#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
UBA2	10054	broad.mit.edu	37	19	34921468	34921485	+	Splice_Site	DEL	TATGCATTTGTAGATTGA	TATGCATTTGTAGATTGA	-	rs146650320	byFrequency	TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr19:34921468_34921485delTATGCATTTGTAGATTGA	ENST00000246548.4	+	2	208_213	c.138_143delTATGCATTTGTAGATTGA	c.(136-144)cttatgcat>ctt	p.MH47del	UBA2_ENST00000439527.2_5'UTR|CTD-2588C8.8_ENST00000592220.1_RNA	NM_005499.2	NP_005490.1	Q9UBT2	SAE2_HUMAN	ubiquitin-like modifier activating enzyme 2	47					cellular protein metabolic process (GO:0044267)|positive regulation of catalytic activity (GO:0043085)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)|SMT3-dependent protein catabolic process (GO:0019950)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|SUMO activating enzyme complex (GO:0031510)	ATP binding (GO:0005524)|enzyme activator activity (GO:0008047)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|SUMO activating enzyme activity (GO:0019948)			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			ATCTGGGGTTTATGCATTTGTAGATTGATCTGGATACT	0.362																																						ENST00000246548.4	0.400000	0.110000	0.310000	0.160000	0.220000	0.241604	0.220000	0.210000																										0				20						c.(136-144)cttatgcat>ctt		ubiquitin-like modifier activating enzyme 2																																				SO:0001630	splice_region_variant	10054	0	0					g.chr19:34921468_34921485delTATGCATTTGTAGATTGA	BC003153	CCDS12439.1	19q13.11	2008-02-05	2007-11-30	2007-11-30		ENSG00000126261		"""Ubiquitin-like modifier activating enzymes"""	30661	protein-coding gene	gene with protein product	"""UBA2, ubiquitin-activating enzyme E1 homolog (yeast)"""	613295	"""SUMO1 activating enzyme subunit 2"""	SAE2		10187858, 9920803	Standard	NM_005499		Approved	FLJ13058, HRIHFB2115, ARX	uc002nvk.3	Q9UBT2		ENST00000246548.4:c.139-1TATGCATTTGTAGATTGA>-	chr19.hg19:g.34921468_34921485delTATGCATTTGTAGATTGA		0					CTD-2588C8.8_ENST00000592220.1_RNA|UBA2_ENST00000439527.2_5'UTR	p.MH47del	NM_005499.2	NP_005490.1	0	0	0	1.997096	Q9UBT2	SAE2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.211)	2	208_213	+	Esophageal squamous(110;0.162)		B3KWB9|O95605|Q59H87|Q6IBP6|Q9NTJ1|Q9UED2	Splice_Site	DEL	ENST00000246548.4	1	1	hg19	c.138_143delTATGCATTTGTAGATTGA	CCDS12439.1	0																																																																																								0.182231		TCGA-3A-A9I7-01A-21D-A38G-08	0.362	UBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459257.3	0	0	1		16	2		0	0	0	2	138	0	138	140	1	1.940000	-8.537428	1	0.190000	NM_005499	In_Frame_Del	0	9	11	0	416	406	0	0	0	0	0	0	0	138	0	0	0.101270	4.468751e-01	0	0	0	66	0	9	416
SLC18A3	6572	broad.mit.edu	37	10	50819671	50819671	+	Silent	SNP	C	C	T			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr10:50819671C>T	ENST00000374115.3	+	1	1325	c.885C>T	c.(883-885)gcC>gcT	p.A295A	CHAT_ENST00000395559.2_5'Flank|CHAT_ENST00000395562.2_5'Flank|CHAT_ENST00000351556.3_5'Flank|CHAT_ENST00000339797.1_Intron|CHAT_ENST00000455728.2_5'Flank|CHAT_ENST00000337653.2_5'Flank	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	295					acetylcholine transport (GO:0015870)|cation transmembrane transport (GO:0098655)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)	p.A295A(1)		endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						CCGTGGTGGCCGGCGCGCTCA	0.642																																						ENST00000374115.3	0.390000	0.080000	0.300000	0.130000	0.200000	0.221455	0.200000	0.190000																										1	Substitution - coding silent(1)	p.A295A(1)	large_intestine(1)	43						c.(883-885)gcC>gcT		solute carrier family 18 (vesicular acetylcholine transporter), member 3							64.0	61.0	62.0					10																	50819671		2203	4300	6503	SO:0001819	synonymous_variant	6572	0	0					g.chr10:50819671C>T	BC007765	CCDS7231.1	10q11.2	2013-07-18	2013-07-18		ENSG00000187714	ENSG00000187714		"""Solute carriers"""	10936	protein-coding gene	gene with protein product		600336				8071310	Standard	NM_003055		Approved	VACHT	uc001jhw.3	Q16572	OTTHUMG00000018196	ENST00000374115.3:c.885C>T	chr10.hg19:g.50819671C>T		0					CHAT_ENST00000337653.2_5'Flank|CHAT_ENST00000455728.2_5'Flank|CHAT_ENST00000395559.2_5'Flank|CHAT_ENST00000395562.2_5'Flank|CHAT_ENST00000339797.1_Intron|CHAT_ENST00000351556.3_5'Flank	p.A295A	NM_003055.2	NP_003046.2	0	0	0	1.997220	Q16572	VACHT_HUMAN		1	1325	+			B2R7S1	Silent	SNP	ENST00000374115.3	0	1	hg19	c.885C>T	CCDS7231.1	0																																																																																								0.182231		TCGA-3A-A9I7-01A-21D-A38G-08	0.642	SLC18A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047995.1	0	0	1	2	2	2	2	0	0	0	0	128	128	128	124	1	1.940000	-3.386138	1	0.190000	NM_003055		0	6	6	0	317	308	0		1	0		0	0	128	0	0	0.962192	3.037911e-03	0	0	0	4	0	6	317
OVOL1	5017	broad.mit.edu	37	11	65554913	65554913	+	Silent	SNP	C	C	G			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr11:65554913C>G	ENST00000335987.3	+	1	421	c.69C>G	c.(67-69)ccC>ccG	p.P23P	RP11-770G2.4_ENST00000534178.1_RNA|RP11-770G2.4_ENST00000532454.1_RNA|RP11-770G2.4_ENST00000527453.1_RNA	NM_004561.3	NP_004552.2	O14753	OVOL1_HUMAN	ovo-like zinc finger 1	23					cytoskeleton organization (GO:0007010)|epidermal cell differentiation (GO:0009913)|germline cell cycle switching, mitotic to meiotic cell cycle (GO:0051729)|kidney development (GO:0001822)|mesoderm development (GO:0007498)|negative regulation of meiotic cell cycle phase transition (GO:1901994)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6				READ - Rectum adenocarcinoma(159;0.17)		GCGAGCTCCCCGACGAGGAGC	0.721																																						ENST00000335987.3	1.000000	0.480000	1.000000	0.780000	0.990000	0.924650	0.990000	1.000000																										0				6						c.(67-69)ccC>ccG		ovo-like zinc finger 1							29.0	29.0	29.0					11																	65554913		2192	4284	6476	SO:0001819	synonymous_variant	5017	0	0					g.chr11:65554913C>G	BC059408	CCDS8112.1	11q13	2013-10-17	2013-10-17		ENSG00000172818	ENSG00000172818		"""Zinc fingers, C2H2-type"""	8525	protein-coding gene	gene with protein product		602313	"""ovo (Drosophila) homolog-like 1"", ""ovo-like 1(Drosophila)"""			9383297	Standard	NM_004561		Approved	HOVO1	uc001ofp.3	O14753	OTTHUMG00000166600	ENST00000335987.3:c.69C>G	chr11.hg19:g.65554913C>G		0					RP11-770G2.4_ENST00000532454.1_RNA|RP11-770G2.4_ENST00000534178.1_RNA|RP11-770G2.4_ENST00000527453.1_RNA	p.P23P	NM_004561.3	NP_004552.2	1	2	3	2.017652	O14753	OVOL1_HUMAN		1	421	+			Q6PCB1	Silent	SNP	ENST00000335987.3	0	1	hg19	c.69C>G	CCDS8112.1	1																																																																																								0.193829		TCGA-3A-A9I7-01A-21D-A38G-08	0.721	OVOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390690.1	0	0	1	2	2	2	2	0	0	0	0	13	13	13	13	1	1.940000	-10.609310	1	0.190000	NM_004561		0	5	5	0	39	39	0		1	0		0	0	13	0	0	0.941401	8.959754e-01	0	0	0	35	0	5	39
CACNA1C	775	broad.mit.edu	37	12	2797804	2797804	+	Silent	SNP	C	C	T	rs369690952		TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr12:2797804C>T	ENST00000347598.4	+	48	6120	c.6120C>T	c.(6118-6120)tgC>tgT	p.C2040C	CACNA1C_ENST00000335762.5_Silent_p.C2017C|CACNA1C_ENST00000399655.1_Silent_p.C1992C|CACNA1C_ENST00000399601.1_Silent_p.C1992C|CACNA1C_ENST00000399649.1_Silent_p.C1998C|CACNA1C-AS1_ENST00000541673.1_RNA|CACNA1C_ENST00000399597.1_Silent_p.C1992C|CACNA1C_ENST00000399591.1_Silent_p.C2000C|CACNA1C_ENST00000399641.1_Silent_p.C1992C|CACNA1C_ENST00000399637.1_Silent_p.C2011C|CACNA1C_ENST00000327702.7_Silent_p.C2027C|CACNA1C_ENST00000399617.1_Silent_p.C2027C|CACNA1C_ENST00000399634.1_Silent_p.C2063C|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399595.1_Silent_p.C2000C|CACNA1C_ENST00000399603.1_Silent_p.C1992C|CACNA1C_ENST00000344100.3_Silent_p.C2033C|CACNA1C_ENST00000399629.1_Silent_p.C2009C|CACNA1C_ENST00000399644.1_Silent_p.C1992C|CACNA1C_ENST00000399606.1_Silent_p.C2012C|CACNA1C_ENST00000406454.3_Silent_p.C2063C|CACNA1C_ENST00000402845.3_Silent_p.C2011C|CACNA1C_ENST00000399621.1_Silent_p.C2011C|CACNA1C-AS1_ENST00000544517.1_RNA|CACNA1C_ENST00000399638.1_Silent_p.C2020C	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	2075					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CCATCCACTGCGGCTCCTGGG	0.721																																						ENST00000347598.4	0.280000	0.050000	0.210000	0.090000	0.140000	0.156714	0.140000	0.140000																										0				132						c.(6118-6120)tgC>tgT		calcium channel, voltage-dependent, L type, alpha 1C subunit	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	C	,,,,,,,,,,,,,,,,,,,,,,	0,3874		0,0,1937	40.0	47.0	45.0		5976,6120,6099,6081,6060,6036,6033,6033,6033,6027,6000,6000,5994,5976,5976,5976,5976,5967,5943,5976,6081,6156,6225	4.1	1.0	12		45	1,8267		0,1,4133	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CACNA1C	NM_000719.6,NM_001129827.1,NM_001129829.1,NM_001129830.1,NM_001129831.1,NM_001129832.1,NM_001129833.1,NM_001129834.1,NM_001129835.1,NM_001129836.1,NM_001129837.1,NM_001129838.1,NM_001129839.1,NM_001129840.1,NM_001129841.1,NM_001129842.1,NM_001129843.1,NM_001129844.1,NM_001129846.1,NM_001167623.1,NM_001167624.1,NM_001167625.1,NM_199460.2	,,,,,,,,,,,,,,,,,,,,,,	0,1,6070	TT,TC,CC		0.0121,0.0,0.0082	,,,,,,,,,,,,,,,,,,,,,,	1992/2139,2040/2187,2033/2180,2027/2174,2020/2167,2012/2159,2011/2158,2011/2158,2011/2158,2009/2156,2000/2147,2000/2147,1998/2145,1992/2139,1992/2139,1992/2139,1992/2139,1989/2136,1981/2128,1992/2139,2027/2174,2052/2199,2075/2222	2797804	1,12141	1937	4134	6071	SO:0001819	synonymous_variant	775	4	120860	37				g.chr12:2797804C>T	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.6120C>T	chr12.hg19:g.2797804C>T		0					CACNA1C_ENST00000399637.1_Silent_p.C2011C|CACNA1C_ENST00000399644.1_Silent_p.C1992C|CACNA1C_ENST00000399603.1_Silent_p.C1992C|CACNA1C-AS1_ENST00000541673.1_RNA|CACNA1C_ENST00000327702.7_Silent_p.C2027C|CACNA1C_ENST00000399641.1_Silent_p.C1992C|CACNA1C_ENST00000399655.1_Silent_p.C1992C|CACNA1C_ENST00000399597.1_Silent_p.C1992C|CACNA1C_ENST00000399617.1_Silent_p.C2027C|CACNA1C_ENST00000402845.3_Silent_p.C2011C|CACNA1C_ENST00000399638.1_Silent_p.C2020C|CACNA1C_ENST00000399591.1_Silent_p.C2000C|CACNA1C_ENST00000399634.1_Silent_p.C2063C|CACNA1C_ENST00000399629.1_Silent_p.C2009C|CACNA1C_ENST00000399606.1_Silent_p.C2012C|CACNA1C_ENST00000399621.1_Silent_p.C2011C|CACNA1C_ENST00000335762.5_Silent_p.C2017C|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399649.1_Silent_p.C1998C|CACNA1C-AS1_ENST00000544517.1_RNA|CACNA1C_ENST00000344100.3_Silent_p.C2033C|CACNA1C_ENST00000399601.1_Silent_p.C1992C|CACNA1C_ENST00000399595.1_Silent_p.C2000C|CACNA1C_ENST00000406454.3_Silent_p.C2063C	p.C2040C	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	0	1	1	2.010853	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	48	6120	+			B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Silent	SNP	ENST00000347598.4	0	1	hg19	c.6120C>T	CCDS44788.1	0																																																																																								0.186910		TCGA-3A-A9I7-01A-21D-A38G-08	0.721	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	0	0	1	2	11	3	2	1	1	1	1	174	174	174	173	1	1.940000	-3.213351	1	0.190000	NM_000719		0	6	6	0	456	443	0		0	0		1	0	174	0	0	0.148409	3.943564e-02	0	0	0	46	0	6	456
