#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_CCF_CI95_high	i_CCF_CI95_low	i_CCF_CI_high	i_CCF_CI_low	i_CCF_hat	i_CCF_mean	i_CCF_median	i_CCF_mode	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_CancerGermlineMut	i_CGC_CancerMolecularGenetics	i_CGC_CancerSomaticMut	i_CGC_CancerSyndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_ChrBand	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_OtherGermlineMut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_TissueType	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_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_ExAC_AC	i_ExAC_AN	i_ExAC_LQ	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_IS_SCNA	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SCNA_NA	i_SCNA_NB	i_SCNA_q_hat	i_SCNA_tau	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_bcgsc	i_broad	i_build	i_cDNA_Change	i_ccds_id	i_clonal	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_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_folddegenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_hg18_pos1coor	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_dna_fraction_in_tumor	i_entrez_gene_id	i_external_id_capture	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_hgsc	i_igv_bad	i_localAssembly_detected	i_min_val_count_KRAS	i_min_val_count_localAssembly	i_min_val_count_rna	i_min_val_count_targeted	i_n_alt_count	i_n_alt_count_KRAS	i_n_alt_count_full	i_n_alt_count_localAssembly	i_n_ref_count	i_n_ref_count_KRAS	i_n_ref_count_full	i_n_ref_count_localAssembly	i_passExAC	i_ploidy	i_pon_loglike	i_pon_pass_loglike	i_purity	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_KRAS	i_t_alt_count_full	i_t_alt_count_localAssembly	i_t_ref_count_KRAS	i_t_ref_count_full	i_t_ref_count_localAssembly	i_ucsc	i_validation_judgement_KRAS	i_validation_judgement_localAssembly	i_validation_judgement_rna	i_validation_judgement_targeted	i_validation_normal_alt_count_rna	i_validation_normal_alt_count_targeted	i_validation_normal_ref_count_rna	i_validation_normal_ref_count_targeted	i_validation_power_KRAS	i_validation_power_localAssembly	i_validation_power_rna	i_validation_power_targeted	i_validation_tumor_alt_count_rna	i_validation_tumor_alt_count_targeted	i_validation_tumor_ref_count_rna	i_validation_tumor_ref_count_targeted	t_alt_count	t_ref_count
ST8SIA6	338596	broad.mit.edu	37	10	17363216	17363216	+	Silent	SNP	C	C	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr10:17363216C>T	ENST00000377602.4	-	8	932	c.858G>A	c.(856-858)acG>acA	p.T286T		NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	286					carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|ganglioside biosynthetic process (GO:0001574)|glycolipid biosynthetic process (GO:0009247)|glycoprotein metabolic process (GO:0009100)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked glycosylation (GO:0006493)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	sialyltransferase activity (GO:0008373)			endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						ACTCTTCGAGCGTGTAGTATA	0.433																																						ENST00000377602.4	1.000000	0.590000	1.000000	0.640000	0.700000	0.756235	0.700000	0.700000																										0				37						c.(856-858)acG>acA		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6							139.0	146.0	144.0					10																	17363216		2203	4300	6503	SO:0001819	synonymous_variant	338596	1	121412	34				g.chr10:17363216C>T		CCDS31158.1	10p13	2013-03-01	2005-02-07	2005-02-07	ENSG00000148488	ENSG00000148488		"""Sialyltransferases"""	23317	protein-coding gene	gene with protein product	"""ST8Sia VI"""	610139	"""sialyltransferase 8F (alpha-2, 8-sialyltransferase)"""	SIAT8F		11980897	Standard	XR_242697		Approved		uc001ipd.3	P61647	OTTHUMG00000017748	ENST00000377602.4:c.858G>A	chr10.hg19:g.17363216C>T		1						p.T286T	NM_001004470.1	NP_001004470.1	1	4	5	3.268407	P61647	SIA8F_HUMAN		8	932	-			B0YJ97|B9EH72|Q5VZH4	Silent	SNP	ENST00000377602.4	1	1	hg19	c.858G>A	CCDS31158.1	0	.	.	.	.	.	.	.	.	.	.	C	0.021	-1.420576	0.01136	.	.	ENSG00000148488	ENST00000440449	.	.	.	5.18	-7.5	0.01351	5.18	-7.5	0.01351	.	.	.	.	.	T	0.30978	0.0782	.	.	.	0.32113	N	0.589013	.	.	.	.	.	.	T	0.36359	-0.9751	4	.	.	.	0.8831	5.9037	0.18980	0.2924:0.3042:0.0:0.4034	.	.	.	.	T	107	.	.	A	-	1	0	0	ST8SIA6	17403222	17403222	0.002000	0.14202	0.002000	0.10522	0.018000	0.09664	-1.684000	0.01932	-1.523000	0.01767	-1.154000	0.01816	GCT	0.764890		TCGA-HV-A5A3-01A-11D-A26I-08	0.433	ST8SIA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047036.1	1	0	1	2	2	2	2	0	0	0	0	112	112	112	110	1	2.040000	-3.318794	1	0.610000	NM_001004470		0	183	181	0	1249	1243	1		1			0	0	112	0	0	1.000000	0	0	0	0	0	0	183	1249
PCDH15	65217	broad.mit.edu	37	10	55826528	55826528	+	Missense_Mutation	SNP	C	C	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr10:55826528C>A	ENST00000320301.6	-	18	2603	c.2209G>T	c.(2209-2211)Ggt>Tgt	p.G737C	PCDH15_ENST00000414778.1_Missense_Mutation_p.G742C|PCDH15_ENST00000395445.1_Missense_Mutation_p.G744C|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.G737C|PCDH15_ENST00000373957.3_Missense_Mutation_p.G715C|PCDH15_ENST00000373955.1_Missense_Mutation_p.G737C|PCDH15_ENST00000395430.1_Missense_Mutation_p.G737C|PCDH15_ENST00000395433.1_Missense_Mutation_p.G715C|PCDH15_ENST00000409834.1_Missense_Mutation_p.G348C|PCDH15_ENST00000437009.1_Missense_Mutation_p.G666C|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.G737C|PCDH15_ENST00000395432.2_Missense_Mutation_p.G700C|PCDH15_ENST00000373965.2_Missense_Mutation_p.G744C	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	737	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)	p.G742S(2)|p.G737S(2)		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)				TTTACTTGACCCACAAAGGCA	0.328										HNSCC(58;0.16)																												ENST00000320301.6	1.000000	0.720000	0.980000	0.800000	0.880000	0.887296	0.880000	1.000000																										4	Substitution - Missense(4)	p.G742S(2)|p.G737S(2)	lung(4)	237						c.(2209-2211)Ggt>Tgt		protocadherin-related 15							88.0	83.0	85.0					10																	55826528		2203	4300	6503	SO:0001583	missense	65217	0	0					g.chr10:55826528C>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	ENST00000320301.6:c.2209G>T	chr10.hg19:g.55826528C>A	ENSP00000322604:p.Gly737Cys	0	HNSCC(58;0.16)				PCDH15_ENST00000395433.1_Missense_Mutation_p.G715C|PCDH15_ENST00000373965.2_Missense_Mutation_p.G744C|PCDH15_ENST00000395430.1_Missense_Mutation_p.G737C|PCDH15_ENST00000373957.3_Missense_Mutation_p.G715C|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.G348C|PCDH15_ENST00000395438.1_Missense_Mutation_p.G737C|PCDH15_ENST00000361849.3_Missense_Mutation_p.G737C|PCDH15_ENST00000437009.1_Missense_Mutation_p.G666C|PCDH15_ENST00000395445.1_Missense_Mutation_p.G744C|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.G700C|PCDH15_ENST00000373955.1_Missense_Mutation_p.G737C|PCDH15_ENST00000414778.1_Missense_Mutation_p.G742C	p.G737C	NM_033056.3	NP_149045.3	1	2	3	2.042279	Q96QU1	PCD15_HUMAN		18	2603	-		Melanoma(3;0.117)|Lung SC(717;0.238)	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	1	1	hg19	c.2209G>T	CCDS7248.1	1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.170170	0.78452	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T	0.63255	0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;-0.03;0.58;0.58;0.58;0.58	5.85	5.85	0.93711	5.85	5.85	0.93711	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.67249	0.2873	L	0.60067	1.865	0.80722	D	1	B;B;B;B;B;B;B;B;P;B;P;P;B;P;P	0.40553	0.289;0.045;0.186;0.097;0.285;0.045;0.289;0.254;0.529;0.289;0.529;0.529;0.037;0.721;0.529	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.44163	0.33;0.071;0.208;0.16;0.232;0.104;0.33;0.35;0.443;0.232;0.33;0.33;0.067;0.32;0.33	T	0.69957	-0.5004	9	0.87932	D	0	.	18.9349	0.92582	0.0:1.0:0.0:0.0	.	715;737;737;742;666;700;737;737;744;744;737;742;737;715;737	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	C	744;742;737;737;348;744;700;737;715;715;737;737;742;666;737	ENSP00000363076:G744C;ENSP00000410304:G742C;ENSP00000378826:G737C;ENSP00000386693:G348C;ENSP00000378832:G744C;ENSP00000378820:G700C;ENSP00000354950:G737C;ENSP00000378821:G715C;ENSP00000363068:G715C;ENSP00000322604:G737C;ENSP00000378818:G737C;ENSP00000412628:G666C;ENSP00000363066:G737C	ENSP00000322604:G737C	G	-	1	0	0	PCDH15	55496534	55496534	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.661000	0.61518	2.773000	0.95371	0.655000	0.94253	GGT	0.617009		TCGA-HV-A5A3-01A-11D-A26I-08	0.328	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	1	0	1	2	2	2	2	0	0	0	0	36	36	36	36	1	2.040000	-5.551275	1	0.610000	NM_033056		0	89	88	0	248	244	1		1			0	0	36	0	0	1.000000	0	0	0	0	0	0	89	248
ABLIM1	3983	broad.mit.edu	37	10	116444085	116444085	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr10:116444085G>A	ENST00000369252.4	-	1	329	c.28C>T	c.(28-30)Ctc>Ttc	p.L10F	ABLIM1_ENST00000533213.2_Missense_Mutation_p.L10F	NM_001003407.1|NM_001003408.1	NP_001003407.1|NP_001003408.1	O14639	ABLM1_HUMAN	actin binding LIM protein 1	0					axon guidance (GO:0007411)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|visual perception (GO:0007601)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		GGGTCCGTGAGCTCAGTCATT	0.463																																						ENST00000369252.4	1.000000	0.790000	1.000000	0.870000	0.950000	0.944212	0.950000	1.000000																										0				30						c.(28-30)Ctc>Ttc		actin binding LIM protein 1							206.0	165.0	179.0					10																	116444085		2203	4300	6503	SO:0001583	missense	3983	0	0					g.chr10:116444085G>A	AF005654	CCDS7590.1, CCDS31289.1	10q25	2008-07-07		2002-09-13	ENSG00000099204	ENSG00000099204			78	protein-coding gene	gene with protein product		602330		LIMAB1, ABLIM		9245787	Standard	NM_002313		Approved	abLIM, limatin	uc021pyw.1	O14639	OTTHUMG00000019088	ENST00000369252.4:c.28C>T	chr10.hg19:g.116444085G>A	ENSP00000358256:p.Leu10Phe	0					ABLIM1_ENST00000533213.2_Missense_Mutation_p.L10F	p.L10F	NM_001003407.1|NM_001003408.1	NP_001003407.1|NP_001003408.1	1	2	3	2.062064	O14639	ABLM1_HUMAN		1	329	-		Colorectal(252;0.0373)|Breast(234;0.231)	A6NI16|A6NJ06|A8MXA9|B3KVH2|Q15039|Q5JVV1|Q5JVV2|Q5T6N2|Q5T6N3|Q5T6N5|Q68CQ9|Q9BUP1	Missense_Mutation	SNP	ENST00000369252.4	1	1	hg19	c.28C>T	CCDS31288.1	1	.	.	.	.	.	.	.	.	.	.	G	11.34	1.609503	0.28623	.	.	ENSG00000099204	ENST00000369252;ENST00000369267;ENST00000533213	T;T	0.28069	1.63;1.63	5.87	3.94	0.45596	5.87	3.94	0.45596	.	.	.	.	.	T	0.14570	0.0352	N	0.08118	0	0.25237	N	0.989784	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.28902	-1.0029	9	0.18710	T	0.47	.	7.6005	0.28073	0.0929:0.1705:0.7367:0.0	.	10;10;10	F8W8M4;A6NKJ2;B3KVH2	.;.;.	F	10	ENSP00000358256:L10F;ENSP00000433629:L10F	ENSP00000358256:L10F	L	-	1	0	0	ABLIM1	116434075	116434075	0.832000	0.29368	0.055000	0.19348	0.676000	0.39594	1.540000	0.36115	0.854000	0.35336	0.655000	0.94253	CTC	0.618152		TCGA-HV-A5A3-01A-11D-A26I-08	0.463	ABLIM1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		1	0	1	2	2	2	2	0	0	0	0	62	62	62	61	1	2.040000	-20.000000	1	0.610000			0	98	98	0	246	242	1		1	0		0	0	62	0	0	1.000000	0	0	1	0	0	0	98	246
