#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
BAG3	9531	broad.mit.edu	37	10	121436034	121436035	+	Frame_Shift_Ins	INS	-	-	ATATTTTTAATAACTGACTGAAAGTCACAGAAATTGTTTGTAGC			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr10:121436034_121436035insATATTTTTAATAACTGACTGAAAGTCACAGAAATTGTTTGTAGC	ENST00000369085.3	+	4	1274_1275	c.968_969insATATTTTTAATAACTGACTGAAAGTCACAGAAATTGTTTGTAGC	c.(967-972)agtaagfs	p.SK323fs		NM_004281.3	NP_004272.2	O95817	BAG3_HUMAN	BCL2-associated athanogene 3	323					brain development (GO:0007420)|cellular response to mechanical stimulus (GO:0071260)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|negative regulation of apoptotic process (GO:0043066)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|protein folding (GO:0006457)|protein stabilization (GO:0050821)|spinal cord development (GO:0021510)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|Z disc (GO:0030018)				endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	20		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)		AAACCAGAAAGTAAGCCAGGCC	0.465																																						ENST00000369085.3		NA																	0				endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	20						c.(967-972)agtaagfs		BCL2-associated athanogene 3																																				SO:0001589	frameshift_variant	9531				anti-apoptosis|apoptosis|protein folding	cytosol		g.chr10:121436034_121436035insATATTTTTAATAACTGACTGAAAGTCACAGAAATTGTTTGTAGC	AF095193	CCDS7615.1	10q25.2-q26.2	2014-09-17			ENSG00000151929	ENSG00000151929			939	protein-coding gene	gene with protein product		603883				9873016, 18094623	Standard	XM_005270287		Approved		uc001lem.3	O95817	OTTHUMG00000019155	Exception_encountered	10.37:g.121436034_121436035insATATTTTTAATAACTGACTGAAAGTCACAGAAATTGTTTGTAGC	ENSP00000358081:p.Ser323fs	False	False		Somatic	0					p.SK323fs	NM_004281.3	NP_004272.2	WXS	Illumina HiSeq	Phase_I	O95817	BAG3_HUMAN		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)	4	1274_1275	+		Lung NSC(174;0.109)|all_lung(145;0.142)	323					A8K5L8|Q3B763|Q9NT20|Q9P120	Frame_Shift_Ins	INS	ENST00000369085.3	37	c.968_969insATATTTTTAATAACTGACTGAAAGTCACAGAAATTGTTTGTAGC	CCDS7615.1																																																																																				0.465	BAG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050662.1	0	NM_004281		10:121436034
PPFIA1	8500	broad.mit.edu	37	11	70202344	70202345	+	Frame_Shift_Ins	INS	-	-	AGCATGACAAAGCTCTATGTTTTCATAAATAGGCAGATGAATATTTGCAG			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr11:70202344_70202345insAGCATGACAAAGCTCTATGTTTTCATAAATAGGCAGATGAATATTTGCAG	ENST00000253925.7	+	19	2781_2782	c.2566_2567insAGCATGACAAAGCTCTATGTTTTCATAAATAGGCAGATGAATATTTGCAG	c.(2566-2568)cgtfs	p.R856fs	AP000487.4_ENST00000324630.5_RNA|PPFIA1_ENST00000389547.3_Frame_Shift_Ins_p.R856fs|AP000487.6_ENST00000528607.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	856					cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			TGAAAAAAATCGTAAACTTCAA	0.401																																						ENST00000253925.7		NA																	0				breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65						c.(2566-2568)cgtfs		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1																																				SO:0001589	frameshift_variant	8500				cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity	g.chr11:70202344_70202345insAGCATGACAAAGCTCTATGTTTTCATAAATAGGCAGATGAATATTTGCAG	U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"""Sterile alpha motif (SAM) domain containing"""	9245	protein-coding gene	gene with protein product	"""Liprin-alpha1"""	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	Exception_encountered	11.37:g.70202344_70202345insAGCATGACAAAGCTCTATGTTTTCATAAATAGGCAGATGAATATTTGCAG	ENSP00000253925:p.Arg856fs	False	False		Somatic	0				PPFIA1_ENST00000389547.3_Frame_Shift_Ins_p.R856fs|AP000487.6_ENST00000528607.1_RNA	p.R856fs	NM_003626.3	NP_003617.1	WXS	Illumina HiSeq	Phase_I	Q13136	LIPA1_HUMAN	BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)		19	2781_2782	+			856					A6NLE3|Q13135|Q14567|Q8N4I2	Frame_Shift_Ins	INS	ENST00000253925.7	37	c.2566_2567insAGCATGACAAAGCTCTATGTTTTCATAAATAGGCAGATGAATATTTGCAG	CCDS31627.1																																																																																				0.401	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393905.1	0	NM_003626		11:70202344
KIAA1033	23325	broad.mit.edu	37	12	105558036	105558037	+	Frame_Shift_Ins	INS	-	-	AAGGTTAAATTACAGTGAGTACAGAAGTGGTATTCTACTC	rs61733563	byFrequency	TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:105558036_105558037insAAGGTTAAATTACAGTGAGTACAGAAGTGGTATTCTACTC	ENST00000332180.5	+	31	3392_3393	c.3305_3306insAAGGTTAAATTACAGTGAGTACAGAAGTGGTATTCTACTC	c.(3304-3309)ctcttafs	p.-1101fs	KIAA1033_ENST00000547171.1_3'UTR	NM_015275.1	NP_056090.1			KIAA1033											breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						GATGAAAAACTCTTACAAACCA	0.421																																						ENST00000332180.5		NA																	0				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						c.(3304-3309)ctcttafs		KIAA1033																																				SO:0001589	frameshift_variant	23325				endosome transport	WASH complex		g.chr12:105558036_105558037insAAGGTTAAATTACAGTGAGTACAGAAGTGGTATTCTACTC	AB028956	CCDS41826.1, CCDS73514.1	12q24.11	2014-05-09				ENSG00000136051			29174	protein-coding gene	gene with protein product		615748				20376207, 20498093, 21498477	Standard	XM_005268742		Approved	SWIP	uc001tld.3	Q2M389		Exception_encountered	12.37:g.105558036_105558037insAAGGTTAAATTACAGTGAGTACAGAAGTGGTATTCTACTC	ENSP00000328062:p.Lys1101fs	False	False		Somatic	0				KIAA1033_ENST00000547171.1_3'UTR	p.-1101fs	NM_015275.1	NP_056090.1	WXS	Illumina HiSeq	Phase_I	Q2M389	WAHS7_HUMAN			31	3392_3393	+			NA						Frame_Shift_Ins	INS	ENST00000332180.5	37	c.3305_3306insAAGGTTAAATTACAGTGAGTACAGAAGTGGTATTCTACTC	CCDS41826.1																																																																																				0.421	KIAA1033-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406138.4	0	NM_015275		12:105558036
TYRO3	7301	broad.mit.edu	37	15	41860561	41860562	+	Splice_Site	INS	-	-	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr15:41860561_41860562insA	ENST00000263798.3	+	8	1331		c.e8+1		TYRO3_ENST00000559066.1_Splice_Site	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase						apoptotic cell clearance (GO:0043277)|cell adhesion (GO:0007155)|forebrain cell migration (GO:0021885)|natural killer cell differentiation (GO:0001779)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|neuron cellular homeostasis (GO:0070050)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein autophosphorylation (GO:0046777)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		TGGAACCCAGGTAAGACAGAAC	0.53																																						ENST00000263798.3		NA																	0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43						c.e8+1		TYRO3 protein tyrosine kinase																																				SO:0001630	splice_region_variant	7301					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr15:41860561_41860562insA	D50479	CCDS10080.1	15q15.1-q21.1	2013-02-11			ENSG00000092445	ENSG00000092445	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12446	protein-coding gene	gene with protein product		600341		RSE		7851890	Standard	NM_006293		Approved	Dtk, Brt, Tif, Sky	uc001zof.2	Q06418	OTTHUMG00000130341	ENST00000263798.3:c.1107+1->A	15.37:g.41860561_41860562insA		False	False		Somatic	0				TYRO3_ENST00000559066.1_Splice_Site		NM_006293.3	NP_006284.2	WXS	Illumina HiSeq	Phase_I	Q06418	TYRO3_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)	8	1331	+		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)	NA					O14953|Q86VR3	Splice_Site	INS	ENST00000263798.3	37		CCDS10080.1																																																																																				0.530	TYRO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252693.2	0		Intron	15:41860561
ASPM	259266	broad.mit.edu	37	1	197091099	197091100	+	Frame_Shift_Ins	INS	-	-	GCATTATTAAGATAAATTT			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:197091099_197091100insGCATTATTAAGATAAATTT	ENST00000367409.4	-	16	4071_4072	c.3815_3816insAAATTTATCTTAATAATGC	c.(3814-3816)ctcfs	p.-1272fs	ASPM_ENST00000294732.7_Frame_Shift_Ins_p.-1272fs|ASPM_ENST00000367408.1_Frame_Shift_Ins_p.-522fs	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)						developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTGTTTGTATGAGTCGAGCAGC	0.322																																						ENST00000367409.4		NA																	0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(3814-3816)ctcfs		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)																																				SO:0001589	frameshift_variant	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197091099_197091100insGCATTATTAAGATAAATTT	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.3815_3816insAAATTTATCTTAATAATGC	1.37:g.197091099_197091100insGCATTATTAAGATAAATTT	ENSP00000356379:p.Leu1272fs	False	False		Somatic	0				ASPM_ENST00000294732.7_Frame_Shift_Ins_p.-1272fs|ASPM_ENST00000367408.1_Frame_Shift_Ins_p.-522fs	p.-1272fs	NM_018136.4	NP_060606.3	WXS	Illumina HiSeq	Phase_I	Q8IZT6	ASPM_HUMAN			16	4071_4072	-			NA					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Frame_Shift_Ins	INS	ENST00000367409.4	37	c.3815_3816insAAATTTATCTTAATAATGC	CCDS1389.1																																																																																				0.322	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	0	NM_018136		1:197091099
PEX12	5193	broad.mit.edu	37	17	33902992	33902993	+	Frame_Shift_Del	DEL	AG	AG	-	rs398123301|rs61752110|rs61752111		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	AG	AG	-	-	AG	AG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr17:33902992_33902993delAG	ENST00000225873.4	-	3	1495_1496	c.888_889delCT	c.(886-891)ctcttafs	p.LL296fs	SNORD7_ENST00000384567.1_RNA|RP11-1094M14.11_ENST00000592381.1_lincRNA	NM_000286.2	NP_000277.1	O00623	PEX12_HUMAN	peroxisomal biogenesis factor 12	296					peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	integral component of peroxisomal membrane (GO:0005779)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ATTTTGGGTAAGAGGGGAGAAT	0.47																																						ENST00000225873.4		NA																	0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18	GRCh37	CD982877	PEX12	D		c.(886-891)ctcttafs		peroxisomal biogenesis factor 12				20,4244		10,0,2122				http://www.ncbi.nlm.nih.gov/sites/varvu?gene		5.4	0.6		dbSNP_129	190	6,8246		2,2,4122	no	frameshift	PEX12	NM_000286.2		12,2,6244	A1A1,A1R,RR		0.0727,0.469,0.2077				26,12490				SO:0001589	frameshift_variant	5193				protein import into peroxisome matrix	integral to peroxisomal membrane	protein C-terminus binding|zinc ion binding	g.chr17:33902992_33902993delAG	U91521	CCDS11296.1	17q21.1	2011-02-10			ENSG00000108733	ENSG00000108733			8854	protein-coding gene	gene with protein product		601758				9090384	Standard	NM_000286		Approved		uc002hjp.3	O00623	OTTHUMG00000132951	ENST00000225873.4:c.888_889delCT	17.37:g.33902994_33902995delAG	ENSP00000225873:p.Leu296fs	False	False		Somatic	2					p.LL296fs	NM_000286.2	NP_000277.1	WXS	Illumina HiSeq	Phase_I	O00623	PEX12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	3	1495_1496	-			296					B2R6M2	Frame_Shift_Del	DEL	ENST00000225873.4	37	c.888_889delCT	CCDS11296.1																																																																																				0.470	PEX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256489.2	0	NM_000286		17:33902992
NLRP2	55655	broad.mit.edu	37	19	55494630	55494632	+	In_Frame_Del	DEL	GAA	GAA	-	rs3745905|rs386811006|rs61735083	byFrequency	TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	GAA	GAA	-	-	GAA	GAA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:55494630_55494632delGAA	ENST00000543010.1	+	6	1707_1709	c.1564_1566delGAA	c.(1564-1566)gaadel	p.E523del	NLRP2_ENST00000339757.7_In_Frame_Del_p.E501del|NLRP2_ENST00000427260.2_In_Frame_Del_p.E500del|NLRP2_ENST00000538819.1_In_Frame_Del_p.E499del|NLRP2_ENST00000263437.6_In_Frame_Del_p.E520del|NLRP2_ENST00000537859.1_In_Frame_Del_p.E501del|NLRP2_ENST00000391721.4_In_Frame_Del_p.E499del|NLRP2_ENST00000448584.2_In_Frame_Del_p.E523del	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	523	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.|Poly-Glu.				positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GAAGGAGGAGGAAGAGGATAGGG	0.567																																						ENST00000543010.1		NA																	0				large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11						c.(1564-1566)gaadel		NLR family, pyrin domain containing 2																																				SO:0001651	inframe_deletion	55655				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	g.chr19:55494630_55494632delGAA	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"""Nucleotide-binding domain and leucine rich repeat containing"""	22948	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"""	609364	"""NACHT, leucine rich repeat and PYD containing 2"""	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.1564_1566delGAA	19.37:g.55494630_55494632delGAA	ENSP00000445135:p.Glu523del	True	False		Somatic	1				NLRP2_ENST00000538819.1_In_Frame_Del_p.E499del|NLRP2_ENST00000537859.1_In_Frame_Del_p.E501del|NLRP2_ENST00000427260.2_In_Frame_Del_p.E500del|NLRP2_ENST00000391721.4_In_Frame_Del_p.E499del|NLRP2_ENST00000263437.6_In_Frame_Del_p.E520del|NLRP2_ENST00000448584.2_In_Frame_Del_p.E523del|NLRP2_ENST00000339757.7_In_Frame_Del_p.E501del	p.E523del	NM_001174081.1	NP_001167552.1	WXS	Illumina HiSeq	Phase_I	Q9NX02	NALP2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	6	1707_1709	+			523			NACHT.|Poly-Glu.		B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	In_Frame_Del	DEL	ENST00000543010.1	37	c.1564_1566delGAA	CCDS12913.1																																																																																				0.567	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	0	NM_017852		19:55494630
PHF21B	112885	broad.mit.edu	37	22	45309889	45309935	+	Frame_Shift_Del	DEL	GGGGTGAGGGGAAGAGAGGAGGGGTGGAGGGGACAGTGATGGGTTGC	GGGGTGAGGGGAAGAGAGGAGGGGTGGAGGGGACAGTGATGGGTTGC	-	rs151004825|rs541621847|rs573595438|rs141049002|rs376753808	byFrequency	TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	GGGGTGAGGGGAAGAGAGGAGGGGTGGAGGGGACAGTGATGGGTTGC	GGGGTGAGGGGAAGAGAGGAGGGGTGGAGGGGACAGTGATGGGTTGC	-	-	GGGGTGAGGGGAAGAGAGGAGGGGTGGAGGGGACAGTGATGGGTTGC	GGGGTGAGGGGAAGAGAGGAGGGGTGGAGGGGACAGTGATGGGTTGC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr22:45309889_45309935delGGGGTGAGGGGAAGAGAGGAGGGGTGGAGGGGACAGTGATGGGTTGC	ENST00000313237.5	-	5	748_794	c.598_644delGCAACCCATCACTGTCCCCTCCACCCCTCCTCTCTTCCCCTCACCCC	c.(598-645)gcaacccatcactgtcccctccacccctcctctcttcccctcacccctfs	p.ATHHCPLHPSSLPLTP200fs	PHF21B_ENST00000404079.2_Intron|PHF21B_ENST00000396103.3_Intron|PHF21B_ENST00000403565.1_Intron|PHF21B_ENST00000447824.3_Intron	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	200							zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		tggggagggaggggtgaggggaagagaggaggggtggaggggacagtgatgggttgcggggtgaggg	0.644																																						ENST00000313237.5		NA																	0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25						c.(598-645)gcaacccatcactgtcccctccacccctcctctcttcccctcacccctfs		PHD finger protein 21B																																				SO:0001589	frameshift_variant	112885						zinc ion binding	g.chr22:45309889_45309935delGGGGTGAGGGGAAGAGAGGAGGGGTGGAGGGGACAGTGATGGGTTGC	AK091480	CCDS14061.1, CCDS56234.1, CCDS63504.1	22q13.31	2013-01-28			ENSG00000056487	ENSG00000056487		"""Zinc fingers, PHD-type"""	25161	protein-coding gene	gene with protein product			"""PHD finger protein 4"""	PHF4		12477932	Standard	NM_138415		Approved	BHC80L, FLJ34161	uc011aql.2	Q96EK2	OTTHUMG00000151199	ENST00000313237.5:c.598_644delGCAACCCATCACTGTCCCCTCCACCCCTCCTCTCTTCCCCTCACCCC	22.37:g.45309889_45309935delGGGGTGAGGGGAAGAGAGGAGGGGTGGAGGGGACAGTGATGGGTTGC	ENSP00000324403:p.Ala200fs	True	False		Somatic	1				PHF21B_ENST00000396103.3_Intron|PHF21B_ENST00000447824.3_Intron|PHF21B_ENST00000403565.1_Intron|PHF21B_ENST00000404079.2_Intron	p.ATHHCPLHPSSLPLTP200fs	NM_138415.4	NP_612424.1	WXS	Illumina HiSeq	Phase_I	Q96EK2	PF21B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)	5	748_794	-		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)	200					B0QYW3|B0QYW4|B3KRU4|B7Z4F8|Q5TFL2|Q6ICC0	Frame_Shift_Del	DEL	ENST00000313237.5	37	c.598_644delGCAACCCATCACTGTCCCCTCCACCCCTCCTCTCTTCCCCTCACCCC	CCDS14061.1																																																																																				0.644	PHF21B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321731.2	0	NM_138415		22:45309889
GIGYF2	26058	broad.mit.edu	37	2	233708804	233708806	+	In_Frame_Del	DEL	CAA	CAA	-	rs3816334	byFrequency	TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	CAA	CAA	-	-	CAA	CAA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr2:233708804_233708806delCAA	ENST00000409547.1	+	26	3249_3251	c.2938_2940delCAA	c.(2938-2940)caadel	p.Q984del	GIGYF2_ENST00000409480.1_In_Frame_Del_p.Q1006del|GIGYF2_ENST00000409196.3_In_Frame_Del_p.Q978del|GIGYF2_ENST00000409451.3_In_Frame_Del_p.Q1005del|GIGYF2_ENST00000452341.2_In_Frame_Del_p.T823del|GIGYF2_ENST00000373566.3_In_Frame_Del_p.Q1006del|GIGYF2_ENST00000373563.4_In_Frame_Del_p.Q984del	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	984	Gln-rich.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		gcagcagcagcaacagcaacagc	0.483																																						ENST00000409547.1		NA																	0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63						c.(2938-2940)caadel		GRB10 interacting GYF protein 2																																				SO:0001651	inframe_deletion	26058				cell death		protein binding	g.chr2:233708804_233708806delCAA	U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"""Trinucleotide (CAG) repeat containing"""	11960	protein-coding gene	gene with protein product	"""GYF domain containing 2"""	612003	"""PERQ amino acid rich, with GYF domain 2"", ""PERQ amino acid rich, with GYF domain 3"", ""trinucleotide repeat containing 15"", ""Parkinson disease (autosomal recessive, early onset) 11"""	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.2938_2940delCAA	2.37:g.233708804_233708806delCAA	ENSP00000386537:p.Gln984del	True	False		Somatic	1				GIGYF2_ENST00000373566.3_In_Frame_Del_p.Q1006del|GIGYF2_ENST00000409451.3_In_Frame_Del_p.Q1005del|GIGYF2_ENST00000373563.4_In_Frame_Del_p.Q984del|GIGYF2_ENST00000409480.1_In_Frame_Del_p.Q1006del|GIGYF2_ENST00000452341.2_In_Frame_Del_p.T823del|GIGYF2_ENST00000409196.3_In_Frame_Del_p.Q978del	p.Q984del	NM_015575.3	NP_056390.2	WXS	Illumina HiSeq	Phase_I	Q6Y7W6	PERQ2_HUMAN		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)	26	3249_3251	+		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	984			Gln-rich.		A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	In_Frame_Del	DEL	ENST00000409547.1	37	c.2938_2940delCAA	CCDS33401.1																																																																																				0.483	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	0	NM_001103146		2:233708804
C1QB	713	broad.mit.edu	37	1	22987385	22987438	+	In_Frame_Del	DEL	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	rs544508692|rs148813212		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	-	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:22987385_22987438delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	ENST00000314933.6	+	3	400_453	c.268_321delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	c.(268-321)ggccccaagggccccatgggccctaaaggtggcccaggggcccctggagccccadel	p.GPKGPMGPKGGPGAPGAP90del	C1QB_ENST00000509305.1_In_Frame_Del_p.GPKGPMGPKGGPGAPGAP88del	NM_000491.3	NP_000482.3	P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	90	Collagen-like 2.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|inner ear development (GO:0048839)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|complement component C1 complex (GO:0005602)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGGAAAAGTCGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCAGGCCCCAAAG	0.618																																						ENST00000509305.1		NA																	0				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14						c.(262-315)ggccccaagggccccatgggccctaaaggtggcccaggggcccctggagccccadel		complement component 1, q subcomponent, B chain	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)																																			SO:0001651	inframe_deletion	713				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex		g.chr1:22987385_22987438delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	X03084	CCDS228.1	1p36.3-p34.1	2014-09-17	2006-02-09		ENSG00000173369	ENSG00000173369		"""Complement system"""	1242	protein-coding gene	gene with protein product		120570	"""complement component 1, q subcomponent, beta polypeptide"""			1537612	Standard	XM_005245982		Approved		uc001bgd.3	P02746	OTTHUMG00000002896	ENST00000314933.6:c.268_321delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	1.37:g.22987385_22987438delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	ENSP00000313967:p.Gly90_Pro107del	True	False		Somatic	1				C1QB_ENST00000314933.6_In_Frame_Del_p.GPKGPMGPKGGPGAPGAP90del	p.GPKGPMGPKGGPGAPGAP88del			WXS	Illumina HiSeq	Phase_I	P02746	C1QB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	3	608_661	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	90			Collagen-like 2.		Q5T959|Q96H17	In_Frame_Del	DEL	ENST00000314933.6	37	c.262_315delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	CCDS228.1																																																																																				0.618	C1QB-201	KNOWN	basic|CCDS	protein_coding	protein_coding		0	NM_000491		1:22987385
LUZP1	7798	broad.mit.edu	37	1	23420152	23420159	+	Frame_Shift_Del	DEL	ATTCAAGT	ATTCAAGT	-	rs553150678		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	ATTCAAGT	ATTCAAGT	-	-	ATTCAAGT	ATTCAAGT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:23420152_23420159delATTCAAGT	ENST00000302291.4	-	4	1397_1404	c.596_603delACTTGAAT	c.(595-603)tacttgaatfs	p.YLN199fs	LUZP1_ENST00000374623.3_Frame_Shift_Del_p.YLN199fs|LUZP1_ENST00000314174.5_Frame_Shift_Del_p.YLN199fs|LUZP1_ENST00000418342.1_Frame_Shift_Del_p.YLN199fs			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	199					artery development (GO:0060840)|neural fold bending (GO:0021503)|ventricular septum development (GO:0003281)	membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		TCTCCTTTTCATTCAAGTATTTTCTCTC	0.351																																						ENST00000302291.4		NA																	0				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31						c.(595-603)tacttgaatfs		leucine zipper protein 1																																				SO:0001589	frameshift_variant	7798					nucleus		g.chr1:23420152_23420159delATTCAAGT	BC051733	CCDS30628.1	1p36	2008-02-05			ENSG00000169641	ENSG00000169641			14985	protein-coding gene	gene with protein product		601422				8812416	Standard	NM_033631		Approved	LUZP	uc010odv.1	Q86V48	OTTHUMG00000003227	ENST00000302291.4:c.596_603delACTTGAAT	1.37:g.23420152_23420159delATTCAAGT	ENSP00000303758:p.Tyr199fs	True	False		Somatic	1				LUZP1_ENST00000418342.1_Frame_Shift_Del_p.YLN199fs|LUZP1_ENST00000314174.5_Frame_Shift_Del_p.YLN199fs|LUZP1_ENST00000374623.3_Frame_Shift_Del_p.YLN199fs	p.YLN199fs			WXS	Illumina HiSeq	Phase_I	Q86V48	LUZP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)	4	1397_1404	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)	199					Q5TH93|Q8N4X3|Q8TEH1	Frame_Shift_Del	DEL	ENST00000302291.4	37	c.596_603delACTTGAAT	CCDS30628.1																																																																																				0.351	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008900.3	0	NM_033631		1:23420152
NUP54	53371	broad.mit.edu	37	4	77053791	77053792	+	Frame_Shift_Ins	INS	-	-	AAAAAGAAAGATTTAGAACTAAACACTCCCCGTAT			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr4:77053791_77053792insAAAAAGAAAGATTTAGAACTAAACACTCCCCGTAT	ENST00000264883.3	-	6	931_932	c.791_792insATACGGGGAGTGTTTAGTTCTAAATCTTTCTTTTT	c.(790-792)catfs	p.H264fs	NUP54_ENST00000342467.6_Frame_Shift_Ins_p.H84fs|NUP54_ENST00000458189.2_Frame_Shift_Ins_p.H84fs|NUP54_ENST00000514987.1_Frame_Shift_Ins_p.H216fs|NUP54_ENST00000515460.1_5'Flank	NM_017426.2	NP_059122.2	Q7Z3B4	NUP54_HUMAN	nucleoporin 54kDa	264	9 X 2 AA repeats of F-G.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein targeting (GO:0006605)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)	nucleocytoplasmic transporter activity (GO:0005487)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						CTTGTTCAAAATGGGCATATAG	0.386																																						ENST00000514987.1		NA																	0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						c.(646-648)catfs		nucleoporin 54kDa																																				SO:0001589	frameshift_variant	53371				carbohydrate metabolic process|glucose transport|mRNA transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleoplasm		g.chr4:77053791_77053792insAAAAAGAAAGATTTAGAACTAAACACTCCCCGTAT	AF157322	CCDS3576.1, CCDS63998.1	4q21.1	2008-07-03	2002-08-29		ENSG00000138750	ENSG00000138750			17359	protein-coding gene	gene with protein product		607607	"""nucleoporin 54kD"""			8707840	Standard	NM_017426		Approved		uc003hjs.3	Q7Z3B4	OTTHUMG00000130098	ENST00000264883.3:c.791_792insATACGGGGAGTGTTTAGTTCTAAATCTTTCTTTTT	4.37:g.77053791_77053792insAAAAAGAAAGATTTAGAACTAAACACTCCCCGTAT	ENSP00000264883:p.His264fs	True	False		Somatic	0				NUP54_ENST00000458189.2_Frame_Shift_Ins_p.H84fs|NUP54_ENST00000342467.6_Frame_Shift_Ins_p.H84fs|NUP54_ENST00000264883.3_Frame_Shift_Ins_p.H264fs	p.H216fs			WXS	Illumina HiSeq	Phase_I	Q7Z3B4	NUP54_HUMAN			5	669_670	-			264			9 X 2 AA repeats of F-G.		B2RCK7|B4DT35|Q96EA7|Q9NVL5|Q9P0I1	Frame_Shift_Ins	INS	ENST00000264883.3	37	c.647_648insATACGGGGAGTGTTTAGTTCTAAATCTTTCTTTTT	CCDS3576.1																																																																																				0.386	NUP54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252402.3	0			4:77053791
GPR6	2830	broad.mit.edu	37	6	110300379	110300435	+	In_Frame_Del	DEL	GCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	GCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	-	rs375711945|rs573522362		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	GCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	GCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	-	-	GCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	GCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr6:110300379_110300435delGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	ENST00000275169.3	+	1	82_138	c.64_120delGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	c.(64-120)gcggcggcggccacagcagcaggggggccggacacgggcgaatggggaccccctgctdel	p.AAAATAAGGPDTGEWGPPA22del	GPR6_ENST00000414000.2_In_Frame_Del_p.AAAATAAGGPDTGEWGPPA37del	NM_005284.3	NP_005275.1	P46095	GPR6_HUMAN	G protein-coupled receptor 6	22	Poly-Ala.				G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		cgaaggagcggcggcggcggccacagcagcaggggggccggACACGGGCGAATGGGGACCCCCTGCTGCGGCGGCTC	0.712																																						ENST00000275169.3		NA																	0				breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18						c.(64-120)gcggcggcggccacagcagcaggggggccggacacgggcgaatggggaccccctgctdel		G protein-coupled receptor 6																																				SO:0001651	inframe_deletion	0					integral to plasma membrane		g.chr6:110300379_110300435delGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT		CCDS5079.1, CCDS69172.1	6q21	2012-08-21				ENSG00000146360		"""GPCR / Class A : Orphans"""	4515	protein-coding gene	gene with protein product		600553				8530049	Standard	NM_001286099		Approved		uc003ptu.3	P46095	OTTHUMG00000015354	ENST00000275169.3:c.64_120delGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	6.37:g.110300379_110300435delGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	ENSP00000275169:p.Ala22_Ala40del	False	False		Somatic	1				GPR6_ENST00000414000.2_In_Frame_Del_p.AAAATAAGGPDTGEWGPPA37del	p.AAAATAAGGPDTGEWGPPA22del	NM_005284.3	NP_005275.1	WXS	Illumina HiSeq	Phase_I	P46095	GPR6_HUMAN		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)	1	82_138	+		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)	22			Poly-Ala.		B4DHS9|J3KQR3|Q17RJ7|Q5SYL0	In_Frame_Del	DEL	ENST00000275169.3	37	c.64_120delGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	CCDS5079.1																																																																																				0.712	GPR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041774.1	0			6:110300379
GLT6D1	360203	broad.mit.edu	37	9	138516323	138516326	+	Frame_Shift_Del	DEL	CATG	CATG	-	rs112815437		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	CATG	CATG	-	-	CATG	CATG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr9:138516323_138516326delCATG	ENST00000371763.1	-	5	701_704	c.448_451delCATG	c.(448-453)catgtgfs	p.HV150fs		NM_182974.2	NP_892019.2	Q7Z4J2	GL6D1_HUMAN	glycosyltransferase 6 domain containing 1	150					carbohydrate metabolic process (GO:0005975)	integral component of membrane (GO:0016021)	transferase activity, transferring hexosyl groups (GO:0016758)			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		AGGCTCTTCACATGCACCAGGGGG	0.564																																						ENST00000371763.1		NA																	0				endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15						c.(448-453)catgtgfs		glycosyltransferase 6 domain containing 1																																				SO:0001589	frameshift_variant	360203				carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups	g.chr9:138516323_138516326delCATG	AY336054	CCDS43900.1	9q34.3	2013-02-22	2004-09-16	2004-09-17	ENSG00000204007	ENSG00000204007		"""Glycosyltransferase family 6 domain containing"""	23671	protein-coding gene	gene with protein product		613699	"""galactosyltransferase family 6 domain containing 1"""	GLTDC1			Standard	NM_182974		Approved		uc010nbd.1	Q7Z4J2	OTTHUMG00000020911	ENST00000371763.1:c.448_451delCATG	9.37:g.138516323_138516326delCATG	ENSP00000360829:p.His150fs	False	False		Somatic	1					p.HV150fs	NM_182974.2	NP_892019.2	WXS	Illumina HiSeq	Phase_I	Q7Z4J2	GL6D1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)	5	701_704	-		Myeloproliferative disorder(178;0.0821)	150						Frame_Shift_Del	DEL	ENST00000371763.1	37	c.448_451delCATG	CCDS43900.1																																																																																				0.564	GLT6D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055005.2	0	NM_182974		9:138516323
EXOSC5	56915	broad.mit.edu	37	19	41903139	41903139	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:41903139G>A	ENST00000221233.4	-	1	245	c.95C>T	c.(94-96)gCc>gTc	p.A32V	CTC-435M10.3_ENST00000540732.1_Intron|CTC-435M10.10_ENST00000598988.1_RNA|CTC-435M10.3_ENST00000604424.1_Intron|BCKDHA_ENST00000457836.2_5'Flank|BCKDHA_ENST00000269980.2_5'Flank|BCKDHA_ENST00000595085.1_Intron|EXOSC5_ENST00000596905.1_Missense_Mutation_p.A32V	NM_020158.3	NP_064543.3	Q9NQT4	EXOS5_HUMAN	exosome component 5	32					defense response to virus (GO:0051607)|DNA deamination (GO:0045006)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|transcriptionally active chromatin (GO:0035327)	3'-5'-exoribonuclease activity (GO:0000175)|RNA binding (GO:0003723)			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7						CTGTTCGCAGGCAAAGTGCCG	0.582																																						ENST00000221233.4		NA																	0				endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7						c.(94-96)gCc>gTc		exosome component 5							129.0	122.0	124.0					19																	41903139		2203	4300	6503	SO:0001583	missense	56915				DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|protein binding|RNA binding	g.chr19:41903139G>A	AF285785	CCDS12580.1	19q13.1	2008-02-05				ENSG00000077348			24662	protein-coding gene	gene with protein product	"""exosome component Rrp46"""	606492				11110791, 11812149	Standard	NM_020158		Approved	hRrp46p, Rrp46p, RRP46, RRP41B, MGC12901, p12B	uc002oqo.3	Q9NQT4		ENST00000221233.4:c.95C>T	19.37:g.41903139G>A	ENSP00000221233:p.Ala32Val	False	False		Somatic	0				CTC-435M10.3_ENST00000604424.1_Intron|EXOSC5_ENST00000596905.1_Missense_Mutation_p.A32V|BCKDHA_ENST00000595085.1_Intron|CTC-435M10.3_ENST00000540732.1_Intron	p.A32V	NM_020158.3	NP_064543.3	WXS	Illumina HiSeq	Phase_I	Q9NQT4	EXOS5_HUMAN			1	245	-			32					Q32Q81|Q8NG16|Q96I89	Missense_Mutation	SNP	ENST00000221233.4	37	c.95C>T	CCDS12580.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.819174	0.50633	.	.	ENSG00000077348	ENST00000221233	T	0.63580	-0.05	5.55	4.52	0.55395	Ribosomal protein S5 domain 2-type fold (1);Exoribonuclease, phosphorolytic domain 1 (1);	0.159578	0.53938	N	0.000054	T	0.36963	0.0986	N	0.05351	-0.065	0.38224	D	0.940854	B	0.26547	0.152	B	0.17098	0.017	T	0.32322	-0.9911	10	0.31617	T	0.26	-17.2989	8.2921	0.31963	0.1727:0.0:0.8273:0.0	.	32	Q9NQT4	EXOS5_HUMAN	V	32	ENSP00000221233:A32V	ENSP00000221233:A32V	A	-	2	0	EXOSC5	46594979	0.997000	0.39634	0.992000	0.48379	0.964000	0.63967	2.911000	0.48774	1.579000	0.49836	0.590000	0.80494	GCC		0.582	EXOSC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463492.1	0	NM_020158		19:41903139
MUC13	56667	broad.mit.edu	37	3	124632520	124632520	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:124632520G>A	ENST00000311075.3	-	7	1008	c.970C>T	c.(970-972)Cgg>Tgg	p.R324W		NM_033049.3	NP_149038	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	325	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.|SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	protein homodimerization activity (GO:0042803)	p.R324W(1)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						TAATCACACCGAAGGGTCACT	0.423																																						ENST00000311075.3		NA																	1	Substitution - Missense(1)	p.R324W(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						c.(970-972)Cgg>Tgg		mucin 13, cell surface associated							72.0	68.0	69.0					3																	124632520		2203	4300	6503	SO:0001583	missense	56667					extracellular region|integral to membrane|plasma membrane		g.chr3:124632520G>A	AF286113		3q21.2	2007-01-17	2006-03-14		ENSG00000173702	ENSG00000173702		"""Mucins"""	7511	protein-coding gene	gene with protein product		612181	"""down-regulated in colon cancer 1"", ""mucin 13, epithelial transmembrane"""	DRCC1		11278439	Standard	NM_033049		Approved		uc003ehq.2	Q9H3R2	OTTHUMG00000159484	ENST00000311075.3:c.970C>T	3.37:g.124632520G>A	ENSP00000312235:p.Arg324Trp	False	False		Somatic	0					p.R324W	NM_033049.3	NP_149038	WXS	Illumina HiSeq	Phase_I	Q9H3R2	MUC13_HUMAN			7	1008	-			324			EGF-like 2.		Q6UWD9|Q9NXT5	Missense_Mutation	SNP	ENST00000311075.3	37	c.970C>T		.	.	.	.	.	.	.	.	.	.	G	11.76	1.733931	0.30684	.	.	ENSG00000173702	ENST00000311075	D	0.87491	-2.26	3.93	-4.04	0.04010	.	3.072470	0.01105	N	0.005470	D	0.89329	0.6684	L	0.48642	1.525	0.09310	N	1	D	0.76494	0.999	D	0.71184	0.972	T	0.79112	-0.1937	10	0.66056	D	0.02	0.2081	4.6867	0.12760	0.4045:0.0:0.3619:0.2336	.	324	Q9H3R2	MUC13_HUMAN	W	324	ENSP00000312235:R324W	ENSP00000312235:R324W	R	-	1	2	MUC13	126115210	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.076000	0.11412	-1.421000	0.02007	-2.157000	0.00329	CGG		0.423	MUC13-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000355714.1	0	NM_033049		3:124632520
PCDHB8	56128	broad.mit.edu	37	5	140558339	140558339	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:140558339G>A	ENST00000239444.2	+	1	969	c.724G>A	c.(724-726)Gaa>Aaa	p.E242K	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	242	Cadherin 2. {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)			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TAATGCCCCTGAATTTGAGCA	0.502																																						ENST00000239444.2		NA																	0				NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83						c.(724-726)Gaa>Aaa									204.0	262.0	243.0					5																	140558339		2203	4300	6503	SO:0001583	missense	0				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140558339G>A	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"""Cadherins / Protocadherins : Clustered"""	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.724G>A	5.37:g.140558339G>A	ENSP00000239444:p.Glu242Lys	False	False		Somatic	0					p.E242K	NM_019120.3	NP_061993.2	WXS	Illumina HiSeq	Phase_I	Q9UN66	PCDB8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	969	+			242			Cadherin 2.		B9EGV1	Missense_Mutation	SNP	ENST00000239444.2	37	c.724G>A	CCDS4250.1	.	.	.	.	.	.	.	.	.	.	g	12.50	1.957802	0.34565	.	.	ENSG00000120322	ENST00000239444	T	0.61510	0.1	4.25	1.37	0.22104	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.36054	0.0953	N	0.16266	0.395	0.23126	N	0.998252	B	0.26876	0.162	B	0.27608	0.081	T	0.21211	-1.0252	9	0.25106	T	0.35	.	5.6828	0.17786	0.26:0.1488:0.5912:0.0	.	242	Q9UN66	PCDB8_HUMAN	K	242	ENSP00000239444:E242K	ENSP00000239444:E242K	E	+	1	0	PCDHB8	140538523	0.000000	0.05858	0.995000	0.50966	0.983000	0.72400	0.137000	0.15995	-0.038000	0.13624	0.585000	0.79938	GAA		0.502	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	0	NM_019120		5:140558339
MYT1L	23040	broad.mit.edu	37	2	1982980	1982980	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr2:1982980C>T	ENST00000399161.2	-	8	856	c.109G>A	c.(109-111)Gac>Aac	p.D37N	MYT1L_ENST00000428368.2_Missense_Mutation_p.D37N	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	37					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CCACTGCCGTCACAGCCAGGG	0.512																																						ENST00000399161.2		NA																	0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(109-111)Gac>Aac		myelin transcription factor 1-like							37.0	40.0	39.0					2																	1982980		2196	4297	6493	SO:0001583	missense	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1982980C>T	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.109G>A	2.37:g.1982980C>T	ENSP00000382114:p.Asp37Asn	False	False		Somatic	0				MYT1L_ENST00000428368.2_Missense_Mutation_p.D37N	p.D37N	NM_015025.2	NP_055840.2	WXS	Illumina HiSeq	Phase_I	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	8	856	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	37					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	37	c.109G>A		.	.	.	.	.	.	.	.	.	.	C	20.1	3.935617	0.73442	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.43688	0.94;0.94	5.18	5.18	0.71444	.	0.138574	0.46442	D	0.000293	T	0.52517	0.1739	N	0.24115	0.695	0.58432	D	0.999996	D;D	0.69078	0.997;0.996	D;D	0.77004	0.989;0.981	T	0.55749	-0.8092	10	0.51188	T	0.08	-38.9835	18.6852	0.91560	0.0:1.0:0.0:0.0	.	37;37	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	N	37	ENSP00000382114:D37N;ENSP00000396103:D37N	ENSP00000295067:D37N	D	-	1	0	MYT1L	1961987	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	6.604000	0.74150	2.405000	0.81733	0.655000	0.94253	GAC		0.512	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	0	NM_015025		2:1982980
FAM170A	340069	broad.mit.edu	37	5	118965470	118965470	+	Nonsense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:118965470C>T	ENST00000515256.1	+	1	179	c.7C>T	c.(7-9)Cga>Tga	p.R3*				A1A519	F170A_HUMAN	family with sequence similarity 170, member A	3					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						TATCATGAAACGACGACAAAA	0.458																																						ENST00000515256.1		NA																	0				breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						c.(7-9)Cga>Tga		family with sequence similarity 170, member A							166.0	163.0	164.0					5																	118965470		1868	4114	5982	SO:0001587	stop_gained	340069					intracellular	zinc ion binding	g.chr5:118965470C>T	AF427126	CCDS43353.1, CCDS54889.1	5q23.1	2008-06-12			ENSG00000164334	ENSG00000164334			27963	protein-coding gene	gene with protein product						12477932	Standard	NM_182761		Approved		uc003ksn.3	A1A519	OTTHUMG00000162946	ENST00000515256.1:c.7C>T	5.37:g.118965470C>T	ENSP00000422684:p.Arg3*	True	False		Somatic	0					p.R3*			WXS	Illumina HiSeq	Phase_I	A1A519	F170A_HUMAN			1	179	+			3					Q66LM8|Q7Z4V2|Q8IW94	Nonsense_Mutation	SNP	ENST00000515256.1	37	c.7C>T		.	.	.	.	.	.	.	.	.	.	C	36	5.799191	0.96960	.	.	ENSG00000164334	ENST00000296787;ENST00000515256;ENST00000509264	.	.	.	4.24	3.36	0.38483	.	0.000000	0.42172	D	0.000747	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.6887	9.5633	0.39383	0.2093:0.7907:0.0:0.0	.	.	.	.	X	3	.	.	R	+	1	2	FAM170A	118993369	0.821000	0.29204	0.659000	0.29680	0.781000	0.44180	1.696000	0.37773	1.368000	0.46115	0.561000	0.74099	CGA		0.458	FAM170A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000371126.1	0	NM_182761		5:118965470
SPATC1L	84221	broad.mit.edu	37	21	47581948	47581948	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr21:47581948G>A	ENST00000291672.5	-	4	1639	c.578C>T	c.(577-579)gCg>gTg	p.A193V	SPATC1L_ENST00000330205.6_Missense_Mutation_p.A39V	NM_001142854.1	NP_001136326.1	Q9H0A9	SPC1L_HUMAN	spermatogenesis and centriole associated 1-like	193																	CACCACGCGCGCGTCCTTCTC	0.697																																						ENST00000291672.5		NA																	0					NA						c.(577-579)gCg>gTg		spermatogenesis and centriole associated 1-like							22.0	18.0	20.0					21																	47581948		2184	4284	6468	SO:0001583	missense	84221							g.chr21:47581948G>A	BC009497	CCDS13732.1, CCDS46653.1	21q22.3	2013-01-21	2012-11-12	2012-11-12	ENSG00000160284	ENSG00000160284			1298	protein-coding gene	gene with protein product	"""speriolin-like protein"""	612412	"""chromosome 21 open reading frame 56"""	C21orf56			Standard	NM_032261		Approved		uc011afu.2	Q9H0A9	OTTHUMG00000090487	ENST00000291672.5:c.578C>T	21.37:g.47581948G>A	ENSP00000291672:p.Ala193Val	True	False		Somatic	0				SPATC1L_ENST00000330205.6_Missense_Mutation_p.A39V	p.A193V	NM_001142854.1	NP_001136326.1	WXS	Illumina HiSeq	Phase_I					4	1639	-			NA					B4E323|Q52LS9|Q6FIH5|Q6P0L3|Q9NSE5	Missense_Mutation	SNP	ENST00000291672.5	37	c.578C>T	CCDS46653.1	.	.	.	.	.	.	.	.	.	.	G	14.10	2.433928	0.43224	.	.	ENSG00000160284	ENST00000330205;ENST00000291672	T;T	0.44482	0.92;1.52	4.1	3.19	0.36642	.	0.295993	0.24231	N	0.040356	T	0.19046	0.0457	N	0.08118	0	0.09310	N	0.999998	P	0.35155	0.487	B	0.19391	0.025	T	0.08617	-1.0713	10	0.48119	T	0.1	-23.1208	10.7349	0.46120	0.0:0.76:0.24:0.0	.	193	Q9H0A9	CU056_HUMAN	V	39;193	ENSP00000333869:A39V;ENSP00000291672:A193V	ENSP00000291672:A193V	A	-	2	0	C21orf56	46406376	0.006000	0.16342	0.896000	0.35187	0.937000	0.57800	1.962000	0.40442	0.684000	0.31448	-0.211000	0.12701	GCG		0.697	SPATC1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376654.1	0	NM_032261		21:47581948
ANKMY1	51281	broad.mit.edu	37	2	241496633	241496633	+	5'UTR	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr2:241496633C>T	ENST00000391987.1	-	0	219				ANKMY1_ENST00000373320.4_5'UTR|ANKMY1_ENST00000536462.1_Intron|ANKMY1_ENST00000361678.4_Silent_p.L40L|ANKMY1_ENST00000406958.1_Silent_p.L40L|ANKMY1_ENST00000403283.1_Silent_p.L119L|ANKMY1_ENST00000272972.3_Intron|ANKMY1_ENST00000405523.3_Silent_p.L40L|ANKMY1_ENST00000401804.1_Silent_p.L40L|ANKMY1_ENST00000373318.2_Silent_p.L40L|ANKMY1_ENST00000405002.1_Intron|DUSP28_ENST00000343217.2_5'Flank|ANKMY1_ENST00000462004.1_Intron	NM_001282771.1	NP_001269700.1	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1								metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		CGTAGTTCTTCAGGGACCCCG	0.677											OREG0015353	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000401804.1		NA																	0				central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30						c.(118-120)ctG>ctA		ankyrin repeat and MYND domain containing 1							45.0	53.0	51.0					2																	241496633		2203	4298	6501	SO:0001623	5_prime_UTR_variant	51281						zinc ion binding	g.chr2:241496633C>T	AB034636	CCDS2535.1, CCDS2536.1, CCDS63184.1, CCDS63185.1, CCDS74681.1	2q37.3	2013-01-10			ENSG00000144504	ENSG00000144504		"""Zinc fingers, MYND-type"", ""Ankyrin repeat domain containing"""	20987	protein-coding gene	gene with protein product							Standard	XM_005247020		Approved	FLJ20499, ZMYND13	uc002vyz.1	Q9P2S6	OTTHUMG00000133355	ENST00000391987.1:c.-148G>A	2.37:g.241496633C>T		False	False		Somatic	0	OREG0015353	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2427	ANKMY1_ENST00000405523.3_Silent_p.L40L|ANKMY1_ENST00000406958.1_Silent_p.L40L|ANKMY1_ENST00000373318.2_Silent_p.L40L|ANKMY1_ENST00000462004.1_Intron|ANKMY1_ENST00000403283.1_Silent_p.L119L|ANKMY1_ENST00000272972.3_Intron|ANKMY1_ENST00000536462.1_Intron|ANKMY1_ENST00000373320.4_5'UTR|ANKMY1_ENST00000391987.1_5'UTR|ANKMY1_ENST00000405002.1_Intron|ANKMY1_ENST00000361678.4_Silent_p.L40L	p.L40L			WXS	Illumina HiSeq	Phase_I	Q9P2S6	ANKY1_HUMAN		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)	2	258	-		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	0					B2RB78|Q4ZFV3|Q8IYX5|Q8NDK5|Q9H0V8|Q9NX10	Silent	SNP	ENST00000391987.1	37	c.120G>A	CCDS2536.1																																																																																				0.677	ANKMY1-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		0	NM_017844		2:241496633
NADSYN1	55191	broad.mit.edu	37	11	71194032	71194032	+	Missense_Mutation	SNP	C	C	T	rs149234649		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr11:71194032C>T	ENST00000319023.2	+	14	1476	c.1288C>T	c.(1288-1290)Cgg>Tgg	p.R430W	NADSYN1_ENST00000539574.1_Missense_Mutation_p.R170W|NADSYN1_ENST00000530055.1_Missense_Mutation_p.R59W|NADSYN1_ENST00000526039.2_3'UTR	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	430	Ligase. {ECO:0000250}.				NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)|NAD+ synthase (glutamine-hydrolyzing) activity (GO:0003952)	p.R430M(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamine(DB00130)	GACGTGCACCCGGGCCAGAGA	0.607																																					Ovarian(79;763 1781 6490 50276)	ENST00000319023.2		NA																	1	Substitution - Missense(1)	p.R430M(1)	lung(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25						c.(1288-1290)Cgg>Tgg		NAD synthetase 1	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	C	TRP/ARG	0,4400		0,0,2200	97.0	87.0	90.0		1288	-1.9	0.0	11	dbSNP_134	90	3,8585	3.0+/-9.4	0,3,4291	yes	missense	NADSYN1	NM_018161.4	101	0,3,6491	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging	430/707	71194032	3,12985	2200	4294	6494	SO:0001583	missense	55191				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding	g.chr11:71194032C>T	AB091316	CCDS8201.1	11q13.4	2008-02-05				ENSG00000172890			29832	protein-coding gene	gene with protein product		608285				12547821	Standard	NM_018161		Approved	FLJ10631	uc001oqn.3	Q6IA69		ENST00000319023.2:c.1288C>T	11.37:g.71194032C>T	ENSP00000326424:p.Arg430Trp	True	False		Somatic	0				NADSYN1_ENST00000526039.2_3'UTR|NADSYN1_ENST00000539574.1_Missense_Mutation_p.R170W|NADSYN1_ENST00000530055.1_Missense_Mutation_p.R59W	p.R430W	NM_018161.4	NP_060631.2	WXS	Illumina HiSeq	Phase_I	Q6IA69	NADE_HUMAN			14	1476	+			430			Ligase (By similarity).		B3KUU4|Q86SN2|Q9HA25|Q9NVM8	Missense_Mutation	SNP	ENST00000319023.2	37	c.1288C>T	CCDS8201.1	.	.	.	.	.	.	.	.	.	.	C	13.99	2.400419	0.42613	0.0	3.49E-4	ENSG00000172890	ENST00000319023;ENST00000539574;ENST00000529840;ENST00000530055	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	4.06	-1.88	0.07713	NAD/GMP synthase (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	T	0.69061	0.3069	H	0.94808	3.585	0.49798	D	0.999826	D;D	0.89917	1.0;1.0	D;D	0.91635	0.977;0.999	T	0.73780	-0.3875	10	0.87932	D	0	-26.347	12.5193	0.56050	0.3856:0.6144:0.0:0.0	.	170;430	B3KUU4;Q6IA69	.;NADE_HUMAN	W	430;170;59;59	ENSP00000326424:R430W;ENSP00000443718:R170W;ENSP00000437172:R59W;ENSP00000431820:R59W	ENSP00000326424:R430W	R	+	1	2	NADSYN1	70871680	0.927000	0.31430	0.007000	0.13788	0.216000	0.24613	0.660000	0.25009	-0.610000	0.05716	-0.397000	0.06425	CGG		0.607	NADSYN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394356.1	0	NM_018161		11:71194032
ZCCHC11	23318	broad.mit.edu	37	1	52927392	52927392	+	Missense_Mutation	SNP	C	C	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:52927392C>A	ENST00000371544.3	-	17	3381	c.3119G>T	c.(3118-3120)aGa>aTa	p.R1040I	ZCCHC11_ENST00000257177.4_Missense_Mutation_p.R1040I|ZCCHC11_ENST00000371541.1_5'Flank	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	1040					cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						ACCTGGATGTCTCTTAAGAAT	0.214																																						ENST00000371544.3		NA																	0				NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(3118-3120)aGa>aTa		zinc finger, CCHC domain containing 11							10.0	10.0	10.0					1																	52927392		2093	4183	6276	SO:0001583	missense	23318				miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding	g.chr1:52927392C>A	D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"""Zinc fingers, CCHC domain containing"""	28981	protein-coding gene	gene with protein product	"""TUTase4"""	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.3119G>T	1.37:g.52927392C>A	ENSP00000360599:p.Arg1040Ile	False	False		Somatic	0				ZCCHC11_ENST00000257177.4_Missense_Mutation_p.R1040I	p.R1040I	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	WXS	Illumina HiSeq	Phase_I	Q5TAX3	TUT4_HUMAN			17	3381	-			1040					A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Missense_Mutation	SNP	ENST00000371544.3	37	c.3119G>T	CCDS30716.1	.	.	.	.	.	.	.	.	.	.	C	18.81	3.703685	0.68501	.	.	ENSG00000134744	ENST00000257177;ENST00000371544;ENST00000528642;ENST00000484723	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	5.45	4.53	0.55603	Nucleotidyl transferase domain (1);	0.053333	0.64402	D	0.000001	T	0.49712	0.1573	L	0.49640	1.575	0.80722	D	1	B;D	0.63046	0.112;0.992	B;D	0.67382	0.18;0.951	T	0.53201	-0.8472	10	0.56958	D	0.05	.	3.6343	0.08143	0.229:0.5995:0.0:0.1715	.	799;1040	E9PKX1;Q5TAX3	.;TUT4_HUMAN	I	1040;1040;969;799	ENSP00000257177:R1040I;ENSP00000360599:R1040I;ENSP00000433486:R969I;ENSP00000435256:R799I	ENSP00000257177:R1040I	R	-	2	0	ZCCHC11	52699980	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.468000	0.60162	2.550000	0.86006	0.585000	0.79938	AGA		0.214	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1	0	XM_038288		1:52927392
CADM4	199731	broad.mit.edu	37	19	44131875	44131875	+	Silent	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:44131875G>A	ENST00000222374.2	-	2	180	c.132C>T	c.(130-132)tgC>tgT	p.C44C	CADM4_ENST00000593506.1_5'Flank	NM_145296.1	NP_660339.1	Q8NFZ8	CADM4_HUMAN	cell adhesion molecule 4	44	Ig-like V-type.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	12		Prostate(69;0.0199)				GGTGCAGACGGCAGGTGATCT	0.562																																						ENST00000222374.2		NA																	0				endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	12						c.(130-132)tgC>tgT		cell adhesion molecule 4							261.0	220.0	234.0					19																	44131875		2203	4300	6503	SO:0001819	synonymous_variant	199731				cell adhesion	integral to membrane		g.chr19:44131875G>A	AF363368	CCDS12627.1	19q13.32	2013-01-29	2007-02-07	2007-02-07		ENSG00000105767		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	30825	protein-coding gene	gene with protein product	"""nectin-like 4"""	609744	"""immunoglobulin superfamily, member 4C"""	IGSF4C		11536053	Standard	NM_145296		Approved	TSLL2, Necl-4, SynCAM4	uc002oxc.1	Q8NFZ8		ENST00000222374.2:c.132C>T	19.37:g.44131875G>A		False	False		Somatic	0					p.C44C	NM_145296.1	NP_660339.1	WXS	Illumina HiSeq	Phase_I	Q8NFZ8	CADM4_HUMAN			2	180	-		Prostate(69;0.0199)	44			Ig-like V-type.		B2R7L5|Q9Y4A4	Silent	SNP	ENST00000222374.2	37	c.132C>T	CCDS12627.1																																																																																				0.562	CADM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463352.1	0	NM_145296		19:44131875
HMCN1	83872	broad.mit.edu	37	1	186120449	186120449	+	Missense_Mutation	SNP	G	G	A	rs148097981		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:186120449G>A	ENST00000271588.4	+	94	14955	c.14726G>A	c.(14725-14727)cGt>cAt	p.R4909H	HMCN1_ENST00000367492.2_Missense_Mutation_p.R4909H	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4909	Nidogen G2 beta-barrel. {ECO:0000255|PROSITE-ProRule:PRU00348}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AGAATAATACGTGCCAAAATT	0.318																																						ENST00000271588.4		NA																	0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(14725-14727)cGt>cAt		hemicentin 1		G	HIS/ARG	0,4406		0,0,2203	111.0	111.0	111.0		14726	-0.3	0.7	1	dbSNP_134	111	4,8596	3.7+/-12.6	0,4,4296	yes	missense	HMCN1	NM_031935.2	29	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	benign	4909/5636	186120449	4,13002	2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186120449G>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.14726G>A	1.37:g.186120449G>A	ENSP00000271588:p.Arg4909His	False	False		Somatic	0				HMCN1_ENST00000367492.2_Missense_Mutation_p.R4909H	p.R4909H	NM_031935.2	NP_114141.2	WXS	Illumina HiSeq	Phase_I	Q96RW7	HMCN1_HUMAN			94	14955	+			4909			Nidogen G2 beta-barrel.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.14726G>A	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	8.309	0.821570	0.16678	0.0	4.65E-4	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.29397	1.57;1.57	5.13	-0.313	0.12754	G2 nidogen/fibulin G2F (2);Green fluorescent protein-like (1);	0.353337	0.33272	N	0.005100	T	0.11452	0.0279	N	0.11201	0.11	0.27937	N	0.937675	B	0.02656	0.0	B	0.04013	0.001	T	0.26326	-1.0106	10	0.13853	T	0.58	.	5.0568	0.14537	0.6639:0.0:0.2126:0.1235	.	4909	Q96RW7	HMCN1_HUMAN	H	4909	ENSP00000271588:R4909H;ENSP00000356462:R4909H	ENSP00000271588:R4909H	R	+	2	0	HMCN1	184387072	1.000000	0.71417	0.714000	0.30535	0.586000	0.36452	3.507000	0.53371	-0.275000	0.09219	-1.311000	0.01308	CGT		0.318	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	0	NM_031935		1:186120449
CHST2	9435	broad.mit.edu	37	3	142841171	142841171	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:142841171G>A	ENST00000309575.3	+	2	2897	c.1513G>A	c.(1513-1515)Gtc>Atc	p.V505I		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	505					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|multicellular organismal development (GO:0007275)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|trans-Golgi network (GO:0005802)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						GCCCATGGCCGTCCTGGGCTA	0.607																																						ENST00000309575.3		NA																	0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						c.(1513-1515)Gtc>Atc		carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2							40.0	44.0	42.0					3																	142841171		2203	4300	6503	SO:0001583	missense	9435				inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr3:142841171G>A	BC042160	CCDS3129.1	3q24	2007-03-14			ENSG00000175040	ENSG00000175040		"""Sulfotransferases, membrane-bound"""	1970	protein-coding gene	gene with protein product		603798				10049591	Standard	NM_004267		Approved	C6ST	uc003evm.3	Q9Y4C5	OTTHUMG00000159351	ENST00000309575.3:c.1513G>A	3.37:g.142841171G>A	ENSP00000307911:p.Val505Ile	False	False		Somatic	0					p.V505I	NM_004267.4	NP_004258.2	WXS	Illumina HiSeq	Phase_I	Q9Y4C5	CHST2_HUMAN			2	2897	+			505					D3DNG5|Q2M370|Q9GZN5|Q9UED5|Q9Y6F2	Missense_Mutation	SNP	ENST00000309575.3	37	c.1513G>A	CCDS3129.1	.	.	.	.	.	.	.	.	.	.	G	10.86	1.469872	0.26423	.	.	ENSG00000175040	ENST00000309575	D	0.96104	-3.91	4.74	4.74	0.60224	.	0.170535	0.38492	N	0.001674	D	0.88912	0.6566	N	0.21194	0.64	0.28804	N	0.898624	B	0.20671	0.047	B	0.17979	0.02	T	0.79019	-0.1974	10	0.36615	T	0.2	-15.204	5.2101	0.15312	0.1725:0.1952:0.6322:0.0	.	505	Q9Y4C5	CHST2_HUMAN	I	505	ENSP00000307911:V505I	ENSP00000307911:V505I	V	+	1	0	CHST2	144323861	0.980000	0.34600	0.704000	0.30370	0.938000	0.57974	1.893000	0.39758	2.443000	0.82685	0.609000	0.83330	GTC		0.607	CHST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354850.1	0	NM_004267		3:142841171
ZNF330	27309	broad.mit.edu	37	4	142150724	142150724	+	Splice_Site	SNP	G	G	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr4:142150724G>T	ENST00000262990.4	+	6	519		c.e6-1		ZNF330_ENST00000421169.2_Splice_Site	NM_014487.4	NP_055302.1	Q9Y3S2	ZN330_HUMAN	zinc finger protein 330							chromosome, centromeric region (GO:0000775)|midbody (GO:0030496)|nucleolus (GO:0005730)	metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	14	all_hematologic(180;0.162)					CTTGGTTACAGGGTGCAATAT	0.428																																						ENST00000262990.4		NA																	0				kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	14						c.e6-1		zinc finger protein 330							364.0	311.0	329.0					4																	142150724		2203	4300	6503	SO:0001630	splice_region_variant	27309					chromosome, centromeric region|midbody|nucleolus	protein binding|zinc ion binding	g.chr4:142150724G>T	AJ006591	CCDS3754.1	4q31.21	2008-05-15			ENSG00000109445	ENSG00000109445		"""Zinc fingers, C2H2-type"""	15462	protein-coding gene	gene with protein product		609550				11528117, 10593942	Standard	NM_001292002		Approved	NOA36, HSA6591	uc003iiq.4	Q9Y3S2	OTTHUMG00000133413	ENST00000262990.4:c.292-1G>T	4.37:g.142150724G>T		True	False		Somatic	0				ZNF330_ENST00000421169.2_Splice_Site		NM_014487.4	NP_055302.1	WXS	Illumina HiSeq	Phase_I	Q9Y3S2	ZN330_HUMAN			6	519	+	all_hematologic(180;0.162)		NA					B2RDA3	Splice_Site	SNP	ENST00000262990.4	37		CCDS3754.1	.	.	.	.	.	.	.	.	.	.	G	19.18	3.778159	0.70107	.	.	ENSG00000109445	ENST00000262990;ENST00000512809;ENST00000503649;ENST00000512738;ENST00000421169	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3437	0.98782	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZNF330	142370174	1.000000	0.71417	1.000000	0.80357	0.603000	0.37013	9.864000	0.99589	2.802000	0.96397	0.563000	0.77884	.		0.428	ZNF330-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257271.2	0	NM_014487	Intron	4:142150724
WISP1	8840	broad.mit.edu	37	8	134233083	134233083	+	Splice_Site	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr8:134233083C>T	ENST00000250160.6	+	3	715	c.609C>T	c.(607-609)ttC>ttT	p.F203F	WISP1_ENST00000519433.1_Intron|WISP1_ENST00000517423.1_Intron|WISP1_ENST00000220856.6_Intron|WISP1_ENST00000377863.2_Intron	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	203					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)		p.F203F(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			CAGGAGCCTTCGGTGGGTGTG	0.632																																						ENST00000250160.6		NA																	1	Substitution - coding silent(1)	p.F203F(1)	large_intestine(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21						c.(607-609)ttC>ttT		WNT1 inducible signaling pathway protein 1							23.0	21.0	22.0					8																	134233083		2183	4282	6465	SO:0001630	splice_region_variant	8840				cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding	g.chr8:134233083C>T	AF100779	CCDS6371.1, CCDS6372.1, CCDS56555.1, CCDS56556.1	8q24.22	2007-05-14			ENSG00000104415	ENSG00000104415			12769	protein-coding gene	gene with protein product		603398				9843955	Standard	NM_003882		Approved	CCN4	uc003yub.3	O95388	OTTHUMG00000164440	ENST00000250160.6:c.610+1C>T	8.37:g.134233083C>T		True	False		Somatic	0				WISP1_ENST00000519433.1_Intron|WISP1_ENST00000220856.6_Intron|WISP1_ENST00000517423.1_Intron|WISP1_ENST00000377863.2_Intron	p.F203F	NM_003882.3	NP_003873.1	WXS	Illumina HiSeq	Phase_I	O95388	WISP1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0107)		3	715	+	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		203					A8KAG6|E7EMM5|Q5JBS6|Q5JBS7|Q5JBS8|Q9HCS3	Splice_Site	SNP	ENST00000250160.6	37	c.609C>T	CCDS6371.1																																																																																				0.632	WISP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378794.2	0	NM_003882	Silent	8:134233083
TP53	7157	broad.mit.edu	37	17	7577022	7577022	+	Nonsense_Mutation	SNP	G	G	A	rs121913344		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr17:7577022G>A	ENST00000269305.4	-	8	1105	c.916C>T	c.(916-918)Cga>Tga	p.R306*	TP53_ENST00000445888.2_Nonsense_Mutation_p.R306*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R306*|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.R306*|TP53_ENST00000420246.2_Nonsense_Mutation_p.R306*|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	306	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.		R -> P (in LFS; germline mutation and in a sporadic cancer; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R306*(133)|p.0?(8)|p.?(3)|p.R306fs*39(2)|p.K305fs*1(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TGCTTACCTCGCTTAGTGCTC	0.562	R306*(HCC1937_BREAST)|R306*(JURLMK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(MFE296_ENDOMETRIUM)|R306*(MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(RCM1_LARGE_INTESTINE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R306*(HCC1937_BREAST)|R306*(JURLMK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(MFE296_ENDOMETRIUM)|R306*(MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(RCM1_LARGE_INTESTINE)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		147	Substitution - Nonsense(133)|Whole gene deletion(8)|Unknown(3)|Deletion - Frameshift(2)|Insertion - Frameshift(1)	p.R306*(133)|p.0?(8)|p.?(3)|p.R306fs*39(2)|p.K305fs*1(1)	large_intestine(39)|breast(21)|upper_aerodigestive_tract(15)|ovary(11)|central_nervous_system(10)|oesophagus(10)|stomach(8)|lung(8)|endometrium(6)|bone(4)|pancreas(3)|haematopoietic_and_lymphoid_tissue(3)|biliary_tract(3)|kidney(2)|NS(2)|urinary_tract(1)|liver(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM971506	TP53	M	rs121913344	c.(916-918)Cga>Tga	Other conserved DNA damage response genes	tumor protein p53							120.0	106.0	110.0					17																	7577022		2203	4300	6503	SO:0001587	stop_gained	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577022G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.916C>T	17.37:g.7577022G>A	ENSP00000269305:p.Arg306*	False	False	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	Somatic	0				TP53_ENST00000359597.4_Nonsense_Mutation_p.R306*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R306*|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Nonsense_Mutation_p.R306*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R306*	p.R306*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	WXS	Illumina HiSeq	Phase_I	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1048	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	306		R -> P (in LFS; germline mutation and in a sporadic cancer; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).	Interaction with CARM1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.916C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.782988	0.90282	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	5.26	3.21	0.36854	.	1.348720	0.05032	N	0.474808	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.4785	0.44678	0.0:0.0:0.6334:0.3666	.	.	.	.	X	306;306;306;306;306;295;174	.	ENSP00000269305:R306X	R	-	1	2	TP53	7517747	1.000000	0.71417	0.970000	0.41538	0.345000	0.29048	2.280000	0.43443	0.735000	0.32537	0.561000	0.74099	CGA		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	0	NM_000546		17:7577022
ZC3H12A	80149	broad.mit.edu	37	1	37948876	37948876	+	Silent	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:37948876C>T	ENST00000373087.6	+	6	1580	c.1464C>T	c.(1462-1464)ggC>ggT	p.G488G		NM_025079.2	NP_079355.2			zinc finger CCCH-type containing 12A											NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTGCCTTTGGCCGGGCCATGG	0.662																																						ENST00000373087.6		NA																	0				NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1462-1464)ggC>ggT		zinc finger CCCH-type containing 12A							62.0	72.0	68.0					1																	37948876		2203	4300	6503	SO:0001819	synonymous_variant	80149				angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding	g.chr1:37948876C>T		CCDS417.1	1p34.3	2012-07-05			ENSG00000163874	ENSG00000163874		"""Zinc fingers, CCCH-type domain containing"""	26259	protein-coding gene	gene with protein product	"""MCP induced protein 1"""	610562				18178554, 22055188	Standard	NM_025079		Approved	FLJ23231, MCPIP1	uc001cbb.4	Q5D1E8	OTTHUMG00000004221	ENST00000373087.6:c.1464C>T	1.37:g.37948876C>T		False	False		Somatic	0					p.G488G	NM_025079.2	NP_079355.2	WXS	Illumina HiSeq	Phase_I	Q5D1E8	ZC12A_HUMAN			6	1580	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	488			Pro-rich.			Silent	SNP	ENST00000373087.6	37	c.1464C>T	CCDS417.1																																																																																				0.662	ZC3H12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012154.2	0	NM_025079		1:37948876