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	KRAS_deep			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_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	0.490000	0.920000	0.610000	0.750000	0.769312	0.750000	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	0	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	1	1	2.010853	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	1	1	hg19	c.35G>A	CCDS8703.1	0	.	.	.	.	.	.	.	.	.	.	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	0.186910		TCGA-3A-A9I7-01A-21D-A38G-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	111	111	111	111	1	1.940000	-7.665470	1	0.190000	NM_033360		643	23	22	7367	295	285	0	1	1	1	1	0	0	111	199	1	0.999999	5.773374e-01	9.999999e-01	4	21	22	347	23	295
PTHLH	5744	broad.mit.edu	37	12	28116383	28116383	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr12:28116383C>T	ENST00000545234.1	-	5	962	c.422G>A	c.(421-423)cGg>cAg	p.R141Q	PTHLH_ENST00000201015.4_Missense_Mutation_p.R141Q|PTHLH_ENST00000535992.1_Missense_Mutation_p.R141Q|PTHLH_ENST00000538310.1_Missense_Mutation_p.R141Q|PTHLH_ENST00000395868.3_Missense_Mutation_p.R141Q|PTHLH_ENST00000354417.3_Missense_Mutation_p.R141Q|PTHLH_ENST00000395872.1_Missense_Mutation_p.R141Q|PTHLH_ENST00000539239.1_Missense_Mutation_p.R141Q|RP11-993B23.3_ENST00000538113.1_RNA			P12272	PTHR_HUMAN	parathyroid hormone-like hormone	141					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cAMP metabolic process (GO:0046058)|cell-cell signaling (GO:0007267)|endochondral ossification (GO:0001958)|endoderm development (GO:0007492)|epidermis development (GO:0008544)|epithelial cell differentiation (GO:0030855)|female pregnancy (GO:0007565)|lung alveolus development (GO:0048286)|mammary gland bud elongation (GO:0060649)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|nipple sheath formation (GO:0060659)|osteoblast development (GO:0002076)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|protein processing (GO:0016485)|regulation of gene expression (GO:0010468)|skeletal system development (GO:0001501)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	hormone activity (GO:0005179)|peptide hormone receptor binding (GO:0051428)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	10	Lung SC(9;0.184)					GCGAGTTCGCCGTTTTTTCTT	0.542																																						ENST00000545234.1	0.890000	0.430000	0.770000	0.530000	0.640000	0.656007	0.640000	0.630000																										0				10						c.(421-423)cGg>cAg		parathyroid hormone-like hormone							175.0	153.0	160.0					12																	28116383		2203	4300	6503	SO:0001583	missense	5744	0	0					g.chr12:28116383C>T		CCDS8715.1, CCDS44853.1	12p12.1-p11.2	2014-01-07			ENSG00000087494	ENSG00000087494		"""Endogenous ligands"""	9607	protein-coding gene	gene with protein product	"""osteostatin"", ""parathyroid hormone-like hormone preproprotein"", ""parathyroid hormone-related protein preproprotein"""	168470				2708388	Standard	NM_002820		Approved	PTHRP, HHM, PLP, PTHR	uc001ril.3	P12272	OTTHUMG00000169221	ENST00000545234.1:c.422G>A	chr12.hg19:g.28116383C>T	ENSP00000441765:p.Arg141Gln	0					PTHLH_ENST00000395868.3_Missense_Mutation_p.R141Q|RP11-993B23.3_ENST00000538113.1_RNA|PTHLH_ENST00000201015.4_Missense_Mutation_p.R141Q|PTHLH_ENST00000395872.1_Missense_Mutation_p.R141Q|PTHLH_ENST00000354417.3_Missense_Mutation_p.R141Q|PTHLH_ENST00000535992.1_Missense_Mutation_p.R141Q|PTHLH_ENST00000539239.1_Missense_Mutation_p.R141Q|PTHLH_ENST00000538310.1_Missense_Mutation_p.R141Q	p.R141Q			0	1	1	2.010853	P12272	PTHR_HUMAN		5	962	-	Lung SC(9;0.184)		Q15251|Q6FH74	Missense_Mutation	SNP	ENST00000545234.1	1	1	hg19	c.422G>A	CCDS44853.1	0	.	.	.	.	.	.	.	.	.	.	C	31	5.072552	0.93950	.	.	ENSG00000087494	ENST00000395872;ENST00000539239;ENST00000545234;ENST00000538310;ENST00000354417;ENST00000201015;ENST00000535992;ENST00000395868;ENST00000542963	D;D;D;D;D;D;D;D;D	0.92199	-2.88;-2.88;-2.88;-2.99;-2.99;-2.87;-2.87;-2.87;-2.85	5.63	5.63	0.86233	5.63	5.63	0.86233	.	0.053580	0.64402	D	0.000001	D	0.95589	0.8566	M	0.66939	2.045	0.42178	D	0.991676	D	0.76494	0.999	D	0.72625	0.978	D	0.95866	0.8887	10	0.87932	D	0	-14.8282	18.6479	0.91418	0.0:1.0:0.0:0.0	.	141	P12272	PTHR_HUMAN	Q	141	ENSP00000379213:R141Q;ENSP00000441571:R141Q;ENSP00000441765:R141Q;ENSP00000441890:R141Q;ENSP00000346398:R141Q;ENSP00000201015:R141Q;ENSP00000440613:R141Q;ENSP00000379209:R141Q;ENSP00000444519:R141Q	ENSP00000201015:R141Q	R	-	2	0	0	PTHLH	28007650	28007650	1.000000	0.71417	0.887000	0.34795	0.994000	0.84299	4.979000	0.63806	2.657000	0.90304	0.591000	0.81541	CGG	0.186910		TCGA-3A-A9I7-01A-21D-A38G-08	0.542	PTHLH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402913.1	1	0	1	2	2	2	2	0	0	0	0	146	146	146	146	1	1.940000	-2.774692	1	0.190000	NM_198965		0	27	25	0	414	400	0		1	1		0	0	146	0	0	1.000000	9.156306e-01	0	4	0	63	0	27	414
RAD51AP1	10635	broad.mit.edu	37	12	4653066	4653066	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr12:4653066A>G	ENST00000544927.1	+	3	215	c.205A>G	c.(205-207)Aaa>Gaa	p.K69E	RAD51AP1_ENST00000352618.4_Missense_Mutation_p.K69E|RAD51AP1_ENST00000228843.9_Missense_Mutation_p.K69E|RAD51AP1_ENST00000543041.1_5'UTR|RAD51AP1_ENST00000321524.7_Missense_Mutation_p.K69E					RAD51 associated protein 1											breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)			AACCCCTAAAAAAAGGTGAGA	0.353																																						ENST00000544927.1	0.440000	0.080000	0.330000	0.140000	0.220000	0.240657	0.220000	0.200000																										0				13						c.(205-207)Aaa>Gaa		RAD51 associated protein 1							47.0	44.0	45.0					12																	4653066		2203	4299	6502	SO:0001583	missense	10635	0	0					g.chr12:4653066A>G	AF006259	CCDS8529.1, CCDS44805.1	12p13.2-p13.1	2004-09-16			ENSG00000111247	ENSG00000111247			16956	protein-coding gene	gene with protein product		603070				9396801	Standard	NM_001130862		Approved	PIR51	uc001qmw.3	Q96B01	OTTHUMG00000168125	ENST00000544927.1:c.205A>G	chr12.hg19:g.4653066A>G	ENSP00000446296:p.Lys69Glu	0					RAD51AP1_ENST00000543041.1_5'UTR|RAD51AP1_ENST00000228843.9_Missense_Mutation_p.K69E|RAD51AP1_ENST00000321524.7_Missense_Mutation_p.K69E|RAD51AP1_ENST00000352618.4_Missense_Mutation_p.K69E	p.K69E			0	1	1	2.010853			Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)	3	215	+				Missense_Mutation	SNP	ENST00000544927.1	0	1	hg19	c.205A>G		0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.02|15.02	2.708549|2.708549	0.48517|0.48517	.|.	.|.	ENSG00000111247|ENSG00000111247	ENST00000321524;ENST00000228843;ENST00000352618;ENST00000544927|ENST00000536117	T;T;T;T|T	0.32988|0.34072	1.43;1.43;1.43;1.43|1.38	5.06|5.06	5.06|5.06	0.68205|0.68205	5.06|5.06	5.06|5.06	0.68205|0.68205	.|.	0.120167|0.120167	0.51477|0.51477	D|N	0.000083|0.000083	T|T	0.45054|0.45054	0.1323|0.1323	M|M	0.75264|0.75264	2.295|2.295	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.85130|.	0.994;0.997|.	T|T	0.37979|0.37979	-0.9682|-0.9682	10|8	0.52906|0.20046	T|T	0.07|0.44	-19.6144|-19.6144	7.6299|7.6299	0.28232|0.28232	0.9038:0.0:0.0962:0.0|0.9038:0.0:0.0962:0.0	.|.	69;69|.	Q96B01;Q96B01-2|.	R51A1_HUMAN;.|.	E|R	69|63	ENSP00000323750:K69E;ENSP00000228843:K69E;ENSP00000309479:K69E;ENSP00000446296:K69E|ENSP00000444769:K63R	ENSP00000228843:K69E|ENSP00000444769:K63R	K|K	+|+	1|2	0|0	0|0	RAD51AP1|RAD51AP1	4523327|4523327	4523327|4523327	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.964000|0.964000	0.63967|0.63967	3.552000|3.552000	0.53705|0.53705	1.884000|1.884000	0.54569|0.54569	0.477000|0.477000	0.44152|0.44152	AAA|AAA	0.186910		TCGA-3A-A9I7-01A-21D-A38G-08	0.353	RAD51AP1-012	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000399208.1	0	0	1	2	2	2	2	0	0	0	0	78	78	78	75	1	1.940000	-7.157501	1	0.190000	NM_006479		0	5	5	0	250	242	0		1	0		0	0	78	0	0	0.932782	8.748650e-03	0	0	0	6	0	5	250
