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	X1000Genome_AA	X1000Genome_AC	X1000Genome_AF	X1000Genome_AFR_AF	X1000Genome_AMR_AF	X1000Genome_AN	X1000Genome_ASN_AF	X1000Genome_AVGPOST	X1000Genome_CIEND	X1000Genome_CIPOS	X1000Genome_END	X1000Genome_ERATE	X1000Genome_EUR_AF	X1000Genome_HOMLEN	X1000Genome_HOMSEQ	X1000Genome_LDAF	X1000Genome_RSQ	X1000Genome_SNPSOURCE	X1000Genome_SVLEN	X1000Genome_SVTYPE	X1000Genome_THETA	X1000Genome_VT	ACHILLES_Lineage_Results_Top_Genes	CGC_Cancer.Germline.Mut	CGC_Cancer.Molecular.Genetics	CGC_Cancer.Somatic.Mut	CGC_Cancer.Syndrome	CGC_Chr	CGC_Chr.Band	CGC_GeneID	CGC_Name	CGC_Other.Germline.Mut	CGC_Tissue.Type	COSMIC_n_overlapping_mutations	COSMIC_overlapping_mutation_descriptions	COSMIC_overlapping_primary_sites	ClinVar_ASSEMBLY	ClinVar_HGMD_ID	ClinVar_SYM	ClinVar_TYPE	ClinVar_rs	ESP_AA	ESP_AAC	ESP_AA_AC	ESP_AA_AGE	ESP_AA_GTC	ESP_AvgAAsampleReadDepth	ESP_AvgEAsampleReadDepth	ESP_AvgSampleReadDepth	ESP_CA	ESP_CDP	ESP_CG	ESP_CP	ESP_Chromosome	ESP_DBSNP	ESP_DP	ESP_EA_AC	ESP_EA_AGE	ESP_EA_GTC	ESP_EXOME_CHIP	ESP_FG	ESP_GL	ESP_GM	ESP_GS	ESP_GTC	ESP_GTS	ESP_GWAS_PUBMED	ESP_MAF	ESP_PH	ESP_PP	ESP_Position	ESP_TAC	ESP_TotalAAsamplesCovered	ESP_TotalEAsamplesCovered	ESP_TotalSamplesCovered	Ensembl_so_accession	Ensembl_so_term	Familial_Cancer_Genes_Reference	Familial_Cancer_Genes_Synonym	HGNC_Accession.Numbers	HGNC_CCDS.IDs	HGNC_Chromosome	HGNC_Date.Modified	HGNC_Date.Name.Changed	HGNC_Date.Symbol.Changed	HGNC_Ensembl.Gene.ID	HGNC_Ensembl.ID.supplied.by.Ensembl.	HGNC_Entrez.Gene.ID	HGNC_Entrez.Gene.ID.supplied.by.NCBI.	HGNC_Enzyme.IDs	HGNC_Gene.family.description	HGNC_HGNC.ID	HGNC_Locus.Group	HGNC_Locus.Type	HGNC_Name.Synonyms	HGNC_OMIM.ID.supplied.by.NCBI.	HGNC_Previous.Names	HGNC_Previous.Symbols	HGNC_Primary.IDs	HGNC_Pubmed.IDs	HGNC_Record.Type	HGNC_RefSeq.IDs	HGNC_RefSeq.supplied.by.NCBI.	HGNC_Secondary.IDs	HGNC_Status	HGNC_Synonyms	HGNC_UCSC.ID.supplied.by.UCSC.	HGNC_UniProt.ID.supplied.by.UniProt.	HGNC_VEGA.IDs	HGVS_coding_DNA_change	HGVS_genomic_change	HGVS_protein_change	ORegAnno_bin	UniProt_alt_uniprot_accessions	build	ccds_id	dbNSFP_1000Gp1_AC	dbNSFP_1000Gp1_AF	dbNSFP_1000Gp1_AFR_AC	dbNSFP_1000Gp1_AFR_AF	dbNSFP_1000Gp1_AMR_AC	dbNSFP_1000Gp1_AMR_AF	dbNSFP_1000Gp1_ASN_AC	dbNSFP_1000Gp1_ASN_AF	dbNSFP_1000Gp1_EUR_AC	dbNSFP_1000Gp1_EUR_AF	dbNSFP_Ancestral_allele	dbNSFP_CADD_phred	dbNSFP_CADD_raw	dbNSFP_CADD_raw_rankscore	dbNSFP_ESP6500_AA_AF	dbNSFP_ESP6500_EA_AF	dbNSFP_Ensembl_geneid	dbNSFP_Ensembl_transcriptid	dbNSFP_FATHMM_pred	dbNSFP_FATHMM_rankscore	dbNSFP_FATHMM_score	dbNSFP_GERP.._NR	dbNSFP_GERP.._RS	dbNSFP_GERP.._RS_rankscore	dbNSFP_Interpro_domain	dbNSFP_LRT_Omega	dbNSFP_LRT_converted_rankscore	dbNSFP_LRT_pred	dbNSFP_LRT_score	dbNSFP_LR_pred	dbNSFP_LR_rankscore	dbNSFP_LR_score	dbNSFP_MutationAssessor_pred	dbNSFP_MutationAssessor_rankscore	dbNSFP_MutationAssessor_score	dbNSFP_MutationTaster_converted_rankscore	dbNSFP_MutationTaster_pred	dbNSFP_MutationTaster_score	dbNSFP_Polyphen2_HDIV_pred	dbNSFP_Polyphen2_HDIV_rankscore	dbNSFP_Polyphen2_HDIV_score	dbNSFP_Polyphen2_HVAR_pred	dbNSFP_Polyphen2_HVAR_rankscore	dbNSFP_Polyphen2_HVAR_score	dbNSFP_RadialSVM_pred	dbNSFP_RadialSVM_rankscore	dbNSFP_RadialSVM_score	dbNSFP_Reliability_index	dbNSFP_SIFT_converted_rankscore	dbNSFP_SIFT_pred	dbNSFP_SIFT_score	dbNSFP_SLR_test_statistic	dbNSFP_SiPhy_29way_logOdds	dbNSFP_SiPhy_29way_logOdds_rankscore	dbNSFP_SiPhy_29way_pi	dbNSFP_UniSNP_ids	dbNSFP_Uniprot_aapos	dbNSFP_Uniprot_acc	dbNSFP_Uniprot_id	dbNSFP_aaalt	dbNSFP_aapos	dbNSFP_aapos_FATHMM	dbNSFP_aapos_SIFT	dbNSFP_aaref	dbNSFP_cds_strand	dbNSFP_codonpos	dbNSFP_fold.degenerate	dbNSFP_genename	dbNSFP_hg18_pos.1.coor.	dbNSFP_phastCons100way_vertebrate	dbNSFP_phastCons100way_vertebrate_rankscore	dbNSFP_phastCons46way_placental	dbNSFP_phastCons46way_placental_rankscore	dbNSFP_phastCons46way_primate	dbNSFP_phastCons46way_primate_rankscore	dbNSFP_phyloP100way_vertebrate	dbNSFP_phyloP100way_vertebrate_rankscore	dbNSFP_phyloP46way_placental	dbNSFP_phyloP46way_placental_rankscore	dbNSFP_phyloP46way_primate	dbNSFP_phyloP46way_primate_rankscore	dbNSFP_refcodon	gencode_transcript_name	gencode_transcript_status	gencode_transcript_tags	gencode_transcript_type	gene_id	gene_type	havana_transcript	secondary_variant_classification	strand	transcript_id	variant_classification	variant_type	key	t_ref_count	t_alt_count
ABHD15	116236	broad.mit.edu	37	17	27889843	27889843	+	Silent	SNP	G	G	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr17:27889843G>A	ENST00000307201.4	-	2	1313	c.1143C>T	c.(1141-1143)ttC>ttT	p.F381F	RP11-68I3.2_ENST00000581474.1_RNA	NM_198147.2	NP_937790.2	Q6UXT9	ABH15_HUMAN	abhydrolase domain containing 15	381						extracellular region	carboxylesterase activity			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	10						GCAGGAGGAAGAAGTAGGGGT	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	72	71			NA	NA	17		NA											NA				27889843		2203	4300	6503	SO:0001819	synonymous_variant			AK056717	CCDS32602.1	17q11.2	2009-11-20			ENSG00000168792	ENSG00000168792	116236	116236		Abhydrolase domain containing	26971	protein-coding gene	gene with protein product					NA	12975309	Standard	NM_198147	NM_198147	NA	Approved		uc002hed.2	Q6UXT9		ENST00000307201.4:c.1143C>T	17.37:g.27889843G>A		NA	Q96EC5	37	CCDS32602.1																																																																																			ABHD15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000447796.2		-	ENST00000307201.4	Silent	SNP	17 : 27889843 - 27889843 A PAAD-TCGA-HZ-A4BH-Tumor-SM-47KKJ	505	39
ADAD2	161931	broad.mit.edu	37	16	84229512	84229512	+	Missense_Mutation	SNP	G	G	A	rs142081193	byFrequency	TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr16:84229512G>A	ENST00000268624.3	+	8	1483	c.1390G>A	c.(1390-1392)Gtg>Atg	p.V464M	RP11-486L19.2_ENST00000536986.1_RNA|RP11-486L19.2_ENST00000565643.1_RNA|ADAD2_ENST00000315906.5_Missense_Mutation_p.V382M|RP11-486L19.2_ENST00000569834.1_RNA	NM_139174.3	NP_631913.3	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	382	A to I editase.				RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						TGTGTGCTACGTGGCGCCCTC	0.716		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													22	26	24			NA	NA	16		NA											NA				84229512		2198	4298	6496	SO:0001583	missense			AF447586	CCDS10944.1, CCDS45536.1	16q24.1	2007-05-31			ENSG00000140955	ENSG00000140955	161931	161931			30714	protein-coding gene	gene with protein product					NA		Standard	NM_139174	NM_139174	NA	Approved	TENRL, FLJ00337	uc002fhr.2	Q8NCV1	OTTHUMG00000137637	ENST00000268624.3:c.1390G>A	16.37:g.84229512G>A	ENSP00000268624:p.Val464Met	NA	B2RCL6|Q8NA94	37	CCDS10944.1	.	.	.	.	.	.	.	.	.	.	G	12.26	1.885176	0.33255	.	.	ENSG00000140955	ENST00000315906;ENST00000268624	D;D	0.94280	-3.39;-3.39	5.49	-2.27	0.06846	Adenosine deaminase/editase (2);	0.653207	0.14249	N	0.331597	D	0.86928	0.6051	L	0.53617	1.68	0.31539	N	0.660181	P;P	0.45396	0.857;0.856	B;B	0.33890	0.172;0.114	T	0.81936	-0.0705	10	0.33940	T	0.23	-14.3004	9.5447	0.39273	0.1738:0.6193:0.2068:0.0	.	382;464	Q8NCV1;Q8NCV1-2	ADAD2_HUMAN;.	M	382;464	ENSP00000325153:V382M;ENSP00000268624:V464M	ENSP00000268624:V464M	V	+	1	0	ADAD2	82787013	0.006000	0.16342	0.724000	0.30704	0.475000	0.33008	0.019000	0.13444	-0.237000	0.09739	0.561000	0.74099	GTG	ADAD2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269078.1		+	ENST00000268624.3	Missense_Mutation	SNP	16 : 84229512 - 84229512 A PAAD-TCGA-HZ-A4BH-Tumor-SM-47KKJ	185	15
ADAMTS16	170690	broad.mit.edu	37	5	5239938	5239938	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr5:5239938G>A	ENST00000274181.7	+	16	2561	c.2423G>A	c.(2422-2424)cGg>cAg	p.R808Q		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	808	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TGGCCCGGCCGGTACAAATTT	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	94	95			NA	NA	5		NA											NA				5239938		1859	4088	5947	SO:0001583	missense			AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536	170690	170690		ADAM metallopeptidases with thrombospondin type 1 motif	17108	protein-coding gene	gene with protein product		607510	a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16		NA	11867212	Standard	NM_139056	NM_139056	NA	Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.2423G>A	5.37:g.5239938G>A	ENSP00000274181:p.Arg808Gln	NA	C6G490|Q8IVE2	37	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	G	14.86	2.660533	0.47572	.	.	ENSG00000145536	ENST00000274181;ENST00000536857	T	0.50277	0.75	5.56	4.69	0.59074	ADAM-TS Spacer 1 (1);	0.275899	0.31020	N	0.008407	T	0.32041	0.0816	L	0.35542	1.07	0.09310	N	0.999998	B;B	0.26081	0.141;0.085	B;B	0.18561	0.02;0.022	T	0.14868	-1.0457	10	0.26408	T	0.33	.	7.7049	0.28644	0.246:0.0:0.754:0.0	.	808;808	Q8TE57;Q8TE57-2	ATS16_HUMAN;.	Q	808	ENSP00000274181:R808Q	ENSP00000274181:R808Q	R	+	2	0	ADAMTS16	5292938	0.005000	0.15991	0.498000	0.27564	0.973000	0.67179	1.239000	0.32719	1.355000	0.45865	0.655000	0.94253	CGG	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000365657.1		+	ENST00000274181.7	Missense_Mutation	SNP	5 : 5239938 - 5239938 A PAAD-TCGA-HZ-A4BH-Tumor-SM-47KKJ	757	54
AGAP2	116986	broad.mit.edu	37	12	58127884	58127884	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr12:58127884G>A	ENST00000257897.3	-	5	551	c.466C>T	c.(466-468)Cgt>Tgt	p.R156C	AGAP2_ENST00000547588.1_Missense_Mutation_p.R492C	NM_014770.3	NP_055585.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	492					axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding	p.R156S(1)		breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						CCATGGAGACGGCTCACAGCC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	lung(1)											63	52	56			NA	NA	12		NA											NA				58127884		2203	4300	6503	SO:0001583	missense			AF413077	CCDS8951.1, CCDS44932.1	12q13.2	2013-05-30	2008-09-22	2008-09-22	ENSG00000135439	ENSG00000135439	116986	116986		ADP-ribosylation factor GTPase activating proteins, Pleckstrin homology (PH) domain containing, Ankyrin repeat domain containing	16921	protein-coding gene	gene with protein product		605476	centaurin, gamma 1	CENTG1	NA		Standard	NM_014770	NM_001122772	NA	Approved		uc001spq.3	Q99490	OTTHUMG00000170285	ENST00000257897.3:c.466C>T	12.37:g.58127884G>A	ENSP00000257897:p.Arg156Cys	NA	A8K9F7|O00578|Q548E0|Q8IWU3	37	CCDS8951.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.31|16.31	3.086143|3.086143	0.55861|0.55861	.|.	.|.	ENSG00000135439|ENSG00000135439	ENST00000328568|ENST00000257897;ENST00000547588	.|T;T	.|0.23552	.|1.9;1.9	5.43|5.43	3.6|3.6	0.41247|0.41247	.|Mitochondrial Rho-like (1);	.|0.401538	.|0.26092	.|N	.|0.026393	T|T	0.43986|0.43986	0.1272|0.1272	L|L	0.52905|0.52905	1.665|1.665	0.39166|0.39166	D|D	0.962491|0.962491	.|D;D;D	.|0.89917	.|0.996;1.0;1.0	.|P;D;D	.|0.70487	.|0.671;0.948;0.969	T|T	0.34850|0.34850	-0.9812|-0.9812	5|10	.|0.56958	.|D	.|0.05	.|.	13.0081|13.0081	0.58717|0.58717	0.1502:0.0:0.8498:0.0|0.1502:0.0:0.8498:0.0	.|.	.|156;492;492	.|Q99490-2;F8VVT9;Q99490	.|.;.;AGAP2_HUMAN	L|C	355|156;492	.|ENSP00000257897:R156C;ENSP00000449241:R492C	.|ENSP00000257897:R156C	P|R	-|-	2|1	0|0	AGAP2|AGAP2	56414151|56414151	0.258000|0.258000	0.24033|0.24033	1.000000|1.000000	0.80357|0.80357	0.947000|0.947000	0.59692|0.59692	0.557000|0.557000	0.23454|0.23454	0.378000|0.378000	0.24764|0.24764	-1.134000|-1.134000	0.01955|0.01955	CCG|CGT	AGAP2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000408366.1		-	ENST00000257897.3	Missense_Mutation	SNP	12 : 58127884 - 58127884 A PAAD-TCGA-HZ-A4BH-Tumor-SM-47KKJ	216	15
ANKRD30A	91074	broad.mit.edu	37	10	37506771	37506771	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr10:37506771A>G	ENST00000374660.1	+	39	3520	c.3421A>G	c.(3421-3423)Ata>Gta	p.I1141V	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.I1022V|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.I1022V			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1116						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AATACAAGATATAGAATTGAA	0.274		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	62	62			NA	NA	10		NA											NA				37506771		1806	4060	5866	SO:0001583	missense			AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513	91074	91074		Ankyrin repeat domain containing	17234	protein-coding gene	gene with protein product	breast cancer antigen NY-BR-1	610856			NA	11280766	Standard	NM_052997	NM_052997	NA	Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000374660.1:c.3421A>G	10.37:g.37506771A>G	ENSP00000363792:p.Ile1141Val	NA	Q5W025	37		.	.	.	.	.	.	.	.	.	.	a	0.004	-2.272481	0.00257	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.16457	2.34;2.34	2.78	-5.55	0.02536	.	.	.	.	.	T	0.05640	0.0148	N	0.16368	0.405	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.41215	-0.9521	9	0.02654	T	1	.	1.7614	0.02992	0.2387:0.2515:0.3726:0.1371	.	1078	Q9BXX3	AN30A_HUMAN	V	1022;1141	ENSP00000354432:I1022V;ENSP00000363792:I1141V	ENSP00000354432:I1022V	I	+	1	0	ANKRD30A	37546777	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.305000	0.02738	-1.298000	0.02348	-0.435000	0.05868	ATA	ANKRD30A-002	PUTATIVE	NMD_exception|basic	protein_coding	NA	protein_coding	OTTHUMT00000047589.2		+	ENST00000374660.1	Missense_Mutation	SNP	10 : 37506771 - 37506771 G PAAD-TCGA-HZ-A4BH-Tumor-SM-47KKJ	211	34
APBA2	321	broad.mit.edu	37	15	29346316	29346316	+	Missense_Mutation	SNP	G	G	A	rs140795962		TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr15:29346316G>A	ENST00000558402.1	+	5	828	c.229G>A	c.(229-231)Gtg>Atg	p.V77M	APBA2_ENST00000558259.1_Missense_Mutation_p.V77M|APBA2_ENST00000411764.1_Missense_Mutation_p.V77M|APBA2_ENST00000561069.1_Missense_Mutation_p.V77M|APBA2_ENST00000558330.1_Missense_Mutation_p.V77M			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	77					nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		CTCTGACTACGTGAACAACAC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	MET/VAL,MET/VAL	0,4406		0,0,2203	115	117	117		229,229	5.2	1	15	dbSNP_134	117	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	APBA2	NM_001130414.1,NM_005503.3	21,21	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	probably-damaging,probably-damaging	77/738,77/750	29346316	1,13005	2203	4300	6503	SO:0001583	missense			AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053	321	321			579	protein-coding gene	gene with protein product		602712	X11-like, amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)	X11L, MINT2	NA	8955346	Standard	NM_005503	NM_005503	NA	Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.229G>A	15.37:g.29346316G>A	ENSP00000453293:p.Val77Met	NA	O60571	37	CCDS10022.1	.	.	.	.	.	.	.	.	.	.	G	19.85	3.904297	0.72868	0.0	1.16E-4	ENSG00000034053	ENST00000411764;ENST00000219865	T	0.52295	0.67	5.25	5.25	0.73442	.	0.145082	0.46145	D	0.000306	T	0.66356	0.2781	M	0.68952	2.095	0.48632	D	0.999683	D;D;D	0.89917	1.0;0.997;0.997	D;P;P	0.64237	0.923;0.797;0.797	T	0.70099	-0.4965	10	0.87932	D	0	.	17.832	0.88685	0.0:0.0:1.0:0.0	.	77;77;77	Q5XKC0;E9PGI4;Q99767	.;.;APBA2_HUMAN	M	77	ENSP00000409312:V77M	ENSP00000219865:V77M	V	+	1	0	APBA2	27133608	1.000000	0.71417	0.989000	0.46669	0.827000	0.46813	6.796000	0.75145	2.423000	0.82170	0.650000	0.86243	GTG	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251362.3		+	ENST00000558402.1	Missense_Mutation	SNP	15 : 29346316 - 29346316 A PAAD-TCGA-HZ-A4BH-Tumor-SM-47KKJ	984	140
AXIN1	8312	broad.mit.edu	37	16	343713	343713	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr16:343713G>A	ENST00000262320.3	-	8	2332	c.1961C>T	c.(1960-1962)tCg>tTg	p.S654L	AXIN1_ENST00000354866.3_Missense_Mutation_p.S654L	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	654	Interaction with PPP2CA.|Interaction with RNF111.				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				CCTCGTCCCCGAAGACCTTGG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	LEU/SER,LEU/SER	1,4405	2.1+/-5.4	0,1,2202	86	93	91		1961,1961	4.2	0.5	16		91	0,8600		0,0,4300	no	missense,missense	AXIN1	NM_003502.3,NM_181050.2	145,145	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	probably-damaging,probably-damaging	654/863,654/827	343713	1,13005	2203	4300	6503	SO:0001583	missense			AF009674	CCDS10405.1, CCDS10406.1	16p13.3	2012-04-17			ENSG00000103126	ENSG00000103126	8312	8312		Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	903	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 49	603816			NA	9230313	Standard		NM_003502	NA	Approved	PPP1R49	uc002cgp.2	O15169	OTTHUMG00000064930	ENST00000262320.3:c.1961C>T	16.37:g.343713G>A	ENSP00000262320:p.Ser654Leu	NA	Q4TT26|Q4TT27|Q86YA7|Q8WVW6|Q96S28	37	CCDS10405.1	.	.	.	.	.	.	.	.	.	.	G	17.38	3.373947	0.61735	2.27E-4	0.0	ENSG00000103126	ENST00000262320;ENST00000354866	T;T	0.61742	0.08;0.08	4.17	4.17	0.49024	.	0.309451	0.34853	N	0.003624	T	0.65471	0.2694	M	0.63843	1.955	0.47153	D	0.99933	D;D	0.64830	0.994;0.99	P;P	0.52909	0.713;0.52	T	0.69068	-0.5243	10	0.48119	T	0.1	-21.2179	15.6374	0.76966	0.0:0.0:1.0:0.0	.	654;654	O15169-2;O15169	.;AXIN1_HUMAN	L	654	ENSP00000262320:S654L;ENSP00000346935:S654L	ENSP00000262320:S654L	S	-	2	0	AXIN1	283714	1.000000	0.71417	0.509000	0.27700	0.094000	0.18550	4.945000	0.63568	2.185000	0.69588	0.478000	0.44815	TCG	AXIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000139441.3		-	ENST00000262320.3	Missense_Mutation	SNP	16 : 343713 - 343713 A PAAD-TCGA-HZ-A4BH-Tumor-SM-47KKJ	639	47
C1orf173	0	broad.mit.edu	37	1	75036840	75036840	+	Silent	SNP	G	G	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr1:75036840G>A	ENST00000326665.5	-	14	4772	c.4554C>T	c.(4552-4554)agC>agT	p.S1518S	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN		1518										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CTGCAGTCTCGCTTTCTCCTT	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													187	182	184			NA	NA	1		NA											NA				75036840		2203	4300	6503	SO:0001819	synonymous_variant											NA	NA			NA							NA					NA						ENST00000326665.5:c.4554C>T	1.37:g.75036840G>A		NA	Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	37	CCDS30755.1																																																																																			C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000026516.1		-	ENST00000326665.5	Silent	SNP	1 : 75036840 - 75036840 A PAAD-TCGA-HZ-A4BH-Tumor-SM-47KKJ	835	17