MUC2	4583	broad.mit.edu	37	11	1077612	1077612	+	Missense_Mutation	SNP	A	A	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr11:1077612A>T	ENST00000441003.2	+	3	389	c.362A>T	c.(361-363)cAc>cTc	p.H121L	MUC2_ENST00000359061.5_Missense_Mutation_p.H121L	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	121	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	AGCACCCCGCACTACAGCCCC	0.682																																						ENST00000441003.2	1.000000	0.630000	1.000000	0.740000	0.870000	0.867138	0.870000	1.000000																										0				102						c.(361-363)cAc>cTc		mucin 2, oligomeric mucus/gel-forming	Pranlukast(DB01411)						27.0	33.0	31.0					11																	1077612		1953	4123	6076	SO:0001583	missense	4583	0	0					g.chr11:1077612A>T	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.362A>T	chr11.hg19:g.1077612A>T	ENSP00000415183:p.His121Leu	0					MUC2_ENST00000359061.5_Missense_Mutation_p.H121L	p.H121L	NM_002457.2	NP_002448.2	1	2	3	2.005398	Q02817	MUC2_HUMAN		3	389	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	Q14878	Missense_Mutation	SNP	ENST00000441003.2	1	1	hg19	c.362A>T		1	.	.	.	.	.	.	.	.	.	.	A	8.945	0.966802	0.18659	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.56776	0.44;0.44	3.52	2.34	0.29019	3.52	2.34	0.29019	.	0.298471	0.27185	U	0.020528	T	0.55513	0.1925	L	0.51422	1.61	0.26066	N	0.981282	B	0.26195	0.144	B	0.43360	0.417	T	0.57579	-0.7787	10	0.62326	D	0.03	.	9.8992	0.41338	0.8285:0.1715:0.0:0.0	.	121	E7EUV1	.	L	121	ENSP00000415183:H121L;ENSP00000351956:H121L	ENSP00000351956:H121L	H	+	2	0	0	MUC2	1067612	1067612	1.000000	0.71417	0.876000	0.34364	0.336000	0.28762	5.272000	0.65559	0.388000	0.25054	0.334000	0.21626	CAC	0.612365		TCGA-HV-A5A3-01A-11D-A26I-08	0.682	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	1	0	1	2	2	2	2	0	0	0	0	17	17	17	17	1	2.040000	-20.000000	1	0.610000	NM_002457		0	33	33	0	92	91	0		1	1		0	0	17	0	0	1.000000	7.320374e-02	0	2	0	0	0	33	92
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	KRAS_deep			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_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)	ENST00000256078.4	1.000000	0.990000	1.000000	0.990000	0.990000	1.000000	0.990000	1.000000	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			Dom	yes		12	12p12.1	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog				"""L, E, M, O"""	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)	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	2	121404	44	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	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	chr12.hg19:g.25398284C>T	ENSP00000256078:p.Gly12Asp	1	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D	p.G12D	NM_033360.2	NP_203524.1	0	4	4	2.243856	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	98	-	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)		A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	0	1	hg19	c.35G>A	CCDS8703.1	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	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	0	KRAS	25289551	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	0.656145		TCGA-HV-A5A3-01A-11D-A26I-08	0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	1	2	2	2	2	0	0	0	0	13	13	13	13	1	2.040000	-20.000000	1	0.610000	NM_033360		4030	54	54	3985	52	51	1	1	1	1	1	0	0	13	466	1	1.000000	9.998535e-01	1	9	242	9	345	54	52
ENOX1	55068	broad.mit.edu	37	13	43934128	43934128	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr13:43934128G>A	ENST00000261488.6	-	7	1025	c.448C>T	c.(448-450)Cca>Tca	p.P150S	ENOX1_ENST00000482207.1_5'UTR|ENOX1_ENST00000412891.1_Missense_Mutation_p.P150S|ENOX1_ENST00000540032.1_5'UTR	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	150	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				rhythmic process (GO:0048511)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		GCATTTTCTGGTAATCCTCCG	0.388																																						ENST00000261488.6	1.000000	0.870000	1.000000	0.950000	0.990000	0.982723	0.990000	1.000000																										0				34						c.(448-450)Cca>Tca		ecto-NOX disulfide-thiol exchanger 1							88.0	82.0	84.0					13																	43934128		2203	4300	6503	SO:0001583	missense	55068	0	0					g.chr13:43934128G>A	EF432052	CCDS9389.1	13q14.11	2013-02-12			ENSG00000120658	ENSG00000120658		"""RNA binding motif (RRM) containing"""	25474	protein-coding gene	gene with protein product		610914				11360993	Standard	NM_001127615		Approved	FLJ10094, PIG38, CNOX, cCNOX	uc001uza.4	Q8TC92	OTTHUMG00000016818	ENST00000261488.6:c.448C>T	chr13.hg19:g.43934128G>A	ENSP00000261488:p.Pro150Ser	0					ENOX1_ENST00000412891.1_Missense_Mutation_p.P150S|ENOX1_ENST00000482207.1_5'UTR|ENOX1_ENST00000540032.1_5'UTR	p.P150S	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	1	2	3	2.026493	Q8TC92	ENOX1_HUMAN		7	1025	-		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)	A4GU15|A6NMH9|B7Z5K1|Q2TU81|Q5VT11|Q9NWE0	Missense_Mutation	SNP	ENST00000261488.6	1	1	hg19	c.448C>T	CCDS9389.1	1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.612841	0.87258	.	.	ENSG00000120658	ENST00000261488;ENST00000412891	T;T	0.78003	-1.14;-1.14	5.89	5.89	0.94794	5.89	5.89	0.94794	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	D	0.85044	0.5607	L	0.39514	1.22	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85213	0.1022	10	0.66056	D	0.02	2.8841	20.248	0.98401	0.0:0.0:1.0:0.0	.	150	Q8TC92	ENOX1_HUMAN	S	150	ENSP00000261488:P150S;ENSP00000415054:P150S	ENSP00000261488:P150S	P	-	1	0	0	ENOX1	42832128	42832128	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.414000	0.97362	2.790000	0.95986	0.655000	0.94253	CCA	0.615858		TCGA-HV-A5A3-01A-11D-A26I-08	0.388	ENOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044717.2	1	0	1	2	2	2	2	0	0	0	0	28	28	28	28	1	2.040000	-20.000000	1	0.610000	NM_017993		0	106	105	0	235	233	1		1			0	0	28	0	0	1.000000	0	0	0	0	0	0	106	235
NEK9	91754	broad.mit.edu	37	14	75590766	75590766	+	Missense_Mutation	SNP	T	T	G			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr14:75590766T>G	ENST00000238616.5	-	2	538	c.380A>C	c.(379-381)gAg>gCg	p.E127A		NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	127	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		ATATTCCAGCTCAATCAGCAG	0.408																																						ENST00000238616.5	1.000000	0.760000	0.990000	0.830000	0.900000	0.910717	0.900000	1.000000																										0				31						c.(379-381)gAg>gCg		NIMA-related kinase 9							166.0	150.0	155.0					14																	75590766		2203	4300	6503	SO:0001583	missense	91754	0	0					g.chr14:75590766T>G	AY048580	CCDS9839.1	14q24.2	2012-11-15	2012-11-15		ENSG00000119638	ENSG00000119638			18591	protein-coding gene	gene with protein product		609798	"""NIMA (never in mitosis gene a)- related kinase 9"""			11864968	Standard	NM_033116		Approved	Nek8, NERCC, DKFZp434D0935, MGC16714	uc001xrl.3	Q8TD19	OTTHUMG00000171768	ENST00000238616.5:c.380A>C	chr14.hg19:g.75590766T>G	ENSP00000238616:p.Glu127Ala	0						p.E127A	NM_033116.4	NP_149107.4	1	2	3	2.015909	Q8TD19	NEK9_HUMAN		2	538	-			Q52LK6|Q8NCN0|Q8TCY4|Q9UPI4|Q9Y6S4|Q9Y6S5|Q9Y6S6	Missense_Mutation	SNP	ENST00000238616.5	1	1	hg19	c.380A>C	CCDS9839.1	1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.550313	0.86127	.	.	ENSG00000119638	ENST00000238616;ENST00000540227;ENST00000557673;ENST00000553823	T;T;T	0.63913	1.94;-0.07;0.86	6.17	6.17	0.99709	6.17	6.17	0.99709	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.49541	0.1563	N	0.04373	-0.215	0.80722	D	1	P	0.38729	0.644	P	0.46510	0.519	T	0.52003	-0.8633	10	0.18276	T	0.48	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	127	Q8TD19	NEK9_HUMAN	A	127;109;9;9	ENSP00000238616:E127A;ENSP00000450943:E9A;ENSP00000452537:E9A	ENSP00000238616:E127A	E	-	2	0	0	NEK9	74660519	74660519	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	8.040000	0.89188	2.371000	0.80710	0.533000	0.62120	GAG	0.614701		TCGA-HV-A5A3-01A-11D-A26I-08	0.408	NEK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415021.1	1	0	1	2	2	2	2	0	0	0	0	50	50	50	50	1	2.040000	-20.000000	1	0.610000	NM_033116		0	113	113	0	299	298	1		1	1		0	0	50	0	0	1.000000	9.435293e-01	0	2	0	13	0	113	299
FLRT2	23768	broad.mit.edu	37	14	86087923	86087923	+	Missense_Mutation	SNP	T	T	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr14:86087923T>A	ENST00000330753.4	+	2	832	c.65T>A	c.(64-66)aTt>aAt	p.I22N	FLRT2_ENST00000554746.1_Missense_Mutation_p.I22N	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	22					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TGGCTTATCATTTCCCTGGGG	0.507																																						ENST00000330753.4	1.000000	0.730000	0.940000	0.790000	0.860000	0.871010	0.860000	0.860000																										0				73						c.(64-66)aTt>aAt		fibronectin leucine rich transmembrane protein 2							80.0	80.0	80.0					14																	86087923		2203	4300	6503	SO:0001583	missense	23768	0	0					g.chr14:86087923T>A	AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.65T>A	chr14.hg19:g.86087923T>A	ENSP00000332879:p.Ile22Asn	0					FLRT2_ENST00000554746.1_Missense_Mutation_p.I22N	p.I22N	NM_013231.4	NP_037363.1	1	2	3	2.015909	O43155	FLRT2_HUMAN		2	832	+			A0AV84|B7ZLP3	Missense_Mutation	SNP	ENST00000330753.4	1	1	hg19	c.65T>A	CCDS9877.1	1	.	.	.	.	.	.	.	.	.	.	T	19.59	3.856684	0.71834	.	.	ENSG00000185070	ENST00000330753;ENST00000554746	T;T	0.57752	0.38;0.38	5.73	5.73	0.89815	5.73	5.73	0.89815	.	0.451624	0.24838	N	0.035191	T	0.39226	0.1070	N	0.14661	0.345	0.39960	D	0.974659	B	0.31790	0.34	B	0.30855	0.121	T	0.45585	-0.9251	10	0.87932	D	0	-1.5983	16.0233	0.80516	0.0:0.0:0.0:1.0	.	22	O43155	FLRT2_HUMAN	N	22	ENSP00000332879:I22N;ENSP00000451050:I22N	ENSP00000332879:I22N	I	+	2	0	0	FLRT2	85157676	85157676	1.000000	0.71417	0.990000	0.47175	0.997000	0.91878	7.988000	0.88194	2.186000	0.69663	0.533000	0.62120	ATT	0.614701		TCGA-HV-A5A3-01A-11D-A26I-08	0.507	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1	1	0	1	2	2	2	2	0	0	0	0	68	68	68	67	1	2.040000	-20.000000	1	0.610000			0	132	132	0	374	366	1		1	1		0	0	68	0	0	1.000000	4.931530e-01	0	4	0	2	0	132	374
GABRB3	2562	broad.mit.edu	37	15	26825521	26825521	+	Silent	SNP	C	C	T	rs146431931		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr15:26825521C>T	ENST00000311550.5	-	6	738	c.627G>A	c.(625-627)ccG>ccA	p.P209P	GABRB3_ENST00000400188.3_Silent_p.P138P|GABRB3_ENST00000299267.4_Silent_p.P209P|GABRB3_ENST00000545868.1_Silent_p.P124P|GABRB3_ENST00000541819.2_Silent_p.P265P	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	209					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TGGAGAACTGCGGGAGCTCAA	0.562													C|||	1	0.000199681	0.0	0.0	5008	,	,		18322	0.0		0.0	False		,,,				2504	0.001					ENST00000311550.5	0.180000	0.060000	0.150000	0.090000	0.110000	0.125350	0.110000	0.120000																										0				68						c.(625-627)ccG>ccA		gamma-aminobutyric acid (GABA) A receptor, beta 3	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	C	,,,	0,4406		0,0,2203	131.0	116.0	121.0		627,372,414,627	-10.2	0.7	15	dbSNP_134	121	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	GABRB3	NM_000814.5,NM_001191320.1,NM_001191321.1,NM_021912.4	,,,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,,,	209/474,124/389,138/403,209/474	26825521	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	2562	10	121412	43				g.chr15:26825521C>T		CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4083	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 3"""	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.627G>A	chr15.hg19:g.26825521C>T		1					GABRB3_ENST00000541819.2_Silent_p.P265P|GABRB3_ENST00000299267.4_Silent_p.P209P|GABRB3_ENST00000545868.1_Silent_p.P124P|GABRB3_ENST00000400188.3_Silent_p.P138P	p.P209P	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	0	1	1	1.509347	P28472	GBRB3_HUMAN		6	738	-		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)	B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Silent	SNP	ENST00000311550.5	1	1	hg19	c.627G>A	CCDS10019.1	0																																																																																								0.477807		TCGA-HV-A5A3-01A-11D-A26I-08	0.562	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2	1	0	1	2	2	2	2	0	0	0	0	77	77	77	77	1	2.040000	-4.516341	1	0.610000			0	16	15	0	313	308	0		1			0	0	77	0	0	0.999928	0	0	0	0	0	0	16	313