PDZRN4	29951	broad.mit.edu	37	12	41966629	41966629	+	Missense_Mutation	SNP	T	T	A			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr12:41966629T>A	ENST00000402685.2	+	10	2056	c.2048T>A	c.(2047-2049)aTc>aAc	p.I683N	PDZRN4_ENST00000539469.2_Missense_Mutation_p.I425N|PDZRN4_ENST00000298919.7_Missense_Mutation_p.I423N	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	683							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				TGTCAGAATATCATGCAGGCT	0.448																																						ENST00000402685.2	0.610000	0.160000	0.480000	0.240000	0.340000	0.363764	0.340000	0.330000																										0				77						c.(2047-2049)aTc>aAc		PDZ domain containing ring finger 4							99.0	91.0	94.0					12																	41966629		2203	4300	6503	SO:0001583	missense	29951	0	0					g.chr12:41966629T>A	AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"""RING-type (C3HC4) zinc fingers"""	30552	protein-coding gene	gene with protein product	"""similar to semaF cytoplasmic domain associated protein 3"""	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.2048T>A	chr12.hg19:g.41966629T>A	ENSP00000384197:p.Ile683Asn	0					PDZRN4_ENST00000539469.2_Missense_Mutation_p.I425N|PDZRN4_ENST00000298919.7_Missense_Mutation_p.I423N	p.I683N	NM_001164595.1	NP_001158067.1	0	1	1	2.010853	Q6ZMN7	PZRN4_HUMAN		10	2056	+	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)	Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	ENST00000402685.2	0	1	hg19	c.2048T>A	CCDS53777.1	0	.	.	.	.	.	.	.	.	.	.	T	18.67	3.672946	0.67928	.	.	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	D;T;T	0.81499	-1.5;3.01;3.0	4.64	4.64	0.57946	4.64	4.64	0.57946	.	0.151474	0.45126	D	0.000400	D	0.88880	0.6557	M	0.76170	2.325	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.998;0.997;0.996	D	0.90408	0.4407	10	0.87932	D	0	-34.5847	14.7814	0.69769	0.0:0.0:0.0:1.0	.	683;423;425	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	N	683;425;423	ENSP00000384197:I683N;ENSP00000439990:I425N;ENSP00000298919:I423N	ENSP00000298919:I423N	I	+	2	0	0	PDZRN4	40252896	40252896	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.997000	0.88414	2.049000	0.60858	0.528000	0.53228	ATC	0.186910		TCGA-3A-A9I7-01A-21D-A38G-08	0.448	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	1	0	1	2	2	2	2	0	0	0	0	103	103	103	100	1	1.940000	-9.891595	1	0.190000	NM_013377		0	8	8	0	245	244	0		1	0		0	0	103	0	0	0.989521	7.808217e-03	0	0	0	4	0	8	245
RPTOR	57521	broad.mit.edu	37	17	78923328	78923328	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr17:78923328C>G	ENST00000306801.3	+	28	3713	c.3351C>G	c.(3349-3351)gaC>gaG	p.D1117E	RPTOR_ENST00000544334.2_Missense_Mutation_p.D959E|RPTOR_ENST00000575542.1_3'UTR	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	1117					cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nutrient levels (GO:0031669)|insulin receptor signaling pathway (GO:0008286)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|regulation of cell size (GO:0008361)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|TORC1 complex (GO:0031931)	14-3-3 protein binding (GO:0071889)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						GGCTCTCGGACATGCTGCCAA	0.617																																						ENST00000306801.3	1.000000	0.380000	0.670000	0.450000	0.540000	0.577291	0.540000	0.540000																										0				44						c.(3349-3351)gaC>gaG		regulatory associated protein of MTOR, complex 1							146.0	139.0	141.0					17																	78923328		2203	4300	6503	SO:0001583	missense	57521	1	121412	34				g.chr17:78923328C>G		CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564		"""WD repeat domain containing"""	30287	protein-coding gene	gene with protein product	"""regulatory associated protein of mTOR"""	607130				10718198, 12150926	Standard	NM_001163034		Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.3351C>G	chr17.hg19:g.78923328C>G	ENSP00000307272:p.Asp1117Glu	0					RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Missense_Mutation_p.D959E	p.D1117E	NM_020761.2	NP_065812.1	1	2	3	2.028173	Q8N122	RPTOR_HUMAN		28	3713	+			B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Missense_Mutation	SNP	ENST00000306801.3	1	1	hg19	c.3351C>G	CCDS11773.1	0	.	.	.	.	.	.	.	.	.	.	C	12.19	1.862663	0.32884	.	.	ENSG00000141564	ENST00000306801;ENST00000544334	T;T	0.48836	0.82;0.8	4.73	4.73	0.59995	4.73	4.73	0.59995	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.56062	0.1960	L	0.39566	1.225	0.80722	D	1	D;B	0.61697	0.99;0.031	D;B	0.73380	0.98;0.01	T	0.52079	-0.8623	10	0.33940	T	0.23	.	11.2536	0.49041	0.0:0.9153:0.0:0.0847	.	959;1117	F5H7J5;Q8N122	.;RPTOR_HUMAN	E	1117;959	ENSP00000307272:D1117E;ENSP00000442479:D959E	ENSP00000307272:D1117E	D	+	3	2	2	RPTOR	76537923	76537923	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	4.572000	0.60886	2.182000	0.69389	0.462000	0.41574	GAC	0.196110		TCGA-3A-A9I7-01A-21D-A38G-08	0.617	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438125.1	1	0	1	2	2	2	2	0	0	0	0	264	264	264	260	1	1.940000	-5.988357	1	0.190000	NM_020761		0	34	34	0	637	624	0		1	1		0	0	264	0	0	1.000000	5.716883e-01	0	2	0	35	0	34	637
APCDD1	147495	broad.mit.edu	37	18	10485496	10485496	+	Missense_Mutation	SNP	A	A	G	rs547035524		TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr18:10485496A>G	ENST00000355285.5	+	4	1166	c.812A>G	c.(811-813)tAt>tGt	p.Y271C	APCDD1_ENST00000578882.1_Intron	NM_153000.4	NP_694545.1			adenomatosis polyposis coli down-regulated 1											NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				READ - Rectum adenocarcinoma(15;0.08)		CGGATCATCTATCGGTCAGAC	0.602													A|||	1	0.000199681	0.0	0.0014	5008	,	,		19374	0.0		0.0	False		,,,				2504	0.0					ENST00000355285.5	0.700000	0.330000	0.610000	0.410000	0.500000	0.516116	0.500000	0.500000																										0				22						c.(811-813)tAt>tGt		adenomatosis polyposis coli down-regulated 1							127.0	113.0	118.0					18																	10485496		2203	4300	6503	SO:0001583	missense	147495	8	121412	44				g.chr18:10485496A>G	AB056722	CCDS11849.1	18p11.21	2006-07-07			ENSG00000154856	ENSG00000154856			15718	protein-coding gene	gene with protein product		607479				12384519	Standard	NM_153000		Approved	B7323	uc002kom.4	Q8J025	OTTHUMG00000131635	ENST00000355285.5:c.812A>G	chr18.hg19:g.10485496A>G	ENSP00000347433:p.Tyr271Cys	0					APCDD1_ENST00000578882.1_Intron	p.Y271C	NM_153000.4	NP_694545.1	0	0	0	1.930840				4	1166	+				Missense_Mutation	SNP	ENST00000355285.5	1	1	hg19	c.812A>G	CCDS11849.1	0	.	.	.	.	.	.	.	.	.	.	A	12.44	1.937161	0.34189	.	.	ENSG00000154856	ENST00000355285;ENST00000423585	T	0.18016	2.24	4.9	2.39	0.29439	4.9	2.39	0.29439	.	0.373449	0.31872	N	0.006924	T	0.25865	0.0630	L	0.54323	1.7	0.80722	D	1	P	0.49307	0.922	P	0.54346	0.749	T	0.00719	-1.1595	10	0.48119	T	0.1	-27.5474	9.1807	0.37141	0.5802:0.0:0.0:0.4198	.	271	Q8J025	APCD1_HUMAN	C	271;322	ENSP00000347433:Y271C	ENSP00000347433:Y271C	Y	+	2	0	0	APCDD1	10475496	10475496	1.000000	0.71417	0.991000	0.47740	0.873000	0.50193	2.380000	0.44327	0.314000	0.23086	0.454000	0.30748	TAT	0.152985		TCGA-3A-A9I7-01A-21D-A38G-08	0.602	APCDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254529.2	1	0	1	2	2	2	2	0	0	0	0	172	172	172	171	1	1.940000	-20.000000	1	0.190000	NM_153000		0	26	26	0	493	479	0		1	0		0	0	172	0	0	1.000000	9.810225e-01	0	0	0	122	0	26	493
C18orf8	29919	broad.mit.edu	37	18	21110072	21110072	+	Silent	SNP	C	C	T			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr18:21110072C>T	ENST00000269221.3	+	17	1685	c.1575C>T	c.(1573-1575)caC>caT	p.H525H	C18orf8_ENST00000590868.1_Silent_p.H477H|C18orf8_ENST00000591367.1_3'UTR	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8	525	Mic1.					lysosomal membrane (GO:0005765)				endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TGCAGTACCACGTCCTCAGCG	0.393																																						ENST00000269221.3	0.320000	0.160000	0.280000	0.200000	0.230000	0.244364	0.230000	0.240000																										0				21						c.(1573-1575)caC>caT		chromosome 18 open reading frame 8							240.0	245.0	243.0					18																	21110072		2203	4300	6503	SO:0001819	synonymous_variant	29919	2	121412	36				g.chr18:21110072C>T	AK057192	CCDS32803.1, CCDS74199.1	18q11.2	2013-12-13			ENSG00000141452	ENSG00000141452			24326	protein-coding gene	gene with protein product	"""colon cancer associated protein Mic1"", ""macrophage inhibitory cytokine 1"""					12477932	Standard	NM_013326		Approved	MIC1, MIC-1, HsT2591	uc021uie.2	Q96DM3		ENST00000269221.3:c.1575C>T	chr18.hg19:g.21110072C>T		0					C18orf8_ENST00000590868.1_Silent_p.H477H|C18orf8_ENST00000591367.1_3'UTR	p.H525H	NM_013326.3	NP_037458.3	0	0	0	1.930840	Q96DM3	MIC1_HUMAN		17	1685	+	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)		Q9BU17|Q9Y5M0	Silent	SNP	ENST00000269221.3	1	1	hg19	c.1575C>T	CCDS32803.1	0																																																																																								0.152985		TCGA-3A-A9I7-01A-21D-A38G-08	0.393	C18orf8-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445386.1	0	0	1	2	2	2	2	0	0	0	0	539	539	539	531	1	1.940000	-2.914844	1	0.190000	NM_013326		0	38	38	0	1561	1535	0		1	1		0	0	539	0	0	1.000000	7.483041e-01	0	7	0	105	0	38	1561
ZNF521	25925	broad.mit.edu	37	18	22806967	22806967	+	Silent	SNP	G	G	A			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr18:22806967G>A	ENST00000361524.3	-	4	1063	c.915C>T	c.(913-915)agC>agT	p.S305S	ZNF521_ENST00000584787.1_Silent_p.S85S|ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000538137.2_Silent_p.S305S	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	305					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TCTTCTCCCCGCTATGCACCT	0.547			T	PAX5	ALL																																	ENST00000361524.3	0.590000	0.150000	0.460000	0.230000	0.330000	0.351580	0.330000	0.320000				Dom	yes			Dom	yes		18	18q11.2	18q11.2	25925	T	zinc finger protein 521				L	L	PAX5		ALL		0				149						c.(913-915)agC>agT		zinc finger protein 521							115.0	108.0	110.0					18																	22806967		2203	4300	6503	SO:0001819	synonymous_variant	25925	3	121412	33				g.chr18:22806967G>A	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.915C>T	chr18.hg19:g.22806967G>A		0					ZNF521_ENST00000538137.2_Silent_p.S305S|ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000584787.1_Silent_p.S85S	p.S305S	NM_015461.2	NP_056276.1	0	0	0	1.930840	Q96K83	ZN521_HUMAN		4	1063	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Silent	SNP	ENST00000361524.3	1	1	hg19	c.915C>T	CCDS32806.1	0																																																																																								0.152985		TCGA-3A-A9I7-01A-21D-A38G-08	0.547	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	0	0	1	2	2	2	2	0	0	0	0	95	95	95	94	1	1.940000	-3.433661	1	0.190000	NM_015461		0	8	8	0	242	240	0		1	0		0	0	95	0	0	0.989172	1.254137e-01	0	0	0	17	0	8	242