CCDC116	164592	broad.mit.edu	37	22	21991276	21991276	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr22:21991276G>T	ENST00000292779.3	+	5	1920	c.1759G>T	c.(1759-1761)Gat>Tat	p.D587Y		NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	0										endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					TGAGGGCCGTGATAAAGCCGA	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	55	57			NA	NA	22		NA											NA				21991276		2203	4300	6503	SO:0001583	missense			BC033499	CCDS13791.1	22q11.21	2006-06-27			ENSG00000161180	ENSG00000161180	164592	164592			26688	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_152612	NM_152612	NA	Approved	FLJ36046	uc002zve.3	Q8IYX3	OTTHUMG00000150821	ENST00000292779.3:c.1759G>T	22.37:g.21991276G>T	ENSP00000292779:p.Asp587Tyr	NA	Q8N9Y9	37	CCDS13791.1	.	.	.	.	.	.	.	.	.	.	G	10.48	1.360852	0.24598	.	.	ENSG00000161180	ENST00000292779	T	0.12255	2.7	3.35	2.3	0.28687	.	3.410210	0.00674	N	0.000657	T	0.25195	0.0612	.	.	.	0.09310	N	1	D	0.60160	0.987	P	0.52217	0.693	T	0.13602	-1.0503	9	0.62326	D	0.03	-3.8567	8.4003	0.32581	0.0:0.2736:0.7264:0.0	.	587	Q8IYX3-2	.	Y	587	ENSP00000292779:D587Y	ENSP00000292779:D587Y	D	+	1	0	CCDC116	20321276	0.019000	0.18553	0.002000	0.10522	0.004000	0.04260	1.152000	0.31663	0.706000	0.31912	0.491000	0.48974	GAT	CCDC116-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320199.1		+	ENST00000292779.3	Missense_Mutation	SNP	22 : 21991276 - 21991276 T PAAD-TCGA-HZ-A4BH-Tumor-SM-47KKJ	472	34
CCDC61	729440	broad.mit.edu	37	19	46506729	46506729	+	Silent	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr19:46506729C>T	ENST00000595358.1	+	3	250	c.201C>T	c.(199-201)ttC>ttT	p.F67F	CCDC61_ENST00000263284.2_Silent_p.F124F|CCDC61_ENST00000536603.1_Silent_p.F67F|CCDC61_ENST00000594087.1_Silent_p.F67F	NM_001267723.1	NP_001254652.1			coiled-coil domain containing 61	NA										endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00221)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.164)		TCAACATCTTCTGTCATATGC	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	48	47			NA	NA	19		NA											NA				46506729		2050	4224	6274	SO:0001819	synonymous_variant				CCDS46120.1, CCDS46120.2	19q13.32	2014-09-04			ENSG00000104983	ENSG00000104983	729440	729440			33629	protein-coding gene	gene with protein product					NA		Standard	NM_001080402	NM_001267723	NA	Approved		uc031rlj.1	Q9Y6R9	OTTHUMG00000182488	ENST00000595358.1:c.201C>T	19.37:g.46506729C>T		NA		37	CCDS46120.2																																																																																			CCDC61-001	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000461689.1		+	ENST00000595358.1	Silent	SNP	19 : 46506729 - 46506729 T PAAD-TCGA-HZ-A4BH-Tumor-SM-47KKJ	216	41
CDKN2A	1029	broad.mit.edu	37	9	21971111	21971111	+	Missense_Mutation	SNP	G	G	C	rs121913385		TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr9:21971111G>C	ENST00000479692.2	-	2	108	c.94C>G	c.(94-96)Cac>Gac	p.H32D	RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_Missense_Mutation_p.A97G|CDKN2A_ENST00000578845.2_Missense_Mutation_p.H32D|CDKN2A_ENST00000498628.2_Missense_Mutation_p.H32D|CDKN2A_ENST00000446177.1_Missense_Mutation_p.H83D|CDKN2A_ENST00000361570.3_Missense_Mutation_p.A138G|CDKN2A_ENST00000579122.1_Missense_Mutation_p.H83D|CDKN2A_ENST00000494262.1_Missense_Mutation_p.H32D|CDKN2A_ENST00000304494.5_Missense_Mutation_p.H83D|CDKN2A_ENST00000497750.1_Missense_Mutation_p.H32D|CDKN2A_ENST00000579755.1_Missense_Mutation_p.A97G|CDKN2A_ENST00000498124.1_Missense_Mutation_p.H83D			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	83			L -> P (in CMM2).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	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)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1403	Whole gene deletion(1316)|Unknown(44)|Substitution - Missense(33)|Deletion - Frameshift(6)|Deletion - In frame(3)|Complex - deletion inframe(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)	GRCh37	CM053801|CM056557	CDKN2A	M	rs121913385						12	15	14			NA	NA	9		NA											NA				21971111		2176	4259	6435	SO:0001583	missense			L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889	1029	1029			1787	protein-coding gene	gene with protein product		600160	cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)	CDKN2, MLM	NA	8152487, 7606716	Standard	NM_000077	NM_058195	NA	Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000479692.2:c.94C>G	9.37:g.21971111G>C	ENSP00000466887:p.His32Asp	NA	D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.6|22.6	4.311283|4.311283	0.81358|0.81358	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000361570;ENST00000530628|ENST00000304494;ENST00000446177	T;T|T;T	0.80393|0.71341	-1.37;-1.3|-0.56;-0.56	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	0.77370|0.77370	0.4120|0.4120	L|L	0.27053|0.27053	0.805|0.805	0.45962|0.45962	D|D	0.998784|0.998784	P|D	0.36144|0.71674	0.539|0.998	B|D	0.37480|0.79784	0.251|0.993	T|T	0.77773|0.77773	-0.2462|-0.2462	10|9	0.54805|0.52906	T|T	0.06|0.07	-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	G|D	138;97|83	ENSP00000355153:A138G;ENSP00000432664:A97G|ENSP00000307101:H83D;ENSP00000394932:H83D	ENSP00000355153:A138G|ENSP00000307101:H83D	A|H	-|-	2|1	0|0	CDKN2A|CDKN2A	21961111|21961111	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.915000|0.915000	0.54546|0.54546	8.665000|8.665000	0.91144|0.91144	2.803000|2.803000	0.96430|0.96430	0.650000|0.650000	0.86243|0.86243	GCA|CAC	CDKN2A-008	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000051922.3		-	ENST00000479692.2	Missense_Mutation	SNP	9 : 21971111 - 21971111 C PAAD-TCGA-HZ-A4BH-Tumor-SM-47KKJ	145	18
CHAT	1103	broad.mit.edu	37	10	50833616	50833616	+	Missense_Mutation	SNP	G	G	A	rs146236256		TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr10:50833616G>A	ENST00000337653.2	+	6	1003	c.850G>A	c.(850-852)Ggc>Agc	p.G284S	CHAT_ENST00000395559.2_Missense_Mutation_p.G166S|CHAT_ENST00000339797.1_Missense_Mutation_p.G166S|CHAT_ENST00000395562.2_Missense_Mutation_p.G202S|CHAT_ENST00000455728.2_Missense_Mutation_p.G166S|CHAT_ENST00000351556.3_Missense_Mutation_p.G166S	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	284					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	CCGGCTCCCCGGCCATACCCA	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY	0,4406		0,0,2203	46	35	38		496,604,496,850,496,496,496	5.2	0.8	10	dbSNP_134	38	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense,missense,missense,missense,missense	CHAT	NM_001142929.1,NM_001142933.1,NM_001142934.1,NM_020549.4,NM_020984.3,NM_020985.3,NM_020986.3	56,56,56,56,56,56,56	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	166/631,202/667,166/631,284/749,166/631,166/631,166/631	50833616	1,13005	2203	4300	6503	SO:0001583	missense			AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	1103	1103	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	choline acetyltransferase		NA	1840566	Standard	NM_020549	NM_020984	NA	Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.850G>A	10.37:g.50833616G>A	ENSP00000337103:p.Gly284Ser	NA	A2BDF4|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	37	CCDS7232.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.486814	0.84854	0.0	1.16E-4	ENSG00000070748	ENST00000339797;ENST00000351556;ENST00000395559;ENST00000337653;ENST00000395562;ENST00000455728	D;D;D;D;D;D	0.92099	-2.97;-2.97;-2.97;-2.97;-2.97;-2.97	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	D	0.96589	0.8887	M	0.87758	2.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.73708	0.975;0.981	D	0.97201	0.9864	10	0.87932	D	0	-30.9801	18.8	0.92013	0.0:0.0:1.0:0.0	.	166;284	F8W8I2;P28329	.;CLAT_HUMAN	S	166;166;166;284;202;166	ENSP00000343486:G166S;ENSP00000345878:G166S;ENSP00000378926:G166S;ENSP00000337103:G284S;ENSP00000378929:G202S;ENSP00000390521:G166S	ENSP00000337103:G284S	G	+	1	0	CHAT	50503622	1.000000	0.71417	0.836000	0.33094	0.196000	0.23810	9.852000	0.99516	2.439000	0.82584	0.411000	0.27672	GGC	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047997.1		+	ENST00000337653.2	Missense_Mutation	SNP	10 : 50833616 - 50833616 A PAAD-TCGA-HZ-A4BH-Tumor-SM-47KKJ	87	15
CHML	1122	broad.mit.edu	37	1	241799053	241799053	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr1:241799053G>A	ENST00000366553.1	-	1	179	c.16C>T	c.(16-18)Ccc>Tcc	p.P6S	OPN3_ENST00000331838.5_Intron|OPN3_ENST00000366554.2_Intron|OPN3_ENST00000469376.1_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	6					intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			AACTCTGTGGGAAGATTGTCC	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	60	59			NA	NA	1		NA											NA				241799053		2202	4300	6502	SO:0001583	missense			X64728	CCDS31073.1	1q43	2013-09-19			ENSG00000203668	ENSG00000203668	1122	1122			1941	protein-coding gene	gene with protein product		118825			NA	7981670	Standard	NM_001821	NM_001821	NA	Approved	REP-2	uc001hzd.3	P26374	OTTHUMG00000039690	ENST00000366553.1:c.16C>T	1.37:g.241799053G>A	ENSP00000355511:p.Pro6Ser	NA	B2RAB9|Q17RE0|Q9H1Y4	37	CCDS31073.1	.	.	.	.	.	.	.	.	.	.	G	14.90	2.674542	0.47781	.	.	ENSG00000203668	ENST00000366553	T	0.59224	0.28	5.14	5.14	0.70334	.	0.000000	0.85682	U	0.000000	T	0.74816	0.3766	.	.	.	0.41587	D	0.988775	D	0.89917	1.0	D	0.97110	1.0	T	0.76405	-0.2971	9	0.59425	D	0.04	-8.0953	14.3144	0.66437	0.0:0.0:1.0:0.0	.	6	P26374	RAE2_HUMAN	S	6	ENSP00000355511:P6S	ENSP00000355511:P6S	P	-	1	0	CHML	239865676	1.000000	0.71417	0.959000	0.39883	0.543000	0.35085	4.210000	0.58500	2.840000	0.97914	0.655000	0.94253	CCC	CHML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000095712.1		-	ENST00000366553.1	Missense_Mutation	SNP	1 : 241799053 - 241799053 A PAAD-TCGA-HZ-A4BH-Tumor-SM-47KKJ	597	37
CKMT2	1160	broad.mit.edu	37	5	80550266	80550266	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr5:80550266G>A	ENST00000424301.2	+	5	641	c.403G>A	c.(403-405)Gac>Aac	p.D135N	CKMT2-AS1_ENST00000512287.1_RNA|CKMT2-AS1_ENST00000511495.1_RNA|CKMT2_ENST00000437669.1_Missense_Mutation_p.D135N|CKMT2-AS1_ENST00000501927.2_RNA|CKMT2-AS1_ENST00000505295.1_RNA|CKMT2-AS1_ENST00000502041.2_RNA|CKMT2_ENST00000254035.4_Missense_Mutation_p.D135N|CKMT2-AS1_ENST00000503483.2_RNA|CKMT2-AS1_ENST00000500148.2_RNA	NM_001825.2	NP_001816.2	P17540	KCRS_HUMAN	creatine kinase, mitochondrial 2 (sarcomeric)	135					creatine metabolic process|muscle contraction	mitochondrial inner membrane	ATP binding|creatine kinase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)	CAACGGCTATGACCCCAGGGT	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													154	139	144			NA	NA	5		NA											NA				80550266		2203	4300	6503	SO:0001583	missense				CCDS4053.1	5q14.1	2013-09-20			ENSG00000131730	ENSG00000131730	1160	1160	2.7.3.2		1996	protein-coding gene	gene with protein product		123295			NA	2324105	Standard	NM_001825	NM_001825	NA	Approved	SMTCK	uc003khd.4	P17540	OTTHUMG00000119013	ENST00000424301.2:c.403G>A	5.37:g.80550266G>A	ENSP00000404203:p.Asp135Asn	NA	Q6ICS8|Q8N1E1	37	CCDS4053.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.760757	0.69763	.	.	ENSG00000131730	ENST00000254035;ENST00000511719;ENST00000437669;ENST00000424301;ENST00000505060	T;T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07;-0.07	5.61	5.61	0.85477	ATP:guanido phosphotransferase, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.64605	0.2613	M	0.69185	2.1	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.61267	-0.7097	10	0.54805	T	0.06	-10.8422	19.6449	0.95773	0.0:0.0:1.0:0.0	.	135	P17540	KCRS_HUMAN	N	135	ENSP00000254035:D135N;ENSP00000423264:D135N;ENSP00000410289:D135N;ENSP00000404203:D135N;ENSP00000427635:D135N	ENSP00000254035:D135N	D	+	1	0	CKMT2	80586022	1.000000	0.71417	1.000000	0.80357	0.634000	0.38068	7.641000	0.83368	2.627000	0.88993	0.563000	0.77884	GAC	CKMT2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000369600.1		+	ENST00000424301.2	Missense_Mutation	SNP	5 : 80550266 - 80550266 A PAAD-TCGA-HZ-A4BH-Tumor-SM-47KKJ	439	31
CLTCL1	8218	broad.mit.edu	37	22	19184149	19184149	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr22:19184149C>T	ENST00000263200.10	-	25	3964	c.3892G>A	c.(3892-3894)Gag>Aag	p.E1298K	CLTCL1_ENST00000353891.5_Missense_Mutation_p.E1298K|CLTCL1_ENST00000442042.2_5'UTR|CLTCL1_ENST00000427926.1_Missense_Mutation_p.E1298K	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1298	Heavy chain arm.|Involved in binding clathrin light chain (By similarity).|Proximal segment.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					AAGATCAGCTCCTCAAAGTAG	0.612		NA	T	?	ALCL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		22	22q11.21	8218	clathrin, heavy polypeptide-like 1		L	0													24	28	27			NA	NA	22		NA											NA				19184149		2139	4248	6387	SO:0001583	missense				CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371	8218	8218			2093	protein-coding gene	gene with protein product		601273	clathrin, heavy polypeptide-like 1	CLTCL	NA	8844170, 15133132	Standard	NM_007098	NM_007098	NA	Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.3892G>A	22.37:g.19184149C>T	ENSP00000445677:p.Glu1298Lys	NA	B7Z7U5|Q14017|Q15808|Q15809	37	CCDS46662.1	.	.	.	.	.	.	.	.	.	.	C	19.95	3.921732	0.73213	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	T;T;T	0.35048	1.33;1.33;1.33	3.5	3.5	0.40072	Tetratricopeptide-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.67126	0.2860	M	0.93106	3.38	0.80722	D	1	P;D;P;P	0.59767	0.528;0.986;0.882;0.745	P;D;P;P	0.70016	0.628;0.967;0.852;0.677	T	0.78370	-0.2230	10	0.87932	D	0	-16.3906	15.1691	0.72854	0.0:1.0:0.0:0.0	.	1298;121;121;1298	P53675-2;B7Z1Z7;B7Z2Y4;P53675	.;.;.;CLH2_HUMAN	K	1298	ENSP00000439662:E1298K;ENSP00000445677:E1298K;ENSP00000441158:E1298K	ENSP00000445677:E1298K	E	-	1	0	CLTCL1	17564149	1.000000	0.71417	1.000000	0.80357	0.222000	0.24845	5.268000	0.65536	1.802000	0.52723	0.491000	0.48974	GAG	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316397.5		-	ENST00000263200.10	Missense_Mutation	SNP	22 : 19184149 - 19184149 T PAAD-TCGA-HZ-A4BH-Tumor-SM-47KKJ	127	9
COL4A2	1284	broad.mit.edu	37	13	111121596	111121596	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr13:111121596G>A	ENST00000360467.5	+	28	2434	c.2128G>A	c.(2128-2130)Gca>Aca	p.A710T		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	710	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CCCAGGCTTCGCAGGAGCTGA	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								T	THR/ALA	0,3814		0,0,1907	70	69	69		2128	-5.1	0.1	13		69	1,8247		0,1,4123	no	missense	COL4A2	NM_001846.2	58	0,1,6030	AA,AG,GG	NA	0.0121,0.0,0.0083	benign	710/1713	111121596	1,12061	1907	4124	6031	SO:0001583	missense			AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871	1284	1284		Collagens	2203	protein-coding gene	gene with protein product	canstatin, collagen type IV alpha 2	120090			NA	2439508, 3025878	Standard	NM_001846	NM_001846	NA	Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.2128G>A	13.37:g.111121596G>A	ENSP00000353654:p.Ala710Thr	NA	Q14052|Q548C3|Q5VZA9|Q66K23	37	CCDS41907.1	.	.	.	.	.	.	.	.	.	.	T	15.62	2.888790	0.52014	0.0	1.21E-4	ENSG00000134871	ENST00000360467;ENST00000257309	D	0.93604	-3.25	5.57	-5.12	0.02893	.	0.651803	0.13327	N	0.396252	D	0.85457	0.5701	L	0.42686	1.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.71048	-0.4705	10	0.30078	T	0.28	.	4.5599	0.12154	0.1987:0.4843:0.1005:0.2165	.	710	P08572	CO4A2_HUMAN	T	710	ENSP00000353654:A710T	ENSP00000257309:A710T	A	+	1	0	COL4A2	109919597	0.000000	0.05858	0.061000	0.19648	0.006000	0.05464	-0.603000	0.05674	-0.842000	0.04195	-1.221000	0.01599	GCA	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045761.2		+	ENST00000360467.5	Missense_Mutation	SNP	13 : 111121596 - 111121596 A PAAD-TCGA-HZ-A4BH-Tumor-SM-47KKJ	100	16
COL5A3	50509	broad.mit.edu	37	19	10097024	10097024	+	Silent	SNP	G	G	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr19:10097024G>A	ENST00000264828.3	-	30	2404	c.2319C>T	c.(2317-2319)ggC>ggT	p.G773G		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	773	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GCCCCTCCTCGCCAGCCTGCC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													19	24	23			NA	NA	19		NA											NA				10097024		2198	4297	6495	SO:0001819	synonymous_variant			AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573	50509	50509		Collagens	14864	protein-coding gene	gene with protein product		120216			NA	10722718	Standard	NM_015719	NM_015719	NA	Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.2319C>T	19.37:g.10097024G>A		NA	Q9NZQ6	37	CCDS12222.1																																																																																			COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000315788.1		-	ENST00000264828.3	Silent	SNP	19 : 10097024 - 10097024 A PAAD-TCGA-HZ-A4BH-Tumor-SM-47KKJ	269	25