CYP11A1	1583	broad.mit.edu	37	15	74636261	74636261	+	Missense_Mutation	SNP	A	A	G			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr15:74636261A>G	ENST00000268053.6	-	4	852	c.698T>C	c.(697-699)tTc>tCc	p.F233S	CYP11A1_ENST00000358632.4_Missense_Mutation_p.F75S|CYP11A1_ENST00000541301.1_3'UTR|CYP11A1_ENST00000419019.2_Missense_Mutation_p.F75S	NM_000781.2	NP_000772.2	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	233					biphenyl metabolic process (GO:0018879)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cerebellum development (GO:0021549)|cholesterol metabolic process (GO:0008203)|dibenzo-p-dioxin metabolic process (GO:0018894)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|granulosa cell differentiation (GO:0060014)|hippocampus development (GO:0021766)|Leydig cell differentiation (GO:0033327)|maternal process involved in female pregnancy (GO:0060135)|mating behavior (GO:0007617)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|progesterone biosynthetic process (GO:0006701)|response to alkaloid (GO:0043279)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to gamma radiation (GO:0010332)|response to genistein (GO:0033595)|response to hydrogen peroxide (GO:0042542)|response to insecticide (GO:0017085)|response to L-ascorbic acid (GO:0033591)|response to salt stress (GO:0009651)|response to vitamin E (GO:0033197)|Schwann cell differentiation (GO:0014037)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|testosterone biosynthetic process (GO:0061370)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	mitochondrial crista (GO:0030061)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|perikaryon (GO:0043204)	cholesterol binding (GO:0015485)|cholesterol monooxygenase (side-chain-cleaving) activity (GO:0008386)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Clomifene(DB00882)|Clotrimazole(DB00257)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Glutethimide(DB01437)|Ketoconazole(DB01026)|Omeprazole(DB00338)|Saquinavir(DB01232)|Terbinafine(DB00857)|Testosterone(DB00624)	GGCATCAATGAATCGCTGGGC	0.572																																					Esophageal Squamous(87;818 1337 4093 9268 37314)	ENST00000268053.6	1.000000	0.880000	1.000000	0.930000	0.990000	0.975940	0.990000	1.000000																										0				20						c.(697-699)tTc>tCc		cytochrome P450, family 11, subfamily A, polypeptide 1	Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Clomifene(DB00882)|Clotrimazole(DB00257)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Glutethimide(DB01437)|Ketoconazole(DB01026)|Omeprazole(DB00338)|Saquinavir(DB01232)|Terbinafine(DB00857)|Testosterone(DB00624)						147.0	138.0	141.0					15																	74636261		2197	4296	6493	SO:0001583	missense	1583	0	0					g.chr15:74636261A>G	AK056794	CCDS32291.1, CCDS45303.1	15q23-q24	2010-05-04	2003-01-14	2003-01-17	ENSG00000140459	ENSG00000140459	1.14.15.6	"""Cytochrome P450s"""	2590	protein-coding gene	gene with protein product	"""cholesterol monooxygenase (side-chain-cleaving)"""	118485	"""cytochrome P450, subfamily XIA (cholesterol side chain cleavage)"""	CYP11A			Standard	NM_000781		Approved	P450SCC	uc002axt.2	P05108	OTTHUMG00000150716	ENST00000268053.6:c.698T>C	chr15.hg19:g.74636261A>G	ENSP00000268053:p.Phe233Ser	1					CYP11A1_ENST00000419019.2_Missense_Mutation_p.F75S|CYP11A1_ENST00000541301.1_3'UTR|CYP11A1_ENST00000358632.4_Missense_Mutation_p.F75S	p.F233S	NM_000781.2	NP_000772.2	0	1	1	1.471164	P05108	CP11A_HUMAN		4	852	-			A8K8D5|B3KPU8|G3XAD7|Q15081|Q16805|Q8N1A7	Missense_Mutation	SNP	ENST00000268053.6	1	1	hg19	c.698T>C	CCDS32291.1	1	.	.	.	.	.	.	.	.	.	.	A	17.11	3.304450	0.60305	.	.	ENSG00000140459	ENST00000268053;ENST00000358632;ENST00000419019;ENST00000450547	T;T;T	0.71461	-0.57;-0.57;-0.57	4.33	4.33	0.51752	4.33	4.33	0.51752	.	0.000000	0.85682	D	0.000000	D	0.85965	0.5820	M	0.89658	3.05	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.88863	0.3327	10	0.87932	D	0	-18.212	13.221	0.59887	1.0:0.0:0.0:0.0	.	203;233	B4DTE5;P05108	.;CP11A_HUMAN	S	233;75;75;145	ENSP00000268053:F233S;ENSP00000351455:F75S;ENSP00000405488:F75S	ENSP00000268053:F233S	F	-	2	0	0	CYP11A1	72423314	72423314	1.000000	0.71417	0.972000	0.41901	0.164000	0.22412	8.511000	0.90535	1.617000	0.50277	0.439000	0.28862	TTC	0.466922		TCGA-HV-A5A3-01A-11D-A26I-08	0.572	CYP11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319737.1	1	0	1	2	2	2	2	0	0	0	0	107	107	107	107	1	2.040000	-20.000000	1	0.610000			0	178	176	0	249	245	1		1			0	0	107	0	0	1.000000	0	0	0	0	0	0	178	249
ZNF629	23361	broad.mit.edu	37	16	30793072	30793072	+	Silent	SNP	G	G	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr16:30793072G>A	ENST00000262525.4	-	3	2784	c.2577C>T	c.(2575-2577)ctC>ctT	p.L859L	RP11-2C24.6_ENST00000575562.1_RNA	NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	859					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)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			AGCTCCTATGGAGCAGGAGGG	0.572																																						ENST00000262525.4	1.000000	0.920000	1.000000	0.990000	0.990000	0.993988	0.990000	1.000000																										0				22						c.(2575-2577)ctC>ctT		zinc finger protein 629							33.0	36.0	35.0					16																	30793072		1841	4100	5941	SO:0001819	synonymous_variant	23361	0	0					g.chr16:30793072G>A	AB002324	CCDS45463.1	16p11.2	2013-01-08				ENSG00000102870		"""Zinc fingers, C2H2-type"""	29008	protein-coding gene	gene with protein product			"""zinc finger protein 65"""	ZNF65		9205841	Standard	NM_001080417		Approved	KIAA0326	uc002dzs.1	Q9UEG4		ENST00000262525.4:c.2577C>T	chr16.hg19:g.30793072G>A		0					RP11-2C24.6_ENST00000575562.1_RNA	p.L859L	NM_001080417.1	NP_001073886.1	1	2	3	1.989677	Q9UEG4	ZN629_HUMAN	Colorectal(24;0.198)	3	2784	-			Q15938	Silent	SNP	ENST00000262525.4	1	1	hg19	c.2577C>T	CCDS45463.1	1																																																																																								0.611186		TCGA-HV-A5A3-01A-11D-A26I-08	0.572	ZNF629-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434291.1	1	0	1	2	2	2	2	0	0	0	0	29	29	29	29	1	2.040000	-20.000000	1	0.610000	NM_015309		0	99	99	0	198	197	0		1	1		0	0	29	0	0	1.000000	9.435240e-01	0	5	0	7	0	99	198
CDH8	1006	broad.mit.edu	37	16	61851519	61851519	+	Missense_Mutation	SNP	C	C	T	rs375557193		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr16:61851519C>T	ENST00000577390.1	-	7	2095	c.1141G>A	c.(1141-1143)Gtg>Atg	p.V381M	CDH8_ENST00000584337.1_Missense_Mutation_p.V381M|CDH8_ENST00000577730.1_Missense_Mutation_p.V381M|CDH8_ENST00000299345.6_Missense_Mutation_p.V381M	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	381	Cadherin 3. {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)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TCTTCAACCACGATTTTGACT	0.483													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15370	0.0		0.0	False		,,,				2504	0.0					ENST00000577390.1	1.000000	0.710000	0.960000	0.780000	0.860000	0.870601	0.860000	1.000000																										0				112						c.(1141-1143)Gtg>Atg		cadherin 8, type 2		C	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	107.0	87.0	94.0		1141	6.2	0.9	16		94	0,8600		0,0,4300	no	missense	CDH8	NM_001796.4	21	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	381/800	61851519	1,13005	2203	4300	6503	SO:0001583	missense	1006	8	121412	40				g.chr16:61851519C>T	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.1141G>A	chr16.hg19:g.61851519C>T	ENSP00000462701:p.Val381Met	0					CDH8_ENST00000577730.1_Missense_Mutation_p.V381M|CDH8_ENST00000299345.6_Missense_Mutation_p.V381M|CDH8_ENST00000584337.1_Missense_Mutation_p.V381M	p.V381M	NM_001796.4	NP_001787.2	1	2	3	1.996244	P55286	CADH8_HUMAN		7	2095	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	ENST00000577390.1	1	1	hg19	c.1141G>A	CCDS10802.1	1	.	.	.	.	.	.	.	.	.	.	C	12.44	1.939496	0.34189	2.27E-4	0.0	ENSG00000150394	ENST00000299345	T	0.01838	4.61	6.17	6.17	0.99709	6.17	6.17	0.99709	Cadherin (4);Cadherin-like (1);	0.275056	0.41605	D	0.000854	T	0.04497	0.0123	N	0.16567	0.415	0.37077	D	0.89879	D;B	0.69078	0.997;0.232	P;B	0.58454	0.839;0.095	T	0.55630	-0.8111	10	0.49607	T	0.09	.	13.9957	0.64397	0.0:0.9315:0.0:0.0685	.	197;381	Q3LID3;P55286	.;CADH8_HUMAN	M	381	ENSP00000299345:V381M	ENSP00000299345:V381M	V	-	1	0	0	CDH8	60409020	60409020	0.074000	0.21230	0.851000	0.33527	0.731000	0.41821	1.447000	0.35101	2.941000	0.99782	0.655000	0.94253	GTG	0.611186		TCGA-HV-A5A3-01A-11D-A26I-08	0.483	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	1	0	1	2	2	2	2	0	0	0	0	41	41	41	41	1	2.040000	-20.000000	1	0.610000	NM_001796		0	82	82	0	228	224	1		1			0	0	41	0	0	1.000000	0	0	0	0	0	0	82	228
TP53	7157	broad.mit.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs397516437|rs121912651		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr17:7577539G>A	ENST00000269305.4	-	7	931	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000420246.2_Missense_Mutation_p.R248W|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W	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	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		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.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)	ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	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)	ENST00000269305.4	0.940000	0.650000	0.870000	0.720000	0.790000	0.801319	0.790000	0.800000	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	111	yes	Rec	yes	Li-Fraumeni syndrome	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	17p13	7157	Mis, N, F	tumor protein p53				"""L, E, M, O"""	L, E, M, O		breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types	breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types		617	Substitution - Missense(585)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(3)|Complex - compound substitution(3)|Substitution - coding silent(2)	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)	large_intestine(156)|breast(72)|ovary(42)|endometrium(38)|oesophagus(38)|skin(37)|haematopoietic_and_lymphoid_tissue(37)|central_nervous_system(35)|stomach(27)|lung(26)|upper_aerodigestive_tract(25)|urinary_tract(19)|biliary_tract(17)|pancreas(12)|prostate(10)|soft_tissue(6)|bone(6)|thyroid(4)|liver(4)|penis(2)|peritoneum(1)|vulva(1)|kidney(1)|cervix(1)	24185	GRCh37	CM010465|CM900211	TP53	M	rs121912651	c.(742-744)Cgg>Tgg	Other conserved DNA damage response genes	tumor protein p53	Acetylsalicylic acid(DB00945)						151.0	112.0	125.0					17																	7577539		2203	4300	6503	SO:0001583	missense	7157	1	121412	37	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;	g.chr17:7577539G>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.742C>T	chr17.hg19:g.7577539G>A	ENSP00000269305:p.Arg248Trp	1	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)				TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000420246.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W	p.R248W	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	0	1	1	1.474059	P04637	P53_HUMAN		7	931	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	1	1	hg19	c.742C>T	CCDS11118.1	0	.	.	.	.	.	.	.	.	.	.	G	18.84	3.710019	0.68730	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.62	2.56	0.30785	4.62	2.56	0.30785	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99843	0.9928	M	0.92507	3.315	0.58432	A	0.999997	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.97208	0.9869	9	0.87932	D	0	-9.5643	7.568	0.27890	0.0893:0.0:0.7471:0.1636	.	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	W	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248W;ENSP00000352610:R248W;ENSP00000269305:R248W;ENSP00000398846:R248W;ENSP00000391127:R248W;ENSP00000391478:R248W;ENSP00000425104:R116W;ENSP00000423862:R155W	ENSP00000269305:R248W	R	-	1	2	2	TP53	7518264	7518264	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.447000	0.35101	0.644000	0.30656	0.462000	0.41574	CGG	0.441301		TCGA-HV-A5A3-01A-11D-A26I-08	0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	1	0	1	2	2	2	2	0	0	0	0	69	69	69	68	1	2.040000	-9.333433	1	0.610000	NM_000546		0	72	71	0	133	130	1		1	1	1	0	0	69	1053	0	1.000000	9.999888e-01	1	26	292	10	439	72	133