GLTSCR1L	23506	broad.mit.edu	37	6	42832490	42832490	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr6:42832490C>T	ENST00000314073.5	+	13	2722	c.2546C>T	c.(2545-2547)gCa>gTa	p.A849V	GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.A849V			Q6AI39	GSC1L_HUMAN	GLTSCR1-like	849																	GGCAGTAAAGCAAGCAGCTCT	0.512																																						ENST00000314073.5		NA																	0					NA						c.(2545-2547)gCa>gTa		GLTSCR1-like							122.0	102.0	109.0					6																	42832490		2203	4300	6503	SO:0001583	missense	23506							g.chr6:42832490C>T	AL833540	CCDS34451.1	6p21.1	2012-11-29	2012-11-29	2012-11-29	ENSG00000112624	ENSG00000112624			21111	protein-coding gene	gene with protein product			"""KIAA0240"""	KIAA0240			Standard	XM_005248972		Approved		uc003osp.1	Q6AI39	OTTHUMG00000014706	ENST00000314073.5:c.2546C>T	6.37:g.42832490C>T	ENSP00000313933:p.Ala849Val	True	False		Somatic	0				GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.A849V	p.A849V			WXS	Illumina HiSeq	Phase_I					13	2722	+			NA					A1L3W2|Q5TFZ3|Q92514	Missense_Mutation	SNP	ENST00000314073.5	37	c.2546C>T	CCDS34451.1	.	.	.	.	.	.	.	.	.	.	C	9.662	1.144486	0.21288	.	.	ENSG00000112624	ENST00000394167;ENST00000314073;ENST00000394168	T;T	0.43294	0.95;0.95	4.79	3.91	0.45181	.	0.774289	0.12166	N	0.493542	T	0.12774	0.0310	N	0.19112	0.55	0.09310	N	1	B	0.09022	0.002	B	0.12837	0.008	T	0.25467	-1.0131	10	0.40728	T	0.16	0.9563	10.3991	0.44218	0.0:0.8402:0.0:0.1598	.	849	Q6AI39	K0240_HUMAN	V	849	ENSP00000313933:A849V;ENSP00000377723:A849V	ENSP00000313933:A849V	A	+	2	0	KIAA0240	42940468	0.350000	0.24878	0.009000	0.14445	0.466000	0.32739	2.565000	0.45939	1.118000	0.41863	0.655000	0.94253	GCA		0.512	GLTSCR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040562.3	0	NM_015349		6:42832490
FYCO1	79443	broad.mit.edu	37	3	45996750	45996750	+	Missense_Mutation	SNP	G	G	A	rs140583635		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:45996750G>A	ENST00000296137.2	-	14	4140	c.3935C>T	c.(3934-3936)gCg>gTg	p.A1312V	FYCO1_ENST00000438446.1_5'UTR|FYCO1_ENST00000535325.1_Missense_Mutation_p.A1312V	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	1312					plus-end-directed vesicle transport along microtubule (GO:0072383)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		CTGTTCAGCCGCATTTGGGTC	0.498																																						ENST00000296137.2		NA																	0				NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54						c.(3934-3936)gCg>gTg		FYVE and coiled-coil domain containing 1		G	VAL/ALA	0,4406		0,0,2203	176.0	181.0	179.0		3935	3.4	0.2	3	dbSNP_134	179	1,8599	1.2+/-3.3	0,1,4299	no	missense	FYCO1	NM_024513.2	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	1312/1479	45996750	1,13005	2203	4300	6503	SO:0001583	missense	79443				transport	integral to membrane	metal ion binding|protein binding	g.chr3:45996750G>A	AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820		"""Zinc fingers, FYVE domain containing"""	14673	protein-coding gene	gene with protein product		607182				11896456	Standard	NM_024513		Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.3935C>T	3.37:g.45996750G>A	ENSP00000296137:p.Ala1312Val	False	False		Somatic	0				FYCO1_ENST00000438446.1_5'UTR|FYCO1_ENST00000535325.1_Missense_Mutation_p.A1312V	p.A1312V	NM_024513.3	NP_078789.2	WXS	Illumina HiSeq	Phase_I	Q9BQS8	FYCO1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)	14	4140	-			1312					B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Missense_Mutation	SNP	ENST00000296137.2	37	c.3935C>T	CCDS2734.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	0.144|0.144	-1.099395|-1.099395	0.01843|0.01843	0.0|0.0	1.16E-4|1.16E-4	ENSG00000163820|ENSG00000163820	ENST00000296137;ENST00000535325|ENST00000433878	T;T|.	0.20598|.	2.06;2.13|.	5.82|5.82	3.37|3.37	0.38596|0.38596	.|.	1.153750|.	0.06193|.	N|.	0.681750|.	T|T	0.08088|0.08088	0.0202|0.0202	N|N	0.00436|0.00436	-1.5|-1.5	0.09310|0.09310	N|N	1|1	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.01281|.	0.0;0.0|.	T|T	0.32955|0.32955	-0.9887|-0.9887	10|5	0.02654|.	T|.	1|.	-2.141|-2.141	9.5319|9.5319	0.39198|0.39198	0.8598:0.0:0.1402:0.0|0.8598:0.0:0.1402:0.0	.|.	1312;1312|.	B7ZKT7;Q9BQS8|.	.;FYCO1_HUMAN|.	V|W	1312|101	ENSP00000296137:A1312V;ENSP00000441178:A1312V|.	ENSP00000296137:A1312V|.	A|R	-|-	2|1	0|2	FYCO1|FYCO1	45971754|45971754	0.324000|0.324000	0.24652|0.24652	0.162000|0.162000	0.22713|0.22713	0.435000|0.435000	0.31806|0.31806	1.668000|1.668000	0.37481|0.37481	0.435000|0.435000	0.26365|0.26365	-0.285000|-0.285000	0.09966|0.09966	GCG|CGG		0.498	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257320.2	0	NM_024513		3:45996750
ARHGAP33	115703	broad.mit.edu	37	19	36271129	36271129	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:36271129G>A	ENST00000007510.4	+	7	662	c.518G>A	c.(517-519)cGg>cAg	p.R173Q	ARHGAP33_ENST00000314737.5_Missense_Mutation_p.R173Q|ARHGAP33_ENST00000378944.5_Missense_Mutation_p.R37Q			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	173					protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|Rac GTPase activator activity (GO:0030675)	p.R173Q(1)		endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						AATCACGGCCGGCGACTGCTC	0.592																																						ENST00000007510.4		NA																	1	Substitution - Missense(1)	p.R173Q(1)	lung(1)	endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						c.(517-519)cGg>cAg		Rho GTPase activating protein 33							78.0	70.0	73.0					19																	36271129		2203	4300	6503	SO:0001583	missense	115703				cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding	g.chr19:36271129G>A	AY044864	CCDS12477.1, CCDS54254.1	19q13.13	2011-06-29	2010-02-19	2010-02-19		ENSG00000004777		"""Rho GTPase activating proteins"""	23085	protein-coding gene	gene with protein product		614902	"""sorting nexin 26"""	SNX26		12297274, 12461558	Standard	NM_052948		Approved	FLJ39019, TCGAP	uc002obs.2	O14559		ENST00000007510.4:c.518G>A	19.37:g.36271129G>A	ENSP00000007510:p.Arg173Gln	True	False		Somatic	0				ARHGAP33_ENST00000378944.5_Missense_Mutation_p.R37Q|ARHGAP33_ENST00000314737.5_Missense_Mutation_p.R173Q	p.R173Q			WXS	Illumina HiSeq	Phase_I	O14559	RHG33_HUMAN			7	662	+			173					O14552|O14560|Q6ZSP6|Q96CP3|Q9NT23	Missense_Mutation	SNP	ENST00000007510.4	37	c.518G>A		.	.	.	.	.	.	.	.	.	.	G	25.0	4.590020	0.86851	.	.	ENSG00000004777	ENST00000007510;ENST00000314737;ENST00000378944	T;T;T	0.11930	3.08;2.73;3.15	4.84	3.8	0.43715	.	0.305936	0.23487	N	0.047642	T	0.21267	0.0512	L	0.49126	1.545	0.30529	N	0.767663	D;D	0.71674	0.998;0.974	P;P	0.58721	0.844;0.466	T	0.04537	-1.0944	10	0.54805	T	0.06	.	5.6018	0.17357	0.2761:0.0:0.7239:0.0	.	37;173	O14559-10;O14559-11	.;.	Q	173;173;37	ENSP00000007510:R173Q;ENSP00000320038:R173Q;ENSP00000368227:R37Q	ENSP00000007510:R173Q	R	+	2	0	ARHGAP33	40962969	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.552000	0.67281	2.227000	0.72691	0.561000	0.74099	CGG		0.592	ARHGAP33-201	KNOWN	basic	protein_coding	protein_coding		0	NM_052948		19:36271129
GPR156	165829	broad.mit.edu	37	3	119886046	119886046	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:119886046G>A	ENST00000464295.1	-	10	2723	c.2278C>T	c.(2278-2280)Cgg>Tgg	p.R760W	GPR156_ENST00000315843.3_Missense_Mutation_p.R760W|GPR156_ENST00000461057.1_Missense_Mutation_p.R756W			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	760						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled GABA receptor activity (GO:0004965)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		CAGTAGGGCCGGTGGCAGCGG	0.572																																						ENST00000464295.1		NA																	0				breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32						c.(2278-2280)Cgg>Tgg		G protein-coupled receptor 156							92.0	105.0	100.0					3																	119886046		2203	4300	6503	SO:0001583	missense	165829					integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr3:119886046G>A	AF488739	CCDS2997.1, CCDS54629.1	3q13.33	2012-08-21			ENSG00000175697	ENSG00000175697		"""GPCR / Class C : Orphans"""	20844	protein-coding gene	gene with protein product		610464				12591167	Standard	NM_153002		Approved	PGR28, GABABL	uc011bjf.2	Q8NFN8	OTTHUMG00000159406	ENST00000464295.1:c.2278C>T	3.37:g.119886046G>A	ENSP00000417261:p.Arg760Trp	False	False		Somatic	0				GPR156_ENST00000315843.3_Missense_Mutation_p.R760W|GPR156_ENST00000461057.1_Missense_Mutation_p.R756W	p.R760W			WXS	Illumina HiSeq	Phase_I	Q8NFN8	GP156_HUMAN		GBM - Glioblastoma multiforme(114;0.19)	10	2723	-			760					B7ZL66|E9PFZ4|Q14CM1|Q86SN6	Missense_Mutation	SNP	ENST00000464295.1	37	c.2278C>T	CCDS2997.1	.	.	.	.	.	.	.	.	.	.	G	19.69	3.874542	0.72180	.	.	ENSG00000175697	ENST00000464295;ENST00000315843;ENST00000461057	T;T;T	0.63417	-0.04;-0.04;-0.0	4.97	2.03	0.26663	.	0.000000	0.64402	D	0.000008	T	0.67069	0.2854	L	0.34521	1.04	0.58432	D	0.999991	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.62473	-0.6847	9	.	.	.	-23.5143	13.1849	0.59675	0.0:0.0:0.4344:0.5656	.	756;760	E9PFZ4;Q8NFN8	.;GP156_HUMAN	W	760;760;756	ENSP00000417261:R760W;ENSP00000324553:R760W;ENSP00000418758:R756W	.	R	-	1	2	GPR156	121368736	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.382000	0.34374	0.318000	0.23185	0.561000	0.74099	CGG		0.572	GPR156-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355139.1	0	NM_153002		3:119886046
MOCS1	4337	broad.mit.edu	37	6	39881079	39881079	+	Missense_Mutation	SNP	C	C	G			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr6:39881079C>G	ENST00000340692.5	-	6	742	c.739G>C	c.(739-741)Gag>Cag	p.E247Q	MOCS1_ENST00000373175.4_Missense_Mutation_p.E218Q|MOCS1_ENST00000308559.7_Missense_Mutation_p.E247Q|MOCS1_ENST00000373188.2_Missense_Mutation_p.E247Q|MOCS1_ENST00000373195.3_Missense_Mutation_p.E160Q|MOCS1_ENST00000432280.2_Missense_Mutation_p.E218Q|MOCS1_ENST00000425303.2_Missense_Mutation_p.E247Q|MOCS1_ENST00000373186.4_Missense_Mutation_p.E247Q			Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	247	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|molybdopterin synthase complex (GO:0019008)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|cyclic pyranopterin monophosphate synthase activity (GO:0061597)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					GGCATATACTCTATGAAGCGC	0.582																																					NSCLC(84;861 1413 23785 24908 42279)|Melanoma(182;611 2047 9114 11847 26639)	ENST00000373186.4		NA																	0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21						c.(739-741)Gag>Cag		molybdenum cofactor synthesis 1							95.0	81.0	86.0					6																	39881079		2203	4300	6503	SO:0001583	missense	4337				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding	g.chr6:39881079C>G	AJ224328	CCDS4846.1, CCDS43460.1	6p21.2	2012-05-08			ENSG00000124615	ENSG00000124615			7190	protein-coding gene	gene with protein product		603707				9731530, 10053004	Standard	NM_001075098		Approved	MOCOD	uc003opb.3	Q9NZB8	OTTHUMG00000014656	ENST00000340692.5:c.739G>C	6.37:g.39881079C>G	ENSP00000344794:p.Glu247Gln	False	False		Somatic	0				MOCS1_ENST00000425303.2_Missense_Mutation_p.E247Q|MOCS1_ENST00000373175.4_Missense_Mutation_p.E218Q|MOCS1_ENST00000308559.7_Missense_Mutation_p.E247Q|MOCS1_ENST00000373195.3_Missense_Mutation_p.E160Q|MOCS1_ENST00000340692.5_Missense_Mutation_p.E247Q|MOCS1_ENST00000373188.2_Missense_Mutation_p.E247Q|MOCS1_ENST00000432280.2_Missense_Mutation_p.E218Q	p.E247Q	NM_005943.5	NP_005934.2	WXS	Illumina HiSeq	Phase_I	Q9NZB8	MOCS1_HUMAN			5	876	-	Ovarian(28;0.0355)|Colorectal(47;0.196)		247			Molybdenum cofactor biosynthesis protein A.		B3KPT7|B4DTP1|O14940|O14941|O75710|Q5J7W0|Q5TCE1|Q5TCE2|Q5TCE6|Q5TCE9|Q5TCF0|Q5TCF1|Q8N418|Q9NZB7|Q9UEM1	Missense_Mutation	SNP	ENST00000340692.5	37	c.739G>C		.	.	.	.	.	.	.	.	.	.	C	27.1	4.801911	0.90538	.	.	ENSG00000124615	ENST00000373186;ENST00000308559;ENST00000373175;ENST00000373188;ENST00000373195;ENST00000340692;ENST00000425303;ENST00000432280	D;D;D;D;D;D;D;D	0.98060	-4.69;-4.69;-4.69;-4.69;-4.69;-4.69;-4.69;-4.69	4.68	4.68	0.58851	Elongator protein 3/MiaB/NifB (1);Molybdenum cofactor synthesis C-terminal (1);Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.99542	0.9836	H	0.99984	5.225	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.996;0.999;0.998;0.997	D	0.97279	0.9916	9	.	.	.	-29.1172	17.2165	0.86945	0.0:1.0:0.0:0.0	.	247;247;247;247;247	Q9NZB8-2;Q9NZB8-5;Q9NZB8;Q9NZB8-8;Q9NZB8-6	.;.;MOCS1_HUMAN;.;.	Q	247;247;218;247;160;247;247;218	ENSP00000362282:E247Q;ENSP00000309843:E247Q;ENSP00000362270:E218Q;ENSP00000362284:E247Q;ENSP00000362291:E160Q;ENSP00000344794:E247Q;ENSP00000416478:E247Q;ENSP00000410809:E218Q	.	E	-	1	0	MOCS1	39989057	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.783000	0.85696	2.166000	0.68216	0.655000	0.94253	GAG		0.582	MOCS1-005	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000040476.2	0	NM_005943		6:39881079
MIR429	554210	broad.mit.edu	37	1	1104393	1104393	+	lincRNA	SNP	G	G	A	rs375624023		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:1104393G>A	ENST00000606993.1	+	0	0				MIR200A_ENST00000384875.1_RNA|MIR429_ENST00000362106.1_RNA|MIR200B_ENST00000384997.1_RNA																							ACCGCCGGCCGATGGGCGTCT	0.647																																						ENST00000362106.1		NA																	0					NA												0,3134		0,0,1567	34.0	43.0	41.0			4.8	0.9	1		41	1,7163		0,1,3581	no	intergenic				0,1,5148	AA,AG,GG		0.014,0.0,0.0097			1104393	1,10297	1567	3582	5149			0							g.chr1:1104393G>A																													1.37:g.1104393G>A		True	False		Somatic	0						NR_029957.1		WXS	Illumina HiSeq	Phase_I					0	9	+			NA						RNA	SNP	ENST00000606993.1	37																																																																																						0.647	RP11-465B22.8-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000470776.1	0			1:1104393
EGFLAM	133584	broad.mit.edu	37	5	38370412	38370412	+	Missense_Mutation	SNP	A	A	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:38370412A>T	ENST00000354891.3	+	6	906	c.560A>T	c.(559-561)aAg>aTg	p.K187M	EGFLAM_ENST00000322350.5_Missense_Mutation_p.K187M	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	187	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					GATTTCGACAAGAAGTGGACC	0.448																																					Colon(62;485 1295 3347 17454)	ENST00000322350.5		NA																	0				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85						c.(559-561)aAg>aTg		EGF-like, fibronectin type III and laminin G domains							89.0	86.0	87.0					5																	38370412		2203	4300	6503	SO:0001583	missense	133584					cell junction|proteinaceous extracellular matrix|synapse		g.chr5:38370412A>T	AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.560A>T	5.37:g.38370412A>T	ENSP00000346964:p.Lys187Met	False	False		Somatic	0				EGFLAM_ENST00000354891.3_Missense_Mutation_p.K187M	p.K187M	NM_152403.3	NP_689616.2	WXS	Illumina HiSeq	Phase_I	Q63HQ2	EGFLA_HUMAN			6	906	+	all_lung(31;0.000385)		187			Fibronectin type-III 2.		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	ENST00000354891.3	37	c.560A>T	CCDS56363.1	.	.	.	.	.	.	.	.	.	.	A	10.89	1.479053	0.26511	.	.	ENSG00000164318	ENST00000354891;ENST00000322350	T;T	0.57595	0.39;0.39	5.82	0.571	0.17352	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.578369	0.20260	N	0.095883	T	0.31071	0.0785	N	0.17922	0.545	0.45515	D	0.998477	B;B	0.18461	0.014;0.028	B;B	0.13407	0.009;0.008	T	0.06770	-1.0808	10	0.45353	T	0.12	-9.2271	5.5891	0.17291	0.325:0.4351:0.2399:0.0	.	187;187	Q63HQ2;Q63HQ2-2	EGFLA_HUMAN;.	M	187	ENSP00000346964:K187M;ENSP00000313084:K187M	ENSP00000313084:K187M	K	+	2	0	EGFLAM	38406169	1.000000	0.71417	0.897000	0.35233	0.776000	0.43924	0.897000	0.28390	0.462000	0.27095	-0.429000	0.05907	AAG		0.448	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	0	NM_152403		5:38370412
PCDH15	65217	broad.mit.edu	37	10	55570351	55570351	+	Missense_Mutation	SNP	C	C	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr10:55570351C>A	ENST00000373965.2	-	35	4862	c.4468G>T	c.(4468-4470)Gtt>Ttt	p.V1490F	PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.W1506C|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.V1487F|PCDH15_ENST00000395445.1_Missense_Mutation_p.V1490F|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.W1117C	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GCTTCACCAACCACCTCACCA	0.373										HNSCC(58;0.16)																												ENST00000373965.2		NA																	0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(4468-4470)Gtt>Ttt		protocadherin-related 15							180.0	165.0	170.0					10																	55570351		1568	3582	5150	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55570351C>A	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000373965.2:c.4468G>T	10.37:g.55570351C>A	ENSP00000363076:p.Val1490Phe	True	False	HNSCC(58;0.16)	Somatic	0				PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.W1117C|PCDH15_ENST00000395445.1_Missense_Mutation_p.V1490F|PCDH15_ENST00000395438.1_Missense_Mutation_p.W1506C|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.V1487F	p.V1490F	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	WXS	Illumina HiSeq	Phase_I	Q96QU1	PCD15_HUMAN			35	4862	-		Melanoma(3;0.117)|Lung SC(717;0.238)	0					A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000373965.2	37	c.4468G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.19|15.19	2.760384|2.760384	0.49468|0.49468	.|.	.|.	ENSG00000150275|ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395445|ENST00000395438;ENST00000409834	T;T;T|T;T	0.63096|0.58358	0.03;0.14;-0.02|0.38;0.34	6.16|6.16	4.3|4.3	0.51218|0.51218	.|.	.|.	.|.	.|.	.|.	T|T	0.31796|0.31796	0.0808|0.0808	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	B;B;B;B|B	0.34103|0.02656	0.437;0.437;0.437;0.437|0.0	B;B;B;B|B	0.26770|0.04013	0.073;0.073;0.073;0.073|0.001	T|T	0.06698|0.06698	-1.0812|-1.0812	9|9	0.62326|0.45353	D|T	0.03|0.12	.|.	10.6203|10.6203	0.45476|0.45476	0.0:0.7929:0.134:0.0731|0.0:0.7929:0.134:0.0731	.|.	1488;1490;1481;1487|1506	C6ZEF5;A2A3E2;C6ZEF7;C9J4F3|A2A3E3	.;.;.;.|.	F|C	1490;1487;1483;1490|1506;1117	ENSP00000363076:V1490F;ENSP00000410304:V1487F;ENSP00000378832:V1490F|ENSP00000378826:W1506C;ENSP00000386693:W1117C	ENSP00000363076:V1490F|ENSP00000378826:W1506C	V|W	-|-	1|3	0|0	PCDH15|PCDH15	55240357|55240357	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	1.440000|1.440000	0.35024|0.35024	0.907000|0.907000	0.36646|0.36646	0.650000|0.650000	0.86243|0.86243	GTT|TGG		0.373	PCDH15-008	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000291336.1	0	NM_033056		10:55570351
CCDC180	100499483	broad.mit.edu	37	9	100132333	100132333	+	Missense_Mutation	SNP	A	A	G			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr9:100132333A>G	ENST00000357054.1	+	44	5221	c.4286A>G	c.(4285-4287)gAg>gGg	p.E1429G	CCDC180_ENST00000529487.1_Missense_Mutation_p.E1484G|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000395220.1_3'UTR|CCDC180_ENST00000375202.2_Missense_Mutation_p.E1484G			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	1429						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											GGACAGTTCGAGGAACAGCAG	0.542																																						ENST00000375202.2		NA																	0					NA						c.(4450-4452)gAg>gGg		coiled-coil domain containing 180							43.0	47.0	46.0					9																	100132333		2203	4300	6503	SO:0001583	missense	100499483							g.chr9:100132333A>G	AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"""Behcet's Disease Associated Gene 1"""		"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.4286A>G	9.37:g.100132333A>G	ENSP00000349562:p.Glu1429Gly	False	False		Somatic	0				RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000395220.1_3'UTR|CCDC180_ENST00000357054.1_Missense_Mutation_p.E1429G|CCDC180_ENST00000529487.1_Missense_Mutation_p.E1484G	p.E1484G			WXS	Illumina HiSeq	Phase_I					46	5803	+			NA					Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	ENST00000357054.1	37	c.4451A>G		.	.	.	.	.	.	.	.	.	.	A	8.083	0.772887	0.16051	.	.	ENSG00000197816	ENST00000357054;ENST00000375202;ENST00000529487	T;T;T	0.52295	0.67;0.67;0.67	5.31	-0.88	0.10610	.	1.068760	0.07166	N	0.851602	T	0.36744	0.0978	L	0.44542	1.39	0.09310	N	1	B;P	0.44816	0.131;0.844	B;B	0.42798	0.062;0.398	T	0.22556	-1.0213	10	0.23302	T	0.38	0.1363	4.1976	0.10450	0.4657:0.0:0.0953:0.439	.	1623;1429	B7ZMG3;Q9P1Z9	.;CI174_HUMAN	G	1429;1484;1484	ENSP00000349562:E1429G;ENSP00000364348:E1484G;ENSP00000434727:E1484G	ENSP00000349562:E1429G	E	+	2	0	C9orf174	99172154	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.211000	0.09332	-0.311000	0.08754	0.533000	0.62120	GAG		0.542	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		0	NM_020893		9:100132333
PCID2	55795	broad.mit.edu	37	13	113839831	113839831	+	Silent	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr13:113839831G>A	ENST00000337344.4	-	8	587	c.511C>T	c.(511-513)Ctg>Ttg	p.L171L	PCID2_ENST00000493650.1_5'UTR|PCID2_ENST00000246505.5_Silent_p.L225L|PCID2_ENST00000375459.1_Silent_p.L169L|PCID2_ENST00000375477.1_Silent_p.L171L|PCID2_ENST00000375457.2_Silent_p.L169L|PCID2_ENST00000375479.2_Silent_p.L171L	NM_001127202.2	NP_001120674.1	Q5JVF3	PCID2_HUMAN	PCI domain containing 2	171					negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mRNA stability (GO:0043488)|spleen development (GO:0048536)					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			TGGTTCACCAGAAACAGCATG	0.353																																						ENST00000375457.2		NA																	0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20						c.(505-507)Ctg>Ttg		PCI domain containing 2							125.0	122.0	123.0					13																	113839831		2203	4300	6503	SO:0001819	synonymous_variant	55795				negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development		protein binding	g.chr13:113839831G>A	AK002167	CCDS9532.2, CCDS58301.1, CCDS58302.1	13q34	2006-03-31			ENSG00000126226	ENSG00000126226			25653	protein-coding gene	gene with protein product		613713				12477932	Standard	NM_001127203		Approved	FLJ11305	uc031qnm.1	Q5JVF3	OTTHUMG00000017385	ENST00000337344.4:c.511C>T	13.37:g.113839831G>A		True	False		Somatic	0				PCID2_ENST00000375459.1_Silent_p.L169L|PCID2_ENST00000375479.2_Silent_p.L171L|PCID2_ENST00000493650.1_5'UTR|PCID2_ENST00000375477.1_Silent_p.L171L|PCID2_ENST00000337344.4_Silent_p.L171L|PCID2_ENST00000246505.5_Silent_p.L225L	p.L169L	NM_001258213.1	NP_001245142.1	WXS	Illumina HiSeq	Phase_I	Q5JVF3	PCID2_HUMAN	all cancers(43;0.104)		8	1101	-	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	171					A6NK09|Q3ZCX1|Q5TC57|Q5TC58|Q9H7K1|Q9HBZ7|Q9NUK6|Q9NVY1|Q9NW44|Q9NWH3	Silent	SNP	ENST00000337344.4	37	c.505C>T	CCDS9532.2																																																																																				0.353	PCID2-002	KNOWN	alternative_3_UTR|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045897.1	0	NM_018386		13:113839831
LMAN1L	79748	broad.mit.edu	37	15	75116728	75116728	+	Missense_Mutation	SNP	C	C	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr15:75116728C>A	ENST00000309664.5	+	13	1499	c.1360C>A	c.(1360-1362)Ccc>Acc	p.P454T	RP11-414J4.2_ENST00000564823.1_RNA|LMAN1L_ENST00000379709.3_Missense_Mutation_p.P442T|CPLX3_ENST00000395018.4_5'Flank	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	454						integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ACCTGGCCAGCCCCCAAGGGC	0.602																																						ENST00000309664.5		NA																	0				NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1360-1362)Ccc>Acc		lectin, mannose-binding, 1 like							92.0	102.0	99.0					15																	75116728		2197	4295	6492	SO:0001583	missense	79748					ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding	g.chr15:75116728C>A	AF303398	CCDS10270.1	15q24.1	2005-08-05			ENSG00000140506	ENSG00000140506			6632	protein-coding gene	gene with protein product		609548				11255007	Standard	NM_021819		Approved	ERGL, ERGIC-53L	uc002ayt.1	Q9HAT1	OTTHUMG00000142813	ENST00000309664.5:c.1360C>A	15.37:g.75116728C>A	ENSP00000310431:p.Pro454Thr	True	False		Somatic	0				LMAN1L_ENST00000379709.3_Missense_Mutation_p.P442T|RP11-414J4.2_ENST00000564823.1_RNA	p.P454T	NM_021819.2	NP_068591.2	WXS	Illumina HiSeq	Phase_I	Q9HAT1	LMA1L_HUMAN			13	1499	+			454					Q6UWN2	Missense_Mutation	SNP	ENST00000309664.5	37	c.1360C>A	CCDS10270.1	.	.	.	.	.	.	.	.	.	.	C	9.098	1.003432	0.19121	.	.	ENSG00000140506	ENST00000309664;ENST00000379709	T;T	0.45276	1.06;0.9	4.95	-3.18	0.05186	.	4.451500	0.00424	N	0.000078	T	0.27205	0.0667	L	0.29908	0.895	0.09310	N	1	B;B	0.17038	0.02;0.001	B;B	0.19391	0.025;0.002	T	0.05194	-1.0900	10	0.26408	T	0.33	.	1.6489	0.02767	0.1359:0.32:0.1328:0.4113	.	442;454	Q9HAT1-3;Q9HAT1	.;LMA1L_HUMAN	T	454;442	ENSP00000310431:P454T;ENSP00000369031:P442T	ENSP00000310431:P454T	P	+	1	0	LMAN1L	72903781	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.646000	0.05403	-0.565000	0.06061	-1.288000	0.01363	CCC		0.602	LMAN1L-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286397.4	0			15:75116728
RAPGEF3	10411	broad.mit.edu	37	12	48134500	48134500	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:48134500G>A	ENST00000449771.2	-	21	2244	c.2156C>T	c.(2155-2157)gCc>gTc	p.A719V	RAPGEF3_ENST00000405493.2_Missense_Mutation_p.A677V|RAPGEF3_ENST00000548919.1_Missense_Mutation_p.A628V|RAPGEF3_ENST00000171000.4_Missense_Mutation_p.A677V|RAPGEF3_ENST00000549151.1_Missense_Mutation_p.A677V|RP1-197B17.3_ENST00000547799.1_lincRNA|RAPGEF3_ENST00000389212.3_Missense_Mutation_p.A719V			O95398	RPGF3_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	719	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|cell proliferation (GO:0008283)|cellular response to cAMP (GO:0071320)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP catabolic process (GO:0030822)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of stress fiber assembly (GO:0051496)|Rap protein signal transduction (GO:0032486)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		CAGCTCGGTGGCCACCCAGTA	0.652																																						ENST00000405493.2		NA																	0				endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25						c.(2029-2031)gCc>gTc		Rap guanine nucleotide exchange factor (GEF) 3							41.0	50.0	47.0					12																	48134500		2203	4300	6503	SO:0001583	missense	10411				regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity	g.chr12:48134500G>A	AK092448	CCDS31784.1, CCDS41775.1	12q13.1	2006-04-12	2004-03-26		ENSG00000079337	ENSG00000079337			16629	protein-coding gene	gene with protein product	"""exchange protein directly activated by cAMP 1"""	606057	"""RAP guanine-nucleotide-exchange factor (GEF) 3"""			10777494, 9856955	Standard	NM_001098531		Approved	cAMP-GEFI, EPAC, bcm910	uc001rpz.4	O95398	OTTHUMG00000133667	ENST00000449771.2:c.2156C>T	12.37:g.48134500G>A	ENSP00000395708:p.Ala719Val	False	False		Somatic	0				RAPGEF3_ENST00000389212.3_Missense_Mutation_p.A719V|RP1-197B17.3_ENST00000547799.1_lincRNA|RAPGEF3_ENST00000449771.2_Missense_Mutation_p.A719V|RAPGEF3_ENST00000549151.1_Missense_Mutation_p.A677V|RAPGEF3_ENST00000171000.4_Missense_Mutation_p.A677V|RAPGEF3_ENST00000548919.1_Missense_Mutation_p.A628V	p.A677V	NM_001098532.2|NM_006105.5	NP_001092002|NP_006096	WXS	Illumina HiSeq	Phase_I	A8K2G5	A8K2G5_HUMAN		GBM - Glioblastoma multiforme(48;0.0375)	21	2239	-	Lung SC(27;0.192)		677					A8K2G5|E7EQC8|O95634|Q8WVN0	Missense_Mutation	SNP	ENST00000449771.2	37	c.2030C>T	CCDS41775.1	.	.	.	.	.	.	.	.	.	.	G	14.16	2.452324	0.43531	.	.	ENSG00000079337	ENST00000405493;ENST00000449771;ENST00000541821;ENST00000549151;ENST00000171000;ENST00000389211;ENST00000389212;ENST00000397089;ENST00000548919	T;T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46;1.46	3.82	2.9	0.33743	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.148106	0.44688	D	0.000440	T	0.16342	0.0393	N	0.16368	0.405	0.35502	D	0.799909	B	0.33841	0.428	B	0.38106	0.265	T	0.14144	-1.0483	10	0.02654	T	1	.	9.7478	0.40457	0.1057:0.0:0.8943:0.0	.	719	O95398	RPGF3_HUMAN	V	677;719;366;677;677;677;719;682;628	ENSP00000384521:A677V;ENSP00000395708:A719V;ENSP00000448619:A677V;ENSP00000171000:A677V;ENSP00000373864:A719V;ENSP00000448480:A628V	ENSP00000171000:A677V	A	-	2	0	RAPGEF3	46420767	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	1.182000	0.32029	1.870000	0.54199	0.561000	0.74099	GCC		0.652	RAPGEF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257848.1	0	NM_006105		12:48134500
LUZP1	7798	broad.mit.edu	37	1	23418504	23418504	+	Missense_Mutation	SNP	G	G	A	rs146031719	byFrequency	TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:23418504G>A	ENST00000302291.4	-	4	3052	c.2251C>T	c.(2251-2253)Cgg>Tgg	p.R751W	LUZP1_ENST00000374623.3_Missense_Mutation_p.R751W|LUZP1_ENST00000314174.5_Missense_Mutation_p.R751W|LUZP1_ENST00000418342.1_Missense_Mutation_p.R751W			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	751					artery development (GO:0060840)|neural fold bending (GO:0021503)|ventricular septum development (GO:0003281)	membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		GCTCTAGACCGCAACGCCTCT	0.478																																						ENST00000302291.4		NA																	0				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31						c.(2251-2253)Cgg>Tgg		leucine zipper protein 1		G	TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	135.0	143.0	140.0		2251,2251	3.4	1.0	1	dbSNP_134	140	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	LUZP1	NM_001142546.1,NM_033631.3	101,101	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging,probably-damaging	751/1077,751/1077	23418504	2,13004	2203	4300	6503	SO:0001583	missense	7798					nucleus		g.chr1:23418504G>A	BC051733	CCDS30628.1	1p36	2008-02-05			ENSG00000169641	ENSG00000169641			14985	protein-coding gene	gene with protein product		601422				8812416	Standard	NM_033631		Approved	LUZP	uc010odv.1	Q86V48	OTTHUMG00000003227	ENST00000302291.4:c.2251C>T	1.37:g.23418504G>A	ENSP00000303758:p.Arg751Trp	False	False		Somatic	0				LUZP1_ENST00000418342.1_Missense_Mutation_p.R751W|LUZP1_ENST00000374623.3_Missense_Mutation_p.R751W|LUZP1_ENST00000314174.5_Missense_Mutation_p.R751W	p.R751W			WXS	Illumina HiSeq	Phase_I	Q86V48	LUZP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)	4	3052	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)	751					Q5TH93|Q8N4X3|Q8TEH1	Missense_Mutation	SNP	ENST00000302291.4	37	c.2251C>T	CCDS30628.1	.	.	.	.	.	.	.	.	.	.	G	17.73	3.461067	0.63513	2.27E-4	1.16E-4	ENSG00000169641	ENST00000418342;ENST00000374623;ENST00000302291;ENST00000314174	T;T;T;T	0.19105	2.37;2.37;2.37;2.17	5.27	3.37	0.38596	.	0.158849	0.29707	N	0.011415	T	0.19287	0.0463	L	0.57536	1.79	0.28033	N	0.93406	B;B	0.26876	0.083;0.162	B;B	0.21917	0.027;0.037	T	0.12604	-1.0541	10	0.51188	T	0.08	.	7.6254	0.28210	0.0802:0.0:0.6097:0.31	.	751;751	Q86V48-2;Q86V48	.;LUZP1_HUMAN	W	751	ENSP00000393460:R751W;ENSP00000363752:R751W;ENSP00000303758:R751W;ENSP00000313705:R751W	ENSP00000303758:R751W	R	-	1	2	LUZP1	23291091	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	2.382000	0.44345	1.211000	0.43351	0.485000	0.47835	CGG		0.478	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008900.3	0	NM_033631		1:23418504
HMGCR	3156	broad.mit.edu	37	5	74650437	74650437	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:74650437C>T	ENST00000287936.4	+	12	1634	c.1478C>T	c.(1477-1479)tCt>tTt	p.S493F	HMGCR_ENST00000343975.5_Missense_Mutation_p.S493F|HMGCR_ENST00000511206.1_Missense_Mutation_p.S493F	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-CoA reductase	493	Catalytic.				aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|coenzyme A metabolic process (GO:0015936)|isoprenoid biosynthetic process (GO:0008299)|myoblast differentiation (GO:0045445)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|negative regulation of vasodilation (GO:0045908)|negative regulation of wound healing (GO:0061045)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein tetramerization (GO:0051262)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|ubiquinone metabolic process (GO:0006743)|visual learning (GO:0008542)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|peroxisomal membrane (GO:0005778)	coenzyme binding (GO:0050662)|hydroxymethylglutaryl-CoA reductase (NADPH) activity (GO:0004420)|hydroxymethylglutaryl-CoA reductase activity (GO:0042282)|NADPH binding (GO:0070402)			breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Fluvastatin(DB01095)|Lovastatin(DB00227)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	CGTGGTGTATCTATTCGCCGA	0.408																																						ENST00000287936.4		NA																	0				breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20						c.(1477-1479)tCt>tTt		3-hydroxy-3-methylglutaryl-CoA reductase	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)						137.0	118.0	124.0					5																	74650437		2203	4300	6503	SO:0001583	missense	3156				cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding	g.chr5:74650437C>T		CCDS4027.1, CCDS47234.1	5q13.3-q14	2012-10-02	2010-04-30		ENSG00000113161	ENSG00000113161	1.1.1.88, 1.1.1.34		5006	protein-coding gene	gene with protein product	"""hydroxymethylglutaryl-CoA reductase"", ""3-hydroxy-3-methylglutaryl CoA reductase (NADPH)"""	142910	"""3-hydroxy-3-methylglutaryl-Coenzyme A reductase"""				Standard	NM_000859		Approved		uc003kdp.3	P04035	OTTHUMG00000102069	ENST00000287936.4:c.1478C>T	5.37:g.74650437C>T	ENSP00000287936:p.Ser493Phe	False	False		Somatic	0				HMGCR_ENST00000343975.5_Missense_Mutation_p.S493F|HMGCR_ENST00000511206.1_Missense_Mutation_p.S493F	p.S493F	NM_000859.2	NP_000850.1	WXS	Illumina HiSeq	Phase_I	P04035	HMDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	12	1634	+		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)	493			Catalytic.		B7Z3Y9|Q8N190	Missense_Mutation	SNP	ENST00000287936.4	37	c.1478C>T	CCDS4027.1	.	.	.	.	.	.	.	.	.	.	C	16.95	3.263447	0.59431	.	.	ENSG00000113161	ENST00000511206;ENST00000544469;ENST00000287936;ENST00000343975	T;T;T	0.44881	0.91;0.91;0.96	5.14	5.14	0.70334	Hydroxymethylglutaryl-CoA reductase, N-terminal (1);Hydroxymethylglutaryl-CoA reductase, class I/II, substrate-binding (1);	0.166783	0.56097	D	0.000035	T	0.46946	0.1419	L	0.52905	1.665	0.46678	D	0.999152	B;P;B	0.42296	0.215;0.775;0.215	B;B;B	0.43274	0.102;0.414;0.102	T	0.50524	-0.8818	10	0.59425	D	0.04	-18.4228	18.978	0.92745	0.0:1.0:0.0:0.0	.	493;493;493	B2R649;P04035-2;P04035	.;.;HMDH_HUMAN	F	493;424;493;493	ENSP00000426745:S493F;ENSP00000287936:S493F;ENSP00000340816:S493F	ENSP00000287936:S493F	S	+	2	0	HMGCR	74686193	1.000000	0.71417	1.000000	0.80357	0.545000	0.35147	4.270000	0.58896	2.570000	0.86706	0.467000	0.42956	TCT		0.408	HMGCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219877.2	0			5:74650437
SIPA1L1	26037	broad.mit.edu	37	14	72055518	72055518	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr14:72055518C>T	ENST00000555818.1	+	2	1277	c.929C>T	c.(928-930)tCa>tTa	p.S310L	SIPA1L1_ENST00000381232.3_Missense_Mutation_p.S310L|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.S310L	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	310					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CTTGGGAAGTCATCAGATCTT	0.418																																						ENST00000555818.1		NA																	0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78						c.(928-930)tCa>tTa		signal-induced proliferation-associated 1 like 1							66.0	71.0	69.0					14																	72055518		2203	4300	6503	SO:0001583	missense	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72055518C>T	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.929C>T	14.37:g.72055518C>T	ENSP00000450832:p.Ser310Leu	False	False		Somatic	0				SIPA1L1_ENST00000358550.2_Missense_Mutation_p.S310L|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.S310L	p.S310L	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	WXS	Illumina HiSeq	Phase_I	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	2	1277	+			310					J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	ENST00000555818.1	37	c.929C>T	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	C	11.17	1.558807	0.27827	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550	T;T;T	0.43688	0.94;0.94;0.94	6.07	6.07	0.98685	.	0.428174	0.28161	N	0.016373	T	0.46698	0.1406	L	0.39898	1.24	0.80722	D	1	B;P;B	0.37500	0.074;0.597;0.001	B;B;B	0.43990	0.01;0.438;0.001	T	0.15752	-1.0426	10	0.36615	T	0.2	-11.6329	20.6593	0.99626	0.0:1.0:0.0:0.0	.	310;310;310	A6H8W6;O43166-2;O43166	.;.;SI1L1_HUMAN	L	310	ENSP00000370630:S310L;ENSP00000450832:S310L;ENSP00000351352:S310L	ENSP00000351352:S310L	S	+	2	0	SIPA1L1	71125271	0.983000	0.35010	0.378000	0.26068	0.087000	0.18053	2.677000	0.46892	2.885000	0.99019	0.655000	0.94253	TCA		0.418	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	0	NM_015556		14:72055518
MURC	347273	broad.mit.edu	37	9	103340638	103340638	+	Silent	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr9:103340638C>T	ENST00000307584.5	+	1	278	c.213C>T	c.(211-213)gaC>gaT	p.D71D	RN7SKP87_ENST00000364096.1_RNA	NM_001018116.1	NP_001018126.1	Q5BKX8	MURC_HUMAN	muscle-related coiled-coil protein	71					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	Z disc (GO:0030018)				endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)	16		Acute lymphoblastic leukemia(62;0.0461)				TCCAGATTGACCTGTTGAAGC	0.418																																						ENST00000307584.5		NA																	0				endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)	16						c.(211-213)gaC>gaT		muscle-related coiled-coil protein							140.0	148.0	145.0					9																	103340638		2203	4300	6503	SO:0001819	synonymous_variant	347273				cell differentiation|muscle organ development|transcription, DNA-dependent			g.chr9:103340638C>T	BC090888	CCDS35083.1	9q31.1	2014-09-17			ENSG00000170681	ENSG00000170681			33742	protein-coding gene	gene with protein product	"""muscle-restricted coiled-coil protein"""					18508909, 18332105	Standard	NM_001018116		Approved	cavin-4, CAVIN4	uc004bba.3	Q5BKX8	OTTHUMG00000020368	ENST00000307584.5:c.213C>T	9.37:g.103340638C>T		False	False		Somatic	0					p.D71D	NM_001018116.1	NP_001018126.1	WXS	Illumina HiSeq	Phase_I	Q5BKX8	MURC_HUMAN			1	278	+		Acute lymphoblastic leukemia(62;0.0461)	71					B1PRL3|B4DT88	Silent	SNP	ENST00000307584.5	37	c.213C>T	CCDS35083.1																																																																																				0.418	MURC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053419.2	0	NM_001018116		9:103340638
MGAT4C	25834	broad.mit.edu	37	12	86374022	86374022	+	Missense_Mutation	SNP	G	G	A	rs140499591		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:86374022G>A	ENST00000604798.1	-	8	1686	c.482C>T	c.(481-483)gCg>gTg	p.A161V	MGAT4C_ENST00000393205.2_Missense_Mutation_p.A190V|MGAT4C_ENST00000332156.1_Missense_Mutation_p.A161V|MGAT4C_ENST00000548651.1_Missense_Mutation_p.A161V|MGAT4C_ENST00000552808.2_Missense_Mutation_p.A161V|MGAT4C_ENST00000549405.2_Missense_Mutation_p.A161V|MGAT4C_ENST00000552435.2_Intron			Q9UBM8	MGT4C_HUMAN	MGAT4 family, member C	161					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						AATATGGTGCGCAAATTTCTG	0.403																																						ENST00000604798.1		NA																	0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						c.(481-483)gCg>gTg		mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)		G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	93.0	91.0	92.0		482	3.7	0.6	12	dbSNP_134	92	1,8599	1.2+/-3.3	0,1,4299	no	missense	MGAT4C	NM_013244.3	64	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign	161/479	86374022	2,13004	2203	4300	6503	SO:0001583	missense	25834				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr12:86374022G>A		CCDS9030.1	12q21	2014-07-14	2014-07-14		ENSG00000182050	ENSG00000182050		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	30871	protein-coding gene	gene with protein product		607385	"""mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)"""			10570912	Standard	NM_013244		Approved	HGNT-IV-H	uc001tal.4	Q9UBM8	OTTHUMG00000169846	ENST00000604798.1:c.482C>T	12.37:g.86374022G>A	ENSP00000474896:p.Ala161Val	False	False		Somatic	0				MGAT4C_ENST00000332156.1_Missense_Mutation_p.A161V|MGAT4C_ENST00000393205.2_Missense_Mutation_p.A190V|MGAT4C_ENST00000549405.2_Missense_Mutation_p.A161V|MGAT4C_ENST00000552808.2_Missense_Mutation_p.A161V|MGAT4C_ENST00000548651.1_Missense_Mutation_p.A161V|MGAT4C_ENST00000552435.2_Intron	p.A161V			WXS	Illumina HiSeq	Phase_I	Q9UBM8	MGT4C_HUMAN			8	1686	-			161					B4DRH2|Q4G199|Q9UIU5	Missense_Mutation	SNP	ENST00000604798.1	37	c.482C>T	CCDS9030.1	.	.	.	.	.	.	.	.	.	.	G	13.63	2.293358	0.40594	2.27E-4	1.16E-4	ENSG00000182050	ENST00000332156;ENST00000393205;ENST00000549405;ENST00000550460;ENST00000552808;ENST00000548651;ENST00000547225	D;D;D;D;D;D	0.85861	-2.04;-2.04;-2.04;-2.04;-2.04;-2.04	5.58	3.67	0.42095	.	0.272302	0.36134	N	0.002770	D	0.88916	0.6567	M	0.66939	2.045	0.32647	N	0.519858	D;D	0.69078	0.997;0.997	P;P	0.62560	0.904;0.904	D	0.89173	0.3538	10	0.26408	T	0.33	-7.7201	12.7018	0.57038	0.0:0.1257:0.7434:0.1309	.	190;161	B4DRH2;Q9UBM8	.;MGT4C_HUMAN	V	161;190;161;161;161;161;161	ENSP00000331664:A161V;ENSP00000376900:A190V;ENSP00000449022:A161V;ENSP00000446647:A161V;ENSP00000447253:A161V;ENSP00000449172:A161V	ENSP00000331664:A161V	A	-	2	0	MGAT4C	84898153	1.000000	0.71417	0.635000	0.29338	0.003000	0.03518	6.447000	0.73465	1.321000	0.45227	0.655000	0.94253	GCG		0.403	MGAT4C-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406212.2	0	NM_013244		12:86374022
PLEC	5339	broad.mit.edu	37	8	144993374	144993374	+	Missense_Mutation	SNP	G	G	A	rs201438739	byFrequency	TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr8:144993374G>A	ENST00000322810.4	-	32	11195	c.11026C>T	c.(11026-11028)Cgc>Tgc	p.R3676C	PLEC_ENST00000345136.3_Missense_Mutation_p.R3539C|PLEC_ENST00000436759.2_Missense_Mutation_p.R3566C|PLEC_ENST00000356346.3_Missense_Mutation_p.R3525C|PLEC_ENST00000357649.2_Missense_Mutation_p.R3543C|PLEC_ENST00000354589.3_Missense_Mutation_p.R3539C|PLEC_ENST00000354958.2_Missense_Mutation_p.R3517C|PLEC_ENST00000398774.2_Missense_Mutation_p.R3507C|PLEC_ENST00000527096.1_Missense_Mutation_p.R3562C	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3676	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GGCAGAAGGCGCAAGCCCGTC	0.597													G|||	4	0.000798722	0.0	0.0	5008	,	,		16840	0.002		0.0	False		,,,				2504	0.002					ENST00000322810.4		NA																	0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(11026-11028)Cgc>Tgc		plectin							73.0	87.0	83.0					8																	144993374		2053	4201	6254	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144993374G>A	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.11026C>T	8.37:g.144993374G>A	ENSP00000323856:p.Arg3676Cys	False	False		Somatic	0				PLEC_ENST00000356346.3_Missense_Mutation_p.R3525C|PLEC_ENST00000436759.2_Missense_Mutation_p.R3566C|PLEC_ENST00000527096.1_Missense_Mutation_p.R3562C|PLEC_ENST00000345136.3_Missense_Mutation_p.R3539C|PLEC_ENST00000357649.2_Missense_Mutation_p.R3543C|PLEC_ENST00000354958.2_Missense_Mutation_p.R3517C|PLEC_ENST00000398774.2_Missense_Mutation_p.R3507C|PLEC_ENST00000354589.3_Missense_Mutation_p.R3539C	p.R3676C	NM_201380.2	NP_958782.1	WXS	Illumina HiSeq	Phase_I	Q15149	PLEC_HUMAN			32	11195	-			3676			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.11026C>T	CCDS43772.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	2.854	-0.237549	0.05944	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38	4.72	2.67	0.31697	.	0.448841	0.19000	U	0.125371	T	0.36248	0.0960	N	0.03115	-0.41	0.40996	D	0.984897	B;B;B;B;B;B;B;B	0.06786	0.001;0.001;0.001;0.0;0.001;0.001;0.001;0.001	B;B;B;B;B;B;B;B	0.04013	0.0;0.0;0.0;0.0;0.0;0.001;0.0;0.0	T	0.26883	-1.0090	10	0.59425	D	0.04	.	2.1195	0.03723	0.3623:0.0:0.392:0.2457	.	3566;3525;3517;3676;3507;3539;3543;3539	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	C	3539;3543;3539;3507;3676;3517;3525;3566;3562	ENSP00000344848:R3539C;ENSP00000350277:R3543C;ENSP00000346602:R3539C;ENSP00000381756:R3507C;ENSP00000323856:R3676C;ENSP00000347044:R3517C;ENSP00000348702:R3525C;ENSP00000388180:R3566C;ENSP00000434583:R3562C	ENSP00000323856:R3676C	R	-	1	0	PLEC	145065362	0.756000	0.28383	0.916000	0.36221	0.053000	0.15095	2.222000	0.42926	1.111000	0.41721	0.448000	0.29417	CGC		0.597	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	0	NM_000445		8:144993374
DNAJC2	27000	broad.mit.edu	37	7	102960230	102960230	+	Missense_Mutation	SNP	T	T	G			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr7:102960230T>G	ENST00000379263.3	-	11	1395	c.1145A>C	c.(1144-1146)aAa>aCa	p.K382T	PMPCB_ENST00000420236.2_Intron|DNAJC2_ENST00000249270.7_Intron	NM_014377.1	NP_055192.1	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	382					'de novo' cotranslational protein folding (GO:0051083)|chromatin modification (GO:0016568)|DNA replication (GO:0006260)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA biosynthetic process (GO:2000279)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone binding (GO:0042393)|Hsp70 protein binding (GO:0030544)|poly(A) RNA binding (GO:0044822)|ubiquitin binding (GO:0043130)			endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						ATCACAAAGTTTTTCCACTTC	0.353																																						ENST00000379263.3		NA																	0				endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						c.(1144-1146)aAa>aCa		DnaJ (Hsp40) homolog, subfamily C, member 2							209.0	192.0	197.0					7																	102960230		1834	4093	5927	SO:0001583	missense	27000				'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane	chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding	g.chr7:102960230T>G	X98260	CCDS43628.1, CCDS47679.1	7q22-q32	2011-09-02	2008-07-01	2008-07-01	ENSG00000105821	ENSG00000105821		"""Heat shock proteins / DNAJ (HSP40)"""	13192	protein-coding gene	gene with protein product		605502	"""zuotin related factor 1"""	ZRF1		8885239	Standard	NM_001129887		Approved	MPP11, MPHOSPH11, ZUO1, zuotin	uc003vbo.3	Q99543	OTTHUMG00000157202	ENST00000379263.3:c.1145A>C	7.37:g.102960230T>G	ENSP00000368565:p.Lys382Thr	True	False		Somatic	0				DNAJC2_ENST00000249270.7_Intron|PMPCB_ENST00000420236.2_Intron	p.K382T	NM_014377.1	NP_055192.1	WXS	Illumina HiSeq	Phase_I	Q99543	DNJC2_HUMAN			11	1395	-			382					A4VCI0|Q9BVX1	Missense_Mutation	SNP	ENST00000379263.3	37	c.1145A>C	CCDS43628.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.487186	0.84854	.	.	ENSG00000105821	ENST00000379263	T	0.44482	0.92	5.87	5.87	0.94306	.	0.000000	0.85682	U	0.000000	T	0.60495	0.2273	M	0.62723	1.935	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.55289	-0.8164	10	0.20046	T	0.44	-28.1622	16.2853	0.82717	0.0:0.0:0.0:1.0	.	382	Q99543	DNJC2_HUMAN	T	382	ENSP00000368565:K382T	ENSP00000368565:K382T	K	-	2	0	DNAJC2	102747466	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.665000	0.83852	2.236000	0.73375	0.528000	0.53228	AAA		0.353	DNAJC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347891.1	0			7:102960230
NLRP6	171389	broad.mit.edu	37	11	281566	281566	+	Missense_Mutation	SNP	A	A	G			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr11:281566A>G	ENST00000312165.5	+	4	1832	c.1832A>G	c.(1831-1833)gAg>gGg	p.E611G	NLRP6_ENST00000534750.1_Missense_Mutation_p.E611G	NM_138329.1	NP_612202.2	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	611	Poly-Glu.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|regulation of inflammatory response (GO:0050727)|response to bacterium (GO:0009617)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|vasopressin receptor activity (GO:0005000)			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		GAGGAGGAGGAGGGAGAGGAG	0.662																																						ENST00000534750.1		NA																	0				breast(1)|skin(1)|upper_aerodigestive_tract(2)	4						c.(1831-1833)gAg>gGg		NLR family, pyrin domain containing 6							76.0	89.0	84.0					11																	281566		2203	4299	6502	SO:0001583	missense	171389					cytoplasm	ATP binding	g.chr11:281566A>G	AF479748	CCDS7693.1, CCDS60680.1	11p15	2006-12-08	2006-12-08	2006-12-08	ENSG00000174885	ENSG00000174885		"""Nucleotide-binding domain and leucine rich repeat containing"""	22944	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6"""	609650	"""NACHT, leucine rich repeat and PYD containing 6"""	NALP6		12563287, 12019269	Standard	NM_138329		Approved	PYPAF5, PAN3, CLR11.4	uc010qvs.3	P59044	OTTHUMG00000119070	ENST00000312165.5:c.1832A>G	11.37:g.281566A>G	ENSP00000309767:p.Glu611Gly	True	False		Somatic	0				NLRP6_ENST00000312165.5_Missense_Mutation_p.E611G	p.E611G	NM_001276700.1	NP_001263629.1	WXS	Illumina HiSeq	Phase_I	P59044	NALP6_HUMAN		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)	4	2037	+		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	611			Poly-Glu.		A8K9F3|E9PJZ8	Missense_Mutation	SNP	ENST00000312165.5	37	c.1832A>G	CCDS7693.1	.	.	.	.	.	.	.	.	.	.	A	10.81	1.454845	0.26161	.	.	ENSG00000174885	ENST00000534750;ENST00000312165	T;T	0.75367	-0.93;-0.9	3.22	3.22	0.36961	.	0.671525	0.12247	N	0.485944	T	0.80204	0.4580	L	0.57536	1.79	0.32256	N	0.570815	D;D	0.71674	0.998;0.998	D;D	0.72982	0.979;0.979	T	0.76013	-0.3114	10	0.21540	T	0.41	.	8.1671	0.31233	1.0:0.0:0.0:0.0	.	611;611	E9PJZ8;P59044	.;NALP6_HUMAN	G	611	ENSP00000433617:E611G;ENSP00000309767:E611G	ENSP00000309767:E611G	E	+	2	0	NLRP6	271566	0.811000	0.29063	0.618000	0.29105	0.573000	0.36030	0.753000	0.26376	1.704000	0.51252	0.379000	0.24179	GAG		0.662	NLRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239283.1	0	NM_138329		11:281566
CLINT1	9685	broad.mit.edu	37	5	157232960	157232960	+	Missense_Mutation	SNP	C	C	G			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:157232960C>G	ENST00000411809.2	-	7	1060	c.856G>C	c.(856-858)Gat>Cat	p.D286H	CLINT1_ENST00000530742.1_Missense_Mutation_p.D268H|CLINT1_ENST00000523908.1_Missense_Mutation_p.D286H|CLINT1_ENST00000523094.1_Missense_Mutation_p.D268H|CLINT1_ENST00000296951.5_Missense_Mutation_p.D268H	NM_014666.3	NP_055481.1	Q14677	EPN4_HUMAN	clathrin interactor 1	286					clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)	clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|lipid binding (GO:0008289)			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|urinary_tract(1)	21	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCTCCAAGATCAATGGTTTTG	0.483																																					Colon(22;427 587 2170 6147 14291)	ENST00000523094.1		NA																	0				breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|urinary_tract(1)	21						c.(802-804)Gat>Cat		clathrin interactor 1							273.0	274.0	274.0					5																	157232960		2139	4239	6378	SO:0001583	missense	9685				endocytosis|post-Golgi vesicle-mediated transport	clathrin-coated vesicle|cytosol|Golgi apparatus|membrane|perinuclear region of cytoplasm	clathrin binding|lipid binding	g.chr5:157232960C>G	AF434813	CCDS47330.1, CCDS56388.1, CCDS56389.1	5q33.3	2006-06-13			ENSG00000113282	ENSG00000113282			23186	protein-coding gene	gene with protein product		607265				12213833, 12429846	Standard	NM_014666		Approved	ENTH, KIAA0171, EPNR, CLINT	uc011ddv.2	Q14677	OTTHUMG00000163527	ENST00000411809.2:c.856G>C	5.37:g.157232960C>G	ENSP00000388340:p.Asp286His	False	False		Somatic	0				CLINT1_ENST00000296951.5_Missense_Mutation_p.D268H|CLINT1_ENST00000523908.1_Missense_Mutation_p.D286H|CLINT1_ENST00000411809.2_Missense_Mutation_p.D286H|CLINT1_ENST00000530742.1_Missense_Mutation_p.D268H	p.D268H	NM_001195555.1|NM_001195556.1	NP_001182484.1|NP_001182485.1	WXS	Illumina HiSeq	Phase_I	Q14677	EPN4_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		7	1007	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	286					B7Z6F8|D3DQJ6|Q8NAF1|Q96E05	Missense_Mutation	SNP	ENST00000411809.2	37	c.802G>C	CCDS47330.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.5|26.5	4.742679|4.742679	0.89573|0.89573	.|.	.|.	ENSG00000113282|ENSG00000113282	ENST00000523094;ENST00000530742;ENST00000411809;ENST00000296951;ENST00000523908|ENST00000521615	T;T;T;T;T|.	0.61040|.	0.14;0.14;0.25;0.14;0.22|.	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.75591|.	0.3870|.	M|M	0.68317|0.68317	2.08|2.08	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	T|.	0.73238|.	-0.4046|.	10|.	0.72032|.	D|.	0.01|.	-18.413|-18.413	19.6818|19.6818	0.95967|0.95967	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	286;286|.	B7Z6F8;Q14677|.	.;EPN4_HUMAN|.	H|S	268;268;286;268;286|2	ENSP00000429345:D268H;ENSP00000433419:D268H;ENSP00000388340:D286H;ENSP00000296951:D268H;ENSP00000429824:D286H|.	ENSP00000296951:D268H|.	D|X	-|-	1|2	0|2	CLINT1|CLINT1	157165538|157165538	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.786000|7.786000	0.85741|0.85741	2.656000|2.656000	0.90262|0.90262	0.557000|0.557000	0.71058|0.71058	GAT|TGA		0.483	CLINT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000374001.1	0	NM_014666		5:157232960
FXR1	8087	broad.mit.edu	37	3	180675681	180675681	+	Missense_Mutation	SNP	G	G	C			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:180675681G>C	ENST00000357559.4	+	10	1339	c.955G>C	c.(955-957)Gaa>Caa	p.E319Q	FXR1_ENST00000468861.1_Missense_Mutation_p.E234Q|FXR1_ENST00000491062.1_Missense_Mutation_p.E270Q|FXR1_ENST00000305586.7_Missense_Mutation_p.E234Q|FXR1_ENST00000445140.2_Missense_Mutation_p.E319Q|FXR1_ENST00000480918.1_Missense_Mutation_p.E306Q	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	319					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|negative regulation of translation (GO:0017148)	costamere (GO:0043034)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysome (GO:0005844)	G-quadruplex RNA binding (GO:0002151)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			AGTGAGAATTGAAGGGGACAA	0.313																																						ENST00000357559.4		NA																	0				breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26						c.(955-957)Gaa>Caa		fragile X mental retardation, autosomal homolog 1							105.0	114.0	111.0					3																	180675681		2203	4300	6503	SO:0001583	missense	0				apoptosis|cell differentiation|muscle organ development	nucleolus|polysome		g.chr3:180675681G>C	M67468	CCDS3238.1, CCDS33894.1, CCDS46965.1	3q28	2014-01-28			ENSG00000114416	ENSG00000114416			4023	protein-coding gene	gene with protein product		600819				7781595, 9642279	Standard	NM_005087		Approved		uc003fkq.3	P51114	OTTHUMG00000158138	ENST00000357559.4:c.955G>C	3.37:g.180675681G>C	ENSP00000350170:p.Glu319Gln	False	False		Somatic	0				FXR1_ENST00000480918.1_Missense_Mutation_p.E306Q|FXR1_ENST00000491062.1_Missense_Mutation_p.E270Q|FXR1_ENST00000445140.2_Missense_Mutation_p.E319Q|FXR1_ENST00000468861.1_Missense_Mutation_p.E234Q|FXR1_ENST00000305586.7_Missense_Mutation_p.E234Q	p.E319Q	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	WXS	Illumina HiSeq	Phase_I	P51114	FXR1_HUMAN	Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)		10	1339	+	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		319					A8K9B8|Q7Z450|Q8N6R8	Missense_Mutation	SNP	ENST00000357559.4	37	c.955G>C	CCDS3238.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.985897	0.93044	.	.	ENSG00000114416	ENST00000357559;ENST00000305586;ENST00000491062;ENST00000468861;ENST00000445140;ENST00000480918	T;T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46;1.46	5.44	5.44	0.79542	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.61999	0.2392	M	0.84219	2.685	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0;0.999	D;D;D;D;D;D	0.91635	0.999;0.999;0.999;0.974;0.99;0.993	T	0.66372	-0.5940	10	0.87932	D	0	-16.7507	19.6264	0.95679	0.0:0.0:1.0:0.0	.	306;270;234;234;319;319	B4DXZ6;E9PFF5;E7EU85;E7ERF5;P51114-2;P51114	.;.;.;.;.;FXR1_HUMAN	Q	319;234;270;234;319;306	ENSP00000350170:E319Q;ENSP00000307633:E234Q;ENSP00000420643:E270Q;ENSP00000420515:E234Q;ENSP00000388828:E319Q;ENSP00000418097:E306Q	ENSP00000307633:E234Q	E	+	1	0	FXR1	182158375	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	9.813000	0.99286	2.717000	0.92951	0.655000	0.94253	GAA		0.313	FXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350265.5	0			3:180675681
CRYBB1	1414	broad.mit.edu	37	22	27003917	27003917	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr22:27003917C>T	ENST00000215939.2	-	4	498	c.368G>A	c.(367-369)cGc>cAc	p.R123H		NM_001887.3	NP_001878.1	P53674	CRBB1_HUMAN	crystallin, beta B1	123	Beta/gamma crystallin 'Greek key' 2. {ECO:0000255|PROSITE-ProRule:PRU00028}.				visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)			breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						TGTGTTCCAGCGAGGGTACTC	0.592																																						ENST00000215939.2		NA																	0				breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						c.(367-369)cGc>cAc		crystallin, beta B1							99.0	74.0	82.0					22																	27003917		2203	4300	6503	SO:0001583	missense	1414				visual perception		structural constituent of eye lens	g.chr22:27003917C>T		CCDS13840.1	22q12.1	2008-06-10			ENSG00000100122	ENSG00000100122			2397	protein-coding gene	gene with protein product		600929				8575764, 12360425	Standard	NM_001887		Approved		uc003acy.1	P53674	OTTHUMG00000150980	ENST00000215939.2:c.368G>A	22.37:g.27003917C>T	ENSP00000215939:p.Arg123His	False	False		Somatic	0					p.R123H	NM_001887.3	NP_001878.1	WXS	Illumina HiSeq	Phase_I	P53674	CRBB1_HUMAN			4	498	-			123			Beta/gamma crystallin 'Greek key' 2.			Missense_Mutation	SNP	ENST00000215939.2	37	c.368G>A	CCDS13840.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.582400	0.86748	.	.	ENSG00000100122	ENST00000215939	T	0.76060	-0.99	4.4	3.36	0.38483	Beta/gamma crystallin (5);Gamma-crystallin-related (1);	0.105598	0.64402	D	0.000003	T	0.82157	0.4976	L	0.56199	1.76	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.83373	0.0008	10	0.66056	D	0.02	.	13.3936	0.60836	0.0:0.8408:0.1592:0.0	.	123	P53674	CRBB1_HUMAN	H	123	ENSP00000215939:R123H	ENSP00000215939:R123H	R	-	2	0	CRYBB1	25333917	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	2.906000	0.48735	1.041000	0.40125	0.585000	0.79938	CGC		0.592	CRYBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320767.1	0	NM_001887		22:27003917
SSBP3	23648	broad.mit.edu	37	1	54708959	54708959	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:54708959C>T	ENST00000371320.3	-	10	1075	c.665G>A	c.(664-666)gGc>gAc	p.G222D	SSBP3_ENST00000371319.3_Missense_Mutation_p.G195D|SSBP3_ENST00000417664.2_Missense_Mutation_p.G112D|SSBP3_ENST00000357475.4_Missense_Mutation_p.G202D|SSBP3_ENST00000326956.7_5'UTR	NM_145716.2	NP_663768.1	Q9BWW4	SSBP3_HUMAN	single stranded DNA binding protein 3	222	Gly-rich.|Pro-rich.				head morphogenesis (GO:0060323)|hematopoietic progenitor cell differentiation (GO:0002244)|midbrain-hindbrain boundary initiation (GO:0021547)|positive regulation of anterior head development (GO:2000744)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prechordal plate formation (GO:0021501)|protein complex assembly (GO:0006461)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|protein complex (GO:0043234)	single-stranded DNA binding (GO:0003697)			central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	11						TGGTCTCATGCCGCTGCCGTA	0.562																																						ENST00000371320.3		NA																	0				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	11						c.(664-666)gGc>gAc		single stranded DNA binding protein 3							145.0	153.0	150.0					1																	54708959		2203	4300	6503	SO:0001583	missense	23648				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	single-stranded DNA binding	g.chr1:54708959C>T		CCDS590.1, CCDS591.1, CCDS30726.1	1p32.3	2008-02-05	2001-11-28		ENSG00000157216	ENSG00000157216			15674	protein-coding gene	gene with protein product		607390	"""single-stranded DNA-binding protein 3"""			12079286	Standard	NM_145716		Approved	CSDP, SSDP, FLJ10355, SSDP1	uc001cxe.4	Q9BWW4	OTTHUMG00000008264	ENST00000371320.3:c.665G>A	1.37:g.54708959C>T	ENSP00000360371:p.Gly222Asp	False	False		Somatic	0				SSBP3_ENST00000417664.2_Missense_Mutation_p.G112D|SSBP3_ENST00000357475.4_Missense_Mutation_p.G202D|SSBP3_ENST00000371319.3_Missense_Mutation_p.G195D|SSBP3_ENST00000326956.7_5'UTR	p.G222D	NM_145716.2	NP_663768.1	WXS	Illumina HiSeq	Phase_I	Q9BWW4	SSBP3_HUMAN			10	1075	-			222			Gly-rich.|Pro-rich.		A8K0A9|Q5T860|Q5T861|Q9BTM0|Q9BWW3	Missense_Mutation	SNP	ENST00000371320.3	37	c.665G>A	CCDS591.1	.	.	.	.	.	.	.	.	.	.	c	25.8	4.676502	0.88445	.	.	ENSG00000157216	ENST00000417664;ENST00000371320;ENST00000371319;ENST00000357475;ENST00000444533;ENST00000525990	.	.	.	3.94	3.94	0.45596	.	0.000000	0.85682	U	0.000000	T	0.78717	0.4327	M	0.75085	2.285	0.80722	D	1	D;P;P	0.89917	1.0;0.951;0.866	D;P;P	0.97110	1.0;0.743;0.686	T	0.81534	-0.0889	9	0.59425	D	0.04	-1.6526	17.3039	0.87189	0.0:1.0:0.0:0.0	.	195;202;222	Q9BWW4-2;Q9BWW4-3;Q9BWW4	.;.;SSBP3_HUMAN	D	112;222;195;202;53;85	.	ENSP00000350067:G202D	G	-	2	0	SSBP3	54481547	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.969000	0.76092	2.493000	0.84123	0.479000	0.44913	GGC		0.562	SSBP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022721.1	0	NM_018070		1:54708959
GALNT6	11226	broad.mit.edu	37	12	51749736	51749736	+	Missense_Mutation	SNP	C	C	G			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:51749736C>G	ENST00000543196.2	-	10	1814	c.1609G>C	c.(1609-1611)Gag>Cag	p.E537Q	GALNT6_ENST00000356317.3_Missense_Mutation_p.E537Q			Q8NCL4	GALT6_HUMAN	polypeptide N-acetylgalactosaminyltransferase 6	537	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GTTGTGTACTCAAAGTACTGG	0.547																																						ENST00000543196.2		NA																	0				endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(1609-1611)Gag>Cag		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)							126.0	107.0	114.0					12																	51749736		2203	4300	6503	SO:0001583	missense	11226				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr12:51749736C>G	Y08565	CCDS8813.1	12q13	2014-03-13	2014-03-13		ENSG00000139629	ENSG00000139629		"""Glycosyltransferase family 2 domain containing"""	4128	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 6"""	605148	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)"""			10464263	Standard	NM_007210		Approved	GalNAc-T6	uc001ryl.1	Q8NCL4		ENST00000543196.2:c.1609G>C	12.37:g.51749736C>G	ENSP00000444171:p.Glu537Gln	True	False		Somatic	0				GALNT6_ENST00000356317.3_Missense_Mutation_p.E537Q	p.E537Q			WXS	Illumina HiSeq	Phase_I	Q8NCL4	GALT6_HUMAN			10	1814	-			537			Ricin B-type lectin.		Q8IYH4|Q9H6G2|Q9UIV5	Missense_Mutation	SNP	ENST00000543196.2	37	c.1609G>C	CCDS8813.1	.	.	.	.	.	.	.	.	.	.	C	18.94	3.729653	0.69074	.	.	ENSG00000139629	ENST00000543196;ENST00000356317;ENST00000546163	T;T	0.26810	1.71;1.71	3.92	3.92	0.45320	Ricin B-related lectin (1);Ricin B lectin (3);	0.000000	0.85682	D	0.000000	T	0.52933	0.1765	M	0.84585	2.705	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.54629	-0.8265	10	0.27082	T	0.32	.	15.908	0.79445	0.0:1.0:0.0:0.0	.	537	Q8NCL4	GALT6_HUMAN	Q	537;537;518	ENSP00000444171:E537Q;ENSP00000348668:E537Q	ENSP00000348668:E537Q	E	-	1	0	GALNT6	50036003	1.000000	0.71417	1.000000	0.80357	0.384000	0.30261	7.378000	0.79679	2.485000	0.83878	0.655000	0.94253	GAG		0.547	GALNT6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469735.1	0	NM_007210		12:51749736
SSPO	23145	broad.mit.edu	37	7	149523658	149523658	+	RNA	SNP	G	G	C			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr7:149523658G>C	ENST00000378016.2	+	0	14572							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGGCTGCCCTGGAGGGCAGGT	0.672																																						ENST00000378016.2		NA																	0					NA								SCO-spondin							13.0	16.0	15.0					7																	149523658		2150	4239	6389			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149523658G>C	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149523658G>C		False	False		Somatic	0								WXS	Illumina HiSeq	Phase_I	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	14572	+	Melanoma(164;0.165)|Ovarian(565;0.177)		NA					Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.672	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript		0			7:149523658
RYR1	6261	broad.mit.edu	37	19	39075614	39075614	+	Missense_Mutation	SNP	G	G	A	rs118192151		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:39075614G>A	ENST00000359596.3	+	102	14678	c.14678G>A	c.(14677-14679)cGg>cAg	p.R4893Q	RYR1_ENST00000360985.3_Missense_Mutation_p.R4888Q|RYR1_ENST00000355481.4_Missense_Mutation_p.R4888Q			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4893			R -> Q (in CCD). {ECO:0000269|PubMed:12565913}.|R -> W (in CCD; release of calcium from intracellular stores in the absence of any pharmacological activator of RYR; smaller thapsigargin-sensitive intracellular calcium stores; normal sensitivity of the calcium release to the RYR inhibitor dantrolene). {ECO:0000269|PubMed:11709545, ECO:0000269|PubMed:14670767}.		calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GTGGGTGTCCGGGCTGGCGGA	0.572																																						ENST00000355481.4		NA																	0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	GRCh37	CM030713|CM061940	RYR1	M	rs118192151	c.(14662-14664)cGg>cAg		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						189.0	159.0	169.0					19																	39075614		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:39075614G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.14678G>A	19.37:g.39075614G>A	ENSP00000352608:p.Arg4893Gln	True	False		Somatic	0				RYR1_ENST00000359596.3_Missense_Mutation_p.R4893Q|RYR1_ENST00000360985.3_Missense_Mutation_p.R4888Q	p.R4888Q	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	WXS	Illumina HiSeq	Phase_I	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		101	14794	+	all_cancers(60;7.91e-06)		4893					Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.14663G>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.959539	0.74016	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.94457	-3.43;-3.43;-3.43	5.08	5.08	0.68730	Ion transport (1);	0.000000	0.64402	U	0.000015	D	0.98086	0.9369	M	0.94142	3.5	0.52501	D	0.999954	D;D	0.76494	0.999;0.999	D;D	0.80764	0.99;0.994	D	0.99081	1.0837	10	0.87932	D	0	.	18.3248	0.90250	0.0:0.0:1.0:0.0	.	4888;4893	P21817-2;P21817	.;RYR1_HUMAN	Q	4893;4888;4888	ENSP00000352608:R4893Q;ENSP00000347667:R4888Q;ENSP00000354254:R4888Q	ENSP00000347667:R4888Q	R	+	2	0	RYR1	43767454	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.656000	0.98514	2.658000	0.90341	0.449000	0.29647	CGG		0.572	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1	0			19:39075614