DEFB136	613210	broad.mit.edu	37	8	11831528	11831528	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr8:11831528G>A	ENST00000382209.2	-	2	154	c.155C>T	c.(154-156)gCg>gTg	p.A52V		NM_001033018.2	NP_001028190.2	Q30KP8	DB136_HUMAN	defensin, beta 136	52					defense response to bacterium	extracellular region				endometrium(2)|large_intestine(1)|lung(4)	7			STAD - Stomach adenocarcinoma(15;0.033)	COAD - Colon adenocarcinoma(149;0.163)		GTGGCAGAACGCAATCCACCT	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													196	197	197			NA	NA	8		NA											NA				11831528		1984	4165	6149	SO:0001583	missense			DQ012026	CCDS43709.1	8p23.1	2011-07-19			ENSG00000205884	ENSG00000205884	613210	613210		Defensins, beta	34433	protein-coding gene	gene with protein product					NA	16033865	Standard	NM_001033018	NM_001033018	NA	Approved	DEFB137	uc011kxm.2	Q30KP8	OTTHUMG00000158720	ENST00000382209.2:c.155C>T	8.37:g.11831528G>A	ENSP00000371644:p.Ala52Val	NA	Q4QY36	37	CCDS43709.1	.	.	.	.	.	.	.	.	.	.	G	13.05	2.122435	0.37436	.	.	ENSG00000205884	ENST00000382209	T	0.17691	2.26	4.06	2.2	0.27929	.	0.810105	0.10785	N	0.634395	T	0.23727	0.0574	.	.	.	0.09310	N	1	D	0.63046	0.992	P	0.52066	0.689	T	0.12016	-1.0564	9	0.66056	D	0.02	0.1607	5.4674	0.16650	0.1106:0.2046:0.6848:0.0	.	52	Q30KP8	DB136_HUMAN	V	52	ENSP00000371644:A52V	ENSP00000371644:A52V	A	-	2	0	DEFB136	11868937	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.184000	0.16939	0.628000	0.30357	0.555000	0.69702	GCG	DEFB136-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000351889.1		-	ENST00000382209.2	Missense_Mutation	SNP	8 : 11831528 - 11831528 A PAAD-TCGA-HZ-A4BH-Tumor-SM-47KKJ	1269	92
DISC1	27185	broad.mit.edu	37	1	231830151	231830151	+	Missense_Mutation	SNP	C	C	T	rs139420445	byFrequency	TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr1:231830151C>T	ENST00000439617.2	+	2	700	c.647C>T	c.(646-648)tCg>tTg	p.S216L	DISC1_ENST00000539444.1_Missense_Mutation_p.S216L|DISC1_ENST00000537876.1_Missense_Mutation_p.S216L|DISC1_ENST00000317586.4_Missense_Mutation_p.S216L|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000602873.1_Intron|DISC1_ENST00000535983.1_Missense_Mutation_p.S216L|DISC1_ENST00000366633.3_Missense_Mutation_p.S216L|DISC1_ENST00000366636.4_Missense_Mutation_p.S216L|DISC1_ENST00000602281.1_Missense_Mutation_p.S216L|TSNAX-DISC1_ENST00000602962.1_3'UTR	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	216	Interaction with MAP1A.				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding			breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				ATTCGGCTCTCGCTTGGCTCT	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER,,LEU/SER	3,4403	6.2+/-15.9	0,3,2200	49	47	48		647,647,647,647,647,647,647,647,647,647,647,647,647,647,647,647,647,647,647,647,647,,647	3.7	0.1	1	dbSNP_134	48	0,8600		0,0,4300	yes	missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,intron,missense	DISC1	NM_001012957.1,NM_001012958.1,NM_001012959.1,NM_001164537.1,NM_001164538.1,NM_001164539.1,NM_001164540.1,NM_001164541.1,NM_001164542.1,NM_001164544.1,NM_001164545.1,NM_001164546.1,NM_001164547.1,NM_001164548.1,NM_001164549.1,NM_001164550.1,NM_001164551.1,NM_001164552.1,NM_001164553.1,NM_001164554.1,NM_001164555.1,NM_001164556.1,NM_018662.2	145,145,145,145,145,145,145,145,145,145,145,145,145,145,145,145,145,145,145,145,145,,145	0,3,6500	TT,TC,CC	NA	0.0,0.0681,0.0231	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,,probably-damaging	216/833,216/370,216/679,216/887,216/804,216/756,216/733,216/696,216/682,216/663,216/580,216/560,216/560,216/552,216/548,216/430,216/424,216/388,216/388,216/376,216/357,,216/855	231830151	3,13003	2203	4300	6503	SO:0001583	missense			AF222980	CCDS31055.1, CCDS31056.1, CCDS53482.1, CCDS53483.1, CCDS53484.1, CCDS59205.1, CCDS59206.1, CCDS59207.1	1q42.1	2008-02-05			ENSG00000162946	ENSG00000162946	27185	27185			2888	protein-coding gene	gene with protein product		605210			NA	10814723	Standard	NM_018662	NM_001164550	NA	Approved		uc010pxh.2	Q9NRI5	OTTHUMG00000037835	ENST00000439617.2:c.647C>T	1.37:g.231830151C>T	ENSP00000403888:p.Ser216Leu	NA	C9J6D0|O75045|Q5VT44|Q5VT45|Q8IXJ0|Q8IXJ1|Q9BX19|Q9NRI3|Q9NRI4	37		.	.	.	.	.	.	.	.	.	.	C	13.70	2.314498	0.40996	6.81E-4	0.0	ENSG00000162946	ENST00000439617;ENST00000366637;ENST00000317586;ENST00000366636;ENST00000366638;ENST00000532576;ENST00000535983;ENST00000537876;ENST00000366633;ENST00000539444;ENST00000295051;ENST00000535944;ENST00000366632	T;T;T;T;T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52;1.52;1.52;1.52;1.52	4.61	3.69	0.42338	.	0.354936	0.29900	N	0.010911	T	0.49406	0.1555	L	0.59436	1.845	0.28799	N	0.898879	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999	P;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.91635	0.846;0.998;0.998;0.997;0.998;0.999;0.998;0.998;0.998;0.998;0.933;0.997;0.997;0.998;0.998;0.997;0.997;0.998;0.997;0.997;0.933	T	0.45934	-0.9227	10	0.87932	D	0	-6.3648	11.6928	0.51525	0.0:0.8064:0.1936:0.0	.	216;216;216;216;216;216;216;216;216;216;216;216;216;216;216;216;216;216;216;216;216	C4P094;C4P0A3;C4P098;C4P0A1;C4P0A4;A6NLH2;C4P0A5;C4P095;C4P0B6;C4P0C4;C4P091;C4P0D2;C4P0D3;C4P0B1;A7E2W8;Q5T409;C4P0D0;Q9NRI5-2;Q9NRI5;Q9NRI5-3;Q9NRI5-4	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;DISC1_HUMAN;.;.	L	216;216;216;216;216;216;216;216;216;216;216;216;67	ENSP00000403888:S216L;ENSP00000320784:S216L;ENSP00000355596:S216L;ENSP00000443996:S216L;ENSP00000440909:S216L;ENSP00000355593:S216L;ENSP00000440953:S216L;ENSP00000295051:S216L;ENSP00000441193:S216L	ENSP00000295051:S216L	S	+	2	0	DISC1	229896774	0.940000	0.31905	0.056000	0.19401	0.071000	0.16799	2.506000	0.45433	1.127000	0.42034	0.561000	0.74099	TCG	DISC1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000092351.2		+	ENST00000439617.2	Missense_Mutation	SNP	1 : 231830151 - 231830151 T PAAD-TCGA-HZ-A4BH-Tumor-SM-47KKJ	412	30
DYSF	8291	broad.mit.edu	37	2	71741003	71741003	+	Missense_Mutation	SNP	T	T	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr2:71741003T>A	ENST00000258104.3	+	6	892	c.615T>A	c.(613-615)agT>agA	p.S205R	DYSF_ENST00000413539.2_Missense_Mutation_p.S236R|DYSF_ENST00000409762.1_Missense_Mutation_p.S236R|DYSF_ENST00000409366.1_Missense_Mutation_p.S206R|DYSF_ENST00000409744.1_Missense_Mutation_p.S206R|DYSF_ENST00000394120.2_Missense_Mutation_p.S206R|DYSF_ENST00000409582.3_Missense_Mutation_p.S236R|DYSF_ENST00000409651.1_Missense_Mutation_p.S237R|DYSF_ENST00000410020.3_Missense_Mutation_p.S237R|DYSF_ENST00000429174.2_Missense_Mutation_p.S205R|DYSF_ENST00000410041.1_Missense_Mutation_p.S237R	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	205						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GAAAGCGAAGTGCGCCTACAT	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	57	57			NA	NA	2		NA											NA				71741003		2203	4300	6503	SO:0001583	missense			AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636	8291	8291			3097	protein-coding gene	gene with protein product	fer-1-like family member 1	603009	limb girdle muscular dystrophy 2B (autosomal recessive)	LGMD2B	NA	8320700	Standard	NM_003494	NM_003494	NA	Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.615T>A	2.37:g.71741003T>A	ENSP00000258104:p.Ser205Arg	NA	B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	37	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	T	0.964	-0.702308	0.03255	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.68;-1.67;-1.68;-1.67;-1.67;-1.67;-1.68;-1.68	4.79	0.606	0.17559	.	0.256158	0.39475	N	0.001360	T	0.67590	0.2909	N	0.16478	0.41	0.20307	N	0.999918	B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.19445	0.036;0.036;0.036;0.02;0.0;0.0;0.0;0.0;0.036;0.0;0.02;0.02;0.036;0.012	B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.31290	0.127;0.127;0.127;0.088;0.003;0.001;0.003;0.005;0.127;0.002;0.088;0.127;0.127;0.06	T	0.52756	-0.8533	10	0.17832	T	0.49	-14.3939	7.9678	0.30109	0.0:0.5926:0.0:0.4074	.	237;237;206;206;237;206;236;205;236;236;205;205;206;205	O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	R	236;236;236;205;205;237;206;206;206;237;237	ENSP00000407046:S236R;ENSP00000387137:S236R;ENSP00000386547:S236R;ENSP00000398305:S205R;ENSP00000258104:S205R;ENSP00000386683:S237R;ENSP00000377678:S206R;ENSP00000386285:S206R;ENSP00000386512:S206R;ENSP00000386881:S237R;ENSP00000386617:S237R	ENSP00000258104:S205R	S	+	3	2	DYSF	71594511	0.086000	0.21541	0.034000	0.17996	0.020000	0.10135	0.392000	0.20801	-0.114000	0.11936	-0.384000	0.06662	AGT	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251970.3		+	ENST00000258104.3	Missense_Mutation	SNP	2 : 71741003 - 71741003 A PAAD-TCGA-HZ-A4BH-Tumor-SM-47KKJ	344	19
ERCC2	2068	broad.mit.edu	37	19	45860929	45860929	+	Silent	SNP	G	G	A	rs142702501	byFrequency	TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr19:45860929G>A	ENST00000391945.4	-	13	1343	c.1266C>T	c.(1264-1266)gaC>gaT	p.D422D	ERCC2_ENST00000391944.3_Silent_p.D344D	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementation group 2	422					cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		GGGTTCTGTCGTCAAAGGGCT	0.627		NA	Mis, N, F, S			skin basal cell, skin squamous cell, melanoma		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				G	4	0.0018	0.01	NA	2184	NA	1	,	,	NA	3e-04	0.0013	NA	NA	0.0018	0.9879	LOWCOV,EXOME	NA	NA	4e-04	SNP		yes	Rec		Xeroderma pigmentosum (D)	19	19q13.2-q13.3	2068	excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)		E	0								G		22,4384	29.9+/-59.1	0,22,2181	135	126	129		1266	-1.8	1	19	dbSNP_134	129	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ERCC2	NM_000400.3		0,23,6480	AA,AG,GG	NA	0.0116,0.4993,0.1768		422/761	45860929	23,12983	2203	4300	6503	SO:0001819	synonymous_variant	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV		CCDS33049.1, CCDS46112.1	19q13.3	2014-09-17	2014-03-07		ENSG00000104884	ENSG00000104884	2068	2068	3.6.4.12	General transcription factor IIH complex subunits	3434	protein-coding gene	gene with protein product	excision repair cross-complementing rodent repair deficiency, complementation group 2 protein, TFIIH basal transcription factor complex helicase XPB subunit	126340	xeroderma pigmentosum complementary group D, excision repair cross-complementing rodent repair deficiency, complementation group 2	XPD	NA	8413672, 2184031	Standard	NM_000400	NM_000400	NA	Approved	MAG, EM9, MGC102762, MGC126218, MGC126219, TFIIH	uc002pbj.2	P18074	OTTHUMG00000048190	ENST00000391945.4:c.1266C>T	19.37:g.45860929G>A		NA	Q2TB78|Q2YDY2|Q8N721	37	CCDS33049.1																																																																																			ERCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000109626.2		-	ENST00000391945.4	Silent	SNP	19 : 45860929 - 45860929 A PAAD-TCGA-HZ-A4BH-Tumor-SM-47KKJ	666	57
EXO1	9156	broad.mit.edu	37	1	242030320	242030320	+	Silent	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr1:242030320C>T	ENST00000366548.3	+	11	1823	c.1230C>T	c.(1228-1230)ctC>ctT	p.L410L	EXO1_ENST00000518483.1_Silent_p.L410L|EXO1_ENST00000348581.5_Silent_p.L410L	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	410	Interaction with MLH1.		L -> R (abrogates exonuclease activity).		meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			GGTTAAATCTCCCAAGGAAAT	0.408		NA						Editing and processing nucleases						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	63	65			NA	NA	1		NA											NA				242030320		2203	4300	6503	SO:0001819	synonymous_variant			AF042282	CCDS1620.1, CCDS44336.1	1q42-q43	2008-07-18			ENSG00000174371	ENSG00000174371	9156	9156			3511	protein-coding gene	gene with protein product	rad2 nuclease family member, homolog of S. cerevisiae exonuclease 1	606063			NA	9685493, 9788596	Standard	NM_006027	NM_003686	NA	Approved	HEX1, hExoI	uc001hzh.3	Q9UQ84	OTTHUMG00000039965	ENST00000366548.3:c.1230C>T	1.37:g.242030320C>T		NA	O60545|O75214|O75466|Q5T396|Q96IJ1|Q9UG38|Q9UNW0	37	CCDS1620.1																																																																																			EXO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000096405.1		+	ENST00000366548.3	Silent	SNP	1 : 242030320 - 242030320 T PAAD-TCGA-HZ-A4BH-Tumor-SM-47KKJ	301	11
EYS	346007	broad.mit.edu	37	6	66063415	66063415	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr6:66063415G>C	ENST00000393380.2	-	9	1932	c.1395C>G	c.(1393-1395)ttC>ttG	p.F465L	EYS_ENST00000342421.5_Missense_Mutation_p.F465L|EYS_ENST00000503581.1_Missense_Mutation_p.F465L|EYS_ENST00000370616.2_Missense_Mutation_p.F465L|EYS_ENST00000370621.3_Missense_Mutation_p.F465L|EYS_ENST00000370618.3_Missense_Mutation_p.F465L	NM_001142801.1	NP_001136273.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	465					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						AAATACCATGGAAGGTGACTC	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	106	110			NA	NA	6		NA											NA				66063415		2203	4300	6503	SO:0001583	missense				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107	346007	346007			21555	protein-coding gene	gene with protein product		612424	chromosome 6 open reading frame 180, EGF-like-domain, multiple 11, retinitis pigmentosa 25 (autosomal recessive), EGF-like-domain, multiple 10, chromosome 6 open reading frame 178, chromosome 6 open reading frame 179	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179	NA	18836446, 18976725	Standard	XM_294050	NM_001142800	NA	Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000393380.2:c.1395C>G	6.37:g.66063415G>C	ENSP00000377042:p.Phe465Leu	NA	A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	37	CCDS47446.1	.	.	.	.	.	.	.	.	.	.	g	7.119	0.577517	0.13686	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	T;T;T;T;T;T	0.18174	2.23;2.23;2.23;2.23;2.23;2.23	4.14	0.278	0.15673	.	.	.	.	.	T	0.01800	0.0057	N	0.08118	0	0.09310	N	1	B;B;B	0.09022	0.001;0.002;0.001	B;B;B	0.09377	0.004;0.003;0.003	T	0.48875	-0.8996	9	0.11794	T	0.64	.	6.6386	0.22897	0.4292:0.0:0.5708:0.0	.	465;465;465	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	L	465	ENSP00000424243:F465L;ENSP00000359655:F465L;ENSP00000359650:F465L;ENSP00000377042:F465L;ENSP00000341818:F465L;ENSP00000359652:F465L	ENSP00000341818:F465L	F	-	3	2	EYS	66120136	0.000000	0.05858	0.000000	0.03702	0.066000	0.16364	-0.195000	0.09546	-0.034000	0.13713	0.591000	0.81541	TTC	EYS-006	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041109.2		-	ENST00000393380.2	Missense_Mutation	SNP	6 : 66063415 - 66063415 C PAAD-TCGA-HZ-A4BH-Tumor-SM-47KKJ	561	75
FAM154A	158297	broad.mit.edu	37	9	18941744	18941744	+	Silent	SNP	C	C	T	rs112030642		TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr9:18941744C>T	ENST00000380530.1	-	2	563				FAM154A_ENST00000380534.4_Silent_p.T104T|FAM154A_ENST00000542071.1_Intron			Q8IYX7	F154A_HUMAN	family with sequence similarity 154, member A	NA										breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		CTTTCTTATACGTCGTGAGCA	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													196	169	178			NA	NA	9		NA											NA				18941744		2203	4300	6503	SO:0001627	intron_variant			BC033489	CCDS6487.1, CCDS75819.1, CCDS75820.1	9p22.1	2012-03-23	2008-02-21	2008-02-21	ENSG00000155875	ENSG00000155875	158297	158297			28566	protein-coding gene	gene with protein product			chromosome 9 open reading frame 138	C9orf138	NA	12477932	Standard	NM_153707	NM_153707	NA	Approved	MGC35182	uc003zni.2	Q8IYX7	OTTHUMG00000019609	ENST00000380530.1:c.218+9011G>A	9.37:g.18941744C>T		NA	Q5VY58	37																																																																																				FAM154A-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000051812.2		-	ENST00000380530.1	Intron	SNP	9 : 18941744 - 18941744 T PAAD-TCGA-HZ-A4BH-Tumor-SM-47KKJ	435	107
FAM179B	23116	broad.mit.edu	37	14	45431977	45431977	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr14:45431977C>T	ENST00000361462.2	+	1	536	c.353C>T	c.(352-354)gCt>gTt	p.A118V	FAM179B_ENST00000382233.2_Missense_Mutation_p.A118V|FAM179B_ENST00000361577.3_Missense_Mutation_p.A118V			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	118							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						GCTTTGCAAGCTGCTTTGCCG	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	68	65			NA	NA	14		NA											NA				45431977		2201	4298	6499	SO:0001583	missense			AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718	23116	23116			19959	protein-coding gene	gene with protein product			KIAA0423	KIAA0423	NA		Standard	XM_113781	XM_005267451	NA	Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361462.2:c.353C>T	14.37:g.45431977C>T	ENSP00000354917:p.Ala118Val	NA	Q68D66|Q6PG27	37		.	.	.	.	.	.	.	.	.	.	C	20.7	4.038206	0.75617	.	.	ENSG00000198718	ENST00000429476;ENST00000361577;ENST00000361462;ENST00000382233	T;T;T	0.56611	0.45;0.45;0.45	4.88	4.88	0.63580	Armadillo-like helical (1);	0.146929	0.31554	N	0.007443	T	0.58235	0.2108	N	0.24115	0.695	0.31602	N	0.6526	D;D;D;D	0.71674	0.998;0.998;0.998;0.998	D;D;D;D	0.76071	0.987;0.987;0.987;0.987	T	0.64170	-0.6470	10	0.66056	D	0.02	-11.2912	13.4039	0.60900	0.0:1.0:0.0:0.0	.	118;118;118;118	Q9Y4F4-3;G3XAE9;Q9Y4F4;Q9Y4F4-2	.;.;F179B_HUMAN;.	V	118	ENSP00000355045:A118V;ENSP00000354917:A118V;ENSP00000371668:A118V	ENSP00000354917:A118V	A	+	2	0	FAM179B	44501727	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.581000	0.53914	2.526000	0.85167	0.655000	0.94253	GCT	FAM179B-002	NOVEL	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000276792.1		+	ENST00000361462.2	Missense_Mutation	SNP	14 : 45431977 - 45431977 T PAAD-TCGA-HZ-A4BH-Tumor-SM-47KKJ	1010	54
FAM47A	158724	broad.mit.edu	37	X	34150323	34150323	+	Silent	SNP	G	G	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chrX:34150323G>T	ENST00000346193.3	-	1	124	c.73C>A	c.(73-75)Cgg>Agg	p.R25R		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	25										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TTGGAAGGCCGTTTGTTACAG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	49	49			NA	NA	X		NA											NA				34150323		2202	4300	6502	SO:0001819	synonymous_variant			BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448	158724	158724			29962	protein-coding gene	gene with protein product	similar to hypothetical protein FLJ35782				NA	12477932	Standard	NM_203408	NM_203408	NA	Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.73C>A	X.37:g.34150323G>T		NA	A8K8I9|Q8TAA0	37	CCDS43926.1																																																																																			FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056205.1		-	ENST00000346193.3	Silent	SNP	X : 34150323 - 34150323 T PAAD-TCGA-HZ-A4BH-Tumor-SM-47KKJ	247	16