EPB41L3	23136	broad.mit.edu	37	18	5398076	5398076	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr18:5398076G>A	ENST00000341928.2	-	17	2756	c.2416C>T	c.(2416-2418)Cga>Tga	p.R806*	EPB41L3_ENST00000544123.1_Nonsense_Mutation_p.R637*|EPB41L3_ENST00000342933.3_Nonsense_Mutation_p.R806*|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000542146.1_Nonsense_Mutation_p.R111*|EPB41L3_ENST00000427684.2_Nonsense_Mutation_p.R103*|EPB41L3_ENST00000542652.2_Intron	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	806	Spectrin--actin-binding. {ECO:0000255}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						GTTGGTTTTCGCGCAGACTCT	0.453																																						ENST00000341928.2	1.000000	0.910000	1.000000	0.950000	0.990000	0.983608	0.990000	1.000000																										0				105						c.(2416-2418)Cga>Tga		erythrocyte membrane protein band 4.1-like 3							225.0	231.0	229.0					18																	5398076		2203	4300	6503	SO:0001587	stop_gained	23136	1	121412	35				g.chr18:5398076G>A	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.2416C>T	chr18.hg19:g.5398076G>A	ENSP00000343158:p.Arg806*	0					EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000427684.2_Nonsense_Mutation_p.R103*|EPB41L3_ENST00000542146.1_Nonsense_Mutation_p.R111*|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000544123.1_Nonsense_Mutation_p.R637*|EPB41L3_ENST00000342933.3_Nonsense_Mutation_p.R806*|EPB41L3_ENST00000400111.3_Intron	p.R806*	NM_012307.2	NP_036439.2	1	2	3	2.070270	Q9Y2J2	E41L3_HUMAN		17	2756	-			B7Z4I5|F5GX05|O95713|Q9BRP5	Nonsense_Mutation	SNP	ENST00000341928.2	0	1	hg19	c.2416C>T	CCDS11838.1	1	.	.	.	.	.	.	.	.	.	.	G	40	8.140571	0.98672	.	.	ENSG00000082397	ENST00000341928;ENST00000544123;ENST00000427684;ENST00000542146;ENST00000342933	.	.	.	6.17	2.8	0.32819	6.17	2.8	0.32819	.	0.352659	0.33477	N	0.004861	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.8014	0.78456	0.0:0.0:0.1619:0.8381	.	.	.	.	X	806;637;103;111;806	.	ENSP00000343158:R806X	R	-	1	2	2	EPB41L3	5388076	5388076	0.996000	0.38824	0.129000	0.21949	0.981000	0.71138	3.424000	0.52764	0.287000	0.22375	0.655000	0.94253	CGA	0.619289		TCGA-HV-A5A3-01A-11D-A26I-08	0.453	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	1	0	1	2	2	2	2	0	0	0	0	178	178	178	177	1	2.040000	-20.000000	1	0.610000	NM_012307		0	396	395	0	936	930	1		1			0	0	178	0	0	1.000000	0	0	0	0	0	0	396	936
SMAD4	4089	broad.mit.edu	37	18	48603028	48603028	+	Nonsense_Mutation	SNP	T	T	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr18:48603028T>A	ENST00000342988.3	+	11	1867	c.1329T>A	c.(1327-1329)tgT>tgA	p.C443*	SMAD4_ENST00000398417.2_Nonsense_Mutation_p.C443*|SMAD4_ENST00000588745.1_Nonsense_Mutation_p.C347*	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	443	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(2)|p.R441fs*16(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TGCGTCAGTGTCATCGACAGA	0.453																																						ENST00000342988.3	0.990000	0.690000	0.930000	0.770000	0.850000	0.854127	0.850000	0.860000																										39	Whole gene deletion(36)|Unknown(2)|Deletion - Frameshift(1)	p.0?(36)|p.?(2)|p.R441fs*16(1)	pancreas(27)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)	454						c.(1327-1329)tgT>tgA		SMAD family member 4							43.0	44.0	44.0					18																	48603028		2203	4300	6503	SO:0001587	stop_gained	4089	0	0					g.chr18:48603028T>A	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1329T>A	chr18.hg19:g.48603028T>A	ENSP00000341551:p.Cys443*	1					SMAD4_ENST00000588745.1_Nonsense_Mutation_p.C347*|SMAD4_ENST00000398417.2_Nonsense_Mutation_p.C443*	p.C443*	NM_005359.5	NP_005350.1	0	1	1	1.424897	Q13485	SMAD4_HUMAN		11	1867	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	A8K405	Nonsense_Mutation	SNP	ENST00000342988.3	0	1	hg19	c.1329T>A	CCDS11950.1	1	.	.	.	.	.	.	.	.	.	.	T	41	9.134028	0.99077	.	.	ENSG00000141646	ENST00000342988;ENST00000398417	.	.	.	6.03	4.68	0.58851	6.03	4.68	0.58851	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.7929	0.52080	0.0:0.0806:0.0:0.9194	.	.	.	.	X	443	.	ENSP00000341551:C443X	C	+	3	2	2	SMAD4	46857026	46857026	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.233000	0.32648	2.308000	0.77769	0.533000	0.62120	TGT	0.443731		TCGA-HV-A5A3-01A-11D-A26I-08	0.453	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	1	0	1	2	2	2	2	0	0	0	0	28	28	28	28	1	2.040000	-20.000000	1	0.610000	NM_005359		0	69	69	0	115	115	1		1	1	1	0	0	28	425	0	1.000000	9.028922e-01	1	4	157	5	179	69	115
ZNF676	163223	broad.mit.edu	37	19	22362994	22362994	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr19:22362994C>A	ENST00000397121.2	-	3	1842	c.1525G>T	c.(1525-1527)Gaa>Taa	p.E509*		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	509					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TTGCCACATTCTTCACATTTG	0.388																																						ENST00000397121.2	0.910000	0.620000	0.840000	0.690000	0.760000	0.771992	0.760000	0.770000																										0				67						c.(1525-1527)Gaa>Taa		zinc finger protein 676							64.0	68.0	67.0					19																	22362994		2156	4276	6432	SO:0001587	stop_gained	163223	0	0					g.chr19:22362994C>A	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.1525G>T	chr19.hg19:g.22362994C>A	ENSP00000380310:p.Glu509*	0						p.E509*	NM_001001411.2	NP_001001411.2	0	1	1	1.968556	Q8N7Q3	ZN676_HUMAN		3	1842	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	A8MVX5	Nonsense_Mutation	SNP	ENST00000397121.2	0	1	hg19	c.1525G>T	CCDS42539.1	0	.	.	.	.	.	.	.	.	.	.	.	23.9	4.466068	0.84425	.	.	ENSG00000196109	ENST00000397121	.	.	.	0.81	-1.62	0.08372	0.81	-1.62	0.08372	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999997	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	7.3206	0.26526	0.0:0.7253:0.2747:0.0	.	.	.	.	X	509	.	ENSP00000380310:E509X	E	-	1	0	0	ZNF676	22154834	22154834	0.000000	0.05858	0.086000	0.20670	0.086000	0.17979	-0.518000	0.06267	0.181000	0.19994	0.184000	0.17185	GAA	0.608807		TCGA-HV-A5A3-01A-11D-A26I-08	0.388	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	1	0	1	2	2	2	2	0	0	0	0	32	32	32	32	1	2.040000	-20.000000	1	0.610000	NM_001001411		0	83	82	0	270	267	0		1	0		0	0	32	0	0	1.000000	5.617978e-02	0	0	0	2	0	83	270
SHANK1	50944	broad.mit.edu	37	19	51189519	51189519	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr19:51189519C>T	ENST00000293441.1	-	20	2570	c.2552G>A	c.(2551-2553)cGa>cAa	p.R851Q	SHANK1_ENST00000359082.3_Missense_Mutation_p.R842Q|SHANK1_ENST00000391814.1_Missense_Mutation_p.R859Q|SHANK1_ENST00000391813.1_Missense_Mutation_p.R238Q	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	851					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		ACCTTTGGGTCGGTGTTTGCC	0.612																																						ENST00000293441.1	1.000000	0.990000	1.000000	0.990000	0.990000	1.000000	0.990000	1.000000																										0				64						c.(2551-2553)cGa>cAa		SH3 and multiple ankyrin repeat domains 1							78.0	68.0	71.0					19																	51189519		2203	4300	6503	SO:0001583	missense	50944	1	121406	29				g.chr19:51189519C>T	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.2552G>A	chr19.hg19:g.51189519C>T	ENSP00000293441:p.Arg851Gln	1					SHANK1_ENST00000391813.1_Missense_Mutation_p.R238Q|SHANK1_ENST00000391814.1_Missense_Mutation_p.R859Q|SHANK1_ENST00000359082.3_Missense_Mutation_p.R842Q	p.R851Q	NM_016148.2	NP_057232.2	1	2	3	2.562204	Q9Y566	SHAN1_HUMAN		20	2570	-		all_neural(266;0.057)	A8MXP5|B7WNY6|Q9NYW9	Missense_Mutation	SNP	ENST00000293441.1	1	1	hg19	c.2552G>A	CCDS12799.1	1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.081563	0.76528	.	.	ENSG00000161681	ENST00000293441;ENST00000391813;ENST00000359082;ENST00000391814	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	3.91	3.91	0.45181	3.91	3.91	0.45181	.	0.121407	0.31381	U	0.007749	T	0.62816	0.2459	M	0.75615	2.305	0.45914	D	0.998753	D;D	0.89917	0.99;1.0	B;D	0.81914	0.34;0.995	T	0.64449	-0.6405	10	0.39692	T	0.17	-10.4541	15.2111	0.73225	0.0:1.0:0.0:0.0	.	851;238	Q9Y566;Q9Y566-2	SHAN1_HUMAN;.	Q	851;238;842;859	ENSP00000293441:R851Q;ENSP00000375689:R238Q;ENSP00000351984:R842Q;ENSP00000375690:R859Q	ENSP00000293441:R851Q	R	-	2	0	0	SHANK1	55881331	55881331	1.000000	0.71417	0.998000	0.56505	0.970000	0.65996	5.717000	0.68446	2.211000	0.71520	0.478000	0.44815	CGA	0.700449		TCGA-HV-A5A3-01A-11D-A26I-08	0.612	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	1	0	1	2	2	2	2	0	0	0	0	52	52	52	51	1	2.040000	-20.000000	1	0.610000	NM_016148		0	178	176	0	202	201	1		1			0	0	52	0	0	1.000000	0	0	0	0	0	0	178	202
NLRP12	91662	broad.mit.edu	37	19	54327405	54327405	+	Silent	SNP	G	G	A	rs577507616		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr19:54327405G>A	ENST00000324134.6	-	1	192	c.24C>T	c.(22-24)gaC>gaT	p.D8D	NLRP12_ENST00000391775.3_Silent_p.D8D|NLRP12_ENST00000351894.4_Silent_p.D8D|NLRP12_ENST00000391773.1_Silent_p.D8D|NLRP12_ENST00000391772.1_Silent_p.D8D|NLRP12_ENST00000535162.1_Silent_p.D8D|NLRP12_ENST00000345770.5_Silent_p.D8D|NLRP12_ENST00000354278.3_Silent_p.D8D	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	8	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)	p.D8E(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GACAGAGGCCGTCCCTGCCTG	0.612																																						ENST00000324134.6	1.000000	0.690000	0.940000	0.770000	0.850000	0.858893	0.850000	1.000000																										1	Substitution - Missense(1)	p.D8E(1)	lung(1)	80						c.(22-24)gaC>gaT		NLR family, pyrin domain containing 12							43.0	42.0	42.0					19																	54327405		2203	4300	6503	SO:0001819	synonymous_variant	91662	15	121412	40				g.chr19:54327405G>A	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.24C>T	chr19.hg19:g.54327405G>A		1					NLRP12_ENST00000535162.1_Silent_p.D8D|NLRP12_ENST00000354278.3_Silent_p.D8D|NLRP12_ENST00000391772.1_Silent_p.D8D|NLRP12_ENST00000345770.5_Silent_p.D8D|NLRP12_ENST00000391773.1_Silent_p.D8D|NLRP12_ENST00000351894.4_Silent_p.D8D|NLRP12_ENST00000391775.3_Silent_p.D8D	p.D8D	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	1	2	3	2.586541	P59046	NAL12_HUMAN		1	192	-	Ovarian(34;0.19)		A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Silent	SNP	ENST00000324134.6	1	1	hg19	c.24C>T	CCDS12864.1	1																																																																																								0.700449		TCGA-HV-A5A3-01A-11D-A26I-08	0.612	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	1	0	1	2	2	2	2	0	0	0	0	47	47	47	46	1	2.040000	-20.000000	1	0.610000	NM_144687		0	85	84	0	339	338	1		1			0	0	47	0	0	1.000000	0	0	0	0	0	0	85	339