ZNF763	284390	broad.mit.edu	37	19	12088187	12088187	+	Splice_Site	SNP	G	G	A	rs374392113		TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr19:12088187G>A	ENST00000358987.3	+	3	259	c.132G>A	c.(130-132)ggG>ggA	p.G44G	ZNF763_ENST00000545530.1_Intron|ZNF763_ENST00000592625.1_Intron|ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000343949.5_Splice_Site_p.G47G|ZNF763_ENST00000538752.1_Splice_Site_p.G64G|ZNF763_ENST00000590798.1_Splice_Site_p.G64G			Q0D2J5	ZN763_HUMAN	zinc finger protein 763	44	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						GTATTTTAGGGAAAAAGTGGA	0.353																																						ENST00000358987.3	0.290000	0.050000	0.220000	0.090000	0.140000	0.161630	0.140000	0.140000																										0				15						c.(130-132)ggG>ggA		zinc finger protein 763		G		0,4406		0,0,2203	86.0	88.0	88.0		141	-1.6	0.0	19		88	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous-near-splice	ZNF763	NM_001012753.1		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		47/398	12088187	2,13004	2203	4300	6503	SO:0001630	splice_region_variant	284390	3	121396	38				g.chr19:12088187G>A	AK092240	CCDS45982.1	19p13.2	2014-02-12	2006-08-14		ENSG00000197054	ENSG00000197054		"""Zinc fingers, C2H2-type"", ""-"""	27614	protein-coding gene	gene with protein product							Standard	NM_001012753		Approved	ZNF440L		Q0D2J5	OTTHUMG00000156430	ENST00000358987.3:c.131-1G>A	chr19.hg19:g.12088187G>A		0					ZNF763_ENST00000592625.1_Intron|ZNF763_ENST00000343949.5_Splice_Site_p.G47G|ZNF763_ENST00000538752.1_Splice_Site_p.G64G|ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000545530.1_Intron|ZNF763_ENST00000590798.1_Splice_Site_p.G64G	p.G44G			0	0	0	1.997096	Q0D2J5	ZN763_HUMAN		3	259	+			B3KRU3|B4DRE7	Splice_Site	SNP	ENST00000358987.3	0	1	hg19	c.132G>A		0																																																																																								0.182231		TCGA-3A-A9I7-01A-21D-A38G-08	0.353	ZNF763-002	KNOWN	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000344158.1	0	0	0	2	2	2	2	0	0	0	0	119	119	119	119	1	1.940000	-2.522364	1	0.190000	NM_001012753	Silent	0	6	5	0	439	430	0		1	1		0	0	119	0	0	0.962674	5.492939e-03	0	2	0	5	0	6	439
ANKRD24	170961	broad.mit.edu	37	19	4217177	4217177	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr19:4217177G>A	ENST00000600132.1	+	18	2296	c.2020G>A	c.(2020-2022)Gcc>Acc	p.A674T	ANKRD24_ENST00000262970.5_Missense_Mutation_p.A764T|ANKRD24_ENST00000318934.4_Missense_Mutation_p.A674T	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	674										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		AAACATGGAGGCCACGGGCTC	0.612																																						ENST00000600132.1	1.000000	0.300000	1.000000	0.470000	0.700000	0.715797	0.700000	1.000000																										0				21						c.(2020-2022)Gcc>Acc		ankyrin repeat domain 24							24.0	31.0	28.0					19																	4217177		2143	4248	6391	SO:0001583	missense	170961	0	0					g.chr19:4217177G>A	AB075861	CCDS45925.1	19p13.3	2013-01-10				ENSG00000089847		"""Ankyrin repeat domain containing"""	29424	protein-coding gene	gene with protein product						11853319	Standard	NM_133475		Approved	KIAA1981	uc010dtt.1	Q8TF21		ENST00000600132.1:c.2020G>A	chr19.hg19:g.4217177G>A	ENSP00000471252:p.Ala674Thr	0					ANKRD24_ENST00000318934.4_Missense_Mutation_p.A674T|ANKRD24_ENST00000262970.5_Missense_Mutation_p.A764T	p.A674T	NM_133475.1	NP_597732.1	0	0	0	1.998454	Q8TF21	ANR24_HUMAN		18	2296	+			O75268|O95781	Missense_Mutation	SNP	ENST00000600132.1	1	1	hg19	c.2020G>A	CCDS45925.1	0	.	.	.	.	.	.	.	.	.	.	g	13.81	2.347909	0.41599	.	.	ENSG00000089847	ENST00000318934;ENST00000262970	T;T	0.39229	1.12;1.09	2.05	0.887	0.19200	2.05	0.887	0.19200	.	.	.	.	.	T	0.24353	0.0590	N	0.19112	0.55	0.22975	N	0.998482	P;D	0.53885	0.937;0.963	B;B	0.41174	0.143;0.349	T	0.12091	-1.0561	9	0.24483	T	0.36	.	8.2537	0.31741	0.0:0.0:0.7599:0.2401	.	674;764	Q8TF21;Q8TF21-2	ANR24_HUMAN;.	T	674;764	ENSP00000321731:A674T;ENSP00000262970:A764T	ENSP00000262970:A764T	A	+	1	0	0	ANKRD24	4168177	4168177	0.032000	0.19561	0.033000	0.17914	0.010000	0.07245	0.256000	0.18351	0.156000	0.19299	0.407000	0.27541	GCC	0.182231		TCGA-3A-A9I7-01A-21D-A38G-08	0.612	ANKRD24-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458188.1	1	0	1	2	2	2	2	0	0	0	0	43	43	43	43	1	1.940000	-10.653140	1	0.190000	XM_114000		0	6	6	0	85	84	0		1	0		0	0	43	0	0	0.965491	1.800383e-02	0	0	0	3	0	6	85
RYR1	6261	broad.mit.edu	37	19	38958285	38958285	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr19:38958285C>T	ENST00000359596.3	+	25	3214	c.3214C>T	c.(3214-3216)Cgc>Tgc	p.R1072C	RYR1_ENST00000360985.3_Missense_Mutation_p.R1072C|RYR1_ENST00000355481.4_Missense_Mutation_p.R1072C			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1072	6 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.R1072C(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	TGACCGGGTGCGCATCTTCCG	0.572																																						ENST00000359596.3	0.610000	0.260000	0.520000	0.330000	0.410000	0.430731	0.410000	0.410000																										1	Substitution - Missense(1)	p.R1072C(1)	large_intestine(1)	285						c.(3214-3216)Cgc>Tgc		ryanodine receptor 1 (skeletal)	Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)						103.0	97.0	99.0					19																	38958285		2203	4300	6503	SO:0001583	missense	6261	0	0					g.chr19:38958285C>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.3214C>T	chr19.hg19:g.38958285C>T	ENSP00000352608:p.Arg1072Cys	0					RYR1_ENST00000360985.3_Missense_Mutation_p.R1072C|RYR1_ENST00000355481.4_Missense_Mutation_p.R1072C	p.R1072C			0	0	0	1.997096	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)	25	3214	+	all_cancers(60;7.91e-06)		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	1	1	hg19	c.3214C>T	CCDS33011.1	0	.	.	.	.	.	.	.	.	.	.	c	11.60	1.686114	0.29962	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.97688	-4.49;-4.49;-4.49	2.92	2.92	0.33932	2.92	2.92	0.33932	B30.2/SPRY domain (1);	0.000000	0.64402	U	0.000016	D	0.98604	0.9533	M	0.85462	2.755	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.99053	1.0828	10	0.87932	D	0	.	14.736	0.69416	0.0:1.0:0.0:0.0	.	1072;1072	P21817-2;P21817	.;RYR1_HUMAN	C	1072	ENSP00000352608:R1072C;ENSP00000347667:R1072C;ENSP00000354254:R1072C	ENSP00000347667:R1072C	R	+	1	0	0	RYR1	43650125	43650125	1.000000	0.71417	1.000000	0.80357	0.604000	0.37047	5.533000	0.67160	1.966000	0.57179	0.154000	0.16183	CGC	0.182231		TCGA-3A-A9I7-01A-21D-A38G-08	0.572	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1	1	0	1	2	2	2	2	0	0	0	0	168	168	168	168	1	1.940000	-3.565176	1	0.190000			0	21	20	0	505	495	0		1			0	0	168	0	0	0.999997	0	0	0	0	0	0	21	505
NAPSA	9476	broad.mit.edu	37	19	50861863	50861863	+	Missense_Mutation	SNP	G	G	A	rs562029819		TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr19:50861863G>A	ENST00000253719.2	-	9	1418	c.1210C>T	c.(1210-1212)Cgc>Tgc	p.R404C	NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000600978.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	404					membrane protein proteolysis (GO:0033619)|proteolysis (GO:0006508)|surfactant homeostasis (GO:0043129)	alveolar lamellar body (GO:0097208)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	aspartic-type endopeptidase activity (GO:0004190)|endopeptidase activity (GO:0004175)|peptidase activity (GO:0008233)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		TCCGCTCCGCGAGTGCGAGCG	0.697																																						ENST00000253719.2	1.000000	0.250000	0.860000	0.400000	0.600000	0.630029	0.600000	1.000000																										0				12						c.(1210-1212)Cgc>Tgc		napsin A aspartic peptidase							13.0	15.0	14.0					19																	50861863		2195	4291	6486	SO:0001583	missense	9476	0	0					g.chr19:50861863G>A	AF090386	CCDS12794.1	19q13.33	2011-08-25				ENSG00000131400			13395	protein-coding gene	gene with protein product	"""kidney-derived aspartic protease-like protein"""	605631					Standard	NM_004851		Approved	NAP1, NAPA, Kdap, KAP	uc002prx.3	O96009		ENST00000253719.2:c.1210C>T	chr19.hg19:g.50861863G>A	ENSP00000253719:p.Arg404Cys	0					NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000600978.1_Intron	p.R404C	NM_004851.1	NP_004842.1	0	1	1	2.007665	O96009	NAPSA_HUMAN		9	1418	-		all_neural(266;0.057)	Q8WWD9	Missense_Mutation	SNP	ENST00000253719.2	0	1	hg19	c.1210C>T	CCDS12794.1	0	.	.	.	.	.	.	.	.	.	.	G	15.62	2.887283	0.52014	.	.	ENSG00000131400	ENST00000253719	T	0.52983	0.64	3.38	2.31	0.28768	3.38	2.31	0.28768	.	0.766391	0.11657	N	0.542216	T	0.39886	0.1095	L	0.38175	1.15	0.09310	N	1	D	0.56968	0.978	P	0.44477	0.451	T	0.20672	-1.0268	10	0.72032	D	0.01	.	9.1465	0.36937	0.0:0.2257:0.7743:0.0	.	404	O96009	NAPSA_HUMAN	C	404	ENSP00000253719:R404C	ENSP00000253719:R404C	R	-	1	0	0	NAPSA	55553675	55553675	0.002000	0.14202	0.002000	0.10522	0.002000	0.02628	1.090000	0.30902	0.688000	0.31529	-0.463000	0.05309	CGC	0.186910		TCGA-3A-A9I7-01A-21D-A38G-08	0.697	NAPSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464714.1	1	0	1	2	2	2	2	0	0	0	0	23	23	23	23	1	1.940000	-9.841152	1	0.190000	NM_004851		0	6	6	0	102	102	0		1	0		0	0	23	0	0	0.966380	2.466787e-02	0	0	0	4	0	6	102