CYP2C8	1558	broad.mit.edu	37	10	96802653	96802653	+	Silent	SNP	G	G	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr10:96802653G>T	ENST00000371270.3	-	7	1237	c.1143C>A	c.(1141-1143)atC>atA	p.I381I	CYP2C8_ENST00000535898.1_Silent_p.I279I|CYP2C8_ENST00000539050.1_Silent_p.I295I	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	381					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|omega-hydroxylase P450 pathway (GO:0097267)|organic acid metabolic process (GO:0006082)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Abiraterone(DB05812)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Almotriptan(DB00918)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Candesartan(DB00796)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Chloramphenicol(DB00446)|Chloroquine(DB00608)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cisapride(DB00604)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dapsone(DB00250)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Domperidone(DB01184)|Eltrombopag(DB06210)|Enzalutamide(DB08899)|Erlotinib(DB00530)|Estradiol(DB00783)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Felodipine(DB01023)|Fenofibrate(DB01039)|Fluorouracil(DB00544)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Halofantrine(DB01218)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Liotrix(DB01583)|Loperamide(DB00836)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Methadone(DB00333)|Metronidazole(DB00916)|Mirtazapine(DB00370)|Mometasone(DB00764)|Montelukast(DB00471)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Naloxone(DB01183)|Naproxen(DB00788)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Omeprazole(DB00338)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paramethadione(DB00617)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Perphenazine(DB00850)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quinidine(DB00908)|Quinine(DB00468)|Raloxifene(DB00481)|Regorafenib(DB08896)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Salmeterol(DB00938)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Sorafenib(DB00398)|Spironolactone(DB00421)|Sulfadiazine(DB00359)|Sulfamethoxazole(DB01015)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Tazarotene(DB00799)|Temazepam(DB00231)|Terbinafine(DB00857)|Testosterone(DB00624)|Theophylline(DB00277)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Torasemide(DB00214)|Trametinib(DB08911)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vismodegib(DB08828)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zopiclone(DB01198)	TTACCTTGGGGATGAGGTAGT	0.453																																						ENST00000371270.3		NA																	0				breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21						c.(1141-1143)atC>atA		cytochrome P450, family 2, subfamily C, polypeptide 8	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)						181.0	164.0	170.0					10																	96802653		2203	4300	6503	SO:0001819	synonymous_variant	1558				exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding	g.chr10:96802653G>T	M17397	CCDS7438.1, CCDS55721.1, CCDS73166.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138115	ENSG00000138115		"""Cytochrome P450s"""	2622	protein-coding gene	gene with protein product		601129	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 8"""			7841444	Standard	NM_001198853		Approved	CPC8	uc001kkb.3	P10632	OTTHUMG00000018804	ENST00000371270.3:c.1143C>A	10.37:g.96802653G>T		True	False		Somatic	0				CYP2C8_ENST00000539050.1_Silent_p.I295I|CYP2C8_ENST00000535898.1_Silent_p.I279I	p.I381I	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	WXS	Illumina HiSeq	Phase_I	P10632	CP2C8_HUMAN		all cancers(201;6.21e-05)	7	1237	-		Colorectal(252;0.0397)	381					A8K9N8|B0AZN2|B7Z1F6|Q5VX93|Q8WWB1|Q9UCZ9	Silent	SNP	ENST00000371270.3	37	c.1143C>A	CCDS7438.1																																																																																				0.453	CYP2C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049499.2	0	NM_000770		10:96802653
OR10J1	26476	broad.mit.edu	37	1	159410194	159410194	+	Missense_Mutation	SNP	G	G	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:159410194G>T	ENST00000423932.3	+	1	683	c.646G>T	c.(646-648)Gtg>Ttg	p.V216L	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	216					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|single fertilization (GO:0007338)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					CAGTGTGCTGGTGCTTGTTGT	0.453																																						ENST00000423932.3		NA																	0				endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25						c.(646-648)Gtg>Ttg		olfactory receptor, family 10, subfamily J, member 1							290.0	264.0	273.0					1																	159410194		2203	4300	6503	SO:0001583	missense	26476				sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity	g.chr1:159410194G>T	X64995	CCDS1185.1	1q23.2	2012-08-09			ENSG00000196184	ENSG00000196184		"""GPCR / Class A : Olfactory receptors"""	8175	protein-coding gene	gene with protein product						1370859	Standard	NM_012351		Approved	HGMP07J, HSHGMP07J	uc010piv.2	P30954	OTTHUMG00000022737	ENST00000423932.3:c.646G>T	1.37:g.159410194G>T	ENSP00000399078:p.Val216Leu	False	False		Somatic	0				RP11-550P17.5_ENST00000431862.1_RNA	p.V216L	NM_012351.2	NP_036483.2	WXS	Illumina HiSeq	Phase_I	P30954	O10J1_HUMAN			1	683	+	all_hematologic(112;0.0429)		216					Q2M1M8|Q5VSV1|Q6IET5|Q96R56	Missense_Mutation	SNP	ENST00000423932.3	37	c.646G>T	CCDS1185.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.855739	0.51376	.	.	ENSG00000196184	ENST00000423932	T	0.00036	8.86	4.42	3.49	0.39957	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37437	N	0.002096	T	0.00073	0.0002	N	0.25245	0.725	0.09310	N	1	D	0.55385	0.971	P	0.58577	0.841	T	0.04440	-1.0951	10	0.45353	T	0.12	.	6.6645	0.23032	0.0986:0.1797:0.7217:0.0	.	216	P30954	O10J1_HUMAN	L	216	ENSP00000399078:V216L	ENSP00000399078:V216L	V	+	1	0	OR10J1	157676818	0.000000	0.05858	0.028000	0.17463	0.974000	0.67602	-0.144000	0.10280	1.155000	0.42497	0.650000	0.86243	GTG		0.453	OR10J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059020.1	0	NM_012351		1:159410194
TMUB1	83590	broad.mit.edu	37	7	150779321	150779321	+	Silent	SNP	G	G	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr7:150779321G>T	ENST00000392818.3	-	2	687	c.330C>A	c.(328-330)ctC>ctA	p.L110L	FASTK_ENST00000297532.6_5'Flank|TMUB1_ENST00000297533.4_Silent_p.L110L|FASTK_ENST00000353841.2_5'Flank|FASTK_ENST00000489884.1_5'Flank|TMUB1_ENST00000482202.1_Silent_p.L110L|TMUB1_ENST00000476627.1_Silent_p.L110L|FASTK_ENST00000540185.1_5'Flank|TMUB1_ENST00000462940.1_Silent_p.L110L|FASTK_ENST00000482571.1_5'Flank	NM_031434.3	NP_113622.1	Q9BVT8	TMUB1_HUMAN	transmembrane and ubiquitin-like domain containing 1	110	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				endometrium(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTGAATCATTGAGGAATTTCA	0.607																																						ENST00000392818.3		NA																	0				endometrium(1)|lung(1)	2						c.(328-330)ctC>ctA		transmembrane and ubiquitin-like domain containing 1							123.0	146.0	138.0					7																	150779321		2203	4300	6503	SO:0001819	synonymous_variant	83590					cytoplasm|integral to membrane|nucleus		g.chr7:150779321G>T	BC000936	CCDS5920.1	7q36.1	2006-06-27	2006-06-27	2006-06-27	ENSG00000164897	ENSG00000164897			21709	protein-coding gene	gene with protein product		614792	"""chromosome 7 open reading frame 21"""	C7orf21			Standard	NM_001136044		Approved	SB144	uc003wjd.3	Q9BVT8	OTTHUMG00000158621	ENST00000392818.3:c.330C>A	7.37:g.150779321G>T		False	False		Somatic	0				TMUB1_ENST00000482202.1_Silent_p.L110L|TMUB1_ENST00000297533.4_Silent_p.L110L|TMUB1_ENST00000462940.1_Silent_p.L110L|TMUB1_ENST00000476627.1_Silent_p.L110L	p.L110L	NM_031434.3	NP_113622.1	WXS	Illumina HiSeq	Phase_I	Q9BVT8	TMUB1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	687	-			110			Ubiquitin-like.		D3DX06|Q53AQ2	Silent	SNP	ENST00000392818.3	37	c.330C>A	CCDS5920.1																																																																																				0.607	TMUB1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351485.1	0	NM_031434		7:150779321
PPFIBP1	8496	broad.mit.edu	37	12	27832529	27832529	+	Missense_Mutation	SNP	G	G	C			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:27832529G>C	ENST00000318304.8	+	19	2024	c.1741G>C	c.(1741-1743)Gat>Cat	p.D581H	PPFIBP1_ENST00000542629.1_Missense_Mutation_p.D550H|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.D575H|PPFIBP1_ENST00000537927.1_Missense_Mutation_p.D428H	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	581					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)			PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					TCCATCTCCAGATTCCAAAAA	0.443																																						ENST00000318304.8		NA																PPFIBP1/ALK(3)	0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32						c.(1741-1743)Gat>Cat		PTPRF interacting protein, binding protein 1 (liprin beta 1)							125.0	132.0	130.0					12																	27832529		2203	4300	6503	SO:0001583	missense	8496				cell adhesion	plasma membrane	protein binding	g.chr12:27832529G>C	AF034802	CCDS8713.1, CCDS55812.1, CCDS55813.1, CCDS55814.1	12p12.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9249	protein-coding gene	gene with protein product		603141				9624153, 11836260	Standard	NM_003622		Approved	L2, hSGT2, hSgt2p, SGT2	uc001ric.2	Q86W92		ENST00000318304.8:c.1741G>C	12.37:g.27832529G>C	ENSP00000314724:p.Asp581His	False	False		Somatic	0				PPFIBP1_ENST00000537927.1_Missense_Mutation_p.D428H|PPFIBP1_ENST00000542629.1_Missense_Mutation_p.D550H|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.D575H	p.D581H	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193	WXS	Illumina HiSeq	Phase_I	Q86W92	LIPB1_HUMAN			19	2024	+	Lung SC(9;0.0873)		581					O75336|Q86X70|Q9NY03|Q9ULJ0	Missense_Mutation	SNP	ENST00000318304.8	37	c.1741G>C	CCDS55812.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.808956	0.90707	.	.	ENSG00000110841	ENST00000540114;ENST00000537927;ENST00000318304;ENST00000542629;ENST00000228425	T;T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12;-1.12	5.8	5.8	0.92144	.	0.000000	0.35096	U	0.003459	D	0.87030	0.6076	L	0.59436	1.845	0.80722	D	1	D;D;D;P;D	0.89917	0.999;1.0;0.999;0.886;0.996	D;D;D;P;D	0.91635	0.981;0.999;0.928;0.847;0.967	D	0.87005	0.2119	10	0.66056	D	0.02	-23.4066	19.6581	0.95851	0.0:0.0:1.0:0.0	.	428;412;581;575;550	Q86W92-3;F5GZP6;Q86W92;Q86W92-2;Q86W92-4	.;.;LIPB1_HUMAN;.;.	H	412;428;581;550;575	ENSP00000444304:D412H;ENSP00000445425:D428H;ENSP00000314724:D581H;ENSP00000443442:D550H;ENSP00000228425:D575H	ENSP00000228425:D575H	D	+	1	0	PPFIBP1	27723796	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.039000	0.76544	2.735000	0.93741	0.655000	0.94253	GAT		0.443	PPFIBP1-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402877.1	0	NM_003622		12:27832529
NELL2	4753	broad.mit.edu	37	12	45169879	45169879	+	Missense_Mutation	SNP	T	T	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:45169879T>A	ENST00000429094.2	-	8	1321	c.817A>T	c.(817-819)Act>Tct	p.T273S	NELL2_ENST00000395487.2_Missense_Mutation_p.T272S|NELL2_ENST00000452445.2_Missense_Mutation_p.T273S|NELL2_ENST00000551601.1_Missense_Mutation_p.T272S|NELL2_ENST00000333837.4_Missense_Mutation_p.T296S|NELL2_ENST00000437801.2_Missense_Mutation_p.T323S|NELL2_ENST00000549027.1_Missense_Mutation_p.T272S	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	273	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		ATGGTGCAAGTCCTTTCACAA	0.458																																						ENST00000429094.2		NA																	0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						c.(817-819)Act>Tct		NEL-like 2 (chicken)							179.0	150.0	159.0					12																	45169879		2203	4300	6503	SO:0001583	missense	4753				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity	g.chr12:45169879T>A	D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"""nel (chicken)-like 2"""			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.817A>T	12.37:g.45169879T>A	ENSP00000390680:p.Thr273Ser	False	False		Somatic	0				NELL2_ENST00000333837.4_Missense_Mutation_p.T296S|NELL2_ENST00000551601.1_Missense_Mutation_p.T272S|NELL2_ENST00000437801.2_Missense_Mutation_p.T323S|NELL2_ENST00000395487.2_Missense_Mutation_p.T272S|NELL2_ENST00000549027.1_Missense_Mutation_p.T272S|NELL2_ENST00000452445.2_Missense_Mutation_p.T273S	p.T273S	NM_001145108.1	NP_001138580.1	WXS	Illumina HiSeq	Phase_I	Q99435	NELL2_HUMAN		GBM - Glioblastoma multiforme(48;0.092)	8	1321	-	Lung SC(27;0.192)	Lung NSC(34;0.144)	273			VWFC 1.		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000429094.2	37	c.817A>T	CCDS8746.1	.	.	.	.	.	.	.	.	.	.	T	12.43	1.935303	0.34189	.	.	ENSG00000184613	ENST00000395487;ENST00000429094;ENST00000551601;ENST00000452445;ENST00000549027;ENST00000333837;ENST00000437801;ENST00000543684;ENST00000550462;ENST00000552993	T;T;T;T;T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04	5.61	5.61	0.85477	von Willebrand factor, type C (1);	0.050756	0.85682	D	0.000000	T	0.38878	0.1057	N	0.13003	0.285	0.52099	D	0.999945	B;B;B;B;B;B	0.30824	0.01;0.296;0.045;0.036;0.027;0.185	B;B;B;B;B;B	0.24006	0.003;0.05;0.038;0.012;0.017;0.034	T	0.34428	-0.9829	10	0.10111	T	0.7	-16.8894	10.9681	0.47424	0.1394:0.0:0.0:0.8606	.	296;323;272;273;273;272	B7Z2U7;B7Z9U3;F8VVB6;B3KTI3;Q99435;Q96JS2	.;.;.;.;NELL2_HUMAN;.	S	272;273;272;273;272;296;323;272;46;273	ENSP00000378866:T272S;ENSP00000390680:T273S;ENSP00000449332:T272S;ENSP00000394612:T273S;ENSP00000447927:T272S;ENSP00000327988:T296S;ENSP00000416341:T323S;ENSP00000450102:T46S;ENSP00000447085:T273S	ENSP00000327988:T296S	T	-	1	0	NELL2	43456146	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.818000	0.69236	2.137000	0.66172	0.528000	0.53228	ACT		0.458	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404180.1	0	NM_006159		12:45169879
ACRV1	56	broad.mit.edu	37	11	125548083	125548083	+	Silent	SNP	A	A	G			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr11:125548083A>G	ENST00000533904.1	-	2	504	c.162T>C	c.(160-162)gcT>gcC	p.A54A	ACRV1_ENST00000425431.1_Intron|ACRV1_ENST00000453509.1_Intron|ACRV1_ENST00000348856.3_Intron|ACRV1_ENST00000445562.1_Intron|ACRV1_ENST00000353070.1_Intron|ACRV1_ENST00000345274.1_Intron|ACRV1_ENST00000315608.3_Silent_p.A54A|ACRV1_ENST00000530048.1_Intron|ACRV1_ENST00000527795.1_Intron			P26436	ASPX_HUMAN	acrosomal vesicle protein 1	54					multicellular organismal development (GO:0007275)	acrosomal vesicle (GO:0001669)				kidney(1)|large_intestine(3)|lung(2)	6	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0713)		TCTCATATAAAGCCTCAGCAT	0.463																																						ENST00000533904.1		NA																	0				kidney(1)|large_intestine(3)|lung(2)	6						c.(160-162)gcT>gcC		acrosomal vesicle protein 1							67.0	62.0	64.0					11																	125548083		2201	4299	6500	SO:0001819	synonymous_variant	56				multicellular organismal development	acrosomal vesicle		g.chr11:125548083A>G	AK223335	CCDS8460.1, CCDS8461.1, CCDS44759.1, CCDS44761.1	11q24.2	2012-05-16			ENSG00000134940	ENSG00000134940			127	protein-coding gene	gene with protein product	"""sperm protein 10"""	102525				1693291, 8288254	Standard	NM_001612		Approved	SPACA2, SP-10, D11S4365	uc001qcs.3	P26436	OTTHUMG00000165854	ENST00000533904.1:c.162T>C	11.37:g.125548083A>G		True	False		Somatic	0				ACRV1_ENST00000530048.1_Intron|ACRV1_ENST00000315608.3_Silent_p.A54A|ACRV1_ENST00000425431.1_Intron|ACRV1_ENST00000527795.1_Intron|ACRV1_ENST00000453509.1_Intron|ACRV1_ENST00000348856.3_Intron|ACRV1_ENST00000353070.1_Intron|ACRV1_ENST00000345274.1_Intron|ACRV1_ENST00000445562.1_Intron	p.A54A			WXS	Illumina HiSeq	Phase_I	P26436	ASPX_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0713)	2	504	-	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	54					Q53FF4	Silent	SNP	ENST00000533904.1	37	c.162T>C	CCDS8460.1																																																																																				0.463	ACRV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386722.1	0	NM_001612		11:125548083
CXCR1	3577	broad.mit.edu	37	2	219029099	219029099	+	Missense_Mutation	SNP	C	C	T	rs56030518	byFrequency	TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr2:219029099C>T	ENST00000295683.2	-	2	956	c.836G>A	c.(835-837)cGc>cAc	p.R279H		NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN	chemokine (C-X-C motif) receptor 1	279					cell surface receptor signaling pathway (GO:0007166)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|interleukin-8-mediated signaling pathway (GO:0038112)|receptor internalization (GO:0031623)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|interleukin-8 binding (GO:0019959)|interleukin-8 receptor activity (GO:0004918)			endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13					Ketoprofen(DB01009)	GTTGTTGCGGCGCTCACAGCT	0.572													C|||	2	0.000399361	0.0	0.0014	5008	,	,		19230	0.0		0.001	False		,,,				2504	0.0					ENST00000295683.2		NA																	0				endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						c.(835-837)cGc>cAc		chemokine (C-X-C motif) receptor 1		C	HIS/ARG	0,4406		0,0,2203	76.0	74.0	75.0		836	3.9	1.0	2	dbSNP_129	75	3,8597	3.0+/-9.4	0,3,4297	yes	missense	CXCR1	NM_000634.2	29	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging	279/351	219029099	3,13003	2203	4300	6503	SO:0001583	missense	3577				dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity	g.chr2:219029099C>T	U11870	CCDS2409.1	2q35	2012-08-08	2009-11-25	2009-11-25	ENSG00000163464	ENSG00000163464		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"", ""Interleukins and interleukin receptors"""	6026	protein-coding gene	gene with protein product		146929	"""interleukin 8 receptor, alpha"""	CMKAR1, IL8RA		1303245, 1427896	Standard	NM_000634		Approved	CKR-1, CDw128a, CD181	uc002vhc.3	P25024	OTTHUMG00000133108	ENST00000295683.2:c.836G>A	2.37:g.219029099C>T	ENSP00000295683:p.Arg279His	False	False		Somatic	0					p.R279H	NM_000634.2	NP_000625.1	WXS	Illumina HiSeq	Phase_I	P25024	CXCR1_HUMAN			2	956	-			279					B2R6Q3|Q2YEF8|Q2YEG4|Q2YEG5|Q2YEG7|Q2YEG8|Q53R18|Q6IN95|Q8N6T6|Q9P2T8|Q9P2T9|Q9P2U0|Q9P2U1|Q9P2U2	Missense_Mutation	SNP	ENST00000295683.2	37	c.836G>A	CCDS2409.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	15.25	2.778988	0.49891	0.0	3.49E-4	ENSG00000163464	ENST00000295683;ENST00000421691	T	0.71934	-0.61	4.89	3.94	0.45596	GPCR, rhodopsin-like superfamily (1);	0.392430	0.28482	N	0.015186	T	0.65923	0.2738	M	0.62154	1.92	0.31690	N	0.641996	P	0.40083	0.702	B	0.37780	0.258	T	0.72276	-0.4341	10	0.33940	T	0.23	.	13.1692	0.59589	0.1603:0.8397:0.0:0.0	rs56030518	279	P25024	CXCR1_HUMAN	H	279;223	ENSP00000295683:R279H	ENSP00000295683:R279H	R	-	2	0	CXCR1	218737344	0.005000	0.15991	0.967000	0.41034	0.149000	0.21700	1.489000	0.35562	2.406000	0.81754	0.561000	0.74099	CGC		0.572	CXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256773.2	0	NM_000634		2:219029099
SLC25A36	55186	broad.mit.edu	37	3	140692616	140692616	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:140692616G>A	ENST00000324194.6	+	6	679	c.511G>A	c.(511-513)Gat>Aat	p.D171N	SLC25A36_ENST00000453248.2_Missense_Mutation_p.D145N|RP11-231L11.3_ENST00000513802.1_RNA|SLC25A36_ENST00000446041.2_Missense_Mutation_p.D171N			Q96CQ1	S2536_HUMAN	solute carrier family 25 (pyrimidine nucleotide carrier ), member 36	171					response to estradiol (GO:0032355)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						GTATCAGACAGATGGACTAAA	0.353																																						ENST00000446041.2		NA																	0				endometrium(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						c.(511-513)Gat>Aat		solute carrier family 25 (pyrimidine nucleotide carrier ), member 36							71.0	71.0	71.0					3																	140692616		2203	4300	6503	SO:0001583	missense	55186				response to estradiol stimulus|transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr3:140692616G>A	AK001480	CCDS3114.1, CCDS46927.1	3q23	2013-05-22	2012-03-29		ENSG00000114120	ENSG00000114120		"""Solute carriers"""	25554	protein-coding gene	gene with protein product			"""solute carrier family 25, member 36"""				Standard	NM_001104647		Approved	FLJ10618, PNC2	uc003etr.2	Q96CQ1	OTTHUMG00000160260	ENST00000324194.6:c.511G>A	3.37:g.140692616G>A	ENSP00000320688:p.Asp171Asn	True	False		Somatic	0				SLC25A36_ENST00000324194.6_Missense_Mutation_p.D171N|SLC25A36_ENST00000453248.2_Missense_Mutation_p.D145N	p.D171N	NM_001104647.1|NM_018155.2	NP_001098117.1|NP_060625.2	WXS	Illumina HiSeq	Phase_I	Q96CQ1	S2536_HUMAN			6	736	+			171					A8MYF7|Q05CY1|Q9H0G8|Q9NVN5	Missense_Mutation	SNP	ENST00000324194.6	37	c.511G>A	CCDS46927.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.347924	0.82022	.	.	ENSG00000114120	ENST00000446041;ENST00000324194;ENST00000453248	T;T;T	0.78816	-1.21;-1.21;-1.21	6.01	6.01	0.97437	Mitochondrial carrier domain (2);	0.042314	0.85682	D	0.000000	D	0.83718	0.5315	L	0.46157	1.445	0.80722	D	1	B;B;D	0.55800	0.417;0.215;0.973	B;B;P	0.60117	0.213;0.135;0.869	D	0.84345	0.0529	10	0.87932	D	0	-25.1645	18.015	0.89236	0.0:0.0:1.0:0.0	.	145;171;171	B4DL01;Q96CQ1-3;Q96CQ1	.;.;S2536_HUMAN	N	171;171;145	ENSP00000401938:D171N;ENSP00000320688:D171N;ENSP00000391521:D145N	ENSP00000320688:D171N	D	+	1	0	SLC25A36	142175306	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.869000	0.99810	2.861000	0.98227	0.650000	0.86243	GAT		0.353	SLC25A36-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359929.1	0	NM_018155		3:140692616
COL6A2	1292	broad.mit.edu	37	21	47532333	47532333	+	Silent	SNP	C	C	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr21:47532333C>A	ENST00000300527.4	+	3	660	c.556C>A	c.(556-558)Cgg>Agg	p.R186R	COL6A2_ENST00000357838.4_Silent_p.R186R|COL6A2_ENST00000409416.1_Silent_p.R186R|COL6A2_ENST00000310645.5_Silent_p.R186R|COL6A2_ENST00000460886.1_3'UTR|COL6A2_ENST00000397763.1_Silent_p.R186R	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	186	Nonhelical region.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GGAGGGCATCCGGCTCTTCGC	0.701																																						ENST00000300527.4		NA																	0				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(556-558)Cgg>Agg		collagen, type VI, alpha 2							14.0	21.0	19.0					21																	47532333		2185	4265	6450	SO:0001819	synonymous_variant	0				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	g.chr21:47532333C>A	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"""Collagens"""	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.556C>A	21.37:g.47532333C>A		False	False		Somatic	0				COL6A2_ENST00000409416.1_Silent_p.R186R|COL6A2_ENST00000310645.5_Silent_p.R186R|COL6A2_ENST00000357838.4_Silent_p.R186R|COL6A2_ENST00000397763.1_Silent_p.R186R|COL6A2_ENST00000460886.1_3'UTR	p.R186R	NM_001849.3	NP_001840.3	WXS	Illumina HiSeq	Phase_I	P12110	CO6A2_HUMAN		Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)	3	660	+	Breast(49;0.245)		186			Nonhelical region.|VWFA 1.		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Silent	SNP	ENST00000300527.4	37	c.556C>A	CCDS13728.1																																																																																				0.701	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1	0			21:47532333
CDKN2A	1029	broad.mit.edu	37	9	21971111	21971111	+	Missense_Mutation	SNP	G	G	A	rs121913385		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr9:21971111G>A	ENST00000304494.5	-	2	517	c.247C>T	c.(247-249)Cac>Tac	p.H83Y	CDKN2A_ENST00000498628.2_Missense_Mutation_p.H32Y|CDKN2A_ENST00000579122.1_Missense_Mutation_p.H83Y|CDKN2A_ENST00000579755.1_Missense_Mutation_p.A97V|CDKN2A_ENST00000578845.2_Missense_Mutation_p.H32Y|CDKN2A_ENST00000361570.3_Missense_Mutation_p.A138V|CDKN2A_ENST00000498124.1_Missense_Mutation_p.H83Y|CDKN2A_ENST00000479692.2_Missense_Mutation_p.H32Y|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000497750.1_Missense_Mutation_p.H32Y|CDKN2A_ENST00000494262.1_Missense_Mutation_p.H32Y|CDKN2A_ENST00000530628.2_Missense_Mutation_p.A97V|CDKN2A_ENST00000446177.1_Missense_Mutation_p.H83Y	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	83			H -> N (in a lung tumor).|H -> Q (in dbSNP:rs34968276).|H -> Y (in a pancreas and a head and neck tumor).		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(44)|p.H83Y(30)|p.A138V(2)|p.H83fs*2(2)|p.H83N(1)|p.V82fs*62(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.R80fs*34(1)|p.V82_E88del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCAGCGTCGTGCACGGGTCGG	0.741	H83Y(CALU3_LUNG)|H83Y(HS944T_SKIN)|H83Y(JHH2_LIVER)|H83Y(OPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|H83Y(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000579755.1	H83Y(CALU3_LUNG)|H83Y(HS944T_SKIN)|H83Y(JHH2_LIVER)|H83Y(OPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|H83Y(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	17																	1403	Whole gene deletion(1316)|Unknown(44)|Substitution - Missense(33)|Deletion - Frameshift(6)|Deletion - In frame(3)|Complex - deletion inframe(1)	p.0?(1315)|p.?(44)|p.H83Y(30)|p.A138V(2)|p.H83fs*2(2)|p.H83N(1)|p.V82fs*62(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.R80fs*34(1)|p.V82_E88del(1)	haematopoietic_and_lymphoid_tissue(284)|skin(175)|central_nervous_system(171)|lung(154)|urinary_tract(93)|bone(74)|oesophagus(59)|soft_tissue(58)|upper_aerodigestive_tract(56)|pleura(51)|ovary(36)|pancreas(34)|breast(33)|kidney(32)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(9)|liver(7)|meninges(7)|large_intestine(6)|salivary_gland(5)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199	GRCh37	CM053801|CM056557	CDKN2A	M	rs121913385	c.(289-291)gCa>gTa		cyclin-dependent kinase inhibitor 2A							12.0	15.0	14.0					9																	21971111		2176	4259	6435	SO:0001583	missense	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21971111G>A	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.247C>T	9.37:g.21971111G>A	ENSP00000307101:p.His83Tyr	False	False	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)	Somatic	0				CDKN2A_ENST00000498124.1_Missense_Mutation_p.H83Y|CDKN2A_ENST00000498628.2_Missense_Mutation_p.H32Y|CDKN2A_ENST00000578845.2_Missense_Mutation_p.H32Y|CDKN2A_ENST00000494262.1_Missense_Mutation_p.H32Y|CDKN2A_ENST00000446177.1_Missense_Mutation_p.H83Y|CDKN2A_ENST00000579122.1_Missense_Mutation_p.H83Y|CDKN2A_ENST00000304494.5_Missense_Mutation_p.H83Y|CDKN2A_ENST00000361570.3_Missense_Mutation_p.A138V|CDKN2A_ENST00000479692.2_Missense_Mutation_p.H32Y|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000497750.1_Missense_Mutation_p.H32Y|CDKN2A_ENST00000530628.2_Missense_Mutation_p.A97V	p.A97V			WXS	Illumina HiSeq	Phase_I	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	582	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	0		L -> R (in CMM2; loss of CDK4 binding).			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	ENST00000304494.5	37	c.290C>T	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.7|26.7	4.762523|4.762523	0.89932|0.89932	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000361570;ENST00000530628|ENST00000304494;ENST00000446177	T;T|T;T	0.80393|0.71222	-1.37;-1.31|-0.55;-0.55	5.93|5.93	5.93|5.93	0.95920|0.95920	.|Ankyrin repeat-containing domain (4);	0.000000|.	0.37261|.	N|.	0.002164|.	T|T	0.77579|0.77579	0.4151|0.4151	L|L	0.27053|0.27053	0.805|0.805	0.46521|0.46521	D|D	0.999085|0.999085	P|D	0.47191|0.76494	0.891|0.999	B|D	0.44044|0.75484	0.439|0.986	T|T	0.79024|0.79024	-0.1972|-0.1972	10|9	0.62326|0.66056	D|D	0.03|0.02	-15.192|-15.192	19.1026|19.1026	0.93279|0.93279	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	138|83	Q8N726|P42771	CD2A2_HUMAN|CD2A1_HUMAN	V|Y	138;97|83	ENSP00000355153:A138V;ENSP00000432664:A97V|ENSP00000307101:H83Y;ENSP00000394932:H83Y	ENSP00000355153:A138V|ENSP00000307101:H83Y	A|H	-|-	2|1	0|0	CDKN2A|CDKN2A	21961111|21961111	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.915000|0.915000	0.54546|0.54546	8.665000|8.665000	0.91144|0.91144	2.803000|2.803000	0.96430|0.96430	0.650000|0.650000	0.86243|0.86243	GCA|CAC		0.741	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	0	NM_000077		9:21971111
FRAS1	80144	broad.mit.edu	37	4	79417989	79417989	+	Missense_Mutation	SNP	G	G	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr4:79417989G>T	ENST00000264895.6	+	60	9429	c.8989G>T	c.(8989-8991)Gac>Tac	p.D2997Y		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	2993	Calx-beta 4.				cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TATCCACGATGACTCCATGTT	0.448																																						ENST00000264895.6		NA																	0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(8989-8991)Gac>Tac		Fraser syndrome 1							192.0	187.0	188.0					4																	79417989		1947	4158	6105	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79417989G>T	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.8989G>T	4.37:g.79417989G>T	ENSP00000264895:p.Asp2997Tyr	False	False		Somatic	0					p.D2997Y	NM_025074.6	NP_079350.5	WXS	Illumina HiSeq	Phase_I	Q86XX4	FRAS1_HUMAN			60	9429	+			2992			Calx-beta 4.		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000264895.6	37	c.8989G>T	CCDS54771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.2|21.2	4.113120|4.113120	0.77210|0.77210	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000264895|ENST00000512123	T|.	0.57107|.	0.42|.	5.38|5.38	5.38|5.38	0.77491|0.77491	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.86661|.	0.5986|.	M|M	0.92268|0.92268	3.29|3.29	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|.	0.89622|.	0.3849|.	10|.	0.87932|.	D|.	0|.	.|.	19.1434|19.1434	0.93455|0.93455	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	2997|.	E9PHH6|.	.|.	Y|L	2997|1225	ENSP00000264895:D2997Y|.	ENSP00000264895:D2997Y|.	D|X	+|+	1|2	0|2	FRAS1|FRAS1	79637013|79637013	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.580000|0.580000	0.36256|0.36256	9.594000|9.594000	0.98254|0.98254	2.497000|2.497000	0.84241|0.84241	0.655000|0.655000	0.94253|0.94253	GAC|TGA		0.448	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0			4:79417989
SPANXD	64648	broad.mit.edu	37	X	140785811	140785811	+	Silent	SNP	C	C	T	rs372644465		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chrX:140785811C>T	ENST00000370515.3	-	2	438	c.105G>A	c.(103-105)ccG>ccA	p.P35P		NM_032417.2|NM_145665.1	NP_115793.1|NP_663698.1	Q9BXN6	SPNXD_HUMAN	SPANX family, member D	35						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	Acute lymphoblastic leukemia(192;7.65e-05)					GAGCAGGTTGCGGGTCTGAGT	0.478																																						ENST00000370515.3		NA																	0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(103-105)ccG>ccA		SPANX family, member D		T		0,3830		0,0,0,1632,566	221.0	154.0	177.0		105		0.0	X		177	1,6682		0,0,1,2428,1826	no	coding-synonymous	SPANXD	NM_032417.2		0,0,1,4060,2392	TT,TC,T,CC,C		0.015,0.0,0.0095		35/98	140785811	1,10512	2198	4255	6453	SO:0001819	synonymous_variant	64648							g.chrX:140785811C>T	AJ457791	CCDS14675.1	Xq27.2	2014-06-19			ENSG00000196406	ENSG00000196406			14332	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 4"""	300670, 300671	"""SPANX family, member E"""	SPANXE			Standard	NM_032417		Approved	CT11.4		Q9BXN6	OTTHUMG00000022563	ENST00000370515.3:c.105G>A	X.37:g.140785811C>T		True	False		Somatic	0					p.P35P	NM_032417.2|NM_145665.1	NP_115793.1|NP_663698.1	WXS	Illumina HiSeq	Phase_I					2	438	-	Acute lymphoblastic leukemia(192;7.65e-05)		NA					Q5JWI1	Silent	SNP	ENST00000370515.3	37	c.105G>A	CCDS14675.1																																																																																				0.478	SPANXD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058598.1	0			X:140785811
TNC	3371	broad.mit.edu	37	9	117791711	117791711	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr9:117791711G>A	ENST00000350763.4	-	25	6508	c.6097C>T	c.(6097-6099)Cgc>Tgc	p.R2033C	TNC_ENST00000341037.4_Missense_Mutation_p.R1851C|TNC_ENST00000423613.2_Missense_Mutation_p.R1760C|TNC_ENST00000346706.3_Missense_Mutation_p.R1487C|TNC_ENST00000535648.1_Missense_Mutation_p.R1578C|TNC_ENST00000542877.1_Missense_Mutation_p.R1670C|TNC_ENST00000340094.3_Missense_Mutation_p.R1669C|TNC_ENST00000537320.1_Missense_Mutation_p.R1396C|TNC_ENST00000345230.3_Missense_Mutation_p.R1396C	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	2033	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						AAGTTCTCGCGTCCGTTTTTG	0.463																																						ENST00000350763.4		NA																	0				NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						c.(6097-6099)Cgc>Tgc		tenascin C							174.0	156.0	162.0					9																	117791711		2203	4300	6503	SO:0001583	missense	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117791711G>A		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.6097C>T	9.37:g.117791711G>A	ENSP00000265131:p.Arg2033Cys	False	False		Somatic	0				TNC_ENST00000345230.3_Missense_Mutation_p.R1396C|TNC_ENST00000542877.1_Missense_Mutation_p.R1670C|TNC_ENST00000423613.2_Missense_Mutation_p.R1760C|TNC_ENST00000535648.1_Missense_Mutation_p.R1578C|TNC_ENST00000537320.1_Missense_Mutation_p.R1396C|TNC_ENST00000341037.4_Missense_Mutation_p.R1851C|TNC_ENST00000346706.3_Missense_Mutation_p.R1487C|TNC_ENST00000340094.3_Missense_Mutation_p.R1669C	p.R2033C	NM_002160.3	NP_002151.2	WXS	Illumina HiSeq	Phase_I	P24821	TENA_HUMAN			25	6508	-			2033			Fibrinogen C-terminal.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	c.6097C>T	CCDS6811.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.65|16.65	3.182544|3.182544	0.57800|0.57800	.|.	.|.	ENSG00000041982|ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877|ENST00000544972	T;T;T;T;T;T;T;T;T|.	0.21031|.	2.03;2.03;2.03;2.03;2.03;2.03;2.03;2.03;2.03|.	5.48|5.48	4.53|4.53	0.55603|0.55603	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);|.	0.340153|.	0.30401|.	N|.	0.009704|.	T|T	0.38054|0.38054	0.1026|0.1026	L|L	0.48362|0.48362	1.52|1.52	0.26177|0.26177	N|N	0.979773|0.979773	D;D|.	0.89917|.	1.0;0.999|.	D;D|.	0.71414|.	0.973;0.93|.	T|T	0.32107|0.32107	-0.9919|-0.9919	10|5	0.72032|.	D|.	0.01|.	.|.	3.7527|3.7527	0.08573|0.08573	0.0839:0.1325:0.5337:0.2499|0.0839:0.1325:0.5337:0.2499	.|.	1760;2033|.	E9PC84;P24821|.	.;TENA_HUMAN|.	C|M	1669;1578;1487;1396;2033;1851;1760;1396;1670|595	ENSP00000344400:R1669C;ENSP00000438152:R1578C;ENSP00000344555:R1487C;ENSP00000345861:R1396C;ENSP00000265131:R2033C;ENSP00000339553:R1851C;ENSP00000411406:R1760C;ENSP00000443478:R1396C;ENSP00000442242:R1670C|.	ENSP00000344400:R1669C|.	R|T	-|-	1|2	0|0	TNC|TNC	116831532|116831532	0.934000|0.934000	0.31675|0.31675	0.986000|0.986000	0.45419|0.45419	0.442000|0.442000	0.32017|0.32017	4.235000|4.235000	0.58666|0.58666	2.587000|2.587000	0.87381|0.87381	0.655000|0.655000	0.94253|0.94253	CGC|ACG		0.463	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	0	NM_002160		9:117791711
RCCD1	91433	broad.mit.edu	37	15	91500894	91500894	+	Silent	SNP	G	G	A	rs375710438		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr15:91500894G>A	ENST00000394258.2	+	4	820	c.618G>A	c.(616-618)gcG>gcA	p.A206A	RCCD1_ENST00000555155.1_Silent_p.A206A|RCCD1_ENST00000556774.1_Intron|RCCD1_ENST00000556618.1_Silent_p.A206A|AC068831.6_ENST00000553321.1_RNA	NM_001017919.1|NM_033544.2	NP_001017919.1|NP_291022.2	A6NED2	RCCD1_HUMAN	RCC1 domain containing 1	206						cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|kidney(1)|large_intestine(2)	4	Lung NSC(78;0.0987)|all_lung(78;0.175)		Lung(145;0.189)			TGTTGGAGGCGTTGCAGGGCC	0.607																																						ENST00000394258.2		NA																	0				breast(1)|kidney(1)|large_intestine(2)	4						c.(616-618)gcG>gcA		RCC1 domain containing 1							90.0	86.0	87.0					15																	91500894		2198	4298	6496	SO:0001819	synonymous_variant	91433							g.chr15:91500894G>A		CCDS32333.1	15q26.1	2005-10-21	2005-10-21			ENSG00000166965			30457	protein-coding gene	gene with protein product						12477932	Standard	XM_006720763		Approved	MGC14386	uc002bqk.3	A6NED2		ENST00000394258.2:c.618G>A	15.37:g.91500894G>A		False	False		Somatic	0				RCCD1_ENST00000556618.1_Silent_p.A206A|RCCD1_ENST00000555155.1_Silent_p.A206A|RCCD1_ENST00000556774.1_Intron	p.A206A	NM_001017919.1|NM_033544.2	NP_001017919.1|NP_291022.2	WXS	Illumina HiSeq	Phase_I	A6NED2	RCCD1_HUMAN	Lung(145;0.189)		4	820	+	Lung NSC(78;0.0987)|all_lung(78;0.175)		206					B2RTP9|Q29RX6	Silent	SNP	ENST00000394258.2	37	c.618G>A	CCDS32333.1																																																																																				0.607	RCCD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414748.1	0	NM_033544		15:91500894
MADCAM1	8174	broad.mit.edu	37	19	501739	501739	+	Silent	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:501739G>A	ENST00000215637.3	+	4	784	c.738G>A	c.(736-738)ccG>ccA	p.P246P	MADCAM1_ENST00000587541.1_Silent_p.P27P|AC005775.2_ENST00000592413.1_RNA|MADCAM1_ENST00000346144.4_Intron|MADCAM1_ENST00000382683.4_Intron	NM_130760.2	NP_570116.2	Q13477	MADCA_HUMAN	mucosal vascular addressin cell adhesion molecule 1	246	5.5 X 8 AA tandem repeats of [PS]-P-D-T- T-S-[QP]-E.|Mucin-like.				aging (GO:0007568)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|embryo development (GO:0009790)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding involved in cell-matrix adhesion (GO:0098640)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(10;4.25e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCACCTCCCCGGAGTCTCCCG	0.682																																						ENST00000587541.1		NA																	0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10						c.(79-81)ccG>ccA		mucosal vascular addressin cell adhesion molecule 1																																				SO:0001819	synonymous_variant	8174				cell adhesion|immune response|regulation of immune response|signal transduction	integral to membrane|membrane fraction|plasma membrane		g.chr19:501739G>A	U43628	CCDS12028.1, CCDS12029.1	19p13.3	2013-01-11			ENSG00000099866	ENSG00000099866		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6765	protein-coding gene	gene with protein product	"""mucosal addressin cell adhesion molecule-1"""	102670				9162097, 8609404	Standard	NM_130762		Approved	MACAM1	uc002los.3	Q13477	OTTHUMG00000180548	ENST00000215637.3:c.738G>A	19.37:g.501739G>A		True	False		Somatic	0				MADCAM1_ENST00000382683.4_Intron|AC005775.2_ENST00000592413.1_RNA|MADCAM1_ENST00000346144.4_Intron|MADCAM1_ENST00000215637.3_Silent_p.P246P	p.P27P			WXS	Illumina HiSeq	Phase_I	Q13477	MADCA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	935	+		all_cancers(10;4.25e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	246			Ig-like 1.		A5PKV4|B2RPL9|O60222|O75867|Q5UGI7	Silent	SNP	ENST00000215637.3	37	c.81G>A	CCDS12028.1																																																																																				0.682	MADCAM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451884.1	0	NM_130760		19:501739
PGLYRP3	114771	broad.mit.edu	37	1	153271680	153271680	+	Silent	SNP	C	C	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:153271680C>A	ENST00000290722.1	-	6	808	c.756G>T	c.(754-756)gtG>gtT	p.V252V		NM_052891.1	NP_443123.1	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3	252					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCCCTTCATACACGCCACCAT	0.458																																						ENST00000290722.1		NA																	0				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28						c.(754-756)gtG>gtT		peptidoglycan recognition protein 3							79.0	68.0	71.0					1																	153271680		2203	4300	6503	SO:0001819	synonymous_variant	114771				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	g.chr1:153271680C>A	AY035376	CCDS1035.1	1q21	2008-02-05			ENSG00000159527	ENSG00000159527			30014	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein I alpha precursor"""	608197				11461926	Standard	NM_052891		Approved	PGRPIA, PGLYRPIalpha, PGRP-Ialpha	uc001fbn.1	Q96LB9	OTTHUMG00000014044	ENST00000290722.1:c.756G>T	1.37:g.153271680C>A		False	False		Somatic	0					p.V252V	NM_052891.1	NP_443123.1	WXS	Illumina HiSeq	Phase_I	Q96LB9	PGRP3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		6	808	-	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		252					A1A4U8|Q5SY65	Silent	SNP	ENST00000290722.1	37	c.756G>T	CCDS1035.1																																																																																				0.458	PGLYRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039488.1	0	NM_052891		1:153271680
CD33	945	broad.mit.edu	37	19	51728379	51728379	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:51728379C>T	ENST00000262262.4	+	1	26	c.5C>T	c.(4-6)cCg>cTg	p.P2L	CD33_ENST00000421133.2_Missense_Mutation_p.P2L|CD33_ENST00000391796.3_Missense_Mutation_p.P2L|CD33_ENST00000436584.2_Missense_Mutation_p.P2L	NM_001772.3	NP_001763.3	P20138	CD33_HUMAN	CD33 molecule	2					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|negative regulation of cell proliferation (GO:0008285)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	TCAGACATGCCGCTGCTGCTA	0.652																																						ENST00000436584.2		NA																	0				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24						c.(4-6)cCg>cTg		CD33 molecule	Gemtuzumab ozogamicin(DB00056)						36.0	37.0	36.0					19																	51728379		2203	4300	6503	SO:0001583	missense	945				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding	g.chr19:51728379C>T	M23197	CCDS33084.1, CCDS46157.1, CCDS54299.1	19q13.3	2013-01-29	2006-03-28		ENSG00000105383	ENSG00000105383		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1659	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 3"""	159590	"""CD33 antigen (gp67)"""			3139766, 9465907	Standard	NM_001772		Approved	SIGLEC3, SIGLEC-3, p67, FLJ00391	uc002pwa.2	P20138		ENST00000262262.4:c.5C>T	19.37:g.51728379C>T	ENSP00000262262:p.Pro2Leu	True	False		Somatic	0				CD33_ENST00000391796.3_Missense_Mutation_p.P2L|CD33_ENST00000421133.2_Missense_Mutation_p.P2L|CD33_ENST00000262262.4_Missense_Mutation_p.P2L	p.P2L			WXS	Illumina HiSeq	Phase_I	P20138	CD33_HUMAN		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	1	60	+		all_neural(266;0.0199)	2					B4E3P8|C9JEN7|F8WAL2|Q8TD24	Missense_Mutation	SNP	ENST00000262262.4	37	c.5C>T	CCDS33084.1	.	.	.	.	.	.	.	.	.	.	.	5.629	0.300790	0.10678	.	.	ENSG00000105383	ENST00000436584;ENST00000262262;ENST00000421133;ENST00000391796	T;T;T;T	0.39592	1.07;2.53;1.38;2.41	3.75	-4.49	0.03504	.	.	.	.	.	T	0.11793	0.0287	N	0.02192	-0.645	0.09310	N	1	B;B;B	0.12630	0.006;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.28106	-1.0054	9	0.02654	T	1	.	5.3402	0.15979	0.0:0.2105:0.3616:0.4279	.	2;2;2	C9JEN7;F8WAL2;P20138	.;.;CD33_HUMAN	L	2	ENSP00000403331:P2L;ENSP00000262262:P2L;ENSP00000410126:P2L;ENSP00000375673:P2L	ENSP00000262262:P2L	P	+	2	0	CD33	56420191	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.283000	0.01155	-1.134000	0.02899	-1.099000	0.02127	CCG		0.652	CD33-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464199.2	0	NM_001772		19:51728379
EXOC5	10640	broad.mit.edu	37	14	57698379	57698379	+	Missense_Mutation	SNP	C	C	G			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr14:57698379C>G	ENST00000413566.2	-	11	1352	c.993G>C	c.(991-993)caG>caC	p.Q331H	EXOC5_ENST00000340918.7_Missense_Mutation_p.Q266H	NM_006544.3	NP_006535.1	O00471	EXOC5_HUMAN	exocyst complex component 5	331					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|vesicle docking (GO:0048278)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(3)|endometrium(1)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	22						ACAAGAAAGTCTGTTTATCAG	0.343																																						ENST00000413566.2		NA																	0				breast(3)|endometrium(1)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	22						c.(991-993)caG>caC		exocyst complex component 5							72.0	68.0	69.0					14																	57698379		1823	4079	5902	SO:0001583	missense	10640				exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking	cytoplasm		g.chr14:57698379C>G	U85946	CCDS45111.1	14q22.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000070367	ENSG00000070367			10696	protein-coding gene	gene with protein product		604469	"""SEC10 (S. cerevisiae)-like 1"", ""SEC10-like 1 (S. cerevisiae)"""	SEC10L1		9119050	Standard	XM_005267272		Approved	SEC10, SEC10P	uc001xct.3	O00471	OTTHUMG00000171309	ENST00000413566.2:c.993G>C	14.37:g.57698379C>G	ENSP00000389934:p.Gln331His	False	False		Somatic	0				EXOC5_ENST00000340918.7_Missense_Mutation_p.Q266H	p.Q331H	NM_006544.3	NP_006535.1	WXS	Illumina HiSeq	Phase_I	O00471	EXOC5_HUMAN			11	1352	-			331					B2R6C5	Missense_Mutation	SNP	ENST00000413566.2	37	c.993G>C	CCDS45111.1	.	.	.	.	.	.	.	.	.	.	C	13.45	2.240468	0.39598	.	.	ENSG00000070367	ENST00000413566;ENST00000340918	T;T	0.44482	0.92;0.92	5.62	5.62	0.85841	.	0.048260	0.85682	D	0.000000	T	0.23766	0.0575	N	0.02539	-0.55	0.51767	D	0.999934	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.08617	-1.0713	10	0.33940	T	0.23	-8.6151	20.0333	0.97547	0.0:1.0:0.0:0.0	.	266;331	F8W9B8;O00471	.;EXOC5_HUMAN	H	331;266	ENSP00000389934:Q331H;ENSP00000342100:Q266H	ENSP00000342100:Q266H	Q	-	3	2	EXOC5	56768132	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.013000	0.57138	2.810000	0.96702	0.585000	0.79938	CAG		0.343	EXOC5-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412905.1	0	NM_006544		14:57698379
ZNF471	57573	broad.mit.edu	37	19	57036821	57036821	+	Missense_Mutation	SNP	A	A	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:57036821A>T	ENST00000308031.5	+	5	1518	c.1385A>T	c.(1384-1386)aAg>aTg	p.K462M	ZNF471_ENST00000593197.1_Intron|ZNF471_ENST00000591537.1_3'UTR	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	462					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		TATGAATGCAAGGAATGTGGG	0.378																																					Colon(65;957 1402 6678 10163)|Esophageal Squamous(159;2295 2541 15408 21211)	ENST00000308031.5		NA																	0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36						c.(1384-1386)aAg>aTg		zinc finger protein 471							87.0	83.0	84.0					19																	57036821		2203	4300	6503	SO:0001583	missense	57573				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57036821A>T	AB037817	CCDS12945.1	19q13.43	2013-01-08				ENSG00000196263		"""Zinc fingers, C2H2-type"", ""-"""	23226	protein-coding gene	gene with protein product						10718198	Standard	NM_020813		Approved	KIAA1396, Z1971	uc002qnh.3	Q9BX82		ENST00000308031.5:c.1385A>T	19.37:g.57036821A>T	ENSP00000309161:p.Lys462Met	False	False		Somatic	0				ZNF471_ENST00000593197.1_Intron|ZNF471_ENST00000591537.1_3'UTR	p.K462M	NM_020813.2	NP_065864.2	WXS	Illumina HiSeq	Phase_I	Q9BX82	ZN471_HUMAN		GBM - Glioblastoma multiforme(193;0.0307)	5	1518	+		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	462					B4DF32|O75260|Q08AD6|Q08AD7|Q8N3V1|Q9P2F1	Missense_Mutation	SNP	ENST00000308031.5	37	c.1385A>T	CCDS12945.1	.	.	.	.	.	.	.	.	.	.	A	12.94	2.089753	0.36855	.	.	ENSG00000196263	ENST00000308031	T	0.08193	3.12	3.66	2.64	0.31445	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19446	0.0467	M	0.68317	2.08	0.09310	N	0.999999	D	0.69078	0.997	P	0.62649	0.905	T	0.09015	-1.0694	9	0.56958	D	0.05	.	4.605	0.12372	0.6982:0.1949:0.1069:0.0	.	462	Q9BX82	ZN471_HUMAN	M	462	ENSP00000309161:K462M	ENSP00000309161:K462M	K	+	2	0	ZNF471	61728633	0.000000	0.05858	0.954000	0.39281	0.962000	0.63368	-1.500000	0.02283	0.496000	0.27904	0.379000	0.24179	AAG		0.378	ZNF471-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458405.1	0	NM_020813		19:57036821
ARF1	375	broad.mit.edu	37	1	228285699	228285699	+	Silent	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:228285699C>T	ENST00000541182.1	+	5	793	c.531C>T	c.(529-531)ctC>ctT	p.L177L	MIR3620_ENST00000584469.1_RNA|ARF1_ENST00000272102.5_Silent_p.L177L|ARF1_ENST00000540651.1_Silent_p.L177L|ARF1_ENST00000478424.1_3'UTR|C1orf35_ENST00000472617.1_5'Flank	NM_001024227.1|NM_001024228.1	NP_001019398.1|NP_001019399.1	P84077	ARF1_HUMAN	ADP-ribosylation factor 1	177					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular copper ion homeostasis (GO:0006878)|COPI coating of Golgi vesicle (GO:0048205)|dendritic spine organization (GO:0097061)|GTP catabolic process (GO:0006184)|long term synaptic depression (GO:0060292)|membrane organization (GO:0061024)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|regulation of Arp2/3 complex-mediated actin nucleation (GO:0034315)|regulation of defense response to virus by virus (GO:0050690)|regulation of receptor internalization (GO:0002090)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	10		Prostate(94;0.0405)				CCAATCAGCTCCGGAACCAGA	0.602																																						ENST00000541182.1		NA																	0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	10						c.(529-531)ctC>ctT		ADP-ribosylation factor 1							70.0	60.0	63.0					1																	228285699		2203	4300	6503	SO:0001819	synonymous_variant	375				cellular copper ion homeostasis|COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|protein transport|regulation of defense response to virus by virus|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction|viral reproduction	cytosol|Golgi membrane|perinuclear region of cytoplasm|plasma membrane	GTP binding|GTPase activity|protein binding|receptor signaling protein activity	g.chr1:228285699C>T	M84326	CCDS1565.1	1q42.13	2014-01-30			ENSG00000143761	ENSG00000143761		"""ADP-ribosylation factors"", ""Endogenous ligands"""	652	protein-coding gene	gene with protein product		103180				1577740	Standard	NM_001658		Approved		uc001hrr.3	P84077	OTTHUMG00000037595	ENST00000541182.1:c.531C>T	1.37:g.228285699C>T		False	False		Somatic	0				ARF1_ENST00000272102.5_Silent_p.L177L|ARF1_ENST00000540651.1_Silent_p.L177L|ARF1_ENST00000478424.1_3'UTR	p.L177L	NM_001024227.1|NM_001024228.1	NP_001019398.1|NP_001019399.1	WXS	Illumina HiSeq	Phase_I	P84077	ARF1_HUMAN			5	793	+		Prostate(94;0.0405)	177					P10947|P32889	Silent	SNP	ENST00000541182.1	37	c.531C>T	CCDS1565.1																																																																																				0.602	ARF1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091650.1	0	NM_001024227		1:228285699
NRP2	8828	broad.mit.edu	37	2	206581077	206581077	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr2:206581077C>T	ENST00000357785.5	+	3	443	c.412C>T	c.(412-414)Cgc>Tgc	p.R138C	NRP2_ENST00000355117.4_Missense_Mutation_p.R138C|NRP2_ENST00000360409.3_Missense_Mutation_p.R138C|NRP2_ENST00000357118.4_Missense_Mutation_p.R138C|NRP2_ENST00000540841.1_Missense_Mutation_p.R138C|NRP2_ENST00000540178.1_Missense_Mutation_p.R138C|NRP2_ENST00000417189.1_Missense_Mutation_p.R138C|NRP2_ENST00000412873.2_Missense_Mutation_p.R138C|NRP2_ENST00000272849.3_Missense_Mutation_p.R138C			Q99435	NELL2_HUMAN	neuropilin 2	0	Laminin G-like.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						CTTCTCTCTGCGCTACGAGAT	0.617																																						ENST00000360409.3		NA																	0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						c.(412-414)Cgc>Tgc		neuropilin 2							72.0	72.0	72.0					2																	206581077		2203	4300	6503	SO:0001583	missense	8828				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity	g.chr2:206581077C>T	AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000357785.5:c.412C>T	2.37:g.206581077C>T	ENSP00000350432:p.Arg138Cys	False	False		Somatic	0				NRP2_ENST00000417189.1_Missense_Mutation_p.R138C|NRP2_ENST00000412873.2_Missense_Mutation_p.R138C|NRP2_ENST00000540841.1_Missense_Mutation_p.R138C|NRP2_ENST00000357785.5_Missense_Mutation_p.R138C|NRP2_ENST00000357118.4_Missense_Mutation_p.R138C|NRP2_ENST00000355117.4_Missense_Mutation_p.R138C|NRP2_ENST00000272849.3_Missense_Mutation_p.R138C|NRP2_ENST00000540178.1_Missense_Mutation_p.R138C	p.R138C	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718|NP_958436.1	WXS	Illumina HiSeq	Phase_I	O60462	NRP2_HUMAN			3	1203	+			138			CUB 1.		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000357785.5	37	c.412C>T	CCDS46496.1	.	.	.	.	.	.	.	.	.	.	C	34	5.331934	0.95733	.	.	ENSG00000118257	ENST00000360409;ENST00000540178;ENST00000540841;ENST00000355117;ENST00000417189;ENST00000357118;ENST00000357785;ENST00000412873;ENST00000272849	T;T;T;T;T;T;T;T;T	0.19532	2.14;2.14;2.14;2.14;2.14;2.14;2.14;2.14;2.14	6.17	6.17	0.99709	CUB (5);	0.000000	0.85682	D	0.000000	T	0.59142	0.2172	M	0.91920	3.255	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;P;D;D;D	0.79108	0.983;0.983;0.9;0.992;0.992;0.971	T	0.65187	-0.6229	10	0.87932	D	0	-22.1386	20.8794	0.99867	0.0:1.0:0.0:0.0	.	138;138;138;138;138;138	O60462-2;O60462-3;O60462;O60462-4;O60462-5;E9PF66	.;.;NRP2_HUMAN;.;.;.	C	138	ENSP00000353582:R138C;ENSP00000439658:R138C;ENSP00000439261:R138C;ENSP00000347238:R138C;ENSP00000387519:R138C;ENSP00000349632:R138C;ENSP00000350432:R138C;ENSP00000407626:R138C;ENSP00000272849:R138C	ENSP00000272849:R138C	R	+	1	0	NRP2	206289322	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	CGC		0.617	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336467.1	0			2:206581077
HSPG2	3339	broad.mit.edu	37	1	22186350	22186350	+	Silent	SNP	G	G	A	rs138980184	byFrequency	TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:22186350G>A	ENST00000374695.3	-	41	5239	c.5160C>T	c.(5158-5160)agC>agT	p.S1720S		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	1720	Ig-like C2-type 2.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	GCTGGGTGCCGCTGGGCACAG	0.662													G|||	4	0.000798722	0.0	0.0	5008	,	,		17602	0.0		0.004	False		,,,				2504	0.0					ENST00000374695.3		NA																	0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(5158-5160)agC>agT		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)	G		1,4403	2.1+/-5.4	0,1,2201	27.0	27.0	27.0		5160	4.0	1.0	1	dbSNP_134	27	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous	HSPG2	NM_005529.5		0,6,6496	AA,AG,GG		0.0581,0.0227,0.0461		1720/4392	22186350	6,12998	2202	4300	6502	SO:0001819	synonymous_variant	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22186350G>A	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.5160C>T	1.37:g.22186350G>A		False	False		Somatic	0					p.S1720S	NM_005529.5	NP_005520.4	WXS	Illumina HiSeq	Phase_I	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	41	5239	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	1720			Ig-like C2-type 2.		Q16287|Q5SZI3|Q9H3V5	Silent	SNP	ENST00000374695.3	37	c.5160C>T	CCDS30625.1																																																																																				0.662	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	0	NM_005529		1:22186350
SMCHD1	23347	broad.mit.edu	37	18	2739500	2739500	+	Missense_Mutation	SNP	G	G	C			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr18:2739500G>C	ENST00000320876.6	+	27	3834	c.3496G>C	c.(3496-3498)Gag>Cag	p.E1166Q	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.E1166Q	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1166					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						GATGGGCCAAGAGCTTCAAGG	0.338																																						ENST00000320876.6		NA																	0				NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						c.(3496-3498)Gag>Cag		structural maintenance of chromosomes flexible hinge domain containing 1							85.0	77.0	80.0					18																	2739500		1842	4084	5926	SO:0001583	missense	23347				chromosome organization		ATP binding	g.chr18:2739500G>C	AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.3496G>C	18.37:g.2739500G>C	ENSP00000326603:p.Glu1166Gln	False	False		Somatic	0				RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.E1166Q	p.E1166Q	NM_015295.2	NP_056110.2	WXS	Illumina HiSeq	Phase_I	A6NHR9	SMHD1_HUMAN			27	3834	+			1166					O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	ENST00000320876.6	37	c.3496G>C	CCDS45822.1	.	.	.	.	.	.	.	.	.	.	G	18.01	3.527477	0.64860	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	T;T	0.23552	1.9;1.91	5.61	5.61	0.85477	.	0.195294	0.46758	D	0.000274	T	0.32526	0.0832	L	0.51422	1.61	0.39011	D	0.959543	P	0.45044	0.849	P	0.45377	0.478	T	0.03157	-1.1066	10	0.32370	T	0.25	-17.716	18.627	0.91344	0.0:0.0:1.0:0.0	.	1166	A6NHR9	SMHD1_HUMAN	Q	1166	ENSP00000326603:E1166Q;ENSP00000261598:E1166Q	ENSP00000261598:E1166Q	E	+	1	0	SMCHD1	2729500	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.796000	0.75145	2.642000	0.89623	0.650000	0.86243	GAG		0.338	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2	0			18:2739500
MECOM	2122	broad.mit.edu	37	3	168845679	168845679	+	Silent	SNP	C	C	T	rs150481592		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:168845679C>T	ENST00000464456.1	-	4	1419	c.219G>A	c.(217-219)acG>acA	p.T73T	MECOM_ENST00000264674.3_Silent_p.T137T|MECOM_ENST00000392736.3_Silent_p.T73T|MECOM_ENST00000460814.1_Silent_p.T73T|MECOM_ENST00000433243.2_Silent_p.T73T|MECOM_ENST00000468789.1_Silent_p.T73T|MECOM_ENST00000472280.1_Silent_p.T73T|MECOM_ENST00000494292.1_Silent_p.T261T	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						ACTCCTGGATCGTGTGTATCT	0.388													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20544	0.0		0.0	False		,,,				2504	0.0					ENST00000464456.1		NA																	0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						c.(217-219)acG>acA		MDS1 and EVI1 complex locus		C	,,,,,,	4,4402	8.1+/-20.4	0,4,2199	176.0	165.0	169.0		411,219,219,219,219,783,219	-2.1	0.0	3	dbSNP_134	169	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	MECOM	NM_001105077.3,NM_001105078.3,NM_001163999.1,NM_001164000.1,NM_001205194.1,NM_004991.3,NM_005241.3	,,,,,,	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	,,,,,,	137/1117,73/1052,73/1044,73/1043,73/1052,261/1240,73/1052	168845679	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	2122						sequence-specific DNA binding transcription factor activity	g.chr3:168845679C>T	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.219G>A	3.37:g.168845679C>T		True	False		Somatic	0				MECOM_ENST00000433243.2_Silent_p.T73T|MECOM_ENST00000264674.3_Silent_p.T137T|MECOM_ENST00000460814.1_Silent_p.T73T|MECOM_ENST00000468789.1_Silent_p.T73T|MECOM_ENST00000392736.3_Silent_p.T73T|MECOM_ENST00000472280.1_Silent_p.T73T|MECOM_ENST00000494292.1_Silent_p.T261T	p.T73T	NM_001164000.1	NP_001157472.1	WXS	Illumina HiSeq	Phase_I	Q13465	MDS1_HUMAN			4	1419	-			0					Q13466|Q6FH90	Silent	SNP	ENST00000464456.1	37	c.219G>A	CCDS54669.1																																																																																				0.388	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	0	NM_005241, NM_004991		3:168845679
SHANK2	22941	broad.mit.edu	37	11	70333392	70333392	+	Silent	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr11:70333392G>A	ENST00000423696.2	-	15	1905	c.1869C>T	c.(1867-1869)gtC>gtT	p.V623V	SHANK2_ENST00000449833.2_Silent_p.V407V|SHANK2_ENST00000338508.4_Silent_p.V1003V|SHANK2_ENST00000409161.1_Silent_p.V406V			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	623					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GCTTGGCGGGGACGTAGACGG	0.617																																						ENST00000338508.4		NA																	0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(3007-3009)gtC>gtT		SH3 and multiple ankyrin repeat domains 2							116.0	124.0	122.0					11																	70333392		2200	4294	6494	SO:0001819	synonymous_variant	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70333392G>A	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.1869C>T	11.37:g.70333392G>A		True	False		Somatic	0				SHANK2_ENST00000423696.2_Silent_p.V623V|SHANK2_ENST00000409161.1_Silent_p.V406V|SHANK2_ENST00000449833.2_Silent_p.V407V	p.V1003V			WXS	Illumina HiSeq	Phase_I	Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		32	3008	-			623					C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Silent	SNP	ENST00000423696.2	37	c.3009C>T																																																																																					0.617	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		0	NM_012309		11:70333392
DDC	1644	broad.mit.edu	37	7	50595897	50595897	+	Missense_Mutation	SNP	G	G	C			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr7:50595897G>C	ENST00000444124.2	-	6	852	c.652C>G	c.(652-654)Cgt>Ggt	p.R218G	DDC_ENST00000489162.1_5'UTR|DDC_ENST00000431062.1_Intron|DDC_ENST00000357936.5_Missense_Mutation_p.R218G|DDC_ENST00000426377.1_Missense_Mutation_p.R140G|DDC_ENST00000380984.4_Missense_Mutation_p.R218G	NM_001082971.1	NP_001076440	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	218					catecholamine biosynthetic process (GO:0042423)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to growth factor stimulus (GO:0071363)|circadian rhythm (GO:0007623)|dopamine biosynthetic process (GO:0042416)|indolalkylamine biosynthetic process (GO:0046219)|isoquinoline alkaloid metabolic process (GO:0033076)|multicellular organismal aging (GO:0010259)|phytoalexin metabolic process (GO:0052314)|response to pyrethroid (GO:0046684)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)|synaptic vesicle amine transport (GO:0015842)	axon (GO:0030424)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|synaptic vesicle (GO:0008021)	amino acid binding (GO:0016597)|aromatic-L-amino-acid decarboxylase activity (GO:0004058)|enzyme binding (GO:0019899)|L-dopa decarboxylase activity (GO:0036468)|pyridoxal phosphate binding (GO:0030170)			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Cycloserine(DB00260)|Droxidopa(DB06262)|Flupentixol(DB00875)|L-DOPA(DB01235)|L-Tryptophan(DB00150)|Methyldopa(DB00968)	GCAGACGCACGCATGGCGAAG	0.532																																						ENST00000444124.2		NA																	0				breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40						c.(652-654)Cgt>Ggt		dopa decarboxylase (aromatic L-amino acid decarboxylase)	Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)						100.0	98.0	98.0					7																	50595897		2203	4300	6503	SO:0001583	missense	1644				cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr7:50595897G>C		CCDS5511.1, CCDS56485.1, CCDS56486.1, CCDS56487.1, CCDS75598.1, CCDS75599.1	7p12.1	2012-08-30			ENSG00000132437	ENSG00000132437	4.1.1.28		2719	protein-coding gene	gene with protein product		107930				1612608	Standard	NM_001082971		Approved	AADC	uc003tpf.4	P20711	OTTHUMG00000023353	ENST00000444124.2:c.652C>G	7.37:g.50595897G>C	ENSP00000403644:p.Arg218Gly	True	False		Somatic	0				DDC_ENST00000489162.1_5'UTR|DDC_ENST00000431062.1_Intron|DDC_ENST00000357936.5_Missense_Mutation_p.R218G|DDC_ENST00000426377.1_Missense_Mutation_p.R140G|DDC_ENST00000380984.4_Missense_Mutation_p.R218G	p.R218G	NM_001082971.1	NP_001076440	WXS	Illumina HiSeq	Phase_I	P20711	DDC_HUMAN			6	852	-	Glioma(55;0.08)|all_neural(89;0.245)		218					C9IYA0|E7ER62|E7EU95|Q16723|Q5W5T9|Q75MJ6	Missense_Mutation	SNP	ENST00000444124.2	37	c.652C>G	CCDS5511.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.67|16.67	3.186512|3.186512	0.57909|0.57909	.|.	.|.	ENSG00000132437|ENSG00000132437	ENST00000430300|ENST00000357936;ENST00000426377;ENST00000444124;ENST00000380984	.|T;T;T;T	.|0.38560	.|1.13;1.13;1.13;1.13	6.06|6.06	4.2|4.2	0.49525|0.49525	.|Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	.|0.102551	.|0.64402	.|D	.|0.000006	T|T	0.65186|0.65186	0.2667|0.2667	H|H	0.95187|0.95187	3.635|3.635	0.48632|0.48632	D|D	0.999681|0.999681	.|B;B	.|0.33103	.|0.397;0.397	.|B;B	.|0.43251	.|0.413;0.413	T|T	0.71807|0.71807	-0.4481|-0.4481	5|10	.|0.87932	.|D	.|0	-7.8105|-7.8105	14.373|14.373	0.66854|0.66854	0.0:0.0:0.7221:0.2779|0.0:0.0:0.7221:0.2779	.|.	.|218;218	.|Q53Y41;P20711	.|.;DDC_HUMAN	W|G	98|218;140;218;218	.|ENSP00000350616:R218G;ENSP00000395069:R140G;ENSP00000403644:R218G;ENSP00000370371:R218G	.|ENSP00000350616:R218G	C|R	-|-	3|1	2|0	DDC|DDC	50563391|50563391	1.000000|1.000000	0.71417|0.71417	0.906000|0.906000	0.35671|0.35671	0.564000|0.564000	0.35744|0.35744	1.378000|1.378000	0.34328|0.34328	0.826000|0.826000	0.34661|0.34661	0.650000|0.650000	0.86243|0.86243	TGC|CGT		0.532	DDC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342593.1	0			7:50595897
CFAP58	159686	broad.mit.edu	37	10	106118265	106118265	+	Missense_Mutation	SNP	G	G	A	rs534892585		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr10:106118265G>A	ENST00000369704.3	+	2	310	c.176G>A	c.(175-177)cGt>cAt	p.R59H	CCDC147_ENST00000312902.5_5'UTR	NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN		59						extracellular space (GO:0005615)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		AATGAAAAGCGTCTGATGGCC	0.423													G|||	1	0.000199681	0.0	0.0	5008	,	,		18364	0.0		0.001	False		,,,				2504	0.0					ENST00000369704.3		NA																	0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(175-177)cGt>cAt		coiled-coil domain containing 147							79.0	71.0	74.0					10																	106118265		2203	4300	6503	SO:0001583	missense	159686							g.chr10:106118265G>A																												ENST00000369704.3:c.176G>A	10.37:g.106118265G>A	ENSP00000358718:p.Arg59His	False	False		Somatic	0				CCDC147_ENST00000312902.5_5'UTR	p.R59H	NM_001008723.1	NP_001008723.1	WXS	Illumina HiSeq	Phase_I	Q5T655	CC147_HUMAN		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)	2	310	+		Colorectal(252;0.103)|Breast(234;0.122)	59					D3DRA6|Q8NA27	Missense_Mutation	SNP	ENST00000369704.3	37	c.176G>A	CCDS31282.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.288041	0.80803	.	.	ENSG00000120051	ENST00000369704	T	0.37058	1.22	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.51024	0.1650	M	0.91090	3.175	0.80722	D	1	P	0.46020	0.871	B	0.42214	0.38	T	0.62718	-0.6795	10	0.52906	T	0.07	-6.117	15.0736	0.72059	0.0699:0.0:0.9301:0.0	.	59	Q5T655	CC147_HUMAN	H	59	ENSP00000358718:R59H	ENSP00000358718:R59H	R	+	2	0	CCDC147	106108255	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.732000	0.74790	2.785000	0.95823	0.655000	0.94253	CGT		0.423	CCDC147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050216.1	0			10:106118265