PTPRH	5794	broad.mit.edu	37	19	55711614	55711614	+	Silent	SNP	G	G	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr19:55711614G>A	ENST00000376350.3	-	7	1432	c.1410C>T	c.(1408-1410)agC>agT	p.S470S	PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Silent_p.S292S	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	470	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.S470S(1)		breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		CTGTGGAGATGCTGACATTCT	0.542																																						ENST00000376350.3	1.000000	0.670000	0.950000	0.760000	0.840000	0.854360	0.840000	1.000000																										1	Substitution - coding silent(1)	p.S470S(1)	endometrium(1)	67						c.(1408-1410)agC>agT		protein tyrosine phosphatase, receptor type, H							121.0	103.0	109.0					19																	55711614		2203	4300	6503	SO:0001819	synonymous_variant	5794	0	0					g.chr19:55711614G>A		CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.1410C>T	chr19.hg19:g.55711614G>A		1					PTPRH_ENST00000263434.5_Silent_p.S292S|PTPRH_ENST00000588559.1_5'UTR	p.S470S	NM_002842.3	NP_002833.3	1	2	3	2.610358	Q9HD43	PTPRH_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	7	1432	-		Renal(1328;0.245)	C9JCH2|Q15426|Q2NKN9|Q2NKP0	Silent	SNP	ENST00000376350.3	1	1	hg19	c.1410C>T	CCDS33110.1	0																																																																																								0.701149		TCGA-HV-A5A3-01A-11D-A26I-08	0.542	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1	1	0	1	2	2	2	2	0	0	0	0	45	45	45	45	1	2.040000	-20.000000	1	0.610000			0	70	68	0	282	278	1		1	1		0	0	45	0	0	1.000000	1	0	42	0	69	0	70	282
UBR4	23352	broad.mit.edu	37	1	19477078	19477078	+	Silent	SNP	G	G	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr1:19477078G>A	ENST00000375254.3	-	49	7450	c.7423C>T	c.(7423-7425)Ctg>Ttg	p.L2475L	UBR4_ENST00000375217.2_Silent_p.L2475L|UBR4_ENST00000375226.2_Silent_p.L2475L|UBR4_ENST00000375267.2_Silent_p.L2475L	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2475					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)		TACCTCTCCAGGACAGTTCCA	0.522																																						ENST00000375254.3	1.000000	0.630000	1.000000	0.680000	0.740000	0.791662	0.740000	0.730000																										0				171						c.(7423-7425)Ctg>Ttg		ubiquitin protein ligase E3 component n-recognin 4							79.0	76.0	77.0					1																	19477078		2203	4300	6503	SO:0001819	synonymous_variant	23352	0	0					g.chr1:19477078G>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.7423C>T	chr1.hg19:g.19477078G>A		1					UBR4_ENST00000375217.2_Silent_p.L2475L|UBR4_ENST00000375267.2_Silent_p.L2475L|UBR4_ENST00000375226.2_Silent_p.L2475L	p.L2475L	NM_020765.2	NP_065816.2	1	3	4	2.658233	Q5T4S7	UBR4_HUMAN		49	7450	-		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)	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	ENST00000375254.3	1	1	hg19	c.7423C>T	CCDS189.1	0																																																																																								0.706635		TCGA-HV-A5A3-01A-11D-A26I-08	0.522	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	1	0	1	2	2	2	2	0	0	0	0	90	90	90	90	1	2.040000	-20.000000	1	0.610000	NM_020765		0	191	191	0	960	954	0		1	0		0	0	90	0	0	1.000000	7.018283e-01	0	0	0	14	0	191	960
KIAA0754	643314	broad.mit.edu	37	1	39878506	39878506	+	Missense_Mutation	SNP	G	G	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr1:39878506G>T	ENST00000530275.1	+	1	2356	c.2161G>T	c.(2161-2163)Ggt>Tgt	p.G721C	MACF1_ENST00000564288.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000317713.7_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	721										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCCAGAGGAGGGTACCTCAAT	0.542																																						ENST00000530275.1	1.000000	0.560000	1.000000	0.700000	0.870000	0.859125	0.870000	1.000000																										0				8						c.(2161-2163)Ggt>Tgt		KIAA0754							41.0	42.0	42.0					1																	39878506		2000	4167	6167	SO:0001583	missense	643314	0	0					g.chr1:39878506G>T			1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.2161G>T	chr1.hg19:g.39878506G>T	ENSP00000431179:p.Gly721Cys	0					MACF1_ENST00000564288.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000545844.1_Intron	p.G721C	NM_015038.1	NP_055853.1	1	2	3	2.053657	O94854	K0754_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)	1	2356	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	E9PMC2|Q6ZSB2	Missense_Mutation	SNP	ENST00000530275.1	1	1	hg19	c.2161G>T		1	.	.	.	.	.	.	.	.	.	.	G	9.814	1.183976	0.21870	.	.	ENSG00000255103	ENST00000530275	T	0.25912	1.77	2.94	2.01	0.26516	2.94	2.01	0.26516	.	.	.	.	.	T	0.11495	0.0280	N	0.08118	0	0.09310	N	1	P	0.50156	0.932	B	0.40285	0.325	T	0.10636	-1.0621	9	0.62326	D	0.03	.	4.2424	0.10654	0.1402:0.2402:0.6196:0.0	.	721	O94854	K0754_HUMAN	C	721	ENSP00000431179:G721C	ENSP00000431179:G721C	G	+	1	0	0	RP4-562N20.1	39651093	39651093	0.000000	0.05858	0.003000	0.11579	0.011000	0.07611	-0.271000	0.08572	0.553000	0.29044	0.561000	0.74099	GGT	0.618152		TCGA-HV-A5A3-01A-11D-A26I-08	0.542	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392100.1	1	0	1	2	2	2	2	0	0	0	0	14	14	14	14	1	2.040000	-16.562480	1	0.610000	NM_015038		0	19	18	0	55	55	1		1	0		0	0	14	0	0	0.999996	0	0	1	0	0	0	19	55
OR2M3	127062	broad.mit.edu	37	1	248366501	248366501	+	Silent	SNP	C	C	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr1:248366501C>T	ENST00000456743.1	+	1	170	c.132C>T	c.(130-132)gtC>gtT	p.V44V		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	44						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GAAACTCTGTCATGGTTCTCC	0.547																																						ENST00000456743.1	0.830000	0.670000	0.790000	0.710000	0.750000	0.758569	0.750000	0.750000																										0				50						c.(130-132)gtC>gtT		olfactory receptor, family 2, subfamily M, member 3							253.0	245.0	248.0					1																	248366501		2203	4298	6501	SO:0001819	synonymous_variant	127062	0	0					g.chr1:248366501C>T		CCDS31107.1	1q44	2012-08-09		2004-03-10	ENSG00000228198	ENSG00000228198		"""GPCR / Class A : Olfactory receptors"""	8269	protein-coding gene	gene with protein product				OR2M6, OR2M3P			Standard	NM_001004689		Approved	OST003	uc010pzg.2	Q8NG83	OTTHUMG00000040459	ENST00000456743.1:c.132C>T	chr1.hg19:g.248366501C>T		1						p.V44V	NM_001004689.1	NP_001004689.1	1	2	3	2.585007	Q8NG83	OR2M3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)	1	170	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		B9EH06|Q6IEY0	Silent	SNP	ENST00000456743.1	1	1	hg19	c.132C>T	CCDS31107.1	0																																																																																								0.701149		TCGA-HV-A5A3-01A-11D-A26I-08	0.547	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097355.1	1	0	1	2	2	2	2	0	0	0	0	206	206	206	248	1	2.040000	-20.000000	1	0.610000	NM_001004689		0	365	344	0	1697	1601	1		1			0	0	206	0	0	1.000000	0	0	0	0	0	0	365	1697
COX4I2	84701	broad.mit.edu	37	20	30232606	30232606	+	Missense_Mutation	SNP	C	C	T	rs200392726	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr20:30232606C>T	ENST00000376075.3	+	5	490	c.415C>T	c.(415-417)Cgg>Tgg	p.R139W	COX4I2_ENST00000490030.1_3'UTR	NM_032609.2	NP_115998.2	Q96KJ9	COX42_HUMAN	cytochrome c oxidase subunit IV isoform 2 (lung)	139					cellular respiration (GO:0045333)|generation of precursor metabolites and energy (GO:0006091)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)	mitochondrial respiratory chain complex IV (GO:0005751)	cytochrome-c oxidase activity (GO:0004129)			breast(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	11	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;1.01e-05)|all cancers(5;9.46e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00121)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			GACGGACGAGCGGAAAGCCCA	0.582													T|||	2	0.000399361	0.0	0.0	5008	,	,		18339	0.0		0.0	False		,,,				2504	0.002					ENST00000376075.3	0.900000	0.520000	0.790000	0.600000	0.690000	0.700339	0.690000	0.690000																										0				11						c.(415-417)Cgg>Tgg		cytochrome c oxidase subunit IV isoform 2 (lung)		T	TRP/ARG	0,4406		0,0,2203	88.0	72.0	77.0		415	0.8	0.3	20		77	1,8599	819.2+/-406.8	0,1,4299	yes	missense	COX4I2	NM_032609.2	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	139/172	30232606	1,13005	2203	4300	6503	SO:0001583	missense	84701	6	121412	35				g.chr20:30232606C>T	AF257180	CCDS13187.1	20q11.21	2011-07-04	2004-08-11		ENSG00000131055	ENSG00000131055		"""Mitochondrial respiratory chain complex / Complex IV"""	16232	protein-coding gene	gene with protein product	"""cytochrome c oxidase subunit IV-like 2"""	607976	"""cytochrome c oxidase subunit IV isoform 2"""	COX4L2		11311561, 17937768	Standard	NM_032609		Approved	COXIV-2, COX4B, dJ857M17.2, COX4-2	uc002wwj.1	Q96KJ9	OTTHUMG00000032180	ENST00000376075.3:c.415C>T	chr20.hg19:g.30232606C>T	ENSP00000365243:p.Arg139Trp	1					COX4I2_ENST00000490030.1_3'UTR	p.R139W	NM_032609.2	NP_115998.2	1	2	3	2.542705	Q96KJ9	COX42_HUMAN	Epithelial(4;1.01e-05)|all cancers(5;9.46e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00121)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)	5	490	+	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Q6GTF4|Q9H0Z4	Missense_Mutation	SNP	ENST00000376075.3	1	1	hg19	c.415C>T	CCDS13187.1	0	.	.	.	.	.	.	.	.	.	.	T	0.008	-1.908787	0.00508	0.0	1.16E-4	ENSG00000131055	ENST00000376075	T	0.44482	0.92	4.38	0.825	0.18824	4.38	0.825	0.18824	.	0.358373	0.28182	N	0.016300	T	0.10895	0.0266	N	0.01048	-1.04	0.20307	N	0.999915	B	0.02656	0.0	B	0.01281	0.0	T	0.36335	-0.9752	10	0.02654	T	1	-2.7008	7.3252	0.26551	0.0:0.4506:0.0:0.5494	.	139	Q96KJ9	COX42_HUMAN	W	139	ENSP00000365243:R139W	ENSP00000365243:R139W	R	+	1	2	2	COX4I2	29696267	29696267	0.975000	0.34042	0.349000	0.25694	0.011000	0.07611	1.047000	0.30367	-0.290000	0.09025	-0.817000	0.03123	CGG	0.699746		TCGA-HV-A5A3-01A-11D-A26I-08	0.582	COX4I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078548.1	1	0	1	2	2	2	2	0	0	0	0	65	65	65	64	1	2.040000	-20.000000	1	0.610000	NM_032609		0	50	50	0	259	258	1		1	0		0	0	65	0	0	1.000000	5.034395e-01	0	0	0	10	0	50	259