HDLBP	3069	broad.mit.edu	37	2	242189325	242189325	+	Silent	SNP	G	G	A			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr2:242189325G>A	ENST00000391975.1	-	12	1670	c.1443C>T	c.(1441-1443)atC>atT	p.I481I	HDLBP_ENST00000427183.2_Silent_p.I448I|HDLBP_ENST00000391976.2_Silent_p.I481I|HDLBP_ENST00000310931.4_Silent_p.I481I|HDLBP_ENST00000476807.1_5'UTR	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	481	KH 5. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		CCTCGATGCGGATCAAATTGC	0.537																																						ENST00000391975.1	1.000000	0.410000	0.740000	0.500000	0.600000	0.627012	0.600000	0.590000																										0				44						c.(1441-1443)atC>atT		high density lipoprotein binding protein							204.0	156.0	173.0					2																	242189325		2203	4300	6503	SO:0001819	synonymous_variant	3069	0	0					g.chr2:242189325G>A		CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"""vigilin"""	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.1443C>T	chr2.hg19:g.242189325G>A		0					HDLBP_ENST00000427183.2_Silent_p.I448I|HDLBP_ENST00000310931.4_Silent_p.I481I|HDLBP_ENST00000391976.2_Silent_p.I481I|HDLBP_ENST00000476807.1_5'UTR	p.I481I	NM_203346.3	NP_976221	1	2	3	2.020873	Q00341	VIGLN_HUMAN		12	1670	-		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Silent	SNP	ENST00000391975.1	1	1	hg19	c.1443C>T	CCDS2547.1	0	.	.	.	.	.	.	.	.	.	.	G	11.05	1.524353	0.27299	.	.	ENSG00000115677	ENST00000373292	.	.	.	5.76	1.91	0.25777	5.76	1.91	0.25777	.	.	.	.	.	T	0.56992	0.2023	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47947	-0.9077	4	.	.	.	-25.3058	8.197	0.31402	0.1831:0.1146:0.7023:0.0	.	.	.	.	S	290	.	.	P	-	1	0	0	HDLBP	241837998	241837998	1.000000	0.71417	0.846000	0.33378	0.958000	0.62258	3.394000	0.52551	0.140000	0.18849	-0.136000	0.14681	CCG	0.194591		TCGA-3A-A9I7-01A-21D-A38G-08	0.537	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5	1	0	1	2	2	2	2	0	0	0	0	171	171	171	170	1	1.940000	-5.951295	1	0.190000	NM_203346		0	30	29	0	503	497	0		1	1		0	0	171	0	0	1.000000	1	0	51	0	462	0	30	503
C3orf20	84077	broad.mit.edu	37	3	14813595	14813595	+	Missense_Mutation	SNP	C	C	A	rs199806806		TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr3:14813595C>A	ENST00000253697.3	+	16	2969	c.2517C>A	c.(2515-2517)agC>agA	p.S839R	C3orf20_ENST00000435614.1_Missense_Mutation_p.S717R|C3orf20_ENST00000412910.1_Missense_Mutation_p.S717R	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	839						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						CTGTCCTGAGCCTGGAGGATT	0.572																																						ENST00000253697.3	0.520000	0.090000	0.390000	0.160000	0.260000	0.281852	0.260000	0.240000																										0				40						c.(2515-2517)agC>agA		chromosome 3 open reading frame 20							94.0	87.0	89.0					3																	14813595		2203	4300	6503	SO:0001583	missense	84077	0	0					g.chr3:14813595C>A	AL136781	CCDS33706.1, CCDS54555.1	3p25.1	2011-01-25			ENSG00000131379	ENSG00000131379			25320	protein-coding gene	gene with protein product						11230166	Standard	NM_032137		Approved	DKFZP434N1817	uc003byy.3	Q8ND61	OTTHUMG00000155545	ENST00000253697.3:c.2517C>A	chr3.hg19:g.14813595C>A	ENSP00000253697:p.Ser839Arg	0					C3orf20_ENST00000435614.1_Missense_Mutation_p.S717R|C3orf20_ENST00000412910.1_Missense_Mutation_p.S717R	p.S839R	NM_032137.4	NP_115513.4	0	1	1	1.915776	Q8ND61	CC020_HUMAN		16	2969	+			Q7L0U6|Q8NCP2|Q9H0I7	Missense_Mutation	SNP	ENST00000253697.3	0	1	hg19	c.2517C>A	CCDS33706.1	0	.	.	.	.	.	.	.	.	.	.	C	10.78	1.445678	0.25987	.	.	ENSG00000131379	ENST00000253697;ENST00000435614;ENST00000412910	T;T;T	0.08546	3.37;3.08;3.08	2.95	2.95	0.34219	2.95	2.95	0.34219	.	0.876695	0.09658	N	0.772847	T	0.08044	0.0201	N	0.19112	0.55	0.09310	N	1	P;P	0.39157	0.662;0.662	B;B	0.42422	0.387;0.387	T	0.32613	-0.9900	10	0.51188	T	0.08	-2.1017	9.6058	0.39632	0.0:1.0:0.0:0.0	.	717;839	Q8ND61-2;Q8ND61	.;CC020_HUMAN	R	839;717;717	ENSP00000253697:S839R;ENSP00000402933:S717R;ENSP00000396081:S717R	ENSP00000253697:S839R	S	+	3	2	2	C3orf20	14788599	14788599	0.012000	0.17670	0.029000	0.17559	0.038000	0.13279	1.422000	0.34826	1.957000	0.56846	0.491000	0.48974	AGC	0.141039		TCGA-3A-A9I7-01A-21D-A38G-08	0.572	C3orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340586.1	0	0	1	2	2	2	2	0	0	0	0	81	81	81	81	1	1.940000	-6.672548	1	0.190000	NM_032137		0	5	5	0	198	195	0		1			0	0	81	0	0	0.935855	0	0	0	0	0	0	5	198
OXSM	54995	broad.mit.edu	37	3	25832597	25832597	+	Missense_Mutation	SNP	G	G	T			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr3:25832597G>T	ENST00000280701.3	+	2	185	c.86G>T	c.(85-87)aGg>aTg	p.R29M	OXSM_ENST00000420173.2_Missense_Mutation_p.R29M|OXSM_ENST00000449808.1_3'UTR|NGLY1_ENST00000417874.2_5'Flank	NM_017897.2	NP_060367.1	Q9NWU1	OXSM_HUMAN	3-oxoacyl-ACP synthase, mitochondrial	29					acyl-CoA metabolic process (GO:0006637)|medium-chain fatty acid biosynthetic process (GO:0051792)|short-chain fatty acid biosynthetic process (GO:0051790)	mitochondrion (GO:0005739)	3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						AGAAGTAAAAGGAAGTTTTTC	0.403																																						ENST00000280701.3	0.400000	0.160000	0.330000	0.210000	0.260000	0.276440	0.260000	0.260000																										0				25						c.(85-87)aGg>aTg		3-oxoacyl-ACP synthase, mitochondrial							130.0	128.0	129.0					3																	25832597		2203	4300	6503	SO:0001583	missense	54995	0	0					g.chr3:25832597G>T	BC008202	CCDS2643.1, CCDS46780.1	3p24.2	2010-03-19			ENSG00000151093	ENSG00000151093	2.3.1.41		26063	protein-coding gene	gene with protein product	"""beta-ketoacyl synthase"""	610324				12477932	Standard	NM_017897		Approved	KS, FLJ20604, FASN2D	uc003cdn.3	Q9NWU1	OTTHUMG00000130477	ENST00000280701.3:c.86G>T	chr3.hg19:g.25832597G>T	ENSP00000280701:p.Arg29Met	0					OXSM_ENST00000420173.2_Missense_Mutation_p.R29M|OXSM_ENST00000449808.1_3'UTR|NGLY1_ENST00000417874.2_5'Flank	p.R29M	NM_017897.2	NP_060367.1	0	1	1	1.915776	Q9NWU1	OXSM_HUMAN		2	185	+				Missense_Mutation	SNP	ENST00000280701.3	1	1	hg19	c.86G>T	CCDS2643.1	0	.	.	.	.	.	.	.	.	.	.	G	2.156	-0.393253	0.04899	.	.	ENSG00000151093	ENST00000452098;ENST00000280701;ENST00000420173;ENST00000428266	.	.	.	3.7	0.885	0.19188	3.7	0.885	0.19188	.	1.235100	0.05357	N	0.533001	T	0.19087	0.0458	N	0.08118	0	0.09310	N	1	P;B	0.41848	0.763;0.327	B;B	0.43360	0.417;0.087	T	0.20505	-1.0273	9	0.72032	D	0.01	-0.3908	4.2462	0.10672	0.3102:0.1799:0.5099:0.0	.	29;29	Q9NWU1-2;Q9NWU1	.;OXSM_HUMAN	M	29	.	ENSP00000280701:R29M	R	+	2	0	0	OXSM	25807601	25807601	0.003000	0.15002	0.002000	0.10522	0.296000	0.27459	0.424000	0.21330	0.548000	0.28955	0.561000	0.74099	AGG	0.141039		TCGA-3A-A9I7-01A-21D-A38G-08	0.403	OXSM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252876.2	0	0	1	2	2	2	2	0	0	0	0	257	257	257	254	1	1.940000	-2.472598	0	0.190000	NM_017897		0	19	19	0	691	679	0		1	1		0	0	257	0	0	0.999989	1.764381e-01	0	2	0	25	0	19	691
TMCC1	23023	broad.mit.edu	37	3	129370592	129370592	+	Missense_Mutation	SNP	T	T	A			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr3:129370592T>A	ENST00000393238.3	-	6	2034	c.1694A>T	c.(1693-1695)cAg>cTg	p.Q565L	TMCC1_ENST00000329333.5_Missense_Mutation_p.Q386L|TMCC1_ENST00000426664.2_Missense_Mutation_p.Q451L|TMCC1_ENST00000432054.2_Missense_Mutation_p.Q241L	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	565						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						CTGCTGCTGCTGCAGCTCCAT	0.572																																						ENST00000393238.3	1.000000	0.050000	0.250000	0.090000	0.150000	0.208306	0.150000	0.140000																									PLXND1/TMCC1(4)	0				25						c.(1693-1695)cAg>cTg		transmembrane and coiled-coil domain family 1							79.0	76.0	77.0					3																	129370592		2203	4300	6503	SO:0001583	missense	23023	0	0					g.chr3:129370592T>A	AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"""Transmembrane and coiled-coil domain containing"""	29116	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 1"""			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.1694A>T	chr3.hg19:g.129370592T>A	ENSP00000376930:p.Gln565Leu	0					TMCC1_ENST00000329333.5_Missense_Mutation_p.Q386L|TMCC1_ENST00000426664.2_Missense_Mutation_p.Q451L|TMCC1_ENST00000432054.2_Missense_Mutation_p.Q241L	p.Q565L	NM_001017395.3	NP_001017395.2	1	2	3	2.021783	O94876	TMCC1_HUMAN		6	2034	-			A8K5Y3|B4DE04|Q68E06|Q8IXM8	Missense_Mutation	SNP	ENST00000393238.3	0	1	hg19	c.1694A>T	CCDS33855.1	0	.	.	.	.	.	.	.	.	.	.	T	20.6	4.009576	0.75046	.	.	ENSG00000172765	ENST00000432054;ENST00000393238;ENST00000426664;ENST00000329333	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	5.16	5.16	0.70880	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.61261	0.2333	L	0.46614	1.455	0.80722	D	1	D;D	0.67145	0.996;0.985	D;D	0.85130	0.997;0.973	T	0.58278	-0.7664	10	0.33940	T	0.23	-18.4911	15.1509	0.72696	0.0:0.0:0.0:1.0	.	386;565	B4DE04;O94876	.;TMCC1_HUMAN	L	241;565;451;386	ENSP00000404711:Q241L;ENSP00000376930:Q565L;ENSP00000389892:Q451L;ENSP00000327349:Q386L	ENSP00000327349:Q386L	Q	-	2	0	0	TMCC1	130853282	130853282	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.735000	0.84939	2.172000	0.68678	0.533000	0.62120	CAG	0.194591		TCGA-3A-A9I7-01A-21D-A38G-08	0.572	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	0	0	1	2	2	2	2	0	0	0	0	103	103	103	105	1	1.940000	-2.086188	0	0.190000	NM_015008		0	5	4	0	364	369	0		1	0		0	0	103	0	0	0.939690	1.053546e-01	0	0	0	33	0	5	364
ANK2	287	broad.mit.edu	37	4	114280346	114280346	+	Silent	SNP	C	C	T			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr4:114280346C>T	ENST00000357077.4	+	38	10625	c.10572C>T	c.(10570-10572)acC>acT	p.T3524T	ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Silent_p.T3491T|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3524					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CTGTTGAGACCGAGCACTCAG	0.473																																						ENST00000357077.4	0.360000	0.090000	0.280000	0.140000	0.200000	0.218914	0.200000	0.200000																										0				248						c.(10570-10572)acC>acT		ankyrin 2, neuronal							111.0	111.0	111.0					4																	114280346		2203	4300	6503	SO:0001819	synonymous_variant	287	2	121410	34				g.chr4:114280346C>T	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.10572C>T	chr4.hg19:g.114280346C>T		0					ANK2_ENST00000264366.6_Silent_p.T3491T|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron	p.T3524T	NM_001148.4	NP_001139.3	0	0	0	1.968363	Q01484	ANK2_HUMAN		38	10625	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	ENST00000357077.4	0	1	hg19	c.10572C>T	CCDS3702.1	0																																																																																								0.169486		TCGA-3A-A9I7-01A-21D-A38G-08	0.473	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	0	0	1	2	2	2	2	0	0	0	0	128	128	128	127	1	1.940000	-2.248747	0	0.190000	NM_001148		0	9	10	0	453	444	0		1	0		0	0	128	0	0	0.993840	9.824809e-03	0	0	0	7	0	9	453