LRRTM1	347730	broad.mit.edu	37	2	80529763	80529763	+	Silent	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr2:80529763G>A	ENST00000295057.3	-	2	1838	c.1182C>T	c.(1180-1182)ctC>ctT	p.L394L	CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000541047.1_Intron|LRRTM1_ENST00000409148.1_Silent_p.L394L	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	394					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						CGCCGTCCGCGAGCGTGGTGG	0.716										HNSCC(69;0.2)																												ENST00000295057.3		NA																	0				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						c.(1180-1182)ctC>ctT		leucine rich repeat transmembrane neuronal 1							18.0	20.0	19.0					2																	80529763		2186	4273	6459	SO:0001819	synonymous_variant	347730					axon|endoplasmic reticulum membrane|growth cone|integral to membrane		g.chr2:80529763G>A	AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.1182C>T	2.37:g.80529763G>A		False	False	HNSCC(69;0.2)	Somatic	0				CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000466387.1_Intron|LRRTM1_ENST00000409148.1_Silent_p.L394L|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000540488.1_Intron	p.L394L	NM_178839.4	NP_849161.2	WXS	Illumina HiSeq	Phase_I	Q86UE6	LRRT1_HUMAN			2	1838	-			394					A8K397|D6W5K1|Q96DN1	Silent	SNP	ENST00000295057.3	37	c.1182C>T	CCDS1966.1																																																																																				0.716	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	0	NM_178839		2:80529763
ACAN	176	broad.mit.edu	37	15	89402244	89402244	+	Missense_Mutation	SNP	G	G	C			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr15:89402244G>C	ENST00000561243.1	+	11	6428	c.6428G>C	c.(6427-6429)aGa>aCa	p.R2143T	ACAN_ENST00000559004.1_Missense_Mutation_p.R2143T|ACAN_ENST00000439576.2_Missense_Mutation_p.R2143T|ACAN_ENST00000352105.7_Missense_Mutation_p.R2143T			P16112	PGCA_HUMAN	aggrecan	2028	CS-2.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			AACCTTGAGAGATCCTCTGGC	0.577																																						ENST00000439576.2		NA																	0				NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(6427-6429)aGa>aCa		aggrecan							77.0	82.0	80.0					15																	89402244		2089	4222	6311	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89402244G>C	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.6428G>C	15.37:g.89402244G>C	ENSP00000453342:p.Arg2143Thr	True	False		Somatic	0				ACAN_ENST00000561243.1_Missense_Mutation_p.R2143T|ACAN_ENST00000352105.7_Missense_Mutation_p.R2143T|ACAN_ENST00000559004.1_Missense_Mutation_p.R2143T	p.R2143T	NM_013227.3	NP_037359.3	WXS	Illumina HiSeq	Phase_I	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		12	6802	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		2143					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.6428G>C	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-3.123810	0.00031	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.01804	4.8;4.63	4.78	0.0257	0.14146	.	1.021840	0.07884	N	0.969992	T	0.00875	0.0029	N	0.03608	-0.345	0.09310	N	1	B;B	0.22346	0.041;0.068	B;B	0.17433	0.018;0.018	T	0.48479	-0.9032	10	0.13108	T	0.6	2.0912	4.3001	0.10920	0.1066:0.5139:0.2441:0.1353	.	2143;2143	E7ENV9;E7EX88	.;.	T	2143;2143;2029	ENSP00000387356:R2143T;ENSP00000341615:R2143T	ENSP00000268134:R2029T	R	+	2	0	ACAN	87203248	0.000000	0.05858	0.010000	0.14722	0.065000	0.16274	-0.708000	0.05035	0.410000	0.25675	0.555000	0.69702	AGA		0.577	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	0	NM_001135		15:89402244
ARHGAP4	393	broad.mit.edu	37	X	153187163	153187163	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chrX:153187163C>T	ENST00000350060.5	-	2	208	c.167G>A	c.(166-168)cGc>cAc	p.R56H	ARHGAP4_ENST00000370028.3_Missense_Mutation_p.R56H|ARHGAP4_ENST00000393721.1_Missense_Mutation_p.R56H|ARHGAP4_ENST00000537206.1_Missense_Mutation_p.R33H|ARHGAP4_ENST00000370016.1_Missense_Mutation_p.R56H	NM_001666.4	NP_001657.3	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	56	FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.				apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|negative regulation of axon extension (GO:0030517)|negative regulation of fibroblast migration (GO:0010764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)	Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CACCTCAGCGCGGCGCCGCAT	0.697																																						ENST00000370028.3		NA																	0				central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14						c.(166-168)cGc>cAc		Rho GTPase activating protein 4							9.0	10.0	10.0					X																	153187163		2187	4263	6450	SO:0001583	missense	393				apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chrX:153187163C>T	X78817	CCDS14736.1, CCDS55540.1	Xq28	2010-02-09			ENSG00000089820	ENSG00000089820		"""Rho GTPase activating proteins"""	674	protein-coding gene	gene with protein product	"""Rho-GAP hematopoietic protein C1"""	300023				8570618	Standard	NM_001666		Approved	KIAA0131, C1, p115, RhoGAP4, SrGAP4	uc004fjk.2	P98171	OTTHUMG00000024226	ENST00000350060.5:c.167G>A	X.37:g.153187163C>T	ENSP00000203786:p.Arg56His	False	False		Somatic	0				ARHGAP4_ENST00000393721.1_Missense_Mutation_p.R56H|ARHGAP4_ENST00000537206.1_Missense_Mutation_p.R33H|ARHGAP4_ENST00000350060.5_Missense_Mutation_p.R56H|ARHGAP4_ENST00000370016.1_Missense_Mutation_p.R56H	p.R56H	NM_001164741.1	NP_001158213.1	WXS	Illumina HiSeq	Phase_I	P98171	RHG04_HUMAN			2	224	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		56			FCH.		Q14144|Q86UY3	Missense_Mutation	SNP	ENST00000350060.5	37	c.167G>A	CCDS14736.1	.	.	.	.	.	.	.	.	.	.	C	15.61	2.885319	0.51908	.	.	ENSG00000089820	ENST00000393721;ENST00000370028;ENST00000350060;ENST00000370016;ENST00000537206;ENST00000442262;ENST00000422091	T;T;T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.57;0.57;0.57	5.08	5.08	0.68730	Fps/Fes/Fer/CIP4 homology (3);	0.000000	0.41194	D	0.000933	T	0.64853	0.2636	L	0.60455	1.87	0.19775	N	0.99996	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.58702	-0.7590	10	0.87932	D	0	.	7.4388	0.27171	0.0:0.8068:0.0:0.1932	.	56;56	Q86UY3;P98171	.;RHG04_HUMAN	H	56;56;56;56;33;33;33	ENSP00000377322:R56H;ENSP00000359045:R56H;ENSP00000203786:R56H;ENSP00000359033:R56H;ENSP00000444169:R33H;ENSP00000398259:R33H;ENSP00000413782:R33H	ENSP00000203786:R56H	R	-	2	0	ARHGAP4	152840357	0.630000	0.27155	0.141000	0.22245	0.297000	0.27493	2.726000	0.47302	2.262000	0.75019	0.436000	0.28706	CGC		0.697	ARHGAP4-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061119.1	0	NM_001666		X:153187163
NTNG1	22854	broad.mit.edu	37	1	107961223	107961223	+	Intron	SNP	T	T	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:107961223T>A	ENST00000370068.1	+	5	1933				NTNG1_ENST00000370072.3_Intron|NTNG1_ENST00000370074.4_Intron|NTNG1_ENST00000370073.2_Intron|NTNG1_ENST00000370070.2_Missense_Mutation_p.I370K|NTNG1_ENST00000370065.1_Intron|NTNG1_ENST00000370061.3_Missense_Mutation_p.I370K|NTNG1_ENST00000370071.2_Missense_Mutation_p.I370K|NTNG1_ENST00000542803.1_Intron|NTNG1_ENST00000370066.1_Missense_Mutation_p.I370K|NTNG1_ENST00000370067.1_Missense_Mutation_p.I370K			Q9Y2I2	NTNG1_HUMAN	netrin G1						axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		TTTAATAGGATATGGCCGAAT	0.368																																						ENST00000370067.1		NA																	0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37						c.(1108-1110)aTa>aAa		netrin G1							110.0	94.0	99.0					1																	107961223		1567	3582	5149	SO:0001627	intron_variant	22854				axonogenesis	anchored to plasma membrane	protein binding	g.chr1:107961223T>A	AB023193	CCDS30785.1, CCDS44179.1, CCDS44180.1	1p13.2-p13.1	2013-03-01			ENSG00000162631	ENSG00000162631		"""Netrins"""	23319	protein-coding gene	gene with protein product	"""netrin G1f"", ""Netrin-G1"""	608818				10964959	Standard	NM_001113226		Approved	KIAA0976, Lmnt1	uc001dvh.4	Q9Y2I2	OTTHUMG00000010965	ENST00000370068.1:c.1087+10893T>A	1.37:g.107961223T>A		False	False		Somatic	0				NTNG1_ENST00000370072.3_Intron|NTNG1_ENST00000370061.3_Missense_Mutation_p.I370K|NTNG1_ENST00000370068.1_Intron|NTNG1_ENST00000370074.4_Intron|NTNG1_ENST00000370073.2_Intron|NTNG1_ENST00000370071.2_Missense_Mutation_p.I370K|NTNG1_ENST00000370070.2_Missense_Mutation_p.I370K|NTNG1_ENST00000370066.1_Missense_Mutation_p.I370K|NTNG1_ENST00000542803.1_Intron|NTNG1_ENST00000370065.1_Intron	p.I370K			WXS	Illumina HiSeq	Phase_I	Q9Y2I2	NTNG1_HUMAN		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)	6	1736	+		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)	378			Laminin EGF-like 2.		Q5VU86|Q5VU87|Q5VU89|Q5VU90|Q5VU91|Q7Z2Y3|Q8N633	Missense_Mutation	SNP	ENST00000370068.1	37	c.1109T>A	CCDS44180.1	.	.	.	.	.	.	.	.	.	.	T	12.89	2.074953	0.36566	.	.	ENSG00000162631	ENST00000370071;ENST00000370061;ENST00000370070;ENST00000370064;ENST00000370062;ENST00000370067;ENST00000370066	T;T;T;T;T	0.70516	-0.3;0.16;-0.49;-0.48;-0.3	5.92	4.78	0.61160	.	.	.	.	.	T	0.29684	0.0741	N	0.08118	0	0.26420	N	0.976116	B;P	0.34757	0.0;0.467	B;B	0.31547	0.001;0.132	T	0.11891	-1.0569	9	0.29301	T	0.29	.	12.4919	0.55905	0.1254:0.0:0.0:0.8746	.	370;370	B4DKF0;Q9Y2I2-4	.;.	K	370;370;370;131;131;370;370	ENSP00000359088:I370K;ENSP00000359078:I370K;ENSP00000359087:I370K;ENSP00000359084:I370K;ENSP00000359083:I370K	ENSP00000359078:I370K	I	+	2	0	NTNG1	107762746	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.298000	0.51818	1.046000	0.40249	0.455000	0.32223	ATA		0.368	NTNG1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000030340.1	0	NM_014917		1:107961223
PITPNM2	57605	broad.mit.edu	37	12	123470864	123470864	+	Nonsense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:123470864G>A	ENST00000542749.1	-	24	3823	c.3760C>T	c.(3760-3762)Cag>Tag	p.Q1254*	PITPNM2_ENST00000320201.4_Nonsense_Mutation_p.Q1254*|PITPNM2_ENST00000392428.1_Nonsense_Mutation_p.Q975*|PITPNM2_ENST00000280562.5_Nonsense_Mutation_p.Q1248*			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	1254					metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		TACTTCAGCTGCGCCAGGTGG	0.726																																						ENST00000280562.5		NA																	0				NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39						c.(3742-3744)Cag>Tag		phosphatidylinositol transfer protein, membrane-associated 2							10.0	11.0	10.0					12																	123470864		2148	4240	6388	SO:0001587	stop_gained	57605				metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding	g.chr12:123470864G>A	AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.3760C>T	12.37:g.123470864G>A	ENSP00000437611:p.Gln1254*	False	False		Somatic	0				PITPNM2_ENST00000542749.1_Nonsense_Mutation_p.Q1254*|PITPNM2_ENST00000392428.1_Nonsense_Mutation_p.Q975*|PITPNM2_ENST00000320201.4_Nonsense_Mutation_p.Q1254*	p.Q1248*			WXS	Illumina HiSeq	Phase_I	Q9BZ72	PITM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)	25	3947	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		0					Q9P271	Nonsense_Mutation	SNP	ENST00000542749.1	37	c.3742C>T	CCDS9242.1	.	.	.	.	.	.	.	.	.	.	G	41	8.645874	0.98899	.	.	ENSG00000090975	ENST00000280562;ENST00000320201;ENST00000392428;ENST00000542749	.	.	.	4.8	4.8	0.61643	.	0.071076	0.56097	D	0.000021	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	-33.4146	18.4084	0.90542	0.0:0.0:1.0:0.0	.	.	.	.	X	1248;1254;975;1254	.	ENSP00000280562:Q1248X	Q	-	1	0	PITPNM2	122036817	1.000000	0.71417	1.000000	0.80357	0.707000	0.40811	7.611000	0.82962	2.664000	0.90586	0.561000	0.74099	CAG		0.726	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1	0	NM_020845		12:123470864
FBN3	84467	broad.mit.edu	37	19	8190815	8190815	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:8190815C>T	ENST00000600128.1	-	22	3106	c.2692G>A	c.(2692-2694)Gag>Aag	p.E898K	FBN3_ENST00000270509.2_Missense_Mutation_p.E898K|FBN3_ENST00000601739.1_Missense_Mutation_p.E898K			Q75N90	FBN3_HUMAN	fibrillin 3	898	EGF-like 11; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						ATCAGGCCCTCTGGACACTCA	0.622																																						ENST00000600128.1		NA																	0				NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(2692-2694)Gag>Aag		fibrillin 3							60.0	51.0	54.0					19																	8190815		2203	4300	6503	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8190815C>T		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.2692G>A	19.37:g.8190815C>T	ENSP00000470498:p.Glu898Lys	False	False		Somatic	0				FBN3_ENST00000270509.2_Missense_Mutation_p.E898K|FBN3_ENST00000601739.1_Missense_Mutation_p.E898K	p.E898K			WXS	Illumina HiSeq	Phase_I	Q75N90	FBN3_HUMAN			22	3106	-			898			EGF-like 11; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.2692G>A	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	c	4.459	0.085024	0.08583	.	.	ENSG00000142449	ENST00000270509	D	0.92348	-3.02	4.0	-8.0	0.01126	EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.296672	0.32884	N	0.005521	T	0.77315	0.4112	N	0.17564	0.495	0.09310	N	1	B	0.22146	0.065	B	0.18561	0.022	T	0.62515	-0.6838	10	0.33940	T	0.23	.	4.9192	0.13862	0.084:0.3077:0.4089:0.1993	.	898	Q75N90	FBN3_HUMAN	K	898	ENSP00000270509:E898K	ENSP00000270509:E898K	E	-	1	0	FBN3	8096815	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.712000	0.05013	-2.657000	0.00421	-1.887000	0.00540	GAG		0.622	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	0	NM_032447		19:8190815
RBP3	5949	broad.mit.edu	37	10	48387865	48387865	+	Nonsense_Mutation	SNP	C	C	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr10:48387865C>A	ENST00000224600.4	-	1	3126	c.3013G>T	c.(3013-3015)Gag>Tag	p.E1005*	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	1005	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	TTGGCATTCTCAGGGATATGG	0.597																																						ENST00000224600.4		NA																	0				central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(3013-3015)Gag>Tag		retinol binding protein 3, interstitial	Vitamin A(DB00162)						101.0	107.0	105.0					10																	48387865		2203	4300	6503	SO:0001587	stop_gained	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48387865C>A	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"""retinol-binding protein 3, interstitial"""				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.3013G>T	10.37:g.48387865C>A	ENSP00000224600:p.Glu1005*	False	False		Somatic	0					p.E1005*	NM_002900.2	NP_002891.1	WXS	Illumina HiSeq	Phase_I	P10745	RET3_HUMAN			1	3126	-			1005			4 X approximate tandem repeats.		Q0QD34|Q5VSR0|Q8IXN0	Nonsense_Mutation	SNP	ENST00000224600.4	37	c.3013G>T	CCDS7218.1	.	.	.	.	.	.	.	.	.	.	C	41	8.782886	0.98952	.	.	ENSG00000107618	ENST00000224600	.	.	.	5.56	5.56	0.83823	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-20.6072	18.5233	0.90962	0.0:1.0:0.0:0.0	.	.	.	.	X	1005	.	ENSP00000224600:E1005X	E	-	1	0	RBP3	48007871	1.000000	0.71417	0.941000	0.38009	0.901000	0.52897	4.906000	0.63293	2.640000	0.89533	0.655000	0.94253	GAG		0.597	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	0	NM_002900		10:48387865
TUBB8P7	197331	broad.mit.edu	37	16	90162224	90162224	+	RNA	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr16:90162224G>A	ENST00000564451.1	+	0	1577				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7																		TTCAGGGGTCGCATGCCCATG	0.527																																						ENST00000567960.1		NA																	0					NA																																														0							g.chr16:90162224G>A			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162224G>A		False	False		Somatic	0				TUBB8P7_ENST00000564451.1_RNA				WXS	Illumina HiSeq	Phase_I					0	960	+			NA						RNA	SNP	ENST00000564451.1	37																																																																																						0.527	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	0	NG_002334		16:90162224
NOTCH3	4854	broad.mit.edu	37	19	15271827	15271827	+	Silent	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:15271827C>T	ENST00000263388.2	-	33	6687	c.6612G>A	c.(6610-6612)ccG>ccA	p.P2204P		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	2204					forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GCCGCTCCTGCGGGGAGACGG	0.741																																						ENST00000263388.2		NA																	0				breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93						c.(6610-6612)ccG>ccA		notch 3							3.0	5.0	4.0					19																	15271827		1881	3842	5723	SO:0001819	synonymous_variant	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15271827C>T	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.6612G>A	19.37:g.15271827C>T		True	False		Somatic	0					p.P2204P	NM_000435.2	NP_000426.2	WXS	Illumina HiSeq	Phase_I	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		33	6687	-			2204					Q9UEB3|Q9UPL3|Q9Y6L8	Silent	SNP	ENST00000263388.2	37	c.6612G>A	CCDS12326.1																																																																																				0.741	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	0	NM_000435		19:15271827
KIF20A	10112	broad.mit.edu	37	5	137518869	137518869	+	Nonsense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:137518869C>T	ENST00000394894.3	+	8	1070	c.844C>T	c.(844-846)Cga>Tga	p.R282*	KIF20A_ENST00000508792.1_Nonsense_Mutation_p.R264*	NM_005733.2	NP_005724.1	O95235	KI20A_HUMAN	kinesin family member 20A	282	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule bundle formation (GO:0001578)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)|transporter activity (GO:0005215)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1)	27			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AACAAGTCATCGATGGGCACA	0.498																																						ENST00000394894.3		NA																	0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1)	27						c.(844-846)Cga>Tga		kinesin family member 20A							59.0	57.0	57.0					5																	137518869		2203	4300	6503	SO:0001587	stop_gained	10112				cytokinesis|M phase of mitotic cell cycle|microtubule-based movement|protein transport|vesicle-mediated transport	Golgi apparatus|microtubule|nucleoplasm	ATP binding|microtubule motor activity|protein binding|transporter activity	g.chr5:137518869C>T	AF070672	CCDS4199.1	5q31	2008-02-05	2003-01-13	2003-01-17	ENSG00000112984	ENSG00000112984		"""Kinesins"""	9787	protein-coding gene	gene with protein product		605664	"""RAB6 interacting, kinesin-like (rabkinesin6)"""	RAB6KIFL		11416179, 10806357	Standard	NM_005733		Approved		uc003lcj.3	O95235	OTTHUMG00000129195	ENST00000394894.3:c.844C>T	5.37:g.137518869C>T	ENSP00000378356:p.Arg282*	False	False		Somatic	0				KIF20A_ENST00000508792.1_Nonsense_Mutation_p.R264*	p.R282*	NM_005733.2	NP_005724.1	WXS	Illumina HiSeq	Phase_I	O95235	KI20A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		8	1070	+			282			Kinesin-motor.		B4DL79|D3DQB6	Nonsense_Mutation	SNP	ENST00000394894.3	37	c.844C>T	CCDS4199.1	.	.	.	.	.	.	.	.	.	.	C	17.11	3.306221	0.60305	.	.	ENSG00000112984	ENST00000394894;ENST00000508792	.	.	.	4.88	2.9	0.33743	.	0.709223	0.11400	N	0.567885	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	0.0424	8.3654	0.32382	0.137:0.7029:0.0:0.1601	.	.	.	.	X	282;264	.	ENSP00000378356:R282X	R	+	1	2	KIF20A	137546768	0.005000	0.15991	0.518000	0.27811	0.964000	0.63967	1.560000	0.36331	1.264000	0.44198	0.655000	0.94253	CGA		0.498	KIF20A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251272.1	0	NM_005733		5:137518869
SPPL2B	56928	broad.mit.edu	37	19	2341000	2341000	+	RNA	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:2341000G>A	ENST00000452401.2	+	0	1021							Q8TCT7	SPP2B_HUMAN	signal peptide peptidase like 2B						membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|regulation of immune response (GO:0050776)	endosome membrane (GO:0010008)|Golgi-associated vesicle membrane (GO:0030660)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aspartic endopeptidase activity, intramembrane cleaving (GO:0042500)|protein homodimerization activity (GO:0042803)						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCGTCTTCCGCAACGAGGAC	0.701																																						ENST00000452401.2		NA																	0					NA								signal peptide peptidase like 2B							47.0	56.0	53.0					19																	2341000		2197	4296	6493			56928					Golgi membrane|integral to membrane	aspartic-type endopeptidase activity	g.chr19:2341000G>A		CCDS74252.1, CCDS74253.1	19p13.3	2012-02-21			ENSG00000005206	ENSG00000005206			30627	protein-coding gene	gene with protein product	"""intramembrane protease 4"""	608239				10819331	Standard	NM_001077238		Approved	IMP4, PSL1, KIAA1532	uc002lvs.3	Q8TCT7			19.37:g.2341000G>A		False	False		Somatic	0								WXS	Illumina HiSeq	Phase_I	Q8TCT7	PSL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	0	1021	+		Hepatocellular(1079;0.137)	NA					D6W609|O60365|Q567S3|Q8IUH9|Q9BUY6|Q9H3M4|Q9NPN2|Q9P1Z6	RNA	SNP	ENST00000452401.2	37			.	.	.	.	.	.	.	.	.	.	G	18.35	3.604692	0.66445	.	.	ENSG00000005206	ENST00000452401;ENST00000382189	.	.	.	4.47	4.47	0.54385	.	0.000000	0.85682	D	0.000000	T	0.79845	0.4516	.	.	.	0.51767	D	0.999931	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84965	0.0879	7	0.87932	D	0	-33.5577	15.6943	0.77481	0.0:0.0:1.0:0.0	.	315;314	Q8TCT7;C9JFE6	PSL1_HUMAN;.	H	314;303	.	ENSP00000371624:R303H	R	+	2	0	AC004410.1	2292000	1.000000	0.71417	0.983000	0.44433	0.048000	0.14542	9.152000	0.94680	2.041000	0.60428	0.561000	0.74099	CGC		0.701	SPPL2B-202	KNOWN	basic	processed_transcript	processed_transcript		0	NM_020172		19:2341000
NOSTRIN	115677	broad.mit.edu	37	2	169716142	169716142	+	Missense_Mutation	SNP	G	G	C			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr2:169716142G>C	ENST00000317647.7	+	13	1403	c.1174G>C	c.(1174-1176)Gaa>Caa	p.E392Q	NOSTRIN_ENST00000397206.2_Missense_Mutation_p.E314Q|NOSTRIN_ENST00000444448.2_Missense_Mutation_p.E449Q|NOSTRIN_ENST00000445023.2_Missense_Mutation_p.E314Q|NOSTRIN_ENST00000397209.2_Missense_Mutation_p.E364Q|NOSTRIN_ENST00000458381.2_Missense_Mutation_p.E449Q|NOSTRIN_ENST00000421711.2_Missense_Mutation_p.E364Q	NM_001039724.3	NP_001034813.2	Q8IVI9	NOSTN_HUMAN	nitric oxide synthase trafficking	392					endocytosis (GO:0006897)|negative regulation of transcription, DNA-templated (GO:0045892)|nitric oxide metabolic process (GO:0046209)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoskeleton (GO:0005856)|endocytic vesicle membrane (GO:0030666)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)			kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						CAGGTGGAGGGAAAAGGTAAC	0.438																																						ENST00000444448.2		NA																	0				kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						c.(1345-1347)Gaa>Caa		nitric oxide synthase trafficking							125.0	119.0	121.0					2																	169716142		1914	4130	6044	SO:0001583	missense	115677				endocytosis|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	protein binding	g.chr2:169716142G>C	AJ532842	CCDS42771.1, CCDS42772.1, CCDS54415.1, CCDS54416.1	2q31.1	2013-08-05	2013-08-05		ENSG00000163072	ENSG00000163072			20203	protein-coding gene	gene with protein product		607496	"""nitric oxide synthase trafficker"""			12446846	Standard	NM_001171631		Approved	MGC20702	uc002ueg.3	Q8IVI9	OTTHUMG00000153990	ENST00000317647.7:c.1174G>C	2.37:g.169716142G>C	ENSP00000318921:p.Glu392Gln	True	False		Somatic	0				NOSTRIN_ENST00000397206.2_Missense_Mutation_p.E314Q|NOSTRIN_ENST00000445023.2_Missense_Mutation_p.E314Q|NOSTRIN_ENST00000421711.2_Missense_Mutation_p.E364Q|NOSTRIN_ENST00000397209.2_Missense_Mutation_p.E364Q|NOSTRIN_ENST00000458381.2_Missense_Mutation_p.E449Q|NOSTRIN_ENST00000317647.7_Missense_Mutation_p.E392Q	p.E449Q			WXS	Illumina HiSeq	Phase_I	Q8IVI9	NOSTN_HUMAN			16	1821	+			392			SH3.		A8K2I9|B3KSF5|E7EPT9|Q27HG3|Q53S62|Q96CJ9	Missense_Mutation	SNP	ENST00000317647.7	37	c.1345G>C	CCDS42771.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.127768	0.77549	.	.	ENSG00000163072	ENST00000458381;ENST00000444448;ENST00000317647;ENST00000445023;ENST00000397206;ENST00000397209;ENST00000421711	T;T;T;T;T;T;T	0.38560	1.3;1.3;1.13;1.32;1.32;1.33;1.33	5.3	5.3	0.74995	.	0.162747	0.53938	D	0.000056	T	0.59649	0.2209	M	0.75447	2.3	0.80722	D	1	D;D;D;D;D;D	0.64830	0.98;0.991;0.994;0.994;0.969;0.987	P;P;P;P;P;P	0.58331	0.663;0.837;0.798;0.783;0.599;0.776	T	0.56275	-0.8006	10	0.28530	T	0.3	-0.2101	16.7834	0.85568	0.0:0.0:1.0:0.0	.	364;314;449;286;392;449	Q8IVI9-2;Q8IVI9-3;B3KSF5;D3DPB9;Q8IVI9;E7EPT9	.;.;.;.;NOSTN_HUMAN;.	Q	449;449;392;314;314;364;364	ENSP00000402140:E449Q;ENSP00000394051:E449Q;ENSP00000318921:E392Q;ENSP00000404413:E314Q;ENSP00000380390:E314Q;ENSP00000380392:E364Q;ENSP00000401316:E364Q	ENSP00000318921:E392Q	E	+	1	0	NOSTRIN	169424388	1.000000	0.71417	1.000000	0.80357	0.775000	0.43874	6.770000	0.74990	2.630000	0.89119	0.655000	0.94253	GAA		0.438	NOSTRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333356.4	0	NM_052946		2:169716142
PRKCQ	5588	broad.mit.edu	37	10	6470257	6470257	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr10:6470257G>A	ENST00000263125.5	-	18	2132	c.2033C>T	c.(2032-2034)gCc>gTc	p.A678V	PRKCQ_ENST00000397176.2_Missense_Mutation_p.A615V|PRKCQ_ENST00000539722.1_Missense_Mutation_p.A553V	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	678	AGC-kinase C-terminal.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of T cell apoptotic process (GO:0070233)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of T-helper 2 cell activation (GO:2000570)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of transcription, DNA-templated (GO:0006355)|rhodopsin mediated signaling pathway (GO:0016056)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45					Tamoxifen(DB00675)	TGCTCTGTCGGCAAATGACAG	0.458																																					Ovarian(50;572 1126 10530 25349 30594)	ENST00000263125.5		NA																	0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						c.(2032-2034)gCc>gTc		protein kinase C, theta							204.0	213.0	210.0					10																	6470257		2203	4300	6503	SO:0001583	missense	5588				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr10:6470257G>A	L07032	CCDS7079.1, CCDS55701.1, CCDS60482.1	10p15	2009-07-10			ENSG00000065675	ENSG00000065675	2.7.11.1		9410	protein-coding gene	gene with protein product		600448				8444877	Standard	NM_001282645		Approved		uc001ijj.2	Q04759	OTTHUMG00000017623	ENST00000263125.5:c.2033C>T	10.37:g.6470257G>A	ENSP00000263125:p.Ala678Val	False	False		Somatic	0				PRKCQ_ENST00000397176.2_Missense_Mutation_p.A615V|PRKCQ_ENST00000539722.1_Missense_Mutation_p.A553V	p.A678V	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	WXS	Illumina HiSeq	Phase_I	Q04759	KPCT_HUMAN			18	2132	-			678			AGC-kinase C-terminal.		B4DF52|Q14DH6|Q3MJF1|Q64FY5|Q9H508|Q9H549	Missense_Mutation	SNP	ENST00000263125.5	37	c.2033C>T	CCDS7079.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.563|7.563	0.665173|0.665173	0.14710|0.14710	.|.	.|.	ENSG00000065675|ENSG00000065675	ENST00000263125;ENST00000397176;ENST00000539722|ENST00000397178	T;T;T|.	0.57107|.	0.42;0.42;0.42|.	5.56|5.56	5.56|5.56	0.83823|0.83823	Protein kinase, C-terminal (1);AGC-kinase, C-terminal (2);Protein kinase-like domain (1);|.	0.239518|.	0.42294|.	D|.	0.000736|.	T|T	0.19127|0.19127	0.0459|0.0459	N|N	0.02665|0.02665	-0.54|-0.54	0.20074|0.20074	N|N	0.999935|0.999935	B;B;P;B|.	0.40553|.	0.01;0.041;0.721;0.032|.	B;B;P;B|.	0.45310|.	0.006;0.009;0.476;0.028|.	T|T	0.16512|0.16512	-1.0400|-1.0400	10|5	0.14252|.	T|.	0.57|.	.|.	15.5307|15.5307	0.75960|0.75960	0.0:0.1384:0.8616:0.0|0.0:0.1384:0.8616:0.0	.|.	553;450;615;678|.	B4DF52;Q5JUN8;Q04759-2;Q04759|.	.;.;.;KPCT_HUMAN|.	V|S	678;615;553|451	ENSP00000263125:A678V;ENSP00000380361:A615V;ENSP00000441752:A553V|.	ENSP00000263125:A678V|.	A|P	-|-	2|1	0|0	PRKCQ|PRKCQ	6510263|6510263	1.000000|1.000000	0.71417|0.71417	0.041000|0.041000	0.18516|0.18516	0.066000|0.066000	0.16364|0.16364	5.083000|5.083000	0.64456|0.64456	2.614000|2.614000	0.88457|0.88457	0.561000|0.561000	0.74099|0.74099	GCC|CCG		0.458	PRKCQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046665.1	0	NM_006257		10:6470257
F12	2161	broad.mit.edu	37	5	176831274	176831274	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:176831274G>A	ENST00000253496.3	-	9	989	c.941C>T	c.(940-942)cCa>cTa	p.P314L	F12_ENST00000514943.1_5'Flank	NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	coagulation factor XII (Hageman factor)	314	Pro-rich.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|plasma kallikrein-kinin cascade (GO:0002353)|positive regulation of blood coagulation (GO:0030194)|positive regulation of fibrinolysis (GO:0051919)|positive regulation of plasminogen activation (GO:0010756)|protein autoprocessing (GO:0016540)|protein processing (GO:0016485)|response to misfolded protein (GO:0051788)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	misfolded protein binding (GO:0051787)|serine-type aminopeptidase activity (GO:0070009)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Ethanolamine Oleate(DB06689)	GGGCATGAGTGGGACATGAAG	0.711									Hereditary Angioedema		OREG0017088	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000253496.3		NA																	0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12						c.(940-942)cCa>cTa		coagulation factor XII (Hageman factor)							15.0	20.0	18.0					5																	176831274		2194	4290	6484	SO:0001583	missense	2161	Hereditary Angioedema	Familial Cancer Database	HAE, type I-III, Hereditary Angioneurotic Edema, HANE,	Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation	extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr5:176831274G>A	M31315	CCDS34302.1	5q35.3	2014-09-17			ENSG00000131187	ENSG00000131187	3.4.21.38		3530	protein-coding gene	gene with protein product		610619					Standard	NM_000505		Approved		uc003mgo.4	P00748	OTTHUMG00000163403	ENST00000253496.3:c.941C>T	5.37:g.176831274G>A	ENSP00000253496:p.Pro314Leu	True	False		Somatic	0	OREG0017088	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1934		p.P314L	NM_000505.3	NP_000496.2	WXS	Illumina HiSeq	Phase_I	P00748	FA12_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		9	989	-	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	314			Pro-rich.		P78339	Missense_Mutation	SNP	ENST00000253496.3	37	c.941C>T	CCDS34302.1	.	.	.	.	.	.	.	.	.	.	G	8.380	0.837406	0.16891	.	.	ENSG00000131187	ENST00000253496	D	0.89050	-2.46	4.4	-4.43	0.03568	.	3.436950	0.00947	N	0.002906	T	0.72574	0.3477	N	0.05124	-0.11	0.09310	N	0.999993	B	0.02656	0.0	B	0.01281	0.0	T	0.67360	-0.5690	10	0.10377	T	0.69	.	5.3148	0.15850	0.486:0.0:0.374:0.14	.	314	P00748	FA12_HUMAN	L	314	ENSP00000253496:P314L	ENSP00000253496:P314L	P	-	2	0	F12	176763880	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.201000	0.09464	-0.948000	0.03668	-1.191000	0.01696	CCA		0.711	F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373217.1	0			5:176831274
DNAH10	196385	broad.mit.edu	37	12	124332557	124332557	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:124332557G>A	ENST00000409039.3	+	32	5535	c.5510G>A	c.(5509-5511)gGc>gAc	p.G1837D		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1837	AAA 1. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GCAGGAACCGGCAAAACCGAG	0.552																																						ENST00000409039.3		NA																	0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(5509-5511)gGc>gAc		dynein, axonemal, heavy chain 10							95.0	102.0	100.0					12																	124332557		1975	4178	6153	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124332557G>A	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.5510G>A	12.37:g.124332557G>A	ENSP00000386770:p.Gly1837Asp	False	False		Somatic	0					p.G1837D	NM_207437.3	NP_997320.2	WXS	Illumina HiSeq	Phase_I	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	32	5535	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1837			AAA 1 (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.5510G>A	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	21.8	4.201809	0.79015	.	.	ENSG00000197653	ENST00000409039	D	0.92099	-2.97	5.53	5.53	0.82687	ATPase, AAA+ type, core (1);	0.000000	0.85682	U	0.000000	D	0.98043	0.9355	H	0.98769	4.325	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99441	1.0938	10	0.87932	D	0	.	19.4428	0.94827	0.0:0.0:1.0:0.0	.	1837	Q8IVF4	DYH10_HUMAN	D	1837	ENSP00000386770:G1837D	ENSP00000386770:G1837D	G	+	2	0	DNAH10	122898510	1.000000	0.71417	0.998000	0.56505	0.218000	0.24690	9.853000	0.99521	2.598000	0.87819	0.555000	0.69702	GGC		0.552	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3	0			12:124332557
ERCC6	2074	broad.mit.edu	37	10	50678629	50678629	+	Missense_Mutation	SNP	T	T	C			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr10:50678629T>C	ENST00000355832.5	-	18	3455	c.3377A>G	c.(3376-3378)aAt>aGt	p.N1126S	ERCC6_ENST00000542458.1_Missense_Mutation_p.N496S|RP11-123B3.2_ENST00000423283.1_RNA|ERCC6_ENST00000465653.1_5'Flank	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	1126					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						ACATTCCCCATTTCCACTAAT	0.393								Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000355832.5		NA																	0				breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(3376-3378)aAt>aGt	Direct reversal of damage;Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 6							151.0	142.0	145.0					10																	50678629		2203	4300	6503	SO:0001583	missense	2074				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding	g.chr10:50678629T>C	L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"""Cockayne syndrome B protein"""	609413	"""excision repair cross-complementing rodent repair deficiency, complementation group 6"""	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.3377A>G	10.37:g.50678629T>C	ENSP00000348089:p.Asn1126Ser	True	False		Somatic	0				ERCC6_ENST00000542458.1_Missense_Mutation_p.N496S|RP11-123B3.2_ENST00000423283.1_RNA	p.N1126S	NM_000124.2	NP_000115.1	WXS	Illumina HiSeq	Phase_I	Q03468	ERCC6_HUMAN			18	3455	-			1126					D3DX94|Q5W0L9	Missense_Mutation	SNP	ENST00000355832.5	37	c.3377A>G	CCDS7229.1	.	.	.	.	.	.	.	.	.	.	T	10.92	1.486713	0.26686	.	.	ENSG00000225830	ENST00000355832;ENST00000374129;ENST00000542458	D;T	0.82344	-1.6;-1.33	5.95	2.33	0.28932	.	.	.	.	.	T	0.71290	0.3322	L	0.38175	1.15	0.09310	N	1	B;B	0.11235	0.004;0.0	B;B	0.06405	0.002;0.001	T	0.51474	-0.8701	9	0.11794	T	0.64	-1.9129	8.1179	0.30955	0.0:0.2339:0.0:0.7661	.	1126;503	Q03468;Q59FF6	ERCC6_HUMAN;.	S	1126;503;496	ENSP00000348089:N1126S;ENSP00000445134:N496S	ENSP00000348089:N1126S	N	-	2	0	ERCC6	50348635	0.007000	0.16637	0.006000	0.13384	0.404000	0.30871	1.437000	0.34991	0.152000	0.19188	0.533000	0.62120	AAT		0.393	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1	0	NM_000124		10:50678629
TTN	7273	broad.mit.edu	37	2	179597812	179597812	+	Missense_Mutation	SNP	C	C	T	rs200941841		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr2:179597812C>T	ENST00000591111.1	-	53	15364	c.15140G>A	c.(15139-15141)cGc>cAc	p.R5047H	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R5364H|TTN_ENST00000342992.6_Missense_Mutation_p.R4120H|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000582847.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12420	Ig-like 31.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCCACGTTGCGCAAGGGTTT	0.453																																						ENST00000589042.1		NA																	0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(16090-16092)cGc>cAc		titin		C	HIS/ARG,,,	1,3881		0,1,1940	60.0	57.0	58.0		12359,,,	5.3	1.0	2		58	0,8284		0,0,4142	yes	missense,intron,intron,intron	TTN	NM_133378.4,NM_003319.4,NM_133432.3,NM_133437.3	29,,,	0,1,6082	TT,TC,CC		0.0,0.0258,0.0082	probably-damaging,,,	4120/33424,,,	179597812	1,12165	1941	4142	6083	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179597812C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.15140G>A	2.37:g.179597812C>T	ENSP00000465570:p.Arg5047His	False	False		Somatic	0				TTN_ENST00000342992.6_Missense_Mutation_p.R4120H|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.R5047H|TTN_ENST00000460472.2_Intron	p.R5364H	NM_001267550.1	NP_001254479.1	WXS	Illumina HiSeq	Phase_I	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		55	16315	-			5047			Ig-like 34.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.16091G>A		.	.	.	.	.	.	.	.	.	.	C	10.90	1.480091	0.26598	2.58E-4	0.0	ENSG00000155657	ENST00000342992	T	0.68331	-0.32	6.17	5.29	0.74685	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.71576	0.3356	M	0.75884	2.315	0.80722	D	1	D	0.57571	0.98	P	0.48921	0.595	T	0.75557	-0.3276	9	0.87932	D	0	.	12.1123	0.53846	0.0:0.8742:0.0:0.1258	.	5047	Q8WZ42	TITIN_HUMAN	H	4120	ENSP00000343764:R4120H	ENSP00000343764:R4120H	R	-	2	0	TTN	179306057	1.000000	0.71417	1.000000	0.80357	0.638000	0.38207	3.216000	0.51176	2.941000	0.99782	0.655000	0.94253	CGC		0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	0	NM_133378		2:179597812
PCDHB6	56130	broad.mit.edu	37	5	140531689	140531689	+	Silent	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:140531689G>A	ENST00000231136.1	+	1	1851	c.1851G>A	c.(1849-1851)gcG>gcA	p.A617A	PCDHB6_ENST00000543635.1_Silent_p.A481A	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	617	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCGTGTGGGCGCACAATGGCG	0.672																																						ENST00000231136.1		NA																	0				cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84						c.(1849-1851)gcG>gcA									23.0	26.0	25.0					5																	140531689		2038	4048	6086	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140531689G>A	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.1851G>A	5.37:g.140531689G>A		False	False		Somatic	0				PCDHB6_ENST00000543635.1_Silent_p.A481A	p.A617A	NM_018939.2	NP_061762.1	WXS	Illumina HiSeq	Phase_I	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1851	+			617			Cadherin 6.		B2R8R9	Silent	SNP	ENST00000231136.1	37	c.1851G>A	CCDS4248.1																																																																																				0.672	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	0	NM_018939		5:140531689
MORN3	283385	broad.mit.edu	37	12	122091031	122091031	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:122091031C>T	ENST00000355329.3	-	4	768	c.598G>A	c.(598-600)Gac>Aac	p.D200N		NM_173855.4	NP_776254.3	Q6PF18	MORN3_HUMAN	MORN repeat containing 3	200						nucleus (GO:0005634)		p.D200Y(1)		breast(2)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)		CGGCCAAAGTCGATCATCGTC	0.607																																						ENST00000355329.3		NA																	1	Substitution - Missense(1)	p.D200Y(1)	stomach(1)	breast(2)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9						c.(598-600)Gac>Aac		MORN repeat containing 3							51.0	42.0	45.0					12																	122091031		2203	4300	6503	SO:0001583	missense	283385							g.chr12:122091031C>T	BC057760	CCDS31917.1	12q24.31	2006-01-17			ENSG00000139714	ENSG00000139714			29807	protein-coding gene	gene with protein product							Standard	NM_173855		Approved		uc001uax.3	Q6PF18	OTTHUMG00000169075	ENST00000355329.3:c.598G>A	12.37:g.122091031C>T	ENSP00000347486:p.Asp200Asn	False	False		Somatic	0					p.D200N	NM_173855.4	NP_776254.3	WXS	Illumina HiSeq	Phase_I	Q6PF18	MORN3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)	4	768	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		200					Q86YQ9	Missense_Mutation	SNP	ENST00000355329.3	37	c.598G>A	CCDS31917.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.929149	0.92389	.	.	ENSG00000139714	ENST00000355329	T	0.74315	-0.83	4.86	4.86	0.63082	.	0.053142	0.64402	D	0.000001	D	0.83059	0.5172	L	0.52573	1.65	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.83861	0.0268	10	0.52906	T	0.07	.	17.952	0.89056	0.0:1.0:0.0:0.0	.	200	Q6PF18	MORN3_HUMAN	N	200	ENSP00000347486:D200N	ENSP00000347486:D200N	D	-	1	0	MORN3	120575414	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	5.215000	0.65241	2.422000	0.82143	0.561000	0.74099	GAC		0.607	MORN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402154.1	0	NM_173855		12:122091031
PCDHA13	56136	broad.mit.edu	37	5	140263655	140263655	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:140263655C>T	ENST00000289272.2	+	1	1802	c.1802C>T	c.(1801-1803)tCg>tTg	p.S601L	PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.S601L|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA11_ENST00000398640.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	601	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)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACGCCGATTCGGGCTACAAT	0.697																																					Melanoma(147;1739 1852 5500 27947 37288)	ENST00000289272.2		NA																	0				NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95						c.(1801-1803)tCg>tTg									68.0	73.0	71.0					5																	140263655		2202	4298	6500	SO:0001583	missense	0							g.chr5:140263655C>T	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.1802C>T	5.37:g.140263655C>T	ENSP00000289272:p.Ser601Leu	True	False		Somatic	0				PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.S601L|PCDHA12_ENST00000398631.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron	p.S601L	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	WXS	Illumina HiSeq	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1802	+			NA					O75277	Missense_Mutation	SNP	ENST00000289272.2	37	c.1802C>T	CCDS4240.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.230086	0.58777	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.49432	0.78;0.78	4.21	4.21	0.49690	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.71643	0.3364	M	0.84773	2.715	0.38022	D	0.934879	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.78314	0.966;0.991;0.99	T	0.80863	-0.1192	9	0.87932	D	0	.	16.3687	0.83346	0.0:1.0:0.0:0.0	.	601;601;601	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	L	601	ENSP00000386821:S601L;ENSP00000289272:S601L	ENSP00000289272:S601L	S	+	2	0	PCDHA13	140243839	0.000000	0.05858	0.966000	0.40874	0.123000	0.20343	0.579000	0.23788	2.144000	0.66660	0.655000	0.94253	TCG		0.697	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	0	NM_018904		5:140263655
OR1L4	254973	broad.mit.edu	37	9	125486388	125486388	+	Silent	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr9:125486388G>A	ENST00000259466.1	+	1	120	c.120G>A	c.(118-120)gcG>gcA	p.A40A		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	40						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A40A(1)		breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						TACTCACTGCGGTGGGGAATG	0.517																																						ENST00000259466.1		NA																	1	Substitution - coding silent(1)	p.A40A(1)	lung(1)	breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						c.(118-120)gcG>gcA		olfactory receptor, family 1, subfamily L, member 4							200.0	182.0	188.0					9																	125486388		2203	4300	6503	SO:0001819	synonymous_variant	254973				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125486388G>A		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.120G>A	9.37:g.125486388G>A		False	False		Somatic	0					p.A40A	NM_001005235.1	NP_001005235.1	WXS	Illumina HiSeq	Phase_I	Q8NGR5	OR1L4_HUMAN			1	120	+			40					Q6IFN0|Q96R81	Silent	SNP	ENST00000259466.1	37	c.120G>A	CCDS35129.1																																																																																				0.517	OR1L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053951.1	0			9:125486388
SCN3A	6328	broad.mit.edu	37	2	165997338	165997338	+	Silent	SNP	C	C	T	rs370922010		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr2:165997338C>T	ENST00000360093.3	-	13	2333	c.1842G>A	c.(1840-1842)ccG>ccA	p.P614P	SCN3A_ENST00000409101.3_Silent_p.P614P|SCN3A_ENST00000283254.7_Silent_p.P614P	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	614					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CATGTCTGTGCGGCACAAACA	0.507																																						ENST00000360093.3		NA																	0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120						c.(1840-1842)ccG>ccA		sodium channel, voltage-gated, type III, alpha subunit	Lamotrigine(DB00555)	C	,,	0,4406		0,0,2203	230.0	167.0	188.0		1842,1842,1842	-12.1	0.0	2		188	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	SCN3A	NM_001081676.1,NM_001081677.1,NM_006922.3	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	614/1952,614/1952,614/2001	165997338	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:165997338C>T	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.1842G>A	2.37:g.165997338C>T		False	False		Somatic	0				SCN3A_ENST00000283254.7_Silent_p.P614P|SCN3A_ENST00000409101.3_Silent_p.P614P	p.P614P	NM_001081677.1	NP_001075146.1	WXS	Illumina HiSeq	Phase_I	Q9NY46	SCN3A_HUMAN			13	2333	-			614					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Silent	SNP	ENST00000360093.3	37	c.1842G>A																																																																																					0.507	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		0	NM_006922		2:165997338
CYP4F12	66002	broad.mit.edu	37	19	15806854	15806854	+	Silent	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:15806854C>T	ENST00000550308.1	+	10	1604	c.1224C>T	c.(1222-1224)ctC>ctT	p.L408L	CYP4F12_ENST00000324632.10_Silent_p.L408L	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	408					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)			NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	ACATTGTTCTCCCAGATGGCC	0.612																																						ENST00000550308.1		NA																	0				NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						c.(1222-1224)ctC>ctT		cytochrome P450, family 4, subfamily F, polypeptide 12							85.0	85.0	85.0					19																	15806854		2203	4300	6503	SO:0001819	synonymous_variant	66002							g.chr19:15806854C>T	AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"""Cytochrome P450s"""	18857	protein-coding gene	gene with protein product		611485	"""cytochrome P450, subfamily IVF, polypeptide 12"""			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.1224C>T	19.37:g.15806854C>T		True	False		Somatic	0				CYP4F12_ENST00000324632.10_Silent_p.L408L	p.L408L	NM_023944.3	NP_076433	WXS	Illumina HiSeq	Phase_I					10	1604	+	Acute lymphoblastic leukemia(2;0.0367)		NA					E7ET51|O60389|Q5JPJ7|Q9HCS1	Silent	SNP	ENST00000550308.1	37	c.1224C>T	CCDS42517.1																																																																																				0.612	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378938.9	0			19:15806854
HGFAC	3083	broad.mit.edu	37	4	3445871	3445871	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr4:3445871G>A	ENST00000382774.3	+	5	696	c.581G>A	c.(580-582)gGc>gAc	p.G194D	HGFAC_ENST00000511533.1_Missense_Mutation_p.G194D	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	194	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|rough endoplasmic reticulum (GO:0005791)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GCCTTCACCGGCAAGGACTGC	0.687																																						ENST00000382774.3		NA																	0				central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						c.(580-582)gGc>gAc		HGF activator							13.0	15.0	15.0					4																	3445871		2191	4294	6485	SO:0001583	missense	3083				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	g.chr4:3445871G>A	D14012	CCDS3369.1, CCDS75098.1	4p16	2008-02-07			ENSG00000109758	ENSG00000109758	3.4.21.-		4894	protein-coding gene	gene with protein product		604552				7683665, 8226803	Standard	XM_005247966		Approved	HGFAP, HGFA	uc003ghc.3	Q04756	OTTHUMG00000090281	ENST00000382774.3:c.581G>A	4.37:g.3445871G>A	ENSP00000372224:p.Gly194Asp	False	False		Somatic	0				HGFAC_ENST00000511533.1_Missense_Mutation_p.G194D	p.G194D	NM_001528.2	NP_001519.1	WXS	Illumina HiSeq	Phase_I	Q04756	HGFA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	5	696	+			194			EGF-like 1.		Q14726|Q2M1W7|Q53X47	Missense_Mutation	SNP	ENST00000382774.3	37	c.581G>A	CCDS3369.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.169872	0.38315	.	.	ENSG00000109758	ENST00000382774;ENST00000511533	D;D	0.99105	-5.43;-5.43	3.94	3.94	0.45596	EGF (1);Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99315	0.9760	M	0.90650	3.135	0.45239	D	0.998246	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98698	1.0699	10	0.87932	D	0	.	13.5073	0.61491	0.0:0.0:1.0:0.0	.	194;194	D6RAR4;Q04756	.;HGFA_HUMAN	D	194	ENSP00000372224:G194D;ENSP00000421801:G194D	ENSP00000372224:G194D	G	+	2	0	HGFAC	3415669	0.004000	0.15560	0.189000	0.23252	0.168000	0.22595	0.771000	0.26633	2.023000	0.59567	0.313000	0.20887	GGC		0.687	HGFAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206607.3	0			4:3445871
GRIK2	2898	broad.mit.edu	37	6	102516276	102516276	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr6:102516276C>T	ENST00000421544.1	+	16	3107	c.2617C>T	c.(2617-2619)Cgt>Tgt	p.R873C	GRIK2_ENST00000369134.4_Missense_Mutation_p.R824C|GRIK2_ENST00000369138.1_3'UTR|GRIK2_ENST00000369137.3_Missense_Mutation_p.R797C|GRIK2_ENST00000413795.1_3'UTR	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	873					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|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)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	GAAGTGCCAGCGTCGGTTAAA	0.398																																						ENST00000421544.1		NA																	0				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(2617-2619)Cgt>Tgt		glutamate receptor, ionotropic, kainate 2	L-Glutamic Acid(DB00142)						117.0	109.0	112.0					6																	102516276		2203	4300	6503	SO:0001583	missense	2898				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr6:102516276C>T		CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.2617C>T	6.37:g.102516276C>T	ENSP00000397026:p.Arg873Cys	False	False		Somatic	0				GRIK2_ENST00000369138.1_3'UTR|GRIK2_ENST00000369134.4_Missense_Mutation_p.R824C|GRIK2_ENST00000413795.1_3'UTR|GRIK2_ENST00000369137.3_Missense_Mutation_p.R797C	p.R873C	NM_021956.4	NP_068775.1	WXS	Illumina HiSeq	Phase_I	Q13002	GRIK2_HUMAN		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	16	3107	+		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)	873					A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP	ENST00000421544.1	37	c.2617C>T	CCDS5048.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.795302	0.90453	.	.	ENSG00000164418	ENST00000421544;ENST00000369137;ENST00000369134	T;T;T	0.12147	2.71;2.87;2.72	5.79	5.79	0.91817	.	0.050411	0.85682	D	0.000000	T	0.20941	0.0504	L	0.54323	1.7	0.80722	D	1	D	0.71674	0.998	P	0.55260	0.772	T	0.00276	-1.1855	10	0.59425	D	0.04	.	20.0361	0.97558	0.0:1.0:0.0:0.0	.	873	Q13002	GRIK2_HUMAN	C	873;797;824	ENSP00000397026:R873C;ENSP00000358133:R797C;ENSP00000358130:R824C	ENSP00000358130:R824C	R	+	1	0	GRIK2	102622969	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.487000	0.81328	2.745000	0.94114	0.462000	0.41574	CGT		0.398	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1	0			6:102516276
RNF180	285671	broad.mit.edu	37	5	63509712	63509712	+	Nonsense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:63509712C>T	ENST00000389100.4	+	4	631	c.559C>T	c.(559-561)Cga>Tga	p.R187*	RNF180_ENST00000296615.6_Nonsense_Mutation_p.R187*|RNF180_ENST00000381081.2_Intron	NM_001113561.1	NP_001107033.1	Q86T96	RN180_HUMAN	ring finger protein 180	187					adult behavior (GO:0030534)|norepinephrine metabolic process (GO:0042415)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein polyubiquitination (GO:0000209)|regulation of catalytic activity (GO:0050790)|serotonin metabolic process (GO:0042428)	integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	20		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234)		Lung(70;0.114)		CCTGGAGGTGCGACCAACATA	0.453																																						ENST00000389100.4		NA																	0				breast(1)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(559-561)Cga>Tga		ring finger protein 180							57.0	64.0	61.0					5																	63509712		2203	4300	6503	SO:0001587	stop_gained	285671					integral to membrane|nuclear envelope	zinc ion binding	g.chr5:63509712C>T	AK090756	CCDS34169.1, CCDS47219.1	5q12.3	2013-01-09			ENSG00000164197	ENSG00000164197		"""RING-type (C3HC4) zinc fingers"""	27752	protein-coding gene	gene with protein product							Standard	NM_178532		Approved		uc003jti.3	Q86T96	OTTHUMG00000162278	ENST00000389100.4:c.559C>T	5.37:g.63509712C>T	ENSP00000373752:p.Arg187*	False	False		Somatic	0				RNF180_ENST00000381081.2_Intron|RNF180_ENST00000296615.6_Nonsense_Mutation_p.R187*	p.R187*	NM_001113561.1	NP_001107033.1	WXS	Illumina HiSeq	Phase_I	Q86T96	RN180_HUMAN		Lung(70;0.114)	4	631	+		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234)	187					Q0JSU3|Q495A8|Q8NBD1	Nonsense_Mutation	SNP	ENST00000389100.4	37	c.559C>T	CCDS47219.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.987398	0.74589	.	.	ENSG00000164197	ENST00000296615;ENST00000389100	.	.	.	6.08	3.21	0.36854	.	0.180087	0.38778	N	0.001574	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.0471	14.6552	0.68828	0.5204:0.4796:0.0:0.0	.	.	.	.	X	187	.	ENSP00000296615:R187X	R	+	1	2	RNF180	63545468	0.452000	0.25713	0.552000	0.28243	0.998000	0.95712	0.245000	0.18142	0.381000	0.24851	0.655000	0.94253	CGA		0.453	RNF180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368394.1	0	NM_178532		5:63509712
CLK4	57396	broad.mit.edu	37	5	178045614	178045614	+	Missense_Mutation	SNP	C	C	G			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:178045614C>G	ENST00000316308.4	-	3	495	c.327G>C	c.(325-327)agG>agC	p.R109S	CLK4_ENST00000522749.1_5'UTR|RN7SKP70_ENST00000516655.1_RNA	NM_020666.2	NP_065717.1	Q9HAZ1	CLK4_HUMAN	CDC-like kinase 4	109					protein autophosphorylation (GO:0046777)|regulation of RNA splicing (GO:0043484)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2)	21	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.235)		GACTGCTTCTCCTGCTGCGGA	0.413																																						ENST00000316308.4		NA																	0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2)	21						c.(325-327)agG>agC		CDC-like kinase 4							226.0	214.0	218.0					5																	178045614		2203	4300	6503	SO:0001583	missense	57396					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr5:178045614C>G	AF294429	CCDS4437.1	5q35	2008-05-02			ENSG00000113240	ENSG00000113240		"""CDC-like kinases"""	13659	protein-coding gene	gene with protein product		607969				11170754	Standard	NM_020666		Approved		uc003mjf.1	Q9HAZ1	OTTHUMG00000130893	ENST00000316308.4:c.327G>C	5.37:g.178045614C>G	ENSP00000316948:p.Arg109Ser	False	False		Somatic	0				CLK4_ENST00000522749.1_5'UTR	p.R109S	NM_020666.2	NP_065717.1	WXS	Illumina HiSeq	Phase_I	Q9HAZ1	CLK4_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.235)	3	495	-	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	109						Missense_Mutation	SNP	ENST00000316308.4	37	c.327G>C	CCDS4437.1	.	.	.	.	.	.	.	.	.	.	C	12.13	1.845262	0.32606	.	.	ENSG00000113240	ENST00000316308;ENST00000536763	T	0.68479	-0.33	5.72	5.72	0.89469	.	0.111533	0.64402	D	0.000001	T	0.48390	0.1497	L	0.31578	0.945	0.80722	D	1	B;P;B;B;B	0.39782	0.002;0.688;0.006;0.293;0.293	B;B;B;B;B	0.31442	0.006;0.13;0.006;0.039;0.039	T	0.47548	-0.9109	10	0.15066	T	0.55	.	13.0251	0.58810	0.0:0.8381:0.1619:0.0	.	109;109;109;109;109	B7Z990;B7ZL31;Q4G0Z5;B9EG64;Q9HAZ1	.;.;.;.;CLK4_HUMAN	S	109	ENSP00000316948:R109S	ENSP00000316948:R109S	R	-	3	2	CLK4	177978220	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.230000	0.32612	2.700000	0.92200	0.563000	0.77884	AGG		0.413	CLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253479.2	0			5:178045614
SPG20	23111	broad.mit.edu	37	13	36886315	36886315	+	Missense_Mutation	SNP	A	A	G			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr13:36886315A>G	ENST00000451493.1	-	8	1917	c.1700T>C	c.(1699-1701)gTt>gCt	p.V567A	SPG20_ENST00000355182.4_Missense_Mutation_p.V567A|SPG20_ENST00000438666.2_Missense_Mutation_p.V567A|SPG20_ENST00000494062.2_Missense_Mutation_p.V567A	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	567					abscission (GO:0009838)|adipose tissue development (GO:0060612)|cell death (GO:0008219)|cell division (GO:0051301)|lipid particle organization (GO:0034389)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of collateral sprouting in absence of injury (GO:0048698)|neuromuscular process (GO:0050905)|regulation of mitochondrial membrane potential (GO:0051881)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)|midbody (GO:0030496)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		TTCTGCTGAAACATTGTTAAC	0.323																																						ENST00000451493.1		NA																	0				breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27						c.(1699-1701)gTt>gCt		spastic paraplegia 20 (Troyer syndrome)							95.0	103.0	100.0					13																	36886315		2203	4300	6503	SO:0001583	missense	23111				cell death	cytoplasm	ubiquitin protein ligase binding	g.chr13:36886315A>G	AB011182	CCDS9356.1	13q13.1	2008-07-04	2007-04-23		ENSG00000133104	ENSG00000133104			18514	protein-coding gene	gene with protein product	"""spartin"""	607111				6022528, 12134148	Standard	NM_001142294		Approved	KIAA0610, TAHCCP1	uc001uvm.3	Q8N0X7	OTTHUMG00000016730	ENST00000451493.1:c.1700T>C	13.37:g.36886315A>G	ENSP00000414147:p.Val567Ala	True	False		Somatic	0				SPG20_ENST00000355182.4_Missense_Mutation_p.V567A|SPG20_ENST00000438666.2_Missense_Mutation_p.V567A|SPG20_ENST00000494062.2_Missense_Mutation_p.V567A	p.V567A	NM_001142295.1	NP_001135767.1	WXS	Illumina HiSeq	Phase_I	Q8N0X7	SPG20_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)	8	1917	-		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	567					O60349|Q86Y67|Q9H1T2|Q9H1T3	Missense_Mutation	SNP	ENST00000451493.1	37	c.1700T>C	CCDS9356.1	.	.	.	.	.	.	.	.	.	.	A	27.8	4.862134	0.91511	.	.	ENSG00000133104	ENST00000438666;ENST00000355182;ENST00000451493;ENST00000423217	D;D;D	0.89617	-2.54;-2.54;-2.54	5.86	5.86	0.93980	Senescence/spartin-associated (1);	0.000000	0.85682	D	0.000000	D	0.93268	0.7855	M	0.61703	1.905	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.92473	0.5987	10	0.37606	T	0.19	-22.1858	16.2644	0.82568	1.0:0.0:0.0:0.0	.	567;567	A8K6Q9;Q8N0X7	.;SPG20_HUMAN	A	567	ENSP00000406061:V567A;ENSP00000347314:V567A;ENSP00000414147:V567A	ENSP00000347314:V567A	V	-	2	0	SPG20	35784315	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.703000	0.74633	2.244000	0.73946	0.528000	0.53228	GTT		0.323	SPG20-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044494.2	0			13:36886315
TENM2	57451	broad.mit.edu	37	5	167627098	167627098	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:167627098C>T	ENST00000518659.1	+	17	3431	c.3392C>T	c.(3391-3393)gCg>gTg	p.A1131V	TENM2_ENST00000520394.1_Missense_Mutation_p.A899V|TENM2_ENST00000519204.1_Missense_Mutation_p.A1010V|TENM2_ENST00000403607.2_Missense_Mutation_p.A955V|TENM2_ENST00000545108.1_Missense_Mutation_p.A1131V	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1131					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										AAGACAGATGCGTATGGCCAA	0.478																																						ENST00000519204.1		NA																	0					NA						c.(3028-3030)gCg>gTg		teneurin transmembrane protein 2							145.0	151.0	149.0					5																	167627098		1987	4164	6151	SO:0001583	missense	57451							g.chr5:167627098C>T	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.3392C>T	5.37:g.167627098C>T	ENSP00000429430:p.Ala1131Val	False	False		Somatic	0				TENM2_ENST00000518659.1_Missense_Mutation_p.A1131V|TENM2_ENST00000403607.2_Missense_Mutation_p.A955V|TENM2_ENST00000545108.1_Missense_Mutation_p.A1131V|TENM2_ENST00000520394.1_Missense_Mutation_p.A899V	p.A1010V			WXS	Illumina HiSeq	Phase_I					16	3147	+			NA					Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.3029C>T		.	.	.	.	.	.	.	.	.	.	C	12.37	1.917000	0.33815	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.88354	-1.91;-1.89;-2.01;-2.35;-2.37	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.87641	0.6228	N	0.12663	0.25	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.987	T	0.82104	-0.0622	10	0.02654	T	1	.	18.7579	0.91839	0.0:1.0:0.0:0.0	.	1131;1131;899	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	V	1131;1131;1010;899;955	ENSP00000429430:A1131V;ENSP00000438635:A1131V;ENSP00000428964:A1010V;ENSP00000427874:A899V;ENSP00000384905:A955V	ENSP00000384905:A955V	A	+	2	0	ODZ2	167559676	1.000000	0.71417	0.792000	0.32020	0.876000	0.50452	7.818000	0.86416	2.419000	0.82065	0.561000	0.74099	GCG		0.478	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	0	NM_001122679		5:167627098
RGS16	6004	broad.mit.edu	37	1	182569575	182569575	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:182569575G>A	ENST00000367558.5	-	5	609	c.461C>T	c.(460-462)gCg>gTg	p.A154V		NM_002928.3	NP_002919.3	O15492	RGS16_HUMAN	regulator of G-protein signaling 16	154	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)			NS(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)	11						CCCCTGAGCCGCATCAAAGCA	0.602																																						ENST00000367558.5		NA																	0				NS(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)	11						c.(460-462)gCg>gTg		regulator of G-protein signaling 16							153.0	120.0	131.0					1																	182569575		2203	4300	6503	SO:0001583	missense	6004				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity	g.chr1:182569575G>A	U70426	CCDS1348.1	1q25-q31	2008-02-05	2007-08-14		ENSG00000143333	ENSG00000143333		"""Regulators of G-protein signaling"""	9997	protein-coding gene	gene with protein product		602514	"""regulator of G-protein signalling 16"""			9469939	Standard	NM_002928		Approved	A28-RGS14, RGS-r	uc001gpl.4	O15492	OTTHUMG00000035212	ENST00000367558.5:c.461C>T	1.37:g.182569575G>A	ENSP00000356529:p.Ala154Val	False	False		Somatic	0					p.A154V	NM_002928.3	NP_002919.3	WXS	Illumina HiSeq	Phase_I	O15492	RGS16_HUMAN			5	609	-			154			RGS.		B2R4M4|Q5VYN9|Q99701	Missense_Mutation	SNP	ENST00000367558.5	37	c.461C>T	CCDS1348.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.927175	0.00493	.	.	ENSG00000143333	ENST00000367558	T	0.01998	4.51	5.38	-2.44	0.06502	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	1.166690	0.05992	N	0.646171	T	0.01320	0.0043	N	0.13198	0.31	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.47086	-0.9144	10	0.06891	T	0.86	.	5.0723	0.14613	0.4925:0.0:0.2363:0.2712	.	154	O15492	RGS16_HUMAN	V	154	ENSP00000356529:A154V	ENSP00000356529:A154V	A	-	2	0	RGS16	180836198	0.000000	0.05858	0.065000	0.19835	0.001000	0.01503	-0.510000	0.06328	-0.202000	0.10268	-1.223000	0.01593	GCG		0.602	RGS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085188.1	0	NM_002928		1:182569575
SLC6A10P	386757	broad.mit.edu	37	16	32893924	32893924	+	RNA	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr16:32893924G>A	ENST00000330048.5	-	0	1333					NR_003083.2				solute carrier family 6 (neurotransmitter transporter), member 10, pseudogene																		GCTGGCACTGGCACAGTCTTC	0.607																																						ENST00000330048.5		NA																	0					NA																																														0							g.chr16:32893924G>A	U41163		16p11.2	2013-07-19	2013-07-19	2013-07-19	ENSG00000214617	ENSG00000214617		"""Solute carriers"""	11043	pseudogene	pseudogene	"""creatine transporter-2"""		"""solute carrier family 6 (neurotransmitter transporter, creatine), member 10"""	SLC6A10		9154116	Standard	NR_003083		Approved	CT-2	uc002edh.1		OTTHUMG00000132481		16.37:g.32893924G>A		True	False		Somatic	0						NR_003083.2		WXS	Illumina HiSeq	Phase_I					0	1333	-			NA						RNA	SNP	ENST00000330048.5	37																																																																																						0.607	SLC6A10P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432081.2	0			16:32893924