FRMPD2	143162	broad.mit.edu	37	10	49457187	49457187	+	Silent	SNP	G	G	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr10:49457187G>A	ENST00000374201.3	-	3	488	c.186C>T	c.(184-186)gcC>gcT	p.A62A	FRMPD2_ENST00000305531.3_Silent_p.A60A|FRMPD2_ENST00000407470.4_Silent_p.A53A	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	62	KIND.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		CAGAAAGCAGGGCTGACCAGG	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	54	54			NA	NA	10		NA											NA				49457187		2203	4300	6503	SO:0001819	synonymous_variant			AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324	143162	143162			28572	protein-coding gene	gene with protein product		613323	PDZ domain containing 5C	PDZD5C, PDZK5C	NA		Standard	NM_152428	NM_001018071	NA	Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.186C>T	10.37:g.49457187G>A		NA	B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	37	CCDS31195.1																																																																																			FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047923.3		-	ENST00000374201.3	Silent	SNP	10 : 49457187 - 49457187 A PAAD-TCGA-HZ-A4BH-Tumor-SM-47KKJ	241	47
FRMPD3	84443	broad.mit.edu	37	X	106845431	106845431	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chrX:106845431T>C	ENST00000276185.4	+	16	4261	c.4261T>C	c.(4261-4263)Tac>Cac	p.Y1421H				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	1421						cytoskeleton				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						AGCTCCCAATTACAGGAAACT	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	82	83			NA	NA	X		NA											NA				106845431		876	1991	2867	SO:0001583	missense			AB058720	CCDS76006.1	Xq22	2008-02-05			ENSG00000147234	ENSG00000147234	84443	84443			29382	protein-coding gene	gene with protein product					NA	11347906	Standard	XM_042978	NM_032428	NA	Approved	RP5-1070B1.1, KIAA1817		Q5JV73	OTTHUMG00000022165	ENST00000276185.4:c.4261T>C	X.37:g.106845431T>C	ENSP00000276185:p.Tyr1421His	NA	Q96JK8	37		.	.	.	.	.	.	.	.	.	.	t	12.50	1.957249	0.34565	.	.	ENSG00000147234	ENST00000276185;ENST00000439554	T;T	0.22134	1.97;1.98	3.84	3.84	0.44239	.	0.251307	0.34338	N	0.004042	T	0.18923	0.0454	L	0.27053	0.805	0.22457	N	0.999087	.	.	.	.	.	.	T	0.10823	-1.0613	8	0.44086	T	0.13	.	11.1874	0.48664	0.0:0.0:0.0:1.0	.	.	.	.	H	1421;1369	ENSP00000276185:Y1421H;ENSP00000398668:Y1369H	ENSP00000276185:Y1421H	Y	+	1	0	FRMPD3	106732087	1.000000	0.71417	0.976000	0.42696	0.791000	0.44710	4.560000	0.60802	1.418000	0.47098	0.237000	0.17872	TAC	FRMPD3-201	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding			+	ENST00000276185.4	Missense_Mutation	SNP	X : 106845431 - 106845431 C PAAD-TCGA-HZ-A4BH-Tumor-SM-47KKJ	244	91
GABRG2	2566	broad.mit.edu	37	5	161576159	161576159	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr5:161576159G>A	ENST00000356592.3	+	8	1428	c.968G>A	c.(967-969)cGg>cAg	p.R323Q	GABRG2_ENST00000393933.4_Missense_Mutation_p.R228Q|GABRG2_ENST00000414552.2_Missense_Mutation_p.R363Q|GABRG2_ENST00000361925.4_Missense_Mutation_p.R323Q	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	323					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		ACCATTGCCCGGAAATCGCTC	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													231	187	202			NA	NA	5		NA											NA				161576159		2203	4300	6503	SO:0001583	missense				CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327	NA	2566		GABA receptors, Ligand-gated ion channels / GABA(A) receptors	4087	protein-coding gene	gene with protein product	GABA(A) receptor, gamma 2	137164			NA		Standard		NM_198904	NA	Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000356592.3:c.968G>A	5.37:g.161576159G>A	ENSP00000349000:p.Arg323Gln	NA	Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	37	CCDS4359.1	.	.	.	.	.	.	.	.	.	.	G	36	5.909224	0.97093	.	.	ENSG00000113327	ENST00000356592;ENST00000414552;ENST00000361925;ENST00000393933	D;D;D;D	0.86432	-2.12;-2.12;-2.12;-2.12	5.88	5.88	0.94601	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.92789	0.7707	L	0.58925	1.835	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.97110	1.0;0.954;0.969	D	0.92716	0.6187	10	0.87932	D	0	.	20.2381	0.98363	0.0:0.0:1.0:0.0	.	363;323;323	F5HB82;P18507;P18507-2	.;GBRG2_HUMAN;.	Q	323;363;323;228	ENSP00000349000:R323Q;ENSP00000410732:R363Q;ENSP00000354651:R323Q;ENSP00000377510:R228Q	ENSP00000349000:R323Q	R	+	2	0	GABRG2	161508737	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.751000	0.98889	2.779000	0.95612	0.650000	0.86243	CGG	GABRG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252705.2		+	ENST00000356592.3	Missense_Mutation	SNP	5 : 161576159 - 161576159 A PAAD-TCGA-HZ-A4BH-Tumor-SM-47KKJ	501	45
GJB4	127534	broad.mit.edu	37	1	35227279	35227279	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr1:35227279G>A	ENST00000339480.1	+	2	794	c.424G>A	c.(424-426)Gat>Aat	p.D142N	RP1-34M23.5_ENST00000542839.1_RNA	NM_153212.2	NP_694944.1	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4, 30.3kDa	142					cell communication	connexon complex|integral to membrane	gap junction channel activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				GGCCGCCGTGGATGCTGGCTT	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	62	68			NA	NA	1		NA											NA				35227279		2203	4300	6503	SO:0001583	missense				CCDS383.1	1p35-p34	2008-05-14	2007-11-06		ENSG00000189433	ENSG00000189433	127534	127534		Ion channels / Gap junction proteins (connexins)	4286	protein-coding gene	gene with protein product	connexin 30.3	605425	gap junction protein, beta 4 (connexin 30.3), gap junction protein, beta 4		NA		Standard	NM_153212	NM_153212	NA	Approved	CX30.3	uc001bxv.1	Q9NTQ9	OTTHUMG00000004052	ENST00000339480.1:c.424G>A	1.37:g.35227279G>A	ENSP00000345868:p.Asp142Asn	NA	B3KQ82	37	CCDS383.1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.436444	0.62955	.	.	ENSG00000189433	ENST00000339480	D	0.95724	-3.79	5.73	4.82	0.62117	Gap junction protein, cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	D	0.97467	0.9171	M	0.81112	2.525	0.47153	D	0.999335	D	0.76494	0.999	D	0.73708	0.981	D	0.98052	1.0388	10	0.87932	D	0	.	14.4153	0.67145	0.0715:0.0:0.9285:0.0	.	142	Q9NTQ9	CXB4_HUMAN	N	142	ENSP00000345868:D142N	ENSP00000345868:D142N	D	+	1	0	GJB4	34999866	1.000000	0.71417	0.136000	0.22124	0.034000	0.12701	7.966000	0.87956	1.440000	0.47531	0.655000	0.94253	GAT	GJB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000011560.1		+	ENST00000339480.1	Missense_Mutation	SNP	1 : 35227279 - 35227279 A PAAD-TCGA-HZ-A4BH-Tumor-SM-47KKJ	305	48
GPR15	2838	broad.mit.edu	37	3	98251438	98251438	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr3:98251438G>C	ENST00000284311.3	+	1	696	c.561G>C	c.(559-561)aaG>aaC	p.K187N		NM_005290.1	NP_005281.1	P49685	GPR15_HUMAN	G protein-coupled receptor 15	187						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.K187N(1)		endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		CAGAGAAAAAGGCAACTCCAA	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	lung(1)											149	135	140			NA	NA	3		NA											NA				98251438		2203	4300	6503	SO:0001583	missense				CCDS2931.1	3q11.2-q13.1	2014-01-30			ENSG00000154165	ENSG00000154165	2838	2838		GPCR / Class A : Orphans	4469	protein-coding gene	gene with protein product		601166			NA	8838812	Standard		NM_005290	NA	Approved		uc011bgy.3	P49685	OTTHUMG00000160017	ENST00000284311.3:c.561G>C	3.37:g.98251438G>C	ENSP00000284311:p.Lys187Asn	NA	Q3MIL4|Q6ISN6	37	CCDS2931.1	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.809317	0.00606	.	.	ENSG00000154165	ENST00000284311	T	0.39592	1.07	4.74	-5.96	0.02234	GPCR, rhodopsin-like superfamily (1);	1.101080	0.06952	N	0.814708	T	0.25158	0.0611	N	0.24115	0.695	0.09310	N	1	B	0.26147	0.143	B	0.24394	0.053	T	0.22765	-1.0207	10	0.27082	T	0.32	-0.0397	10.5559	0.45117	0.7354:0.1051:0.1594:0.0	.	187	P49685	GPR15_HUMAN	N	187	ENSP00000284311:K187N	ENSP00000284311:K187N	K	+	3	2	GPR15	99734128	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.676000	0.01946	-1.282000	0.02396	-0.982000	0.02568	AAG	GPR15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000358907.1		+	ENST00000284311.3	Missense_Mutation	SNP	3 : 98251438 - 98251438 C PAAD-TCGA-HZ-A4BH-Tumor-SM-47KKJ	723	48
GRAMD1A	57655	broad.mit.edu	37	19	35500042	35500042	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr19:35500042C>T	ENST00000599564.1	+	3	360	c.289C>T	c.(289-291)Cgg>Tgg	p.R97W	GRAMD1A_ENST00000504615.2_5'UTR|GRAMD1A_ENST00000424536.2_Missense_Mutation_p.R10W|GRAMD1A_ENST00000411896.2_Missense_Mutation_p.R10W|GRAMD1A_ENST00000317991.5_Missense_Mutation_p.R10W|GRAMD1A_ENST00000598073.1_3'UTR			Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	10	GRAM.					integral to membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			CCACTCTGGCCGGAGCACGCC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	59	55			NA	NA	19		NA											NA				35500042		1986	4161	6147	SO:0001583	missense			AK074864	CCDS42546.1, CCDS46046.1	19q13.13	2008-02-05	2005-11-02	2005-11-02		ENSG00000089351	57655	57655			29305	protein-coding gene	gene with protein product			KIAA1533	KIAA1533	NA	10819331	Standard	NM_020895	NM_020895	NA	Approved	FLJ90346	uc010xse.1	Q96CP6		ENST00000599564.1:c.289C>T	19.37:g.35500042C>T	ENSP00000470220:p.Arg97Trp	NA	A6NKY7|Q8NC77|Q9P1Z5	37		.	.	.	.	.	.	.	.	.	.	c	15.81	2.944466	0.53079	.	.	ENSG00000089351	ENST00000453966;ENST00000317991;ENST00000411896	T;T	0.34859	1.36;1.34	4.83	3.79	0.43588	.	0.000000	0.64402	D	0.000002	T	0.43122	0.1233	N	0.19112	0.55	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79108	0.977;0.948;0.977;0.992	T	0.45934	-0.9227	10	0.87932	D	0	.	12.3312	0.55041	0.1697:0.8302:0.0:0.0	.	10;10;10;97	Q96CP6-3;Q96CP6;Q96CP6-2;F5GZ02	.;GRM1A_HUMAN;.;.	W	97;10;10	ENSP00000441032:R10W;ENSP00000439267:R10W	ENSP00000441032:R10W	R	+	1	2	GRAMD1A	40191882	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	2.429000	0.44758	1.250000	0.43966	0.561000	0.74099	CGG	GRAMD1A-002	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000461555.1		+	ENST00000599564.1	Missense_Mutation	SNP	19 : 35500042 - 35500042 T PAAD-TCGA-HZ-A4BH-Tumor-SM-47KKJ	835	56
GRID1	2894	broad.mit.edu	37	10	87362370	87362370	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr10:87362370G>A	ENST00000327946.7	-	16	2775	c.2690C>T	c.(2689-2691)tCg>tTg	p.S897L	GRID1_ENST00000552278.2_5'UTR|GRID1_ENST00000536331.1_Missense_Mutation_p.S468L	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	897						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	GAGCTCAATCGACGCTGGGGA	0.592		NA								Multiple Myeloma(13;0.14)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	38	40			NA	NA	10		NA											NA				87362370		2203	4300	6503	SO:0001583	missense			AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771	2894	2894		Ligand-gated ion channels / Glutamate receptors, ionotropic, Glutamate receptors	4575	protein-coding gene	gene with protein product		610659			NA		Standard	XM_043613	NM_017551	NA	Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.2690C>T	10.37:g.87362370G>A	ENSP00000330148:p.Ser897Leu	NA	B3KXD5|Q8IXT3	37	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.708583	0.68615	.	.	ENSG00000182771	ENST00000327946;ENST00000536331	T;T	0.16457	2.59;2.34	5.74	4.84	0.62591	.	0.047518	0.85682	D	0.000000	T	0.34424	0.0897	L	0.55481	1.735	0.58432	D	0.999998	D	0.64830	0.994	D	0.64042	0.921	T	0.05971	-1.0853	10	0.62326	D	0.03	.	13.749	0.62894	0.0737:0.0:0.9263:0.0	.	897	Q9ULK0	GRID1_HUMAN	L	897;468	ENSP00000330148:S897L;ENSP00000444455:S468L	ENSP00000330148:S897L	S	-	2	0	GRID1	87352350	1.000000	0.71417	0.619000	0.29118	0.608000	0.37181	9.869000	0.99810	1.430000	0.47334	-0.218000	0.12543	TCG	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049148.3		-	ENST00000327946.7	Missense_Mutation	SNP	10 : 87362370 - 87362370 A PAAD-TCGA-HZ-A4BH-Tumor-SM-47KKJ	156	31
HEATR3	55027	broad.mit.edu	37	16	50112735	50112735	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr16:50112735G>A	ENST00000299192.7	+	7	1038	c.847G>A	c.(847-849)Gtt>Att	p.V283I	HEATR3_ENST00000285767.4_Missense_Mutation_p.V197I	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	283							binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						CTTATCTGAAGTTTTGGGAAT	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	76	76			NA	NA	16		NA											NA				50112735		2198	4300	6498	SO:0001583	missense			BC018730	CCDS10739.1	16q12.1	2008-02-05			ENSG00000155393	ENSG00000155393	55027	55027			26087	protein-coding gene	gene with protein product		614951			NA	12477932	Standard	NM_182922	XM_005256013	NA	Approved	FLJ20718	uc002efw.3	Q7Z4Q2	OTTHUMG00000133174	ENST00000299192.7:c.847G>A	16.37:g.50112735G>A	ENSP00000299192:p.Val283Ile	NA	A8K1N4|Q8N525|Q8WV56|Q96CC9|Q9NWN7	37	CCDS10739.1	.	.	.	.	.	.	.	.	.	.	G	19.93	3.918750	0.73098	.	.	ENSG00000155393	ENST00000285767;ENST00000299192	T;T	0.31769	1.48;1.48	5.74	4.79	0.61399	Armadillo-like helical (1);Armadillo-type fold (1);	0.492308	0.24010	N	0.042387	T	0.34919	0.0914	M	0.64997	1.995	0.25653	N	0.986075	P;P	0.50272	0.933;0.501	P;B	0.47251	0.542;0.039	T	0.20140	-1.0284	10	0.29301	T	0.29	.	9.7486	0.40462	0.0742:0.0:0.7542:0.1716	.	197;283	B7WNW7;Q7Z4Q2	.;HEAT3_HUMAN	I	197;283	ENSP00000285767:V197I;ENSP00000299192:V283I	ENSP00000285767:V197I	V	+	1	0	HEATR3	48670236	0.926000	0.31397	0.779000	0.31741	0.993000	0.82548	1.464000	0.35288	1.569000	0.49696	0.637000	0.83480	GTT	HEATR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256880.2		+	ENST00000299192.7	Missense_Mutation	SNP	16 : 50112735 - 50112735 A PAAD-TCGA-HZ-A4BH-Tumor-SM-47KKJ	350	8
IL1RN	3557	broad.mit.edu	37	2	113885304	113885304	+	Missense_Mutation	SNP	A	A	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr2:113885304A>T	ENST00000361779.3	+	3	346	c.1A>T	c.(1-3)Atg>Ttg	p.M1L	IL1RN_ENST00000409930.3_Missense_Mutation_p.M35L|IL1RN_ENST00000259206.5_Missense_Mutation_p.M38L|IL1RN_ENST00000354115.2_Missense_Mutation_p.M17L|IL1RN_ENST00000409052.1_Start_Codon_SNP_p.M1L	NM_173843.2	NP_776215.1	P18510	IL1RA_HUMAN	interleukin 1 receptor antagonist	35					immune response|inflammatory response|response to glucocorticoid stimulus	centrosome|extracellular space|nucleus|plasma membrane	cytokine activity|interleukin-1 receptor antagonist activity			breast(1)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	10					Anakinra(DB00026)	ATCCAGCAAGATGCAAGCCTT	0.562		NA							Lichen Sclerosis et Atrophicus, Familial Clustering of					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	67	69			NA	NA	2		NA											NA				113885304		2203	4300	6503	SO:0001582	initiator_codon_variant	Familial Cancer Database	Lichen Sclerosis, Familial	M55646	CCDS2113.1, CCDS2114.1, CCDS2115.1, CCDS46396.1	2q14.2	2014-09-17			ENSG00000136689	ENSG00000136689	3557	3557		Interleukins and interleukin receptors, Endogenous ligands	6000	protein-coding gene	gene with protein product	interleukin-1 receptor antagonist protein, intracellular interleukin-1 receptor antagonist	147679			NA	1386337, 8432529	Standard	NM_173841	NM_000577	NA	Approved	IL1RA, ICIL-1RA, IL1F3, IRAP, IL-1RN, MGC10430	uc002tjb.3	P18510	OTTHUMG00000131341	ENST00000361779.3:c.1A>T	2.37:g.113885304A>T	ENSP00000354816:p.Met1Leu	NA	A8K4G1|Q14628|Q7RTZ4|Q96GD6|Q9UPC0	37	CCDS2115.1	.	.	.	.	.	.	.	.	.	.	A	15.59	2.878314	0.51801	.	.	ENSG00000136689	ENST00000409052;ENST00000361779;ENST00000259206;ENST00000354115;ENST00000409930	T;T;T;T;T	0.35973	1.28;1.28;3.02;3.02;3.02	5.24	5.24	0.73138	.	0.361602	0.37809	N	0.001934	T	0.34919	0.0914	M	0.63428	1.95	0.33072	D	0.535518	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.42649	-0.9439	10	0.27785	T	0.31	-24.0838	11.8146	0.52202	1.0:0.0:0.0:0.0	.	35;17;38	P18510;P18510-2;Q53SC2	IL1RA_HUMAN;.;.	L	1;1;38;17;35	ENSP00000387210:M1L;ENSP00000354816:M1L;ENSP00000259206:M38L;ENSP00000329072:M17L;ENSP00000387173:M35L	ENSP00000259206:M38L	M	+	1	0	IL1RN	113601775	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	4.129000	0.57957	2.104000	0.64026	0.533000	0.62120	ATG	IL1RN-003	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254118.1	Missense_Mutation	+	ENST00000361779.3	Start_Codon_SNP	SNP	2 : 113885304 - 113885304 T PAAD-TCGA-HZ-A4BH-Tumor-SM-47KKJ	376	42
KCNJ4	3761	broad.mit.edu	37	22	38823340	38823340	+	Silent	SNP	G	G	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr22:38823340G>A	ENST00000303592.3	-	2	1056	c.798C>T	c.(796-798)gaC>gaT	p.D266D	RP3-434P1.6_ENST00000433230.1_RNA	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	266					synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					GGCTGTCCTCGTCGATCTCGT	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	77	83			NA	NA	22		NA											NA				38823340		2203	4300	6503	SO:0001819	synonymous_variant			U07364	CCDS13971.1	22q13.1	2011-07-05			ENSG00000168135	ENSG00000168135	3761	3761		Potassium channels, Voltage-gated ion channels / Potassium channels, Inwardly rectifying	6265	protein-coding gene	gene with protein product		600504			NA	8016146, 16382105	Standard	NM_004981	NM_152868	NA	Approved	Kir2.3, HIR, HRK1, hIRK2, IRK3	uc003avs.1	P48050	OTTHUMG00000151131	ENST00000303592.3:c.798C>T	22.37:g.38823340G>A		NA	Q14D44	37	CCDS13971.1																																																																																			KCNJ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000321447.1		-	ENST00000303592.3	Silent	SNP	22 : 38823340 - 38823340 A PAAD-TCGA-HZ-A4BH-Tumor-SM-47KKJ	286	23