WNT7B	7477	broad.mit.edu	37	22	46327243	46327243	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr22:46327243C>T	ENST00000339464.4	-	3	679	c.305G>A	c.(304-306)cGt>cAt	p.R102H	WNT7B_ENST00000410089.1_Missense_Mutation_p.R86H|WNT7B_ENST00000409496.3_Missense_Mutation_p.R106H|WNT7B_ENST00000410058.1_Missense_Mutation_p.R102H	NM_058238.2	NP_478679.1	P56706	WNT7B_HUMAN	wingless-type MMTV integration site family, member 7B	102					activation of JUN kinase activity (GO:0007257)|anatomical structure regression (GO:0060033)|apoptotic process involved in patterning of blood vessels (GO:1902262)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular metabolic process (GO:0044237)|cellular response to retinoic acid (GO:0071300)|central nervous system vasculogenesis (GO:0022009)|chorio-allantoic fusion (GO:0060710)|developmental growth involved in morphogenesis (GO:0060560)|embryonic organ development (GO:0048568)|embryonic placenta morphogenesis (GO:0060669)|establishment or maintenance of polarity of embryonic epithelium (GO:0016332)|fibroblast proliferation (GO:0048144)|forebrain regionalization (GO:0021871)|homeostatic process (GO:0042592)|in utero embryonic development (GO:0001701)|inner medullary collecting duct development (GO:0072061)|lens fiber cell development (GO:0070307)|lobar bronchus development (GO:0060482)|lung development (GO:0030324)|lung epithelium development (GO:0060428)|lung morphogenesis (GO:0060425)|lung-associated mesenchyme development (GO:0060484)|mammary gland epithelium development (GO:0061180)|metanephric collecting duct development (GO:0072205)|metanephric epithelium development (GO:0072207)|metanephric loop of Henle development (GO:0072236)|metanephros morphogenesis (GO:0003338)|negative regulation of smoothened signaling pathway (GO:0045879)|neuron differentiation (GO:0030182)|neuron projection morphogenesis (GO:0048812)|odontogenesis of dentin-containing tooth (GO:0042475)|outer medullary collecting duct development (GO:0072060)|oxygen homeostasis (GO:0032364)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of cell projection size (GO:0032536)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|response to glucocorticoid (GO:0051384)|smooth muscle cell differentiation (GO:0051145)|stem cell proliferation (GO:0072089)|synapse organization (GO:0050808)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	19		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247)		GGCAGCCTCACGGCTCCCTGC	0.701																																						ENST00000339464.4	1.000000	0.770000	1.000000	0.870000	0.990000	0.953978	0.990000	1.000000																										0				19						c.(304-306)cGt>cAt		wingless-type MMTV integration site family, member 7B							18.0	18.0	18.0					22																	46327243		2201	4298	6499	SO:0001583	missense	7477	0	0					g.chr22:46327243C>T	AF416743	CCDS33667.1	22q13	2013-02-28			ENSG00000188064	ENSG00000188064		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12787	protein-coding gene	gene with protein product		601967				8168088, 9284940, 11562755	Standard	NM_058238		Approved		uc003bgo.2	P56706	OTTHUMG00000154636	ENST00000339464.4:c.305G>A	chr22.hg19:g.46327243C>T	ENSP00000341032:p.Arg102His	0					WNT7B_ENST00000410089.1_Missense_Mutation_p.R86H|WNT7B_ENST00000410058.1_Missense_Mutation_p.R102H|WNT7B_ENST00000409496.3_Missense_Mutation_p.R106H	p.R102H	NM_058238.2	NP_478679.1	1	2	3	2.069050	P56706	WNT7B_HUMAN		3	679	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	B8A596|Q96Q12	Missense_Mutation	SNP	ENST00000339464.4	1	1	hg19	c.305G>A	CCDS33667.1	1	.	.	.	.	.	.	.	.	.	.	c	20.9	4.061673	0.76187	.	.	ENSG00000188064	ENST00000339464;ENST00000410089;ENST00000409496;ENST00000410058;ENST00000428540	D;D;D;D;D	0.81499	-1.5;-1.5;-1.5;-1.5;-1.5	3.34	3.34	0.38264	3.34	3.34	0.38264	.	0.000000	0.64402	U	0.000001	D	0.91536	0.7327	H	0.95982	3.75	0.51767	D	0.99993	D;D	0.63880	0.977;0.993	P;P	0.62491	0.839;0.903	D	0.94130	0.7387	10	0.87932	D	0	.	13.8568	0.63531	0.0:1.0:0.0:0.0	.	106;102	A8K0G1;P56706	.;WNT7B_HUMAN	H	102;86;106;102;35	ENSP00000341032:R102H;ENSP00000386781:R86H;ENSP00000386546:R106H;ENSP00000387217:R102H;ENSP00000392750:R35H	ENSP00000341032:R102H	R	-	2	0	0	WNT7B	44705907	44705907	1.000000	0.71417	0.860000	0.33809	0.904000	0.53231	4.484000	0.60271	1.709000	0.51313	0.461000	0.40582	CGT	0.619289		TCGA-HV-A5A3-01A-11D-A26I-08	0.701	WNT7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336418.1	1	0	1	2	2	2	2	0	0	0	0	30	30	30	30	1	2.040000	-20.000000	1	0.610000	NM_058238		0	49	49	0	117	116	1		1	1		0	0	30	0	0	1.000000	9.996707e-01	0	18	0	15	0	49	117
ATP5G3	518	broad.mit.edu	37	2	176044902	176044902	+	Missense_Mutation	SNP	C	C	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr2:176044902C>A	ENST00000284727.4	-	3	3068	c.44G>T	c.(43-45)cGa>cTa	p.R15L	ATP5G3_ENST00000409194.1_Missense_Mutation_p.R15L|ATP5G3_ENST00000392541.3_Missense_Mutation_p.R15L	NM_001002258.4|NM_001689.4	NP_001002258.1|NP_001680.1	P48201	AT5G3_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C3 (subunit 9)	15					ATP hydrolysis coupled proton transport (GO:0015991)|ATP synthesis coupled proton transport (GO:0015986)	integral component of membrane (GO:0016021)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|proton-transporting ATP synthase complex, coupling factor F(o) (GO:0045263)	hydrogen ion transmembrane transporter activity (GO:0015078)|lipid binding (GO:0008289)|transporter activity (GO:0005215)			large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(117;0.147)			GGATCCAGCTCGGATCTATTA	0.343																																					GBM(30;387 605 18606 28805 47989)	ENST00000284727.4	1.000000	0.720000	1.000000	0.790000	0.880000	0.887886	0.880000	1.000000																										0				5						c.(43-45)cGa>cTa		ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C3 (subunit 9)							85.0	84.0	85.0					2																	176044902		2203	4300	6503	SO:0001583	missense	518	0	0					g.chr2:176044902C>A	BC106881	CCDS2263.1	2q31.1	2012-10-12	2010-06-11		ENSG00000154518	ENSG00000154518		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	843	protein-coding gene	gene with protein product		602736	"""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9) isoform 3"", ""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C3 (subunit 9)"""			7698763	Standard	NM_001002258		Approved		uc002ujz.4	P48201	OTTHUMG00000132425	ENST00000284727.4:c.44G>T	chr2.hg19:g.176044902C>A	ENSP00000284727:p.Arg15Leu	1					ATP5G3_ENST00000409194.1_Missense_Mutation_p.R15L|ATP5G3_ENST00000392541.3_Missense_Mutation_p.R15L	p.R15L	NM_001002258.4|NM_001689.4	NP_001002258.1|NP_001680.1	1	2	3	2.434448	P48201	AT5G3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.147)	3	3068	-			B2R4Z0|D3DPF0|Q4ZFX7	Missense_Mutation	SNP	ENST00000284727.4	1	1	hg19	c.44G>T	CCDS2263.1	1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.865255	0.91511	.	.	ENSG00000154518	ENST00000284727;ENST00000409194;ENST00000392541	T;T;T	0.24151	1.87;1.87;1.87	5.3	5.3	0.74995	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.44244	0.1284	L	0.58925	1.835	0.80722	D	1	D	0.64830	0.994	P	0.57679	0.825	T	0.15292	-1.0442	10	0.41790	T	0.15	0.9783	19.332	0.94295	0.0:1.0:0.0:0.0	.	15	P48201	AT5G3_HUMAN	L	15	ENSP00000284727:R15L;ENSP00000387317:R15L;ENSP00000376324:R15L	ENSP00000284727:R15L	R	-	2	0	0	ATP5G3	175753148	175753148	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.252000	0.78309	2.652000	0.90054	0.563000	0.77884	CGA	0.691040		TCGA-HV-A5A3-01A-11D-A26I-08	0.343	ATP5G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255563.1	1	0	1	2	2	2	2	0	0	0	0	33	33	33	32	1	2.040000	-3.261642	1	0.610000	NM_001689		0	99	98	0	371	366	1		1	1		0	0	33	0	0	1.000000	1	0	112	0	253	0	99	371
PSME4	23198	broad.mit.edu	37	2	54133986	54133986	+	Missense_Mutation	SNP	T	T	C	rs183190432		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr2:54133986T>C	ENST00000404125.1	-	25	2859	c.2804A>G	c.(2803-2805)cAt>cGt	p.H935R	PSME4_ENST00000421748.2_Missense_Mutation_p.H79R	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	935					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TGCTCTGATATGTTGTTTTTT	0.323													T|||	1	0.000199681	0.0	0.0014	5008	,	,		20091	0.0		0.0	False		,,,				2504	0.0					ENST00000404125.1	1.000000	0.760000	1.000000	0.860000	0.950000	0.940315	0.950000	1.000000																										0				60						c.(2803-2805)cAt>cGt		proteasome (prosome, macropain) activator subunit 4							68.0	67.0	67.0					2																	54133986		2203	4300	6503	SO:0001583	missense	23198	0	0					g.chr2:54133986T>C	D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"""Proteasome (prosome, macropain) subunits"""	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.2804A>G	chr2.hg19:g.54133986T>C	ENSP00000384211:p.His935Arg	0					PSME4_ENST00000421748.2_Missense_Mutation_p.H79R	p.H935R	NM_014614.2	NP_055429.2	1	2	3	2.009146	Q14997	PSME4_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)	25	2859	-			Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Missense_Mutation	SNP	ENST00000404125.1	1	1	hg19	c.2804A>G	CCDS33197.2	1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	T	15.37	2.813146	0.50527	.	.	ENSG00000068878	ENST00000421748;ENST00000404125	T;T	0.10960	2.82;2.82	5.45	5.45	0.79879	5.45	5.45	0.79879	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.25306	0.0615	L	0.46947	1.48	0.80722	D	1	P;D;B	0.89917	0.669;1.0;0.287	B;D;B	0.74674	0.122;0.984;0.057	T	0.01266	-1.1401	10	0.25106	T	0.35	.	15.8205	0.78638	0.0:0.0:0.0:1.0	.	310;79;935	Q14997-2;Q14997-3;Q14997	.;.;PSME4_HUMAN	R	79;935	ENSP00000410830:H79R;ENSP00000384211:H935R	ENSP00000384211:H935R	H	-	2	0	0	PSME4	53987490	53987490	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.997000	0.88414	2.201000	0.70794	0.533000	0.62120	CAT	0.612365		TCGA-HV-A5A3-01A-11D-A26I-08	0.323	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	1	0	1	2	2	2	2	0	0	0	0	16	16	16	16	1	2.040000	-20.000000	1	0.610000	XM_040158		0	63	63	0	153	151	1		1	1		0	0	16	0	0	1.000000	8.343585e-01	0	4	0	6	0	63	153
CPO	130749	broad.mit.edu	37	2	207827279	207827279	+	Missense_Mutation	SNP	C	C	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr2:207827279C>A	ENST00000272852.3	+	7	764	c.718C>A	c.(718-720)Cag>Aag	p.Q240K		NM_173077.2	NP_775100.1	Q8IVL8	CBPO_HUMAN	carboxypeptidase O	240						extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		CTCTTATGGGCAGTTAATTCT	0.458																																						ENST00000272852.3	1.000000	0.680000	0.890000	0.730000	0.790000	0.818973	0.790000	0.800000																										0				14						c.(718-720)Cag>Aag		carboxypeptidase O							200.0	187.0	192.0					2																	207827279		2203	4300	6503	SO:0001583	missense	130749	0	0					g.chr2:207827279C>A		CCDS2372.1	2q34	2012-02-10			ENSG00000144410	ENSG00000144410			21011	protein-coding gene	gene with protein product	"""metallocarboxypeptidase O"", ""metallocarboxypeptidase C"""	609563				11836249	Standard	NM_173077		Approved		uc002vby.2	Q8IVL8	OTTHUMG00000088987	ENST00000272852.3:c.718C>A	chr2.hg19:g.207827279C>A	ENSP00000272852:p.Gln240Lys	1						p.Q240K	NM_173077.2	NP_775100.1	1	2	3	2.434448	Q8IVL8	CBPO_HUMAN		7	764	+			Q2M277|Q7RTW7	Missense_Mutation	SNP	ENST00000272852.3	1	1	hg19	c.718C>A	CCDS2372.1	0	.	.	.	.	.	.	.	.	.	.	C	25.7	4.667939	0.88348	.	.	ENSG00000144410	ENST00000272852	T	0.33654	1.4	5.5	5.5	0.81552	5.5	5.5	0.81552	Peptidase M14, carboxypeptidase A (3);	0.000000	0.85682	D	0.000000	T	0.67154	0.2863	M	0.89095	3.005	0.49582	D	0.999805	D	0.76494	0.999	D	0.87578	0.998	T	0.72574	-0.4252	10	0.87932	D	0	.	16.9428	0.86222	0.0:1.0:0.0:0.0	.	240	Q8IVL8	CBPO_HUMAN	K	240	ENSP00000272852:Q240K	ENSP00000272852:Q240K	Q	+	1	0	0	CPO	207535524	207535524	1.000000	0.71417	0.996000	0.52242	0.972000	0.66771	7.009000	0.76347	2.868000	0.98415	0.555000	0.69702	CAG	0.691040		TCGA-HV-A5A3-01A-11D-A26I-08	0.458	CPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000202040.2	1	0	1	2	2	2	2	0	0	0	0	79	79	79	79	1	2.040000	-20.000000	1	0.610000	NM_173077		0	158	158	0	666	662	1		1			0	0	79	0	0	1.000000	0	0	0	0	0	0	158	666