SHH	6469	broad.mit.edu	37	7	155604784	155604784	+	Silent	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr7:155604784G>A	ENST00000297261.2	-	1	183	c.33C>T	c.(31-33)gtC>gtT	p.V11V		NM_000193.2	NP_000184.1	Q15465	SHH_HUMAN	sonic hedgehog	11					androgen metabolic process (GO:0008209)|apoptotic signaling pathway (GO:0097190)|artery development (GO:0060840)|axon guidance (GO:0007411)|Bergmann glial cell differentiation (GO:0060020)|blood coagulation (GO:0007596)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|branching morphogenesis of an epithelial tube (GO:0048754)|bud outgrowth involved in lung branching (GO:0060447)|camera-type eye development (GO:0043010)|canonical Wnt signaling pathway (GO:0060070)|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment (GO:0043369)|cell development (GO:0048468)|cell fate specification (GO:0001708)|cell-cell signaling (GO:0007267)|cellular response to lithium ion (GO:0071285)|central nervous system development (GO:0007417)|cerebellar granule cell precursor proliferation (GO:0021930)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|dorsal/ventral neural tube patterning (GO:0021904)|dorsal/ventral pattern formation (GO:0009953)|ectoderm development (GO:0007398)|embryo development (GO:0009790)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic skeletal system development (GO:0048706)|endocytosis (GO:0006897)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|establishment of cell polarity (GO:0030010)|forebrain development (GO:0030900)|formation of anatomical boundary (GO:0048859)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|hindgut morphogenesis (GO:0007442)|inner ear development (GO:0048839)|intein-mediated protein splicing (GO:0016539)|intermediate filament organization (GO:0045109)|left lung development (GO:0060459)|limb bud formation (GO:0060174)|lung development (GO:0030324)|lung epithelium development (GO:0060428)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|lymphoid progenitor cell differentiation (GO:0002320)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal smoothened signaling pathway involved in prostate gland development (GO:0060783)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|metanephros development (GO:0001656)|midbrain development (GO:0030901)|multicellular structure septum development (GO:0080125)|myoblast differentiation (GO:0045445)|myotube differentiation (GO:0014902)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell migration (GO:0030336)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of kidney smooth muscle cell differentiation (GO:2000357)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of ureter smooth muscle cell differentiation (GO:2000062)|negative thymic T cell selection (GO:0045060)|neural crest cell migration (GO:0001755)|neuroblast proliferation (GO:0007405)|neuron fate commitment (GO:0048663)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|organ formation (GO:0048645)|osteoblast development (GO:0002076)|palate development (GO:0060021)|pancreas development (GO:0031016)|pattern specification process (GO:0007389)|patterning of blood vessels (GO:0001569)|polarity specification of anterior/posterior axis (GO:0009949)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of hh target transcription factor activity (GO:0007228)|positive regulation of immature T cell proliferation in thymus (GO:0033092)|positive regulation of kidney smooth muscle cell differentiation (GO:2000358)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of sclerotome development (GO:0061189)|positive regulation of skeletal muscle cell proliferation (GO:0014858)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of striated muscle cell differentiation (GO:0051155)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureter smooth muscle cell differentiation (GO:2000063)|positive regulation of Wnt signaling pathway (GO:0030177)|positive thymic T cell selection (GO:0045059)|primary prostatic bud elongation (GO:0060516)|prostate epithelial cord elongation (GO:0060523)|prostate gland development (GO:0030850)|protein localization to nucleus (GO:0034504)|regulation of cell proliferation (GO:0042127)|regulation of mesenchymal cell proliferation involved in prostate gland development (GO:0060782)|regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900175)|regulation of odontogenesis (GO:0042481)|regulation of prostatic bud formation (GO:0060685)|regulation of protein localization to nucleus (GO:1900180)|regulation of proteolysis (GO:0030162)|renal system development (GO:0072001)|right lung development (GO:0060458)|salivary gland cavitation (GO:0060662)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|somite development (GO:0061053)|spinal cord dorsal/ventral patterning (GO:0021513)|spinal cord motor neuron differentiation (GO:0021522)|stem cell development (GO:0048864)|striated muscle tissue development (GO:0014706)|T cell differentiation in thymus (GO:0033077)|telencephalon regionalization (GO:0021978)|thalamus development (GO:0021794)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|trachea morphogenesis (GO:0060439)|vasculogenesis (GO:0001570)|ventral midline development (GO:0007418)	cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|laminin-1 binding (GO:0043237)|morphogen activity (GO:0016015)|patched binding (GO:0005113)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGGAGACGAGGACTAGCAGCA	0.657																																						ENST00000297261.2		NA																	0				central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14						c.(31-33)gtC>gtT		sonic hedgehog							71.0	80.0	77.0					7																	155604784		2203	4300	6503	SO:0001819	synonymous_variant	6469				androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of T cell differentiation in thymus|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development	cell surface|extracellular space|membrane raft|plasma membrane	calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding	g.chr7:155604784G>A		CCDS5942.1	7q36	2010-06-25	2010-06-25		ENSG00000164690	ENSG00000164690			10848	protein-coding gene	gene with protein product		600725	"""sonic hedgehog (Drosophila) homolog"", ""sonic hedgehog homolog (Drosophila)"""	HPE3, HLP3		7590746	Standard	NM_000193		Approved	HHG1, SMMCI, TPT, TPTPS, MCOPCB5	uc003wmk.1	Q15465	OTTHUMG00000151349	ENST00000297261.2:c.33C>T	7.37:g.155604784G>A		False	False		Somatic	0					p.V11V	NM_000193.2	NP_000184.1	WXS	Illumina HiSeq	Phase_I	Q15465	SHH_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	1	183	-	all_neural(206;0.101)	all_hematologic(28;0.0592)	11					A4D247|Q75MC9	Silent	SNP	ENST00000297261.2	37	c.33C>T	CCDS5942.1																																																																																				0.657	SHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322327.1	0	NM_000193		7:155604784
MND1	84057	broad.mit.edu	37	4	154318479	154318479	+	Nonsense_Mutation	SNP	G	G	T	rs201358684		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr4:154318479G>T	ENST00000504860.1	+	5	458	c.415G>T	c.(415-417)Gaa>Taa	p.E139*	MND1_ENST00000240488.3_Nonsense_Mutation_p.E154*					meiotic nuclear divisions 1 homolog (S. cerevisiae)											large_intestine(2)|lung(1)	3	all_hematologic(180;0.093)					AGTTGTGGAAGAAATACGTAA	0.373																																						ENST00000240488.3		NA																	0				large_intestine(2)|lung(1)	3						c.(460-462)Gaa>Taa		meiotic nuclear divisions 1 homolog (S. cerevisiae)							84.0	79.0	81.0					4																	154318479		2203	4300	6503	SO:0001587	stop_gained	84057				DNA recombination|meiosis	nucleus	DNA binding	g.chr4:154318479G>T	AY028916	CCDS3782.1, CCDS75202.1	4q31.3	2008-02-05			ENSG00000121211	ENSG00000121211			24839	protein-coding gene	gene with protein product		611422				11940665	Standard	NM_032117		Approved	GAJ	uc003ink.2	Q9BWT6	OTTHUMG00000161523	ENST00000504860.1:c.415G>T	4.37:g.154318479G>T	ENSP00000422933:p.Glu139*	True	False		Somatic	0				MND1_ENST00000504860.1_Nonsense_Mutation_p.E139*	p.E154*	NM_001253861.1|NM_032117.3	NP_001240790.1|NP_115493.1	WXS	Illumina HiSeq	Phase_I	Q9BWT6	MND1_HUMAN			6	549	+	all_hematologic(180;0.093)		154						Nonsense_Mutation	SNP	ENST00000504860.1	37	c.460G>T		.	.	.	.	.	.	.	.	.	.	G	18.67	3.673305	0.67928	.	.	ENSG00000121211	ENST00000240488;ENST00000504860	.	.	.	5.44	5.44	0.79542	.	0.090339	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	-33.0793	16.5451	0.84443	0.0:0.0:1.0:0.0	.	.	.	.	X	154;139	.	ENSP00000240488:E154X	E	+	1	0	MND1	154537929	1.000000	0.71417	1.000000	0.80357	0.268000	0.26511	6.502000	0.73695	2.690000	0.91761	0.555000	0.69702	GAA		0.373	MND1-002	PUTATIVE	alternative_5_UTR|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000365195.1	0	NM_032117		4:154318479
RNF145	153830	broad.mit.edu	37	5	158596042	158596042	+	Silent	SNP	C	C	T	rs568537586		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:158596042C>T	ENST00000424310.2	-	8	1319	c.960G>A	c.(958-960)acG>acA	p.T320T	RNF145_ENST00000518802.1_Silent_p.T350T|RNF145_ENST00000519865.1_Silent_p.T320T|RNF145_ENST00000274542.2_Silent_p.T348T|RNF145_ENST00000520638.1_Silent_p.T334T|RNF145_ENST00000521606.2_Silent_p.T337T	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145	320						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGATTAACAGCGTTACTCCTT	0.383																																						ENST00000424310.2		NA																	0				endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						c.(958-960)acG>acA		ring finger protein 145							109.0	112.0	111.0					5																	158596042		2203	4300	6503	SO:0001819	synonymous_variant	153830					integral to membrane	zinc ion binding	g.chr5:158596042C>T	BC042684	CCDS4344.1, CCDS56390.1, CCDS56391.1, CCDS56392.1, CCDS56393.1	5q33.3	2013-01-09			ENSG00000145860	ENSG00000145860		"""RING-type (C3HC4) zinc fingers"""	20853	protein-coding gene	gene with protein product							Standard	NM_001199380		Approved	FLJ31951	uc003lxo.2	Q96MT1	OTTHUMG00000130306	ENST00000424310.2:c.960G>A	5.37:g.158596042C>T		False	False		Somatic	0				RNF145_ENST00000521606.2_Silent_p.T337T|RNF145_ENST00000520638.1_Silent_p.T334T|RNF145_ENST00000274542.2_Silent_p.T348T|RNF145_ENST00000519865.1_Silent_p.T320T|RNF145_ENST00000518802.1_Silent_p.T350T	p.T320T	NM_001199383.1	NP_001186312.1	WXS	Illumina HiSeq	Phase_I	Q96MT1	RN145_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		8	1319	-	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	320					B7Z903|B7Z949|E7EVI7|Q8IVP7	Silent	SNP	ENST00000424310.2	37	c.960G>A	CCDS56390.1																																																																																				0.383	RNF145-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374048.1	0	NM_144726		5:158596042
FSTL5	56884	broad.mit.edu	37	4	162307378	162307378	+	Missense_Mutation	SNP	A	A	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr4:162307378A>T	ENST00000306100.5	-	16	2501	c.2065T>A	c.(2065-2067)Ttc>Atc	p.F689I	RP11-234O6.2_ENST00000508189.1_RNA|FSTL5_ENST00000379164.4_Missense_Mutation_p.F688I|FSTL5_ENST00000427802.2_Missense_Mutation_p.F679I|FSTL5_ENST00000536695.1_Missense_Mutation_p.F688I	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	689						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TCACTATTGAACCCAATGACT	0.488																																						ENST00000306100.5		NA																	0				central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91						c.(2065-2067)Ttc>Atc		follistatin-like 5							132.0	120.0	124.0					4																	162307378		2203	4300	6503	SO:0001583	missense	56884					extracellular region	calcium ion binding	g.chr4:162307378A>T	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.2065T>A	4.37:g.162307378A>T	ENSP00000305334:p.Phe689Ile	True	False		Somatic	0				RP11-234O6.2_ENST00000508189.1_RNA|FSTL5_ENST00000379164.4_Missense_Mutation_p.F688I|FSTL5_ENST00000536695.1_Missense_Mutation_p.F688I|FSTL5_ENST00000427802.2_Missense_Mutation_p.F679I	p.F689I	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	WXS	Illumina HiSeq	Phase_I	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	16	2501	-	all_hematologic(180;0.24)		689					E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	ENST00000306100.5	37	c.2065T>A	CCDS3802.1	.	.	.	.	.	.	.	.	.	.	A	14.06	2.422309	0.43020	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.71817	-0.58;-0.56;-0.6;-0.56	5.55	4.38	0.52667	WD40/YVTN repeat-like-containing domain (1);	0.397737	0.31134	N	0.008186	T	0.48484	0.1502	N	0.08118	0	0.28959	N	0.889968	B;B;B	0.17268	0.021;0.007;0.01	B;B;B	0.20184	0.028;0.007;0.019	T	0.38112	-0.9676	10	0.22706	T	0.39	.	10.4916	0.44754	0.9243:0.0:0.0757:0.0	.	679;688;689	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	I	689;688;679;688	ENSP00000305334:F689I;ENSP00000368462:F688I;ENSP00000389270:F679I;ENSP00000440409:F688I	ENSP00000305334:F689I	F	-	1	0	FSTL5	162526828	1.000000	0.71417	0.663000	0.29738	0.888000	0.51559	3.708000	0.54845	0.952000	0.37798	0.533000	0.62120	TTC		0.488	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	0	NM_020116		4:162307378
NDUFB3	4709	broad.mit.edu	37	2	201943722	201943722	+	Silent	SNP	A	A	G			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr2:201943722A>G	ENST00000237889.4	+	2	440	c.117A>G	c.(115-117)aaA>aaG	p.K39K	NDUFB3_ENST00000433898.1_Silent_p.K39K|RNU6-1206P_ENST00000516339.1_RNA|NDUFB3_ENST00000454214.1_Silent_p.K39K	NM_001257102.1|NM_002491.2	NP_001244031.1|NP_002482.1	O43676	NDUB3_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa	39					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			large_intestine(1)|lung(1)|urinary_tract(1)	3						TGGCTGCAAAAGGGCTAAGGG	0.393																																						ENST00000237889.4		NA																	0				large_intestine(1)|lung(1)|urinary_tract(1)	3						c.(115-117)aaA>aaG		NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa	NADH(DB00157)						75.0	77.0	76.0					2																	201943722		2203	4300	6503	SO:0001819	synonymous_variant	4709				mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr2:201943722A>G	AF047183	CCDS2336.1	2q33.1	2011-07-04	2002-08-29		ENSG00000119013	ENSG00000119013		"""Mitochondrial respiratory chain complex / Complex I"""	7698	protein-coding gene	gene with protein product	"""complex I B12 subunit"""	603839	"""NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3 (12kD, B12)"""			9425316, 11474204	Standard	NM_002491		Approved	B12	uc002uwx.4	O43676	OTTHUMG00000132820	ENST00000237889.4:c.117A>G	2.37:g.201943722A>G		True	False		Somatic	0				NDUFB3_ENST00000454214.1_Silent_p.K39K|NDUFB3_ENST00000433898.1_Silent_p.K39K	p.K39K	NM_001257102.1|NM_002491.2	NP_001244031.1|NP_002482.1	WXS	Illumina HiSeq	Phase_I	O43676	NDUB3_HUMAN			2	440	+			39					Q6IB80	Silent	SNP	ENST00000237889.4	37	c.117A>G	CCDS2336.1																																																																																				0.393	NDUFB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256277.1	0	NM_002491		2:201943722
CELF3	11189	broad.mit.edu	37	1	151680404	151680404	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:151680404G>A	ENST00000290583.4	-	6	1287	c.494C>T	c.(493-495)tCg>tTg	p.S165L	RP11-98D18.1_ENST00000457548.1_RNA|CELF3_ENST00000470688.1_5'UTR|CELF3_ENST00000290585.4_Missense_Mutation_p.S165L|RIIAD1_ENST00000326413.3_5'Flank|AL589765.1_ENST00000442233.2_5'Flank|CELF3_ENST00000392706.3_5'Flank	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN	CUGBP, Elav-like family member 3	165	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA splicing, via spliceosome (GO:0000398)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						CAGGCTGGACGAGGCACCCTG	0.647																																						ENST00000290583.4		NA																	0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						c.(493-495)tCg>tTg		CUGBP, Elav-like family member 3							48.0	40.0	43.0					1																	151680404		2203	4300	6503	SO:0001583	missense	11189				nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	mRNA binding|nucleotide binding	g.chr1:151680404G>A	U80759	CCDS1002.1, CCDS53367.1	1q21	2013-02-12	2010-02-19	2010-02-19	ENSG00000159409	ENSG00000159409		"""Trinucleotide (CAG) repeat containing"", ""RNA binding motif (RRM) containing"""	11967	protein-coding gene	gene with protein product	"""expanded repeat domain, CAG/CTG 4"", ""CAG repeat domain"", ""CUG-BP and ETR-3 like factor 3"""	612678	"""trinucleotide repeat containing 4"""	TNRC4		9225980	Standard	XM_005244859		Approved	CAGH4, BRUNOL1, ERDA4, MGC57297	uc001eys.2	Q5SZQ8	OTTHUMG00000013064	ENST00000290583.4:c.494C>T	1.37:g.151680404G>A	ENSP00000290583:p.Ser165Leu	False	False		Somatic	0				RP11-98D18.1_ENST00000457548.1_RNA|CELF3_ENST00000470688.1_5'UTR|CELF3_ENST00000290585.4_Missense_Mutation_p.S165L	p.S165L	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	WXS	Illumina HiSeq	Phase_I	Q5SZQ8	CELF3_HUMAN			6	1287	-			165			RRM 2.		B7ZKK6|O15414|Q499Y6|Q5SZQ7|Q6NVK0|Q8IZ98|Q9BZC2|Q9HB30	Missense_Mutation	SNP	ENST00000290583.4	37	c.494C>T	CCDS1002.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	24.9|24.9	4.582586|4.582586	0.86748|0.86748	.|.	.|.	ENSG00000159409|ENSG00000159409	ENST00000420342|ENST00000290585;ENST00000290583;ENST00000368833	.|T;T	.|0.06449	.|3.3;3.3	3.75|3.75	3.75|3.75	0.43078|0.43078	.|Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.10165|0.10165	0.0249|0.0249	L|L	0.43152|0.43152	1.355|1.355	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|0.998;1.0;0.999;0.999;0.998	.|P;D;D;P;P	.|0.64877	.|0.834;0.93;0.918;0.887;0.819	T|T	0.04078|0.04078	-1.0979|-1.0979	5|10	.|0.87932	.|D	.|0	-4.7861|-4.7861	14.6626|14.6626	0.68882|0.68882	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|165;165;164;165;164	.|Q5SZQ7;Q5SZQ8-2;F8W6B7;Q5SZQ8;Q5SZQ8-3	.|.;.;.;CELF3_HUMAN;.	C|L	166|165;165;164	.|ENSP00000290585:S165L;ENSP00000290583:S165L	.|ENSP00000290583:S165L	R|S	-|-	1|2	0|0	CELF3|CELF3	149947028|149947028	1.000000|1.000000	0.71417|0.71417	0.985000|0.985000	0.45067|0.45067	0.999000|0.999000	0.98932|0.98932	9.566000|9.566000	0.98157|0.98157	2.098000|2.098000	0.63641|0.63641	0.655000|0.655000	0.94253|0.94253	CGT|TCG		0.647	CELF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036663.2	0	NM_007185		1:151680404
ME3	10873	broad.mit.edu	37	11	86158183	86158183	+	Missense_Mutation	SNP	C	C	T	rs15926		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr11:86158183C>T	ENST00000393324.3	-	11	1557	c.1304G>A	c.(1303-1305)cGc>cAc	p.R435H	ME3_ENST00000543262.1_Missense_Mutation_p.R435H|ME3_ENST00000359636.2_Missense_Mutation_p.R435H|RP11-317J19.1_ENST00000524610.1_RNA	NM_001014811.1	NP_001014811.1	Q16798	MAON_HUMAN	malic enzyme 3, NADP(+)-dependent, mitochondrial	435					aerobic respiration (GO:0009060)|malate metabolic process (GO:0006108)|oxidation-reduction process (GO:0055114)|oxygen metabolic process (GO:0072592)|pyruvate metabolic process (GO:0006090)	mitochondrion (GO:0005739)	cofactor binding (GO:0048037)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|malate dehydrogenase (decarboxylating) (NADP+) activity (GO:0004473)|malic enzyme activity (GO:0004470)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|oxaloacetate decarboxylase activity (GO:0008948)			endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)				GATGATAGGGCGCTCGTGGAA	0.622																																						ENST00000543262.1		NA																	0				endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27						c.(1303-1305)cGc>cAc		malic enzyme 3, NADP(+)-dependent, mitochondrial	NADH(DB00157)						80.0	73.0	76.0					11																	86158183		2202	4299	6501	SO:0001583	missense	10873				aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process	mitochondrial matrix	malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding	g.chr11:86158183C>T	X79440	CCDS8277.1	11q14.2	2012-09-20			ENSG00000151376	ENSG00000151376	1.1.1.40		6985	protein-coding gene	gene with protein product		604626				7818469	Standard	NM_001161586		Approved		uc001pbz.3	Q16798	OTTHUMG00000167217	ENST00000393324.3:c.1304G>A	11.37:g.86158183C>T	ENSP00000376998:p.Arg435His	True	False		Somatic	0				ME3_ENST00000393324.3_Missense_Mutation_p.R435H|RP11-317J19.1_ENST00000524610.1_RNA|ME3_ENST00000359636.2_Missense_Mutation_p.R435H	p.R435H	NM_001161586.1	NP_001155058.1	WXS	Illumina HiSeq	Phase_I	Q16798	MAON_HUMAN			12	1630	-		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)	435					B7Z6V0|Q8TBJ0	Missense_Mutation	SNP	ENST00000393324.3	37	c.1304G>A	CCDS8277.1	.	.	.	.	.	.	.	.	.	.	C	12.73	2.025030	0.35701	.	.	ENSG00000151376	ENST00000359636;ENST00000543262;ENST00000393324;ENST00000524826	T;T;T;T	0.48522	0.81;0.81;0.81;0.81	5.38	3.42	0.39159	Malic enzyme, NAD-binding (2);NAD(P)-binding domain (1);	0.098256	0.64402	N	0.000002	T	0.48926	0.1527	M	0.81802	2.56	0.80722	D	1	B	0.19331	0.035	B	0.21546	0.035	T	0.43343	-0.9397	9	.	.	.	.	11.3629	0.49655	0.0:0.845:0.0:0.155	.	435	Q16798	MAON_HUMAN	H	435	ENSP00000352657:R435H;ENSP00000440246:R435H;ENSP00000376998:R435H;ENSP00000431182:R435H	.	R	-	2	0	ME3	85835831	1.000000	0.71417	0.997000	0.53966	0.096000	0.18686	3.210000	0.51129	0.683000	0.31428	-0.355000	0.07637	CGC		0.622	ME3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393767.2	0			11:86158183
SMARCE1	6605	broad.mit.edu	37	17	38787103	38787103	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr17:38787103C>T	ENST00000348513.6	-	10	1670	c.890G>A	c.(889-891)cGc>cAc	p.R297H	KRT222_ENST00000476049.1_3'UTR|SMARCE1_ENST00000580419.1_Missense_Mutation_p.R262H|SMARCE1_ENST00000431889.2_Missense_Mutation_p.R279H|SMARCE1_ENST00000544009.1_Missense_Mutation_p.R227H|SMARCE1_ENST00000578044.1_Missense_Mutation_p.R227H|SMARCE1_ENST00000377808.4_Missense_Mutation_p.R262H|SMARCE1_ENST00000400122.3_Missense_Mutation_p.R227H	NM_003079.4	NP_003070.3	Q969G3	SMCE1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1	297					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|metabolic process (GO:0008152)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|N-acetyltransferase activity (GO:0008080)|protein N-terminus binding (GO:0047485)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)	p.R297H(1)		large_intestine(1)	1		Breast(137;0.000812)				CTGCCTTTTGCGGGCCTGTTC	0.507																																						ENST00000348513.6		NA																	1	Substitution - Missense(1)	p.R297H(1)	large_intestine(1)	large_intestine(1)	1						c.(889-891)cGc>cAc		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1							122.0	106.0	111.0					17																	38787103		2203	4300	6503	SO:0001583	missense	6605				chromatin modification|negative regulation of transcription, DNA-dependent|nervous system development|nucleosome disassembly|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nuclear chromosome|SWI/SNF complex|transcriptional repressor complex	chromatin binding|DNA binding|N-acetyltransferase activity|protein binding|protein N-terminus binding|transcription coactivator activity	g.chr17:38787103C>T	AF035262	CCDS11370.1	17q21.2	2006-09-20			ENSG00000073584	ENSG00000073584			11109	protein-coding gene	gene with protein product		603111				9435219	Standard	NM_003079		Approved	BAF57	uc002hux.2	Q969G3	OTTHUMG00000133367	ENST00000348513.6:c.890G>A	17.37:g.38787103C>T	ENSP00000323967:p.Arg297His	True	False		Somatic	0				SMARCE1_ENST00000544009.1_Missense_Mutation_p.R227H|SMARCE1_ENST00000377808.4_Missense_Mutation_p.R262H|SMARCE1_ENST00000578044.1_Missense_Mutation_p.R227H|SMARCE1_ENST00000431889.2_Missense_Mutation_p.R279H|SMARCE1_ENST00000400122.3_Missense_Mutation_p.R227H|KRT222_ENST00000476049.1_3'UTR|SMARCE1_ENST00000580419.1_Missense_Mutation_p.R262H	p.R297H	NM_003079.4	NP_003070.3	WXS	Illumina HiSeq	Phase_I	Q969G3	SMCE1_HUMAN			10	1670	-		Breast(137;0.000812)	297					B3KMC1|B4DFR4|C0IMW4|C0IMW5|C0IMW7|H7C3F6|O43539	Missense_Mutation	SNP	ENST00000348513.6	37	c.890G>A	CCDS11370.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.53|17.53	3.412636|3.412636	0.62511|0.62511	.|.	.|.	ENSG00000073584|ENSG00000073584	ENST00000400122|ENST00000348513;ENST00000544009;ENST00000431889;ENST00000377808;ENST00000447024	.|T;T;T	.|0.20598	.|2.07;2.06;2.3	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	.|0.048290	.|0.85682	.|D	.|0.000000	T|T	0.44993|0.44993	0.1320|0.1320	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.76494	.|0.999;0.999;0.999	.|D;D;D	.|0.76071	.|0.987;0.98;0.98	T|T	0.28332|0.28332	-1.0047|-1.0047	5|10	.|0.72032	.|D	.|0.01	.|.	19.7017|19.7017	0.96057|0.96057	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|262;262;297	.|C0IMW5;C0IMW4;Q969G3	.|.;.;SMCE1_HUMAN	T|H	123|297;227;279;262;91	.|ENSP00000323967:R297H;ENSP00000445370:R279H;ENSP00000367039:R262H	.|ENSP00000323967:R297H	A|R	-|-	1|2	0|0	SMARCE1|SMARCE1	36040629|36040629	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.872000|0.872000	0.50106|0.50106	6.978000|6.978000	0.76147|0.76147	2.724000|2.724000	0.93272|0.93272	0.561000|0.561000	0.74099|0.74099	GCA|CGC		0.507	SMARCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257203.1	0	NM_003079		17:38787103
CEP63	80254	broad.mit.edu	37	3	134278030	134278030	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:134278030C>T	ENST00000337090.3	+	14	1885	c.1712C>T	c.(1711-1713)aCt>aTt	p.T571I	CEP63_ENST00000354446.3_Intron|CEP63_ENST00000513612.2_Missense_Mutation_p.T571I|CEP63_ENST00000383229.3_Intron|CEP63_ENST00000606977.1_Missense_Mutation_p.T571I|CEP63_ENST00000332047.5_Intron			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa	571					centriole replication (GO:0007099)|DNA damage checkpoint (GO:0000077)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|signal transduction in response to DNA damage (GO:0042770)|spindle assembly (GO:0051225)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|spindle pole (GO:0000922)				kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GGAATAAAGACTGAGCACTAC	0.428																																						ENST00000337090.3		NA																	0				kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(1711-1713)aCt>aTt		centrosomal protein 63kDa							138.0	137.0	137.0					3																	134278030		2203	4300	6503	SO:0001583	missense	80254				cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding	g.chr3:134278030C>T	AK056465	CCDS3086.1, CCDS43152.1, CCDS43153.1, CCDS43154.1	3q22.1	2014-02-20			ENSG00000182923	ENSG00000182923			25815	protein-coding gene	gene with protein product		614724				14654843, 24240477	Standard	NM_001042383		Approved	FLJ13386	uc003eqo.1	Q96MT8	OTTHUMG00000159725	ENST00000337090.3:c.1712C>T	3.37:g.134278030C>T	ENSP00000336524:p.Thr571Ile	False	False		Somatic	0				CEP63_ENST00000383229.3_Intron|CEP63_ENST00000332047.5_Intron|CEP63_ENST00000606977.1_Missense_Mutation_p.T571I|CEP63_ENST00000354446.3_Intron|CEP63_ENST00000513612.2_Missense_Mutation_p.T571I	p.T571I			WXS	Illumina HiSeq	Phase_I	Q96MT8	CEP63_HUMAN			14	1885	+			571					D3DND8|D3DND9|D3DNE0|Q96CR0|Q9H8F5|Q9H8N0	Missense_Mutation	SNP	ENST00000337090.3	37	c.1712C>T	CCDS3086.1	.	.	.	.	.	.	.	.	.	.	C	5.920	0.353755	0.11182	.	.	ENSG00000182923	ENST00000337090;ENST00000513612	T;T	0.18174	2.23;2.23	4.77	2.93	0.34026	.	1.163120	0.06370	N	0.713479	T	0.16769	0.0403	L	0.47716	1.5	0.25605	N	0.986555	B	0.06786	0.001	B	0.09377	0.004	T	0.29549	-1.0008	10	0.35671	T	0.21	-0.0211	6.73	0.23379	0.0:0.7252:0.1782:0.0966	.	571	Q96MT8	CEP63_HUMAN	I	571	ENSP00000336524:T571I;ENSP00000426129:T571I	ENSP00000336524:T571I	T	+	2	0	CEP63	135760720	1.000000	0.71417	0.646000	0.29493	0.835000	0.47333	0.453000	0.21811	0.677000	0.31305	-0.143000	0.13931	ACT		0.428	CEP63-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000470139.1	0	NM_025180		3:134278030
GUCY2C	2984	broad.mit.edu	37	12	14766211	14766211	+	Missense_Mutation	SNP	C	C	T	rs118078831	byFrequency	TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:14766211C>T	ENST00000261170.3	-	27	3198	c.3062G>A	c.(3061-3063)cGt>cAt	p.R1021H	RP11-695J4.2_ENST00000545424.1_RNA|RP11-695J4.2_ENST00000542401.1_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	1021					intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	TGCTTGCAAACGCTGTTGATT	0.413													C|||	2	0.000399361	0.0	0.0	5008	,	,		19834	0.002		0.0	False		,,,				2504	0.0					ENST00000261170.3		NA																	0				breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						c.(3061-3063)cGt>cAt		guanylate cyclase 2C (heat stable enterotoxin receptor)		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	155.0	164.0	161.0		3062	4.8	1.0	12	dbSNP_133	161	1,8599		0,1,4299	yes	missense	GUCY2C	NM_004963.3	29	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	1021/1074	14766211	2,13004	2203	4300	6503	SO:0001583	missense	2984				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity	g.chr12:14766211C>T		CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.3062G>A	12.37:g.14766211C>T	ENSP00000261170:p.Arg1021His	True	False		Somatic	0				RP11-695J4.2_ENST00000542401.1_RNA|RP11-695J4.2_ENST00000545424.1_RNA	p.R1021H	NM_004963.3	NP_004954.2	WXS	Illumina HiSeq	Phase_I	P25092	GUC2C_HUMAN			27	3198	-			1021					B2RMY6	Missense_Mutation	SNP	ENST00000261170.3	37	c.3062G>A	CCDS8664.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	14.52	2.560274	0.45590	2.27E-4	1.16E-4	ENSG00000070019	ENST00000261170	D	0.81659	-1.52	5.85	4.78	0.61160	.	0.209202	0.48767	D	0.000168	T	0.73265	0.3565	L	0.39147	1.195	0.58432	D	0.999994	B	0.25272	0.122	B	0.20955	0.032	T	0.70346	-0.4897	10	0.42905	T	0.14	.	14.7732	0.69696	0.0:0.8799:0.0:0.1201	.	1021	P25092	GUC2C_HUMAN	H	1021	ENSP00000261170:R1021H	ENSP00000261170:R1021H	R	-	2	0	GUCY2C	14657478	0.984000	0.35163	0.979000	0.43373	0.997000	0.91878	2.584000	0.46102	2.773000	0.95371	0.655000	0.94253	CGT		0.413	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400835.1	0			12:14766211
P2RY1	5028	broad.mit.edu	37	3	152553971	152553971	+	Missense_Mutation	SNP	A	A	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:152553971A>T	ENST00000305097.3	+	1	1236	c.400A>T	c.(400-402)Aac>Tac	p.N134Y		NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	134					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|aging (GO:0007568)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cell surface receptor signaling pathway (GO:0007166)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of binding (GO:0051100)|negative regulation of norepinephrine secretion (GO:0010700)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of hormone secretion (GO:0046887)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of ion transport (GO:0043270)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to plasma membrane (GO:0072659)|regulation of receptor activity (GO:0010469)|regulation of vasodilation (GO:0042312)|relaxation of muscle (GO:0090075)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|sensory perception of pain (GO:0019233)|signal transduction involved in regulation of gene expression (GO:0023019)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ADP binding (GO:0043531)|ADP-activated nucleotide receptor activity (GO:0045032)|ATP binding (GO:0005524)|ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)|scaffold protein binding (GO:0097110)			breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			CTTTCATGTGAACCTCTATGG	0.507																																						ENST00000305097.3		NA																	0				breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23						c.(400-402)Aac>Tac		purinergic receptor P2Y, G-protein coupled, 1							79.0	75.0	77.0					3																	152553971		2203	4300	6503	SO:0001583	missense	5028				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:152553971A>T	U42029	CCDS3169.1	3q25.2	2012-08-08			ENSG00000169860	ENSG00000169860		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8539	protein-coding gene	gene with protein product		601167				8579591	Standard	NM_002563		Approved	P2Y1	uc003ezq.3	P47900	OTTHUMG00000159694	ENST00000305097.3:c.400A>T	3.37:g.152553971A>T	ENSP00000304767:p.Asn134Tyr	False	False		Somatic	0					p.N134Y	NM_002563.3	NP_002554.1	WXS	Illumina HiSeq	Phase_I	P47900	P2RY1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)		1	1236	+			134						Missense_Mutation	SNP	ENST00000305097.3	37	c.400A>T	CCDS3169.1	.	.	.	.	.	.	.	.	.	.	A	25.8	4.675868	0.88445	.	.	ENSG00000169860	ENST00000305097	T	0.38560	1.13	5.76	5.76	0.90799	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.71913	0.3396	M	0.91717	3.235	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79165	-0.1916	10	0.87932	D	0	.	15.2728	0.73717	1.0:0.0:0.0:0.0	.	134	P47900	P2RY1_HUMAN	Y	134	ENSP00000304767:N134Y	ENSP00000304767:N134Y	N	+	1	0	P2RY1	154036661	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	9.210000	0.95106	2.186000	0.69663	0.533000	0.62120	AAC		0.507	P2RY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356943.1	0	NM_002563		3:152553971
SENP5	205564	broad.mit.edu	37	3	196612958	196612958	+	Silent	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:196612958G>A	ENST00000323460.5	+	2	1155	c.906G>A	c.(904-906)cgG>cgA	p.R302R	SENP5_ENST00000419026.1_Intron|SENP5_ENST00000445299.2_Silent_p.R302R	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	302					cell cycle (GO:0007049)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		CTTCTTGTCGGCATCAGCCGT	0.532																																					Ovarian(47;891 1095 11174 13858 51271)	ENST00000323460.5		NA																	0				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32						c.(904-906)cgG>cgA		SUMO1/sentrin specific peptidase 5							89.0	85.0	86.0					3																	196612958		2203	4300	6503	SO:0001819	synonymous_variant	205564				cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity	g.chr3:196612958G>A	BC030705	CCDS3322.1	3q29	2005-08-17	2005-08-17		ENSG00000119231	ENSG00000119231			28407	protein-coding gene	gene with protein product		612845	"""SUMO1/sentrin specific protease 5"""			12477932	Standard	NM_152699		Approved	MGC27076	uc003fwz.4	Q96HI0	OTTHUMG00000155527	ENST00000323460.5:c.906G>A	3.37:g.196612958G>A		False	False		Somatic	0				SENP5_ENST00000445299.2_Silent_p.R302R|SENP5_ENST00000419026.1_Intron	p.R302R	NM_152699.4	NP_689912.2	WXS	Illumina HiSeq	Phase_I	Q96HI0	SENP5_HUMAN	Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)	2	1155	+	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		302					B4DY82|Q96SA5	Silent	SNP	ENST00000323460.5	37	c.906G>A	CCDS3322.1																																																																																				0.532	SENP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340524.1	0	NM_152699		3:196612958
KIAA1377	57562	broad.mit.edu	37	11	101833633	101833633	+	Missense_Mutation	SNP	A	A	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr11:101833633A>T	ENST00000263468.8	+	6	2137	c.1867A>T	c.(1867-1869)Att>Ttt	p.I623F	KIAA1377_ENST00000537689.1_Missense_Mutation_p.I424F	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	623										breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		AGGTGCAGAAATTCCAAAGAC	0.318																																						ENST00000263468.8		NA																	0				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53						c.(1867-1869)Att>Ttt		KIAA1377							33.0	37.0	35.0					11																	101833633		2201	4295	6496	SO:0001583	missense	57562						protein binding	g.chr11:101833633A>T	AK095004	CCDS31658.1	11q22.2	2006-02-03			ENSG00000110318	ENSG00000110318			29264	protein-coding gene	gene with protein product		614634				10718198	Standard	XM_005271627		Approved		uc001pgm.3	Q9P2H0	OTTHUMG00000167319	ENST00000263468.8:c.1867A>T	11.37:g.101833633A>T	ENSP00000263468:p.Ile623Phe	True	False		Somatic	0				KIAA1377_ENST00000537689.1_Missense_Mutation_p.I424F	p.I623F	NM_020802.2	NP_065853.2	WXS	Illumina HiSeq	Phase_I	Q9P2H0	K1377_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.038)	6	2137	+	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)	623					Q4G0U6	Missense_Mutation	SNP	ENST00000263468.8	37	c.1867A>T	CCDS31658.1	.	.	.	.	.	.	.	.	.	.	A	12.49	1.953067	0.34471	.	.	ENSG00000110318	ENST00000263468;ENST00000537689	T;T	0.08807	3.05;3.05	5.42	4.26	0.50523	.	0.353806	0.27206	N	0.020421	T	0.19446	0.0467	M	0.68317	2.08	0.33432	D	0.581278	D	0.53151	0.958	P	0.54312	0.748	T	0.22556	-1.0213	10	0.48119	T	0.1	-7.3063	12.5825	0.56397	0.8611:0.1389:0.0:0.0	.	623	Q9P2H0	K1377_HUMAN	F	623;424	ENSP00000263468:I623F;ENSP00000443184:I424F	ENSP00000263468:I623F	I	+	1	0	KIAA1377	101338843	0.995000	0.38212	0.784000	0.31847	0.115000	0.19883	3.384000	0.52478	0.952000	0.37798	0.459000	0.35465	ATT		0.318	KIAA1377-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394140.1	0	NM_020802		11:101833633
MPHOSPH8	54737	broad.mit.edu	37	13	20221309	20221309	+	Missense_Mutation	SNP	C	C	G			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr13:20221309C>G	ENST00000361479.5	+	3	1164	c.1096C>G	c.(1096-1098)Caa>Gaa	p.Q366E	MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.Q366E	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	366					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of DNA methylation (GO:0044030)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nuclear nucleosome (GO:0000788)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	methylated histone binding (GO:0035064)			breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		GCAGAGGAATCAAGACAGAAG	0.502																																						ENST00000361479.5		NA																	0				breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1096-1098)Caa>Gaa		M-phase phosphoprotein 8							48.0	49.0	48.0					13																	20221309		2203	4300	6503	SO:0001583	missense	54737				cell cycle	cytoplasm|nucleus		g.chr13:20221309C>G	AK056785, AJ293409	CCDS9287.1	13q12.11	2013-01-10			ENSG00000196199	ENSG00000196199		"""Ankyrin repeat domain containing"""	29810	protein-coding gene	gene with protein product		611626				8885239	Standard	NM_017520		Approved	mpp8, HSMPP8	uc001umh.3	Q99549	OTTHUMG00000016498	ENST00000361479.5:c.1096C>G	13.37:g.20221309C>G	ENSP00000355388:p.Gln366Glu	False	False		Somatic	0				MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.Q366E	p.Q366E	NM_017520.3	NP_059990.2	WXS	Illumina HiSeq	Phase_I	Q99549	MPP8_HUMAN		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)	3	1164	+		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)	366					B7Z6F9|Q5JPE5|Q5JTQ0|Q86TK3|Q96MK4|Q9BTP1	Missense_Mutation	SNP	ENST00000361479.5	37	c.1096C>G	CCDS9287.1	.	.	.	.	.	.	.	.	.	.	C	8.005	0.756354	0.15846	.	.	ENSG00000196199	ENST00000414242;ENST00000361479;ENST00000538024	T;T	0.35048	1.34;1.33	5.61	5.61	0.85477	.	1.796160	0.02353	N	0.076114	T	0.48077	0.1480	L	0.58101	1.795	0.41991	D	0.990848	P;B;P;B	0.41131	0.739;0.435;0.571;0.435	B;B;B;B	0.40782	0.34;0.15;0.225;0.152	T	0.49341	-0.8950	10	0.25106	T	0.35	.	19.6274	0.95684	0.0:1.0:0.0:0.0	.	366;366;366;366	F5H8H9;Q99549;Q99549-2;B3KS10	.;MPP8_HUMAN;.;.	E	366	ENSP00000414663:Q366E;ENSP00000355388:Q366E	ENSP00000355388:Q366E	Q	+	1	0	MPHOSPH8	19119309	1.000000	0.71417	0.852000	0.33557	0.180000	0.23129	4.294000	0.59043	2.634000	0.89283	0.585000	0.79938	CAA		0.502	MPHOSPH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044028.2	0	NM_017520		13:20221309
RP1L1	94137	broad.mit.edu	37	8	10470667	10470667	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr8:10470667C>T	ENST00000382483.3	-	4	1164	c.941G>A	c.(940-942)cGc>cAc	p.R314H		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	314					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTCATTCATGCGGACCTTCTT	0.662																																						ENST00000382483.3		NA																	0				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148						c.(940-942)cGc>cAc		retinitis pigmentosa 1-like 1							83.0	92.0	89.0					8																	10470667		2131	4235	6366	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10470667C>T	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.941G>A	8.37:g.10470667C>T	ENSP00000371923:p.Arg314His	False	False		Somatic	0					p.R314H	NM_178857.5	NP_849188.4	WXS	Illumina HiSeq	Phase_I	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	1164	-			314					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.941G>A	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	C	11.27	1.589738	0.28357	.	.	ENSG00000183638	ENST00000382483	T	0.03745	3.82	4.82	-5.91	0.02269	.	1.397370	0.05168	N	0.499120	T	0.03136	0.0092	N	0.19112	0.55	0.09310	N	1	B	0.23058	0.079	B	0.12837	0.008	T	0.35822	-0.9773	10	0.21014	T	0.42	-0.1093	16.5366	0.84374	0.0:0.105:0.0:0.895	.	314	A6NKC6	.	H	314	ENSP00000371923:R314H	ENSP00000371923:R314H	R	-	2	0	RP1L1	10508077	0.003000	0.15002	0.013000	0.15412	0.915000	0.54546	0.048000	0.14078	-1.353000	0.02191	0.591000	0.81541	CGC		0.662	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1	0			8:10470667
CAMKK2	10645	broad.mit.edu	37	12	121698198	121698198	+	Intron	SNP	G	G	A	rs200694005	byFrequency	TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:121698198G>A	ENST00000324774.5	-	7	1588				CAMKK2_ENST00000337174.3_Intron|CAMKK2_ENST00000392473.2_Intron|CAMKK2_ENST00000545538.1_Silent_p.P27P|CAMKK2_ENST00000538733.1_Intron|CAMKK2_ENST00000535524.1_Intron|CAMKK2_ENST00000446440.2_Intron|CAMKK2_ENST00000347034.2_Intron|CAMKK2_ENST00000392474.2_Intron|CAMKK2_ENST00000412367.2_Intron|CAMKK2_ENST00000402834.4_Intron|CAMKK2_ENST00000404169.3_Intron	NM_006549.3	NP_006540.3	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase kinase 2, beta						calcium-mediated signaling (GO:0019722)|MAPK cascade (GO:0000165)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|protein tyrosine kinase activity (GO:0004713)			endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GACGGATGGCGGGGGAGAAAA	0.552													G|||	4	0.000798722	0.0	0.0	5008	,	,		18239	0.0		0.0	False		,,,				2504	0.0041					ENST00000545538.1		NA																	0				endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						c.(79-81)ccC>ccT		calcium/calmodulin-dependent protein kinase kinase 2, beta																																				SO:0001627	intron_variant	10645				calcium-mediated signaling|MAPKKK cascade|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity	cytoplasm	ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity	g.chr12:121698198G>A	AF101264	CCDS9216.1, CCDS9217.1, CCDS9218.1, CCDS9219.1, CCDS44999.1, CCDS53837.1, CCDS58283.1	12q24.2	2002-08-13				ENSG00000110931			1470	protein-coding gene	gene with protein product		615002				9662074	Standard	NM_172226		Approved	CAMKK, KIAA0787, CAMKKB, MGC15254	uc001tzu.3	Q96RR4		ENST00000324774.5:c.760-40C>T	12.37:g.121698198G>A		True	False		Somatic	0				CAMKK2_ENST00000337174.3_Intron|CAMKK2_ENST00000535524.1_Intron|CAMKK2_ENST00000538733.1_Intron|CAMKK2_ENST00000404169.3_Intron|CAMKK2_ENST00000324774.5_Intron|CAMKK2_ENST00000446440.2_Intron|CAMKK2_ENST00000392474.2_Intron|CAMKK2_ENST00000412367.2_Intron|CAMKK2_ENST00000392473.2_Intron|CAMKK2_ENST00000347034.2_Intron|CAMKK2_ENST00000402834.4_Intron	p.P27P			WXS	Illumina HiSeq	Phase_I	Q96RR4	KKCC2_HUMAN			1	147	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		0					A8K7Q7|O94883|Q8IUG2|Q8IUG3|Q8N3I4|Q8WY03|Q8WY04|Q8WY05|Q8WY06|Q96RP1|Q96RP2|Q96RR3|Q9BWE9|Q9UER3|Q9UES2|Q9Y5N2	Silent	SNP	ENST00000324774.5	37	c.81C>T	CCDS9216.1																																																																																				0.552	CAMKK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402563.1	0	NM_172226		12:121698198
L3MBTL2	83746	broad.mit.edu	37	22	41625557	41625557	+	Silent	SNP	G	G	A	rs540563633		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr22:41625557G>A	ENST00000216237.5	+	16	2060	c.1902G>A	c.(1900-1902)ccG>ccA	p.P634P	CHADL_ENST00000216241.9_3'UTR	NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	634					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AAAGAATCCCGCCCACTAAGA	0.542													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17370	0.0		0.0	False		,,,				2504	0.0					ENST00000216237.5		NA																	0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1900-1902)ccG>ccA		l(3)mbt-like 2 (Drosophila)							47.0	49.0	48.0					22																	41625557		2203	4300	6503	SO:0001819	synonymous_variant	83746				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding	g.chr22:41625557G>A	AJ305226	CCDS14011.1	22q13.31-q13.33	2008-06-11			ENSG00000100395	ENSG00000100395			18594	protein-coding gene	gene with protein product		611865				11682070	Standard	NM_031488		Approved	H-l(3)mbt-l, DKFZP761I141, dJ756G23.3	uc003azo.3	Q969R5	OTTHUMG00000150942	ENST00000216237.5:c.1902G>A	22.37:g.41625557G>A		True	False		Somatic	0				CHADL_ENST00000216241.9_3'UTR	p.P634P	NM_031488.4	NP_113676.2	WXS	Illumina HiSeq	Phase_I	Q969R5	LMBL2_HUMAN			16	2060	+			634					Q8TEN1|Q96SC4|Q9BQI2|Q9UGS4	Silent	SNP	ENST00000216237.5	37	c.1902G>A	CCDS14011.1																																																																																				0.542	L3MBTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320613.1	0	NM_031488		22:41625557
IFT140	9742	broad.mit.edu	37	16	1657152	1657152	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr16:1657152G>A	ENST00000426508.2	-	3	479	c.116C>T	c.(115-117)tCa>tTa	p.S39L	IFT140_ENST00000439987.2_5'UTR|LA16c-395F10.2_ENST00000563162.1_RNA	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	39					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				GCTGCCTGTTGAGGTTGTGCT	0.522																																						ENST00000426508.2		NA																	0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53						c.(115-117)tCa>tTa		intraflagellar transport 140 homolog (Chlamydomonas)							214.0	182.0	193.0					16																	1657152		2199	4300	6499	SO:0001583	missense	9742							g.chr16:1657152G>A	AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29077	protein-coding gene	gene with protein product		614620	"""WD and tetratricopeptide repeats 2"", ""intraflagellar transport 140 homolog (Chlamydomonas)"""	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.116C>T	16.37:g.1657152G>A	ENSP00000406012:p.Ser39Leu	False	False		Somatic	0				LA16c-395F10.2_ENST00000563162.1_RNA|IFT140_ENST00000439987.2_5'UTR	p.S39L	NM_014714.3	NP_055529.2	WXS	Illumina HiSeq	Phase_I	Q96RY7	IF140_HUMAN			3	479	-		Hepatocellular(780;0.219)	39					A2A2A8|D3DU75|O60332|Q9UG52	Missense_Mutation	SNP	ENST00000426508.2	37	c.116C>T	CCDS10439.1	.	.	.	.	.	.	.	.	.	.	G	7.782	0.709735	0.15239	.	.	ENSG00000187535	ENST00000397417;ENST00000426508;ENST00000439987	T;T	0.65178	-0.14;-0.14	5.53	3.52	0.40303	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.614492	0.17548	N	0.170274	T	0.50922	0.1644	L	0.49126	1.545	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.39313	-0.9620	10	0.31617	T	0.26	.	6.0312	0.19681	0.1449:0.0:0.7042:0.1509	.	39	Q96RY7	IF140_HUMAN	L	39	ENSP00000380562:S39L;ENSP00000406012:S39L	ENSP00000380562:S39L	S	-	2	0	IFT140	1597153	0.000000	0.05858	0.006000	0.13384	0.029000	0.11900	0.693000	0.25497	0.653000	0.30826	0.655000	0.94253	TCA		0.522	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	0	NM_014714		16:1657152
ZNF70	7621	broad.mit.edu	37	22	24086056	24086056	+	Silent	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr22:24086056G>A	ENST00000341976.3	-	2	1732	c.1272C>T	c.(1270-1272)tgC>tgT	p.C424C		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	424					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						AGGACTTGCCGCACAGATTGC	0.547																																						ENST00000341976.3		NA																	0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						c.(1270-1272)tgC>tgT		zinc finger protein 70							113.0	111.0	112.0					22																	24086056		2203	4300	6503	SO:0001819	synonymous_variant	7621					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr22:24086056G>A	X60077	CCDS13812.1	22q11.23	2013-01-08	2006-05-12		ENSG00000187792	ENSG00000187792		"""Zinc fingers, C2H2-type"""	13140	protein-coding gene	gene with protein product		194544	"""zinc finger protein 70 (Cos17)"""			1639391	Standard	NM_021916		Approved	Cos17, MGC48959	uc002zxs.3	Q9UC06	OTTHUMG00000150739	ENST00000341976.3:c.1272C>T	22.37:g.24086056G>A		False	False		Somatic	0					p.C424C	NM_021916.2	NP_068735.1	WXS	Illumina HiSeq	Phase_I	Q9UC06	ZNF70_HUMAN			2	1732	-			424						Silent	SNP	ENST00000341976.3	37	c.1272C>T	CCDS13812.1																																																																																				0.547	ZNF70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319881.1	0	NM_021916		22:24086056
LRP6	4040	broad.mit.edu	37	12	12300383	12300383	+	Missense_Mutation	SNP	A	A	G			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:12300383A>G	ENST00000261349.4	-	15	3390	c.3314T>C	c.(3313-3315)aTt>aCt	p.I1105T	LRP6_ENST00000543091.1_Missense_Mutation_p.I1105T	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1105	Beta-propeller 4.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				GGCTAAAGCAATTGGTTTACT	0.453																																						ENST00000261349.4		NA																	0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85						c.(3313-3315)aTt>aCt		low density lipoprotein receptor-related protein 6							125.0	127.0	126.0					12																	12300383		2203	4300	6503	SO:0001583	missense	4040				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	g.chr12:12300383A>G	AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"""Low density lipoprotein receptors"""	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.3314T>C	12.37:g.12300383A>G	ENSP00000261349:p.Ile1105Thr	False	False		Somatic	0				LRP6_ENST00000543091.1_Missense_Mutation_p.I1105T	p.I1105T	NM_002336.2	NP_002327.2	WXS	Illumina HiSeq	Phase_I	O75581	LRP6_HUMAN			15	3390	-		Prostate(47;0.0865)	1105			Beta-propeller 4.		Q17RZ2	Missense_Mutation	SNP	ENST00000261349.4	37	c.3314T>C	CCDS8647.1	.	.	.	.	.	.	.	.	.	.	A	7.457	0.643887	0.14451	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.95588	-3.75;-3.75	5.69	5.69	0.88448	Six-bladed beta-propeller, TolB-like (1);	0.519638	0.17309	U	0.178962	D	0.84338	0.5450	N	0.00569	-1.365	0.50171	D	0.999857	B;B	0.15141	0.007;0.012	B;B	0.23419	0.046;0.036	T	0.81077	-0.1096	10	0.11182	T	0.66	.	15.9477	0.79806	1.0:0.0:0.0:0.0	.	1105;1105	F5H7J9;O75581	.;LRP6_HUMAN	T	1105	ENSP00000261349:I1105T;ENSP00000442472:I1105T	ENSP00000261349:I1105T	I	-	2	0	LRP6	12191650	0.964000	0.33143	0.960000	0.40013	0.960000	0.62799	8.962000	0.93254	2.179000	0.69175	0.460000	0.39030	ATT		0.453	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1	0			12:12300383
NLRP9	338321	broad.mit.edu	37	19	56243922	56243922	+	Silent	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:56243922G>A	ENST00000332836.2	-	2	1302	c.1275C>T	c.(1273-1275)ggC>ggT	p.G425G		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	425	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.		G -> D (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.			cytoplasm (GO:0005737)	ATP binding (GO:0005524)			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		CCCACATCACGCCCTCAGACT	0.473																																						ENST00000332836.2		NA																	0				NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74						c.(1273-1275)ggC>ggT		NLR family, pyrin domain containing 9							98.0	99.0	99.0					19																	56243922		2203	4300	6503	SO:0001819	synonymous_variant	338321					cytoplasm	ATP binding	g.chr19:56243922G>A	AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22941	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"""	609663	"""NACHT, leucine rich repeat and PYD containing 9"""	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.1275C>T	19.37:g.56243922G>A		True	False		Somatic	0					p.G425G	NM_176820.2	NP_789790.2	WXS	Illumina HiSeq	Phase_I	Q7RTR0	NALP9_HUMAN		GBM - Glioblastoma multiforme(193;0.123)	2	1302	-		Colorectal(82;0.000133)|Ovarian(87;0.133)	425		G -> D (in a breast cancer sample; somatic mutation).	NACHT.		B2RN12|Q86W27	Silent	SNP	ENST00000332836.2	37	c.1275C>T	CCDS12934.1																																																																																				0.473	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453653.1	0	NM_176820		19:56243922
CAND2	23066	broad.mit.edu	37	3	12858310	12858310	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:12858310C>T	ENST00000456430.2	+	10	1920	c.1879C>T	c.(1879-1881)Cgg>Tgg	p.R627W	CAND2_ENST00000295989.5_Missense_Mutation_p.R534W	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	627					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)		p.R534W(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						TGAGATCACCCGGCTGCCCGC	0.632																																					GBM(43;676 868 1633 6395 37496)	ENST00000456430.2		NA																	1	Substitution - Missense(1)	p.R534W(1)	large_intestine(1)	breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(1879-1881)Cgg>Tgg		cullin-associated and neddylation-dissociated 2 (putative)							67.0	76.0	73.0					3																	12858310		2100	4217	6317	SO:0001583	missense	23066				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr3:12858310C>T		CCDS43053.1, CCDS54554.1	3p25.2	2008-02-05			ENSG00000144712	ENSG00000144712			30689	protein-coding gene	gene with protein product	"""TBP interacting protein"""	610403				9734811, 10441524	Standard	NM_012298		Approved	TIP120B, KIAA0667, Tp120b	uc003bxk.2	O75155	OTTHUMG00000155397	ENST00000456430.2:c.1879C>T	3.37:g.12858310C>T	ENSP00000387641:p.Arg627Trp	True	False		Somatic	0				CAND2_ENST00000295989.5_Missense_Mutation_p.R534W	p.R627W	NM_001162499.1	NP_001155971.1	WXS	Illumina HiSeq	Phase_I	O75155	CAND2_HUMAN			10	1920	+			627					B9EGM9|E9KL24	Missense_Mutation	SNP	ENST00000456430.2	37	c.1879C>T	CCDS54554.1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.386485	0.61956	.	.	ENSG00000144712	ENST00000295989;ENST00000456430	T;T	0.71341	-0.56;-0.56	4.82	4.82	0.62117	Armadillo-like helical (1);Armadillo-type fold (1);	0.068282	0.56097	D	0.000033	D	0.87884	0.6290	M	0.93550	3.43	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.995	D	0.91089	0.4905	10	0.87932	D	0	-35.2501	15.7833	0.78281	0.0:1.0:0.0:0.0	.	627;534	O75155;O75155-2	CAND2_HUMAN;.	W	534;627	ENSP00000295989:R534W;ENSP00000387641:R627W	ENSP00000295989:R534W	R	+	1	2	CAND2	12833310	0.317000	0.24589	1.000000	0.80357	0.837000	0.47467	0.913000	0.28611	2.395000	0.81488	0.561000	0.74099	CGG		0.632	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339856.4	0	XM_371617		3:12858310
NTF3	4908	broad.mit.edu	37	12	5603958	5603958	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:5603958C>T	ENST00000331010.6	+	1	661	c.578C>T	c.(577-579)aCg>aTg	p.T193M	NTF3_ENST00000423158.3_Missense_Mutation_p.T206M|NTF3_ENST00000535299.1_Intron	NM_002527.4	NP_002518.1	P20783	NTF3_HUMAN	neurotrophin 3	193					activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell-cell signaling (GO:0007267)|enteric nervous system development (GO:0048484)|epidermis development (GO:0008544)|glial cell fate determination (GO:0007403)|induction of positive chemotaxis (GO:0050930)|mechanoreceptor differentiation (GO:0042490)|myelination (GO:0042552)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|nerve development (GO:0021675)|nervous system development (GO:0007399)|neuromuscular synaptic transmission (GO:0007274)|peripheral nervous system development (GO:0007422)|positive chemotaxis (GO:0050918)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of glial cell differentiation (GO:0045687)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of synaptic transmission (GO:0050804)|signal transduction (GO:0007165)|smooth muscle cell differentiation (GO:0051145)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular region (GO:0005576)	chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|receptor binding (GO:0005102)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						TTTTATGAAACGCGATGTAAG	0.507																																					GBM(194;1104 2182 8339 9578 18493)	ENST00000423158.3		NA																	0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						c.(616-618)aCg>aTg		neurotrophin 3							55.0	55.0	55.0					12																	5603958		2203	4300	6503	SO:0001583	missense	4908				signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding	g.chr12:5603958C>T		CCDS8538.1, CCDS44806.1	12p13	2014-01-30			ENSG00000185652	ENSG00000185652		"""Endogenous ligands"""	8023	protein-coding gene	gene with protein product		162660				1889806	Standard	NM_002527		Approved	NGF2	uc001qnk.4	P20783	OTTHUMG00000168649	ENST00000331010.6:c.578C>T	12.37:g.5603958C>T	ENSP00000328738:p.Thr193Met	True	False		Somatic	0				NTF3_ENST00000331010.6_Missense_Mutation_p.T193M|NTF3_ENST00000535299.1_Intron	p.T206M	NM_001102654.1	NP_001096124.1	WXS	Illumina HiSeq	Phase_I	P20783	NTF3_HUMAN			2	829	+			193					B7Z1T5|Q6FH50	Missense_Mutation	SNP	ENST00000331010.6	37	c.617C>T	CCDS8538.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.155349	0.78114	.	.	ENSG00000185652	ENST00000423158;ENST00000331010	T;T	0.73681	-0.77;-0.77	5.45	5.45	0.79879	Nerve growth factor-related (5);	0.000000	0.85682	D	0.000000	D	0.87665	0.6234	M	0.84326	2.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.89132	0.3510	10	0.87932	D	0	-33.1613	18.2818	0.90101	0.0:1.0:0.0:0.0	.	193;206	P20783;B7Z1T5	NTF3_HUMAN;.	M	206;193	ENSP00000397297:T206M;ENSP00000328738:T193M	ENSP00000328738:T193M	T	+	2	0	NTF3	5474219	1.000000	0.71417	0.997000	0.53966	0.980000	0.70556	7.818000	0.86416	2.583000	0.87209	0.650000	0.86243	ACG		0.507	NTF3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400486.1	0			12:5603958
NIPA2	81614	broad.mit.edu	37	15	23006789	23006789	+	Missense_Mutation	SNP	C	C	T	rs201271184		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr15:23006789C>T	ENST00000337451.3	-	8	1127	c.515G>A	c.(514-516)cGc>cAc	p.R172H	NIPA2_ENST00000539711.2_Missense_Mutation_p.R153H|NIPA2_ENST00000359727.4_Missense_Mutation_p.R153H|NIPA2_ENST00000398013.3_Missense_Mutation_p.R172H|NIPA2_ENST00000398014.2_Missense_Mutation_p.R172H	NM_030922.6	NP_112184.4	Q8N8Q9	NIPA2_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 2	172						early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)		CTGTCCATGGCGAGGACCCAC	0.468																																						ENST00000337451.3		NA																	0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1)	15						c.(514-516)cGc>cAc		non imprinted in Prader-Willi/Angelman syndrome 2							71.0	63.0	66.0					15																	23006789		2203	4300	6503	SO:0001583	missense	81614					early endosome|integral to membrane|plasma membrane		g.chr15:23006789C>T	AY732242	CCDS73693.1, CCDS73694.1	15q11.2	2008-02-05			ENSG00000140157	ENSG00000140157			17044	protein-coding gene	gene with protein product		608146				14508708	Standard	NM_001008860		Approved		uc001yuz.3	Q8N8Q9	OTTHUMG00000129101	ENST00000337451.3:c.515G>A	15.37:g.23006789C>T	ENSP00000337618:p.Arg172His	False	False		Somatic	0				NIPA2_ENST00000398014.2_Missense_Mutation_p.R172H|NIPA2_ENST00000539711.2_Missense_Mutation_p.R153H|NIPA2_ENST00000359727.4_Missense_Mutation_p.R153H|NIPA2_ENST00000398013.3_Missense_Mutation_p.R172H	p.R172H	NM_030922.6	NP_112184.4	WXS	Illumina HiSeq	Phase_I	Q8N8Q9	NIPA2_HUMAN		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)	8	1127	-		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	172					F8W7Y8|Q96F03|Q9BVS2	Missense_Mutation	SNP	ENST00000337451.3	37	c.515G>A	CCDS10010.1	.	.	.	.	.	.	.	.	.	.	C	16.35	3.097751	0.56075	.	.	ENSG00000140157	ENST00000337451;ENST00000398014;ENST00000359727;ENST00000539711;ENST00000398013	D;D;D	0.91740	-2.9;-2.9;-2.9	5.65	3.79	0.43588	.	0.047323	0.85682	D	0.000000	D	0.91646	0.7360	M	0.81614	2.55	0.80722	D	1	P;P	0.38020	0.615;0.562	B;B	0.37888	0.17;0.26	D	0.90560	0.4515	10	0.59425	D	0.04	-18.3833	12.5884	0.56430	0.0:0.8679:0.0:0.1321	.	153;172	F8W7Y8;Q8N8Q9	.;NIPA2_HUMAN	H	172;172;153;172;153	ENSP00000337618:R172H;ENSP00000381096:R172H;ENSP00000352762:R153H	ENSP00000337618:R172H	R	-	2	0	NIPA2	20558230	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	4.882000	0.63121	0.871000	0.35750	-0.768000	0.03414	CGC		0.468	NIPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251137.1	0	NM_030922		15:23006789
GRM8	2918	broad.mit.edu	37	7	126410092	126410092	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr7:126410092G>A	ENST00000339582.2	-	7	1992	c.1184C>T	c.(1183-1185)tCt>tTt	p.S395F	GRM8_ENST00000405249.1_Missense_Mutation_p.S395F|GRM8_ENST00000358373.3_Missense_Mutation_p.S395F|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Missense_Mutation_p.S395F			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	395					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				CTGTTCATAAGATGAATCCCG	0.388										HNSCC(24;0.065)																												ENST00000339582.2		NA																	0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125						c.(1183-1185)tCt>tTt		glutamate receptor, metabotropic 8	L-Glutamic Acid(DB00142)						80.0	70.0	73.0					7																	126410092		2203	4300	6503	SO:0001583	missense	0				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126410092G>A		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.1184C>T	7.37:g.126410092G>A	ENSP00000344173:p.Ser395Phe	False	False	HNSCC(24;0.065)	Somatic	0				GRM8_ENST00000444921.2_Missense_Mutation_p.S395F|GRM8_ENST00000358373.3_Missense_Mutation_p.S395F|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000405249.1_Missense_Mutation_p.S395F	p.S395F			WXS	Illumina HiSeq	Phase_I	O00222	GRM8_HUMAN			7	1992	-		Prostate(267;0.186)	395					A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	c.1184C>T	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	G	8.134	0.783695	0.16189	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373;ENST00000405249	D;D;D;D	0.86432	-2.12;-2.12;-2.12;-2.12	5.88	5.88	0.94601	Extracellular ligand-binding receptor (1);	0.247838	0.38217	N	0.001768	D	0.82848	0.5126	L	0.29908	0.895	0.44247	D	0.997094	B;B;B	0.29378	0.243;0.141;0.037	B;B;B	0.35114	0.196;0.054;0.043	T	0.80455	-0.1375	10	0.46703	T	0.11	.	14.7788	0.69749	0.0:0.1438:0.8562:0.0	.	395;395;395	O00222-3;O00222-2;O00222	.;.;GRM8_HUMAN	F	395	ENSP00000344173:S395F;ENSP00000409790:S395F;ENSP00000351142:S395F;ENSP00000385731:S395F	ENSP00000344173:S395F	S	-	2	0	GRM8	126197328	0.998000	0.40836	0.781000	0.31783	0.040000	0.13550	2.992000	0.49417	2.769000	0.95229	0.655000	0.94253	TCT		0.388	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4	0			7:126410092
CES3	23491	broad.mit.edu	37	16	67006386	67006386	+	Silent	SNP	C	C	T	rs201944889		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr16:67006386C>T	ENST00000303334.4	+	11	1490	c.1419C>T	c.(1417-1419)ctC>ctT	p.L473L	CES3_ENST00000543856.1_Silent_p.L112L|CES3_ENST00000394037.1_Silent_p.L473L	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	473						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	carboxylic ester hydrolase activity (GO:0052689)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		GTCCCTTCCTCATGGACGAGA	0.592																																						ENST00000303334.4		NA																	0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24						c.(1417-1419)ctC>ctT		carboxylesterase 3							129.0	126.0	127.0					16																	67006386		2200	4300	6500	SO:0001819	synonymous_variant	23491					endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:67006386C>T	AK025389	CCDS10826.1, CCDS54022.1, CCDS54023.1	16q22.1	2014-05-13	2008-07-25		ENSG00000172828	ENSG00000172828		"""Carboxylesterases"""	1865	protein-coding gene	gene with protein product	"""esterase 31"", ""brain carboxylesterase BR3"""	605279	"""carboxylesterase 3 (brain)"""			10518925, 14581373, 15100172, 20931200	Standard	NM_001185176		Approved	FLJ21736, ES31	uc002eqt.3	Q6UWW8	OTTHUMG00000137525	ENST00000303334.4:c.1419C>T	16.37:g.67006386C>T		False	False		Somatic	0				CES3_ENST00000394037.1_Silent_p.L473L|CES3_ENST00000543856.1_Silent_p.L112L	p.L473L	NM_024922.5	NP_079198.2	WXS	Illumina HiSeq	Phase_I	Q6UWW8	EST3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)	11	1490	+		Ovarian(137;0.0563)	473					B2Z3W9|F5H242|Q7Z6J1|Q9H6X7	Silent	SNP	ENST00000303334.4	37	c.1419C>T	CCDS10826.1																																																																																				0.592	CES3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268848.1	0	NM_024922		16:67006386
KDM1A	23028	broad.mit.edu	37	1	23376891	23376891	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:23376891G>A	ENST00000356634.3	+	3	678	c.529G>A	c.(529-531)Gca>Aca	p.A177T	KDM1A_ENST00000400181.4_Missense_Mutation_p.A197T|RP1-184J9.2_ENST00000427154.1_RNA|KDM1A_ENST00000542151.1_Missense_Mutation_p.A197T	NM_015013.3	NP_055828.2	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	177	SWIRM. {ECO:0000255|PROSITE- ProRule:PRU00247}.				blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|histone H3-K4 demethylation (GO:0034720)|histone H3-K9 demethylation (GO:0033169)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of DNA binding (GO:0043392)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of protein binding (GO:0032091)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pituitary gland development (GO:0021983)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein demethylation (GO:0006482)|regulation of primitive erythrocyte differentiation (GO:0010725)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|demethylase activity (GO:0032451)|enzyme binding (GO:0019899)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-K4 specific) (GO:0032453)|histone demethylase activity (H3-K9 specific) (GO:0032454)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|MRF binding (GO:0043426)|oxidoreductase activity (GO:0016491)|p53 binding (GO:0002039)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TGTGGAGGGCGCAGCTTTCCA	0.468																																						ENST00000400181.4		NA																	0				breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(589-591)Gca>Aca		lysine (K)-specific demethylase 1A							120.0	111.0	114.0					1																	23376891		2203	4300	6503	SO:0001583	missense	23028				blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding	g.chr1:23376891G>A	AL031428	CCDS30627.1, CCDS53278.1	1p36.12	2011-07-01	2009-09-29	2009-09-29	ENSG00000004487	ENSG00000004487		"""Chromatin-modifying enzymes / K-demethylases"""	29079	protein-coding gene	gene with protein product		609132	"""amine oxidase (flavin containing) domain 2"", ""lysine (K)-specific demethylase 1"""	AOF2, KDM1		9628581, 12493763	Standard	NM_015013		Approved	KIAA0601, BHC110, LSD1	uc001bgj.2	O60341	OTTHUMG00000003220	ENST00000356634.3:c.529G>A	1.37:g.23376891G>A	ENSP00000349049:p.Ala177Thr	False	False		Somatic	0				KDM1A_ENST00000542151.1_Missense_Mutation_p.A197T|KDM1A_ENST00000356634.3_Missense_Mutation_p.A177T|RP1-184J9.2_ENST00000427154.1_RNA	p.A197T	NM_001009999.2	NP_001009999.1	WXS	Illumina HiSeq	Phase_I	O60341	KDM1A_HUMAN			4	693	+			177			SWIRM.		A8MWP9|Q5TH94|Q5TH95|Q86VT7|Q8IXK4|Q8NDP6|Q8TAZ3|Q96AW4	Missense_Mutation	SNP	ENST00000356634.3	37	c.589G>A	CCDS30627.1	.	.	.	.	.	.	.	.	.	.	G	36	5.755977	0.96898	.	.	ENSG00000004487	ENST00000356634;ENST00000400181;ENST00000542151	T;T;T	0.49139	1.16;0.79;0.8	5.73	5.73	0.89815	Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);SWIRM (2);	0.000000	0.85682	D	0.000000	T	0.73148	0.3550	M	0.82323	2.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.75522	-0.3288	10	0.72032	D	0.01	-23.8292	19.2577	0.93952	0.0:0.0:1.0:0.0	.	197;177	O60341-2;O60341	.;KDM1A_HUMAN	T	177;197;197	ENSP00000349049:A177T;ENSP00000383042:A197T;ENSP00000439072:A197T	ENSP00000349049:A177T	A	+	1	0	KDM1A	23249478	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.816000	0.99350	2.854000	0.98071	0.655000	0.94253	GCA		0.468	KDM1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008880.3	0	NM_015013		1:23376891