KCNN1	3780	broad.mit.edu	37	19	18099263	18099263	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr19:18099263C>T	ENST00000222249.9	+	7	1418	c.1099C>T	c.(1099-1101)Cgg>Tgg	p.R367W		NM_002248.3	NP_002239.2	Q92952	KCNN1_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1	NA					synaptic transmission	voltage-gated potassium channel complex	calmodulin binding|small conductance calcium-activated potassium channel activity			endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	8						TGTGGTGGCTCGGAAGCTGGA	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	45	44			NA	NA	19		NA											NA				18099263		2203	4296	6499	SO:0001583	missense			U69883	CCDS67611.1	19p13.1	2012-07-05				ENSG00000105642	3780	3780		Potassium channels, Voltage-gated ion channels / Potassium channels, calcium-activated	6290	protein-coding gene	gene with protein product		602982			NA	8781233, 10516439, 16382103	Standard	NM_002248	NM_002248	NA	Approved	KCa2.1, hSK1	uc002nht.3	Q92952		ENST00000222249.9:c.1099C>T	19.37:g.18099263C>T	ENSP00000476519:p.Arg367Trp	NA	Q5KR10|Q6DJU4	37		.	.	.	.	.	.	.	.	.	.	C	19.27	3.795298	0.70452	.	.	ENSG00000105642	ENST00000222249;ENST00000536713	.	.	.	4.61	4.61	0.57282	Ion transport 2 (1);Calmodulin-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.79052	0.4381	M	0.86028	2.79	0.51482	D	0.999927	D	0.89917	1.0	D	0.85130	0.997	T	0.81927	-0.0709	9	0.87932	D	0	-29.1479	10.2569	0.43403	0.1978:0.8022:0.0:0.0	.	367	Q92952	KCNN1_HUMAN	W	384;367	.	ENSP00000222249:R384W	R	+	1	2	KCNN1	17960263	0.920000	0.31207	0.996000	0.52242	0.910000	0.53928	0.876000	0.28092	2.116000	0.64780	0.561000	0.74099	CGG	KCNN1-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000471896.2		+	ENST00000222249.9	Missense_Mutation	SNP	19 : 18099263 - 18099263 T PAAD-TCGA-HZ-A4BH-Tumor-SM-47KKJ	164	41
KDM5B	10765	broad.mit.edu	37	1	202714993	202714993	+	Silent	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr1:202714993C>T	ENST00000367265.3	-	16	3480	c.2316G>A	c.(2314-2316)aaG>aaA	p.K772K	KDM5B_ENST00000367264.2_Silent_p.K808K	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	772					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						TACTTTTCTTCTTGTTGATCT	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													163	150	155			NA	NA	1		NA											NA				202714993		2203	4300	6503	SO:0001819	synonymous_variant			AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139	10765	10765		Chromatin-modifying enzymes / K-demethylases, Zinc fingers, PHD-type	18039	protein-coding gene	gene with protein product	cancer/testis antigen 31, protein phosphatase 1, regulatory subunit 98	605393	Jumonji, AT rich interactive domain 1B (RBP2-like), jumonji, AT rich interactive domain 1B	JARID1B	NA	11483573, 11478881	Standard	NM_006618	NM_006618	NA	Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.2316G>A	1.37:g.202714993C>T		NA	O95811|Q15752|Q9Y3Q5	37	CCDS30974.1																																																																																			KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000099184.2		-	ENST00000367265.3	Silent	SNP	1 : 202714993 - 202714993 T PAAD-TCGA-HZ-A4BH-Tumor-SM-47KKJ	994	78
KIAA1551	55196	broad.mit.edu	37	12	32135653	32135653	+	Silent	SNP	T	T	C			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr12:32135653T>C	ENST00000312561.4	+	4	2178	c.1764T>C	c.(1762-1764)ctT>ctC	p.L588L	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639			KIAA1551	NA											NA						TCGCTTTGCTTTCACAGGCAC	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	38	38			NA	NA	12		NA											NA				32135653		2203	4299	6502	SO:0001819	synonymous_variant			AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718	55196	55196			25559	protein-coding gene	gene with protein product			chromosome 12 open reading frame 35	C12orf35	NA	10997877	Standard	NM_018169	NM_018169	NA	Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.1764T>C	12.37:g.32135653T>C		NA		37	CCDS8725.2																																																																																			KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250307.2		+	ENST00000312561.4	Silent	SNP	12 : 32135653 - 32135653 C PAAD-TCGA-HZ-A4BH-Tumor-SM-47KKJ	575	87
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	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)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	15813	Substitution - Missense(15812)|Deletion - Frameshift(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)											91	81	85			NA	NA	12		NA											NA				25398284		2203	4300	6503	SO:0001583	missense	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	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703	3845	3845			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	NA		Standard	NM_033360	NM_004985	NA	Approved	KRAS1	uc001rgp.1	P01116		ENST00000311936.3:c.35G>A	12.37:g.25398284C>T	ENSP00000308495:p.Gly12Asp	NA	A8K8Z5|B0LPF9|P01118|Q96D10	37	CCDS8702.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	KRAS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412230.1		-	ENST00000311936.3	Missense_Mutation	SNP	12 : 25398284 - 25398284 T PAAD-TCGA-HZ-A4BH-Tumor-SM-47KKJ	133	23
MAP2K7	5609	broad.mit.edu	37	19	7976364	7976364	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr19:7976364C>T	ENST00000397981.3	+	9	1103	c.1001C>T	c.(1000-1002)aCg>aTg	p.T334M	MAP2K7_ENST00000397983.3_Missense_Mutation_p.T343M|MAP2K7_ENST00000397979.3_Missense_Mutation_p.T327M|MAP2K7_ENST00000545011.1_Missense_Mutation_p.T369M			O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	327	Protein kinase.				activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19					Etoposide(DB00773)	AACTGCAAGACGGACTTTGAG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	46	45			NA	NA	19		NA											NA				7976364		1918	4118	6036	SO:0001583	missense			AF006689	CCDS42491.1, CCDS74277.1, CCDS74278.1	19p13.3-p13.2	2011-06-09			ENSG00000076984	ENSG00000076984	5609	5609	2.7.12.2	Mitogen-activated protein kinase cascade / Kinase kinases	6847	protein-coding gene	gene with protein product		603014		PRKMK7	NA	9312068	Standard		XM_005272489	NA	Approved	MKK7, Jnkk2	uc002mit.3	O14733	OTTHUMG00000137368	ENST00000397981.3:c.1001C>T	19.37:g.7976364C>T	ENSP00000381068:p.Thr334Met	NA	B2R9S5|D6W659|O14648|O14816|O60452|O60453|Q1PG43|Q8IY10	37		.	.	.	.	.	.	.	.	.	.	C	27.3	4.819928	0.90873	.	.	ENSG00000076984	ENST00000397981;ENST00000397983;ENST00000545011;ENST00000425613;ENST00000397979	T;T;T;T	0.15139	2.45;2.45;2.45;2.45	4.85	4.85	0.62838	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.32164	0.0820	L	0.53780	1.695	0.80722	D	1	D;D	0.61697	0.978;0.99	P;P	0.56751	0.507;0.805	T	0.02156	-1.1204	10	0.87932	D	0	-9.4511	15.8291	0.78739	0.0:1.0:0.0:0.0	.	334;327	O14733-4;O14733	.;MP2K7_HUMAN	M	334;343;369;343;327	ENSP00000381068:T334M;ENSP00000381070:T343M;ENSP00000443946:T369M;ENSP00000381066:T327M	ENSP00000381066:T327M	T	+	2	0	MAP2K7	7882364	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	3.697000	0.54764	2.675000	0.91044	0.655000	0.94253	ACG	MAP2K7-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000267979.1		+	ENST00000397981.3	Missense_Mutation	SNP	19 : 7976364 - 7976364 T PAAD-TCGA-HZ-A4BH-Tumor-SM-47KKJ	230	60
MSRB3	253827	broad.mit.edu	37	12	65857005	65857005	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr12:65857005C>T	ENST00000308259.5	+	7	735	c.461C>T	c.(460-462)tCg>tTg	p.S154L	MSRB3_ENST00000355192.3_Missense_Mutation_p.S161L|MSRB3_ENST00000535664.1_Missense_Mutation_p.S154L	NM_001031679.2|NM_001193460.1	NP_001026849.1|NP_001180389.1	Q8IXL7	MSRB3_HUMAN	methionine sulfoxide reductase B3	161					protein repair	endoplasmic reticulum|mitochondrion	peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|zinc ion binding	p.S161L(1)|p.S154L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.131)		TGCATAAATTCGGCTGCCTTG	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	large_intestine(2)											147	130	136			NA	NA	12		NA											NA				65857005		2203	4300	6503	SO:0001583	missense			BX640871	CCDS8973.1, CCDS31853.1	12q14.3	2011-11-29			ENSG00000174099	ENSG00000174099	253827	253827			27375	protein-coding gene	gene with protein product		613719	deafness, autosomal recessive 74	DFNB74	NA	21185009	Standard	NM_198080	NM_198080	NA	Approved	FLJ36866, DKFZp686C1178	uc021qzy.1	Q8IXL7	OTTHUMG00000168866	ENST00000308259.5:c.461C>T	12.37:g.65857005C>T	ENSP00000312274:p.Ser154Leu	NA	B4DR19|B7ZAQ0|Q6UXS2	37	CCDS31853.1	.	.	.	.	.	.	.	.	.	.	C	34	5.393034	0.96009	.	.	ENSG00000174099	ENST00000355192;ENST00000308259;ENST00000535664;ENST00000535239	D;D;D;D	0.82893	-1.66;-1.66;-1.66;-1.66	5.76	5.76	0.90799	Mss4-like (1);Methionine sulphoxide reductase B (4);	0.000000	0.85682	D	0.000000	D	0.95310	0.8478	H	0.98629	4.285	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.96448	0.9332	9	.	.	.	-2.9871	20.3325	0.98724	0.0:1.0:0.0:0.0	.	161;154	Q8IXL7;Q8IXL7-2	MSRB3_HUMAN;.	L	161;154;154;154	ENSP00000347324:S161L;ENSP00000312274:S154L;ENSP00000441650:S154L;ENSP00000445843:S154L	.	S	+	2	0	MSRB3	64143272	1.000000	0.71417	0.196000	0.23383	0.071000	0.16799	6.792000	0.75125	2.890000	0.99128	0.655000	0.94253	TCG	MSRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401422.1		+	ENST00000308259.5	Missense_Mutation	SNP	12 : 65857005 - 65857005 T PAAD-TCGA-HZ-A4BH-Tumor-SM-47KKJ	649	92
MTG2	26164	broad.mit.edu	37	20	60774235	60774235	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr20:60774235G>A	ENST00000370823.3	+	6	766	c.748G>A	c.(748-750)Gcc>Acc	p.A250T	MTG2_ENST00000536470.1_Missense_Mutation_p.A22T|MTG2_ENST00000436421.2_Intron	NM_015666.3	NP_056481.1			mitochondrial ribosome-associated GTPase 2	NA											NA						CGCCAGACCCGCCGTGGCTTC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	51	51			NA	NA	20		NA											NA				60774235		2203	4300	6503	SO:0001583	missense			AK001603	CCDS13492.1	20q13.33	2013-05-24	2013-05-24	2013-05-24	ENSG00000101181	ENSG00000101181	26164	26164			16239	protein-coding gene	gene with protein product		610919	GTP-binding protein 5 (putative), GTP binding protein 5 (putative)	GTPBP5	NA	17054726, 23396448	Standard	NM_015666	NM_015666	NA	Approved	FLJ10741, dJ1005F21.2, ObgH1		Q9H4K7	OTTHUMG00000032897	ENST00000370823.3:c.748G>A	20.37:g.60774235G>A	ENSP00000359859:p.Ala250Thr	NA		37	CCDS13492.1	.	.	.	.	.	.	.	.	.	.	G	11.63	1.697382	0.30142	.	.	ENSG00000101181	ENST00000536470;ENST00000370823	T;T	0.17054	2.3;2.3	5.67	2.67	0.31697	Small GTP-binding protein domain (1);GTP1/OBG (1);GTP-binding domain, HSR1-related (1);	0.094504	0.64402	N	0.000001	T	0.13543	0.0328	L	0.28458	0.855	0.58432	D	0.999997	B	0.20780	0.048	B	0.19391	0.025	T	0.06250	-1.0837	10	0.66056	D	0.02	-12.2409	12.1781	0.54196	0.1454:0.0:0.8546:0.0	.	250	Q9H4K7	GTPB5_HUMAN	T	22;250	ENSP00000445056:A22T;ENSP00000359859:A250T	ENSP00000359859:A250T	A	+	1	0	GTPBP5	60207630	1.000000	0.71417	0.011000	0.14972	0.025000	0.11179	4.508000	0.60441	0.339000	0.23719	0.561000	0.74099	GCC	MTG2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079989.1		+	ENST00000370823.3	Missense_Mutation	SNP	20 : 60774235 - 60774235 A PAAD-TCGA-HZ-A4BH-Tumor-SM-47KKJ	332	79
MYLK	4638	broad.mit.edu	37	3	123383037	123383037	+	Silent	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr3:123383037C>T	ENST00000360772.3	-	24	4278	c.3900G>A	c.(3898-3900)gcG>gcA	p.A1300A	MYLK_ENST00000346322.5_Silent_p.A1231A|MYLK_ENST00000360304.3_Silent_p.A1300A|MYLK_ENST00000359169.1_Silent_p.A1300A|MYLK_ENST00000354792.5_Silent_p.A100A|MYLK_ENST00000475616.1_Silent_p.A1300A			Q15746	MYLK_HUMAN	myosin light chain kinase	1300	Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Ig-like C2-type 8.			A -> G (in Ref. 1; CAA59685).	aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GCTCCTGGCGCGCGGCCAGGA	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													136	130	132			NA	NA	3		NA											NA				123383037		2203	4300	6503	SO:0001819	synonymous_variant			X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	4638	4638	2.7.11.18	Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	7590	protein-coding gene	gene with protein product	smooth muscle myosin light chain kinase	600922	myosin, light polypeptide kinase		NA	8575746	Standard	NM_053025	NM_053026	NA	Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000360772.3:c.3900G>A	3.37:g.123383037C>T		NA	O95796|O95797|O95798|O95799|Q14844|Q16794|Q5MY99|Q5MYA0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UIT9	37	CCDS3023.1																																																																																			MYLK-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000280599.2		-	ENST00000360772.3	Silent	SNP	3 : 123383037 - 123383037 T PAAD-TCGA-HZ-A4BH-Tumor-SM-47KKJ	1310	108
MYO1G	64005	broad.mit.edu	37	7	45003667	45003667	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr7:45003667C>T	ENST00000258787.7	-	20	2862	c.2726G>A	c.(2725-2727)cGg>cAg	p.R909Q		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	909						myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						GGGCACGGCCCGCATCACCCG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	GLN/ARG	1,4393		0,1,2196	62	55	57		2726	4.2	1	7		57	0,8600		0,0,4300	no	missense	MYO1G	NM_033054.2	43	0,1,6496	TT,TC,CC	NA	0.0,0.0228,0.0077	possibly-damaging	909/1019	45003667	1,12993	2197	4300	6497	SO:0001583	missense			AF380932	CCDS34629.1	7p13-p11.2	2011-09-27			ENSG00000136286	ENSG00000136286	64005	64005		Myosins / Myosin superfamily : Class I	13880	protein-coding gene	gene with protein product	minor histocompatibility antigen HA-2	600642			NA		Standard		NM_033054	NA	Approved	HA-2	uc003tmh.2	B0I1T2	OTTHUMG00000155821	ENST00000258787.7:c.2726G>A	7.37:g.45003667C>T	ENSP00000258787:p.Arg909Gln	NA	Q8TEI9|Q8TES2|Q96BE2|Q96RI5|Q96RI6	37	CCDS34629.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.962493	0.74016	2.28E-4	0.0	ENSG00000136286	ENST00000258787	T	0.39056	1.1	4.24	4.24	0.50183	Myosin tail 2 (1);	0.000000	0.33792	N	0.004548	T	0.32194	0.0821	M	0.62016	1.91	0.35794	D	0.82262	P	0.38677	0.642	B	0.26416	0.069	T	0.41875	-0.9484	10	0.15952	T	0.53	.	12.0407	0.53452	0.0:0.8248:0.1752:0.0	.	909	B0I1T2	MYO1G_HUMAN	Q	909	ENSP00000258787:R909Q	ENSP00000258787:R909Q	R	-	2	0	MYO1G	44970192	0.998000	0.40836	0.994000	0.49952	0.695000	0.40330	3.509000	0.53386	2.286000	0.76751	0.655000	0.94253	CGG	MYO1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000341832.2		-	ENST00000258787.7	Missense_Mutation	SNP	7 : 45003667 - 45003667 T PAAD-TCGA-HZ-A4BH-Tumor-SM-47KKJ	55	9
NBEA	26960	broad.mit.edu	37	13	35735929	35735929	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr13:35735929C>T	ENST00000379939.2	+	23	4065	c.3904C>T	c.(3904-3906)Cga>Tga	p.R1302*	NBEA_ENST00000540320.1_Nonsense_Mutation_p.R1302*|NBEA_ENST00000310336.4_Nonsense_Mutation_p.R1302*|NBEA_ENST00000400445.3_Nonsense_Mutation_p.R1302*			Q8NFP9	NBEA_HUMAN	neurobeachin	1302						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CCGAGATCTCCGAGTTGATTT	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	97	99			NA	NA	13		NA											NA				35735929		1922	4124	6046	SO:0001587	stop_gained			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915	26960	26960		A-kinase anchor proteins, WD repeat domain containing	7648	protein-coding gene	gene with protein product		604889			NA	10501977	Standard	NM_015678	NM_015678	NA	Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000379939.2:c.3904C>T	13.37:g.35735929C>T	ENSP00000369271:p.Arg1302*	NA	Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	37		.	.	.	.	.	.	.	.	.	.	C	48	13.944603	0.99771	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336	.	.	.	5.04	1.83	0.25207	.	0.156994	0.42548	D	0.000689	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.3905	0.66975	0.4506:0.5494:0.0:0.0	.	.	.	.	X	1302	.	ENSP00000308534:R1302X	R	+	1	2	NBEA	34633929	0.982000	0.34865	0.995000	0.50966	0.984000	0.73092	0.644000	0.24766	0.481000	0.27557	0.591000	0.81541	CGA	NBEA-001	KNOWN	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000044460.1		+	ENST00000379939.2	Nonsense_Mutation	SNP	13 : 35735929 - 35735929 T PAAD-TCGA-HZ-A4BH-Tumor-SM-47KKJ	151	9
NBEAL1	65065	broad.mit.edu	37	2	204009874	204009874	+	Silent	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr2:204009874C>T	ENST00000449802.1	+	32	5541	c.5208C>T	c.(5206-5208)ctC>ctT	p.L1736L		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1736							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						AAAGCAAGCTCAAATTTCAGG	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	94	96			NA	NA	2		NA											NA				204009874		1817	4072	5889	SO:0001819	synonymous_variant			AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426	65065	65065		WD repeat domain containing	20681	protein-coding gene	gene with protein product		609816	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17, amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16	ALS2CR17, ALS2CR16	NA	15193433	Standard		NM_001114132	NA	Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.5208C>T	2.37:g.204009874C>T		NA	A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	37	CCDS46495.1																																																																																			NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000333982.4		+	ENST00000449802.1	Silent	SNP	2 : 204009874 - 204009874 T PAAD-TCGA-HZ-A4BH-Tumor-SM-47KKJ	437	24
NPAP1	23742	broad.mit.edu	37	15	24921804	24921804	+	Missense_Mutation	SNP	G	G	A	rs138010778	byFrequency	TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr15:24921804G>A	ENST00000329468.2	+	1	1264	c.790G>A	c.(790-792)Gag>Aag	p.E264K		NM_018958.2	NP_061831.2			nuclear pore associated protein 1	NA											NA						AGCGCCCCCTGAGCCAGCCGT	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													29	33	32			NA	NA	15		NA											NA				24921804		2202	4295	6497	SO:0001583	missense			AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823	23742	23742			1190	protein-coding gene	gene with protein product		610922	chromosome 15 open reading frame 2	C15orf2	NA	10783265, 22694955	Standard	NM_018958	NM_018958	NA	Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.790G>A	15.37:g.24921804G>A	ENSP00000333735:p.Glu264Lys	NA		37	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	4.614	0.114086	0.08831	.	.	ENSG00000185823	ENST00000329468	T	0.06142	3.34	1.78	-0.215	0.13157	.	2.345200	0.02564	N	0.097112	T	0.06005	0.0156	N	0.22421	0.69	0.09310	N	1	P	0.49559	0.925	P	0.46510	0.519	T	0.24621	-1.0155	10	0.20519	T	0.43	.	3.0879	0.06284	0.1867:0.2874:0.5259:0.0	.	264	Q9NZP6	CO002_HUMAN	K	264	ENSP00000333735:E264K	ENSP00000333735:E264K	E	+	1	0	C15orf2	22472897	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.284000	0.08422	-0.048000	0.13401	-1.376000	0.01182	GAG	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251253.1		+	ENST00000329468.2	Missense_Mutation	SNP	15 : 24921804 - 24921804 A PAAD-TCGA-HZ-A4BH-Tumor-SM-47KKJ	432	58