ALDH1L1	10840	broad.mit.edu	37	3	125876347	125876347	+	Missense_Mutation	SNP	G	G	C			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr3:125876347G>C	ENST00000393434.2	-	4	716	c.367C>G	c.(367-369)Ctc>Gtc	p.L123V	ALDH1L1_ENST00000455064.2_5'UTR|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.L133V|ALDH1L1_ENST00000393431.2_Missense_Mutation_p.L123V|ALDH1L1_ENST00000452905.2_Intron|ALDH1L1_ENST00000413612.1_5'Flank|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.L123V|U1_ENST00000606575.1_RNA	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	123	GART.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	CCGTGAATGAGGGTCCTAGGA	0.597																																						ENST00000393434.2	1.000000	0.770000	1.000000	0.840000	0.920000	0.919436	0.920000	1.000000																										0				52						c.(367-369)Ctc>Gtc		aldehyde dehydrogenase 1 family, member L1	Tetrahydrofolic acid(DB00116)						85.0	88.0	87.0					3																	125876347		2203	4300	6503	SO:0001583	missense	10840	0	0					g.chr3:125876347G>C	AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"""Aldehyde dehydrogenases"""	3978	protein-coding gene	gene with protein product	"""cytosolic 10-formyltetrahydrofolate dehydrogenase"""	600249	"""formyltetrahydrofolate dehydrogenase"""	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.367C>G	chr3.hg19:g.125876347G>C	ENSP00000377083:p.Leu123Val	1					ALDH1L1_ENST00000472186.1_Missense_Mutation_p.L123V|ALDH1L1_ENST00000452905.2_Intron|U1_ENST00000606575.1_RNA|ALDH1L1_ENST00000413612.1_5'Flank|ALDH1L1_ENST00000393431.2_Missense_Mutation_p.L123V|ALDH1L1_ENST00000455064.2_5'UTR|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.L133V	p.L123V	NM_012190.3	NP_036322.2	1	2	3	2.542371	O75891	AL1L1_HUMAN		4	716	-			B4DG36|E9PBX3|Q68CS1	Missense_Mutation	SNP	ENST00000393434.2	1	1	hg19	c.367C>G	CCDS3034.1	1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.953044	0.73902	.	.	ENSG00000144908	ENST00000273450;ENST00000472186;ENST00000393434;ENST00000393431;ENST00000490367;ENST00000460368;ENST00000488356	T;T;T;T;T;T;T	0.80393	-1.37;-1.37;-1.37;-1.37;-1.37;-1.37;-1.37	4.39	4.39	0.52855	4.39	4.39	0.52855	Formyl transferase, N-terminal (3);	0.000000	0.64402	D	0.000002	D	0.86289	0.5897	L	0.55481	1.735	0.80722	D	1	D;D;D	0.71674	0.998;0.997;0.998	D;D;D	0.68353	0.957;0.951;0.957	D	0.87817	0.2635	10	0.87932	D	0	.	14.4889	0.67637	0.0:0.0:1.0:0.0	.	175;30;123	Q59G10;Q9UFA9;O75891	.;.;AL1L1_HUMAN	V	133;123;123;123;123;123;123	ENSP00000273450:L133V;ENSP00000420293:L123V;ENSP00000377083:L123V;ENSP00000377081:L123V;ENSP00000418711:L123V;ENSP00000419826:L123V;ENSP00000419955:L123V	ENSP00000273450:L133V	L	-	1	0	0	ALDH1L1	127359037	127359037	1.000000	0.71417	1.000000	0.80357	0.691000	0.40173	5.858000	0.69532	2.277000	0.76020	0.467000	0.42956	CTC	0.694728		TCGA-HV-A5A3-01A-11D-A26I-08	0.597	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1	1	0	1	2	2	2	2	0	0	0	0	84	84	84	83	1	2.040000	-3.574347	1	0.610000	NM_012190		0	113	110	0	404	399	1		1	1		0	0	84	0	0	1.000000	9.998068e-01	0	13	0	34	0	113	404
CPB1	1360	broad.mit.edu	37	3	148563350	148563350	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr3:148563350C>A	ENST00000491148.1	+	10	1252	c.918C>A	c.(916-918)taC>taA	p.Y306*	CPB1_ENST00000282957.4_Nonsense_Mutation_p.Y306*			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)	306						extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			TCCACTCGTACTCCCAAATGA	0.443																																						ENST00000491148.1	1.000000	0.990000	1.000000	0.990000	0.990000	1.000000	0.990000	1.000000																										0				38						c.(916-918)taC>taA		carboxypeptidase B1 (tissue)							143.0	136.0	138.0					3																	148563350		2203	4300	6503	SO:0001587	stop_gained	1360	0	0					g.chr3:148563350C>A	AJ224866	CCDS33874.1	3q24	2012-02-10			ENSG00000153002	ENSG00000153002	3.4.17.2		2299	protein-coding gene	gene with protein product	"""pancreatic carboxypeptidase B"", ""tissue carboxypeptidase B"", ""protaminase"""	114852					Standard	XM_005247124		Approved		uc003ewl.3	P15086	OTTHUMG00000159520	ENST00000491148.1:c.918C>A	chr3.hg19:g.148563350C>A	ENSP00000417222:p.Tyr306*	1					CPB1_ENST00000282957.4_Nonsense_Mutation_p.Y306*	p.Y306*			1	2	3	2.542371	P15086	CBPB1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)	10	1252	+			O60834|Q53XJ0|Q96BQ8	Nonsense_Mutation	SNP	ENST00000491148.1	0	1	hg19	c.918C>A	CCDS33874.1	1	.	.	.	.	.	.	.	.	.	.	C	15.67	2.903423	0.52333	.	.	ENSG00000153002	ENST00000491148;ENST00000282957	.	.	.	5.69	4.71	0.59529	5.69	4.71	0.59529	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.7299	0.08489	0.0:0.662:0.0:0.338	.	.	.	.	X	306	.	ENSP00000282957:Y306X	Y	+	3	2	2	CPB1	150046040	150046040	1.000000	0.71417	1.000000	0.80357	0.093000	0.18481	2.436000	0.44819	2.677000	0.91161	0.655000	0.94253	TAC	0.694728		TCGA-HV-A5A3-01A-11D-A26I-08	0.443	CPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355928.1	1	0	1	2	2	2	2	0	0	0	0	56	56	56	56	1	2.040000	-20.000000	1	0.610000	NM_001871		0	213	212	0	344	340	1		1	0		0	0	56	0	0	1.000000	9.995649e-01	0	0	0	22	0	213	344
IGF2BP2	10644	broad.mit.edu	37	3	185364845	185364845	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr3:185364845C>T	ENST00000382199.2	-	15	1770	c.1675G>A	c.(1675-1677)Gtc>Atc	p.V559I	IGF2BP2_ENST00000457616.2_Missense_Mutation_p.V565I|IGF2BP2_ENST00000421047.2_Missense_Mutation_p.V502I|IGF2BP2_ENST00000346192.3_Missense_Mutation_p.V516I|IGF2BP2_ENST00000494906.1_5'Flank	NM_006548.4	NP_006539.3	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding protein 2	559	KH 4. {ECO:0000255|PROSITE- ProRule:PRU00117}.				anatomical structure morphogenesis (GO:0009653)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			ATAATTCTGACGATCACTTCC	0.507																																						ENST00000382199.2	1.000000	0.800000	1.000000	0.870000	0.950000	0.944677	0.950000	1.000000																										0				20						c.(1675-1677)Gtc>Atc		insulin-like growth factor 2 mRNA binding protein 2							215.0	177.0	190.0					3																	185364845		2203	4300	6503	SO:0001583	missense	10644	1	121412	31				g.chr3:185364845C>T	BC021290	CCDS3273.2, CCDS33903.1	3q27.2	2013-02-12			ENSG00000073792	ENSG00000073792		"""RNA binding motif (RRM) containing"""	28867	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 2"""	608289				10190901, 9891060	Standard	NM_001007225		Approved	IMP-2	uc003fpo.3	Q9Y6M1	OTTHUMG00000074025	ENST00000382199.2:c.1675G>A	chr3.hg19:g.185364845C>T	ENSP00000371634:p.Val559Ile	1					IGF2BP2_ENST00000421047.2_Missense_Mutation_p.V502I|IGF2BP2_ENST00000346192.3_Missense_Mutation_p.V516I|IGF2BP2_ENST00000457616.2_Missense_Mutation_p.V565I|IGF2BP2_ENST00000494906.1_5'Flank	p.V559I	NM_006548.4	NP_006539.3	1	2	3	2.542371	Q9Y6M1	IF2B2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	15	1770	-	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		A0A4Z0|B3FTN2|B3FTN3|B3FTN4	Missense_Mutation	SNP	ENST00000382199.2	1	1	hg19	c.1675G>A	CCDS3273.2	1	.	.	.	.	.	.	.	.	.	.	C	33	5.267801	0.95399	.	.	ENSG00000073792	ENST00000382199;ENST00000421047;ENST00000457616;ENST00000346192	T;T;T;T	0.33216	1.42;1.42;1.42;1.42	5.02	5.02	0.67125	5.02	5.02	0.67125	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.059424	0.64402	D	0.000002	T	0.50446	0.1616	L	0.52206	1.635	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.997;1.0	D;D;D;D;D;D	0.87578	0.977;0.997;0.997;0.997;0.915;0.998	T	0.40739	-0.9547	10	0.39692	T	0.17	-20.9324	17.4755	0.87658	0.0:1.0:0.0:0.0	.	453;496;502;565;516;559	Q9Y6M1-5;Q9Y6M1-3;Q9Y6M1-4;F8W930;Q9Y6M1-1;Q9Y6M1	.;.;.;.;.;IF2B2_HUMAN	I	559;502;565;516	ENSP00000371634:V559I;ENSP00000413787:V502I;ENSP00000410242:V565I;ENSP00000320204:V516I	ENSP00000320204:V516I	V	-	1	0	0	IGF2BP2	186847539	186847539	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.499000	0.84300	0.555000	0.69702	GTC	0.694728		TCGA-HV-A5A3-01A-11D-A26I-08	0.507	IGF2BP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000157087.2	1	0	1	2	2	2	2	0	0	0	0	57	57	57	57	1	2.040000	-20.000000	1	0.610000	NM_006548		0	124	124	0	423	419	1		1	1		0	0	57	0	0	1.000000	9.999975e-01	0	17	0	48	0	124	423
PCDHB14	56122	broad.mit.edu	37	5	140604697	140604697	+	Silent	SNP	G	G	A	rs147849897	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr5:140604697G>A	ENST00000239449.4	+	1	1620	c.1620G>A	c.(1618-1620)gcG>gcA	p.A540A	PCDHB14_ENST00000515856.2_Silent_p.A387A	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	540	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A540A(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTCCCCGGCGTTGAGCAGCG	0.682																																					Ovarian(141;50 1831 27899 33809 37648)	ENST00000239449.4	1.000000	0.970000	1.000000	0.990000	0.990000	0.998917	0.990000	1.000000																										1	Substitution - coding silent(1)	p.A540A(1)	endometrium(1)	49						c.(1618-1620)gcG>gcA		protocadherin beta 14							48.0	54.0	52.0					5																	140604697		2203	4299	6502	SO:0001819	synonymous_variant	56122	0	0					g.chr5:140604697G>A	AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"""Cadherins / Protocadherins : Clustered"""	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.1620G>A	chr5.hg19:g.140604697G>A		0					PCDHB14_ENST00000515856.2_Silent_p.A387A	p.A540A	NM_018934.2	NP_061757.1	1	2	3	2.026520	Q9Y5E9	PCDBE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)	1	1620	+			B4DPE2|Q4FZA4|Q4KN11	Silent	SNP	ENST00000239449.4	1	1	hg19	c.1620G>A	CCDS4256.1	1																																																																																								0.615858		TCGA-HV-A5A3-01A-11D-A26I-08	0.682	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	1	0	1	2	2	2	2	0	0	0	0	97	97	97	107	1	2.040000	-2.774725	1	0.610000	NM_018934		0	209	193	0	421	416	1		1	1		0	0	97	0	0	1.000000	9.894051e-01	0	9	0	8	0	209	421
ADAMTS12	81792	broad.mit.edu	37	5	33577113	33577113	+	Missense_Mutation	SNP	G	G	C			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr5:33577113G>C	ENST00000504830.1	-	19	3353	c.3018C>G	c.(3016-3018)aaC>aaG	p.N1006K	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.N921K	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1006	Spacer 2.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TAGTGCCTTTGTTTGGTTTCA	0.527										HNSCC(64;0.19)																												ENST00000504830.1	1.000000	0.320000	0.430000	0.350000	0.380000	0.415608	0.380000	0.390000																										0				216						c.(3016-3018)aaC>aaG		ADAM metallopeptidase with thrombospondin type 1 motif, 12							159.0	155.0	156.0					5																	33577113		2203	4300	6503	SO:0001583	missense	81792	0	0					g.chr5:33577113G>C	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.3018C>G	chr5.hg19:g.33577113G>C	ENSP00000422554:p.Asn1006Lys	0	HNSCC(64;0.19)				ADAMTS12_ENST00000352040.3_Missense_Mutation_p.N921K|ADAMTS12_ENST00000504582.1_5'UTR	p.N1006K	NM_030955.2	NP_112217.2	1	2	3	2.034921	P58397	ATS12_HUMAN		19	3353	-			A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	1	1	hg19	c.3018C>G	CCDS34140.1	0	.	.	.	.	.	.	.	.	.	.	G	0.106	-1.144819	0.01714	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.57595	0.39;0.39	5.14	-1.12	0.09808	5.14	-1.12	0.09808	.	0.672497	0.16125	N	0.228476	T	0.27832	0.0685	N	0.20986	0.625	0.58432	D	0.99999	B;B	0.06786	0.001;0.001	B;B	0.12156	0.007;0.001	T	0.08330	-1.0727	10	0.28530	T	0.3	.	0.6749	0.00865	0.3625:0.1167:0.2841:0.2367	.	921;1006	P58397-3;P58397	.;ATS12_HUMAN	K	1006;921	ENSP00000422554:N1006K;ENSP00000344847:N921K	ENSP00000344847:N921K	N	-	3	2	2	ADAMTS12	33612870	33612870	0.392000	0.25229	0.567000	0.28434	0.205000	0.24178	0.075000	0.14686	0.061000	0.16311	0.655000	0.94253	AAC	0.615858		TCGA-HV-A5A3-01A-11D-A26I-08	0.527	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	1	0	1	2	2	2	2	0	0	0	0	102	102	102	102	1	2.040000	-20.000000	1	0.610000	NM_030955		0	117	115	0	881	873	1		1	0		0	0	102	0	0	1.000000	1.094302e-01	0	0	0	5	0	117	881