SIPA1L1	26037	broad.mit.edu	37	14	72055191	72055191	+	Nonsense_Mutation	SNP	C	C	G	rs572294354		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr14:72055191C>G	ENST00000555818.1	+	2	950	c.602C>G	c.(601-603)tCa>tGa	p.S201*	SIPA1L1_ENST00000381232.3_Nonsense_Mutation_p.S201*|SIPA1L1_ENST00000358550.2_Nonsense_Mutation_p.S201*	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	201					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		ACTGGACCATCACTGCACAGG	0.403																																						ENST00000555818.1		NA																	0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78						c.(601-603)tCa>tGa		signal-induced proliferation-associated 1 like 1							164.0	142.0	150.0					14																	72055191		2203	4300	6503	SO:0001587	stop_gained	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72055191C>G	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.602C>G	14.37:g.72055191C>G	ENSP00000450832:p.Ser201*	False	False		Somatic	0				SIPA1L1_ENST00000358550.2_Nonsense_Mutation_p.S201*|SIPA1L1_ENST00000381232.3_Nonsense_Mutation_p.S201*	p.S201*	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	WXS	Illumina HiSeq	Phase_I	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	2	950	+			201					J3KP19|O95321|Q9UDU4|Q9UNU4	Nonsense_Mutation	SNP	ENST00000555818.1	37	c.602C>G	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	C	41	8.716085	0.98927	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550	.	.	.	5.72	5.72	0.89469	.	0.053658	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-13.2469	19.8891	0.96923	0.0:1.0:0.0:0.0	.	.	.	.	X	201	.	ENSP00000351352:S201X	S	+	2	0	SIPA1L1	71124944	1.000000	0.71417	0.209000	0.23619	0.175000	0.22909	5.968000	0.70413	2.689000	0.91719	0.655000	0.94253	TCA		0.403	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	0	NM_015556		14:72055191
SDK1	221935	broad.mit.edu	37	7	4089014	4089014	+	Silent	SNP	A	A	G			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr7:4089014A>G	ENST00000404826.2	+	18	2776	c.2637A>G	c.(2635-2637)gaA>gaG	p.E879E	SDK1_ENST00000389531.3_Silent_p.E879E	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	879	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TGCAGACGGAAGCCGTGAACT	0.582																																						ENST00000404826.2		NA																	0				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(2635-2637)gaA>gaG		sidekick cell adhesion molecule 1							87.0	75.0	79.0					7																	4089014		2203	4300	6503	SO:0001819	synonymous_variant	221935				cell adhesion	integral to membrane		g.chr7:4089014A>G	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.2637A>G	7.37:g.4089014A>G		False	False		Somatic	0				SDK1_ENST00000389531.3_Silent_p.E879E	p.E879E	NM_152744.3	NP_689957.3	WXS	Illumina HiSeq	Phase_I	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	18	2776	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	879			Fibronectin type-III 3.		Q8TEN9|Q8TEP5|Q96N44	Silent	SNP	ENST00000404826.2	37	c.2637A>G	CCDS34590.1																																																																																				0.582	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	0	NM_152744		7:4089014
NCAPH	23397	broad.mit.edu	37	2	97007560	97007560	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr2:97007560G>A	ENST00000240423.4	+	2	243	c.200G>A	c.(199-201)cGg>cAg	p.R67Q	NCAPH_ENST00000427946.1_Intron|NCAPH_ENST00000455200.1_Missense_Mutation_p.R56Q	NM_001281710.1|NM_001281711.1|NM_015341.3	NP_001268639.1|NP_001268640.1|NP_056156.2	Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	67					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				CGGCTGCAGCGGAGGCGCTCG	0.592																																						ENST00000455200.1		NA																	0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(166-168)cGg>cAg		non-SMC condensin I complex, subunit H							75.0	82.0	79.0					2																	97007560		2203	4300	6503	SO:0001583	missense	23397				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus		g.chr2:97007560G>A	BC024211	CCDS2021.1, CCDS62960.1	2q11.2	2008-02-05	2006-09-04	2006-09-04	ENSG00000121152	ENSG00000121152			1112	protein-coding gene	gene with protein product		602332	"""barren (Drosophila) homolog"", ""barren homolog (Drosophila)"", ""barren homolog 1 (Drosophila)"""	BRRN1		9417923	Standard	NM_015341		Approved	CAP-H, hCAP-H	uc002svz.1	Q15003	OTTHUMG00000130451	ENST00000240423.4:c.200G>A	2.37:g.97007560G>A	ENSP00000240423:p.Arg67Gln	False	False		Somatic	0				NCAPH_ENST00000427946.1_Intron|NCAPH_ENST00000240423.4_Missense_Mutation_p.R67Q	p.R56Q			WXS	Illumina HiSeq	Phase_I	Q15003	CND2_HUMAN			2	462	+		Ovarian(717;0.0221)	67					B4E189|Q8TB87	Missense_Mutation	SNP	ENST00000240423.4	37	c.167G>A	CCDS2021.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.639751	0.87760	.	.	ENSG00000121152	ENST00000240423;ENST00000435975;ENST00000456906;ENST00000455200	T;T;T;T	0.56275	0.47;0.47;0.47;0.47	5.66	4.78	0.61160	.	0.106857	0.64402	N	0.000006	T	0.71467	0.3343	M	0.80183	2.485	0.48975	D	0.999732	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.74595	-0.3613	10	0.66056	D	0.02	-21.3725	10.5775	0.45235	0.0891:0.0:0.9109:0.0	.	43;56;56;67	B4DRG7;E9PHA2;C9J470;Q15003	.;.;.;CND2_HUMAN	Q	67;56;67;56	ENSP00000240423:R67Q;ENSP00000405237:R56Q;ENSP00000401227:R67Q;ENSP00000407308:R56Q	ENSP00000240423:R67Q	R	+	2	0	NCAPH	96371287	1.000000	0.71417	1.000000	0.80357	0.553000	0.35397	8.515000	0.90548	1.400000	0.46741	0.650000	0.86243	CGG		0.592	NCAPH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252842.2	0	NM_015341		2:97007560
HOXC11	3227	broad.mit.edu	37	12	54367152	54367152	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:54367152G>A	ENST00000546378.1	+	1	243	c.127G>A	c.(127-129)Gag>Aag	p.E43K	HOXC11_ENST00000243082.4_Missense_Mutation_p.E43K|HOTAIR_ENST00000455246.1_RNA|HOTAIR_ENST00000424518.1_RNA			O43248	HXC11_HUMAN	homeobox C11	43					anterior/posterior pattern specification (GO:0009952)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal joint morphogenesis (GO:0060272)|endoderm development (GO:0007492)|metanephros development (GO:0001656)|organ induction (GO:0001759)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	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 positive regulation of transcription (GO:0001077)			large_intestine(1)|ovary(1)	2						CTACATGCCCGAGTTCTCCAC	0.642			T	NUP98	AML																																	ENST00000546378.1		NA		Dom	yes		12	12q13.3	3227	T	homeo box C11			L	NUP98		AML		0				large_intestine(1)|ovary(1)	2						c.(127-129)Gag>Aag		homeobox C11							114.0	119.0	117.0					12																	54367152		2203	4300	6503	SO:0001583	missense	3227				endoderm development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54367152G>A		CCDS8867.1	12q13.13	2011-06-20	2005-12-22		ENSG00000123388	ENSG00000123388		"""Homeoboxes / ANTP class : HOXL subclass"""	5123	protein-coding gene	gene with protein product		605559	"""homeo box C11"""	HOX3H		1973146, 1358459	Standard	NM_014212		Approved		uc001sem.3	O43248	OTTHUMG00000160011	ENST00000546378.1:c.127G>A	12.37:g.54367152G>A	ENSP00000446680:p.Glu43Lys	True	False		Somatic	0				HOTAIR_ENST00000455246.1_RNA|HOTAIR_ENST00000424518.1_RNA|HOXC11_ENST00000243082.4_Missense_Mutation_p.E43K	p.E43K			WXS	Illumina HiSeq	Phase_I	O43248	HXC11_HUMAN			1	243	+			43					A8K7D1|Q96DH2	Missense_Mutation	SNP	ENST00000546378.1	37	c.127G>A	CCDS8867.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.433131	0.83776	.	.	ENSG00000123388	ENST00000546378;ENST00000243082	T;T	0.49432	0.78;0.78	4.47	4.47	0.54385	Domain of unknown function DUF3528, homeobox protein, eukaryotic (1);	0.052375	0.85682	D	0.000000	T	0.55955	0.1953	L	0.54323	1.7	0.58432	D	0.999998	P	0.51791	0.948	P	0.51999	0.687	T	0.61569	-0.7036	10	0.72032	D	0.01	.	16.4268	0.83817	0.0:0.0:1.0:0.0	.	43	O43248	HXC11_HUMAN	K	43	ENSP00000446680:E43K;ENSP00000243082:E43K	ENSP00000243082:E43K	E	+	1	0	HOXC11	52653419	1.000000	0.71417	0.999000	0.59377	0.948000	0.59901	9.227000	0.95236	2.471000	0.83476	0.561000	0.74099	GAG		0.642	HOXC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358869.2	0			12:54367152
UBR4	23352	broad.mit.edu	37	1	19420503	19420503	+	Missense_Mutation	SNP	C	C	G			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:19420503C>G	ENST00000375254.3	-	95	13904	c.13877G>C	c.(13876-13878)gGa>gCa	p.G4626A	UBR4_ENST00000543981.1_Missense_Mutation_p.G290A|UBR4_ENST00000375217.2_Missense_Mutation_p.G4619A|UBR4_ENST00000429347.2_Missense_Mutation_p.G149A|UBR4_ENST00000467272.2_5'UTR|UBR4_ENST00000375226.2_Missense_Mutation_p.G4602A|UBR4_ENST00000375267.2_Missense_Mutation_p.G4626A|UBR4_ENST00000375224.1_Missense_Mutation_p.G333A	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	4626					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CTCCACCTCTCCAAAGGAAAG	0.468																																						ENST00000375267.2		NA																	0				breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.(13876-13878)gGa>gCa		ubiquitin protein ligase E3 component n-recognin 4							94.0	85.0	88.0					1																	19420503		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19420503C>G	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.13877G>C	1.37:g.19420503C>G	ENSP00000364403:p.Gly4626Ala	False	False		Somatic	0				UBR4_ENST00000543981.1_Missense_Mutation_p.G290A|UBR4_ENST00000429347.2_Missense_Mutation_p.G149A|UBR4_ENST00000375217.2_Missense_Mutation_p.G4619A|UBR4_ENST00000467272.2_5'UTR|UBR4_ENST00000375224.1_Missense_Mutation_p.G333A|UBR4_ENST00000375226.2_Missense_Mutation_p.G4602A|UBR4_ENST00000375254.3_Missense_Mutation_p.G4626A	p.G4626A			WXS	Illumina HiSeq	Phase_I	Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	95	13880	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	4626					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.13877G>C	CCDS189.1	.	.	.	.	.	.	.	.	.	.	C	32	5.134565	0.94517	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000375224;ENST00000429347;ENST00000543981	T;T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91;0.91	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.71896	0.3394	M	0.88450	2.955	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.85130	0.995;0.995;0.997;0.992	T	0.76146	-0.3066	10	0.72032	D	0.01	.	18.7785	0.91922	0.0:1.0:0.0:0.0	.	290;149;4626;4602	B4DYV5;B4DPF6;Q5T4S7;Q5T4S7-3	.;.;UBR4_HUMAN;.	A	4626;4626;4619;4602;333;149;290	ENSP00000364403:G4626A;ENSP00000364416:G4626A;ENSP00000364365:G4619A;ENSP00000364374:G4602A;ENSP00000364372:G333A;ENSP00000394173:G149A;ENSP00000444070:G290A	ENSP00000364365:G4619A	G	-	2	0	UBR4	19293090	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.278000	0.78587	2.785000	0.95823	0.591000	0.81541	GGA		0.468	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	0	NM_020765		1:19420503
ELMOD1	55531	broad.mit.edu	37	11	107506439	107506439	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr11:107506439G>A	ENST00000265840.7	+	6	633	c.368G>A	c.(367-369)cGt>cAt	p.R123H	ELMOD1_ENST00000531234.1_Missense_Mutation_p.R117H|ELMOD1_ENST00000443271.2_Missense_Mutation_p.R123H	NM_018712.3	NP_061182.3	Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1	123					phagocytosis (GO:0006909)|positive regulation of GTPase activity (GO:0043547)	cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)			endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		GAAAAACTGCGTAGAGAGGCC	0.433																																						ENST00000265840.7		NA																	0				endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19						c.(367-369)cGt>cAt		ELMO/CED-12 domain containing 1							154.0	144.0	147.0					11																	107506439		1887	4121	6008	SO:0001583	missense	55531				phagocytosis	cytoskeleton	GTPase activator activity	g.chr11:107506439G>A	AL359601	CCDS44723.1, CCDS44724.1	11q23.1	2012-10-15	2006-01-20		ENSG00000110675	ENSG00000110675			25334	protein-coding gene	gene with protein product		615456	"""ELMO domain containing 1"""			12477932	Standard	NM_018712		Approved	DKFZp547C176	uc010rvs.2	Q8N336	OTTHUMG00000166361	ENST00000265840.7:c.368G>A	11.37:g.107506439G>A	ENSP00000265840:p.Arg123His	False	False		Somatic	0				ELMOD1_ENST00000531234.1_Missense_Mutation_p.R117H|ELMOD1_ENST00000443271.2_Missense_Mutation_p.R123H	p.R123H	NM_018712.3	NP_061182.3	WXS	Illumina HiSeq	Phase_I	Q8N336	ELMD1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)	6	633	+		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)	123					B4E167|G5E9S5|Q9NPW3	Missense_Mutation	SNP	ENST00000265840.7	37	c.368G>A	CCDS44723.1	.	.	.	.	.	.	.	.	.	.	G	34	5.318541	0.95682	.	.	ENSG00000110675	ENST00000531234;ENST00000265840;ENST00000443271	T;T;T	0.33865	1.39;1.39;1.39	5.57	5.57	0.84162	Engulfment/cell motility, ELMO (1);	0.000000	0.85682	D	0.000000	T	0.65154	0.2664	M	0.81614	2.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.993	T	0.66337	-0.5949	10	0.56958	D	0.05	.	19.918	0.97070	0.0:0.0:1.0:0.0	.	123;123	Q8N336;G5E9S5	ELMD1_HUMAN;.	H	117;123;123	ENSP00000433232:R117H;ENSP00000265840:R123H;ENSP00000412257:R123H	ENSP00000265840:R123H	R	+	2	0	ELMOD1	107011649	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.989000	0.93506	2.785000	0.95823	0.591000	0.81541	CGT		0.433	ELMOD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389406.1	0	NM_018712		11:107506439
TTN	7273	broad.mit.edu	37	2	179412983	179412983	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr2:179412983C>T	ENST00000591111.1	-	289	88671	c.88447G>A	c.(88447-88449)Gat>Aat	p.D29483N	TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D22251N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D31124N|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D28556N|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D22184N|TTN_ENST00000460472.2_Missense_Mutation_p.D22059N|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin	29483	Fibronectin type-III 115. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGCTAGTATCAACAACATCA	0.483																																						ENST00000589042.1		NA																	0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(93370-93372)Gat>Aat		titin							166.0	165.0	165.0					2																	179412983		2042	4196	6238	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179412983C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.88447G>A	2.37:g.179412983C>T	ENSP00000465570:p.Asp29483Asn	False	False		Somatic	0				TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D28556N|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D22184N|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D22251N|TTN_ENST00000591111.1_Missense_Mutation_p.D29483N|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D22059N|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA	p.D31124N	NM_001267550.1	NP_001254479.1	WXS	Illumina HiSeq	Phase_I	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		339	93594	-			29483		A -> G.	Ig-like 139.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.93370G>A		.	.	.	.	.	.	.	.	.	.	C	19.66	3.869050	0.72065	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56776	0.44;0.44;0.44;0.44	5.65	5.65	0.86999	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.69860	0.3158	L	0.50919	1.6	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.71144	-0.4678	9	0.87932	D	0	.	19.7272	0.96168	0.0:1.0:0.0:0.0	.	22059;22184;22251;29483	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	28556;22059;22251;22184;22056	ENSP00000343764:D28556N;ENSP00000434586:D22059N;ENSP00000340554:D22251N;ENSP00000352154:D22184N	ENSP00000340554:D22251N	D	-	1	0	TTN	179121229	1.000000	0.71417	0.980000	0.43619	0.745000	0.42441	7.818000	0.86416	2.646000	0.89796	0.655000	0.94253	GAT		0.483	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	0	NM_133378		2:179412983
CACNA1E	777	broad.mit.edu	37	1	181724500	181724500	+	Missense_Mutation	SNP	C	C	G			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:181724500C>G	ENST00000367573.2	+	28	3956	c.3956C>G	c.(3955-3957)aCg>aGg	p.T1319R	CACNA1E_ENST00000358338.5_Missense_Mutation_p.T1251R|CACNA1E_ENST00000360108.3_Missense_Mutation_p.T1300R|CACNA1E_ENST00000357570.5_Missense_Mutation_p.T1270R|CACNA1E_ENST00000367567.4_Missense_Mutation_p.T926R|CACNA1E_ENST00000367570.1_Missense_Mutation_p.T1319R|CACNA1E_ENST00000526775.1_Missense_Mutation_p.T1300R	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1319					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TTTTATTGCACGGACAGTTCC	0.453																																						ENST00000526775.1		NA																	0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(3898-3900)aCg>aGg		calcium channel, voltage-dependent, R type, alpha 1E subunit							234.0	228.0	230.0					1																	181724500		2095	4231	6326	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181724500C>G	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.3956C>G	1.37:g.181724500C>G	ENSP00000356545:p.Thr1319Arg	False	False		Somatic	0				CACNA1E_ENST00000358338.5_Missense_Mutation_p.T1251R|CACNA1E_ENST00000357570.5_Missense_Mutation_p.T1270R|CACNA1E_ENST00000367567.4_Missense_Mutation_p.T926R|CACNA1E_ENST00000360108.3_Missense_Mutation_p.T1300R|CACNA1E_ENST00000367570.1_Missense_Mutation_p.T1319R|CACNA1E_ENST00000367573.2_Missense_Mutation_p.T1319R	p.T1300R	NM_001205294.1	NP_001192223.1	WXS	Illumina HiSeq	Phase_I	Q15878	CAC1E_HUMAN			27	4064	+			1319					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.3899C>G	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.707504	0.89018	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.98474	-4.95;-4.95;-4.95;-4.95;-4.95;-4.95;-4.95	5.29	5.29	0.74685	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98893	0.9625	M	0.78637	2.42	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.998;0.982;0.998	D	0.99882	1.1115	10	0.87932	D	0	.	18.524	0.90965	0.0:1.0:0.0:0.0	.	1300;1319;1319	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	R	1319;1300;1270;1251;926;1300;1319	ENSP00000356542:T1319R;ENSP00000434814:T1300R;ENSP00000350183:T1270R;ENSP00000351101:T1251R;ENSP00000356539:T926R;ENSP00000353222:T1300R;ENSP00000356545:T1319R	ENSP00000350183:T1270R	T	+	2	0	CACNA1E	179991123	1.000000	0.71417	0.934000	0.37439	0.977000	0.68977	7.676000	0.84012	2.468000	0.83385	0.650000	0.86243	ACG		0.453	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	0	NM_000721		1:181724500
FGF7	2252	broad.mit.edu	37	15	49776572	49776572	+	Silent	SNP	A	A	C			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr15:49776572A>C	ENST00000267843.4	+	4	1067	c.456A>C	c.(454-456)gcA>gcC	p.A152A	FAM227B_ENST00000299338.6_Intron|FGF7_ENST00000560704.1_3'UTR|FAM227B_ENST00000561064.1_Intron	NM_002009.3	NP_002000.1	P21781	FGF7_HUMAN	fibroblast growth factor 7	152					actin cytoskeleton reorganization (GO:0031532)|branching involved in salivary gland morphogenesis (GO:0060445)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis development (GO:0008544)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle morphogenesis (GO:0031069)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|mesenchymal cell proliferation (GO:0010463)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein localization to cell surface (GO:0034394)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|response to wounding (GO:0009611)|secretion by lung epithelial cell involved in lung growth (GO:0061033)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)	chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)	p.A152A(1)		kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		all_lung(180;0.00391)		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)		ACACATATGCATCAGCTAAAT	0.338																																						ENST00000267843.4		NA																	1	Substitution - coding silent(1)	p.A152A(1)	kidney(1)	kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						c.(454-456)gcA>gcC		fibroblast growth factor 7	Palifermin(DB00039)						55.0	53.0	54.0					15																	49776572		2037	3875	5912	SO:0001819	synonymous_variant	2252				actin cytoskeleton reorganization|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization at cell surface|secretion by lung epithelial cell involved in lung growth		chemoattractant activity|growth factor activity	g.chr15:49776572A>C	M60828	CCDS10131.1	15q21.2	2014-01-30	2010-08-18		ENSG00000140285	ENSG00000140285		"""Endogenous ligands"""	3685	protein-coding gene	gene with protein product	"""keratinocyte growth factor"""	148180	"""fibroblast growth factor 7 (keratinocyte growth factor)"""			7749227, 1409637	Standard	NM_002009		Approved	KGF	uc001zxn.3	P21781	OTTHUMG00000131517	ENST00000267843.4:c.456A>C	15.37:g.49776572A>C		False	False		Somatic	0				FAM227B_ENST00000561064.1_Intron|FAM227B_ENST00000299338.6_Intron|FGF7_ENST00000560704.1_3'UTR	p.A152A	NM_002009.3	NP_002000.1	WXS	Illumina HiSeq	Phase_I	P21781	FGF7_HUMAN		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)	4	1067	+		all_lung(180;0.00391)	152					H0YNY5|Q6FGV5|Q96FG5	Silent	SNP	ENST00000267843.4	37	c.456A>C	CCDS10131.1																																																																																				0.338	FGF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254374.3	0	NM_002009		15:49776572
PAXBP1	94104	broad.mit.edu	37	21	34132166	34132166	+	Missense_Mutation	SNP	T	T	C			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr21:34132166T>C	ENST00000331923.4	-	6	1304	c.1115A>G	c.(1114-1116)aAt>aGt	p.N372S	PAXBP1_ENST00000472588.1_5'UTR|PAXBP1_ENST00000290178.4_Missense_Mutation_p.N372S	NM_016631.3	NP_057715.2	Q9Y5B6	PAXB1_HUMAN	PAX3 and PAX7 binding protein 1	372					muscle organ development (GO:0007517)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of satellite cell proliferation (GO:0014842)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)										AGGGACTGTATTATCTGTTTT	0.398																																						ENST00000331923.4		NA																	0					NA						c.(1114-1116)aAt>aGt		PAX3 and PAX7 binding protein 1							186.0	185.0	186.0					21																	34132166		2203	4300	6503	SO:0001583	missense	94104							g.chr21:34132166T>C	AF231920	CCDS13619.1, CCDS33541.1	21q22.11	2014-01-23	2013-01-08	2013-01-08	ENSG00000159086	ENSG00000159086			13579	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 105"", ""GC-rich sequence DNA-binding factor candidate"""		"""chromosome 21 open reading frame 66"", ""GC-rich sequence DNA-binding factor 1"""	C21orf66, GCFC1		11707072, 22862948	Standard	NM_016631		Approved	GCFC, fSAP105	uc002yqn.3	Q9Y5B6	OTTHUMG00000064980	ENST00000331923.4:c.1115A>G	21.37:g.34132166T>C	ENSP00000328992:p.Asn372Ser	False	False		Somatic	0				PAXBP1_ENST00000472588.1_5'UTR|PAXBP1_ENST00000290178.4_Missense_Mutation_p.N372S	p.N372S	NM_016631.3	NP_057715.2	WXS	Illumina HiSeq	Phase_I					6	1304	-			NA					D3DSE7|Q96DU8|Q9NYQ0	Missense_Mutation	SNP	ENST00000331923.4	37	c.1115A>G	CCDS13619.1	.	.	.	.	.	.	.	.	.	.	T	14.09	2.431418	0.43122	.	.	ENSG00000159086	ENST00000331923;ENST00000290178	T;T	0.30981	1.94;1.51	5.8	5.8	0.92144	.	0.200313	0.53938	D	0.000047	T	0.34019	0.0883	L	0.29908	0.895	0.51012	D	0.999907	D;B	0.54601	0.967;0.336	P;B	0.55391	0.775;0.047	T	0.04255	-1.0965	10	0.08179	T	0.78	-33.6679	15.8075	0.78527	0.0:0.0:0.0:1.0	.	372;372	Q9Y5B6-2;Q9Y5B6	.;GCFC1_HUMAN	S	372	ENSP00000328992:N372S;ENSP00000290178:N372S	ENSP00000290178:N372S	N	-	2	0	GCFC1	33054037	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.975000	0.56859	2.216000	0.71823	0.460000	0.39030	AAT		0.398	PAXBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139563.1	0	NM_013329		21:34132166
CR1	1378	broad.mit.edu	37	1	207790017	207790017	+	Silent	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:207790017C>T	ENST00000367049.4	+	41	6759	c.6759C>T	c.(6757-6759)tgC>tgT	p.C2253C	CR1_ENST00000367051.1_Silent_p.C1803C|CR1_ENST00000400960.2_Silent_p.C1803C|CR1_ENST00000367052.1_Silent_p.C1803C|CR1_ENST00000367053.1_Silent_p.C1803C	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1803					complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CTTACGCATGCGACACCCACC	0.498																																						ENST00000367049.4		NA																	0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						c.(6757-6759)tgC>tgT		complement component (3b/4b) receptor 1 (Knops blood group)							142.0	137.0	139.0					1																	207790017		1924	4129	6053	SO:0001819	synonymous_variant	1378				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	g.chr1:207790017C>T	Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.6759C>T	1.37:g.207790017C>T		False	False		Somatic	0				CR1_ENST00000400960.2_Silent_p.C1803C|CR1_ENST00000367051.1_Silent_p.C1803C|CR1_ENST00000367052.1_Silent_p.C1803C|CR1_ENST00000367053.1_Silent_p.C1803C	p.C2253C	NM_000651.4	NP_000642.3	WXS	Illumina HiSeq	Phase_I	P17927	CR1_HUMAN			41	6759	+			1803					Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Silent	SNP	ENST00000367049.4	37	c.6759C>T	CCDS44308.1	.	.	.	.	.	.	.	.	.	.	C	0.030	-1.342195	0.01277	.	.	ENSG00000203710	ENST00000529814	.	.	.	4.15	-1.35	0.09114	.	.	.	.	.	T	0.31327	0.0793	.	.	.	0.20638	N	0.999873	.	.	.	.	.	.	T	0.33007	-0.9885	4	.	.	.	.	8.0389	0.30511	0.0:0.5164:0.0:0.4836	rs55775404	.	.	.	V	426	.	.	A	+	2	0	CR1	205856640	0.319000	0.24607	0.014000	0.15608	0.037000	0.13140	-0.190000	0.09615	-0.233000	0.09797	-0.320000	0.08662	GCG		0.498	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	0	NM_000573		1:207790017
TASP1	55617	broad.mit.edu	37	20	13514683	13514683	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr20:13514683C>T	ENST00000337743.4	-	9	901	c.781G>A	c.(781-783)Ggg>Agg	p.G261R	TASP1_ENST00000539805.1_Intron|TASP1_ENST00000480436.1_5'UTR	NM_017714.2	NP_060184.2	Q9H6P5	TASP1_HUMAN	taspase, threonine aspartase, 1	261					positive regulation of transcription, DNA-templated (GO:0045893)		threonine-type endopeptidase activity (GO:0004298)			NS(1)|breast(1)|endometrium(2)|large_intestine(11)|liver(1)|lung(11)|stomach(2)|urinary_tract(2)	31						CCAACTCTCCCCGGATGTTTC	0.463																																						ENST00000337743.4		NA																	0				NS(1)|breast(1)|endometrium(2)|large_intestine(11)|liver(1)|lung(11)|stomach(2)|urinary_tract(2)	31						c.(781-783)Ggg>Agg		taspase, threonine aspartase, 1							105.0	105.0	105.0					20																	13514683		2203	4300	6503	SO:0001583	missense	55617				asparagine catabolic process via L-aspartate|positive regulation of transcription, DNA-dependent|protein maturation		threonine-type endopeptidase activity	g.chr20:13514683C>T	AK000219	CCDS13116.1	20p12	2005-10-15	2005-10-15	2005-10-15	ENSG00000089123	ENSG00000089123	3.4.25.-		15859	protein-coding gene	gene with protein product		608270	"""chromosome 20 open reading frame 13"""	C20orf13		14636557	Standard	XR_430268		Approved	FLJ20212, dJ585I14.2	uc002woi.3	Q9H6P5	OTTHUMG00000031904	ENST00000337743.4:c.781G>A	20.37:g.13514683C>T	ENSP00000338624:p.Gly261Arg	True	False		Somatic	0				TASP1_ENST00000480436.1_5'UTR|TASP1_ENST00000539805.1_Intron	p.G261R	NM_017714.2	NP_060184.2	WXS	Illumina HiSeq	Phase_I	Q9H6P5	TASP1_HUMAN			9	901	-			261					B7Z690|B7Z963|Q5TDU9|Q9BQN0|Q9NQ08|Q9NTS6|Q9NXJ2	Missense_Mutation	SNP	ENST00000337743.4	37	c.781G>A	CCDS13116.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.976123	0.92982	.	.	ENSG00000089123	ENST00000378157;ENST00000337743;ENST00000455532	D;D	0.97529	-4.42;-4.42	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.99180	0.9716	H	0.97829	4.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98931	1.0787	10	0.87932	D	0	-9.528	19.3476	0.94372	0.0:1.0:0.0:0.0	.	261;238	Q9H6P5;Q5JWM4	TASP1_HUMAN;.	R	238;261;238	ENSP00000338624:G261R;ENSP00000400580:G238R	ENSP00000338624:G261R	G	-	1	0	TASP1	13462683	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.031000	0.76491	2.666000	0.90696	0.563000	0.77884	GGG		0.463	TASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078041.2	0	NM_017714		20:13514683
CDH4	1002	broad.mit.edu	37	20	60448850	60448850	+	Missense_Mutation	SNP	G	G	A	rs371856199		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr20:60448850G>A	ENST00000360469.5	+	7	1032	c.944G>A	c.(943-945)cGg>cAg	p.R315Q	CDH4_ENST00000543233.1_Missense_Mutation_p.R241Q	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	315	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GGGATGGTGCGGTACCGGATC	0.612																																						ENST00000360469.5		NA																	0				NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74						c.(943-945)cGg>cAg		cadherin 4, type 1, R-cadherin (retinal)		G	GLN/ARG	0,4406		0,0,2203	163.0	127.0	139.0		944	4.0	1.0	20		139	1,8599	1.2+/-3.3	0,1,4299	no	missense	CDH4	NM_001794.2	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	315/917	60448850	1,13005	2203	4300	6503	SO:0001583	missense	1002				adherens junction organization|cell junction assembly		calcium ion binding	g.chr20:60448850G>A	L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"""Cadherins / Major cadherins"""	1763	protein-coding gene	gene with protein product	"""R-Cadherin"""	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.944G>A	20.37:g.60448850G>A	ENSP00000353656:p.Arg315Gln	False	False		Somatic	0				CDH4_ENST00000543233.1_Missense_Mutation_p.R241Q	p.R315Q	NM_001794.3	NP_001785.2	WXS	Illumina HiSeq	Phase_I	P55283	CADH4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		7	1032	+			315			Cadherin 2.		B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	ENST00000360469.5	37	c.944G>A	CCDS13488.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.949030	0.73787	0.0	1.16E-4	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.53206	0.63;0.63	4.92	3.97	0.46021	Cadherin (4);Cadherin-like (1);	0.230798	0.40640	N	0.001048	T	0.45816	0.1361	L	0.58354	1.805	0.36334	D	0.859075	D	0.53745	0.962	P	0.46208	0.507	T	0.54886	-0.8226	9	.	.	.	.	8.4155	0.32668	0.0789:0.0:0.7685:0.1527	.	315	P55283	CADH4_HUMAN	Q	315;223;241	ENSP00000353656:R315Q;ENSP00000443301:R241Q	.	R	+	2	0	CDH4	59882245	1.000000	0.71417	0.967000	0.41034	0.735000	0.41995	6.559000	0.73946	1.068000	0.40764	0.585000	0.79938	CGG		0.612	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	0	NM_001794		20:60448850
ZNF702P	79986	broad.mit.edu	37	19	53473659	53473659	+	RNA	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:53473659C>T	ENST00000600068.1	-	0	489				ZNF702P_ENST00000270443.4_RNA																							GGAAATTATTCCCATACTTAT	0.353																																						ENST00000600068.1		NA																	0					NA															13.0	10.0	11.0					19																	53473659		688	1568	2256			0							g.chr19:53473659C>T																													19.37:g.53473659C>T		True	False		Somatic	0				ZNF702P_ENST00000270443.4_RNA				WXS	Illumina HiSeq	Phase_I					0	489	-			NA						RNA	SNP	ENST00000600068.1	37																																																																																						0.353	CTD-2620I22.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000463881.1	0			19:53473659
SMAD9	4093	broad.mit.edu	37	13	37453546	37453546	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr13:37453546C>T	ENST00000399275.2	-	1	420	c.281G>A	c.(280-282)cGc>cAc	p.R94H	SMAD9_ENST00000483941.1_5'Flank|SMAD9_ENST00000350148.5_Missense_Mutation_p.R94H|SMAD9_ENST00000379826.4_Missense_Mutation_p.R94H			O15198	SMAD9_HUMAN	SMAD family member 9	94	MH1. {ECO:0000255|PROSITE- ProRule:PRU00438}.				BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cartilage development (GO:0051216)|cellular response to organic cyclic compound (GO:0071407)|hindbrain development (GO:0030902)|intracellular signal transduction (GO:0035556)|midbrain development (GO:0030901)|Mullerian duct regression (GO:0001880)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)	cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		GCGCCACACGCGACAGTAAAT	0.627																																						ENST00000379826.4		NA																	0				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18						c.(280-282)cGc>cAc		SMAD family member 9							35.0	38.0	37.0					13																	37453546		2203	4300	6503	SO:0001583	missense	4093				BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity	g.chr13:37453546C>T		CCDS9360.1, CCDS45032.1	13q12-q14	2014-09-17	2006-11-06	2004-05-26	ENSG00000120693	ENSG00000120693		"""SMADs"""	6774	protein-coding gene	gene with protein product		603295	"""MAD, mothers against decapentaplegic homolog 9 (Drosophila)"", ""SMAD, mothers against DPP homolog 9 (Drosophila)"""	MADH6, MADH9		9205116	Standard	NM_001127217		Approved		uc001uvw.3	O15198	OTTHUMG00000016740	ENST00000399275.2:c.281G>A	13.37:g.37453546C>T	ENSP00000382216:p.Arg94His	False	False		Somatic	0				SMAD9_ENST00000350148.5_Missense_Mutation_p.R94H|SMAD9_ENST00000399275.2_Missense_Mutation_p.R94H	p.R94H	NM_001127217.2	NP_001120689.1	WXS	Illumina HiSeq	Phase_I	O15198	SMAD9_HUMAN		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)	2	623	-		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	94			MH1.		A2A2Y6|O14989|Q5TBA1	Missense_Mutation	SNP	ENST00000399275.2	37	c.281G>A	CCDS45032.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.140955	0.77775	.	.	ENSG00000120693	ENST00000399275;ENST00000350148;ENST00000379826	D;D;D	0.82255	-1.59;-1.59;-1.59	5.53	5.53	0.82687	MAD homology, MH1 (3);MAD homology 1, Dwarfin-type (2);	0.000000	0.85682	D	0.000000	D	0.92506	0.7620	M	0.88512	2.96	0.80722	D	1	D;D	0.76494	0.992;0.999	P;D	0.70716	0.801;0.97	D	0.93576	0.6908	10	0.87932	D	0	.	18.4517	0.90705	0.0:1.0:0.0:0.0	.	94;94	O15198-2;O15198	.;SMAD9_HUMAN	H	94	ENSP00000382216:R94H;ENSP00000239885:R94H;ENSP00000369154:R94H	ENSP00000239885:R94H	R	-	2	0	SMAD9	36351546	1.000000	0.71417	0.962000	0.40283	0.019000	0.09904	6.034000	0.70933	2.599000	0.87857	0.563000	0.77884	CGC		0.627	SMAD9-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044525.2	0	NM_005905		13:37453546
JMY	133746	broad.mit.edu	37	5	78586970	78586970	+	Nonsense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:78586970C>T	ENST00000396137.4	+	4	1837	c.1375C>T	c.(1375-1377)Cga>Tga	p.R459*		NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	459					'de novo' actin filament nucleation (GO:0070060)|actin polymerization-dependent cell motility (GO:0070358)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of apoptotic process (GO:0043065)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		TGATCGAATGCGAGCTGATCA	0.358																																						ENST00000396137.4		NA																	0				endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16						c.(1375-1377)Cga>Tga		junction mediating and regulatory protein, p53 cofactor							67.0	63.0	64.0					5																	78586970		1839	4087	5926	SO:0001587	stop_gained	133746				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity	g.chr5:78586970C>T	AK095189	CCDS4047.3	5q14.1	2010-03-23			ENSG00000152409	ENSG00000152409			28916	protein-coding gene	gene with protein product		604279				10518217	Standard	NM_152405		Approved	FLJ37870	uc003kfx.4	Q8N9B5	OTTHUMG00000131301	ENST00000396137.4:c.1375C>T	5.37:g.78586970C>T	ENSP00000379441:p.Arg459*	False	False		Somatic	0					p.R459*	NM_152405.4	NP_689618.4	WXS	Illumina HiSeq	Phase_I	Q8N9B5	JMY_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)	4	1837	+		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)	459					A1L4P5|B5MDS2|B5MDT0	Nonsense_Mutation	SNP	ENST00000396137.4	37	c.1375C>T	CCDS4047.3	.	.	.	.	.	.	.	.	.	.	C	42	9.715321	0.99245	.	.	ENSG00000152409	ENST00000282259;ENST00000396137	.	.	.	5.31	4.36	0.52297	.	0.072710	0.53938	D	0.000047	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	15.8873	0.79261	0.1637:0.8363:0.0:0.0	.	.	.	.	X	459	.	ENSP00000282259:R459X	R	+	1	2	JMY	78622726	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	1.195000	0.32186	2.472000	0.83506	0.555000	0.69702	CGA		0.358	JMY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254070.4	0	NM_152405		5:78586970
FBXL5	26234	broad.mit.edu	37	4	15629518	15629518	+	Missense_Mutation	SNP	G	G	C			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr4:15629518G>C	ENST00000341285.3	-	7	1155	c.1031C>G	c.(1030-1032)tCc>tGc	p.S344C	FBXL5_ENST00000382358.4_Missense_Mutation_p.S218C|FBXL5_ENST00000412094.2_Missense_Mutation_p.S327C	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5	344					iron ion homeostasis (GO:0055072)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	perinuclear region of cytoplasm (GO:0048471)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	iron ion binding (GO:0005506)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						CATTTTGCTGGAAACTGCAGA	0.338																																						ENST00000341285.3		NA																	0				endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						c.(1030-1032)tCc>tGc		F-box and leucine-rich repeat protein 5							83.0	80.0	81.0					4																	15629518		2202	4300	6502	SO:0001583	missense	26234				iron ion homeostasis|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|SCF ubiquitin ligase complex	iron ion binding|protein binding|ubiquitin-protein ligase activity	g.chr4:15629518G>C	AF174591	CCDS3415.1, CCDS54745.1	4p15.33	2011-06-09			ENSG00000118564	ENSG00000118564		"""F-boxes / Leucine-rich repeats"""	13602	protein-coding gene	gene with protein product		605655				10531035	Standard	NM_012161		Approved	FBL4, FBL5, FLR1	uc003goc.2	Q9UKA1	OTTHUMG00000097097	ENST00000341285.3:c.1031C>G	4.37:g.15629518G>C	ENSP00000344866:p.Ser344Cys	True	False		Somatic	0				FBXL5_ENST00000412094.2_Missense_Mutation_p.S327C|FBXL5_ENST00000382358.4_Missense_Mutation_p.S218C	p.S344C	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	WXS	Illumina HiSeq	Phase_I	Q9UKA1	FBXL5_HUMAN			7	1155	-			344					A8MSK4|B4DIB5|Q4W5A8|Q8NHP3|Q9NXN2|Q9P0I0|Q9P0X5|Q9UJT7|Q9UKC8	Missense_Mutation	SNP	ENST00000341285.3	37	c.1031C>G	CCDS3415.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.92|16.92	3.256719|3.256719	0.59321|0.59321	.|.	.|.	ENSG00000118564|ENSG00000118564	ENST00000513163|ENST00000341285;ENST00000412094;ENST00000382358	.|T;T;T	.|0.20598	.|2.06;2.06;2.06	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	.|0.103499	.|0.64402	.|D	.|0.000002	T|T	0.28466|0.28466	0.0704|0.0704	M|M	0.67953|0.67953	2.075|2.075	0.80722|0.80722	D|D	1|1	.|B;B	.|0.12630	.|0.006;0.003	.|B;B	.|0.13407	.|0.009;0.004	T|T	0.05194|0.05194	-1.0900|-1.0900	5|10	.|0.87932	.|D	.|0	-9.4228|-9.4228	17.5156|17.5156	0.87772|0.87772	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|327;344	.|Q9UKA1-2;Q9UKA1	.|.;FBXL5_HUMAN	L|C	264|344;327;218	.|ENSP00000344866:S344C;ENSP00000408679:S327C;ENSP00000371795:S218C	.|ENSP00000344866:S344C	F|S	-|-	3|2	2|0	FBXL5|FBXL5	15238616|15238616	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	8.856000|8.856000	0.92245|0.92245	2.570000|2.570000	0.86706|0.86706	0.460000|0.460000	0.39030|0.39030	TTC|TCC		0.338	FBXL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214235.2	0			4:15629518
LPHN1	22859	broad.mit.edu	37	19	14266197	14266197	+	Missense_Mutation	SNP	C	C	T	rs536482945		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:14266197C>T	ENST00000340736.6	-	19	3580	c.3283G>A	c.(3283-3285)Gtc>Atc	p.V1095I	LPHN1_ENST00000361434.3_Missense_Mutation_p.V1090I|CTB-55O6.12_ENST00000588387.1_RNA|CTB-55O6.12_ENST00000588658.1_RNA|CTB-55O6.12_ENST00000592086.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	1095					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|heterophilic cell-cell adhesion (GO:0007157)|neuropeptide signaling pathway (GO:0007218)|positive regulation of synapse maturation (GO:0090129)	axon (GO:0030424)|cell junction (GO:0030054)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)	p.V1095I(1)		central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CAGTGAAAGACGAAGATGAAG	0.587																																						ENST00000340736.6		NA																	1	Substitution - Missense(1)	p.V1095I(1)	upper_aerodigestive_tract(1)	central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(3283-3285)Gtc>Atc		latrophilin 1							150.0	142.0	145.0					19																	14266197		2203	4300	6503	SO:0001583	missense	22859				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr19:14266197C>T	AB020628	CCDS12307.1, CCDS32928.1	19p13.2	2014-08-08				ENSG00000072071		"""-"", ""GPCR / Class B : Orphans"""	20973	protein-coding gene	gene with protein product						10994649	Standard	NM_014921		Approved	KIAA0821, CIRL1, LEC2	uc010xnn.2	O94910		ENST00000340736.6:c.3283G>A	19.37:g.14266197C>T	ENSP00000340688:p.Val1095Ile	False	False		Somatic	0				LPHN1_ENST00000361434.3_Missense_Mutation_p.V1090I|CTB-55O6.12_ENST00000592086.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA|CTB-55O6.12_ENST00000588658.1_RNA	p.V1095I	NM_001008701.2	NP_001008701.1	WXS	Illumina HiSeq	Phase_I	O94910	LPHN1_HUMAN			19	3580	-			1095					Q96IE7|Q9BU07|Q9HAR3	Missense_Mutation	SNP	ENST00000340736.6	37	c.3283G>A	CCDS32928.1	.	.	.	.	.	.	.	.	.	.	C	5.280	0.237123	0.10023	.	.	ENSG00000072071	ENST00000340736;ENST00000361434	T;T	0.41065	1.01;1.01	5.21	4.18	0.49190	GPCR, family 2-like (1);GPCR, family 2, secretin-like, conserved site (1);	0.070788	0.56097	D	0.000027	T	0.13200	0.0320	N	0.01529	-0.815	0.40998	D	0.984908	B;B	0.10296	0.003;0.003	B;B	0.12837	0.008;0.001	T	0.18808	-1.0325	10	0.02654	T	1	.	7.6688	0.28447	0.0:0.8111:0.0:0.1889	.	1090;1095	O94910-2;O94910	.;LPHN1_HUMAN	I	1095;1090	ENSP00000340688:V1095I;ENSP00000355328:V1090I	ENSP00000340688:V1095I	V	-	1	0	LPHN1	14127197	0.986000	0.35501	0.984000	0.44739	0.998000	0.95712	2.344000	0.44010	1.184000	0.42957	0.561000	0.74099	GTC		0.587	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459696.1	0	NM_014921		19:14266197
OR51A2	401667	broad.mit.edu	37	11	4976514	4976514	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr11:4976514C>T	ENST00000380371.1	-	1	429	c.430G>A	c.(430-432)Gcc>Acc	p.A144T	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004748.1	NP_001004748.1	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A, member 2	144						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCTATTTGGGCAACTCTGACA	0.423																																						ENST00000380371.1		NA																	0				endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(430-432)Gcc>Acc		olfactory receptor, family 51, subfamily A, member 2							111.0	83.0	93.0					11																	4976514		2037	3775	5812	SO:0001583	missense	401667				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4976514C>T	AB065797	CCDS31368.1	11p15.4	2012-08-09			ENSG00000205496	ENSG00000205496		"""GPCR / Class A : Olfactory receptors"""	14764	protein-coding gene	gene with protein product							Standard	NM_001004748		Approved		uc010qyt.2	Q8NGJ7	OTTHUMG00000066602	ENST00000380371.1:c.430G>A	11.37:g.4976514C>T	ENSP00000369729:p.Ala144Thr	True	False		Somatic	0				MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	p.A144T	NM_001004748.1	NP_001004748.1	WXS	Illumina HiSeq	Phase_I	Q8NGJ7	O51A2_HUMAN		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	429	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	144						Missense_Mutation	SNP	ENST00000380371.1	37	c.430G>A	CCDS31368.1	.	.	.	.	.	.	.	.	.	.	-	9.509	1.105347	0.20632	.	.	ENSG00000205496	ENST00000380371	T	0.37752	1.18	3.13	-4.86	0.03132	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.23054	0.0557	L	0.43598	1.365	0.09310	N	1	B	0.19583	0.037	B	0.24006	0.05	T	0.28996	-1.0026	9	0.28530	T	0.3	.	3.2793	0.06909	0.4379:0.2384:0.0:0.3237	.	144	Q8NGJ7	O51A2_HUMAN	T	144	ENSP00000369729:A144T	ENSP00000369729:A144T	A	-	1	0	OR51A2	4933090	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-6.391000	0.00068	-1.068000	0.03156	0.395000	0.25975	GCC		0.423	OR51A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142809.1	0	NM_001004748		11:4976514
LRP1B	53353	broad.mit.edu	37	2	141299402	141299402	+	Missense_Mutation	SNP	C	C	T	rs201587960		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr2:141299402C>T	ENST00000389484.3	-	44	8304	c.7333G>A	c.(7333-7335)Gat>Aat	p.D2445N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2445					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGTGGAATATCGGAACGAAGA	0.388										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3		NA																	0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(7333-7335)Gat>Aat		low density lipoprotein receptor-related protein 1B							168.0	157.0	161.0					2																	141299402		2203	4299	6502	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141299402C>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.7333G>A	2.37:g.141299402C>T	ENSP00000374135:p.Asp2445Asn	False	False	TSP Lung(27;0.18)	Somatic	0					p.D2445N	NM_018557.2	NP_061027.2	WXS	Illumina HiSeq	Phase_I	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	44	8304	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	2445					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.7333G>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	34	5.389777	0.95988	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91180	-2.8	5.45	5.45	0.79879	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	U	0.000000	D	0.91788	0.7402	L	0.33668	1.02	0.58432	D	0.999999	D	0.89917	1.0	D	0.64506	0.926	D	0.88927	0.3370	10	0.18276	T	0.48	.	19.2763	0.94032	0.0:1.0:0.0:0.0	.	2445	Q9NZR2	LRP1B_HUMAN	N	2445;2383	ENSP00000374135:D2445N	ENSP00000374135:D2445N	D	-	1	0	LRP1B	141015872	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.771000	0.85420	2.548000	0.85928	0.484000	0.47621	GAT		0.388	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	0	NM_018557		2:141299402
C8orf76	84933	broad.mit.edu	37	8	124253563	124253563	+	Silent	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr8:124253563G>A	ENST00000276704.4	-	1	75	c.24C>T	c.(22-24)ttC>ttT	p.F8F	ZHX1-C8ORF76_ENST00000357082.4_Intron|C8orf76_ENST00000521310.1_5'UTR	NM_032847.2	NP_116236.1	Q96K31	CH076_HUMAN	chromosome 8 open reading frame 76	8								p.F8L(1)		NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4)	17	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			ACTCGCCGCCGAACAACCAGC	0.716																																						ENST00000276704.4		NA																	1	Substitution - Missense(1)	p.F8L(1)	prostate(1)	NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4)	17						c.(22-24)ttC>ttT		chromosome 8 open reading frame 76							11.0	11.0	11.0					8																	124253563		2168	4258	6426	SO:0001819	synonymous_variant	84933						binding	g.chr8:124253563G>A	AK027731	CCDS6341.1	8q24.13	2012-06-27			ENSG00000189376	ENSG00000189376			25924	protein-coding gene	gene with protein product							Standard	NM_032847		Approved	FLJ14825	uc003yqc.2	Q96K31	OTTHUMG00000172562	ENST00000276704.4:c.24C>T	8.37:g.124253563G>A		False	False		Somatic	0				ZHX1-C8ORF76_ENST00000357082.4_Intron|C8orf76_ENST00000521310.1_5'UTR	p.F8F	NM_032847.2	NP_116236.1	WXS	Illumina HiSeq	Phase_I	Q96K31	CH076_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		1	75	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		8					Q53HC1	Silent	SNP	ENST00000276704.4	37	c.24C>T	CCDS6341.1																																																																																				0.716	C8orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381748.1	0	NM_032847		8:124253563
NNT	23530	broad.mit.edu	37	5	43651892	43651892	+	Missense_Mutation	SNP	A	A	G			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:43651892A>G	ENST00000264663.5	+	13	1990	c.1769A>G	c.(1768-1770)gAc>gGc	p.D590G	NNT_ENST00000344920.4_Missense_Mutation_p.D590G|NNT_ENST00000512996.2_Missense_Mutation_p.D459G	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	590					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					CGTCCCACTGACCCCCCAGAA	0.463																																						ENST00000264663.5		NA																	0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(1768-1770)gAc>gGc		nicotinamide nucleotide transhydrogenase	NADH(DB00157)						159.0	160.0	160.0					5																	43651892		2203	4300	6503	SO:0001583	missense	23530				tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding	g.chr5:43651892A>G	U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.1769A>G	5.37:g.43651892A>G	ENSP00000264663:p.Asp590Gly	True	False		Somatic	0				NNT_ENST00000344920.4_Missense_Mutation_p.D590G|NNT_ENST00000512996.2_Missense_Mutation_p.D459G	p.D590G	NM_012343.3	NP_036475.3	WXS	Illumina HiSeq	Phase_I	Q13423	NNTM_HUMAN			13	1990	+	Lung NSC(6;2.58e-06)		590					Q16796|Q2TB60|Q8N3V4	Missense_Mutation	SNP	ENST00000264663.5	37	c.1769A>G	CCDS3949.1	.	.	.	.	.	.	.	.	.	.	A	27.7	4.854509	0.91355	.	.	ENSG00000112992	ENST00000542759;ENST00000264663;ENST00000344920;ENST00000512996	D;D;D	0.96459	-4.02;-4.02;-3.87	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.98220	0.9411	M	0.86651	2.83	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	D	0.99285	1.0897	10	0.87932	D	0	-27.7305	15.8513	0.78934	1.0:0.0:0.0:0.0	.	590	Q13423	NNTM_HUMAN	G	105;590;590;459	ENSP00000264663:D590G;ENSP00000343873:D590G;ENSP00000426343:D459G	ENSP00000264663:D590G	D	+	2	0	NNT	43687649	1.000000	0.71417	0.816000	0.32577	0.983000	0.72400	8.962000	0.93254	2.152000	0.67230	0.533000	0.62120	GAC		0.463	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1	0	NM_182977		5:43651892
SLC25A46	91137	broad.mit.edu	37	5	110097039	110097039	+	Nonsense_Mutation	SNP	G	G	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:110097039G>T	ENST00000355943.3	+	8	940	c.814G>T	c.(814-816)Gga>Tga	p.G272*	SLC25A46_ENST00000513807.1_Nonsense_Mutation_p.G110*|SLC25A46_ENST00000447245.2_Intron|SLC25A46_ENST00000513706.1_3'UTR|SLC25A46_ENST00000509442.2_Nonsense_Mutation_p.G181*|SLC25A46_ENST00000504098.1_Nonsense_Mutation_p.G126*|SLC25A46_ENST00000509432.1_Nonsense_Mutation_p.G59*	NM_138773.1	NP_620128.1	Q96AG3	S2546_HUMAN	solute carrier family 25, member 46	272					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10		all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211)		GGTGCTTCATGGAGTTCTTCA	0.433																																						ENST00000355943.3		NA																	0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10						c.(814-816)Gga>Tga		solute carrier family 25, member 46							143.0	138.0	140.0					5																	110097039		2202	4300	6502	SO:0001587	stop_gained	91137				transport	integral to membrane|mitochondrial inner membrane		g.chr5:110097039G>T	BC017169	CCDS4100.1	5q22.1	2013-05-22			ENSG00000164209	ENSG00000164209		"""Solute carriers"""	25198	protein-coding gene	gene with protein product		610826				1651562, 1651563, 16949250	Standard	NM_138773		Approved		uc003koz.3	Q96AG3	OTTHUMG00000128794	ENST00000355943.3:c.814G>T	5.37:g.110097039G>T	ENSP00000348211:p.Gly272*	False	False		Somatic	0				SLC25A46_ENST00000513706.1_3'UTR|SLC25A46_ENST00000504098.1_Nonsense_Mutation_p.G126*|SLC25A46_ENST00000447245.2_Intron|SLC25A46_ENST00000509442.2_Nonsense_Mutation_p.G181*|SLC25A46_ENST00000509432.1_Nonsense_Mutation_p.G59*|SLC25A46_ENST00000513807.1_Nonsense_Mutation_p.G110*	p.G272*	NM_138773.1	NP_620128.1	WXS	Illumina HiSeq	Phase_I	Q96AG3	S2546_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211)	8	940	+		all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156)	272					A8K2F2|B3KRE6|B4DTA3|D3DSZ6|D6R9W7|Q04197	Nonsense_Mutation	SNP	ENST00000355943.3	37	c.814G>T	CCDS4100.1	.	.	.	.	.	.	.	.	.	.	G	41	8.647432	0.98899	.	.	ENSG00000164209	ENST00000513807;ENST00000509442;ENST00000355943;ENST00000514046;ENST00000504098;ENST00000509432	.	.	.	5.96	5.96	0.96718	.	0.046676	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-10.8844	20.4192	0.99033	0.0:0.0:1.0:0.0	.	.	.	.	X	110;181;272;126;126;59	.	ENSP00000348211:G272X	G	+	1	0	SLC25A46	110124938	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.713000	0.91408	2.831000	0.97527	0.650000	0.86243	GGA		0.433	SLC25A46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250721.5	0	NM_138773		5:110097039
PRODH2	58510	broad.mit.edu	37	19	36303061	36303061	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:36303061G>A	ENST00000301175.3	-	4	730	c.713C>T	c.(712-714)aCg>aTg	p.T238M		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	238					proline catabolic process to glutamate (GO:0010133)	mitochondrial inner membrane (GO:0005743)	proline dehydrogenase activity (GO:0004657)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGTCAGCGCCGTCACCTTCAG	0.687																																						ENST00000301175.3		NA																	0				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						c.(712-714)aCg>aTg		proline dehydrogenase (oxidase) 2							53.0	58.0	56.0					19																	36303061		2203	4300	6503	SO:0001583	missense	58510				glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity	g.chr19:36303061G>A	U80018	CCDS12478.1	19q13.1	2014-07-11				ENSG00000250799			17325	protein-coding gene	gene with protein product							Standard	NM_021232		Approved	HSPOX1	uc002obx.1	Q9UF12		ENST00000301175.3:c.713C>T	19.37:g.36303061G>A	ENSP00000301175:p.Thr238Met	False	False		Somatic	0					p.T238M	NM_021232.1	NP_067055.1	WXS	Illumina HiSeq	Phase_I	Q9UF12	PROD2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		4	730	-	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		238						Missense_Mutation	SNP	ENST00000301175.3	37	c.713C>T	CCDS12478.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.186150	0.78789	.	.	ENSG00000250799	ENST00000301175	T	0.41065	1.01	4.85	4.85	0.62838	.	.	.	.	.	T	0.62986	0.2473	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.65987	0.94	T	0.66925	-0.5800	9	0.66056	D	0.02	.	15.5053	0.75735	0.0:0.0:1.0:0.0	.	238	Q9UF12	PROD2_HUMAN	M	238	ENSP00000301175:T238M	ENSP00000301175:T238M	T	-	2	0	PRODH2	40994901	1.000000	0.71417	0.997000	0.53966	0.859000	0.49053	7.408000	0.80041	2.531000	0.85337	0.655000	0.94253	ACG		0.687	PRODH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452552.2	0	NM_021232		19:36303061
VPS18	57617	broad.mit.edu	37	15	41192857	41192857	+	Nonsense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr15:41192857G>A	ENST00000220509.5	+	4	2180	c.1841G>A	c.(1840-1842)tGg>tAg	p.W614*	VPS18_ENST00000558474.1_Intron	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	614					endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|vesicle-mediated transport (GO:0016192)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GTAGATGCCTGGATTGAGATG	0.637																																						ENST00000220509.5		NA																	0				autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28						c.(1840-1842)tGg>tAg		vacuolar protein sorting 18 homolog (S. cerevisiae)							78.0	76.0	77.0					15																	41192857		2203	4300	6503	SO:0001587	stop_gained	57617				endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding	g.chr15:41192857G>A	AF308802	CCDS10069.1	15q14-q15	2006-12-19	2006-12-19		ENSG00000104142	ENSG00000104142			15972	protein-coding gene	gene with protein product		608551	"""vacuolar protein sorting protein 18"""			11250079, 16203730	Standard	NM_020857		Approved	KIAA1475, PEP3	uc001zne.3	Q9P253	OTTHUMG00000130135	ENST00000220509.5:c.1841G>A	15.37:g.41192857G>A	ENSP00000220509:p.Trp614*	False	False		Somatic	0				VPS18_ENST00000558474.1_Intron	p.W614*	NM_020857.2	NP_065908.1	WXS	Illumina HiSeq	Phase_I	Q9P253	VPS18_HUMAN		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)	4	2180	+		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	614					Q8TCG0|Q96DI3|Q9H268	Nonsense_Mutation	SNP	ENST00000220509.5	37	c.1841G>A	CCDS10069.1	.	.	.	.	.	.	.	.	.	.	G	40	8.369804	0.98781	.	.	ENSG00000104142	ENST00000220509	.	.	.	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.9768	20.1278	0.97990	0.0:0.0:1.0:0.0	.	.	.	.	X	614	.	ENSP00000220509:W614X	W	+	2	0	VPS18	38980149	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.869000	0.99810	2.768000	0.95171	0.561000	0.74099	TGG		0.637	VPS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252443.2	0			15:41192857
NSUN3	63899	broad.mit.edu	37	3	93783283	93783283	+	Silent	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:93783283G>A	ENST00000314622.4	+	2	226	c.15G>A	c.(13-15)ctG>ctA	p.L5L	DHFRL1_ENST00000314636.2_5'Flank|DHFRL1_ENST00000394221.2_5'Flank|DHFRL1_ENST00000481631.1_5'Flank|NSUN3_ENST00000485793.1_3'UTR	NM_022072.3	NP_071355.1	Q9H649	NSUN3_HUMAN	NOP2/Sun domain family, member 3	5							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	18						CGTCATAGCTGAAAGCAAAAT	0.353																																						ENST00000314622.4		NA																	0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	18						c.(13-15)ctG>ctA		NOP2/Sun domain family, member 3							73.0	75.0	75.0					3																	93783283		2203	4300	6503	SO:0001819	synonymous_variant	63899						methyltransferase activity	g.chr3:93783283G>A	BC020602	CCDS2927.1	3q11.2	2009-11-23	2009-11-23		ENSG00000178694	ENSG00000178694		"""NOP2/Sun domain containing"""	26208	protein-coding gene	gene with protein product			"""NOL1/NOP2/Sun domain family 3"", ""NOL1/NOP2/Sun domain family, member 3"""			12477932	Standard	NM_022072		Approved	FLJ22609	uc003drl.1	Q9H649	OTTHUMG00000159025	ENST00000314622.4:c.15G>A	3.37:g.93783283G>A		True	False		Somatic	0				NSUN3_ENST00000485793.1_3'UTR	p.L5L	NM_022072.3	NP_071355.1	WXS	Illumina HiSeq	Phase_I	Q9H649	NSUN3_HUMAN			2	226	+			5					Q6PG41|Q8IXG9|Q9H6M2	Silent	SNP	ENST00000314622.4	37	c.15G>A	CCDS2927.1																																																																																				0.353	NSUN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352934.1	0	NM_022072		3:93783283
CYP19A1	1588	broad.mit.edu	37	15	51504611	51504611	+	Missense_Mutation	SNP	T	T	C			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr15:51504611T>C	ENST00000396402.1	-	9	1322	c.1169A>G	c.(1168-1170)aAg>aGg	p.K390R	RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000260433.2_Missense_Mutation_p.K390R|CYP19A1_ENST00000559878.1_Missense_Mutation_p.K390R|CYP19A1_ENST00000396404.4_Missense_Mutation_p.K390R	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN	cytochrome P450, family 19, subfamily A, polypeptide 1	390					androgen metabolic process (GO:0008209)|estrogen biosynthetic process (GO:0006703)|prostate gland growth (GO:0060736)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)	aromatase activity (GO:0070330)|electron carrier activity (GO:0009055)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Betamethasone(DB00443)|Bifonazole(DB04794)|Buserelin(DB06719)|Carbimazole(DB00389)|Chlorphenesin(DB00856)|Clomifene(DB00882)|Clotrimazole(DB00257)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Dinoprostone(DB00917)|Drostanolone(DB00858)|Econazole(DB01127)|Edetic Acid(DB00974)|Etomidate(DB00292)|Exemestane(DB00990)|Ketoconazole(DB01026)|Letrozole(DB01006)|Levomethadyl Acetate(DB01227)|Levonorgestrel(DB00367)|Mefloquine(DB00358)|Melatonin(DB01065)|Methadone(DB00333)|Methyltestosterone(DB06710)|Miconazole(DB01110)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nicotine(DB00184)|Paclitaxel(DB01229)|Raloxifene(DB00481)|Sulfathiazole(DB06147)|Tamoxifen(DB00675)|Terbinafine(DB00857)|Testolactone(DB00894)|Testosterone(DB00624)|Tioconazole(DB01007)|Trastuzumab(DB00072)	GTTTGTCCCCTTTTTCACTGG	0.413																																					Melanoma(142;1016 1807 39614 48966 51721)	ENST00000396402.1		NA																	0				endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33						c.(1168-1170)aAg>aGg		cytochrome P450, family 19, subfamily A, polypeptide 1	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)						190.0	173.0	179.0					15																	51504611		2196	4293	6489	SO:0001583	missense	0				estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity	g.chr15:51504611T>C	D14473	CCDS10139.1	15q21	2009-01-26	2003-02-14	2003-02-28	ENSG00000137869	ENSG00000137869		"""Cytochrome P450s"""	2594	protein-coding gene	gene with protein product		107910	"""cytochrome P450, subfamily XIX (aromatization of androgens)"""	CYP19		8477708	Standard	NM_031226		Approved	ARO, P-450AROM, CPV1, ARO1, CYAR, aromatase	uc001zza.4	P11511	OTTHUMG00000131747	ENST00000396402.1:c.1169A>G	15.37:g.51504611T>C	ENSP00000379683:p.Lys390Arg	True	False		Somatic	0				CYP19A1_ENST00000559878.1_Missense_Mutation_p.K390R|CYP19A1_ENST00000260433.2_Missense_Mutation_p.K390R|RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000396404.4_Missense_Mutation_p.K390R	p.K390R	NM_000103.3	NP_000094.2	WXS	Illumina HiSeq	Phase_I	P11511	CP19A_HUMAN		all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	9	1322	-			390					Q16731|Q3B764|Q58FA0|Q8IYJ7	Missense_Mutation	SNP	ENST00000396402.1	37	c.1169A>G	CCDS10139.1	.	.	.	.	.	.	.	.	.	.	T	15.74	2.922211	0.52653	.	.	ENSG00000137869	ENST00000396402;ENST00000260433;ENST00000396404	T;T;T	0.73575	-0.76;-0.76;-0.76	6.06	2.13	0.27403	.	0.084915	0.85682	N	0.000000	T	0.69691	0.3139	L	0.58354	1.805	0.46279	D	0.998961	B	0.15141	0.012	B	0.27262	0.078	T	0.66152	-0.5995	10	0.52906	T	0.07	-23.6398	10.5475	0.45068	0.0:0.2114:0.0:0.7886	.	390	P11511	CP19A_HUMAN	R	390	ENSP00000379683:K390R;ENSP00000260433:K390R;ENSP00000379685:K390R	ENSP00000260433:K390R	K	-	2	0	CYP19A1	49291903	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	3.131000	0.50515	0.541000	0.28827	0.533000	0.62120	AAG		0.413	CYP19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254669.1	0			15:51504611
EIF4G1	1981	broad.mit.edu	37	3	184038482	184038482	+	Missense_Mutation	SNP	G	G	A	rs34838305	byFrequency	TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:184038482G>A	ENST00000346169.2	+	8	873	c.602G>A	c.(601-603)cGc>cAc	p.R201H	EIF4G1_ENST00000424196.1_Missense_Mutation_p.R208H|EIF4G1_ENST00000414031.1_Missense_Mutation_p.R161H|EIF4G1_ENST00000434061.2_Missense_Mutation_p.R5H|EIF4G1_ENST00000342981.4_Missense_Mutation_p.R201H|EIF4G1_ENST00000350481.5_Missense_Mutation_p.R37H|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000382330.3_Missense_Mutation_p.R208H|EIF4G1_ENST00000435046.2_Missense_Mutation_p.R5H|EIF4G1_ENST00000441154.1_Missense_Mutation_p.R37H|EIF4G1_ENST00000352767.3_Missense_Mutation_p.R208H|EIF4G1_ENST00000319274.6_Missense_Mutation_p.R201H|EIF4G1_ENST00000392537.2_Missense_Mutation_p.R114H|EIF4G1_ENST00000411531.1_Missense_Mutation_p.R161H|EIF4G1_ENST00000427845.1_Missense_Mutation_p.R114H	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	201					cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|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)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCTGGGGCCCGCACTGCCTCC	0.547																																						ENST00000342981.4		NA																	0				central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75						c.(601-603)cGc>cAc		eukaryotic translation initiation factor 4 gamma, 1		G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	91.0	80.0	83.0		623,623,14,602,602,110,341	4.2	1.0	3	dbSNP_126	83	4,8596	3.7+/-12.6	0,4,4296	yes	missense,missense,missense,missense,missense,missense,missense	EIF4G1	NM_001194946.1,NM_001194947.1,NM_004953.4,NM_182917.4,NM_198241.2,NM_198242.2,NM_198244.2	29,29,29,29,29,29,29	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	208/1607,208/1607,5/1405,201/1601,201/1600,37/1436,114/1513	184038482	4,13002	2203	4300	6503	SO:0001583	missense	1981				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr3:184038482G>A	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.602G>A	3.37:g.184038482G>A	ENSP00000316879:p.Arg201His	True	False		Somatic	0				EIF4G1_ENST00000427845.1_Missense_Mutation_p.R114H|EIF4G1_ENST00000424196.1_Missense_Mutation_p.R208H|EIF4G1_ENST00000434061.2_Missense_Mutation_p.R5H|EIF4G1_ENST00000319274.6_Missense_Mutation_p.R201H|EIF4G1_ENST00000346169.2_Missense_Mutation_p.R201H|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000435046.2_Missense_Mutation_p.R5H|EIF4G1_ENST00000411531.1_Missense_Mutation_p.R161H|EIF4G1_ENST00000414031.1_Missense_Mutation_p.R161H|EIF4G1_ENST00000441154.1_Missense_Mutation_p.R37H|EIF4G1_ENST00000392537.2_Missense_Mutation_p.R114H|EIF4G1_ENST00000350481.5_Missense_Mutation_p.R37H|EIF4G1_ENST00000382330.3_Missense_Mutation_p.R208H|EIF4G1_ENST00000352767.3_Missense_Mutation_p.R208H	p.R201H	NM_182917.4	NP_886553	WXS	Illumina HiSeq	Phase_I	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		7	1016	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		201					D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	ENST00000346169.2	37	c.602G>A	CCDS3259.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.213090	0.79352	0.0	4.65E-4	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000444134;ENST00000450424;ENST00000421110;ENST00000382330;ENST00000426123;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000456033;ENST00000411531;ENST00000444861;ENST00000441154;ENST00000428387;ENST00000434061;ENST00000427607;ENST00000457456;ENST00000435046	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.66460	1.11;1.11;1.11;0.19;1.11;1.11;1.11;1.11;3.39;1.11;1.11;1.11;1.11;1.11;1.11;1.11;1.95;3.37;0.07;3.31;-0.21;0.78;3.32	5.08	4.21	0.49690	.	0.062143	0.64402	N	0.000015	T	0.53626	0.1808	L	0.32530	0.975	0.53688	D	0.999978	B;B;B;B	0.19073	0.033;0.033;0.033;0.033	B;B;B;B	0.15052	0.012;0.012;0.012;0.007	T	0.47749	-0.9093	10	0.20519	T	0.43	-3.7867	13.5567	0.61763	0.0749:0.0:0.9251:0.0	rs34838305	208;201;201;208	E9PFM1;D3DNT2;Q04637;B2RU10	.;.;IF4G1_HUMAN;.	H	201;161;114;5;201;208;208;142;37;208;114;201;201;208;151;161;37;37;5;5;5;5;5	ENSP00000316879:R201H;ENSP00000391935:R161H;ENSP00000376320:R114H;ENSP00000407244:R5H;ENSP00000391412:R201H;ENSP00000413159:R208H;ENSP00000371767:R208H;ENSP00000403269:R142H;ENSP00000317600:R37H;ENSP00000338020:R208H;ENSP00000407682:R114H;ENSP00000343450:R201H;ENSP00000323737:R201H;ENSP00000416255:R208H;ENSP00000415943:R151H;ENSP00000395974:R161H;ENSP00000398145:R37H;ENSP00000399858:R37H;ENSP00000411707:R5H;ENSP00000411826:R5H;ENSP00000409545:R5H;ENSP00000399969:R5H;ENSP00000404754:R5H	ENSP00000323737:R201H	R	+	2	0	EIF4G1	185521176	1.000000	0.71417	0.996000	0.52242	0.999000	0.98932	7.439000	0.80444	1.377000	0.46286	0.655000	0.94253	CGC		0.547	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	0	NM_182917		3:184038482