NRXN2	9379	broad.mit.edu	37	11	64434761	64434761	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr11:64434761C>T	ENST00000377559.3	-	8	2127	c.1666G>A	c.(1666-1668)Gag>Aag	p.E556K	NRXN2_ENST00000265459.6_Missense_Mutation_p.E587K|NRXN2_ENST00000377551.1_Missense_Mutation_p.E587K|NRXN2_ENST00000409571.1_Missense_Mutation_p.E580K	NM_138732.2	NP_620060.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	587	Laminin G-like 3.				cell adhesion	integral to membrane	metal ion binding	p.E587K(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						TGACACCACTCGCCATCATTG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											92	75	81			NA	NA	11		NA											NA				64434761		2201	4297	6498	SO:0001583	missense				CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076	9379	9379			8009	protein-coding gene	gene with protein product	neurexin II	600566			NA	1621094	Standard	NM_015080	NM_015080	NA	Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377559.3:c.1666G>A	11.37:g.64434761C>T	ENSP00000366782:p.Glu556Lys	NA	A7E2C1|Q9Y2D6	37	CCDS31597.1	.	.	.	.	.	.	.	.	.	.	C	31	5.087169	0.94100	.	.	ENSG00000110076	ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571	T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08	4.61	4.61	0.57282	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.42821	U	0.000657	T	0.80491	0.4633	L	0.28115	0.83	0.58432	D	0.999999	D;D;D	0.76494	0.998;0.995;0.999	D;D;D	0.69479	0.964;0.936;0.909	T	0.83054	-0.0151	10	0.72032	D	0.01	.	14.9631	0.71171	0.0:1.0:0.0:0.0	.	556;587;333	Q9P2S2-2;Q9P2S2;E7EV67	.;NRX2A_HUMAN;.	K	587;556;587;556;580	ENSP00000366774:E587K;ENSP00000366782:E556K;ENSP00000265459:E587K;ENSP00000386416:E580K	ENSP00000265459:E587K	E	-	1	0	NRXN2	64191337	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.637000	0.83313	2.383000	0.81215	0.448000	0.29417	GAG	NRXN2-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000141951.1		-	ENST00000377559.3	Missense_Mutation	SNP	11 : 64434761 - 64434761 T PAAD-TCGA-HZ-A4BH-Tumor-SM-47KKJ	621	86
NTNG1	22854	broad.mit.edu	37	1	107979392	107979392	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr1:107979392C>T	ENST00000370068.1	+	7	2207	c.1361C>T	c.(1360-1362)cCg>cTg	p.P454L	NTNG1_ENST00000370073.2_Missense_Mutation_p.P454L|NTNG1_ENST00000370070.2_Intron|NTNG1_ENST00000370067.1_Intron|NTNG1_ENST00000370071.2_Intron|NTNG1_ENST00000370061.3_Missense_Mutation_p.P420L|NTNG1_ENST00000542803.1_Missense_Mutation_p.P454L|NTNG1_ENST00000370072.3_Intron|NTNG1_ENST00000370065.1_Intron|NTNG1_ENST00000370074.4_Intron|NTNG1_ENST00000370066.1_Intron			Q9Y2I2	NTNG1_HUMAN	netrin G1	454	Laminin EGF-like 3.				axonogenesis	anchored to plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		GAGTGTCTGCCGGGAAATTCC	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													155	134	140			NA	NA	1		NA											NA				107979392		1568	3582	5150	SO:0001583	missense			AB023193	CCDS30785.1, CCDS44179.1, CCDS44180.1	1p13.2-p13.1	2013-03-01			ENSG00000162631	ENSG00000162631	22854	22854		Netrins	23319	protein-coding gene	gene with protein product	netrin G1f, Netrin-G1	608818			NA	10964959	Standard	NM_014917	NM_001113226	NA	Approved	KIAA0976, Lmnt1	uc001dvh.4	Q9Y2I2	OTTHUMG00000010965	ENST00000370068.1:c.1361C>T	1.37:g.107979392C>T	ENSP00000359085:p.Pro454Leu	NA	Q5VU86|Q5VU87|Q5VU89|Q5VU90|Q5VU91|Q7Z2Y3|Q8N633	37	CCDS44180.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.274201	0.59649	.	.	ENSG00000162631	ENST00000370073;ENST00000542803;ENST00000370061;ENST00000370064;ENST00000370062;ENST00000370068	T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05	5.87	5.87	0.94306	EGF-like, laminin (3);	0.000000	0.64402	D	0.000017	T	0.64034	0.2562	M	0.84773	2.715	0.80722	D	1	D;P	0.53462	0.96;0.935	P;P	0.46940	0.532;0.449	T	0.64972	-0.6281	10	0.30078	T	0.28	.	16.7906	0.85589	0.0:0.8715:0.1285:0.0	.	420;454	B4DKF0;Q9Y2I2	.;NTNG1_HUMAN	L	454;454;420;257;201;454	ENSP00000359090:P454L;ENSP00000440561:P454L;ENSP00000359078:P420L;ENSP00000359085:P454L	ENSP00000359078:P420L	P	+	2	0	NTNG1	107780915	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	4.584000	0.60971	2.941000	0.99782	0.655000	0.94253	CCG	NTNG1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000030340.1		+	ENST00000370068.1	Missense_Mutation	SNP	1 : 107979392 - 107979392 T PAAD-TCGA-HZ-A4BH-Tumor-SM-47KKJ	230	36
NTNG2	84628	broad.mit.edu	37	9	135073821	135073821	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr9:135073821C>T	ENST00000393229.3	+	3	1458	c.682C>T	c.(682-684)Cgc>Tgc	p.R228C	NTNG2_ENST00000372179.3_Missense_Mutation_p.R228C|NTNG2_ENST00000360670.3_Missense_Mutation_p.R228C|NTNG2_ENST00000393228.4_Missense_Mutation_p.R228C	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	228	Laminin N-terminal.				axonogenesis	anchored to plasma membrane				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		CCCCGACCTGCGCAACATGGA	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	53	54			NA	NA	9		NA											NA				135073821		2203	4300	6503	SO:0001583	missense			AB058760	CCDS6946.1	9q34	2013-03-01	2003-12-02	2003-12-03	ENSG00000196358	ENSG00000196358	84628	84628		Netrins	14288	protein-coding gene	gene with protein product	Netrin-G2		netrin G1	NTNG1	NA		Standard	NM_032536	NM_032536	NA	Approved	KIAA1857, Lmnt2	uc004cbh.2	Q96CW9	OTTHUMG00000020835	ENST00000393229.3:c.682C>T	9.37:g.135073821C>T	ENSP00000376921:p.Arg228Cys	NA	Q5JUJ2|Q6UXY0|Q96JH0	37	CCDS6946.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.113959	0.77210	.	.	ENSG00000196358	ENST00000393229;ENST00000393228;ENST00000360670;ENST00000372179	T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97	5.22	5.22	0.72569	Laminin, N-terminal (3);	0.068253	0.64402	D	0.000020	T	0.77054	0.4074	L	0.57536	1.79	0.49915	D	0.999837	D	0.71674	0.998	P	0.52309	0.695	T	0.79227	-0.1890	10	0.62326	D	0.03	.	11.6166	0.51094	0.284:0.716:0.0:0.0	.	228	Q96CW9	NTNG2_HUMAN	C	228	ENSP00000376921:R228C;ENSP00000376920:R228C;ENSP00000353888:R228C;ENSP00000361252:R228C	ENSP00000353888:R228C	R	+	1	0	NTNG2	134063642	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.164000	0.50770	2.417000	0.82017	0.561000	0.74099	CGC	NTNG2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054779.1		+	ENST00000393229.3	Missense_Mutation	SNP	9 : 135073821 - 135073821 T PAAD-TCGA-HZ-A4BH-Tumor-SM-47KKJ	413	11
NUDT2	318	broad.mit.edu	37	9	34343390	34343390	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr9:34343390G>T	ENST00000379158.2	+	5	754	c.396G>T	c.(394-396)aaG>aaT	p.K132N	NUDT2_ENST00000346365.4_Missense_Mutation_p.K132N|NUDT2_ENST00000379155.5_Missense_Mutation_p.K132N	NM_001161.4	NP_001152.1	P50583	AP4A_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 2	132	Nudix hydrolase.				induction of apoptosis|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity|bis(5'-nucleosyl)-tetraphosphatase (symmetrical) activity|GTP binding			lung(3)	3			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		AGGAGATGAAGGCAGCGCTCC	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(95;1683 1957 4276 39813)							NA				0													41	41	41			NA	NA	9		NA											NA				34343390		2203	4300	6503	SO:0001583	missense			U30313	CCDS6552.1	9p13	2008-07-21			ENSG00000164978	ENSG00000164978	318	318		Nudix motif containing	8049	protein-coding gene	gene with protein product	Ap4A hydrolase 1, Ap4Aase, bis(5'-nucleosyl)-tetraphosphatase (asymmetrical), diadenosine tetraphosphatase, diadenosine 5',5''-P1,P4-tetraphosphate pyrophosphohydrolase	602852		APAH1	NA	7487923, 9479504	Standard	NM_001161	NM_001161	NA	Approved		uc022bga.1	P50583	OTTHUMG00000019817	ENST00000379158.2:c.396G>T	9.37:g.34343390G>T	ENSP00000368455:p.Lys132Asn	NA	D3DRM0|Q5T589	37	CCDS6552.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.382081	0.42207	.	.	ENSG00000164978	ENST00000337747;ENST00000379154;ENST00000379155;ENST00000346365;ENST00000379158	T;T;T	0.08458	3.09;3.09;3.09	5.88	4.99	0.66335	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	0.205060	0.56097	D	0.000038	T	0.11665	0.0284	L	0.55481	1.735	0.51233	D	0.999916	B	0.26483	0.15	B	0.34536	0.185	T	0.03969	-1.0988	10	0.56958	D	0.05	-18.5143	9.5184	0.39120	0.1987:0.0:0.8013:0.0	.	132	P50583	AP4A_HUMAN	N	132	ENSP00000368452:K132N;ENSP00000344187:K132N;ENSP00000368455:K132N	ENSP00000338397:K132N	K	+	3	2	NUDT2	34333390	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.713000	0.61895	1.509000	0.48786	0.561000	0.74099	AAG	NUDT2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052160.2		+	ENST00000379158.2	Missense_Mutation	SNP	9 : 34343390 - 34343390 T PAAD-TCGA-HZ-A4BH-Tumor-SM-47KKJ	299	11
OR1A1	8383	broad.mit.edu	37	17	3119669	3119669	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr17:3119669G>A	ENST00000304094.1	+	1	755	c.755G>A	c.(754-756)gGt>gAt	p.G252D		NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A, member 1	252					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						TTGTATTATGGTACAGTCATG	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													160	137	144			NA	NA	17		NA											NA				3119669		2203	4300	6503	SO:0001583	missense			AF087918	CCDS11022.1	17p13.3	2012-08-09			ENSG00000172146	ENSG00000172146	8383	8383		GPCR / Class A : Olfactory receptors	8179	protein-coding gene	gene with protein product					NA	10673334	Standard	NM_014565	NM_014565	NA	Approved	OR17-7	uc010vrc.2	Q9P1Q5	OTTHUMG00000090637	ENST00000304094.1:c.755G>A	17.37:g.3119669G>A	ENSP00000305207:p.Gly252Asp	NA	A5D914|Q6IFM1|Q6NTA9|Q96R87	37	CCDS11022.1	.	.	.	.	.	.	.	.	.	.	G	16.40	3.111392	0.56398	.	.	ENSG00000172146	ENST00000304094	T	0.39229	1.09	5.05	5.05	0.67936	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000074	T	0.78748	0.4332	H	0.98333	4.205	0.32665	N	0.517561	D	0.89917	1.0	D	0.97110	1.0	D	0.88672	0.3196	10	0.87932	D	0	.	17.1395	0.86749	0.0:0.0:1.0:0.0	.	252	Q9P1Q5	OR1A1_HUMAN	D	252	ENSP00000305207:G252D	ENSP00000305207:G252D	G	+	2	0	OR1A1	3066419	0.925000	0.31364	1.000000	0.80357	0.607000	0.37147	1.912000	0.39946	2.632000	0.89209	0.511000	0.50034	GGT	OR1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207292.1		+	ENST00000304094.1	Missense_Mutation	SNP	17 : 3119669 - 3119669 A PAAD-TCGA-HZ-A4BH-Tumor-SM-47KKJ	809	144
OR1D2	4991	broad.mit.edu	37	17	2996105	2996105	+	Silent	SNP	G	G	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr17:2996105G>A	ENST00000331459.1	-	1	185	c.186C>T	c.(184-186)ttC>ttT	p.F62F		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	62					cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						GGTTGGCCAGGAAGAAGTACA	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													153	150	151			NA	NA	17		NA											NA				2996105		2203	4300	6503	SO:0001819	synonymous_variant			U04678	CCDS11019.1	17p13.3	2012-08-09			ENSG00000184166	ENSG00000184166	4991	4991		GPCR / Class A : Olfactory receptors	8183	protein-coding gene	gene with protein product		164342		OLFR1	NA	1370859, 1840504	Standard	NM_002548	NM_002548	NA	Approved	OR17-4	uc010vrb.2	P34982	OTTHUMG00000090619	ENST00000331459.1:c.186C>T	17.37:g.2996105G>A		NA	Q6IFL8|Q96RA4|Q9UM78	37	CCDS11019.1																																																																																			OR1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207207.1		-	ENST00000331459.1	Silent	SNP	17 : 2996105 - 2996105 A PAAD-TCGA-HZ-A4BH-Tumor-SM-47KKJ	1014	88
OR5L1	219437	broad.mit.edu	37	11	55579400	55579400	+	Missense_Mutation	SNP	C	C	T	rs144467940	by1000genomes	TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr11:55579400C>T	ENST00000333973.2	+	1	547	c.458C>T	c.(457-459)aCg>aTg	p.T153M		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TTCTGTGGGACGGTGTGTTCT	0.453		NA											c	6	0.0027	NA	NA	2184	NA	0.9998	,	,	NA	2e-04	0.01	NA	NA	0.0027	0.9723	LOWCOV,EXOME	NA	NA	5e-04	SNP								NA				0													217	181	193			NA	NA	11		NA											NA				55579400		2200	4296	6496	SO:0001583	missense			AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117	219437	219437		GPCR / Class A : Olfactory receptors	8350	protein-coding gene	gene with protein product					NA		Standard	NM_001004738	NM_001004738	NA	Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.458C>T	11.37:g.55579400C>T	ENSP00000335529:p.Thr153Met	NA	B2RNK6|Q6IFD0	37	CCDS31509.1	6	0.0027472527472527475	0	0.0	0	0.0	0	0.0	6	0.0079155672823219	c	9.351	1.065546	0.20067	.	.	ENSG00000186117	ENST00000333973	T	0.00091	8.74	3.98	-3.09	0.05331	GPCR, rhodopsin-like superfamily (1);	0.729368	0.12300	N	0.481164	T	0.00073	0.0002	N	0.04705	-0.18	0.09310	N	1	B	0.25105	0.118	B	0.28991	0.097	T	0.09292	-1.0681	10	0.44086	T	0.13	-0.6723	10.911	0.47108	0.0:0.2882:0.0:0.7118	.	153	Q8NGL2	OR5L1_HUMAN	M	153	ENSP00000335529:T153M	ENSP00000335529:T153M	T	+	2	0	OR5L1	55335976	0.000000	0.05858	0.000000	0.03702	0.520000	0.34377	-0.308000	0.08156	-0.861000	0.04094	-0.516000	0.04426	ACG	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391514.1		+	ENST00000333973.2	Missense_Mutation	SNP	11 : 55579400 - 55579400 T PAAD-TCGA-HZ-A4BH-Tumor-SM-47KKJ	1089	175
PCDH12	51294	broad.mit.edu	37	5	141335640	141335640	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr5:141335640C>T	ENST00000231484.3	-	1	2987	c.1777G>A	c.(1777-1779)Gag>Aag	p.E593K		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	593					neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGGGAGTCTCGATGGGCACC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	47	48			NA	NA	5		NA											NA				141335640		2203	4300	6503	SO:0001583	missense			AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555	51294	51294		Cadherins / Protocadherins : Non-clustered	8657	protein-coding gene	gene with protein product		605622			NA	10716726, 10380929	Standard	NM_016580	NM_016580	NA	Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.1777G>A	5.37:g.141335640C>T	ENSP00000231484:p.Glu593Lys	NA	Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	37	CCDS4269.1	.	.	.	.	.	.	.	.	.	.	C	11.58	1.681193	0.29872	.	.	ENSG00000113555	ENST00000231484	T	0.53423	0.62	5.38	5.38	0.77491	.	0.194702	0.44285	D	0.000471	T	0.37019	0.0988	L	0.54323	1.7	0.43430	D	0.995596	P	0.41710	0.76	B	0.22152	0.038	T	0.39292	-0.9621	10	0.44086	T	0.13	.	14.5119	0.67794	0.0:1.0:0.0:0.0	.	593	Q9NPG4	PCD12_HUMAN	K	593	ENSP00000231484:E593K	ENSP00000231484:E593K	E	-	1	0	PCDH12	141315824	1.000000	0.71417	0.755000	0.31263	0.059000	0.15707	5.396000	0.66297	2.802000	0.96397	0.655000	0.94253	GAG	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251858.1		-	ENST00000231484.3	Missense_Mutation	SNP	5 : 141335640 - 141335640 T PAAD-TCGA-HZ-A4BH-Tumor-SM-47KKJ	313	54
PCDH18	54510	broad.mit.edu	37	4	138451227	138451227	+	Silent	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr4:138451227C>T	ENST00000507846.1	-	2	1909	c.1356G>A	c.(1354-1356)ctG>ctA	p.L452L	PCDH18_ENST00000412923.2_Silent_p.L672L|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000344876.4_Silent_p.L672L|PCDH18_ENST00000510305.1_Intron			Q9HCL0	PCD18_HUMAN	protocadherin 18	672	Cadherin 4.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TCATGCACTTCAGAAGGACTT	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													169	159	163			NA	NA	4		NA											NA				138451227		2203	4300	6503	SO:0001819	synonymous_variant			AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184	54510	54510		Cadherins / Protocadherins : Non-clustered	14268	protein-coding gene	gene with protein product		608287			NA	10835267, 11549318	Standard	NM_019035	XM_005263070	NA	Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000507846.1:c.1356G>A	4.37:g.138451227C>T		NA	A8K7K3|B7ZKT1|Q52LS2	37																																																																																				PCDH18-003	NOVEL	alternative_5_UTR|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000364616.1		-	ENST00000507846.1	Silent	SNP	4 : 138451227 - 138451227 T PAAD-TCGA-HZ-A4BH-Tumor-SM-47KKJ	1033	91
PCDHA2	56146	broad.mit.edu	37	5	140180975	140180975	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr5:140180975C>T	ENST00000520672.2	+	2	2494				PCDHA3_ENST00000532566.2_Missense_Mutation_p.R65W|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Missense_Mutation_p.R65W	NM_031496.1	NP_113684.1			protocadherin alpha 2	NA										NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCCTGTTCCGGGTGGCGTC	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	70	66			NA	NA	5		NA											NA				140180975		2203	4294	6497	SO:0001627	intron_variant			AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969	56146	56146		Cadherins / Protocadherins : Clustered	8668	other	complex locus constituent	KIAA0345-like 12	606308			NA	10380929	Standard	NM_018905	NM_018905	NA	Approved			Q9Y5H9		ENST00000520672.2:c.2389-3670C>T	5.37:g.140180975C>T		NA		37		.	.	.	.	.	.	.	.	.	.	c	20.4	3.980912	0.74474	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.38887	1.11;1.11	4.48	3.58	0.41010	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.000000	0.37955	U	0.001876	T	0.78130	0.4235	H	0.99117	4.435	0.40488	D	0.980514	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.993	D	0.87025	0.2131	10	0.87932	D	0	.	13.635	0.62217	0.1614:0.8386:0.0:0.0	.	65;65	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	W	65	ENSP00000429808:R65W;ENSP00000434086:R65W	ENSP00000429808:R65W	R	+	1	2	PCDHA3	140161159	0.994000	0.37717	1.000000	0.80357	0.978000	0.69477	3.208000	0.51114	0.963000	0.38082	0.586000	0.80456	CGG	PCDHA2-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000374265.2		+	ENST00000520672.2	Intron	SNP	5 : 140180975 - 140180975 T PAAD-TCGA-HZ-A4BH-Tumor-SM-47KKJ	931	61