TRPC3	7222	broad.mit.edu	37	4	122835976	122835976	+	Missense_Mutation	SNP	G	G	T			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr4:122835976G>T	ENST00000379645.3	-	4	1373	c.1300C>A	c.(1300-1302)Cca>Aca	p.P434T	TRPC3_ENST00000264811.5_Missense_Mutation_p.P361T|TRPC3_ENST00000513531.1_Intron	NM_001130698.1	NP_001124170.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	349					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cardiac muscle hypertrophy in response to stress (GO:1903244)|response to ATP (GO:0033198)|response to calcium ion (GO:0051592)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GCCAGGAATGGAAGGCCCAGG	0.522																																						ENST00000379645.3	0.480000	0.070000	0.350000	0.130000	0.220000	0.251563	0.220000	0.210000																										0				51						c.(1300-1302)Cca>Aca		transient receptor potential cation channel, subfamily C, member 3							116.0	88.0	97.0					4																	122835976		2203	4300	6503	SO:0001583	missense	7222	0	0					g.chr4:122835976G>T	Y13758	CCDS3725.1, CCDS47130.1	4q27	2011-12-14			ENSG00000138741	ENSG00000138741		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12335	protein-coding gene	gene with protein product		602345				8646775, 16382100	Standard	NM_003305		Approved		uc003ieg.2	Q13507	OTTHUMG00000133069	ENST00000379645.3:c.1300C>A	chr4.hg19:g.122835976G>T	ENSP00000368966:p.Pro434Thr	0					TRPC3_ENST00000264811.5_Missense_Mutation_p.P361T|TRPC3_ENST00000513531.1_Intron	p.P434T	NM_001130698.1	NP_001124170.1	0	0	0	1.968363	Q13507	TRPC3_HUMAN		4	1373	-			A7VJS1|E9PCJ9|O00593|Q15660|Q52M35|Q5G1L5	Missense_Mutation	SNP	ENST00000379645.3	0	1	hg19	c.1300C>A	CCDS47130.1	0	.	.	.	.	.	.	.	.	.	.	G	26.9	4.778659	0.90195	.	.	ENSG00000138741	ENST00000264811;ENST00000379645	T;T	0.76578	-1.03;-1.03	5.5	5.5	0.81552	5.5	5.5	0.81552	.	0.000000	0.64402	D	0.000001	D	0.91432	0.7296	M	0.93638	3.44	0.80722	D	1	D;D	0.69078	0.996;0.997	D;D	0.72982	0.979;0.964	D	0.93272	0.6652	10	0.87932	D	0	-29.0106	19.3937	0.94596	0.0:0.0:1.0:0.0	.	349;434	Q13507;Q5G1L5	TRPC3_HUMAN;.	T	361;434	ENSP00000264811:P361T;ENSP00000368966:P434T	ENSP00000264811:P361T	P	-	1	0	0	TRPC3	123055426	123055426	1.000000	0.71417	0.939000	0.37840	0.922000	0.55478	9.753000	0.98904	2.586000	0.87340	0.655000	0.94253	CCA	0.169486		TCGA-3A-A9I7-01A-21D-A38G-08	0.522	TRPC3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364252.1	0	0	1	2	2	2	2	0	0	0	0	71	71	71	71	1	1.940000	-6.000074	1	0.190000	NM_003305		0	4	4	0	193	192	0		1	0		0	0	71	0	0	0.890033	0	0	0	0	1	0	4	193
DDX60	55601	broad.mit.edu	37	4	169206628	169206628	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr4:169206628G>C	ENST00000393743.3	-	11	1652	c.1361C>G	c.(1360-1362)cCc>cGc	p.P454R		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	454					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		ACCCAAATTGGGCACCATTTC	0.318																																						ENST00000393743.3	0.550000	0.190000	0.450000	0.260000	0.340000	0.360245	0.340000	0.330000																										0				63						c.(1360-1362)cCc>cGc		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60							49.0	47.0	48.0					4																	169206628		2203	4300	6503	SO:0001583	missense	55601	0	0					g.chr4:169206628G>C	AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.1361C>G	chr4.hg19:g.169206628G>C	ENSP00000377344:p.Pro454Arg	0						p.P454R	NM_017631.5	NP_060101.3	0	0	0	1.968363	Q8IY21	DDX60_HUMAN		11	1652	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	Q6PK35|Q9NVE3	Missense_Mutation	SNP	ENST00000393743.3	1	1	hg19	c.1361C>G	CCDS34097.1	0	.	.	.	.	.	.	.	.	.	.	G	10.77	1.443929	0.25987	.	.	ENSG00000137628	ENST00000393743	T	0.19394	2.15	4.53	3.66	0.41972	4.53	3.66	0.41972	.	0.430135	0.22084	N	0.064857	T	0.41534	0.1163	M	0.77820	2.39	0.19300	N	0.999977	D	0.71674	0.998	D	0.65684	0.937	T	0.19128	-1.0315	10	0.56958	D	0.05	.	8.3075	0.32051	0.0845:0.0:0.7589:0.1567	.	454	Q8IY21	DDX60_HUMAN	R	454	ENSP00000377344:P454R	ENSP00000377344:P454R	P	-	2	0	0	DDX60	169443203	169443203	0.330000	0.24705	0.051000	0.19133	0.249000	0.25844	2.143000	0.42187	0.972000	0.38314	0.557000	0.71058	CCC	0.169486		TCGA-3A-A9I7-01A-21D-A38G-08	0.318	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364622.1	0	0	1	2	2	2	2	0	0	0	0	112	112	112	111	1	1.940000	-3.227303	1	0.190000	NM_017631		0	13	13	0	379	370	0		1	1		0	0	112	0	0	0.999478	2.239919e-01	0	4	0	21	0	13	379
SLC27A6	28965	broad.mit.edu	37	5	128326140	128326140	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr5:128326140C>T	ENST00000262462.4	+	4	1962	c.952C>T	c.(952-954)Ctt>Ttt	p.L318F	SLC27A6_ENST00000506176.1_Missense_Mutation_p.L318F|SLC27A6_ENST00000395266.1_Missense_Mutation_p.L318F			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	318					long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|transmembrane transport (GO:0055085)|very long-chain fatty acid metabolic process (GO:0000038)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		TTGTCGCTACCTTTGCAAACA	0.318																																						ENST00000262462.4	0.710000	0.190000	0.560000	0.280000	0.400000	0.425672	0.400000	0.380000																										0				44						c.(952-954)Ctt>Ttt		solute carrier family 27 (fatty acid transporter), member 6							95.0	91.0	92.0					5																	128326140		2202	4299	6501	SO:0001583	missense	28965	0	0					g.chr5:128326140C>T	AF064254	CCDS4145.1	5q23.3	2013-05-22			ENSG00000113396	ENSG00000113396		"""Acyl-CoA synthetase family"", ""Solute carriers"""	11000	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 2"""	604196				12556534, 10479480	Standard	XM_005271967		Approved	FATP6, VLCS-H1, FACVL2, ACSVL2	uc003kuy.3	Q9Y2P4	OTTHUMG00000128991	ENST00000262462.4:c.952C>T	chr5.hg19:g.128326140C>T	ENSP00000262462:p.Leu318Phe	0					SLC27A6_ENST00000506176.1_Missense_Mutation_p.L318F|SLC27A6_ENST00000395266.1_Missense_Mutation_p.L318F	p.L318F			0	0	0	1.968272	Q9Y2P4	S27A6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	4	1962	+		all_cancers(142;0.0483)|Prostate(80;0.055)	Q6IAM5|Q7Z6E6|Q86YF6	Missense_Mutation	SNP	ENST00000262462.4	0	1	hg19	c.952C>T	CCDS4145.1	0	.	.	.	.	.	.	.	.	.	.	C	20.5	4.001462	0.74818	.	.	ENSG00000113396	ENST00000508645;ENST00000262462;ENST00000395266;ENST00000506176	T;T;T;T	0.56103	0.48;0.48;0.48;0.48	4.59	4.59	0.56863	4.59	4.59	0.56863	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.81800	0.4899	H	0.98426	4.23	0.54753	D	0.999985	D	0.89917	1.0	D	0.97110	1.0	D	0.86944	0.2081	9	.	.	.	-0.0674	12.1173	0.53872	0.0:0.9204:0.0:0.0796	.	318	Q9Y2P4	S27A6_HUMAN	F	137;318;318;318	ENSP00000421759:L137F;ENSP00000262462:L318F;ENSP00000378684:L318F;ENSP00000421024:L318F	.	L	+	1	0	0	SLC27A6	128354039	128354039	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.144000	0.42197	2.835000	0.97688	0.650000	0.86243	CTT	0.169486		TCGA-3A-A9I7-01A-21D-A38G-08	0.318	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250980.1	0	0	1	2	10	2	2	1	1	1	1	84	84	84	82	1	1.940000	-3.170455	1	0.190000	NM_014031		0	8	8	0	202	199	0		0	0		1	0	84	0	0	0.389000	1.115611e-02	0	0	0	4	0	8	202
CDH18	1016	broad.mit.edu	37	5	19612555	19612555	+	Missense_Mutation	SNP	G	G	A	rs375530344		TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr5:19612555G>A	ENST00000507958.1	-	8	1789	c.799C>T	c.(799-801)Cgc>Tgc	p.R267C	CDH18_ENST00000511273.1_Missense_Mutation_p.R267C|CDH18_ENST00000502796.1_Missense_Mutation_p.R267C|CDH18_ENST00000274170.4_Missense_Mutation_p.R267C|CDH18_ENST00000382275.1_Missense_Mutation_p.R267C|CDH18_ENST00000506372.1_Missense_Mutation_p.R267C			Q13634	CAD18_HUMAN	cadherin 18, type 2	267	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TGAGGAAAGCGTGGTGGGTTG	0.378																																						ENST00000507958.1	0.520000	0.150000	0.410000	0.220000	0.300000	0.323836	0.300000	0.300000																										0				138						c.(799-801)Cgc>Tgc		cadherin 18, type 2							176.0	161.0	166.0					5																	19612555		2203	4300	6503	SO:0001583	missense	1016	0	0					g.chr5:19612555G>A	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.799C>T	chr5.hg19:g.19612555G>A	ENSP00000425093:p.Arg267Cys	0					CDH18_ENST00000506372.1_Missense_Mutation_p.R267C|CDH18_ENST00000274170.4_Missense_Mutation_p.R267C|CDH18_ENST00000382275.1_Missense_Mutation_p.R267C|CDH18_ENST00000511273.1_Missense_Mutation_p.R267C|CDH18_ENST00000502796.1_Missense_Mutation_p.R267C	p.R267C			0	0	0	1.963604	Q13634	CAD18_HUMAN		8	1789	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	1	1	hg19	c.799C>T	CCDS3889.1	0	.	.	.	.	.	.	.	.	.	.	G	13.49	2.252883	0.39797	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000515257;ENST00000511273	T;T;T;T;T;T;T	0.39229	1.09;1.09;1.09;1.09;1.09;1.09;1.09	5.95	0.216	0.15258	5.95	0.216	0.15258	Cadherin (3);Cadherin-like (1);	0.101818	0.64402	D	0.000006	T	0.52597	0.1744	L	0.52573	1.65	0.22017	N	0.99941	D;P	0.76494	0.999;0.591	P;B	0.61275	0.886;0.109	T	0.55477	-0.8135	9	.	.	.	.	16.4031	0.83649	0.0:0.0:0.3577:0.6423	.	267;267	B4DHG6;Q13634	.;CAD18_HUMAN	C	267;267;267;267;267;267;213;267	ENSP00000371710:R267C;ENSP00000425093:R267C;ENSP00000274170:R267C;ENSP00000424931:R267C;ENSP00000422138:R267C;ENSP00000427383:R213C;ENSP00000425854:R267C	.	R	-	1	0	0	CDH18	19648312	19648312	0.325000	0.24660	0.889000	0.34880	0.102000	0.19082	1.230000	0.32612	0.088000	0.17205	0.563000	0.77884	CGC	0.167865		TCGA-3A-A9I7-01A-21D-A38G-08	0.378	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	0	0	1	2	2	2	2	0	0	0	0	156	156	156	153	1	1.940000	-3.665638	1	0.190000	NM_004934		0	10	10	0	331	322	0		1			0	0	156	0	0	0.996552	0	0	0	0	0	0	10	331