ANO6	196527	broad.mit.edu	37	12	45814920	45814920	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:45814920C>T	ENST00000320560.8	+	18	2486	c.2284C>T	c.(2284-2286)Cct>Tct	p.P762S	ANO6_ENST00000435642.1_Missense_Mutation_p.P762S|ANO6_ENST00000441606.2_Missense_Mutation_p.P744S|ANO6_ENST00000423947.3_Missense_Mutation_p.P783S|ANO6_ENST00000425752.2_Missense_Mutation_p.P762S|ANO6_ENST00000426898.2_3'UTR	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	762					activation of blood coagulation via clotting cascade (GO:0002543)|blood coagulation (GO:0007596)|bone mineralization involved in bone maturation (GO:0035630)|calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|phosphatidylserine exposure on blood platelet (GO:0097045)|phospholipid scrambling (GO:0017121)|positive regulation of endothelial cell apoptotic process (GO:2000353)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)|voltage-gated chloride channel activity (GO:0005247)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						CTTCTCCGTCCCTCCCTACGG	0.473																																						ENST00000320560.8		NA																	0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						c.(2284-2286)Cct>Tct		anoctamin 6							185.0	156.0	166.0					12																	45814920		2203	4300	6503	SO:0001583	missense	196527				activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity	g.chr12:45814920C>T	AL832340	CCDS31782.1, CCDS44865.1, CCDS44866.1, CCDS55819.1	12q12-q13.11	2014-09-17	2008-08-28	2008-08-28				"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	25240	protein-coding gene	gene with protein product		608663	"""transmembrane protein 16F"""	TMEM16F		15067359, 24692353	Standard	NM_001025356		Approved	DKFZp313M0720	uc010slf.2	Q4KMQ2	OTTHUMG00000169564	ENST00000320560.8:c.2284C>T	12.37:g.45814920C>T	ENSP00000320087:p.Pro762Ser	True	False		Somatic	0				ANO6_ENST00000423947.3_Missense_Mutation_p.P783S|ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000435642.1_Missense_Mutation_p.P762S|ANO6_ENST00000441606.2_Missense_Mutation_p.P744S|ANO6_ENST00000425752.2_Missense_Mutation_p.P762S	p.P762S	NM_001025356.2	NP_001020527.2	WXS	Illumina HiSeq	Phase_I	Q4KMQ2	ANO6_HUMAN			18	2486	+			762					A6NNM6|B9EGG0|E7ENK4|E9PB30|E9PCT2|Q8N3Q2	Missense_Mutation	SNP	ENST00000320560.8	37	c.2284C>T	CCDS31782.1	.	.	.	.	.	.	.	.	.	.	C	11.84	1.759155	0.31137	.	.	ENSG00000177119	ENST00000425752;ENST00000423947;ENST00000435642;ENST00000320560;ENST00000441606	T;T;T;T;T	0.69435	-0.4;-0.27;-0.4;-0.26;-0.26	5.05	5.05	0.67936	.	0.319688	0.35151	N	0.003416	T	0.55784	0.1942	L	0.34521	1.04	0.46798	D	0.999205	B;B;B;B	0.27068	0.008;0.055;0.167;0.006	B;B;B;B	0.23018	0.019;0.02;0.031;0.043	T	0.51718	-0.8670	10	0.13853	T	0.58	.	19.2834	0.94061	0.0:1.0:0.0:0.0	.	744;783;762;762	E9PB30;B9EGG0;E9PCT2;Q4KMQ2	.;.;.;ANO6_HUMAN	S	762;783;762;762;744	ENSP00000391417:P762S;ENSP00000409126:P783S;ENSP00000413840:P762S;ENSP00000320087:P762S;ENSP00000413137:P744S	ENSP00000320087:P762S	P	+	1	0	ANO6	44101187	0.996000	0.38824	0.803000	0.32268	0.219000	0.24729	3.992000	0.56980	2.717000	0.92951	0.650000	0.86243	CCT		0.473	ANO6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404822.1	0	XM_113743		12:45814920
SCN5A	6331	broad.mit.edu	37	3	38592068	38592068	+	Missense_Mutation	SNP	G	G	A	rs371194826		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:38592068G>A	ENST00000333535.4	-	28	5944	c.5795C>T	c.(5794-5796)gCg>gTg	p.A1932V	SCN5A_ENST00000413689.1_Missense_Mutation_p.A1932V|SCN5A_ENST00000451551.2_Missense_Mutation_p.A1878V|SCN5A_ENST00000414099.2_Missense_Mutation_p.A1914V|SCN5A_ENST00000455624.2_Missense_Mutation_p.A1899V|SCN5A_ENST00000464652.1_5'Flank|SCN5A_ENST00000425664.1_Missense_Mutation_p.A1914V|SCN5A_ENST00000450102.2_Missense_Mutation_p.A1878V|SCN5A_ENST00000443581.1_Missense_Mutation_p.A1931V|SCN5A_ENST00000449557.2_Missense_Mutation_p.A1878V|SCN5A_ENST00000423572.2_Missense_Mutation_p.A1931V			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1932					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	GCCGCTGCCCGCCTGCTGACG	0.622																																						ENST00000413689.1		NA																	0				NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107						c.(5794-5796)gCg>gTg		sodium channel, voltage-gated, type V, alpha subunit	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	G	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	1,4127		0,1,2063	48.0	56.0	53.0		5792,5795,5741,5696,5633,5795	3.1	0.1	3		53	0,8370		0,0,4185	no	missense,missense,missense,missense,missense,missense	SCN5A	NM_000335.4,NM_001099404.1,NM_001099405.1,NM_001160160.1,NM_001160161.1,NM_198056.2	64,64,64,64,64,64	0,1,6248	AA,AG,GG		0.0,0.0242,0.0080	benign,benign,benign,benign,benign,benign	1931/2016,1932/2017,1914/1999,1899/1984,1878/1963,1932/2017	38592068	1,12497	2064	4185	6249	SO:0001583	missense	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38592068G>A	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.5795C>T	3.37:g.38592068G>A	ENSP00000328968:p.Ala1932Val	True	False		Somatic	0				SCN5A_ENST00000425664.1_Missense_Mutation_p.A1914V|SCN5A_ENST00000449557.2_Missense_Mutation_p.A1878V|SCN5A_ENST00000423572.2_Missense_Mutation_p.A1931V|SCN5A_ENST00000333535.4_Missense_Mutation_p.A1932V|SCN5A_ENST00000455624.2_Missense_Mutation_p.A1899V|SCN5A_ENST00000414099.2_Missense_Mutation_p.A1914V|SCN5A_ENST00000450102.2_Missense_Mutation_p.A1878V|SCN5A_ENST00000443581.1_Missense_Mutation_p.A1931V|SCN5A_ENST00000451551.2_Missense_Mutation_p.A1878V	p.A1932V	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	WXS	Illumina HiSeq	Phase_I	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	28	5988	-	Medulloblastoma(35;0.163)		1932					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	c.5795C>T	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	G	0.361	-0.939513	0.02322	2.42E-4	0.0	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.95949	-3.77;-3.8;-3.8;-3.81;-3.8;-3.77;-3.8;-3.86;-3.81;-3.81	4.86	3.08	0.35506	.	0.586375	0.16484	N	0.212412	D	0.90157	0.6924	N	0.20685	0.6	0.09310	N	1	B;B;B;B;B;B	0.09022	0.0;0.001;0.0;0.001;0.002;0.001	B;B;B;B;B;B	0.12156	0.001;0.001;0.002;0.002;0.007;0.004	T	0.82226	-0.0562	10	0.52906	T	0.07	.	10.9373	0.47253	0.1517:0.0:0.8483:0.0	.	1878;1899;1914;1932;1931;1932	E9PEF3;E9PHB6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;SCN5A_HUMAN;.;.	V	1914;1931;1932;1878;1931;1914;1932;1899;1878;1878	ENSP00000398962:A1914V;ENSP00000398266:A1931V;ENSP00000410257:A1932V;ENSP00000388797:A1878V;ENSP00000397915:A1931V;ENSP00000416634:A1914V;ENSP00000328968:A1932V;ENSP00000399524:A1899V;ENSP00000403355:A1878V;ENSP00000413996:A1878V	ENSP00000328968:A1932V	A	-	2	0	SCN5A	38567072	0.004000	0.15560	0.104000	0.21259	0.085000	0.17905	1.632000	0.37102	0.662000	0.31006	-0.218000	0.12543	GCG		0.622	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	0	NM_198056		3:38592068
FAM86EP	348926	broad.mit.edu	37	4	3944897	3944897	+	RNA	SNP	A	A	G			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr4:3944897A>G	ENST00000313946.8	-	0	1434									family with sequence similarity 86, member E, pseudogene																		ATATTCTCCAAACATTCCAGT	0.448																																						ENST00000313946.8		NA																	0					NA																																														0							g.chr4:3944897A>G			4p16.3	2011-07-01			ENSG00000251669	ENSG00000251669			28017	pseudogene	pseudogene						12477932	Standard	NR_024253		Approved		uc011bvu.2		OTTHUMG00000159867		4.37:g.3944897A>G		True	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	1434	-			NA						RNA	SNP	ENST00000313946.8	37																																																																																						0.448	FAM86EP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000357822.1	0			4:3944897
KRTAP4-11	653240	broad.mit.edu	37	17	39274042	39274042	+	Missense_Mutation	SNP	G	G	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr17:39274042G>T	ENST00000391413.2	-	1	564	c.526C>A	c.(526-528)Cgc>Agc	p.R176S		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	176						keratin filament (GO:0045095)				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			CAGGTTGGGCGATAGCAAGTG	0.652																																						ENST00000391413.2		NA																	0				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(526-528)Cgc>Agc		keratin associated protein 4-11							61.0	65.0	64.0					17																	39274042		692	1590	2282	SO:0001583	missense	653240					keratin filament		g.chr17:39274042G>T	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.526C>A	17.37:g.39274042G>T	ENSP00000375232:p.Arg176Ser	False	False		Somatic	0					p.R176S	NM_033059.3	NP_149048.2	WXS	Illumina HiSeq	Phase_I	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	564	-		Breast(137;0.000496)	176					A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.526C>A	CCDS45675.1	.	.	.	.	.	.	.	.	.	.	.	13.70	2.315549	0.40996	.	.	ENSG00000212721	ENST00000391413	T	0.00634	6.07	4.67	4.67	0.58626	.	.	.	.	.	T	0.01695	0.0054	M	0.92169	3.28	0.26903	N	0.967065	B	0.27013	0.166	B	0.19391	0.025	T	0.19128	-1.0315	9	0.45353	T	0.12	.	8.8425	0.35151	0.1037:0.0:0.8963:0.0	.	176	Q9BYQ6	KR411_HUMAN	S	176	ENSP00000375232:R176S	ENSP00000375232:R176S	R	-	1	0	KRTAP4-11	36527568	0.285000	0.24296	0.999000	0.59377	0.950000	0.60333	1.063000	0.30567	2.146000	0.66826	0.609000	0.83330	CGC		0.652	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1	0			17:39274042
HERC2P3	283755	broad.mit.edu	37	15	20644850	20644850	+	RNA	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr15:20644850G>A	ENST00000428453.1	-	0	3097							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)	p.A803V(4)		central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						CATGTCCCTCGCCCTTTCGGT	0.463																																						ENST00000428453.1		NA																	4	Substitution - Missense(4)	p.A803V(4)	lung(3)|endometrium(1)	central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35															116.0	62.0	82.0					15																	20644850		1509	2699	4208			0							g.chr15:20644850G>A	AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20644850G>A		True	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	3097	-			NA						RNA	SNP	ENST00000428453.1	37																																																																																						0.463	HERC2P3-014	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347772.2	0	NG_008269		15:20644850
PAPLN	89932	broad.mit.edu	37	14	73732116	73732116	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr14:73732116C>T	ENST00000554301.1	+	22	3327	c.3164C>T	c.(3163-3165)gCc>gTc	p.A1055V	PAPLN_ENST00000340738.5_Missense_Mutation_p.A1028V|PAPLN_ENST00000427855.1_Missense_Mutation_p.A1055V|PAPLN_ENST00000381166.3_Missense_Mutation_p.A1055V|PAPLN_ENST00000555445.1_Missense_Mutation_p.A1039V			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	1055	Ig-like C2-type 2.					basement membrane (GO:0005604)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		GTGGTGGATGCCAGTCCAGGC	0.667																																						ENST00000427855.1		NA																	0				NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42						c.(3163-3165)gCc>gTc		papilin, proteoglycan-like sulfated glycoprotein							57.0	59.0	59.0					14																	73732116		2203	4300	6503	SO:0001583	missense	89932					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding	g.chr14:73732116C>T	BC042057	CCDS32114.1	14q24.2	2013-01-11				ENSG00000100767		"""Immunoglobulin superfamily / I-set domain containing"""	19262	protein-coding gene	gene with protein product						11076767, 19734141	Standard	NM_173462		Approved	MGC50452	uc001xnw.4	O95428		ENST00000554301.1:c.3164C>T	14.37:g.73732116C>T	ENSP00000451803:p.Ala1055Val	False	False		Somatic	0				PAPLN_ENST00000554301.1_Missense_Mutation_p.A1055V|PAPLN_ENST00000340738.5_Missense_Mutation_p.A1028V|PAPLN_ENST00000555445.1_Missense_Mutation_p.A1039V|PAPLN_ENST00000381166.3_Missense_Mutation_p.A1055V	p.A1055V			WXS	Illumina HiSeq	Phase_I	O95428	PPN_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)	23	3266	+			1055			Ig-like C2-type 2.		B4DES8|B4DGE6|Q659F2|Q6UXJ4|Q6ZNM1|Q6ZUJ0|Q7Z681|Q8IVU0	Missense_Mutation	SNP	ENST00000554301.1	37	c.3164C>T		.	.	.	.	.	.	.	.	.	.	C	20.4	3.989697	0.74589	.	.	ENSG00000100767	ENST00000340738;ENST00000427855;ENST00000381166;ENST00000554301;ENST00000555445	T;T;T;T;T	0.62788	-0.0;-0.0;-0.0;-0.0;-0.0	4.6	2.74	0.32292	Immunoglobulin I-set (1);Immunoglobulin-like (1);	.	.	.	.	T	0.57301	0.2044	N	0.12527	0.23	0.30773	N	0.742865	D;D;P;P;P	0.63880	0.978;0.993;0.891;0.633;0.934	P;P;P;B;P	0.60609	0.805;0.877;0.782;0.417;0.623	T	0.57849	-0.7740	9	0.45353	T	0.12	.	9.7127	0.40256	0.0:0.7811:0.1416:0.0773	.	1039;1055;1055;254;1028	O95428-5;O95428;O95428-4;O95428-2;O95428-6	.;PPN_HUMAN;.;.;.	V	1028;1055;1055;1055;1039	ENSP00000345395:A1028V;ENSP00000403403:A1055V;ENSP00000370558:A1055V;ENSP00000451803:A1055V;ENSP00000451729:A1039V	ENSP00000345395:A1028V	A	+	2	0	PAPLN	72801869	0.999000	0.42202	0.131000	0.22000	0.867000	0.49689	2.669000	0.46825	0.546000	0.28920	0.561000	0.74099	GCC		0.667	PAPLN-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000413182.1	0	NM_173462		14:73732116
TBX5	6910	broad.mit.edu	37	12	114839668	114839668	+	Missense_Mutation	SNP	C	C	T	rs104894377		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:114839668C>T	ENST00000310346.4	-	3	871	c.205G>A	c.(205-207)Gaa>Aaa	p.E69K	TBX5_ENST00000349716.5_Missense_Mutation_p.E19K|TBX5_ENST00000405440.2_Missense_Mutation_p.E69K|TBX5_ENST00000526441.1_Missense_Mutation_p.E69K|TBX5_ENST00000552726.1_5'UTR	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	69					apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|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 positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.E69K(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		GTGCCCACTTCGTGGAATTTT	0.463																																					NSCLC(152;1358 1980 4050 23898 40356)	ENST00000310346.4		NA																	1	Substitution - Missense(1)	p.E69K(1)	skin(1)	endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	GRCh37	CM971436	TBX5	M	rs104894377	c.(205-207)Gaa>Aaa		T-box 5							178.0	144.0	156.0					12																	114839668		2203	4300	6503	SO:0001583	missense	6910				cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr12:114839668C>T	U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225		"""T-boxes"""	11604	protein-coding gene	gene with protein product		601620		HOS		8988165, 8054982	Standard	NM_000192		Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.205G>A	12.37:g.114839668C>T	ENSP00000309913:p.Glu69Lys	False	False		Somatic	0				TBX5_ENST00000526441.1_Missense_Mutation_p.E69K|TBX5_ENST00000552726.1_5'UTR|TBX5_ENST00000349716.5_Missense_Mutation_p.E19K|TBX5_ENST00000405440.2_Missense_Mutation_p.E69K	p.E69K	NM_000192.3	NP_000183.2	WXS	Illumina HiSeq	Phase_I	Q99593	TBX5_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0893)	3	871	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		69					A6ND77|O15301|Q96TB0|Q9Y4I2	Missense_Mutation	SNP	ENST00000310346.4	37	c.205G>A	CCDS9173.1	.	.	.	.	.	.	.	.	.	.	C	14.80	2.642376	0.47153	.	.	ENSG00000089225	ENST00000349716;ENST00000310346;ENST00000405440;ENST00000526441	D;D;D;D	0.89617	-2.54;-2.54;-2.54;-2.54	5.07	5.07	0.68467	Transcription factor, T-box, conserved site (1);p53-like transcription factor, DNA-binding (1);	0.105066	0.64402	D	0.000005	T	0.79678	0.4487	N	0.20401	0.57	0.80722	D	1	B;B	0.18310	0.027;0.013	B;B	0.17098	0.017;0.004	T	0.73681	-0.3906	10	0.22706	T	0.39	.	11.0049	0.47629	0.0:0.9151:0.0:0.0849	.	69;69	Q99593-2;Q99593	.;TBX5_HUMAN	K	19;69;69;69	ENSP00000337723:E19K;ENSP00000309913:E69K;ENSP00000384152:E69K;ENSP00000433292:E69K	ENSP00000309913:E69K	E	-	1	0	TBX5	113324051	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.914000	0.69964	2.359000	0.80004	0.561000	0.74099	GAA		0.463	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388297.1	0	NM_080717		12:114839668
MAST2	23139	broad.mit.edu	37	1	46491369	46491369	+	Silent	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:46491369C>T	ENST00000361297.2	+	16	2084	c.1801C>T	c.(1801-1803)Ctg>Ttg	p.L601L	MAST2_ENST00000372009.2_Silent_p.L531L	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2											breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					TGCCACTCTGCTGAAGAATAT	0.547																																						ENST00000361297.2		NA																	0				breast(1)|lung(3)|ovary(5)|stomach(2)	11						c.(1801-1803)Ctg>Ttg		microtubule associated serine/threonine kinase 2							104.0	113.0	110.0					1																	46491369		2179	4290	6469	SO:0001819	synonymous_variant	23139				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity	g.chr1:46491369C>T	AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.1801C>T	1.37:g.46491369C>T		False	False		Somatic	0				MAST2_ENST00000372009.2_Silent_p.L531L	p.L601L	NM_015112.2	NP_055927.2	WXS	Illumina HiSeq	Phase_I	Q6P0Q8	MAST2_HUMAN			16	2084	+	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)		601			Protein kinase.			Silent	SNP	ENST00000361297.2	37	c.1801C>T	CCDS41326.1																																																																																				0.547	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021977.1	0	NM_015112		1:46491369
RREB1	6239	broad.mit.edu	37	6	7246974	7246974	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr6:7246974G>A	ENST00000349384.6	+	11	4440	c.4126G>A	c.(4126-4128)Gag>Aag	p.E1376K	RREB1_ENST00000379938.2_Missense_Mutation_p.E1431K|RREB1_ENST00000334984.6_Intron|RREB1_ENST00000379933.3_Missense_Mutation_p.E1376K	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	1376					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CAAGCTGGCGGAGGGCGACGG	0.687																																						ENST00000379938.2		NA																	0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(4291-4293)Gag>Aag		ras responsive element binding protein 1							19.0	20.0	20.0					6																	7246974		2171	4253	6424	SO:0001583	missense	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7246974G>A	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"""Zinc fingers, C2H2-type"""	10449	protein-coding gene	gene with protein product	"""hindsight homolog (drosophila)"""	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.4126G>A	6.37:g.7246974G>A	ENSP00000305560:p.Glu1376Lys	False	False		Somatic	0				RREB1_ENST00000334984.6_Intron|RREB1_ENST00000349384.6_Missense_Mutation_p.E1376K|RREB1_ENST00000379933.3_Missense_Mutation_p.E1376K	p.E1431K	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	WXS	Illumina HiSeq	Phase_I	Q92766	RREB1_HUMAN			12	4828	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	1376					A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP	ENST00000349384.6	37	c.4291G>A	CCDS34336.1	.	.	.	.	.	.	.	.	.	.	G	10.08	1.252018	0.22880	.	.	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384	T;T;T	0.11495	2.8;2.77;2.8	5.6	2.79	0.32731	.	.	.	.	.	T	0.03390	0.0098	L	0.52573	1.65	0.42564	D	0.993153	P;P	0.39022	0.524;0.655	B;B	0.30855	0.095;0.121	T	0.46857	-0.9161	9	0.29301	T	0.29	-19.3632	10.5135	0.44876	0.0679:0.2532:0.6789:0.0	.	1376;1431	Q92766;Q92766-2	RREB1_HUMAN;.	K	1376;1431;1376	ENSP00000369265:E1376K;ENSP00000369270:E1431K;ENSP00000305560:E1376K	ENSP00000305560:E1376K	E	+	1	0	RREB1	7191973	1.000000	0.71417	0.020000	0.16555	0.035000	0.12851	3.103000	0.50298	0.297000	0.22615	0.655000	0.94253	GAG		0.687	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1	0			6:7246974
ANKRD30B	374860	broad.mit.edu	37	18	14763729	14763729	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr18:14763729G>A	ENST00000358984.4	+	7	1045	c.865G>A	c.(865-867)Gaa>Aaa	p.E289K	ANKRD30B_ENST00000447268.2_Missense_Mutation_p.E289K|ANKRD30B_ENST00000579292.1_Intron	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	289										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						ACCCTTGGCGGAAAGAACACC	0.478																																						ENST00000358984.4		NA																	0				breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						c.(865-867)Gaa>Aaa		ankyrin repeat domain 30B							33.0	33.0	33.0					18																	14763729		692	1591	2283	SO:0001583	missense	374860							g.chr18:14763729G>A	BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"""Ankyrin repeat domain containing"""	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.865G>A	18.37:g.14763729G>A	ENSP00000351875:p.Glu289Lys	True	False		Somatic	0				ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Missense_Mutation_p.E289K	p.E289K	NM_001145029.1	NP_001138501.1	WXS	Illumina HiSeq	Phase_I	Q9BXX2	AN30B_HUMAN			7	1045	+			289					B4DGP1|F8WAG3|Q4G175	Missense_Mutation	SNP	ENST00000358984.4	37	c.865G>A	CCDS54182.1	.	.	.	.	.	.	.	.	.	.	N	10.19	1.282424	0.23392	.	.	ENSG00000180777	ENST00000358984;ENST00000447268	T;T	0.32023	1.52;1.47	0.235	0.235	0.15431	.	.	.	.	.	T	0.17619	0.0423	L	0.27053	0.805	0.09310	N	1	B	0.17038	0.02	B	0.11329	0.006	T	0.29181	-1.0020	8	0.20519	T	0.43	.	.	.	.	.	289	F8WAG3	.	K	289	ENSP00000351875:E289K;ENSP00000399031:E289K	ENSP00000351875:E289K	E	+	1	0	ANKRD30B	14753729	0.007000	0.16637	0.007000	0.13788	0.007000	0.05969	0.308000	0.19314	0.308000	0.22923	0.313000	0.20887	GAA		0.478	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443557.1	0	NM_001145029		18:14763729
OSBPL11	114885	broad.mit.edu	37	3	125282595	125282595	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:125282595G>A	ENST00000296220.5	-	7	1250	c.961C>T	c.(961-963)Ccg>Tcg	p.P321S		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	321					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|positive regulation of sequestering of triglyceride (GO:0010890)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)			NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						ACTGCCACCGGCTTACTCTGA	0.408																																						ENST00000296220.5		NA																	0				NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						c.(961-963)Ccg>Tcg		oxysterol binding protein-like 11							107.0	108.0	108.0					3																	125282595		2203	4300	6503	SO:0001583	missense	114885				lipid transport		lipid binding	g.chr3:125282595G>A	AF392454	CCDS3033.1	3q21	2013-01-10			ENSG00000144909	ENSG00000144909		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16397	protein-coding gene	gene with protein product		606739					Standard	NM_022776		Approved	ORP-11, ORP11, FLJ13012, FLJ13164	uc003eic.3	Q9BXB4	OTTHUMG00000159571	ENST00000296220.5:c.961C>T	3.37:g.125282595G>A	ENSP00000296220:p.Pro321Ser	False	False		Somatic	0					p.P321S	NM_022776.4	NP_073613.2	WXS	Illumina HiSeq	Phase_I	Q9BXB4	OSB11_HUMAN			7	1250	-			321					A8K9I7	Missense_Mutation	SNP	ENST00000296220.5	37	c.961C>T	CCDS3033.1	.	.	.	.	.	.	.	.	.	.	G	5.365	0.252644	0.10185	.	.	ENSG00000144909	ENST00000296220	T	0.17213	2.29	4.71	3.82	0.43975	.	0.578316	0.17514	N	0.171496	T	0.11750	0.0286	L	0.33485	1.01	0.39467	D	0.967668	B	0.10296	0.003	B	0.06405	0.002	T	0.06320	-1.0833	10	0.02654	T	1	-17.117	13.1274	0.59363	0.0:0.1607:0.8393:0.0	.	321	Q9BXB4	OSB11_HUMAN	S	321	ENSP00000296220:P321S	ENSP00000296220:P321S	P	-	1	0	OSBPL11	126765285	1.000000	0.71417	0.996000	0.52242	0.976000	0.68499	2.233000	0.43027	1.151000	0.42436	0.467000	0.42956	CCG		0.408	OSBPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356295.1	0	NM_022776		3:125282595
SIPA1L1	26037	broad.mit.edu	37	14	72055521	72055521	+	Nonsense_Mutation	SNP	C	C	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr14:72055521C>A	ENST00000555818.1	+	2	1280	c.932C>A	c.(931-933)tCa>tAa	p.S311*	SIPA1L1_ENST00000381232.3_Nonsense_Mutation_p.S311*|SIPA1L1_ENST00000358550.2_Nonsense_Mutation_p.S311*	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	311					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GGGAAGTCATCAGATCTTGAA	0.413																																						ENST00000555818.1		NA																	0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78						c.(931-933)tCa>tAa		signal-induced proliferation-associated 1 like 1							66.0	71.0	69.0					14																	72055521		2203	4300	6503	SO:0001587	stop_gained	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72055521C>A	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.932C>A	14.37:g.72055521C>A	ENSP00000450832:p.Ser311*	False	False		Somatic	0				SIPA1L1_ENST00000358550.2_Nonsense_Mutation_p.S311*|SIPA1L1_ENST00000381232.3_Nonsense_Mutation_p.S311*	p.S311*	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	WXS	Illumina HiSeq	Phase_I	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	2	1280	+			311					J3KP19|O95321|Q9UDU4|Q9UNU4	Nonsense_Mutation	SNP	ENST00000555818.1	37	c.932C>A	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	C	42	9.477020	0.99181	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550	.	.	.	6.07	6.07	0.98685	.	0.378699	0.30869	N	0.008709	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.9733	20.6593	0.99626	0.0:1.0:0.0:0.0	.	.	.	.	X	311	.	ENSP00000351352:S311X	S	+	2	0	SIPA1L1	71125274	1.000000	0.71417	0.271000	0.24616	0.037000	0.13140	7.575000	0.82447	2.885000	0.99019	0.655000	0.94253	TCA		0.413	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	0	NM_015556		14:72055521
ATP4A	495	broad.mit.edu	37	19	36043993	36043993	+	Silent	SNP	C	C	T	rs200535073		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:36043993C>T	ENST00000262623.3	-	18	2725	c.2697G>A	c.(2695-2697)gcG>gcA	p.A899A		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	899					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	CCTCCCACTGCGCCCGCAGCC	0.647																																						ENST00000262623.3		NA																	0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53						c.(2695-2697)gcG>gcA		ATPase, H+/K+ exchanging, alpha polypeptide	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)						93.0	89.0	90.0					19																	36043993		2203	4300	6503	SO:0001819	synonymous_variant	495				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	g.chr19:36043993C>T		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"""ATPases / P-type"""	819	protein-coding gene	gene with protein product	"""gastric H,K-ATPase alpha subunit"", ""H(+)-K(+)-ATPase alpha subunit"", ""proton pump"""	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.2697G>A	19.37:g.36043993C>T		False	False		Somatic	0					p.A899A	NM_000704.2	NP_000695.2	WXS	Illumina HiSeq	Phase_I	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		18	2725	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		899					O00738	Silent	SNP	ENST00000262623.3	37	c.2697G>A	CCDS12467.1																																																																																				0.647	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	0	NM_000704		19:36043993
EBPL	84650	broad.mit.edu	37	13	50235160	50235160	+	Missense_Mutation	SNP	G	G	C			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr13:50235160G>C	ENST00000242827.6	-	4	615	c.565C>G	c.(565-567)Cta>Gta	p.L189V	EBPL_ENST00000378270.5_3'UTR|EBPL_ENST00000495963.2_5'UTR|EBPL_ENST00000378272.5_3'UTR|EBPL_ENST00000378284.2_3'UTR	NM_032565.3	NP_115954.1	Q9BY08	EBPL_HUMAN	emopamil binding protein-like	189					sterol metabolic process (GO:0016125)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cholestenol delta-isomerase activity (GO:0047750)	p.L189V(9)		endometrium(8)|kidney(6)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Lung NSC(96;0.000468)|Breast(56;0.0011)|Prostate(109;0.00243)|Hepatocellular(98;0.0556)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.06e-09)		TTGAGTTCTAGCCATGACTGC	0.418																																					NSCLC(39;857 1083 36109 42364 51411)	ENST00000242827.6		NA																	9	Substitution - Missense(9)	p.L189V(9)	endometrium(6)|kidney(3)	endometrium(8)|kidney(6)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(565-567)Cta>Gta		emopamil binding protein-like							67.0	67.0	67.0					13																	50235160		2203	4300	6503	SO:0001583	missense	84650				sterol metabolic process	endoplasmic reticulum membrane|integral to membrane	cholestenol delta-isomerase activity	g.chr13:50235160G>C	AF243433	CCDS9420.1, CCDS61334.1	13q12-q13	2008-02-05			ENSG00000123179	ENSG00000123179			18061	protein-coding gene	gene with protein product							Standard	NM_032565		Approved	EBRP	uc001vdg.3	Q9BY08	OTTHUMG00000016920	ENST00000242827.6:c.565C>G	13.37:g.50235160G>C	ENSP00000242827:p.Leu189Val	False	False		Somatic	0				EBPL_ENST00000495963.2_5'UTR|EBPL_ENST00000378270.5_3'UTR|EBPL_ENST00000378272.5_3'UTR|EBPL_ENST00000378284.2_3'UTR	p.L189V	NM_032565.3	NP_115954.1	WXS	Illumina HiSeq	Phase_I	Q9BY08	EBPL_HUMAN		GBM - Glioblastoma multiforme(99;2.06e-09)	4	615	-		Lung NSC(96;0.000468)|Breast(56;0.0011)|Prostate(109;0.00243)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	189					A6NJ59|Q569H7|Q5JVN2|Q5JVN3|Q5JVN4|Q5JVN5|Q5JVN6	Missense_Mutation	SNP	ENST00000242827.6	37	c.565C>G	CCDS9420.1	.	.	.	.	.	.	.	.	.	.	C	3.076	-0.189988	0.06299	.	.	ENSG00000123179	ENST00000242827	D	0.97850	-4.57	5.61	2.84	0.33178	.	0.689671	0.14945	N	0.289287	D	0.88179	0.6367	N	0.00621	-1.32	0.80722	D	1	B	0.09022	0.002	B	0.08055	0.003	T	0.79482	-0.1785	10	0.25751	T	0.34	-0.2032	8.3049	0.32036	0.0:0.4998:0.3595:0.1406	.	189	Q9BY08	EBPL_HUMAN	V	189	ENSP00000242827:L189V	ENSP00000242827:L189V	L	-	1	2	EBPL	49133161	0.000000	0.05858	0.303000	0.25071	0.899000	0.52679	-1.071000	0.03437	0.397000	0.25310	-0.127000	0.14921	CTA		0.418	EBPL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044932.2	0	NM_032565		13:50235160
TMEM26	219623	broad.mit.edu	37	10	63170318	63170318	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr10:63170318G>A	ENST00000399298.3	-	6	1237	c.869C>T	c.(868-870)gCc>gTc	p.A290V	TMEM26_ENST00000507507.1_5'UTR	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	290						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					GTTCTTCGCGGCAAAGAACAC	0.502																																						ENST00000399298.3		NA																	0				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(868-870)gCc>gTc		transmembrane protein 26							103.0	108.0	107.0					10																	63170318		2114	4229	6343	SO:0001583	missense	219623					integral to membrane		g.chr10:63170318G>A	BC042872	CCDS41530.1	10q21.3	2008-10-20			ENSG00000196932	ENSG00000196932			28550	protein-coding gene	gene with protein product						12477932	Standard	NM_178505		Approved	MGC35010, Em:AC068892.1	uc001jlo.2	Q6ZUK4	OTTHUMG00000018293	ENST00000399298.3:c.869C>T	10.37:g.63170318G>A	ENSP00000382237:p.Ala290Val	False	False		Somatic	0				TMEM26_ENST00000507507.1_5'UTR	p.A290V	NM_178505.6	NP_848600.2	WXS	Illumina HiSeq	Phase_I	Q6ZUK4	TMM26_HUMAN			6	1237	-	Prostate(12;0.0112)		290					Q6ZVM0|Q8IVN9	Missense_Mutation	SNP	ENST00000399298.3	37	c.869C>T	CCDS41530.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.834333	0.91036	.	.	ENSG00000196932	ENST00000399298	.	.	.	5.95	5.95	0.96441	.	0.109707	0.64402	D	0.000011	T	0.66177	0.2763	L	0.33189	0.99	0.80722	D	1	D	0.63046	0.992	P	0.59012	0.85	T	0.66732	-0.5849	9	0.66056	D	0.02	-2.1204	20.3967	0.98985	0.0:0.0:1.0:0.0	.	290	Q6ZUK4	TMM26_HUMAN	V	290	.	ENSP00000382237:A290V	A	-	2	0	TMEM26	62840324	1.000000	0.71417	0.967000	0.41034	0.382000	0.30200	9.416000	0.97383	2.829000	0.97493	0.655000	0.94253	GCC		0.502	TMEM26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359121.1	0	NM_178505		10:63170318
IQCB1	9657	broad.mit.edu	37	3	121489398	121489398	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:121489398C>T	ENST00000310864.6	-	15	1805	c.1591G>A	c.(1591-1593)Gaa>Aaa	p.E531K	IQCB1_ENST00000349820.6_Missense_Mutation_p.E398K	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN	IQ motif containing B1	531					cilium assembly (GO:0042384)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)	calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)			NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30				GBM - Glioblastoma multiforme(114;0.0983)		TCTTTCCCTTCTGCCTCCTTC	0.517																																						ENST00000310864.6		NA																	0				NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30						c.(1591-1593)Gaa>Aaa		IQ motif containing B1							163.0	159.0	160.0					3																	121489398		2203	4300	6503	SO:0001583	missense	9657				cilium assembly|maintenance of organ identity|photoreceptor cell maintenance	centrosome|photoreceptor connecting cilium	calmodulin binding	g.chr3:121489398C>T	D25278	CCDS33836.1, CCDS33837.1	3q21.1	2014-01-28	2004-09-02		ENSG00000173226	ENSG00000173226			28949	protein-coding gene	gene with protein product	"""nephrocystin-5"""	609237	"""IQ calmodulin-binding motif containing 1"""			15723066	Standard	NM_001023571		Approved	KIAA0036, NPHP5, SLSN5	uc010hre.1	Q15051	OTTHUMG00000128677	ENST00000310864.6:c.1591G>A	3.37:g.121489398C>T	ENSP00000311505:p.Glu531Lys	False	False		Somatic	0				IQCB1_ENST00000349820.6_Missense_Mutation_p.E398K	p.E531K	NM_001023570.2	NP_001018864.2	WXS	Illumina HiSeq	Phase_I	Q15051	IQCB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0983)	15	1805	-			531					Q3KS08|Q3KS09|Q5DKQ7|Q8NI79|Q9BS08	Missense_Mutation	SNP	ENST00000310864.6	37	c.1591G>A	CCDS33837.1	.	.	.	.	.	.	.	.	.	.	C	10.30	1.312378	0.23908	.	.	ENSG00000173226	ENST00000310864;ENST00000349820	T;T	0.78595	-1.19;-1.19	5.34	3.4	0.38934	.	0.261904	0.42420	N	0.000712	T	0.58308	0.2113	N	0.25647	0.755	0.28325	N	0.922048	B;P	0.36837	0.002;0.571	B;B	0.36608	0.003;0.229	T	0.51268	-0.8727	10	0.08381	T	0.77	-4.0249	6.4099	0.21686	0.0:0.782:0.0:0.218	.	531;398	Q15051;Q15051-2	IQCB1_HUMAN;.	K	531;398	ENSP00000311505:E531K;ENSP00000323756:E398K	ENSP00000311505:E531K	E	-	1	0	IQCB1	122972088	0.999000	0.42202	1.000000	0.80357	0.902000	0.53008	1.277000	0.33167	1.482000	0.48325	0.650000	0.86243	GAA		0.517	IQCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250573.1	0	NM_014642		3:121489398
ATRNL1	26033	broad.mit.edu	37	10	117154220	117154220	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr10:117154220G>A	ENST00000355044.3	+	20	3353	c.3227G>A	c.(3226-3228)tGt>tAt	p.C1076Y	ATRNL1_ENST00000303745.7_5'UTR|ATRNL1_ENST00000423111.2_Missense_Mutation_p.C127Y	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1076	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		ACAGGAAAATGTTTCTGCACA	0.343																																						ENST00000355044.3		NA																	0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(3226-3228)tGt>tAt		attractin-like 1							144.0	132.0	136.0					10																	117154220		2203	4300	6503	SO:0001583	missense	26033					integral to membrane	sugar binding	g.chr10:117154220G>A	AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.3227G>A	10.37:g.117154220G>A	ENSP00000347152:p.Cys1076Tyr	True	False		Somatic	0				ATRNL1_ENST00000303745.7_5'UTR|ATRNL1_ENST00000423111.2_Missense_Mutation_p.C127Y	p.C1076Y	NM_207303.2	NP_997186.1	WXS	Illumina HiSeq	Phase_I	Q5VV63	ATRN1_HUMAN		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)	20	3353	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)	1076			Laminin EGF-like 2.		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	ENST00000355044.3	37	c.3227G>A	CCDS7592.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.4|20.4	3.976281|3.976281	0.74360|0.74360	.|.	.|.	ENSG00000107518|ENSG00000107518	ENST00000355044;ENST00000423111|ENST00000526373	T;T|.	0.62105|.	0.05;0.05|.	5.61|5.61	5.61|5.61	0.85477|0.85477	EGF-like, laminin (1);|.	0.087453|.	0.85682|.	D|.	0.000000|.	D|D	0.86531|0.86531	0.5955|0.5955	H|H	0.94222|0.94222	3.51|3.51	0.80722|0.80722	D|D	1|1	D;D|.	0.71674|.	0.998;0.998|.	D;D|.	0.78314|.	0.991;0.991|.	D|D	0.89807|0.89807	0.3979|0.3979	10|5	0.87932|.	D|.	0|.	-20.6284|-20.6284	15.1377|15.1377	0.72583|0.72583	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	127;1076|.	B4DH41;Q5VV63|.	.;ATRN1_HUMAN|.	Y|I	1076;127|159	ENSP00000347152:C1076Y;ENSP00000409624:C127Y|.	ENSP00000347152:C1076Y|.	C|M	+|+	2|3	0|0	ATRNL1|ATRNL1	117144210|117144210	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.632000|7.632000	0.83247|0.83247	2.640000|2.640000	0.89533|0.89533	0.655000|0.655000	0.94253|0.94253	TGT|ATG		0.343	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	0	XM_049349		10:117154220
NOTCH1	4851	broad.mit.edu	37	9	139412298	139412298	+	Silent	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr9:139412298G>A	ENST00000277541.6	-	8	1422	c.1347C>T	c.(1345-1347)tgC>tgT	p.C449C	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	449	EGF-like 11; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CGTCGATCTCGCATCGGGGGC	0.647			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6		NA		Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(1345-1347)tgC>tgT		notch 1							51.0	58.0	56.0					9																	139412298		2180	4271	6451	SO:0001819	synonymous_variant	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139412298G>A	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.1347C>T	9.37:g.139412298G>A		False	False	HNSCC(8;0.001)	Somatic	0					p.C449C	NM_017617.3	NP_060087.3	WXS	Illumina HiSeq	Phase_I	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	8	1422	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	449			EGF-like 11; calcium-binding (Potential).		Q59ED8|Q5SXM3	Silent	SNP	ENST00000277541.6	37	c.1347C>T	CCDS43905.1																																																																																				0.647	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	0	NM_017617		9:139412298
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	False	False	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)	Somatic	0				KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	p.G12D	NM_004985.3	NP_004976.2	WXS	Illumina HiSeq	Phase_I	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	0	NM_033360		12:25398284
CDHR2	54825	broad.mit.edu	37	5	176008451	176008451	+	Silent	SNP	C	C	G			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:176008451C>G	ENST00000510636.1	+	17	2200	c.1926C>G	c.(1924-1926)ctC>ctG	p.L642L	CDHR2_ENST00000506348.1_Silent_p.L642L|CDHR2_ENST00000261944.5_Silent_p.L642L	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	642	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						CAGGGCTCCTCAGAAACCTGG	0.627																																						ENST00000510636.1		NA																	0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						c.(1924-1926)ctC>ctG		cadherin-related family member 2							54.0	53.0	53.0					5																	176008451		2203	4300	6503	SO:0001819	synonymous_variant	54825				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding	g.chr5:176008451C>G	AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"""Cadherins / Cadherin-related"""	18231	protein-coding gene	gene with protein product	"""protocadherin LKC"""		"""protocadherin 24"""	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.1926C>G	5.37:g.176008451C>G		False	False		Somatic	0				CDHR2_ENST00000506348.1_Silent_p.L642L|CDHR2_ENST00000261944.5_Silent_p.L642L	p.L642L	NM_001171976.1	NP_001165447.1	WXS	Illumina HiSeq	Phase_I	Q9BYE9	CDHR2_HUMAN			17	2200	+			642			Cadherin 6.		A1L3U4|A6NC80|Q9NXP8	Silent	SNP	ENST00000510636.1	37	c.1926C>G	CCDS34297.1																																																																																				0.627	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	0	NM_017675		5:176008451
TTN	7273	broad.mit.edu	37	2	179641336	179641336	+	Missense_Mutation	SNP	C	C	T	rs150737838		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr2:179641336C>T	ENST00000591111.1	-	28	5479	c.5255G>A	c.(5254-5256)cGt>cAt	p.R1752H	TTN_ENST00000360870.5_Missense_Mutation_p.R1752H|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R1706H|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R1752H|TTN_ENST00000342992.6_Missense_Mutation_p.R1752H|TTN_ENST00000359218.5_Missense_Mutation_p.R1706H|TTN_ENST00000460472.2_Missense_Mutation_p.R1706H|TTN-AS1_ENST00000584485.1_RNA|TTN-AS1_ENST00000610005.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12584	Ig-like 8.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTGATCATACGGAGCCTGTT	0.478													C|||	1	0.000199681	0.0	0.0	5008	,	,		19405	0.0		0.001	False		,,,				2504	0.0					ENST00000589042.1		NA																	0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(5254-5256)cGt>cAt		titin							69.0	62.0	64.0					2																	179641336		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179641336C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.5255G>A	2.37:g.179641336C>T	ENSP00000465570:p.Arg1752His	False	False		Somatic	0				TTN_ENST00000342992.6_Missense_Mutation_p.R1752H|TTN_ENST00000360870.5_Missense_Mutation_p.R1752H|TTN_ENST00000359218.5_Missense_Mutation_p.R1706H|TTN_ENST00000342175.6_Missense_Mutation_p.R1706H|TTN_ENST00000591111.1_Missense_Mutation_p.R1752H|TTN_ENST00000460472.2_Missense_Mutation_p.R1706H	p.R1752H	NM_001267550.1	NP_001254479.1	WXS	Illumina HiSeq	Phase_I	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		28	5479	-			1505			Ig-like 8.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.5255G>A		1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	13.20	2.166946	0.38217	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33;-0.33	5.05	5.05	0.67936	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.76877	0.4049	L	0.41079	1.255	0.38775	D	0.954622	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999	T	0.80984	-0.1138	9	0.87932	D	0	.	18.3911	0.90484	0.0:1.0:0.0:0.0	.	1706;1706;1706;1752;1752	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	H	1752;1706;1706;1706;1706;1752	ENSP00000343764:R1752H;ENSP00000434586:R1706H;ENSP00000340554:R1706H;ENSP00000352154:R1706H;ENSP00000354117:R1752H	ENSP00000340554:R1706H	R	-	2	0	TTN	179349581	1.000000	0.71417	0.980000	0.43619	0.972000	0.66771	4.864000	0.62990	2.363000	0.80096	0.561000	0.74099	CGT		0.478	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	0	NM_133378		2:179641336
PAXBP1	94104	broad.mit.edu	37	21	34132185	34132185	+	Missense_Mutation	SNP	T	T	C			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr21:34132185T>C	ENST00000331923.4	-	6	1285	c.1096A>G	c.(1096-1098)Aaa>Gaa	p.K366E	PAXBP1_ENST00000472588.1_5'UTR|PAXBP1_ENST00000290178.4_Missense_Mutation_p.K366E	NM_016631.3	NP_057715.2	Q9Y5B6	PAXB1_HUMAN	PAX3 and PAX7 binding protein 1	366					muscle organ development (GO:0007517)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of satellite cell proliferation (GO:0014842)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TTTTGAGATTTGGCATCTGAT	0.388																																						ENST00000331923.4		NA																	0					NA						c.(1096-1098)Aaa>Gaa		PAX3 and PAX7 binding protein 1							169.0	170.0	170.0					21																	34132185		2203	4300	6503	SO:0001583	missense	94104							g.chr21:34132185T>C	AF231920	CCDS13619.1, CCDS33541.1	21q22.11	2014-01-23	2013-01-08	2013-01-08	ENSG00000159086	ENSG00000159086			13579	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 105"", ""GC-rich sequence DNA-binding factor candidate"""		"""chromosome 21 open reading frame 66"", ""GC-rich sequence DNA-binding factor 1"""	C21orf66, GCFC1		11707072, 22862948	Standard	NM_016631		Approved	GCFC, fSAP105	uc002yqn.3	Q9Y5B6	OTTHUMG00000064980	ENST00000331923.4:c.1096A>G	21.37:g.34132185T>C	ENSP00000328992:p.Lys366Glu	True	False		Somatic	0				PAXBP1_ENST00000472588.1_5'UTR|PAXBP1_ENST00000290178.4_Missense_Mutation_p.K366E	p.K366E	NM_016631.3	NP_057715.2	WXS	Illumina HiSeq	Phase_I					6	1285	-			NA					D3DSE7|Q96DU8|Q9NYQ0	Missense_Mutation	SNP	ENST00000331923.4	37	c.1096A>G	CCDS13619.1	.	.	.	.	.	.	.	.	.	.	T	18.29	3.592408	0.66219	.	.	ENSG00000159086	ENST00000331923;ENST00000290178	T;T	0.32272	1.88;1.46	5.79	5.79	0.91817	.	0.155205	0.56097	D	0.000026	T	0.43344	0.1243	L	0.40543	1.245	0.58432	D	0.999999	D;P	0.71674	0.998;0.664	D;B	0.78314	0.991;0.201	T	0.17289	-1.0374	10	0.08381	T	0.77	-26.3017	15.7939	0.78394	0.0:0.0:0.0:1.0	.	366;366	Q9Y5B6-2;Q9Y5B6	.;GCFC1_HUMAN	E	366	ENSP00000328992:K366E;ENSP00000290178:K366E	ENSP00000290178:K366E	K	-	1	0	GCFC1	33054056	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.748000	0.68697	2.219000	0.72066	0.460000	0.39030	AAA		0.388	PAXBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139563.1	0	NM_013329		21:34132185
CEP63	80254	broad.mit.edu	37	3	134278028	134278028	+	Missense_Mutation	SNP	G	G	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:134278028G>T	ENST00000337090.3	+	14	1883	c.1710G>T	c.(1708-1710)aaG>aaT	p.K570N	CEP63_ENST00000354446.3_Intron|CEP63_ENST00000513612.2_Missense_Mutation_p.K570N|CEP63_ENST00000383229.3_Intron|CEP63_ENST00000606977.1_Missense_Mutation_p.K570N|CEP63_ENST00000332047.5_Intron			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa	570					centriole replication (GO:0007099)|DNA damage checkpoint (GO:0000077)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|signal transduction in response to DNA damage (GO:0042770)|spindle assembly (GO:0051225)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|spindle pole (GO:0000922)				kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						ATGGAATAAAGACTGAGCACT	0.423																																						ENST00000337090.3		NA																	0				kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(1708-1710)aaG>aaT		centrosomal protein 63kDa							136.0	135.0	135.0					3																	134278028		2203	4300	6503	SO:0001583	missense	80254				cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding	g.chr3:134278028G>T	AK056465	CCDS3086.1, CCDS43152.1, CCDS43153.1, CCDS43154.1	3q22.1	2014-02-20			ENSG00000182923	ENSG00000182923			25815	protein-coding gene	gene with protein product		614724				14654843, 24240477	Standard	NM_001042383		Approved	FLJ13386	uc003eqo.1	Q96MT8	OTTHUMG00000159725	ENST00000337090.3:c.1710G>T	3.37:g.134278028G>T	ENSP00000336524:p.Lys570Asn	True	False		Somatic	0				CEP63_ENST00000383229.3_Intron|CEP63_ENST00000332047.5_Intron|CEP63_ENST00000606977.1_Missense_Mutation_p.K570N|CEP63_ENST00000354446.3_Intron|CEP63_ENST00000513612.2_Missense_Mutation_p.K570N	p.K570N			WXS	Illumina HiSeq	Phase_I	Q96MT8	CEP63_HUMAN			14	1883	+			570					D3DND8|D3DND9|D3DNE0|Q96CR0|Q9H8F5|Q9H8N0	Missense_Mutation	SNP	ENST00000337090.3	37	c.1710G>T	CCDS3086.1	.	.	.	.	.	.	.	.	.	.	G	12.46	1.944889	0.34283	.	.	ENSG00000182923	ENST00000337090;ENST00000513612	T;T	0.18338	2.22;2.22	4.77	3.89	0.44902	.	0.724271	0.12624	N	0.452796	T	0.17238	0.0414	L	0.44542	1.39	0.32265	N	0.569604	P	0.44429	0.835	P	0.44990	0.466	T	0.02339	-1.1174	10	0.25751	T	0.34	-11.6316	8.2011	0.31426	0.1056:0.0:0.8944:0.0	.	570	Q96MT8	CEP63_HUMAN	N	570	ENSP00000336524:K570N;ENSP00000426129:K570N	ENSP00000336524:K570N	K	+	3	2	CEP63	135760718	1.000000	0.71417	0.880000	0.34516	0.885000	0.51271	1.319000	0.33655	2.611000	0.88343	0.650000	0.86243	AAG		0.423	CEP63-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000470139.1	0	NM_025180		3:134278028
KIAA1217	56243	broad.mit.edu	37	10	24825794	24825794	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr10:24825794G>A	ENST00000376454.3	+	17	3536	c.3506G>A	c.(3505-3507)gGc>gAc	p.G1169D	KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000376451.2_Missense_Mutation_p.G852D|KIAA1217_ENST00000396445.1_Missense_Mutation_p.G852D|KIAA1217_ENST00000458595.1_Missense_Mutation_p.G1134D|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000376452.3_Missense_Mutation_p.G1133D|KIAA1217_ENST00000307544.6_Missense_Mutation_p.G852D	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1169					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						ACTAGGTCGGGCGCCACAGTG	0.512																																						ENST00000376451.2		NA																	0				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						c.(2554-2556)gGc>gAc		KIAA1217							94.0	80.0	85.0					10																	24825794		2203	4300	6503	SO:0001583	missense	56243				embryonic skeletal system development	cytoplasm		g.chr10:24825794G>A	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.3506G>A	10.37:g.24825794G>A	ENSP00000365637:p.Gly1169Asp	True	False		Somatic	0				KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000396445.1_Missense_Mutation_p.G852D|KIAA1217_ENST00000376454.3_Missense_Mutation_p.G1169D|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000376452.3_Missense_Mutation_p.G1133D|KIAA1217_ENST00000458595.1_Missense_Mutation_p.G1134D|KIAA1217_ENST00000307544.6_Missense_Mutation_p.G852D	p.G852D			WXS	Illumina HiSeq	Phase_I	Q5T5P2	SKT_HUMAN			12	2815	+			1169					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP	ENST00000376454.3	37	c.2555G>A	CCDS31165.1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.814941	0.50527	.	.	ENSG00000120549	ENST00000458595;ENST00000442879;ENST00000376454;ENST00000376452;ENST00000307544;ENST00000450158;ENST00000396445;ENST00000376451	T;T;T;T;T;T	0.56275	1.1;1.47;1.08;0.54;0.47;0.97	5.62	4.66	0.58398	.	0.130328	0.51477	D	0.000091	T	0.66684	0.2814	M	0.68593	2.085	0.45662	D	0.998584	D;D;D;D;D;D	0.89917	0.996;1.0;0.999;0.999;0.968;0.999	P;D;D;D;P;D	0.75020	0.9;0.974;0.985;0.963;0.733;0.964	T	0.66736	-0.5848	10	0.51188	T	0.08	.	10.0223	0.42051	0.0:0.1282:0.6268:0.2451	.	1134;1133;852;852;852;1169	Q5T5P2-7;A6NLF3;Q5T5P2-8;Q5T5P2-3;Q5T5P2-6;Q5T5P2	.;.;.;.;.;SKT_HUMAN	D	1134;852;1169;1133;852;852;852;852	ENSP00000392625:G1134D;ENSP00000365637:G1169D;ENSP00000365635:G1133D;ENSP00000302343:G852D;ENSP00000379722:G852D;ENSP00000365634:G852D	ENSP00000302343:G852D	G	+	2	0	KIAA1217	24865800	1.000000	0.71417	1.000000	0.80357	0.154000	0.21943	4.623000	0.61247	2.646000	0.89796	0.655000	0.94253	GGC		0.512	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	0	NM_019590		10:24825794
ESRP2	80004	broad.mit.edu	37	16	68265495	68265495	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr16:68265495G>A	ENST00000565858.1	-	11	1518	c.1432C>T	c.(1432-1434)Cgc>Tgc	p.R478C	ESRP2_ENST00000473183.2_Missense_Mutation_p.R468C|RP11-96D1.11_ENST00000571197.1_RNA	NM_024939.2	NP_079215.2	Q9H6T0	ESRP2_HUMAN	epithelial splicing regulatory protein 2	478	RRM 3.				mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						CCTCGGAGGCGTACACAGTCC	0.622																																						ENST00000473183.2		NA																	0				NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						c.(1402-1404)Cgc>Tgc		epithelial splicing regulatory protein 2							90.0	78.0	82.0					16																	68265495		2198	4300	6498	SO:0001583	missense	80004				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding|nucleotide binding	g.chr16:68265495G>A	AK025571	CCDS10863.1	16q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000103067	ENSG00000103067		"""RNA binding motif (RRM) containing"""	26152	protein-coding gene	gene with protein product		612960	"""RNA binding motif protein 35B"""	RBM35B		12477932	Standard	NM_024939		Approved	FLJ21918	uc002evq.1	Q9H6T0	OTTHUMG00000137557	ENST00000565858.1:c.1432C>T	16.37:g.68265495G>A	ENSP00000454554:p.Arg478Cys	False	False		Somatic	0				ESRP2_ENST00000565858.1_Missense_Mutation_p.R478C	p.R468C			WXS	Illumina HiSeq	Phase_I	Q9H6T0	ESRP2_HUMAN			11	1940	-			478					Q8N6H8|Q8WZ15|Q9H6I4	Missense_Mutation	SNP	ENST00000565858.1	37	c.1402C>T		.	.	.	.	.	.	.	.	.	.	G	20.6	4.012624	0.75161	.	.	ENSG00000103067	ENST00000473183	T	0.09163	3.01	5.93	5.93	0.95920	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.000000	0.85682	D	0.000000	T	0.52500	0.1738	H	0.97291	3.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.69105	-0.5233	10	0.87932	D	0	-15.6647	20.3437	0.98782	0.0:0.0:1.0:0.0	.	478;468	Q9H6T0;Q9H6T0-2	ESRP2_HUMAN;.	C	468	ENSP00000418748:R468C	ENSP00000418748:R468C	R	-	1	0	ESRP2	66822996	1.000000	0.71417	0.999000	0.59377	0.909000	0.53808	6.459000	0.73513	2.815000	0.96918	0.561000	0.74099	CGC		0.622	ESRP2-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000433083.1	0	NM_024939		16:68265495
PTDSS2	81490	broad.mit.edu	37	11	473950	473950	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr11:473950G>A	ENST00000308020.5	+	3	516	c.340G>A	c.(340-342)Gac>Aac	p.D114N	PTDSS2_ENST00000530087.1_3'UTR	NM_030783.1	NP_110410.1	Q9BVG9	PTSS2_HUMAN	phosphatidylserine synthase 2	114					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	CDP-diacylglycerol-serine O-phosphatidyltransferase activity (GO:0003882)			autonomic_ganglia(1)|breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1)	9		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735)	Phosphatidylserine(DB00144)	ACAAGCTAAAGACGGGCCATT	0.483																																						ENST00000308020.5		NA																	0				autonomic_ganglia(1)|breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1)	9						c.(340-342)Gac>Aac		phosphatidylserine synthase 2	Phosphatidylserine(DB00144)						324.0	252.0	276.0					11																	473950		2203	4300	6503	SO:0001583	missense	81490					integral to membrane		g.chr11:473950G>A	BC001210	CCDS7696.1	11p15	2008-05-02			ENSG00000174915	ENSG00000174915			15463	protein-coding gene	gene with protein product		612793				14984733	Standard	NM_030783		Approved	PSS2	uc001lpj.3	Q9BVG9	OTTHUMG00000119087	ENST00000308020.5:c.340G>A	11.37:g.473950G>A	ENSP00000308258:p.Asp114Asn	True	False		Somatic	0				PTDSS2_ENST00000530087.1_3'UTR	p.D114N	NM_030783.1	NP_110410.1	WXS	Illumina HiSeq	Phase_I	Q9BVG9	PTSS2_HUMAN		all cancers(45;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735)	3	516	+		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	114						Missense_Mutation	SNP	ENST00000308020.5	37	c.340G>A	CCDS7696.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.281337	0.80692	.	.	ENSG00000174915	ENST00000308020	.	.	.	5.12	5.12	0.69794	.	0.059306	0.64402	D	0.000003	T	0.33147	0.0853	N	0.11341	0.13	0.58432	D	0.999999	P	0.38617	0.64	B	0.32465	0.146	T	0.20107	-1.0285	9	0.30078	T	0.28	-23.8077	17.6882	0.88262	0.0:0.0:1.0:0.0	.	114	Q9BVG9	PTSS2_HUMAN	N	114	.	ENSP00000308258:D114N	D	+	1	0	PTDSS2	463950	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.943000	0.92975	2.545000	0.85829	0.462000	0.41574	GAC		0.483	PTDSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239301.2	0			11:473950
SIPA1L1	26037	broad.mit.edu	37	14	72055165	72055165	+	Missense_Mutation	SNP	C	C	G			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr14:72055165C>G	ENST00000555818.1	+	2	924	c.576C>G	c.(574-576)atC>atG	p.I192M	SIPA1L1_ENST00000381232.3_Missense_Mutation_p.I192M|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.I192M	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	192					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		ATGAATGTATCTCACCTACAT	0.433																																						ENST00000555818.1		NA																	0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78						c.(574-576)atC>atG		signal-induced proliferation-associated 1 like 1							142.0	123.0	129.0					14																	72055165		2203	4300	6503	SO:0001583	missense	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72055165C>G	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.576C>G	14.37:g.72055165C>G	ENSP00000450832:p.Ile192Met	False	False		Somatic	0				SIPA1L1_ENST00000358550.2_Missense_Mutation_p.I192M|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.I192M	p.I192M	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	WXS	Illumina HiSeq	Phase_I	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	2	924	+			192					J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	ENST00000555818.1	37	c.576C>G	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	C	6.533	0.466533	0.12402	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550	T;T;T	0.42900	0.96;0.96;0.96	5.72	4.83	0.62350	.	0.295385	0.42420	D	0.000709	T	0.21761	0.0524	N	0.08118	0	0.80722	D	1	B;B;B	0.22480	0.07;0.027;0.001	B;B;B	0.18561	0.014;0.022;0.002	T	0.06285	-1.0835	10	0.49607	T	0.09	-26.514	8.1671	0.31233	0.0:0.7296:0.1368:0.1336	.	192;192;192	A6H8W6;O43166-2;O43166	.;.;SI1L1_HUMAN	M	192	ENSP00000370630:I192M;ENSP00000450832:I192M;ENSP00000351352:I192M	ENSP00000351352:I192M	I	+	3	3	SIPA1L1	71124918	0.958000	0.32768	1.000000	0.80357	0.817000	0.46193	0.113000	0.15499	2.689000	0.91719	0.655000	0.94253	ATC		0.433	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	0	NM_015556		14:72055165
MYLK3	91807	broad.mit.edu	37	16	46781922	46781922	+	Missense_Mutation	SNP	G	G	A	rs200653944		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr16:46781922G>A	ENST00000394809.4	-	1	299	c.184C>T	c.(184-186)Cgg>Tgg	p.R62W	MYLK3_ENST00000536476.1_Intron	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	62					cardiac myofibril assembly (GO:0055003)|cellular response to interleukin-1 (GO:0071347)|positive regulation of sarcomere organization (GO:0060298)|protein phosphorylation (GO:0006468)|regulation of vascular permeability involved in acute inflammatory response (GO:0002528)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)	p.R62W(2)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				TGCAGGCCCCGCTCCAGGTGG	0.652													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17468	0.0		0.0	False		,,,				2504	0.0					ENST00000394809.4		NA																	2	Substitution - Missense(2)	p.R62W(2)	prostate(2)	central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37						c.(184-186)Cgg>Tgg		myosin light chain kinase 3		G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	37.0	39.0	39.0		184	1.7	1.0	16		39	1,8599	1.2+/-3.3	0,1,4299	yes	missense	MYLK3	NM_182493.2	101	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	possibly-damaging	62/820	46781922	2,13004	2203	4300	6503	SO:0001583	missense	91807				cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	g.chr16:46781922G>A	AJ247087	CCDS10723.2	16q11.2	2008-10-23			ENSG00000140795	ENSG00000140795			29826	protein-coding gene	gene with protein product	"""MLC kinase"""	612147				17885681	Standard	NM_182493		Approved	caMLCK, MLCK	uc002eei.4	Q32MK0	OTTHUMG00000132543	ENST00000394809.4:c.184C>T	16.37:g.46781922G>A	ENSP00000378288:p.Arg62Trp	True	False		Somatic	0				MYLK3_ENST00000536476.1_Intron	p.R62W	NM_182493.2	NP_872299.2	WXS	Illumina HiSeq	Phase_I	Q32MK0	MYLK3_HUMAN			1	299	-		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)	62					B5BUL9|B7Z5U8|Q32MK1|Q96DV1	Missense_Mutation	SNP	ENST00000394809.4	37	c.184C>T	CCDS10723.2	.	.	.	.	.	.	.	.	.	.	G	11.63	1.694724	0.30052	2.27E-4	1.16E-4	ENSG00000140795	ENST00000394809	T	0.73152	-0.72	5.09	1.66	0.24008	.	0.248315	0.21157	N	0.079230	T	0.61022	0.2314	L	0.29908	0.895	0.09310	N	0.999997	D	0.63880	0.993	P	0.47470	0.548	T	0.55854	-0.8075	10	0.72032	D	0.01	.	9.4835	0.38915	0.0:0.1113:0.4457:0.443	.	62	Q32MK0	MYLK3_HUMAN	W	62	ENSP00000378288:R62W	ENSP00000378288:R62W	R	-	1	2	MYLK3	45339423	0.991000	0.36638	0.963000	0.40424	0.003000	0.03518	0.984000	0.29565	0.466000	0.27193	-0.500000	0.04577	CGG		0.652	MYLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255743.2	0	NM_182493		16:46781922
DGKQ	1609	broad.mit.edu	37	4	954958	954958	+	Missense_Mutation	SNP	A	A	G			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr4:954958A>G	ENST00000273814.3	-	22	2679	c.2606T>C	c.(2605-2607)aTc>aCc	p.I869T	DGKQ_ENST00000502309.1_5'Flank	NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	869					blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|protein kinase C signaling (GO:0070528)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to ATP (GO:0033198)|thrombin receptor signaling pathway (GO:0070493)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|phospholipase binding (GO:0043274)			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GGCAATCCGGATTCCGGAGCG	0.726																																					Esophageal Squamous(17;537 645 4447 26373)	ENST00000273814.3		NA																	0				breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9						c.(2605-2607)aTc>aCc		diacylglycerol kinase, theta 110kDa							27.0	34.0	31.0					4																	954958		2193	4298	6491	SO:0001583	missense	1609				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding	g.chr4:954958A>G	L38707	CCDS3342.1	4p16.3	2008-08-29	2002-08-29		ENSG00000145214	ENSG00000145214			2856	protein-coding gene	gene with protein product		601207	"""diacylglycerol kinase, theta (110kD)"""	DAGK4		8617502, 9099683	Standard	NM_001347		Approved	DAGK, DAGK7	uc003gbw.4	P52824	OTTHUMG00000088629	ENST00000273814.3:c.2606T>C	4.37:g.954958A>G	ENSP00000273814:p.Ile869Thr	False	False		Somatic	0					p.I869T	NM_001347.3	NP_001338.2	WXS	Illumina HiSeq	Phase_I	P52824	DGKQ_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		22	2679	-			869					Q6P3W4	Missense_Mutation	SNP	ENST00000273814.3	37	c.2606T>C	CCDS3342.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.63|17.63	3.437655|3.437655	0.62955|0.62955	.|.	.|.	ENSG00000145214|ENSG00000145214	ENST00000273814;ENST00000515182|ENST00000509465	T;T|.	0.47177|.	0.85;0.85|.	5.29|5.29	5.29|5.29	0.74685|0.74685	Diacylglycerol kinase, accessory domain (2);|.	0.049071|.	0.85682|.	D|.	0.000000|.	T|T	0.57681|0.57681	0.2070|0.2070	L|L	0.39633|0.39633	1.23|1.23	0.58432|0.58432	D|D	0.999999|0.999999	D;D|.	0.89917|.	0.996;1.0|.	D;D|.	0.77557|.	0.967;0.99|.	T|T	0.55062|0.55062	-0.8199|-0.8199	10|5	0.44086|.	T|.	0.13|.	.|.	13.1628|13.1628	0.59554|0.59554	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	869;869|.	E9KL49;P52824|.	.;DGKQ_HUMAN|.	T|P	869;84|803	ENSP00000273814:I869T;ENSP00000421756:I84T|.	ENSP00000273814:I869T|.	I|S	-|-	2|1	0|0	DGKQ|DGKQ	944958|944958	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.825000|0.825000	0.46686|0.46686	5.430000|5.430000	0.66501|0.66501	2.008000|2.008000	0.58898|0.58898	0.454000|0.454000	0.30748|0.30748	ATC|TCC		0.726	DGKQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000200888.1	0			4:954958
CEP72	55722	broad.mit.edu	37	5	633946	633946	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:633946C>T	ENST00000264935.5	+	5	665	c.575C>T	c.(574-576)gCg>gTg	p.A192V	CEP72_ENST00000444221.1_Intron	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	192					G2/M transition of mitotic cell cycle (GO:0000086)|gamma-tubulin complex localization (GO:0033566)|mitotic cell cycle (GO:0000278)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			GTCATGGATGCGGATGACGAG	0.612																																						ENST00000264935.5		NA																	0				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20						c.(574-576)gCg>gTg		centrosomal protein 72kDa							132.0	133.0	133.0					5																	633946		2203	4300	6503	SO:0001583	missense	55722				G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol		g.chr5:633946C>T	BC000132	CCDS34126.1	5p15.33	2014-02-20			ENSG00000112877	ENSG00000112877			25547	protein-coding gene	gene with protein product						10819331	Standard	NM_018140		Approved	KIAA1519, FLJ10565	uc003jbf.3	Q9P209	OTTHUMG00000161745	ENST00000264935.5:c.575C>T	5.37:g.633946C>T	ENSP00000264935:p.Ala192Val	False	False		Somatic	0				CEP72_ENST00000444221.1_Intron	p.A192V	NM_018140.3	NP_060610.2	WXS	Illumina HiSeq	Phase_I	Q9P209	CEP72_HUMAN	Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)		5	665	+			192					B4DR26|Q9BV03|Q9BWM3|Q9NVR4	Missense_Mutation	SNP	ENST00000264935.5	37	c.575C>T	CCDS34126.1	.	.	.	.	.	.	.	.	.	.	C	8.455	0.854063	0.17106	.	.	ENSG00000112877	ENST00000264935	T	0.09911	2.93	5.14	2.14	0.27477	.	0.406531	0.25458	N	0.030523	T	0.11410	0.0278	M	0.65975	2.015	0.29054	N	0.884302	B	0.15473	0.013	B	0.12837	0.008	T	0.09662	-1.0664	10	0.40728	T	0.16	-11.1821	6.2359	0.20762	0.4236:0.4884:0.0:0.088	.	192	Q9P209	CEP72_HUMAN	V	192	ENSP00000264935:A192V	ENSP00000264935:A192V	A	+	2	0	CEP72	686946	0.023000	0.18921	0.021000	0.16686	0.247000	0.25773	0.787000	0.26858	0.650000	0.30769	-0.355000	0.07637	GCG		0.612	CEP72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365967.3	0	NM_018140		5:633946
SLIT3	6586	broad.mit.edu	37	5	168175367	168175367	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:168175367C>T	ENST00000519560.1	-	20	2629	c.2210G>A	c.(2209-2211)cGa>cAa	p.R737Q	SLIT3_ENST00000332966.8_Missense_Mutation_p.R737Q|SLIT3_ENST00000404867.3_Missense_Mutation_p.R737Q	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	737	LRRNT 4.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTTGCTGCATCGCACCACTGT	0.642																																					Ovarian(29;311 847 10864 17279 24903)	ENST00000519560.1		NA																	0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(2209-2211)cGa>cAa		slit homolog 3 (Drosophila)							72.0	71.0	71.0					5																	168175367		2203	4300	6503	SO:0001583	missense	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168175367C>T	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.2210G>A	5.37:g.168175367C>T	ENSP00000430333:p.Arg737Gln	False	False		Somatic	0				SLIT3_ENST00000332966.8_Missense_Mutation_p.R737Q|SLIT3_ENST00000404867.3_Missense_Mutation_p.R737Q	p.R737Q	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	WXS	Illumina HiSeq	Phase_I	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		20	2629	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	737			LRRNT 4.		A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	ENST00000519560.1	37	c.2210G>A	CCDS4369.1	.	.	.	.	.	.	.	.	.	.	c	36	5.620461	0.96660	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	D;D;D	0.95918	-3.85;-3.85;-3.85	5.3	5.3	0.74995	Leucine-rich repeat-containing N-terminal (2);	0.167150	0.53938	D	0.000050	D	0.96442	0.8839	L	0.38692	1.165	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.97301	0.9931	10	0.87932	D	0	.	19.0096	0.92868	0.0:1.0:0.0:0.0	.	737	O75094	SLIT3_HUMAN	Q	737	ENSP00000430333:R737Q;ENSP00000332164:R737Q;ENSP00000384890:R737Q	ENSP00000332164:R737Q	R	-	2	0	SLIT3	168107945	1.000000	0.71417	0.954000	0.39281	0.894000	0.52154	7.485000	0.81204	2.483000	0.83821	0.550000	0.68814	CGA		0.642	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	0	NM_003062		5:168175367