PEAK1	79834	broad.mit.edu	37	15	77472919	77472919	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr15:77472919T>C	ENST00000560626.2	-	4	1825	c.1350A>G	c.(1348-1350)atA>atG	p.I450M	PEAK1_ENST00000312493.4_Missense_Mutation_p.I450M|PEAK1_ENST00000558305.1_Missense_Mutation_p.I450M			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	450					cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding				NA						GGACAAGGTTTATGGTTACTG	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													202	193	196			NA	NA	15		NA											NA				77472919		2009	4180	6189	SO:0001583	missense				CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517	79834	79834			29431	protein-coding gene	gene with protein product		614248			NA	16879967, 20534451	Standard		NM_024776	NA	Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.1350A>G	15.37:g.77472919T>C	ENSP00000452796:p.Ile450Met	NA	Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	37	CCDS42062.1	.	.	.	.	.	.	.	.	.	.	T	13.97	2.397091	0.42512	.	.	ENSG00000173517	ENST00000312493	T	0.62498	0.02	5.65	-1.59	0.08453	.	0.000000	0.34411	U	0.003990	T	0.56470	0.1987	L	0.27053	0.805	0.36065	D	0.841722	D	0.64830	0.994	P	0.60173	0.87	T	0.59129	-0.7512	10	0.46703	T	0.11	-6.6857	7.1881	0.25811	0.3295:0.0:0.3407:0.3299	.	450	Q9H792	PEAK1_HUMAN	M	450	ENSP00000309230:I450M	ENSP00000309230:I450M	I	-	3	3	AC087465.1	75259974	0.812000	0.29077	0.975000	0.42487	0.917000	0.54804	-0.290000	0.08354	-0.565000	0.06061	0.454000	0.30748	ATA	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000419483.3		-	ENST00000560626.2	Missense_Mutation	SNP	15 : 77472919 - 77472919 C PAAD-TCGA-HZ-A4BH-Tumor-SM-47KKJ	1151	186
PLD3	23646	broad.mit.edu	37	19	40882579	40882579	+	Silent	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr19:40882579C>T	ENST00000409587.1	+	11	1480	c.1083C>T	c.(1081-1083)cgC>cgT	p.R361R	PLD3_ENST00000409735.4_Silent_p.R361R|PLD3_ENST00000409419.1_Silent_p.R361R|PLD3_ENST00000356508.5_Silent_p.R361R|PLD3_ENST00000409281.1_Silent_p.R361R			Q8IV08	PLD3_HUMAN	phospholipase D family, member 3	361					lipid catabolic process	endoplasmic reticulum membrane|integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			TCAAGGTGCGCCTGCTCATCA	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	73	75			NA	NA	19		NA											NA				40882579		2203	4300	6503	SO:0001819	synonymous_variant			BC000553	CCDS33027.1	19q13.2	2014-03-14	2005-05-20		ENSG00000105223	ENSG00000105223	23646	23646			17158	protein-coding gene	gene with protein product		615698	phospholipase D3		NA	9140189, 15794758	Standard	NM_012268	XM_005258704	NA	Approved	HU-K4	uc002onj.4	Q8IV08	OTTHUMG00000152736	ENST00000409587.1:c.1083C>T	19.37:g.40882579C>T		NA	Q92853|Q9BW87	37	CCDS33027.1																																																																																			PLD3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000327721.1		+	ENST00000409587.1	Silent	SNP	19 : 40882579 - 40882579 T PAAD-TCGA-HZ-A4BH-Tumor-SM-47KKJ	330	79
PRAMEF4	400735	broad.mit.edu	37	1	12943068	12943068	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr1:12943068G>A	ENST00000235349.5	-	2	218	c.148C>T	c.(148-150)Cgc>Tgc	p.R50C		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	50								p.R50C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCCTCACAGCGTCTCCTGCTG	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	endometrium(1)											43	50	48			NA	NA	1		NA											NA				12943068		2174	4264	6438	SO:0001583	missense				CCDS30592.1	1p36.21	2013-01-17			ENSG00000243073	ENSG00000243073	400735	400735		-	31971	protein-coding gene	gene with protein product					NA		Standard	NM_001009611	NM_001009611	NA	Approved	RP5-845O24.6	uc001aun.2	O60810	OTTHUMG00000001987	ENST00000235349.5:c.148C>T	1.37:g.12943068G>A	ENSP00000235349:p.Arg50Cys	NA	Q5LJB5	37	CCDS30592.1	.	.	.	.	.	.	.	.	.	.	g	5.461	0.270195	0.10349	.	.	ENSG00000243073	ENST00000235349	T	0.04970	3.52	1.48	1.48	0.22813	.	0.786987	0.11561	N	0.551731	T	0.05686	0.0149	L	0.38838	1.175	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.31110	-0.9955	10	0.54805	T	0.06	.	6.4564	0.21932	0.0:0.0:1.0:0.0	.	50	O60810	PRAM4_HUMAN	C	50	ENSP00000235349:R50C	ENSP00000235349:R50C	R	-	1	0	PRAMEF4	12865655	0.000000	0.05858	0.003000	0.11579	0.008000	0.06430	0.224000	0.17738	1.137000	0.42214	0.400000	0.26472	CGC	PRAMEF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000005518.1		-	ENST00000235349.5	Missense_Mutation	SNP	1 : 12943068 - 12943068 A PAAD-TCGA-HZ-A4BH-Tumor-SM-47KKJ	979	90
PRL	5617	broad.mit.edu	37	6	22294688	22294688	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr6:22294688C>T	ENST00000306482.1	-	2	672	c.154G>A	c.(154-156)Gtc>Atc	p.V52I	RP3-404K8.2_ENST00000561912.1_RNA	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN	prolactin	52					cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth	cytosol|extracellular region	hormone activity|prolactin receptor binding			NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16	Ovarian(93;0.163)					TGGGACAGGACGACGGCGCGG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	91	94			NA	NA	6		NA											NA				22294688		2203	4300	6503	SO:0001583	missense			D00411	CCDS4548.1	6p22.3	2013-09-16			ENSG00000172179	ENSG00000172179	5617	5617			9445	protein-coding gene	gene with protein product		176760			NA		Standard	NM_000948	NM_000948	NA	Approved		uc003ndq.3	P01236	OTTHUMG00000016111	ENST00000306482.1:c.154G>A	6.37:g.22294688C>T	ENSP00000302150:p.Val52Ile	NA	Q15199|Q92996	37	CCDS4548.1	.	.	.	.	.	.	.	.	.	.	C	12.63	1.996710	0.35226	.	.	ENSG00000172179	ENST00000306482	D	0.88741	-2.42	5.85	0.828	0.18841	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.538216	0.21188	N	0.078687	T	0.49795	0.1578	N	0.02854	-0.475	0.19945	N	0.999948	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.52495	-0.8568	10	0.28530	T	0.3	0.6696	5.8852	0.18878	0.0:0.2086:0.129:0.6624	.	52;53	P01236;Q5I0G2	PRL_HUMAN;.	I	52	ENSP00000302150:V52I	ENSP00000302150:V52I	V	-	1	0	PRL	22402667	0.999000	0.42202	0.922000	0.36590	0.815000	0.46073	0.547000	0.23299	0.122000	0.18314	-0.471000	0.05019	GTC	PRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043327.1		-	ENST00000306482.1	Missense_Mutation	SNP	6 : 22294688 - 22294688 T PAAD-TCGA-HZ-A4BH-Tumor-SM-47KKJ	422	49
PRODH2	58510	broad.mit.edu	37	19	36302895	36302895	+	Missense_Mutation	SNP	T	T	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr19:36302895T>A	ENST00000301175.3	-	5	811	c.794A>T	c.(793-795)gAg>gTg	p.E265V		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	265					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGCCAGCCTCTCGGGGCTCAG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	46	48			NA	NA	19		NA											NA				36302895		2203	4300	6503	SO:0001583	missense			U80018	CCDS12478.1	19q13.1	2014-07-11				ENSG00000250799	58510	58510			17325	protein-coding gene	gene with protein product					NA		Standard	NM_021232	NM_021232	NA	Approved	HSPOX1	uc002obx.1	Q9UF12		ENST00000301175.3:c.794A>T	19.37:g.36302895T>A	ENSP00000301175:p.Glu265Val	NA		37	CCDS12478.1	.	.	.	.	.	.	.	.	.	.	T	15.74	2.922070	0.52653	.	.	ENSG00000250799	ENST00000301175	T	0.05855	3.38	4.86	3.84	0.44239	.	.	.	.	.	T	0.08758	0.0217	L	0.57536	1.79	0.80722	D	1	B	0.34103	0.437	B	0.38616	0.277	T	0.16630	-1.0396	9	0.33940	T	0.23	.	7.7224	0.28740	0.3387:0.0:0.0:0.6613	.	265	Q9UF12	PROD2_HUMAN	V	265	ENSP00000301175:E265V	ENSP00000301175:E265V	E	-	2	0	PRODH2	40994735	0.997000	0.39634	0.565000	0.28409	0.819000	0.46315	4.364000	0.59479	0.977000	0.38444	0.533000	0.62120	GAG	PRODH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000452552.2		-	ENST00000301175.3	Missense_Mutation	SNP	19 : 36302895 - 36302895 A PAAD-TCGA-HZ-A4BH-Tumor-SM-47KKJ	304	17
PRODH2	58510	broad.mit.edu	37	19	36302896	36302896	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr19:36302896C>A	ENST00000301175.3	-	5	810	c.793G>T	c.(793-795)Gag>Tag	p.E265*		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	265					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCCAGCCTCTCGGGGCTCAGC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	46	48			NA	NA	19		NA											NA				36302896		2203	4300	6503	SO:0001587	stop_gained			U80018	CCDS12478.1	19q13.1	2014-07-11				ENSG00000250799	58510	58510			17325	protein-coding gene	gene with protein product					NA		Standard	NM_021232	NM_021232	NA	Approved	HSPOX1	uc002obx.1	Q9UF12		ENST00000301175.3:c.793G>T	19.37:g.36302896C>A	ENSP00000301175:p.Glu265*	NA		37	CCDS12478.1	.	.	.	.	.	.	.	.	.	.	C	34	5.398174	0.96030	.	.	ENSG00000250799	ENST00000301175	.	.	.	4.86	2.75	0.32379	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	.	10.2938	0.43612	0.0:0.8654:0.0:0.1346	.	.	.	.	X	265	.	ENSP00000301175:E265X	E	-	1	0	PRODH2	40994736	0.346000	0.24844	0.463000	0.27130	0.810000	0.45777	1.290000	0.33319	0.785000	0.33685	0.655000	0.94253	GAG	PRODH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000452552.2		-	ENST00000301175.3	Nonsense_Mutation	SNP	19 : 36302896 - 36302896 A PAAD-TCGA-HZ-A4BH-Tumor-SM-47KKJ	301	17
PRODH2	58510	broad.mit.edu	37	19	36303115	36303115	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr19:36303115C>A	ENST00000301175.3	-	4	676	c.659G>T	c.(658-660)gGc>gTc	p.G220V		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	220					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTCCAGGAGGCCCCGTGACAG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	57	55			NA	NA	19		NA											NA				36303115		2203	4299	6502	SO:0001583	missense			U80018	CCDS12478.1	19q13.1	2014-07-11				ENSG00000250799	58510	58510			17325	protein-coding gene	gene with protein product					NA		Standard	NM_021232	NM_021232	NA	Approved	HSPOX1	uc002obx.1	Q9UF12		ENST00000301175.3:c.659G>T	19.37:g.36303115C>A	ENSP00000301175:p.Gly220Val	NA		37	CCDS12478.1	.	.	.	.	.	.	.	.	.	.	C	1.117	-0.656468	0.03480	.	.	ENSG00000250799	ENST00000301175	T	0.27557	1.66	4.85	-0.471	0.12119	.	.	.	.	.	T	0.21962	0.0529	L	0.51422	1.61	0.20307	N	0.999911	B	0.27625	0.183	B	0.22386	0.039	T	0.25502	-1.0130	9	0.54805	T	0.06	.	2.2746	0.04099	0.1245:0.4534:0.1295:0.2926	.	220	Q9UF12	PROD2_HUMAN	V	220	ENSP00000301175:G220V	ENSP00000301175:G220V	G	-	2	0	PRODH2	40994955	0.521000	0.26258	0.004000	0.12327	0.020000	0.10135	0.698000	0.25571	-0.384000	0.07845	-0.797000	0.03246	GGC	PRODH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000452552.2		-	ENST00000301175.3	Missense_Mutation	SNP	19 : 36303115 - 36303115 A PAAD-TCGA-HZ-A4BH-Tumor-SM-47KKJ	469	44
PRR11	55771	broad.mit.edu	37	17	57271015	57271015	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr17:57271015C>T	ENST00000262293.4	+	5	877	c.565C>T	c.(565-567)Cca>Tca	p.P189S		NM_018304.3	NP_060774.2	Q96HE9	PRR11_HUMAN	proline rich 11	189	Pro-rich.									breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1)	16	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					tcctcctcctccacctccacc	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	81	91			NA	NA	17		NA											NA				57271015		2203	4300	6503	SO:0001583	missense				CCDS11614.1	17q23.2	2005-12-13				ENSG00000068489	55771	55771			25619	protein-coding gene	gene with protein product		615920			NA	11799066	Standard	NM_018304	NM_018304	NA	Approved	FLJ11029	uc002ixf.2	Q96HE9		ENST00000262293.4:c.565C>T	17.37:g.57271015C>T	ENSP00000262293:p.Pro189Ser	NA	Q9NUZ7|Q9NXE9	37	CCDS11614.1	.	.	.	.	.	.	.	.	.	.	C	14.49	2.549872	0.45383	.	.	ENSG00000068489	ENST00000262293	.	.	.	5.5	5.5	0.81552	.	0.098878	0.44902	N	0.000402	T	0.65450	0.2692	L	0.29908	0.895	0.50813	D	0.999894	D	0.71674	0.998	D	0.66979	0.948	T	0.67550	-0.5642	9	0.66056	D	0.02	-3.8599	16.467	0.84081	0.0:1.0:0.0:0.0	.	189	Q96HE9	PRR11_HUMAN	S	189	.	ENSP00000262293:P189S	P	+	1	0	PRR11	54625797	0.908000	0.30866	0.764000	0.31436	0.193000	0.23685	3.741000	0.55090	2.729000	0.93468	0.561000	0.74099	CCA	PRR11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000445949.1		+	ENST00000262293.4	Missense_Mutation	SNP	17 : 57271015 - 57271015 T PAAD-TCGA-HZ-A4BH-Tumor-SM-47KKJ	590	91
PRR11	55771	broad.mit.edu	37	17	57271016	57271016	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr17:57271016C>T	ENST00000262293.4	+	5	878	c.566C>T	c.(565-567)cCa>cTa	p.P189L		NM_018304.3	NP_060774.2	Q96HE9	PRR11_HUMAN	proline rich 11	189	Pro-rich.									breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1)	16	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					cctcctcctccacctccacct	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	81	91			NA	NA	17		NA											NA				57271016		2203	4300	6503	SO:0001583	missense				CCDS11614.1	17q23.2	2005-12-13				ENSG00000068489	55771	55771			25619	protein-coding gene	gene with protein product		615920			NA	11799066	Standard	NM_018304	NM_018304	NA	Approved	FLJ11029	uc002ixf.2	Q96HE9		ENST00000262293.4:c.566C>T	17.37:g.57271016C>T	ENSP00000262293:p.Pro189Leu	NA	Q9NUZ7|Q9NXE9	37	CCDS11614.1	.	.	.	.	.	.	.	.	.	.	C	12.47	1.948265	0.34377	.	.	ENSG00000068489	ENST00000262293	.	.	.	5.5	3.47	0.39725	.	0.098878	0.44902	D	0.000402	T	0.45836	0.1362	L	0.29908	0.895	0.58432	D	0.999999	B	0.32101	0.356	B	0.38562	0.276	T	0.43015	-0.9417	9	0.44086	T	0.13	-3.8599	7.6838	0.28528	0.1648:0.7514:0.0:0.0838	.	189	Q96HE9	PRR11_HUMAN	L	189	.	ENSP00000262293:P189L	P	+	2	0	PRR11	54625798	0.901000	0.30685	0.678000	0.29963	0.136000	0.21042	3.741000	0.55090	1.420000	0.47138	0.561000	0.74099	CCA	PRR11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000445949.1		+	ENST00000262293.4	Missense_Mutation	SNP	17 : 57271016 - 57271016 T PAAD-TCGA-HZ-A4BH-Tumor-SM-47KKJ	598	93
PRR11	55771	broad.mit.edu	37	17	57270937	57270937	+	Silent	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr17:57270937C>T	ENST00000262293.4	+	5	799	c.487C>T	c.(487-489)Ctg>Ttg	p.L163L		NM_018304.3	NP_060774.2	Q96HE9	PRR11_HUMAN	proline rich 11	163										breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1)	16	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TGCCTGCGTTCTGATCACCCC	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													166	129	142			NA	NA	17		NA											NA				57270937		2203	4300	6503	SO:0001819	synonymous_variant				CCDS11614.1	17q23.2	2005-12-13				ENSG00000068489	55771	55771			25619	protein-coding gene	gene with protein product		615920			NA	11799066	Standard	NM_018304	NM_018304	NA	Approved	FLJ11029	uc002ixf.2	Q96HE9		ENST00000262293.4:c.487C>T	17.37:g.57270937C>T		NA	Q9NUZ7|Q9NXE9	37	CCDS11614.1																																																																																			PRR11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000445949.1		+	ENST00000262293.4	Silent	SNP	17 : 57270937 - 57270937 T PAAD-TCGA-HZ-A4BH-Tumor-SM-47KKJ	770	105
PRR11	55771	broad.mit.edu	37	17	57270942	57270942	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr17:57270942C>G	ENST00000262293.4	+	5	804	c.492C>G	c.(490-492)atC>atG	p.I164M		NM_018304.3	NP_060774.2	Q96HE9	PRR11_HUMAN	proline rich 11	164										breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1)	16	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					GCGTTCTGATCACCCCTGGAG	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													166	128	141			NA	NA	17		NA											NA				57270942		2203	4300	6503	SO:0001583	missense				CCDS11614.1	17q23.2	2005-12-13				ENSG00000068489	55771	55771			25619	protein-coding gene	gene with protein product		615920			NA	11799066	Standard	NM_018304	NM_018304	NA	Approved	FLJ11029	uc002ixf.2	Q96HE9		ENST00000262293.4:c.492C>G	17.37:g.57270942C>G	ENSP00000262293:p.Ile164Met	NA	Q9NUZ7|Q9NXE9	37	CCDS11614.1	.	.	.	.	.	.	.	.	.	.	C	6.692	0.496371	0.12762	.	.	ENSG00000068489	ENST00000262293	.	.	.	5.25	1.87	0.25490	.	0.783614	0.11729	N	0.535099	T	0.18087	0.0434	N	0.08118	0	0.09310	N	1	B	0.32396	0.369	B	0.35073	0.195	T	0.19063	-1.0317	9	0.44086	T	0.13	-9.65	3.8305	0.08873	0.2002:0.5605:0.1516:0.0877	.	164	Q96HE9	PRR11_HUMAN	M	164	.	ENSP00000262293:I164M	I	+	3	3	PRR11	54625724	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	0.329000	0.19698	0.165000	0.19558	0.561000	0.74099	ATC	PRR11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000445949.1		+	ENST00000262293.4	Missense_Mutation	SNP	17 : 57270942 - 57270942 G PAAD-TCGA-HZ-A4BH-Tumor-SM-47KKJ	759	106
PRR11	55771	broad.mit.edu	37	17	57271093	57271093	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr17:57271093C>T	ENST00000262293.4	+	5	955	c.643C>T	c.(643-645)Cag>Tag	p.Q215*		NM_018304.3	NP_060774.2	Q96HE9	PRR11_HUMAN	proline rich 11	215										breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1)	16	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TAAAGCACTTCAGGTAGGTAA	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	85	90			NA	NA	17		NA											NA				57271093		2203	4300	6503	SO:0001587	stop_gained				CCDS11614.1	17q23.2	2005-12-13				ENSG00000068489	55771	55771			25619	protein-coding gene	gene with protein product		615920			NA	11799066	Standard	NM_018304	NM_018304	NA	Approved	FLJ11029	uc002ixf.2	Q96HE9		ENST00000262293.4:c.643C>T	17.37:g.57271093C>T	ENSP00000262293:p.Gln215*	NA	Q9NUZ7|Q9NXE9	37	CCDS11614.1	.	.	.	.	.	.	.	.	.	.	C	13.07	2.127327	0.37533	.	.	ENSG00000068489	ENST00000262293	.	.	.	5.5	5.5	0.81552	.	0.107189	0.41938	D	0.000783	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	-8.9529	16.467	0.84081	0.0:1.0:0.0:0.0	.	.	.	.	X	215	.	ENSP00000262293:Q215X	Q	+	1	0	PRR11	54625875	1.000000	0.71417	1.000000	0.80357	0.297000	0.27493	3.865000	0.56033	2.729000	0.93468	0.561000	0.74099	CAG	PRR11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000445949.1		+	ENST00000262293.4	Nonsense_Mutation	SNP	17 : 57271093 - 57271093 T PAAD-TCGA-HZ-A4BH-Tumor-SM-47KKJ	630	174