MAST4	375449	broad.mit.edu	37	5	66462696	66462697	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr5:66462696_66462697GG>TT	ENST00000403625.2	+	29	7984_7985	c.7689_7690GG>TT	c.(7687-7692)aaGGac>aaTTac	p.2563_2564KD>NY	MAST4_ENST00000405643.1_Missense_Mutation_p.2384_2385KD>NY|MAST4_ENST00000261569.7_Missense_Mutation_p.2369_2370KD>NY|MAST4_ENST00000403666.1_Missense_Mutation_p.2374_2375KD>NY|MAST4_ENST00000404260.3_Missense_Mutation_p.2566_2567KD>NY	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	2566						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CCAAAGGGAAGGACCCTGCCCC	0.649																																						ENST00000403625.2	1.000000	0.690000|0.670000	1.000000	0.850000|0.820000	0.990000	0.946774|0.935527	0.990000	1.000000																										0				13						c.(7687-7689)aaG>aaT|c.(7690-7692)Gac>Tac		microtubule associated serine/threonine kinase family member 4																																				SO:0001583	missense	375449	0	0					g.chr5:66462696G>T|g.chr5:66462697G>T	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	Exception_encountered	chr5.hg19:g.66462696_66462697delinsTT	ENSP00000385727:p.K2563_D2564delinsNY	0					MAST4_ENST00000403666.1_Missense_Mutation_p.K2374N|MAST4_ENST00000405643.1_Missense_Mutation_p.K2384N|MAST4_ENST00000404260.3_Missense_Mutation_p.K2566N|MAST4_ENST00000261569.7_Missense_Mutation_p.K2369N|MAST4_ENST00000403666.1_Missense_Mutation_p.D2375Y|MAST4_ENST00000405643.1_Missense_Mutation_p.D2385Y|MAST4_ENST00000404260.3_Missense_Mutation_p.D2567Y|MAST4_ENST00000261569.7_Missense_Mutation_p.D2370Y	p.K2563N|p.D2564Y	NM_001164664.1	NP_001158136.1	1	2	3	2.034921	O15021	MAST4_HUMAN		29	7984|7985	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	ENST00000403625.2	0	1	hg19	c.7689G>T|c.7690G>T	CCDS54861.1	1																									4.96|4.96	-0.072|-0.072|4.96|4.96	0.13741|0.13741|0.65561|0.65561																																												0|2|0|0			66498452|66498452|66498453|66498453														0.615858		TCGA-HV-A5A3-01A-11D-A26I-08	0.649	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2	1	0	1	2	2	2	2	0	0	0	0	8	8	8	8	1	2.040000	-20.000000	1	0.610000			0	21	20	0	47|49	47|49	1		1	1		0	0	8	0	0	0.999999	9.857599e-01|9.833195e-01	0	5	0	14	0	21	47
FAT2	2196	broad.mit.edu	37	5	150945261	150945261	+	Missense_Mutation	SNP	C	C	T	rs142737825	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr5:150945261C>T	ENST00000261800.5	-	1	3244	c.3232G>A	c.(3232-3234)Gca>Aca	p.A1078T		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1078	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGAAGGCTGCGAGTCCAGTG	0.597													C|||	3	0.000599042	0.0023	0.0	5008	,	,		11388	0.0		0.0	False		,,,				2504	0.0					ENST00000261800.5	1.000000	0.830000	1.000000	0.930000	0.990000	0.977652	0.990000	1.000000																										0				196						c.(3232-3234)Gca>Aca		FAT atypical cadherin 2		C	THR/ALA	3,4403	6.2+/-15.9	0,3,2200	36.0	37.0	37.0		3232	3.2	0.2	5	dbSNP_134	37	1,8597	1.2+/-3.3	0,1,4298	yes	missense	FAT2	NM_001447.2	58	0,4,6498	TT,TC,CC		0.0116,0.0681,0.0308	benign	1078/4350	150945261	4,13000	2203	4299	6502	SO:0001583	missense	2196	15	121412	38				g.chr5:150945261C>T	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.3232G>A	chr5.hg19:g.150945261C>T	ENSP00000261800:p.Ala1078Thr	0						p.A1078T	NM_001447.2	NP_001438.1	1	2	3	2.026520	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)	1	3244	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	1	1	hg19	c.3232G>A	CCDS4317.1	1	.	.	.	.	.	.	.	.	.	.	C	11.09	1.537775	0.27475	6.81E-4	1.16E-4	ENSG00000086570	ENST00000261800	T	0.03181	4.02	4.95	3.17	0.36434	4.95	3.17	0.36434	Cadherin (4);Cadherin-like (1);	0.434861	0.21480	N	0.073843	T	0.02230	0.0069	N	0.11341	0.13	0.20307	N	0.999912	B	0.18968	0.032	B	0.14023	0.01	T	0.45101	-0.9284	10	0.39692	T	0.17	.	7.2879	0.26350	0.1444:0.7035:0.0:0.1521	.	1078	Q9NYQ8	FAT2_HUMAN	T	1078	ENSP00000261800:A1078T	ENSP00000261800:A1078T	A	-	1	0	0	FAT2	150925454	150925454	0.556000	0.26538	0.248000	0.24265	0.638000	0.38207	1.972000	0.40540	0.608000	0.30000	0.655000	0.94253	GCA	0.615858		TCGA-HV-A5A3-01A-11D-A26I-08	0.597	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	1	0	1	2	2	2	2	0	0	0	0	29	29	29	28	1	2.040000	-20.000000	1	0.610000	NM_001447		0	61	61	0	133	133	1		1			0	0	29	0	0	1.000000	0	0	0	0	0	0	61	133
FAM180A	389558	broad.mit.edu	37	7	135418752	135418752	+	Missense_Mutation	SNP	G	G	A	rs554135792		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr7:135418752G>A	ENST00000338588.3	-	3	758	c.493C>T	c.(493-495)Cgc>Tgc	p.R165C	FAM180A_ENST00000415751.1_Missense_Mutation_p.R165C|FAM180A_ENST00000435869.1_Intron	NM_205855.3	NP_995327.1	Q6UWF9	F180A_HUMAN	family with sequence similarity 180, member A	165						extracellular region (GO:0005576)				endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)	14						TGTGAGGAGCGCATCAAGTCG	0.597													G|||	1	0.000199681	0.0	0.0	5008	,	,		20056	0.0		0.0	False		,,,				2504	0.001					ENST00000338588.3	0.990000	0.580000	0.870000	0.660000	0.760000	0.771775	0.760000	0.760000																										0				14						c.(493-495)Cgc>Tgc		family with sequence similarity 180, member A							67.0	59.0	62.0					7																	135418752		2203	4300	6503	SO:0001583	missense	389558	3	121412	29				g.chr7:135418752G>A	AC091736, AK290250, AK310180, AY358803	CCDS5841.1	7q33	2008-07-25			ENSG00000189320	ENSG00000189320			33773	protein-coding gene	gene with protein product						12975309, 12690205	Standard	NM_205855		Approved	HWKM1940, UNQ1940	uc003vtd.3	Q6UWF9	OTTHUMG00000155537	ENST00000338588.3:c.493C>T	chr7.hg19:g.135418752G>A	ENSP00000342336:p.Arg165Cys	0					FAM180A_ENST00000435869.1_Intron|FAM180A_ENST00000415751.1_Missense_Mutation_p.R165C	p.R165C	NM_205855.3	NP_995327.1	1	2	3	2.000533	Q6UWF9	F180A_HUMAN		3	758	-			B2RP85	Missense_Mutation	SNP	ENST00000338588.3	1	1	hg19	c.493C>T	CCDS5841.1	0	.	.	.	.	.	.	.	.	.	.	G	19.31	3.803009	0.70682	.	.	ENSG00000189320	ENST00000338588;ENST00000415751	T;T	0.32753	1.44;1.44	5.65	3.64	0.41730	5.65	3.64	0.41730	.	0.844010	0.10623	N	0.653115	T	0.40398	0.1115	L	0.44542	1.39	0.41549	D	0.988564	D	0.65815	0.995	P	0.53861	0.736	T	0.26326	-1.0106	10	0.72032	D	0.01	-22.9136	12.1672	0.54138	0.0:0.0:0.6799:0.3201	.	165	Q6UWF9	F180A_HUMAN	C	165	ENSP00000342336:R165C;ENSP00000395467:R165C	ENSP00000342336:R165C	R	-	1	0	0	FAM180A	135069292	135069292	0.904000	0.30761	0.945000	0.38365	0.922000	0.55478	1.270000	0.33086	1.375000	0.46248	0.561000	0.74099	CGC	0.612365		TCGA-HV-A5A3-01A-11D-A26I-08	0.597	FAM180A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340554.2	1	0	1	2	2	2	2	0	0	0	0	35	35	35	35	1	2.040000	-3.990922	1	0.610000	NM_205855		0	47	47	0	156	156	1		1	0		0	0	35	0	0	1.000000	0	0	0	0	1	0	47	156
PDAP1	11333	broad.mit.edu	37	7	98995523	98995523	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr7:98995523C>T	ENST00000350498.3	-	5	729	c.449G>A	c.(448-450)cGg>cAg	p.R150Q	PDAP1_ENST00000496335.1_5'UTR	NM_014891.6	NP_055706.1	Q13442	HAP28_HUMAN	PDGFA associated protein 1	150					cell proliferation (GO:0008283)|signal transduction (GO:0007165)		poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			AGCCTCCTCCCGCTGTTTCCG	0.602																																						ENST00000350498.3	1.000000	0.830000	1.000000	0.900000	0.960000	0.957204	0.960000	1.000000																										0				9						c.(448-450)cGg>cAg		PDGFA associated protein 1							88.0	83.0	85.0					7																	98995523		2203	4300	6503	SO:0001583	missense	11333	1	121412	29				g.chr7:98995523C>T	U41745	CCDS5662.1	7q	2008-07-18			ENSG00000106244	ENSG00000106244			14634	protein-coding gene	gene with protein product	"""PDGF associated protein"""	607075				8780057	Standard	NM_014891		Approved	PAP1, PAP, HASPP28	uc003uqe.3	Q13442	OTTHUMG00000154629	ENST00000350498.3:c.449G>A	chr7.hg19:g.98995523C>T	ENSP00000222968:p.Arg150Gln	0					PDAP1_ENST00000496335.1_5'UTR	p.R150Q	NM_014891.6	NP_055706.1	1	2	3	2.000533	Q13442	HAP28_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)	5	729	-	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		D6W5S5|Q92906	Missense_Mutation	SNP	ENST00000350498.3	1	1	hg19	c.449G>A	CCDS5662.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.008410	0.97195	.	.	ENSG00000106244	ENST00000350498	.	.	.	5.13	5.13	0.70059	5.13	5.13	0.70059	Casein kinase substrate, phosphoprotein PP28 (1);	0.000000	0.85682	D	0.000000	D	0.87245	0.6129	H	0.94808	3.585	0.80722	D	1	D	0.71674	0.998	D	0.76575	0.988	D	0.90785	0.4682	9	0.87932	D	0	-12.552	18.9358	0.92584	0.0:1.0:0.0:0.0	.	150	Q13442	HAP28_HUMAN	Q	150	.	ENSP00000222968:R150Q	R	-	2	0	0	PDAP1	98833459	98833459	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.582000	0.82546	2.553000	0.86117	0.650000	0.86243	CGG	0.612365		TCGA-HV-A5A3-01A-11D-A26I-08	0.602	PDAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336388.2	1	0	0	2	2	2	2	0	0	0	0	72	72	72	72	1	2.040000	-9.162866	1	0.610000	NM_014891		0	148	145	0	355	350	1		1	1		0	0	72	0	0	1.000000	1	0	68	0	148	0	148	355
OR2A5	393046	broad.mit.edu	37	7	143747854	143747854	+	Silent	SNP	C	C	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr7:143747854C>T	ENST00000408906.2	+	1	394	c.360C>T	c.(358-360)taC>taT	p.Y120Y		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	120						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					TGATGTCCTACGATCGGTACA	0.468																																						ENST00000408906.2	1.000000	0.960000	1.000000	0.990000	0.990000	0.998361	0.990000	1.000000																										0				38						c.(358-360)taC>taT		olfactory receptor, family 2, subfamily A, member 5							176.0	176.0	176.0					7																	143747854		2106	4248	6354	SO:0001819	synonymous_variant	393046	1	121126	40				g.chr7:143747854C>T	U86278	CCDS43668.1	7q35	2013-09-20	2003-11-24		ENSG00000221836	ENSG00000221836		"""GPCR / Class A : Olfactory receptors"""	8232	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily A, member 5"""	OR2A8, OR2A26		9500546	Standard	NM_012365		Approved	OR7-138, OR7-141	uc011ktw.2	Q96R48	OTTHUMG00000158006	ENST00000408906.2:c.360C>T	chr7.hg19:g.143747854C>T		0						p.Y120Y	NM_012365.1	NP_036497.1	1	2	3	2.000533	Q96R48	OR2A5_HUMAN		1	394	+	Melanoma(164;0.0783)		B9EGX2|O43885|O43888	Silent	SNP	ENST00000408906.2	1	1	hg19	c.360C>T	CCDS43668.1	1																																																																																								0.612365		TCGA-HV-A5A3-01A-11D-A26I-08	0.468	OR2A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349986.1	1	0	1	2	2	2	2	0	0	0	0	114	114	114	114	1	2.040000	-20.000000	1	0.610000			0	309	308	0	642	640	1		1			0	0	114	0	0	1.000000	0	0	0	0	0	0	309	642
