSeq	Phase_I					4	386	-			NA					Q17RJ3|Q6B0A8|Q6ISR5	Missense_Mutation	SNP	ENST00000330997.4	37	c.322A>T	CCDS12638.1	.	.	.	.	.	.	.	.	.	.	T	5.371	0.253712	0.10185	.	.	ENSG00000062370	ENST00000544719;ENST00000330997	T	0.05717	3.4	3.22	1.05	0.20165	.	.	.	.	.	T	0.02119	0.0066	N	0.01668	-0.77	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43814	-0.9368	9	0.49607	T	0.09	.	2.7258	0.05213	0.644:0.0:0.1304:0.2256	.	132;108	B7ZLR9;Q96NJ3	.;ZN285_HUMAN	C	131;108	ENSP00000333595:S108C	ENSP00000333595:S108C	S	-	1	0	ZNF285	49583925	0.000000	0.05858	0.023000	0.16930	0.271000	0.26615	0.103000	0.15292	0.036000	0.15547	-0.610000	0.04054	AGT		0.393	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443600.1	0	NM_152354		19:44892085
CTNNA3	29119	broad.mit.edu	37	10	68940142	68940142	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr10:68940142C>T	ENST00000433211.2	-	7	1154	c.980G>A	c.(979-981)cGg>cAg	p.R327Q	CTNNA3_ENST00000545309.1_Missense_Mutation_p.R327Q|CTNNA3_ENST00000373744.4_Missense_Mutation_p.R327Q	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3									p.R327Q(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						TGCGATAATCCGCTCTCGGTG	0.517																																						ENST00000433211.2		NA																	2	Substitution - Missense(2)	p.R327Q(2)	skin(2)	breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						c.(979-981)cGg>cAg		catenin (cadherin-associated protein), alpha 3							147.0	126.0	133.0					10																	68940142		2203	4300	6503	SO:0001583	missense	29119				cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	g.chr10:68940142C>T	AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.980G>A	10.37:g.68940142C>T	ENSP00000389714:p.Arg327Gln	False	False		Somatic	0				CTNNA3_ENST00000545309.1_Missense_Mutation_p.R327Q|CTNNA3_ENST00000373744.4_Missense_Mutation_p.R327Q	p.R327Q	NM_013266.2	NP_037398.2	WXS	Illumina HiSeq	Phase_I	Q9UI47	CTNA3_HUMAN			7	1154	-			NA						Missense_Mutation	SNP	ENST00000433211.2	37	c.980G>A	CCDS7269.1	.	.	.	.	.	.	.	.	.	.	C	33	5.199060	0.94997	.	.	ENSG00000183230	ENST00000433211;ENST00000373744;ENST00000545309	T;T;T	0.38722	1.45;1.45;1.12	5.83	5.83	0.93111	.	0.000000	0.46442	D	0.000281	T	0.64811	0.2632	M	0.67700	2.07	0.49213	D	0.999767	D;D;D;D	0.89917	1.0;1.0;0.984;0.998	D;D;P;D	0.87578	0.998;0.998;0.889;0.992	T	0.61816	-0.6985	10	0.45353	T	0.12	-7.9917	18.8814	0.92357	0.0:1.0:0.0:0.0	.	327;327;327;327	A8K141;F2Z2R0;Q9UI47-2;Q9UI47	.;.;.;CTNA3_HUMAN	Q	327	ENSP00000389714:R327Q;ENSP00000362849:R327Q;ENSP00000441444:R327Q	ENSP00000362849:R327Q	R	-	2	0	CTNNA3	68610148	1.000000	0.71417	0.995000	0.50966	0.937000	0.57800	6.079000	0.71291	2.753000	0.94483	0.585000	0.79938	CGG		0.517	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	0	NM_013266		10:68940142
USP29	57663	broad.mit.edu	37	19	57642253	57642253	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr19:57642253G>A	ENST00000254181.4	+	4	2664	c.2210G>A	c.(2209-2211)tGt>tAt	p.C737Y	USP29_ENST00000598197.1_Missense_Mutation_p.C737Y	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	737	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CTCCAGCAGTGTATTGAGGAG	0.458																																						ENST00000254181.4		NA																	0				breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85						c.(2209-2211)tGt>tAt		ubiquitin specific peptidase 29							63.0	59.0	60.0					19																	57642253		2203	4300	6503	SO:0001583	missense	0				protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chr19:57642253G>A		CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"""Ubiquitin-specific peptidases"""	18563	protein-coding gene	gene with protein product		609546	"""ubiquitin specific protease 29"""			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.2210G>A	19.37:g.57642253G>A	ENSP00000254181:p.Cys737Tyr	False	False		Somatic	0				USP29_ENST00000598197.1_Missense_Mutation_p.C737Y	p.C737Y	NM_020903.2	NP_065954.1	WXS	Illumina HiSeq	Phase_I	Q9HBJ7	UBP29_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	2664	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	737						Missense_Mutation	SNP	ENST00000254181.4	37	c.2210G>A	CCDS33124.1	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.235668	0.00277	.	.	ENSG00000131864	ENST00000254181	T	0.41400	1.0	2.18	-3.46	0.04767	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	.	.	.	.	T	0.15089	0.0364	N	0.10916	0.065	0.09310	N	1	B	0.21381	0.055	B	0.22386	0.039	T	0.26916	-1.0089	9	0.09084	T	0.74	.	0.5372	0.00638	0.4081:0.1745:0.2268:0.1905	.	737	Q9HBJ7	UBP29_HUMAN	Y	737	ENSP00000254181:C737Y	ENSP00000254181:C737Y	C	+	2	0	USP29	62334065	0.001000	0.12720	0.000000	0.03702	0.039000	0.13416	0.000000	0.12993	-0.815000	0.04346	0.467000	0.42956	TGT		0.458	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1	0			19:57642253