MICU3	286097	broad.mit.edu	37	8	16963071	16963071	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr8:16963071G>A	ENST00000318063.5	+	11	1277	c.1235G>A	c.(1234-1236)cGt>cAt	p.R412H	MICU3_ENST00000519866.1_3'UTR	NM_181723.2	NP_859074.1	Q86XE3	MICU3_HUMAN	mitochondrial calcium uptake family, member 3	412	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)	p.R412H(1)									GAAAATGTGCGTTACAGTATA	0.318																																						ENST00000318063.5		NA																	1	Substitution - Missense(1)	p.R412H(1)	large_intestine(1)		NA						c.(1234-1236)cGt>cAt		mitochondrial calcium uptake family, member 3							58.0	60.0	59.0					8																	16963071		2198	4296	6494	SO:0001583	missense	286097							g.chr8:16963071G>A	BC032868	CCDS5999.1	8p22	2013-03-26	2013-03-26	2013-03-14	ENSG00000155970	ENSG00000155970		"""EF-hand domain containing"""	27820	protein-coding gene	gene with protein product		610633	"""EF hand domain family A2"", ""EF-hand domain family, member A2"""	EFHA2		23409044	Standard	NM_181723		Approved	DKFZp313A0139	uc003wxd.2	Q86XE3	OTTHUMG00000096965	ENST00000318063.5:c.1235G>A	8.37:g.16963071G>A	ENSP00000321455:p.Arg412His	False	False		Somatic	0				MICU3_ENST00000519866.1_3'UTR	p.R412H	NM_181723.2	NP_859074.1	WXS	Illumina HiSeq	Phase_I					11	1277	+			NA					Q8IYZ3	Missense_Mutation	SNP	ENST00000318063.5	37	c.1235G>A	CCDS5999.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.47|13.47	2.245739|2.245739	0.39697|0.39697	.|.	.|.	ENSG00000155970|ENSG00000155970	ENST00000318063|ENST00000519044	T|.	0.29397|.	1.57|.	4.99|4.99	4.11|4.11	0.48088|0.48088	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.53981|0.53981	0.1830|0.1830	L|L	0.38175|0.38175	1.15|1.15	0.80722|0.80722	D|D	1|1	B|.	0.24618|.	0.107|.	B|.	0.12156|.	0.007|.	T|T	0.50065|0.50065	-0.8871|-0.8871	10|5	0.44086|.	T|.	0.13|.	-6.0062|-6.0062	11.508|11.508	0.50479|0.50479	0.1483:0.0:0.8517:0.0|0.1483:0.0:0.8517:0.0	.|.	412|.	Q86XE3|.	EFHA2_HUMAN|.	H|I	412|257	ENSP00000321455:R412H|.	ENSP00000321455:R412H|.	R|V	+|+	2|1	0|0	EFHA2|EFHA2	17007442|17007442	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.353000|5.353000	0.66034|0.66034	1.409000|1.409000	0.46915|0.46915	0.650000|0.650000	0.86243|0.86243	CGT|GTT		0.318	MICU3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214031.1	0	NM_181723		8:16963071
NF1	4763	broad.mit.edu	37	17	29665118	29665118	+	Silent	SNP	T	T	G			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr17:29665118T>G	ENST00000358273.4	+	45	7163	c.6780T>G	c.(6778-6780)tcT>tcG	p.S2260S	NF1_ENST00000356175.3_Silent_p.S2239S|NF1_ENST00000417592.2_Intron|NF1_ENST00000444181.2_Silent_p.S53S	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2260					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AACGAGTGTCTCATGGGCAGA	0.403			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4		NA	yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	11	Whole gene deletion(8)|Unknown(3)	p.0?(8)|p.?(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(6778-6780)tcT>tcG		neurofibromin 1							161.0	154.0	156.0					17																	29665118		2203	4300	6503	SO:0001819	synonymous_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29665118T>G		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.6780T>G	17.37:g.29665118T>G		False	False	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)	Somatic	0				NF1_ENST00000444181.2_Silent_p.S53S|NF1_ENST00000417592.2_Intron|NF1_ENST00000356175.3_Silent_p.S2239S	p.S2260S	NM_001042492.2	NP_001035957.1	WXS	Illumina HiSeq	Phase_I	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	45	7163	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	2260					O00662|Q14284|Q14930|Q14931|Q9UMK3	Silent	SNP	ENST00000358273.4	37	c.6780T>G	CCDS42292.1																																																																																				0.403	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	0	NM_000267		17:29665118
VPS25	84313	broad.mit.edu	37	17	40925889	40925889	+	Missense_Mutation	SNP	G	G	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr17:40925889G>T	ENST00000253794.2	+	2	232	c.192G>T	c.(190-192)aaG>aaT	p.K64N		NM_032353.2	NP_115729.1	Q9BRG1	VPS25_HUMAN	vacuolar protein sorting 25 homolog (S. cerevisiae)	64					endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)	5		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		ACAACGTCAAGCTACAGCGTA	0.607																																						ENST00000253794.2		NA																	0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)	5						c.(190-192)aaG>aaT		vacuolar protein sorting 25 homolog (S. cerevisiae)							60.0	64.0	62.0					17																	40925889		2203	4300	6503	SO:0001583	missense	84313				cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endosome membrane|nucleoplasm		g.chr17:40925889G>T	AB014763	CCDS11438.1	17q21.31	2014-02-12	2006-04-04		ENSG00000131475	ENSG00000131475			28122	protein-coding gene	gene with protein product		610907	"""vacuolar protein sorting 25 (yeast)"""			15511219	Standard	NM_032353		Approved	MGC10540, EAP20, DERP9	uc002ibi.3	Q9BRG1		ENST00000253794.2:c.192G>T	17.37:g.40925889G>T	ENSP00000253794:p.Lys64Asn	False	False		Somatic	0					p.K64N	NM_032353.2	NP_115729.1	WXS	Illumina HiSeq	Phase_I	Q9BRG1	VPS25_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0745)	2	232	+		Breast(137;0.00104)	64					B2R581	Missense_Mutation	SNP	ENST00000253794.2	37	c.192G>T	CCDS11438.1	.	.	.	.	.	.	.	.	.	.	G	14.05	2.419314	0.42918	.	.	ENSG00000131475	ENST00000253794	T	0.45276	0.9	5.64	4.67	0.58626	ESCRT-II complex, Vps25 subunit, N-terminal winged helix (1);	0.048195	0.85682	D	0.000000	T	0.30572	0.0769	L	0.41124	1.26	0.58432	D	0.999997	B	0.27117	0.168	B	0.25759	0.063	T	0.10359	-1.0633	10	0.30854	T	0.27	-27.0428	7.0885	0.25272	0.1496:0.0:0.7087:0.1416	.	64	Q9BRG1	VPS25_HUMAN	N	64	ENSP00000253794:K64N	ENSP00000253794:K64N	K	+	3	2	VPS25	38179415	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.207000	0.42788	1.383000	0.46405	0.655000	0.94253	AAG		0.607	VPS25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452383.1	0	NM_032353		17:40925889
PCID2	55795	broad.mit.edu	37	13	113839829	113839829	+	Silent	SNP	C	C	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr13:113839829C>A	ENST00000337344.4	-	8	589	c.513G>T	c.(511-513)ctG>ctT	p.L171L	PCID2_ENST00000493650.1_5'UTR|PCID2_ENST00000246505.5_Silent_p.L225L|PCID2_ENST00000375459.1_Silent_p.L169L|PCID2_ENST00000375477.1_Silent_p.L171L|PCID2_ENST00000375457.2_Silent_p.L169L|PCID2_ENST00000375479.2_Silent_p.L171L	NM_001127202.2	NP_001120674.1	Q5JVF3	PCID2_HUMAN	PCI domain containing 2	171					negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mRNA stability (GO:0043488)|spleen development (GO:0048536)					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			GCTGGTTCACCAGAAACAGCA	0.353																																						ENST00000375457.2		NA																	0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20						c.(505-507)ctG>ctT		PCI domain containing 2							125.0	122.0	123.0					13																	113839829		2203	4300	6503	SO:0001819	synonymous_variant	55795				negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development		protein binding	g.chr13:113839829C>A	AK002167	CCDS9532.2, CCDS58301.1, CCDS58302.1	13q34	2006-03-31			ENSG00000126226	ENSG00000126226			25653	protein-coding gene	gene with protein product		613713				12477932	Standard	NM_001127203		Approved	FLJ11305	uc031qnm.1	Q5JVF3	OTTHUMG00000017385	ENST00000337344.4:c.513G>T	13.37:g.113839829C>A		False	False		Somatic	0				PCID2_ENST00000375459.1_Silent_p.L169L|PCID2_ENST00000375479.2_Silent_p.L171L|PCID2_ENST00000493650.1_5'UTR|PCID2_ENST00000375477.1_Silent_p.L171L|PCID2_ENST00000337344.4_Silent_p.L171L|PCID2_ENST00000246505.5_Silent_p.L225L	p.L169L	NM_001258213.1	NP_001245142.1	WXS	Illumina HiSeq	Phase_I	Q5JVF3	PCID2_HUMAN	all cancers(43;0.104)		8	1103	-	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	171					A6NK09|Q3ZCX1|Q5TC57|Q5TC58|Q9H7K1|Q9HBZ7|Q9NUK6|Q9NVY1|Q9NW44|Q9NWH3	Silent	SNP	ENST00000337344.4	37	c.507G>T	CCDS9532.2																																																																																				0.353	PCID2-002	KNOWN	alternative_3_UTR|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045897.1	0	NM_018386		13:113839829
NOVA1	4857	broad.mit.edu	37	14	26917998	26917998	+	Nonsense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr14:26917998G>A	ENST00000539517.2	-	5	1008	c.691C>T	c.(691-693)Cga>Tga	p.R231*	NOVA1_ENST00000465357.2_Nonsense_Mutation_p.R207*|NOVA1_ENST00000267422.7_Nonsense_Mutation_p.R109*	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	234	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				locomotory behavior (GO:0007626)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA metabolic process (GO:0051252)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		ACAGCTTTTCGGTTTTGTTCA	0.473																																						ENST00000539517.2		NA																	0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40						c.(691-693)Cga>Tga		neuro-oncological ventral antigen 1							237.0	215.0	223.0					14																	26917998		2203	4300	6503	SO:0001587	stop_gained	4857				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding	g.chr14:26917998G>A	U04840	CCDS9635.1, CCDS32060.1, CCDS32061.1	14q12	2006-06-09			ENSG00000139910	ENSG00000139910			7886	protein-coding gene	gene with protein product		602157				8558240	Standard	NM_006489		Approved		uc001wpy.3	P51513	OTTHUMG00000029385	ENST00000539517.2:c.691C>T	14.37:g.26917998G>A	ENSP00000438875:p.Arg231*	False	False		Somatic	0				NOVA1_ENST00000267422.7_Nonsense_Mutation_p.R109*|NOVA1_ENST00000465357.2_Nonsense_Mutation_p.R207*	p.R231*	NM_002515.2	NP_002506.2	WXS	Illumina HiSeq	Phase_I	P51513	NOVA1_HUMAN		GBM - Glioblastoma multiforme(265;0.0135)	5	1008	-			234			KH 2.		A8K0S4|A8K4Q7|D3DS81|D3DS82|Q6B004	Nonsense_Mutation	SNP	ENST00000539517.2	37	c.691C>T	CCDS32061.1	.	.	.	.	.	.	.	.	.	.	G	38	6.801762	0.97849	.	.	ENSG00000139910	ENST00000465357;ENST00000539517;ENST00000267422;ENST00000449198;ENST00000347476	.	.	.	5.73	5.73	0.89815	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	-3.4817	19.8956	0.96956	0.0:0.0:1.0:0.0	.	.	.	.	X	207;231;109;190;85	.	ENSP00000267422:R109X	R	-	1	2	NOVA1	25987838	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.824000	0.99380	2.708000	0.92522	0.563000	0.77884	CGA		0.473	NOVA1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000073261.3	0	NM_006491		14:26917998
SOX14	8403	broad.mit.edu	37	3	137483748	137483748	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:137483748G>A	ENST00000306087.1	+	1	170	c.122G>A	c.(121-123)cGc>cAc	p.R41H		NM_004189.3	NP_004180.1	O95416	SOX14_HUMAN	SRY (sex determining region Y)-box 14	41					entrainment of circadian clock (GO:0009649)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|regulation of neuron migration (GO:2001222)|visual perception (GO:0007601)	nuclear transcription factor complex (GO:0044798)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			large_intestine(2)|lung(12)	14						ATCAGCAAACGCCTAGGTGCC	0.597																																						ENST00000306087.1		NA																	0				large_intestine(2)|lung(12)	14						c.(121-123)cGc>cAc		SRY (sex determining region Y)-box 14							103.0	100.0	101.0					3																	137483748		2203	4300	6503	SO:0001583	missense	8403				negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent	nucleus	sequence-specific DNA binding	g.chr3:137483748G>A	AJ006230	CCDS3094.1	3q22-q23	2008-07-18			ENSG00000168875	ENSG00000168875		"""SRY (sex determining region Y)-boxes"""	11193	protein-coding gene	gene with protein product	"""HMG box transcription factor SOX-14"", ""SRY-box 14"""	604747				9925951	Standard	NM_004189		Approved	SOX28	uc003erm.2	O95416	OTTHUMG00000159757	ENST00000306087.1:c.122G>A	3.37:g.137483748G>A	ENSP00000305343:p.Arg41His	False	False		Somatic	0					p.R41H	NM_004189.3	NP_004180.1	WXS	Illumina HiSeq	Phase_I	O95416	SOX14_HUMAN			1	170	+			41					B2RAC0|Q3KPH7	Missense_Mutation	SNP	ENST00000306087.1	37	c.122G>A	CCDS3094.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.711362	0.89112	.	.	ENSG00000168875	ENST00000306087	D	0.98060	-4.69	5.08	5.08	0.68730	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.64402	D	0.000001	D	0.98343	0.9450	M	0.82630	2.6	0.80722	D	1	D	0.69078	0.997	P	0.55508	0.777	D	0.99338	1.0911	10	0.87932	D	0	.	18.2699	0.90064	0.0:0.0:1.0:0.0	.	41	O95416	SOX14_HUMAN	H	41	ENSP00000305343:R41H	ENSP00000305343:R41H	R	+	2	0	SOX14	138966438	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	9.597000	0.98273	2.653000	0.90120	0.511000	0.50034	CGC		0.597	SOX14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357182.1	0	NM_004189		3:137483748
PTPRN2	5799	broad.mit.edu	37	7	157926573	157926573	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr7:157926573G>A	ENST00000389418.4	-	9	1361	c.1352C>T	c.(1351-1353)aCg>aTg	p.T451M	PTPRN2_ENST00000409483.1_Missense_Mutation_p.T413M|PTPRN2_ENST00000389416.4_Missense_Mutation_p.T434M|PTPRN2_ENST00000389413.3_Missense_Mutation_p.T451M|PTPRN2_ENST00000404321.2_Missense_Mutation_p.T474M	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	451					negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		TTTGGAATACGTCTGGCTCTT	0.612																																						ENST00000389413.3		NA																	0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86						c.(1351-1353)aCg>aTg		protein tyrosine phosphatase, receptor type, N polypeptide 2							64.0	69.0	67.0					7																	157926573		2203	4300	6503	SO:0001583	missense	5799					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:157926573G>A	AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9677	protein-coding gene	gene with protein product	"""IAR PTPRP"""	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.1352C>T	7.37:g.157926573G>A	ENSP00000374069:p.Thr451Met	False	False		Somatic	0				PTPRN2_ENST00000389416.4_Missense_Mutation_p.T434M|PTPRN2_ENST00000389418.4_Missense_Mutation_p.T451M|PTPRN2_ENST00000404321.2_Missense_Mutation_p.T474M|PTPRN2_ENST00000409483.1_Missense_Mutation_p.T413M	p.T451M	NM_130843.2	NP_570858.2	WXS	Illumina HiSeq	Phase_I	Q92932	PTPR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)	9	1455	-	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	451					E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Missense_Mutation	SNP	ENST00000389418.4	37	c.1352C>T	CCDS5947.1	.	.	.	.	.	.	.	.	.	.	G	12.44	1.938456	0.34189	.	.	ENSG00000155093	ENST00000409483;ENST00000389413;ENST00000389416;ENST00000389418;ENST00000404321	T;T;T;T;T	0.08984	3.14;3.03;3.1;3.13;3.09	3.78	3.78	0.43462	.	0.331135	0.20745	U	0.086475	T	0.17534	0.0421	L	0.32530	0.975	0.31682	N	0.643063	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.71870	0.975;0.944;0.975;0.944;0.944	T	0.02797	-1.1109	10	0.66056	D	0.02	.	12.9114	0.58182	0.0:0.0:1.0:0.0	.	474;413;451;434;451	Q92932-3;E7EM83;Q92932-2;E9PC57;Q92932	.;.;.;.;PTPR2_HUMAN	M	413;451;434;451;474	ENSP00000387114:T413M;ENSP00000374064:T451M;ENSP00000374067:T434M;ENSP00000374069:T451M;ENSP00000385464:T474M	ENSP00000374064:T451M	T	-	2	0	PTPRN2	157619334	1.000000	0.71417	0.126000	0.21872	0.004000	0.04260	3.318000	0.51975	1.810000	0.52873	0.585000	0.79938	ACG		0.612	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353214.1	0			7:157926573
CLIP1	6249	broad.mit.edu	37	12	122825973	122825973	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:122825973G>A	ENST00000540338.1	-	10	1819	c.1778C>T	c.(1777-1779)aCc>aTc	p.T593I	CLIP1_ENST00000302528.7_Missense_Mutation_p.T582I|CLIP1_ENST00000358808.2_Missense_Mutation_p.T582I|CLIP1_ENST00000361654.4_Missense_Mutation_p.T547I|CLIP1_ENST00000545889.1_Missense_Mutation_p.T283I|CLIP1_ENST00000537178.1_Missense_Mutation_p.T547I			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	593					microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TTCCGTGGCGGTATACAGAGC	0.458																																						ENST00000358808.2		NA																	0				NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1744-1746)aCc>aTc		CAP-GLY domain containing linker protein 1							142.0	143.0	142.0					12																	122825973		2203	4300	6503	SO:0001583	missense	6249				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding	g.chr12:122825973G>A		CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"""restin"""	179838	"""restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"""	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.1778C>T	12.37:g.122825973G>A	ENSP00000439093:p.Thr593Ile	False	False		Somatic	0				CLIP1_ENST00000545889.1_Missense_Mutation_p.T283I|CLIP1_ENST00000537178.1_Missense_Mutation_p.T547I|CLIP1_ENST00000540338.1_Missense_Mutation_p.T593I|CLIP1_ENST00000302528.7_Missense_Mutation_p.T582I|CLIP1_ENST00000361654.4_Missense_Mutation_p.T547I	p.T582I	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	WXS	Illumina HiSeq	Phase_I	P30622	CLIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)	10	1899	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		593					A0AVD3|Q17RS4|Q29RG0	Missense_Mutation	SNP	ENST00000540338.1	37	c.1745C>T	CCDS58285.1	.	.	.	.	.	.	.	.	.	.	G	7.866	0.727207	0.15439	.	.	ENSG00000130779	ENST00000545889;ENST00000302528;ENST00000358808;ENST00000542885;ENST00000537178;ENST00000540338;ENST00000540304	T;T;T;T;T;T	0.61627	2.74;0.69;0.69;0.7;0.69;0.09	5.37	0.13	0.14746	.	0.766493	0.13191	N	0.406706	T	0.23965	0.0580	N	0.01352	-0.895	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.18116	-1.0347	10	0.44086	T	0.13	3.1754	5.4745	0.16688	0.372:0.1308:0.4972:0.0	.	283;547;582;593	F5H0N7;P30622-2;P30622-1;P30622	.;.;.;CLIP1_HUMAN	I	283;582;582;427;547;593;516	ENSP00000438743:T283I;ENSP00000303585:T582I;ENSP00000351665:T582I;ENSP00000445531:T547I;ENSP00000439093:T593I;ENSP00000437786:T516I	ENSP00000303585:T582I	T	-	2	0	CLIP1	121391926	0.848000	0.29623	0.000000	0.03702	0.566000	0.35808	2.612000	0.46343	0.033000	0.15463	0.561000	0.74099	ACC		0.458	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	0	NM_002956		12:122825973
ARHGEF15	22899	broad.mit.edu	37	17	8221919	8221919	+	Missense_Mutation	SNP	G	G	A	rs143720339		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr17:8221919G>A	ENST00000361926.3	+	11	1921	c.1811G>A	c.(1810-1812)cGc>cAc	p.R604H	AC135178.7_ENST00000458568.1_RNA|ARHGEF15_ENST00000421050.1_Missense_Mutation_p.R604H	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	604					negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						GAGGTGGGGCGCATGAAGCAG	0.612																																						ENST00000361926.3		NA																	0				breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						c.(1810-1812)cGc>cAc		Rho guanine nucleotide exchange factor (GEF) 15		G	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	62.0	63.0	62.0		1811,1811	5.3	1.0	17	dbSNP_134	62	0,8600		0,0,4300	no	missense,missense	ARHGEF15	NM_025014.1,NM_173728.3	29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	604/842,604/842	8221919	1,13005	2203	4300	6503	SO:0001583	missense	22899				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr17:8221919G>A	AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"""Rho guanine nucleotide exchange factors"""	15590	protein-coding gene	gene with protein product	"""Rho guanine exchange factor (GEF) 15"""	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.1811G>A	17.37:g.8221919G>A	ENSP00000355026:p.Arg604His	False	False		Somatic	0				AC135178.7_ENST00000458568.1_RNA|ARHGEF15_ENST00000421050.1_Missense_Mutation_p.R604H	p.R604H	NM_173728.3	NP_776089.2	WXS	Illumina HiSeq	Phase_I	O94989	ARHGF_HUMAN			11	1921	+			604					A8K6G1|Q8N449|Q9H8B4	Missense_Mutation	SNP	ENST00000361926.3	37	c.1811G>A	CCDS11139.1	.	.	.	.	.	.	.	.	.	.	g	23.0	4.358370	0.82243	2.27E-4	0.0	ENSG00000198844	ENST00000361926;ENST00000455564;ENST00000421050	T;T	0.32515	1.45;1.45	5.29	5.29	0.74685	Dbl homology (DH) domain (1);	0.059270	0.64402	D	0.000004	T	0.51160	0.1658	L	0.59436	1.845	0.46113	D	0.998873	D;D	0.89917	1.0;1.0	D;D	0.66979	0.948;0.948	T	0.49679	-0.8914	10	0.54805	T	0.06	-18.0429	16.4339	0.83864	0.0:0.0:1.0:0.0	.	604;604	D3DTR7;O94989	.;ARHGF_HUMAN	H	604;394;604	ENSP00000355026:R604H;ENSP00000412505:R604H	ENSP00000355026:R604H	R	+	2	0	ARHGEF15	8162644	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.368000	0.59505	2.470000	0.83445	0.555000	0.69702	CGC		0.612	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226993.2	0	NM_173728		17:8221919
GPR97	222487	broad.mit.edu	37	16	57714440	57714440	+	Silent	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr16:57714440G>A	ENST00000333493.4	+	8	953	c.792G>A	c.(790-792)acG>acA	p.T264T	GPR97_ENST00000327655.6_Silent_p.T54T|GPR97_ENST00000450388.3_Silent_p.T144T|RP11-405F3.4_ENST00000563062.1_RNA	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	264					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.T264T(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						ACCAGTCCACGGTGCATATCC	0.587																																						ENST00000333493.4		NA																	1	Substitution - coding silent(1)	p.T264T(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(790-792)acG>acA		G protein-coupled receptor 97							136.0	119.0	125.0					16																	57714440		2198	4300	6498	SO:0001819	synonymous_variant	222487				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr16:57714440G>A	AY140959	CCDS10786.1	16q13	2014-08-08			ENSG00000182885	ENSG00000182885		"""-"", ""GPCR / Class B : Orphans"""	13728	protein-coding gene	gene with protein product						12435584, 222487	Standard	NM_170776		Approved	Pb99, PGR26	uc002emh.3	Q86Y34	OTTHUMG00000133458	ENST00000333493.4:c.792G>A	16.37:g.57714440G>A		False	False		Somatic	0				GPR97_ENST00000450388.3_Silent_p.T144T|GPR97_ENST00000327655.6_Silent_p.T54T	p.T264T	NM_170776.4	NP_740746.4	WXS	Illumina HiSeq	Phase_I	Q86Y34	GPR97_HUMAN			8	953	+			264					Q6ZMF4|Q86SL9|Q8IZF1	Silent	SNP	ENST00000333493.4	37	c.792G>A	CCDS10786.1																																																																																				0.587	GPR97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257333.2	0	NM_170776		16:57714440
UBR4	23352	broad.mit.edu	37	1	19464627	19464627	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:19464627G>A	ENST00000375254.3	-	60	8807	c.8780C>T	c.(8779-8781)cCg>cTg	p.P2927L	UBR4_ENST00000375217.2_Missense_Mutation_p.P2920L|UBR4_ENST00000375226.2_Missense_Mutation_p.P2903L|UBR4_ENST00000375267.2_Missense_Mutation_p.P2927L	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2927					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TGGTCCAGCCGGATGCCCCTC	0.542																																						ENST00000375267.2		NA																	0				breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.(8779-8781)cCg>cTg		ubiquitin protein ligase E3 component n-recognin 4							58.0	55.0	56.0					1																	19464627		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19464627G>A	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.8780C>T	1.37:g.19464627G>A	ENSP00000364403:p.Pro2927Leu	False	False		Somatic	0				UBR4_ENST00000375217.2_Missense_Mutation_p.P2920L|UBR4_ENST00000375226.2_Missense_Mutation_p.P2903L|UBR4_ENST00000375254.3_Missense_Mutation_p.P2927L	p.P2927L			WXS	Illumina HiSeq	Phase_I	Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	60	8783	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	2927					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.8780C>T	CCDS189.1	.	.	.	.	.	.	.	.	.	.	G	15.55	2.867697	0.51588	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000425413;ENST00000417040	T;T;T;T	0.27256	1.74;1.74;1.68;1.7	5.83	4.89	0.63831	.	0.056992	0.64402	D	0.000001	T	0.25158	0.0611	L	0.57536	1.79	0.80722	D	1	P	0.36768	0.569	B	0.29663	0.105	T	0.05053	-1.0909	10	0.42905	T	0.14	.	15.9733	0.80036	0.0:0.0:0.8646:0.1354	.	2927	Q5T4S7	UBR4_HUMAN	L	2927;2927;2920;2903;535;1613	ENSP00000364403:P2927L;ENSP00000364416:P2927L;ENSP00000364365:P2920L;ENSP00000364374:P2903L	ENSP00000364365:P2920L	P	-	2	0	UBR4	19337214	1.000000	0.71417	0.967000	0.41034	0.793000	0.44817	7.308000	0.78929	2.770000	0.95276	0.655000	0.94253	CCG		0.542	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	0	NM_020765		1:19464627
GOLGA1	2800	broad.mit.edu	37	9	127644234	127644234	+	Splice_Site	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr9:127644234C>T	ENST00000373555.4	-	21	2299		c.e21-1			NM_002077.3	NP_002068	Q92805	GOGA1_HUMAN	golgin A1						protein targeting to Golgi (GO:0000042)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						GTCTGATTTTCTGAAAAACCA	0.493																																						ENST00000373555.4		NA																	0				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						c.e21-1		golgin A1							87.0	86.0	86.0					9																	127644234		2203	4300	6503	SO:0001630	splice_region_variant	2800					Golgi cisterna membrane		g.chr9:127644234C>T	U51587	CCDS6860.1	9q34.11	2010-02-12	2010-02-12		ENSG00000136935	ENSG00000136935			4424	protein-coding gene	gene with protein product		602502	"""golgi autoantigen, golgin subfamily a, 1"""			9324025	Standard	NM_002077		Approved	golgin-97, MGC33154	uc004bpc.3	Q92805	OTTHUMG00000020665	ENST00000373555.4:c.1966-1G>A	9.37:g.127644234C>T		True	False		Somatic	0						NM_002077.3	NP_002068	WXS	Illumina HiSeq	Phase_I	Q92805	GOGA1_HUMAN			21	2299	-			NA					Q5T164|Q8IYZ9	Splice_Site	SNP	ENST00000373555.4	37		CCDS6860.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.633014	0.87660	.	.	ENSG00000136935	ENST00000373555	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.051	0.93046	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GOLGA1	126684055	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.772000	0.55325	2.745000	0.94114	0.655000	0.94253	.		0.493	GOLGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054049.1	0	NM_002077	Intron	9:127644234
CHD3	1107	broad.mit.edu	37	17	7797171	7797171	+	Missense_Mutation	SNP	G	G	A	rs139173826		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr17:7797171G>A	ENST00000330494.7	+	6	992	c.842G>A	c.(841-843)cGc>cAc	p.R281H	CHD3_ENST00000380358.4_Missense_Mutation_p.R340H|CHD3_ENST00000358181.4_Missense_Mutation_p.R281H	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	281					centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CCTGATGGACGCAAGAAGCTT	0.542																																						ENST00000380358.4		NA																	0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65						c.(1018-1020)cGc>cAc		chromodomain helicase DNA binding protein 3		G	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	137.0	132.0	134.0		1019,842,842	5.3	1.0	17	dbSNP_134	134	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense	CHD3	NM_001005271.2,NM_001005273.2,NM_005852.3	29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	340/2060,281/2001,281/1967	7797171	1,13005	2203	4300	6503	SO:0001583	missense	1107				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	g.chr17:7797171G>A	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.842G>A	17.37:g.7797171G>A	ENSP00000332628:p.Arg281His	False	False		Somatic	0				CHD3_ENST00000330494.7_Missense_Mutation_p.R281H|CHD3_ENST00000358181.4_Missense_Mutation_p.R281H	p.R340H	NM_001005271.2	NP_001005271.2	WXS	Illumina HiSeq	Phase_I	Q12873	CHD3_HUMAN			6	1020	+		Prostate(122;0.202)	281					D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	ENST00000330494.7	37	c.1019G>A	CCDS32554.1	.	.	.	.	.	.	.	.	.	.	G	11.21	1.571999	0.28092	0.0	1.16E-4	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494	D;D;D	0.90504	-2.68;-2.63;-2.62	5.29	5.29	0.74685	.	0.000000	0.44688	D	0.000423	T	0.80529	0.4640	N	0.22421	0.69	0.34035	D	0.654297	P;P;P	0.46220	0.871;0.874;0.874	B;B;B	0.35550	0.205;0.101;0.145	D	0.85691	0.1307	10	0.62326	D	0.03	-6.0171	7.7325	0.28796	0.0868:0.1663:0.7469:0.0	.	281;281;340	Q12873-2;Q12873;E9PG89	.;CHD3_HUMAN;.	H	340;281;281	ENSP00000369716:R340H;ENSP00000350907:R281H;ENSP00000332628:R281H	ENSP00000332628:R281H	R	+	2	0	CHD3	7737896	0.981000	0.34729	1.000000	0.80357	0.987000	0.75469	1.600000	0.36762	2.480000	0.83734	0.650000	0.86243	CGC		0.542	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	0	NM_001005273		17:7797171
SEMA6D	80031	broad.mit.edu	37	15	48060897	48060897	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr15:48060897G>A	ENST00000316364.5	+	18	2324	c.1885G>A	c.(1885-1887)Gat>Aat	p.D629N	SEMA6D_ENST00000558816.1_Intron|SEMA6D_ENST00000358066.4_Intron|SEMA6D_ENST00000389432.2_Intron|SEMA6D_ENST00000558014.1_Intron|SEMA6D_ENST00000389433.2_Missense_Mutation_p.D610N|SEMA6D_ENST00000537942.1_Intron|SEMA6D_ENST00000355997.3_Intron|SEMA6D_ENST00000536845.2_Missense_Mutation_p.D629N|SEMA6D_ENST00000354744.4_Intron|SEMA6D_ENST00000389428.3_Intron	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	629					axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		AGTTCAAGATGATCCAAACAC	0.433																																						ENST00000316364.5		NA																	0				biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77						c.(1885-1887)Gat>Aat		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D							131.0	124.0	126.0					15																	48060897		2198	4297	6495	SO:0001583	missense	80031				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	g.chr15:48060897G>A	AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"""Semaphorins"""	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.1885G>A	15.37:g.48060897G>A	ENSP00000324857:p.Asp629Asn	False	False		Somatic	0				SEMA6D_ENST00000354744.4_Intron|SEMA6D_ENST00000389428.3_Intron|SEMA6D_ENST00000536845.2_Missense_Mutation_p.D629N|SEMA6D_ENST00000358066.4_Intron|SEMA6D_ENST00000355997.3_Intron|SEMA6D_ENST00000558816.1_Intron|SEMA6D_ENST00000558014.1_Intron|SEMA6D_ENST00000389433.2_Missense_Mutation_p.D610N|SEMA6D_ENST00000537942.1_Intron|SEMA6D_ENST00000389432.2_Intron	p.D629N	NM_153618.1	NP_705871.1	WXS	Illumina HiSeq	Phase_I	Q8NFY4	SEM6D_HUMAN		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)	18	2324	+		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)	629					A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Missense_Mutation	SNP	ENST00000316364.5	37	c.1885G>A	CCDS32225.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.979420	0.53827	.	.	ENSG00000137872	ENST00000536845;ENST00000316364;ENST00000389433	T;T;T	0.17854	2.25;2.25;2.27	5.49	5.49	0.81192	.	0.490778	0.22255	N	0.062495	T	0.11110	0.0271	N	0.08118	0	0.80722	D	1	B	0.23058	0.079	B	0.23018	0.043	T	0.26916	-1.0089	10	0.17832	T	0.49	.	19.7433	0.96241	0.0:0.0:1.0:0.0	.	629	Q8NFY4	SEM6D_HUMAN	N	629;629;610	ENSP00000446152:D629N;ENSP00000324857:D629N;ENSP00000374084:D610N	ENSP00000324857:D629N	D	+	1	0	SEMA6D	45848189	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.466000	0.80914	2.733000	0.93635	0.655000	0.94253	GAT		0.433	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	0	NM_024966		15:48060897
CBFA2T2	9139	broad.mit.edu	37	20	32232202	32232202	+	Missense_Mutation	SNP	A	A	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr20:32232202A>T	ENST00000346541.3	+	12	2102	c.1565A>T	c.(1564-1566)aAt>aTt	p.N522I	CBFA2T2_ENST00000492345.1_Missense_Mutation_p.N493I|CBFA2T2_ENST00000375279.2_Missense_Mutation_p.N522I|CBFA2T2_ENST00000397800.1_Missense_Mutation_p.N493I|CBFA2T2_ENST00000342704.6_Missense_Mutation_p.N513I|CBFA2T2_ENST00000359606.3_Missense_Mutation_p.N532I|CBFA2T2_ENST00000543126.1_Missense_Mutation_p.N70I	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	522					epithelial cell differentiation (GO:0030855)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						AGTGGCTGCAATATCGCGCGA	0.602																																					Esophageal Squamous(174;142 1955 14837 21276 28041)	ENST00000492345.1		NA																	0				breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						c.(1477-1479)aAt>aTt		core-binding factor, runt domain, alpha subunit 2; translocated to, 2							75.0	71.0	73.0					20																	32232202		2203	4300	6503	SO:0001583	missense	9139					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:32232202A>T	AF052210	CCDS13221.1, CCDS46590.1	20q11	2007-01-29			ENSG00000078699	ENSG00000078699		"""Zinc fingers, MYND-type"""	1536	protein-coding gene	gene with protein product		603672				9790752	Standard	XM_006723886		Approved	MTGR1, ZMYND3	uc002wze.1	O43439	OTTHUMG00000032261	ENST00000346541.3:c.1565A>T	20.37:g.32232202A>T	ENSP00000262653:p.Asn522Ile	False	False		Somatic	0				CBFA2T2_ENST00000359606.3_Missense_Mutation_p.N532I|CBFA2T2_ENST00000397800.1_Missense_Mutation_p.N493I|CBFA2T2_ENST00000346541.3_Missense_Mutation_p.N522I|CBFA2T2_ENST00000375279.2_Missense_Mutation_p.N522I|CBFA2T2_ENST00000342704.6_Missense_Mutation_p.N513I|CBFA2T2_ENST00000543126.1_Missense_Mutation_p.N70I	p.N493I			WXS	Illumina HiSeq	Phase_I	O43439	MTG8R_HUMAN			13	2163	+			522					B2RAE6|F8W6D7|Q5TGE4|Q5TGE5|Q5TGE6|Q5TGE7|Q8IWF3|Q96B06|Q96L00|Q9H436|Q9UJP8|Q9UJP9|Q9UP24	Missense_Mutation	SNP	ENST00000346541.3	37	c.1478A>T	CCDS13221.1	.	.	.	.	.	.	.	.	.	.	A	31	5.091645	0.94149	.	.	ENSG00000078699	ENST00000397803;ENST00000375279;ENST00000342704;ENST00000346541;ENST00000397800;ENST00000359606;ENST00000543126	T;T;T;T;T	0.51325	0.71;0.72;0.71;0.72;1.3	5.79	5.79	0.91817	Zinc finger, MYND-type (3);	0.000000	0.85682	D	0.000000	T	0.70325	0.3211	M	0.76838	2.35	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.74518	-0.3639	10	0.87932	D	0	-4.7166	16.1193	0.81336	1.0:0.0:0.0:0.0	.	522;513	O43439;F8W6D7	MTG8R_HUMAN;.	I	296;522;513;522;493;532;70	ENSP00000364428:N522I;ENSP00000345810:N513I;ENSP00000262653:N522I;ENSP00000380902:N493I;ENSP00000352622:N532I	ENSP00000345810:N513I	N	+	2	0	CBFA2T2	31695863	1.000000	0.71417	0.996000	0.52242	0.903000	0.53119	9.339000	0.96797	2.201000	0.70794	0.533000	0.62120	AAT		0.602	CBFA2T2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078708.2	0	NM_001032999		20:32232202
CYP2A6	1548	broad.mit.edu	37	19	41351245	41351245	+	Missense_Mutation	SNP	C	C	T	rs145036049		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:41351245C>T	ENST00000301141.5	-	7	1135	c.1115G>A	c.(1114-1116)cGc>cAc	p.R372H	CTC-490E21.12_ENST00000601627.1_Intron	NM_000762.5	NP_000753	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 6	372					coumarin catabolic process (GO:0046226)|coumarin metabolic process (GO:0009804)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum membrane (GO:0005789)	coumarin 7-hydroxylase activity (GO:0008389)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Acetaminophen(DB00316)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amobarbital(DB01351)|Amphetamine(DB00182)|Antipyrine(DB01435)|Arformoterol(DB01274)|Azelastine(DB00972)|Azithromycin(DB00207)|Buprenorphine(DB00921)|Bupropion(DB01156)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Cisapride(DB00604)|Clofibrate(DB00636)|Clomifene(DB00882)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Dapagliflozin(DB06292)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Diethylstilbestrol(DB00255)|Dronabinol(DB00470)|Eletriptan(DB00216)|Ezogabine(DB04953)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Flurazepam(DB00690)|Fomepizole(DB01213)|Formoterol(DB00983)|Halothane(DB01159)|Ifosfamide(DB01181)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Letrozole(DB01006)|Lidocaine(DB00281)|Lorcaserin(DB04871)|Memantine(DB01043)|Menadione(DB00170)|Methimazole(DB00763)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Miconazole(DB01110)|Montelukast(DB00471)|Nevirapine(DB00238)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Norfloxacin(DB01059)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Prednisolone(DB00860)|Progesterone(DB00396)|Propofol(DB00818)|Rifampicin(DB01045)|Rosiglitazone(DB00412)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tranylcypromine(DB00752)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Zidovudine(DB00495)	TTTGACTCTGCGGGCCAAACT	0.572													.|||	1	0.000199681	0.0008	0.0	5008	,	,		17968	0.0		0.0	False		,,,				2504	0.0					ENST00000301141.5		NA																	0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37						c.(1114-1116)cGc>cAc		cytochrome P450, family 2, subfamily A, polypeptide 6	Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)	C	HIS/ARG	1,4405		0,1,2202	118.0	114.0	116.0		1115	0.6	0.1	19	dbSNP_134	116	0,8600		0,0,4300	no	missense	CYP2A6	NM_000762.5	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	372/495	41351245	1,13005	2203	4300	6503	SO:0001583	missense	1548				coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding	g.chr19:41351245C>T	AF182275	CCDS12568.1	19q13.2	2013-11-11	2003-01-14		ENSG00000255974	ENSG00000255974		"""Cytochrome P450s"""	2610	protein-coding gene	gene with protein product		122720	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 6"""	CYP2A3		7668294, 2748347	Standard	NM_000762		Approved	CPA6, CYP2A	uc002opl.4	P11509	OTTHUMG00000182713	ENST00000301141.5:c.1115G>A	19.37:g.41351245C>T	ENSP00000301141:p.Arg372His	True	False		Somatic	0				CTC-490E21.12_ENST00000601627.1_Intron	p.R372H	NM_000762.5	NP_000753	WXS	Illumina HiSeq	Phase_I	P11509	CP2A6_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		7	1135	-			372					A7YAE5|B2R7F6|P00190|P10890|Q16803|Q4VAT9|Q4VAU0|Q4VAU1|Q9H1Z7|Q9UCU0|Q9UK48	Missense_Mutation	SNP	ENST00000301141.5	37	c.1115G>A	CCDS12568.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	-	0.014	-1.595383	0.00857	2.27E-4	0.0	ENSG00000255974	ENST00000301141	T	0.77877	-1.13	2.76	0.567	0.17325	.	0.199062	0.42821	N	0.000649	T	0.50871	0.1641	N	0.02973	-0.45	0.09310	N	1	B;B	0.32693	0.105;0.38	B;B	0.43413	0.046;0.419	T	0.55885	-0.8070	10	0.02654	T	1	.	4.58	0.12253	0.0:0.4325:0.0:0.5675	.	372;372	Q13120;P11509	.;CP2A6_HUMAN	H	372	ENSP00000301141:R372H	ENSP00000301141:R372H	R	-	2	0	CYP2A6	46043085	0.000000	0.05858	0.056000	0.19401	0.181000	0.23173	-1.136000	0.03222	0.446000	0.26666	0.379000	0.24179	CGC		0.572	CYP2A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463259.1	0	NM_000762		19:41351245
NISCH	11188	broad.mit.edu	37	3	52523640	52523640	+	Silent	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:52523640C>T	ENST00000479054.1	+	18	3474	c.3402C>T	c.(3400-3402)gtC>gtT	p.V1134V	NISCH_ENST00000345716.4_Silent_p.V1134V			Q9Y2I1	NISCH_HUMAN	nischarin	1134					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|glucose metabolic process (GO:0006006)|negative regulation of cell migration (GO:0030336)|norepinephrine secretion (GO:0048243)|Rac protein signal transduction (GO:0016601)|regulation of blood pressure (GO:0008217)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled amine receptor activity (GO:0008227)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	Tizanidine(DB00697)	TCCGGCACGTCGCCAGCCTGC	0.672																																						ENST00000345716.4		NA																	0				NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33						c.(3400-3402)gtC>gtT		nischarin							52.0	56.0	55.0					3																	52523640		2203	4298	6501	SO:0001819	synonymous_variant	11188				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity	g.chr3:52523640C>T	AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322			18006	protein-coding gene	gene with protein product	"""imidazoline receptor candidate"", ""I-1 receptor candidate protein"", ""imidazoline receptor antisera selected"""	615507				11912194, 10882231	Standard	NM_007184		Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.3402C>T	3.37:g.52523640C>T		False	False		Somatic	0				NISCH_ENST00000479054.1_Silent_p.V1134V	p.V1134V	NM_007184.3	NP_009115	WXS	Illumina HiSeq	Phase_I	Q9Y2I1	NISCH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	17	3536	+			1134					C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Silent	SNP	ENST00000479054.1	37	c.3402C>T	CCDS33767.1																																																																																				0.672	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351357.1	0	NM_007184		3:52523640
CES1	1066	broad.mit.edu	37	16	55862732	55862732	+	Silent	SNP	C	C	T	rs145950149		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr16:55862732C>T	ENST00000361503.4	-	2	334	c.204G>A	c.(202-204)ccG>ccA	p.P68P	CES1_ENST00000566555.1_5'Flank|CES1_ENST00000422046.2_Silent_p.P68P|CES1_ENST00000360526.3_Silent_p.P69P			P23141	EST1_HUMAN	carboxylesterase 1	68					epithelial cell differentiation (GO:0030855)|metabolic process (GO:0008152)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)	carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)								all cancers(182;0.13)|Epithelial(162;0.137)	Benzocaine(DB01086)|Capecitabine(DB01101)|Ciclesonide(DB01410)|Clopidogrel(DB00758)|Cyclandelate(DB04838)|Dabigatran etexilate(DB06695)|Indomethacin(DB00328)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Mycophenolate mofetil(DB00688)|Oseltamivir(DB00198)|Probucol(DB01599)|Rufinamide(DB06201)|Tamoxifen(DB00675)|Trandolapril(DB00519)	CTGCAGGCTGCGGTGGAGTAA	0.532																																					NSCLC(162;1801 2756 42904 52896)	ENST00000422046.2		NA																	0					NA						c.(202-204)ccG>ccA		carboxylesterase 1	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	C	,,	0,4396		0,0,2198	106.0	105.0	105.0		204,207,204	-6.1	0.6	16	dbSNP_134	105	2,8598		0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	CES1	NM_001025194.1,NM_001025195.1,NM_001266.4	,,	0,2,6496	TT,TC,CC		0.0233,0.0,0.0154	,,	68/568,69/569,68/567	55862732	2,12994	2198	4300	6498	SO:0001819	synonymous_variant	1066				response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:55862732C>T	BC012418	CCDS32450.1, CCDS45488.1, CCDS45489.1	16q22.2	2010-10-12	2010-10-12		ENSG00000198848	ENSG00000198848	3.1.1.1	"""Carboxylesterases"""	1863	protein-coding gene	gene with protein product	"""human monocyte/macrophage serine esterase 1"""	114835	"""carboxylesterase 1 (monocyte/macrophage serine esterase 1)"""			2070086, 20931200	Standard	XM_005255774		Approved	HMSE, CES2, HMSE1, SES1, CEH, CES1A1, CES1A2	uc002eil.3	P23141		ENST00000361503.4:c.204G>A	16.37:g.55862732C>T		False	False		Somatic	0				CES1_ENST00000360526.3_Silent_p.P69P|CES1_ENST00000361503.4_Silent_p.P68P	p.P68P			WXS	Illumina HiSeq	Phase_I	P23141	EST1_HUMAN		all cancers(182;0.13)|Epithelial(162;0.137)	2	485	-			68					A6NIM1|A8K3K8|A8K844|E9PAU8|P82127|Q00015|Q13657|Q14062|Q16737|Q16788|Q549X7|Q549X8|Q86UK2|Q96EE8|Q9UC52|Q9UDG8|Q9UK77|Q9ULY2	Silent	SNP	ENST00000361503.4	37	c.204G>A	CCDS45488.1																																																																																				0.532	CES1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000433285.1	0	NM_001266		16:55862732
LRIG3	121227	broad.mit.edu	37	12	59267907	59267907	+	Silent	SNP	T	T	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:59267907T>A	ENST00000320743.3	-	18	3331	c.3045A>T	c.(3043-3045)ctA>ctT	p.L1015L	LRIG3_ENST00000379141.4_Silent_p.L955L	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	1015					otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			AGGACTTGTTTAGACACAGAT	0.408			T	ROS1	NSCLC																																	ENST00000320743.3		NA		Dom	yes		12	12q14.1	121227	T	leucine-rich repeats and immunoglobulin-like domains 3			E	ROS1		NSCLC	LRIG3/ROS1(2)	0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(3043-3045)ctA>ctT		leucine-rich repeats and immunoglobulin-like domains 3							76.0	78.0	77.0					12																	59267907		2203	4300	6503	SO:0001819	synonymous_variant	121227					integral to membrane		g.chr12:59267907T>A	AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"""Immunoglobulin superfamily / I-set domain containing"""	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.3045A>T	12.37:g.59267907T>A		True	False		Somatic	0				LRIG3_ENST00000379141.4_Silent_p.L955L	p.L1015L	NM_153377.4	NP_700356.2	WXS	Illumina HiSeq	Phase_I	Q6UXM1	LRIG3_HUMAN	GBM - Glioblastoma multiforme(1;1.17e-18)		18	3331	-			1015					Q6UXL7|Q8NC72	Silent	SNP	ENST00000320743.3	37	c.3045A>T	CCDS8960.1	.	.	.	.	.	.	.	.	.	.	T	7.635	0.679659	0.14907	.	.	ENSG00000139263	ENST00000550825	.	.	.	5.63	-9.02	0.00741	.	.	.	.	.	.	.	.	.	.	.	0.26728	N	0.97065	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.2731	0.43493	0.0:0.3257:0.4744:0.1999	.	.	.	.	X	117	.	.	K	-	1	0	LRIG3	57554174	0.386000	0.25180	0.082000	0.20525	0.229000	0.25112	-0.728000	0.04925	-2.026000	0.00934	-0.417000	0.06048	AAA		0.408	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	0	NM_153377		12:59267907
LIG3	3980	broad.mit.edu	37	17	33318808	33318808	+	Missense_Mutation	SNP	T	T	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr17:33318808T>A	ENST00000378526.4	+	6	1293	c.1160T>A	c.(1159-1161)cTc>cAc	p.L387H	LIG3_ENST00000262327.5_Missense_Mutation_p.L387H	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	387					base-excision repair (GO:0006284)|base-excision repair, DNA ligation (GO:0006288)|DNA biosynthetic process (GO:0071897)|DNA repair (GO:0006281)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitochondrial DNA repair (GO:0043504)|negative regulation of DNA recombination (GO:0045910)|nucleotide-excision repair (GO:0006289)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	CTGTCCAAGCTCACCAAGGAG	0.552								Other BER factors																														ENST00000378526.4		NA																	0				endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31						c.(1159-1161)cTc>cAc	Other BER factors	ligase III, DNA, ATP-dependent	Bleomycin(DB00290)						70.0	62.0	65.0					17																	33318808		2203	4300	6503	SO:0001583	missense	3980				base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding	g.chr17:33318808T>A		CCDS11284.2, CCDS11285.2	17q11.2-q12	2008-10-29			ENSG00000005156	ENSG00000005156			6600	protein-coding gene	gene with protein product		600940	"""ligase II, DNA, ATP-dependent"""	LIG2		7760816	Standard	NM_002311		Approved		uc002hik.2	P49916	OTTHUMG00000128519	ENST00000378526.4:c.1160T>A	17.37:g.33318808T>A	ENSP00000367787:p.Leu387His	False	False		Somatic	0				LIG3_ENST00000262327.5_Missense_Mutation_p.L387H	p.L387H	NM_013975.3	NP_039269.2	WXS	Illumina HiSeq	Phase_I	P49916	DNLI3_HUMAN			6	1293	+		Ovarian(249;0.17)	387					Q16714|Q6NVK3	Missense_Mutation	SNP	ENST00000378526.4	37	c.1160T>A	CCDS11284.2	.	.	.	.	.	.	.	.	.	.	T	24.0	4.480006	0.84747	.	.	ENSG00000005156	ENST00000378526;ENST00000262327	T;T	0.21191	2.02;2.02	5.5	5.5	0.81552	DNA ligase, ATP-dependent, N-terminal (3);	0.064354	0.64402	D	0.000004	T	0.46444	0.1393	M	0.78049	2.395	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.70935	0.971;0.971;0.957	T	0.38090	-0.9677	10	0.36615	T	0.2	-20.8443	14.9457	0.71029	0.0:0.0:0.0:1.0	.	387;387;387	E5KLB5;P49916;E5KLB6	.;DNLI3_HUMAN;.	H	387	ENSP00000367787:L387H;ENSP00000262327:L387H	ENSP00000262327:L387H	L	+	2	0	LIG3	30342921	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	7.672000	0.83956	2.308000	0.77769	0.533000	0.62120	CTC		0.552	LIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250330.3	0	NM_013975		17:33318808
EMC1	23065	broad.mit.edu	37	1	19563697	19563697	+	Silent	SNP	T	T	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:19563697T>A	ENST00000477853.1	-	12	1290	c.1248A>T	c.(1246-1248)tcA>tcT	p.S416S	RP1-43E13.2_ENST00000437898.1_RNA|EMC1_ENST00000375199.3_Silent_p.S415S|EMC1_ENST00000375208.3_Silent_p.S394S	NM_001271427.1|NM_001271428.1|NM_015047.2	NP_001258356.1|NP_001258357.1|NP_055862.1	Q8N766	EMC1_HUMAN	ER membrane protein complex subunit 1	416						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											GGTAGCCCACTGAGTCATCCT	0.483																																						ENST00000477853.1		NA																	0					NA						c.(1246-1248)tcA>tcT		ER membrane protein complex subunit 1							200.0	193.0	196.0					1																	19563697		2203	4300	6503	SO:0001819	synonymous_variant	23065							g.chr1:19563697T>A		CCDS190.1, CCDS59190.1, CCDS59191.1	1p36.13	2012-05-23	2012-05-23	2012-05-23	ENSG00000127463	ENSG00000127463			28957	protein-coding gene	gene with protein product			"""KIAA0090"""	KIAA0090		22119785	Standard	NM_015047		Approved		uc001bbo.4	Q8N766	OTTHUMG00000002497	ENST00000477853.1:c.1248A>T	1.37:g.19563697T>A		False	False		Somatic	0				RP1-43E13.2_ENST00000437898.1_RNA|EMC1_ENST00000375199.3_Silent_p.S415S|EMC1_ENST00000375208.3_Silent_p.S394S	p.S416S	NM_001271427.1|NM_001271428.1|NM_015047.2	NP_001258356.1|NP_001258357.1|NP_055862.1	WXS	Illumina HiSeq	Phase_I					12	1290	-			NA					A8K6F3|Q14700|Q5TG62|Q63HL0|Q63HL3|Q8NBH8	Silent	SNP	ENST00000477853.1	37	c.1248A>T	CCDS190.1	.	.	.	.	.	.	.	.	.	.	T	10.78	1.447363	0.25987	.	.	ENSG00000127463	ENST00000375197	.	.	.	6.07	-12.1	0.00011	.	0.052548	0.85682	D	0.000000	T	0.48277	0.1491	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69548	-0.5116	6	0.87932	D	0	-15.318	3.3237	0.07059	0.1582:0.317:0.3859:0.1389	.	.	.	.	C	150	.	ENSP00000364343:S150C	S	-	1	0	KIAA0090	19436284	0.000000	0.05858	0.198000	0.23420	0.999000	0.98932	-6.580000	0.00060	-3.092000	0.00247	0.533000	0.62120	AGT		0.483	EMC1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000007076.2	0	NM_015047		1:19563697
TNFAIP8L1	126282	broad.mit.edu	37	19	4652052	4652052	+	Silent	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:4652052G>A	ENST00000536716.1	+	2	317	c.171G>A	c.(169-171)caG>caA	p.Q57Q	TNFAIP8L1_ENST00000327473.4_Silent_p.Q57Q|AC005339.2_ENST00000598070.1_RNA	NM_001167942.1	NP_001161414.1	Q8WVP5	TP8L1_HUMAN	tumor necrosis factor, alpha-induced protein 8-like 1	57					negative regulation of TOR signaling (GO:0032007)	cytoplasm (GO:0005737)				endometrium(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGAGGCCCAGAAGATGCTCA	0.662																																						ENST00000536716.1		NA																	0				endometrium(1)	1						c.(169-171)caG>caA		tumor necrosis factor, alpha-induced protein 8-like 1							57.0	56.0	56.0					19																	4652052		2203	4299	6502	SO:0001819	synonymous_variant	126282							g.chr19:4652052G>A	BC017672	CCDS12132.1	19p13.3	2008-02-05				ENSG00000185361			28279	protein-coding gene	gene with protein product		615869				12477932	Standard	NM_001167942		Approved	MGC17791	uc002max.3	Q8WVP5		ENST00000536716.1:c.171G>A	19.37:g.4652052G>A		False	False		Somatic	0				TNFAIP8L1_ENST00000327473.4_Silent_p.Q57Q	p.Q57Q	NM_001167942.1	NP_001161414.1	WXS	Illumina HiSeq	Phase_I	Q8WVP5	TP8L1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)	2	317	+			57					D6W627	Silent	SNP	ENST00000536716.1	37	c.171G>A	CCDS12132.1																																																																																				0.662	TNFAIP8L1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458662.1	0	NM_152362		19:4652052
TJP1	7082	broad.mit.edu	37	15	30001114	30001114	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr15:30001114G>A	ENST00000346128.6	-	25	4973	c.4499C>T	c.(4498-4500)cCc>cTc	p.P1500L	TJP1_ENST00000400011.2_Missense_Mutation_p.P1424L|TJP1_ENST00000545208.2_Missense_Mutation_p.P1420L|TJP1_ENST00000356107.6_Missense_Mutation_p.P1500L	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1500					apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		ACTTTTCTGGGGATAGAAAGC	0.438																																					Melanoma(77;681 1843 6309 6570)	ENST00000346128.6		NA																	0				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68						c.(4498-4500)cCc>cTc		tight junction protein 1							165.0	157.0	159.0					15																	30001114		1853	4100	5953	SO:0001583	missense	7082				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction		g.chr15:30001114G>A		CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"""zona occludens 1"", ""tight junction protein ZO-1"""	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.4499C>T	15.37:g.30001114G>A	ENSP00000281537:p.Pro1500Leu	True	False		Somatic	0				TJP1_ENST00000545208.2_Missense_Mutation_p.P1420L|TJP1_ENST00000356107.6_Missense_Mutation_p.P1500L|TJP1_ENST00000400011.2_Missense_Mutation_p.P1424L	p.P1500L	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	WXS	Illumina HiSeq	Phase_I	Q07157	ZO1_HUMAN		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)	25	4973	-		all_lung(180;7.48e-11)|Breast(32;0.000153)	1500					B4E3K1|Q2NKP3|Q4ZGJ6	Missense_Mutation	SNP	ENST00000346128.6	37	c.4499C>T	CCDS42007.1	.	.	.	.	.	.	.	.	.	.	G	17.37	3.371619	0.61624	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	T;T	0.59083	0.29;0.29	5.61	5.61	0.85477	.	0.111909	0.64402	D	0.000008	T	0.63593	0.2524	L	0.50333	1.59	0.80722	D	1	B;B;B;P	0.45827	0.005;0.001;0.009;0.867	B;B;B;P	0.48030	0.009;0.002;0.016;0.564	T	0.65747	-0.6093	10	0.87932	D	0	.	19.8945	0.96949	0.0:0.0:1.0:0.0	.	1493;1420;1500;1424	A9CQZ8;Q07157-2;Q07157;G5E9E7	.;.;ZO1_HUMAN;.	L	1500;1424;1500;1420;1420	ENSP00000281537:P1500L;ENSP00000382890:P1424L	ENSP00000281537:P1500L	P	-	2	0	TJP1	27788406	1.000000	0.71417	0.902000	0.35471	0.988000	0.76386	9.263000	0.95617	2.937000	0.99478	0.650000	0.86243	CCC		0.438	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	0	NM_003257		15:30001114
ALG12	79087	broad.mit.edu	37	22	50303671	50303671	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr22:50303671C>T	ENST00000330817.6	-	5	808	c.535G>A	c.(535-537)Gcc>Acc	p.A179T		NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN	ALG12, alpha-1,6-mannosyltransferase	179					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-1,6-mannosyltransferase activity (GO:0000009)|dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase activity (GO:0052917)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		ACGATGATGGCGAAGGCTGAC	0.637																																						ENST00000330817.6		NA																	0				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12						c.(535-537)Gcc>Acc		ALG12, alpha-1,6-mannosyltransferase							51.0	48.0	49.0					22																	50303671		2203	4300	6503	SO:0001583	missense	79087				dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane		g.chr22:50303671C>T	AJ303120	CCDS14081.1	22q13.33	2013-02-26	2013-02-26		ENSG00000182858	ENSG00000182858	2.4.1.260	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	19358	protein-coding gene	gene with protein product	"""dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichol alpha-1,6-mannosyltransferase"", ""dol-P-Man dependent alpha-1,6-mannosyltransferase"""	607144	"""asparagine-linked glycosylation 12 homolog (yeast, alpha-1,6-mannosyltransferase)"", ""asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae)"""			11983712	Standard	NM_024105		Approved	ECM39	uc003biy.3	Q9BV10	OTTHUMG00000150289	ENST00000330817.6:c.535G>A	22.37:g.50303671C>T	ENSP00000333813:p.Ala179Thr	False	False		Somatic	0					p.A179T	NM_024105.3	NP_077010.1	WXS	Illumina HiSeq	Phase_I	Q9BV10	ALG12_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)	5	808	-		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)	NA					A6PWM1|Q4KMH4|Q8NG10|Q96AA4	Missense_Mutation	SNP	ENST00000330817.6	37	c.535G>A	CCDS14081.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.939391	0.52972	.	.	ENSG00000182858	ENST00000330817	T	0.64991	-0.13	4.44	3.42	0.39159	.	0.161366	0.53938	D	0.000044	T	0.65729	0.2719	L	0.58302	1.8	0.42474	D	0.992838	D	0.54772	0.968	P	0.51079	0.658	T	0.66559	-0.5893	10	0.35671	T	0.21	-16.6342	13.9771	0.64279	0.0:0.9236:0.0:0.0764	.	179	Q9BV10	ALG12_HUMAN	T	179	ENSP00000333813:A179T	ENSP00000333813:A179T	A	-	1	0	ALG12	48689675	0.995000	0.38212	0.008000	0.14137	0.008000	0.06430	3.331000	0.52075	1.166000	0.42689	-0.205000	0.12727	GCC		0.637	ALG12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317405.2	0	NM_024105		22:50303671
C20orf96	140680	broad.mit.edu	37	20	257686	257686	+	Splice_Site	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr20:257686G>A	ENST00000360321.2	-	8	962	c.824C>T	c.(823-825)gCg>gTg	p.A275V	C20orf96_ENST00000400269.3_Splice_Site_p.A217V|C20orf96_ENST00000382369.5_Splice_Site_p.A240V	NM_080571.1|NM_153269.2	NP_542138.1|NP_695001.2	Q9NUD7	CT096_HUMAN	chromosome 20 open reading frame 96	275										endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12		all_cancers(10;0.00959)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			GCTACTCACCGCCACCACAGA	0.572																																						ENST00000360321.2		NA																	0				endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(823-825)gCg>gTg		chromosome 20 open reading frame 96							121.0	135.0	130.0					20																	257686		2203	4300	6503	SO:0001630	splice_region_variant	140680							g.chr20:257686G>A	AL034548	CCDS12994.1, CCDS74685.1	20p13	2012-10-30			ENSG00000196476	ENSG00000196476			16227	protein-coding gene	gene with protein product							Standard	NM_153269		Approved	dJ1103G7.2	uc002wde.2	Q9NUD7	OTTHUMG00000031626	ENST00000360321.2:c.825+1C>T	20.37:g.257686G>A		False	False		Somatic	0				C20orf96_ENST00000382369.5_Splice_Site_p.A240V|C20orf96_ENST00000400269.3_Splice_Site_p.A217V	p.A275V	NM_080571.1|NM_153269.2	NP_542138.1|NP_695001.2	WXS	Illumina HiSeq	Phase_I	Q9NUD7	CT096_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.149)		8	962	-		all_cancers(10;0.00959)|Lung NSC(37;0.227)	275					A3KPE0|B2RPH9|Q8N840|Q8NAX5	Splice_Site	SNP	ENST00000360321.2	37	c.824C>T	CCDS12994.1	.	.	.	.	.	.	.	.	.	.	G	2.159	-0.392647	0.04899	.	.	ENSG00000196476	ENST00000382369;ENST00000360321;ENST00000400269	T;T;T	0.40225	1.04;1.04;1.04	4.52	-5.41	0.02648	.	1.137630	0.06635	N	0.759972	T	0.10508	0.0257	N	0.01188	-0.97	0.09310	N	1	B;B;B;B	0.20052	0.041;0.041;0.015;0.041	B;B;B;B	0.11329	0.006;0.006;0.003;0.006	T	0.28744	-1.0034	10	0.02654	T	1	-0.4171	4.6073	0.12383	0.2215:0.0:0.1966:0.5818	.	217;240;275;240	F5GZA9;B7Z971;Q9NUD7;Q5JYC3	.;.;CT096_HUMAN;.	V	240;275;217	ENSP00000371806:A240V;ENSP00000353470:A275V;ENSP00000383128:A217V	ENSP00000353470:A275V	A	-	2	0	C20orf96	205686	0.002000	0.14202	0.026000	0.17262	0.173000	0.22820	-0.258000	0.08733	-0.734000	0.04843	0.313000	0.20887	GCG		0.572	C20orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077439.2	0	NM_153269	Missense_Mutation	20:257686
ANKRD30B	374860	broad.mit.edu	37	18	14763906	14763906	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr18:14763906G>A	ENST00000358984.4	+	7	1222	c.1042G>A	c.(1042-1044)Gag>Aag	p.E348K	ANKRD30B_ENST00000447268.2_Missense_Mutation_p.E348K|ANKRD30B_ENST00000579292.1_Intron	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	348										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						AGAAACATCTGAGAAATTTTC	0.393																																						ENST00000358984.4		NA																	0				breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						c.(1042-1044)Gag>Aag		ankyrin repeat domain 30B							73.0	65.0	68.0					18																	14763906		692	1591	2283	SO:0001583	missense	374860							g.chr18:14763906G>A	BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"""Ankyrin repeat domain containing"""	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.1042G>A	18.37:g.14763906G>A	ENSP00000351875:p.Glu348Lys	False	False		Somatic	0				ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Missense_Mutation_p.E348K	p.E348K	NM_001145029.1	NP_001138501.1	WXS	Illumina HiSeq	Phase_I	Q9BXX2	AN30B_HUMAN			7	1222	+			348					B4DGP1|F8WAG3|Q4G175	Missense_Mutation	SNP	ENST00000358984.4	37	c.1042G>A	CCDS54182.1	.	.	.	.	.	.	.	.	.	.	N	10.36	1.329554	0.24167	.	.	ENSG00000180777	ENST00000358984;ENST00000447268	T;T	0.37058	1.22;1.28	0.235	0.235	0.15431	.	.	.	.	.	T	0.23370	0.0565	L	0.47716	1.5	0.09310	N	1	P	0.45594	0.862	B	0.34722	0.188	T	0.12915	-1.0529	8	0.30854	T	0.27	.	.	.	.	.	348	F8WAG3	.	K	348	ENSP00000351875:E348K;ENSP00000399031:E348K	ENSP00000351875:E348K	E	+	1	0	ANKRD30B	14753906	0.019000	0.18553	0.009000	0.14445	0.009000	0.06853	0.308000	0.19314	0.308000	0.22923	0.313000	0.20887	GAG		0.393	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443557.1	0	NM_001145029		18:14763906
SIPA1L3	23094	broad.mit.edu	37	19	38682812	38682812	+	Silent	SNP	C	C	T	rs569236464		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:38682812C>T	ENST00000222345.6	+	17	4967	c.4458C>T	c.(4456-4458)gtC>gtT	p.V1486V		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1486					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CCAAAAATGTCTTTGGGCAAC	0.522																																						ENST00000222345.6		NA																	0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59						c.(4456-4458)gtC>gtT		signal-induced proliferation-associated 1 like 3							112.0	93.0	99.0					19																	38682812		2203	4300	6503	SO:0001819	synonymous_variant	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38682812C>T	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.4458C>T	19.37:g.38682812C>T		True	False		Somatic	0					p.V1486V	NM_015073.1	NP_055888.1	WXS	Illumina HiSeq	Phase_I	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		17	4967	+			1486					Q2TV87	Silent	SNP	ENST00000222345.6	37	c.4458C>T	CCDS33007.1																																																																																				0.522	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	0	XM_032278		19:38682812
NF1	4763	broad.mit.edu	37	17	29652851	29652851	+	Nonsense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr17:29652851C>T	ENST00000358273.4	+	37	5232	c.4849C>T	c.(4849-4851)Caa>Taa	p.Q1617*	NF1_ENST00000581113.2_3'UTR|NF1_ENST00000356175.3_Nonsense_Mutation_p.Q1596*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1617	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.|Lipid binding.				actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CAAAACTGGTCAAATCAATGG	0.323			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4		NA	yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	11	Whole gene deletion(8)|Unknown(3)	p.0?(8)|p.?(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(4849-4851)Caa>Taa		neurofibromin 1							88.0	89.0	89.0					17																	29652851		2203	4300	6503	SO:0001587	stop_gained	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29652851C>T		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.4849C>T	17.37:g.29652851C>T	ENSP00000351015:p.Gln1617*	True	False	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)	Somatic	0				NF1_ENST00000581113.2_3'UTR|NF1_ENST00000356175.3_Nonsense_Mutation_p.Q1596*	p.Q1617*	NM_001042492.2	NP_001035957.1	WXS	Illumina HiSeq	Phase_I	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	37	5232	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	1617			CRAL-TRIO.		O00662|Q14284|Q14930|Q14931|Q9UMK3	Nonsense_Mutation	SNP	ENST00000358273.4	37	c.4849C>T	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	C	47	13.673406	0.99756	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	18.7588	0.91842	0.0:1.0:0.0:0.0	.	.	.	.	X	1617;1596;1262	.	ENSP00000348498:Q1596X	Q	+	1	0	NF1	26676977	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.456000	0.80751	2.697000	0.92050	0.655000	0.94253	CAA		0.323	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	0	NM_000267		17:29652851
DGCR8	54487	broad.mit.edu	37	22	20096497	20096497	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr22:20096497G>A	ENST00000351989.3	+	13	2638	c.2209G>A	c.(2209-2211)Gag>Aag	p.E737K	AC006547.8_ENST00000412713.1_RNA|DGCR8_ENST00000407755.1_Missense_Mutation_p.E704K|DGCR8_ENST00000383024.2_Missense_Mutation_p.E704K	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	737	Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA.				gene expression (GO:0010467)|primary miRNA processing (GO:0031053)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					CAAGCTCCAAGAGGAGATGAA	0.577																																						ENST00000351989.3		NA																	0				NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22						c.(2209-2211)Gag>Aag		DGCR8 microprocessor complex subunit							153.0	120.0	131.0					22																	20096497		2203	4300	6503	SO:0001583	missense	54487				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding	g.chr22:20096497G>A	AF165527, AB050770	CCDS13773.1, CCDS54501.1	22q11.2	2013-05-02	2013-05-02		ENSG00000128191	ENSG00000128191			2847	protein-coding gene	gene with protein product		609030	"""chromosome 22 open reading frame 12"", ""DiGeorge syndrome critical region gene 8"""	C22orf12		21454614	Standard	NM_001190326		Approved	DGCRK6, Gy1, pasha	uc002zri.3	Q8WYQ5	OTTHUMG00000150503	ENST00000351989.3:c.2209G>A	22.37:g.20096497G>A	ENSP00000263209:p.Glu737Lys	False	False		Somatic	0				DGCR8_ENST00000383024.2_Missense_Mutation_p.E704K|DGCR8_ENST00000407755.1_Missense_Mutation_p.E704K	p.E737K	NM_022720.6	NP_073557.3	WXS	Illumina HiSeq	Phase_I	Q8WYQ5	DGCR8_HUMAN			13	2638	+	Colorectal(54;0.0993)		737			Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA.		B2R8G1|Q6DCB2|Q6MZE9|Q6Y2L0|Q96G39|Q96GP8|Q9H6L8|Q9H6T7|Q9NRW2	Missense_Mutation	SNP	ENST00000351989.3	37	c.2209G>A	CCDS13773.1	.	.	.	.	.	.	.	.	.	.	G	32	5.181797	0.94885	.	.	ENSG00000128191	ENST00000351989;ENST00000383024;ENST00000407755	T;T;T	0.33216	1.42;1.51;1.51	5.22	5.22	0.72569	.	0.048942	0.85682	D	0.000000	T	0.45115	0.1326	L	0.34521	1.04	0.80722	D	1	D;D	0.67145	0.996;0.99	D;P	0.76071	0.987;0.824	T	0.21314	-1.0249	10	0.33141	T	0.24	-10.5121	17.5395	0.87843	0.0:0.0:1.0:0.0	.	704;737	Q8WYQ5-3;Q8WYQ5	.;DGCR8_HUMAN	K	737;704;704	ENSP00000263209:E737K;ENSP00000372488:E704K;ENSP00000384726:E704K	ENSP00000263209:E737K	E	+	1	0	DGCR8	18476497	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	9.096000	0.94182	2.428000	0.82296	0.462000	0.41574	GAG		0.577	DGCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318654.1	0			22:20096497