CDHR2	54825	broad.mit.edu	37	5	176003131	176003131	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr5:176003131C>T	ENST00000510636.1	+	12	1413	c.1139C>T	c.(1138-1140)gCc>gTc	p.A380V	CDHR2_ENST00000261944.5_Missense_Mutation_p.A380V|CDHR2_ENST00000506348.1_Missense_Mutation_p.A380V	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	380	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GACGAGCATGCCTCCCCCCGC	0.632																																						ENST00000510636.1	0.370000	0.060000	0.270000	0.110000	0.180000	0.198709	0.180000	0.170000																										0				56						c.(1138-1140)gCc>gTc		cadherin-related family member 2							102.0	86.0	92.0					5																	176003131		2203	4300	6503	SO:0001583	missense	54825	1	121412	26				g.chr5:176003131C>T	AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"""Cadherins / Cadherin-related"""	18231	protein-coding gene	gene with protein product	"""protocadherin LKC"""		"""protocadherin 24"""	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.1139C>T	chr5.hg19:g.176003131C>T	ENSP00000424565:p.Ala380Val	0					CDHR2_ENST00000506348.1_Missense_Mutation_p.A380V|CDHR2_ENST00000261944.5_Missense_Mutation_p.A380V	p.A380V	NM_001171976.1	NP_001165447.1	0	0	0	1.958322	Q9BYE9	CDHR2_HUMAN		12	1413	+			A1L3U4|A6NC80|Q9NXP8	Missense_Mutation	SNP	ENST00000510636.1	0	1	hg19	c.1139C>T	CCDS34297.1	0	.	.	.	.	.	.	.	.	.	.	C	9.075	0.997877	0.19043	.	.	ENSG00000074276	ENST00000510636;ENST00000261944;ENST00000506348	T;T;T	0.61392	0.11;0.11;0.11	4.54	3.68	0.42216	4.54	3.68	0.42216	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.49898	0.1584	L	0.56124	1.755	0.19945	N	0.999946	B	0.10296	0.003	B	0.10450	0.005	T	0.36335	-0.9752	9	0.18276	T	0.48	-16.43	10.4136	0.44307	0.0:0.9088:0.0:0.0912	.	380	Q9BYE9	CDHR2_HUMAN	V	380	ENSP00000424565:A380V;ENSP00000261944:A380V;ENSP00000421078:A380V	ENSP00000261944:A380V	A	+	2	0	0	CDHR2	175935737	175935737	0.673000	0.27539	0.192000	0.23308	0.160000	0.22226	1.965000	0.40471	1.136000	0.42199	0.549000	0.68633	GCC	0.164604		TCGA-3A-A9I7-01A-21D-A38G-08	0.632	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	0	0	0	2	2	2	2	0	0	0	0	111	111	111	111	1	1.940000	-4.018525	1	0.190000	NM_017675		0	5	5	0	296	292	0		1	0		0	0	111	0	0	0.935835	9.891107e-01	0	1	0	527	0	5	296
HLA-DMB	3109	broad.mit.edu	37	6	32906460	32906460	+	Splice_Site	SNP	C	C	T			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr6:32906460C>T	ENST00000418107.2	-	2	600		c.e2+1		XXbac-BPG181M17.5_ENST00000429234.1_Splice_Site|HLA-DMB_ENST00000416244.2_Splice_Site|AL645941.1_ENST00000390777.1_RNA	NM_002118.4	NP_002109.2	P28068	DMB_HUMAN	major histocompatibility complex, class II, DM beta						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|immune response (GO:0006955)|MHC class II protein complex assembly (GO:0002399)|peptide antigen assembly with MHC class II protein complex (GO:0002503)|positive regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001190)|positive regulation of T cell proliferation (GO:0042102)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)	MHC class II protein complex binding (GO:0023026)			breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						TCTCTCCTCACGTGTCCTGTT	0.582																																						ENST00000418107.2	0.460000	0.110000	0.360000	0.170000	0.250000	0.271101	0.250000	0.240000																										0				13						c.e2+1		major histocompatibility complex, class II, DM beta							104.0	106.0	105.0					6																	32906460		1510	2708	4218	SO:0001630	splice_region_variant	3109	0	0					g.chr6:32906460C>T		CCDS4760.1	6p21.3	2014-05-16			ENSG00000242574	ENSG00000242574		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4935	protein-coding gene	gene with protein product		142856				1922365	Standard	NM_002118		Approved	D6S221E, RING7	uc003ocl.2	P28068	OTTHUMG00000031176	ENST00000418107.2:c.337+1G>A	chr6.hg19:g.32906460C>T		0					AL645941.1_ENST00000390777.1_RNA|XXbac-BPG181M17.5_ENST00000429234.1_Splice_Site|HLA-DMB_ENST00000416244.2_Splice_Site		NM_002118.4	NP_002109.2	0	0	0	1.956820	P28068	DMB_HUMAN		2	600	-			O77936|Q13012|Q29751|Q58ZE2|Q5SNZ8|Q5STC4|Q9XRX2	Splice_Site	SNP	ENST00000418107.2	0	1	hg19		CCDS4760.1	0	.	.	.	.	.	.	.	.	.	.	C	16.60	3.169133	0.57584	.	.	ENSG00000242574;ENSG00000242574;ENSG00000242574;ENSG00000242574;ENSG00000248993	ENST00000414017;ENST00000446948;ENST00000418107;ENST00000416244;ENST00000429234	.	.	.	5.07	5.07	0.68467	5.07	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.823	0.63333	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	XXbac-BPG181M17.5;HLA-DMB	33014438	33014438	1.000000	0.71417	0.998000	0.56505	0.876000	0.50452	2.081000	0.41596	2.631000	0.89168	0.637000	0.83480	.	0.164604		TCGA-3A-A9I7-01A-21D-A38G-08	0.582	HLA-DMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076340.2	0	0	1	2	2	2	2	1	1	1	0	122	122	122	119	1	1.940000	-3.197101	1	0.190000	NM_002118	Intron	0	7	7	0	287	283	0		1	0		1	0	122	0	0	0.979983	7.655348e-03	0	0	0	5	0	7	287
ZNF318	24149	broad.mit.edu	37	6	43307934	43307934	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr6:43307934G>C	ENST00000361428.2	-	10	3879	c.3802C>G	c.(3802-3804)Cca>Gca	p.P1268A	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1268	Lys-rich.				meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GATGATGTTGGTGATTCCTTC	0.403																																						ENST00000361428.2	0.360000	0.150000	0.310000	0.190000	0.240000	0.253016	0.240000	0.240000																										0				61						c.(3802-3804)Cca>Gca		zinc finger protein 318							146.0	147.0	147.0					6																	43307934		2203	4300	6503	SO:0001583	missense	24149	0	0					g.chr6:43307934G>C	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.3802C>G	chr6.hg19:g.43307934G>C	ENSP00000354964:p.Pro1268Ala	0					ZNF318_ENST00000318149.3_Intron	p.P1268A	NM_014345.2	NP_055160.2	0	0	0	1.956820	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)	10	3879	-			O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Missense_Mutation	SNP	ENST00000361428.2	1	1	hg19	c.3802C>G	CCDS4895.2	0	.	.	.	.	.	.	.	.	.	.	G	9.057	0.993512	0.19043	.	.	ENSG00000171467	ENST00000361428	T	0.46063	0.88	5.16	3.37	0.38596	5.16	3.37	0.38596	.	0.468764	0.19877	N	0.104057	T	0.12305	0.0299	N	0.19112	0.55	0.19300	N	0.999976	B	0.33171	0.4	B	0.33960	0.173	T	0.07654	-1.0761	10	0.56958	D	0.05	-0.0185	8.6041	0.33762	0.1777:0.0:0.8223:0.0	.	1268	Q5VUA4	ZN318_HUMAN	A	1268	ENSP00000354964:P1268A	ENSP00000354964:P1268A	P	-	1	0	0	ZNF318	43415912	43415912	0.336000	0.24757	0.270000	0.24601	0.907000	0.53573	0.707000	0.25704	0.740000	0.32651	0.655000	0.94253	CCA	0.164604		TCGA-3A-A9I7-01A-21D-A38G-08	0.403	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	0	0	1	2	2	2	2	0	0	0	0	285	285	285	284	1	1.940000	-15.061600	1	0.190000	NM_014345		0	20	19	0	820	806	0		1	0		0	0	285	0	0	0.999994	1.634064e-02	0	0	0	8	0	20	820
RADIL	55698	broad.mit.edu	37	7	4917411	4917411	+	Silent	SNP	G	G	A			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr7:4917411G>A	ENST00000399583.3	-	2	547	c.360C>T	c.(358-360)ggC>ggT	p.G120G	RADIL_ENST00000536091.1_Silent_p.G120G	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	120	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		GCCCAGCATCGCCGGCTTGGC	0.647																																						ENST00000399583.3	1.000000	0.370000	0.810000	0.480000	0.600000	0.644606	0.600000	0.580000																										0				41						c.(358-360)ggC>ggT		Ras association and DIL domains							43.0	50.0	48.0					7																	4917411		2013	4168	6181	SO:0001819	synonymous_variant	55698	3	120946	38				g.chr7:4917411G>A	AB058752	CCDS43544.1	7p22.1	2010-08-27			ENSG00000157927	ENSG00000157927			22226	protein-coding gene	gene with protein product		611491				16051602, 17704304	Standard	NM_018059		Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	Q96JH8	OTTHUMG00000151753	ENST00000399583.3:c.360C>T	chr7.hg19:g.4917411G>A		0					RADIL_ENST00000536091.1_Silent_p.G120G	p.G120G	NM_018059.4	NP_060529.4	1	2	3	2.051472	Q96JH8	RADIL_HUMAN		2	547	-		Ovarian(82;0.0175)	A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Silent	SNP	ENST00000399583.3	1	1	hg19	c.360C>T	CCDS43544.1	0																																																																																								0.200632		TCGA-3A-A9I7-01A-21D-A38G-08	0.647	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323769.2	1	0	1	2	2	2	2	0	0	0	0	156	156	156	154	1	1.940000	-5.527357	1	0.190000	NM_018059		0	21	20	0	364	357	0		1	0		0	0	156	0	0	0.999997	3.369829e-03	0	0	0	2	0	21	364
DENND2A	27147	broad.mit.edu	37	7	140301961	140301961	+	Silent	SNP	C	C	T	rs368178368	byFrequency	TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr7:140301961C>T	ENST00000275884.6	-	2	654	c.237G>A	c.(235-237)acG>acA	p.T79T	DENND2A_ENST00000496613.1_Silent_p.T79T|DENND2A_ENST00000492720.1_Silent_p.T79T|DENND2A_ENST00000537639.1_Silent_p.T79T			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	79					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					TCCTCTCCACCGTAGAGGACG	0.522																																						ENST00000275884.6	1.000000	0.550000	1.000000	0.650000	0.790000	0.812610	0.790000	0.740000																										0				49						c.(235-237)acG>acA		DENN/MADD domain containing 2A							156.0	152.0	153.0					7																	140301961		2004	4183	6187	SO:0001819	synonymous_variant	27147	0	0					g.chr7:140301961C>T	AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"""DENN/MADD domain containing"""	22212	protein-coding gene	gene with protein product			"""KIAA1277"""	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.237G>A	chr7.hg19:g.140301961C>T		1					DENND2A_ENST00000492720.1_Silent_p.T79T|DENND2A_ENST00000496613.1_Silent_p.T79T|DENND2A_ENST00000537639.1_Silent_p.T79T	p.T79T			2	3	5	2.201802	Q9ULE3	DEN2A_HUMAN		2	654	-	Melanoma(164;0.00956)		C9JUI3|Q1RMD5|Q86XY0	Silent	SNP	ENST00000275884.6	1	1	hg19	c.237G>A	CCDS43659.1	0																																																																																								0.257698		TCGA-3A-A9I7-01A-21D-A38G-08	0.522	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348742.1	1	0	1	2	2	2	2	0	0	0	0	188	188	188	183	1	1.940000	-2.619822	1	0.190000	NM_015689		0	38	38	0	543	533	0		1	0		0	0	188	1	0	1.000000	3.960872e-02	0	0	0	5	0	38	543
ARHGEF10	9639	broad.mit.edu	37	8	1841800	1841800	+	Silent	SNP	G	G	A			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr8:1841800G>A	ENST00000398564.1	+	12	1323	c.1323G>A	c.(1321-1323)aaG>aaA	p.K441K	ARHGEF10_ENST00000520359.1_Silent_p.K378K|ARHGEF10_ENST00000349830.3_Silent_p.K416K|ARHGEF10_ENST00000262112.6_Silent_p.K441K|ARHGEF10_ENST00000518288.1_Silent_p.K441K|ARHGEF10_ENST00000398560.1_Silent_p.K402K			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	441	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				centrosome duplication (GO:0051298)|myelination in peripheral nervous system (GO:0022011)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cytosol (GO:0005829)	kinesin binding (GO:0019894)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		ATGCTCTTAAGAGGATTTTGG	0.313																																						ENST00000398564.1	1.000000	0.370000	0.780000	0.480000	0.600000	0.633517	0.600000	0.590000																										0				35						c.(1321-1323)aaG>aaA		Rho guanine nucleotide exchange factor (GEF) 10							134.0	130.0	131.0					8																	1841800		2203	4300	6503	SO:0001819	synonymous_variant	9639	0	0					g.chr8:1841800G>A	AF009205	CCDS34794.1	8p23	2014-09-17			ENSG00000104728	ENSG00000104728		"""Rho guanine nucleotide exchange factors"""	14103	protein-coding gene	gene with protein product		608136				9205841, 16896804	Standard	XM_005266039		Approved	KIAA0294, Gef10	uc003wpr.3	O15013	OTTHUMG00000163626	ENST00000398564.1:c.1323G>A	chr8.hg19:g.1841800G>A		0					ARHGEF10_ENST00000520359.1_Silent_p.K378K|ARHGEF10_ENST00000518288.1_Silent_p.K441K|ARHGEF10_ENST00000349830.3_Silent_p.K416K|ARHGEF10_ENST00000398560.1_Silent_p.K402K|ARHGEF10_ENST00000262112.6_Silent_p.K441K	p.K441K			1	2	3	2.024692	O15013	ARHGA_HUMAN		12	1323	+		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)	O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	Silent	SNP	ENST00000398564.1	1	1	hg19	c.1323G>A		0																																																																																								0.195351		TCGA-3A-A9I7-01A-21D-A38G-08	0.313	ARHGEF10-203	KNOWN	basic	protein_coding	protein_coding		1	0	1	2	2	2	2	0	0	0	0	89	89	89	88	1	1.940000	-3.223548	1	0.190000			0	19	19	0	321	316	0		1	0		0	0	89	0	0	0.999990	3.268954e-01	0	1	0	19	0	19	321
DDHD2	23259	broad.mit.edu	37	8	38110300	38110300	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr8:38110300A>G	ENST00000397166.2	+	14	2203	c.1678A>G	c.(1678-1680)Atg>Gtg	p.M560V	DDHD2_ENST00000520272.2_Missense_Mutation_p.M560V|DDHD2_ENST00000517385.1_Missense_Mutation_p.M179V|DDHD2_ENST00000529845.1_Missense_Mutation_p.M11V	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2	560	DDHD. {ECO:0000255|PROSITE- ProRule:PRU00378}.				cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|microtubule organizing center (GO:0005815)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			ATTTGAGCCAATGCTGATCCC	0.453																																						ENST00000397166.2	1.000000	0.550000	1.000000	0.690000	0.850000	0.846914	0.850000	1.000000																										0				28						c.(1678-1680)Atg>Gtg		DDHD domain containing 2							149.0	130.0	136.0					8																	38110300		2203	4300	6503	SO:0001583	missense	23259	3	121412	33				g.chr8:38110300A>G	AK056525	CCDS34883.1	8p11.23	2014-03-03	2004-04-05	2004-04-07				"""Sterile alpha motif (SAM) domain containing"""	29106	protein-coding gene	gene with protein product		615003	"""SAM, WWE and DDHD domain containing 1"""	SAMWD1		9872452, 11788596, 19632984, 20932832	Standard	NM_015214		Approved	KIAA0725, SPG54	uc003xlc.3	O94830		ENST00000397166.2:c.1678A>G	chr8.hg19:g.38110300A>G	ENSP00000380352:p.Met560Val	0					DDHD2_ENST00000517385.1_Missense_Mutation_p.M179V|DDHD2_ENST00000529845.1_Missense_Mutation_p.M11V|DDHD2_ENST00000520272.2_Missense_Mutation_p.M560V	p.M560V	NM_015214.2	NP_056029.2	1	2	3	2.024692	O94830	DDHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)	14	2203	+	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	B3KWV2|B3KXB5|Q9H8X7	Missense_Mutation	SNP	ENST00000397166.2	1	1	hg19	c.1678A>G	CCDS34883.1	1	.	.	.	.	.	.	.	.	.	.	A	5.136	0.210761	0.09757	.	.	ENSG00000085788	ENST00000397166;ENST00000520272;ENST00000517385;ENST00000529845	T;T	0.24908	1.83;1.83	5.34	5.34	0.76211	5.34	5.34	0.76211	DDHD (2);	0.038953	0.85682	D	0.000000	T	0.12902	0.0313	N	0.11000	0.08	0.50813	D	0.999897	B	0.14012	0.009	B	0.15052	0.012	T	0.07065	-1.0792	10	0.02654	T	1	-27.1583	14.7906	0.69841	1.0:0.0:0.0:0.0	.	560	O94830	DDHD2_HUMAN	V	560;560;179;11	ENSP00000380352:M560V;ENSP00000429932:M560V	ENSP00000380352:M560V	M	+	1	0	0	DDHD2	38229457	38229457	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.405000	0.66351	2.143000	0.66587	0.260000	0.18958	ATG	0.195351		TCGA-3A-A9I7-01A-21D-A38G-08	0.453	DDHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377251.2	1	0	1	2	2	2	2	0	0	0	0	98	98	98	98	1	1.940000	-20.000000	1	0.190000	XM_291291		0	23	23	0	267	261	1		1	1		0	0	98	0	0	0.999999	9.493398e-01	0	6	0	54	0	23	267
CDKN2A	1029	broad.mit.edu	37	9	21971111	21971111	+	Missense_Mutation	SNP	G	G	A	rs121913385		TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr9:21971111G>A	ENST00000304494.5	-	2	517	c.247C>T	c.(247-249)Cac>Tac	p.H83Y	CDKN2A_ENST00000494262.1_Missense_Mutation_p.H32Y|CDKN2A_ENST00000479692.2_Missense_Mutation_p.H32Y|CDKN2A_ENST00000579755.1_Missense_Mutation_p.A97V|CDKN2A_ENST00000497750.1_Missense_Mutation_p.H32Y|CDKN2A_ENST00000579122.1_Missense_Mutation_p.H83Y|CDKN2A_ENST00000446177.1_Missense_Mutation_p.H83Y|CDKN2A_ENST00000361570.3_Missense_Mutation_p.A138V|CDKN2A_ENST00000578845.2_Missense_Mutation_p.H32Y|CDKN2A_ENST00000530628.2_Missense_Mutation_p.A97V|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Missense_Mutation_p.H32Y|CDKN2A_ENST00000498124.1_Missense_Mutation_p.H83Y	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	83			H -> N (in a lung tumor).|H -> Q (in dbSNP:rs34968276).|H -> Y (in a pancreas and a head and neck tumor).		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(44)|p.H83Y(30)|p.A138V(2)|p.H83fs*2(2)|p.H83N(1)|p.V82fs*62(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.R80fs*34(1)|p.V82_E88del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCAGCGTCGTGCACGGGTCGG	0.741	H83Y(CALU3_LUNG)|H83Y(HS944T_SKIN)|H83Y(JHH2_LIVER)|H83Y(OPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|H83Y(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000304494.5	1.000000	0.300000	0.920000	0.460000	0.660000	0.683413	0.660000	1.000000	H83Y(CALU3_LUNG)|H83Y(HS944T_SKIN)|H83Y(JHH2_LIVER)|H83Y(OPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|H83Y(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	17																								1403	Whole gene deletion(1316)|Unknown(44)|Substitution - Missense(33)|Deletion - Frameshift(6)|Deletion - In frame(3)|Complex - deletion inframe(1)	p.0?(1315)|p.?(44)|p.H83Y(30)|p.A138V(2)|p.H83fs*2(2)|p.H83N(1)|p.V82fs*62(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.R80fs*34(1)|p.V82_E88del(1)	haematopoietic_and_lymphoid_tissue(284)|skin(175)|central_nervous_system(171)|lung(154)|urinary_tract(93)|bone(74)|oesophagus(59)|soft_tissue(58)|upper_aerodigestive_tract(56)|pleura(51)|ovary(36)|pancreas(34)|breast(33)|kidney(32)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(9)|liver(7)|meninges(7)|large_intestine(6)|salivary_gland(5)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	4199	GRCh37	CM053801|CM056557	CDKN2A	M	rs121913385	c.(247-249)Cac>Tac		cyclin-dependent kinase inhibitor 2A							12.0	15.0	14.0					9																	21971111		2176	4259	6435	SO:0001583	missense	1029	0	0					g.chr9:21971111G>A	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.247C>T	chr9.hg19:g.21971111G>A	ENSP00000307101:p.His83Tyr	0	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000530628.2_Missense_Mutation_p.A97V|CDKN2A_ENST00000498124.1_Missense_Mutation_p.H83Y|CDKN2A_ENST00000579755.1_Missense_Mutation_p.A97V|CDKN2A_ENST00000494262.1_Missense_Mutation_p.H32Y|CDKN2A_ENST00000497750.1_Missense_Mutation_p.H32Y|CDKN2A_ENST00000578845.2_Missense_Mutation_p.H32Y|CDKN2A_ENST00000446177.1_Missense_Mutation_p.H83Y|CDKN2A_ENST00000361570.3_Missense_Mutation_p.A138V|CDKN2A_ENST00000498628.2_Missense_Mutation_p.H32Y|CDKN2A_ENST00000579122.1_Missense_Mutation_p.H83Y|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000479692.2_Missense_Mutation_p.H32Y	p.H83Y	NM_000077.4	NP_000068.1	0	1	1	1.917149	P42771	CD2A1_HUMAN		2	517	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	ENST00000304494.5	1	1	hg19	c.247C>T	CCDS6510.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.7|26.7	4.762523|4.762523	0.89932|0.89932	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000361570;ENST00000530628|ENST00000304494;ENST00000446177	T;T|T;T	0.80393|0.71222	-1.37;-1.31|-0.55;-0.55	5.93|5.93	5.93|5.93	0.95920|0.95920	5.93|5.93	5.93|5.93	0.95920|0.95920	.|Ankyrin repeat-containing domain (4);	0.000000|.	0.37261|.	N|.	0.002164|.	T|T	0.77579|0.77579	0.4151|0.4151	L|L	0.27053|0.27053	0.805|0.805	0.46521|0.46521	D|D	0.999085|0.999085	P|D	0.47191|0.76494	0.891|0.999	B|D	0.44044|0.75484	0.439|0.986	T|T	0.79024|0.79024	-0.1972|-0.1972	10|9	0.62326|0.66056	D|D	0.03|0.02	-15.192|-15.192	19.1026|19.1026	0.93279|0.93279	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	138|83	Q8N726|P42771	CD2A2_HUMAN|CD2A1_HUMAN	V|Y	138;97|83	ENSP00000355153:A138V;ENSP00000432664:A97V|ENSP00000307101:H83Y;ENSP00000394932:H83Y	ENSP00000355153:A138V|ENSP00000307101:H83Y	A|H	-|-	2|1	0|0	0|0	CDKN2A|CDKN2A	21961111|21961111	21961111|21961111	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.915000|0.915000	0.54546|0.54546	8.665000|8.665000	0.91144|0.91144	2.803000|2.803000	0.96430|0.96430	0.650000|0.650000	0.86243|0.86243	GCA|CAC	0.137564		TCGA-3A-A9I7-01A-21D-A38G-08	0.741	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	0	0	1	2	2	2	2	0	0	0	0	42	42	42	34	1	1.940000	-11.491640	1	0.190000	NM_000077		0	7	6	0	97	81	0		1	1	1	0	0	42	74	0	0.966250	9.999527e-01	9.968348e-01	340	9	10	150	7	97