PRR11	55771	broad.mit.edu	37	17	57271031	57271031	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr17:57271031C>T	ENST00000262293.4	+	5	893	c.581C>T	c.(580-582)cCa>cTa	p.P194L		NM_018304.3	NP_060774.2	Q96HE9	PRR11_HUMAN	proline rich 11	194	Pro-rich.									breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1)	16	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					ccacctctgccacctcctccA	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	84	93			NA	NA	17		NA											NA				57271031		2203	4300	6503	SO:0001583	missense				CCDS11614.1	17q23.2	2005-12-13				ENSG00000068489	55771	55771			25619	protein-coding gene	gene with protein product		615920			NA	11799066	Standard	NM_018304	NM_018304	NA	Approved	FLJ11029	uc002ixf.2	Q96HE9		ENST00000262293.4:c.581C>T	17.37:g.57271031C>T	ENSP00000262293:p.Pro194Leu	NA	Q9NUZ7|Q9NXE9	37	CCDS11614.1	.	.	.	.	.	.	.	.	.	.	C	10.56	1.383406	0.25031	.	.	ENSG00000068489	ENST00000262293	.	.	.	5.5	4.52	0.55395	.	0.095162	0.46758	D	0.000275	T	0.34803	0.0910	L	0.32530	0.975	0.29978	N	0.817993	B	0.32101	0.356	B	0.38562	0.276	T	0.34601	-0.9822	9	0.49607	T	0.09	-12.7697	9.5504	0.39306	0.0:0.9057:0.0:0.0943	.	194	Q96HE9	PRR11_HUMAN	L	194	.	ENSP00000262293:P194L	P	+	2	0	PRR11	54625813	0.317000	0.24589	0.100000	0.21137	0.005000	0.04900	1.615000	0.36922	2.729000	0.93468	0.561000	0.74099	CCA	PRR11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000445949.1		+	ENST00000262293.4	Missense_Mutation	SNP	17 : 57271031 - 57271031 T PAAD-TCGA-HZ-A4BH-Tumor-SM-47KKJ	543	112
PRR11	55771	broad.mit.edu	37	17	57271006	57271006	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr17:57271006C>A	ENST00000262293.4	+	5	868	c.556C>A	c.(556-558)Cct>Act	p.P186T		NM_018304.3	NP_060774.2	Q96HE9	PRR11_HUMAN	proline rich 11	186	Pro-rich.									breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1)	16	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					CCATTTtcctcctcctcctcc	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	86	96			NA	NA	17		NA											NA				57271006		2203	4300	6503	SO:0001583	missense				CCDS11614.1	17q23.2	2005-12-13				ENSG00000068489	55771	55771			25619	protein-coding gene	gene with protein product		615920			NA	11799066	Standard	NM_018304	NM_018304	NA	Approved	FLJ11029	uc002ixf.2	Q96HE9		ENST00000262293.4:c.556C>A	17.37:g.57271006C>A	ENSP00000262293:p.Pro186Thr	NA	Q9NUZ7|Q9NXE9	37	CCDS11614.1	.	.	.	.	.	.	.	.	.	.	C	13.23	2.174345	0.38413	.	.	ENSG00000068489	ENST00000262293	.	.	.	4.53	3.53	0.40419	.	0.428017	0.22147	N	0.063971	T	0.28863	0.0716	L	0.27053	0.805	0.09310	N	0.999999	P	0.47302	0.893	P	0.44811	0.461	T	0.08126	-1.0737	9	0.59425	D	0.04	-8.2827	10.3157	0.43736	0.0:0.903:0.0:0.097	.	186	Q96HE9	PRR11_HUMAN	T	186	.	ENSP00000262293:P186T	P	+	1	0	PRR11	54625788	0.000000	0.05858	0.009000	0.14445	0.863000	0.49368	0.108000	0.15396	1.000000	0.39049	0.561000	0.74099	CCT	PRR11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000445949.1		+	ENST00000262293.4	Missense_Mutation	SNP	17 : 57271006 - 57271006 A PAAD-TCGA-HZ-A4BH-Tumor-SM-47KKJ	600	92
RARRES3	5920	broad.mit.edu	37	11	63307030	63307030	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr11:63307030C>T	ENST00000439013.2	+	2	105	c.52C>T	c.(52-54)Cgc>Tgc	p.R18C	RARRES3_ENST00000255688.3_Missense_Mutation_p.R18C|RARRES3_ENST00000354445.2_Missense_Mutation_p.R18C|RARRES3_ENST00000537871.1_Intron			Q9UL19	TIG3_HUMAN	retinoic acid receptor responder (tazarotene induced) 3	18					lipid catabolic process|negative regulation of cell proliferation		hydrolase activity			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	6						TGAGATTTTCCGCCTTGGCTA	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	123	120			NA	NA	11		NA											NA				63307030		2197	4298	6495	SO:0001583	missense				CCDS41662.1	11q23	2008-05-02			ENSG00000133321	ENSG00000133321	5920	5920			9869	protein-coding gene	gene with protein product		605092			NA	9270552	Standard		NM_004585	NA	Approved	TIG3, HRASLS4	uc001nxf.4	Q9UL19	OTTHUMG00000167850	ENST00000439013.2:c.52C>T	11.37:g.63307030C>T	ENSP00000402943:p.Arg18Cys	NA	B2R599|B4DDW2|E7ENZ7|O95200	37		.	.	.	.	.	.	.	.	.	.	C	15.22	2.768386	0.49680	.	.	ENSG00000133321	ENST00000439013;ENST00000255688;ENST00000354445	T;T;T	0.46063	0.88;0.88;0.88	4.35	2.47	0.30058	.	0.263285	0.27636	N	0.018488	T	0.65523	0.2699	M	0.90369	3.11	0.09310	N	0.999993	D	0.89917	1.0	D	0.73380	0.98	T	0.57388	-0.7820	10	0.87932	D	0	.	8.3897	0.32520	0.0:0.8054:0.0:0.1946	.	18	Q9UL19	TIG3_HUMAN	C	18	ENSP00000402943:R18C;ENSP00000255688:R18C;ENSP00000346431:R18C	ENSP00000255688:R18C	R	+	1	0	RARRES3	63063606	0.005000	0.15991	0.002000	0.10522	0.002000	0.02628	1.900000	0.39828	0.591000	0.29711	-0.251000	0.11542	CGC	RARRES3-002	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000396628.1		+	ENST00000439013.2	Missense_Mutation	SNP	11 : 63307030 - 63307030 T PAAD-TCGA-HZ-A4BH-Tumor-SM-47KKJ	514	32
RLTPR	146206	broad.mit.edu	37	16	67682804	67682804	+	Silent	SNP	G	G	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr16:67682804G>A	ENST00000334583.6	+	17	1846	c.1518G>A	c.(1516-1518)tcG>tcA	p.S506S	RLTPR_ENST00000545661.1_Silent_p.S470S	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	506										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		AGCTGCGCTCGGCCGGCGCCC	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													33	39	37			NA	NA	16		NA											NA				67682804		2045	4201	6246	SO:0001819	synonymous_variant			AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753	146206	146206			27089	protein-coding gene	gene with protein product	RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein, leucine rich repeat containing 16C	610859			NA	15588584, 19846667	Standard	NM_001013838	XM_005255807	NA	Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.1518G>A	16.37:g.67682804G>A		NA		37	CCDS45513.1																																																																																			RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000467858.1		+	ENST00000334583.6	Silent	SNP	16 : 67682804 - 67682804 A PAAD-TCGA-HZ-A4BH-Tumor-SM-47KKJ	77	4
RSU1	6251	broad.mit.edu	37	10	16794556	16794556	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr10:16794556C>T	ENST00000377921.3	-	6	881	c.580G>A	c.(580-582)Gtt>Att	p.V194I	RSU1_ENST00000464074.2_5'UTR|RSU1_ENST00000345264.5_Missense_Mutation_p.V194I|RSU1_ENST00000602389.1_Missense_Mutation_p.V141I			Q15404	RSU1_HUMAN	Ras suppressor protein 1	194					cell junction assembly|signal transduction	cytosol	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(1;7.54e-08)		GGGGGCAGAACGGTGAGGCGG	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	107	108			NA	NA	10		NA											NA				16794556		2203	4300	6503	SO:0001583	missense			AK055596	CCDS7112.1, CCDS31157.1	10p13	2012-09-20			ENSG00000148484	ENSG00000148484	6251	6251			10464	protein-coding gene	gene with protein product		179555			NA	8288261	Standard	NM_012425, NM_152724	NM_152724	NA	Approved	RSP-1, FLJ31034	uc001iol.3	Q15404	OTTHUMG00000017740	ENST00000377921.3:c.580G>A	10.37:g.16794556C>T	ENSP00000367154:p.Val194Ile	NA	D3DRU3|Q6FI17	37	CCDS7112.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.212821	0.79352	.	.	ENSG00000148484	ENST00000345264;ENST00000377921;ENST00000377911	T;T	0.09255	3.0;3.0	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.19446	0.0467	N	0.20610	0.595	0.80722	D	1	D;D	0.76494	0.981;0.999	P;D	0.63703	0.899;0.917	T	0.04017	-1.0984	10	0.42905	T	0.14	-5.5557	18.8996	0.92437	0.0:1.0:0.0:0.0	.	194;194	B0YJ73;Q15404	.;RSU1_HUMAN	I	194;194;141	ENSP00000339521:V194I;ENSP00000367154:V194I	ENSP00000339521:V194I	V	-	1	0	RSU1	16834562	1.000000	0.71417	0.972000	0.41901	0.836000	0.47400	7.456000	0.80751	2.471000	0.83476	0.585000	0.79938	GTT	RSU1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047006.1		-	ENST00000377921.3	Missense_Mutation	SNP	10 : 16794556 - 16794556 T PAAD-TCGA-HZ-A4BH-Tumor-SM-47KKJ	834	66
RYBP	23429	broad.mit.edu	37	3	72427709	72427709	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr3:72427709C>T	ENST00000477973.2	-	4	778	c.779G>A	c.(778-780)aGa>aAa	p.R260K		NM_012234.5	NP_036366.3	Q8N488	RYBP_HUMAN	RING1 and YY1 binding protein	NA					apoptosis|histone H2A monoubiquitination|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			prostate(1)|upper_aerodigestive_tract(1)	2		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)		TCCTTAAAGTCTGTGATAATG	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	124	126			NA	NA	3		NA											NA				72427709		2119	4236	6355	SO:0001583	missense			AF179286		3p14.2	2008-07-18			ENSG00000163602	ENSG00000163602	23429	23429			10480	protein-coding gene	gene with protein product	YY1 and E4TF1 associated factor 1, ring1 interactor RYBP, apoptin-associating protein 1, death effector domain-associated factor	607535			NA	10369680	Standard	NM_012234	NM_012234	NA	Approved	YEAF1, AAP1, DEDAF	uc003dpe.3	Q8N488	OTTHUMG00000159190	ENST00000477973.2:c.779G>A	3.37:g.72427709C>T	ENSP00000419494:p.Arg260Lys	NA	Q9P2W5|Q9UMW4	37		.	.	.	.	.	.	.	.	.	.	C	27.5	4.834301	0.91036	.	.	ENSG00000163602	ENST00000477973	.	.	.	5.86	5.86	0.93980	.	.	.	.	.	T	0.79482	0.4453	M	0.66939	2.045	.	.	.	.	.	.	.	.	.	T	0.75534	-0.3284	4	.	.	.	-15.2615	20.5632	0.99335	0.0:1.0:0.0:0.0	.	.	.	.	K	260	.	.	R	-	2	0	RYBP	72510399	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.776000	0.85560	2.937000	0.99478	0.650000	0.86243	AGA	RYBP-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000353762.3		-	ENST00000477973.2	Missense_Mutation	SNP	3 : 72427709 - 72427709 T PAAD-TCGA-HZ-A4BH-Tumor-SM-47KKJ	293	47
SEPSECS	51091	broad.mit.edu	37	4	25158572	25158572	+	Silent	SNP	G	G	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr4:25158572G>A	ENST00000382103.2	-	3	366	c.294C>T	c.(292-294)tcC>tcT	p.S98S	SEPSECS_ENST00000302922.3_Silent_p.S19S	NM_016955.3	NP_058651.3	Q9HD40	SPCS_HUMAN	Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase	98				S -> P (in Ref. 8; AAG00491).	selenocysteine incorporation	cytoplasm|nucleus	pyridoxal phosphate binding|transferase activity, transferring selenium-containing groups|tRNA binding			endometrium(1)|large_intestine(4)|lung(2)|stomach(1)	8		Breast(46;0.173)			Pyridoxal Phosphate(DB00114)	AAATATCACCGGATCGTCCAA	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		1,4405	2.1+/-5.4	0,1,2202	96	95	95		294	-10.2	0.4	4		95	1,8599		0,1,4299	no	coding-synonymous	SEPSECS	NM_016955.3		0,2,6501	AA,AG,GG	NA	0.0116,0.0227,0.0154		98/502	25158572	2,13004	2203	4300	6503	SO:0001819	synonymous_variant			AJ238617	CCDS3432.1, CCDS3432.2	4p15.2	2008-10-27			ENSG00000109618	ENSG00000109618	51091	51091			30605	protein-coding gene	gene with protein product	soluble liver antigen/liver pancreas antigen	613009			NA	16230358, 10931155, 17142313, 17194211	Standard	NM_016955	NM_016955	NA	Approved	SLA/LP, SLA	uc003grg.3	Q9HD40	OTTHUMG00000128563	ENST00000382103.2:c.294C>T	4.37:g.25158572G>A		NA	A8K8W1|Q0D2P3|Q17RT1|Q9NXZ5|Q9UGM9|Q9Y353	37	CCDS3432.2																																																																																			SEPSECS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250414.2		-	ENST00000382103.2	Silent	SNP	4 : 25158572 - 25158572 A PAAD-TCGA-HZ-A4BH-Tumor-SM-47KKJ	502	84
SKP2	6502	broad.mit.edu	37	5	36170522	36170522	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr5:36170522A>G	ENST00000274255.6	+	6	944	c.748A>G	c.(748-750)Act>Gct	p.T250A	SKP2_ENST00000274254.5_Missense_Mutation_p.T250A|SKP2_ENST00000546211.1_Missense_Mutation_p.T36A|SKP2_ENST00000508514.1_Intron	NM_005983.3	NP_005974.2	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2, E3 ubiquitin protein ligase	250					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle	nucleoplasm|SCF ubiquitin ligase complex	protein binding			breast(1)|central_nervous_system(2)|ovary(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGCCCTGCAGACTTTGCTAAG	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	99	100			NA	NA	5		NA											NA				36170522		2203	4300	6503	SO:0001583	missense			U33761	CCDS3915.1, CCDS3916.1, CCDS58944.1	5p13	2012-02-23	2012-02-23		ENSG00000145604	ENSG00000145604	6502	6502		F-boxes / Leucine-rich repeats	10901	protein-coding gene	gene with protein product		601436	S-phase kinase-associated protein 2 (p45)		NA	8646875	Standard	NM_005983	NM_005983	NA	Approved	FBXL1, FBL1, p45	uc003jkc.2	Q13309	OTTHUMG00000131106	ENST00000274255.6:c.748A>G	5.37:g.36170522A>G	ENSP00000274255:p.Thr250Ala	NA	A8K5E0|Q8TDZ0|Q8TDZ1|Q9BV69	37	CCDS3916.1	.	.	.	.	.	.	.	.	.	.	A	8.341	0.828751	0.16749	.	.	ENSG00000145604	ENST00000274254;ENST00000274255;ENST00000308927;ENST00000513151;ENST00000546211	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	5.53	3.19	0.36642	.	0.419284	0.28365	N	0.015605	T	0.31199	0.0789	L	0.37507	1.11	0.24045	N	0.996061	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.0	T	0.24083	-1.0170	10	0.07644	T	0.81	-7.1949	8.9256	0.35639	0.8857:0.0:0.1143:0.0	.	36;250;250	B4DJT4;Q13309-2;Q13309	.;.;SKP2_HUMAN	A	250;250;216;205;36	ENSP00000274254:T250A;ENSP00000274255:T250A;ENSP00000423188:T205A;ENSP00000443492:T36A	ENSP00000274254:T250A	T	+	1	0	SKP2	36206279	0.702000	0.27816	0.988000	0.46212	0.883000	0.51084	1.206000	0.32321	0.546000	0.28920	0.533000	0.62120	ACT	SKP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253769.2		+	ENST00000274255.6	Missense_Mutation	SNP	5 : 36170522 - 36170522 G PAAD-TCGA-HZ-A4BH-Tumor-SM-47KKJ	500	27
SLC16A10	117247	broad.mit.edu	37	6	111498424	111498424	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr6:111498424G>C	ENST00000368851.5	+	3	673	c.498G>C	c.(496-498)gaG>gaC	p.E166D	SLC16A10_ENST00000368850.3_5'UTR|SLC16A10_ENST00000465319.1_3'UTR	NM_018593.4	NP_061063.2	Q8TF71	MOT10_HUMAN	solute carrier family 16 (aromatic amino acid transporter), member 10	166					aromatic amino acid transport|cellular nitrogen compound metabolic process|ion transport	basolateral plasma membrane|integral to membrane	amino acid transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)	12		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)		GTTCCATCGAGCCTCTGTACC	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	74	73			NA	NA	6		NA											NA				111498424		2203	4300	6503	SO:0001583	missense			AF116652	CCDS5089.1	6q21-q22	2014-01-28	2013-07-18		ENSG00000112394	ENSG00000112394	117247	117247		Solute carriers	17027	protein-coding gene	gene with protein product		607550	solute carrier family 16 (monocarboxylic acid transporters), member 10		NA	11278508, 11827462	Standard		NM_018593	NA	Approved	TAT1, MCT10	uc003pus.3	Q8TF71	OTTHUMG00000015371	ENST00000368851.5:c.498G>C	6.37:g.111498424G>C	ENSP00000357844:p.Glu166Asp	NA	B3KWY0|Q6ZMG0|Q8WVI5	37	CCDS5089.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.30|12.30	1.897900|1.897900	0.33535|0.33535	.|.	.|.	ENSG00000112394|ENSG00000112394	ENST00000535637;ENST00000368851;ENST00000368853|ENST00000419619;ENST00000439288	T|.	0.37058|.	1.22|.	5.22|5.22	2.37|2.37	0.29283|0.29283	Major facilitator superfamily domain, general substrate transporter (1);|.	0.144833|.	0.64402|.	N|.	0.000008|.	T|T	0.43500|0.43500	0.1250|0.1250	M|M	0.64404|0.64404	1.975|1.975	0.80722|0.80722	D|D	1|1	P;D|.	0.56521|.	0.786;0.976|.	P;P|.	0.62298|.	0.76;0.9|.	T|T	0.42447|0.42447	-0.9451|-0.9451	10|5	0.19147|.	T|.	0.46|.	.|.	4.3484|4.3484	0.11143|0.11143	0.2966:0.0:0.542:0.1614|0.2966:0.0:0.542:0.1614	.|.	166;166|.	Q8TF71;Q05BR4|.	MOT10_HUMAN;.|.	D|T	166;166;57|52	ENSP00000357844:E166D|.	ENSP00000357844:E166D|.	E|S	+|+	3|2	2|0	SLC16A10|SLC16A10	111605117|111605117	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	0.672000|0.672000	0.25187|0.25187	0.653000|0.653000	0.30826|0.30826	0.563000|0.563000	0.77884|0.77884	GAG|AGC	SLC16A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041822.2		+	ENST00000368851.5	Missense_Mutation	SNP	6 : 111498424 - 111498424 C PAAD-TCGA-HZ-A4BH-Tumor-SM-47KKJ	492	48
TP53	7157	broad.mit.edu	37	17	7578526	7578526	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr17:7578526C>T	ENST00000420246.2	-	5	536	c.404G>A	c.(403-405)tGc>tAc	p.C135Y	TP53_ENST00000445888.2_Missense_Mutation_p.C135Y|TP53_ENST00000413465.2_Missense_Mutation_p.C135Y|TP53_ENST00000359597.4_Missense_Mutation_p.C135Y|TP53_ENST00000455263.2_Missense_Mutation_p.C135Y|TP53_ENST00000269305.4_Missense_Mutation_p.C135Y	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	135	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> T (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation; decreased E6-mediated binding to E6-AP).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C135Y(60)|p.C135F(43)|p.C135S(8)|p.0?(8)|p.C42Y(4)|p.C3Y(4)|p.C135fs*9(3)|p.N131fs*27(2)|p.C3F(2)|p.C42F(2)|p.F134_T140>S(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.C135T(1)|p.V73fs*9(1)|p.C135fs*15(1)|p.C135fs*14(1)|p.Y126fs*11(1)|p.C3fs*9(1)|p.C42fs*9(1)|p.C135_A138delCQLA(1)|p.C42S(1)|p.M133fs*13(1)|p.C3S(1)|p.C135_T140delCQLAKT(1)|p.Q136fs*13(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCCAGTTGGCAAAACATCTT	0.572		111	Mis, N, F		breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types	breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		L, E, M, O	152	Substitution - Missense(126)|Deletion - Frameshift(10)|Whole gene deletion(8)|Deletion - In frame(4)|Insertion - Frameshift(3)|Complex - deletion inframe(1)	large_intestine(19)|breast(17)|oesophagus(16)|haematopoietic_and_lymphoid_tissue(13)|urinary_tract(13)|upper_aerodigestive_tract(12)|prostate(11)|lung(9)|ovary(9)|liver(7)|bone(6)|stomach(5)|central_nervous_system(5)|soft_tissue(2)|autonomic_ganglia(2)|eye(1)|kidney(1)|pancreas(1)|skin(1)|NS(1)|pituitary(1)											50	50	50			NA	NA	17		NA											NA				7578526		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510	7157	7157			11998	protein-coding gene	gene with protein product	Li-Fraumeni syndrome	191170			NA	6396087, 3456488, 2047879	Standard	NM_000546	NM_001126115	NA	Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000420246.2:c.404G>A	17.37:g.7578526C>T	ENSP00000391127:p.Cys135Tyr	NA	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	37	CCDS45606.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.639320	0.87760	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99800	-6.8;-6.8;-6.8;-6.8;-6.8;-6.8;-6.8;-6.8;-6.8	5.48	5.48	0.80851	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99771	0.9906	M	0.85945	2.785	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.993;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.999;1.0;0.929;1.0;1.0;1.0;1.0	D	0.97312	0.9938	10	0.87932	D	0	-26.815	17.2272	0.86973	0.0:1.0:0.0:0.0	.	96;135;135;42;135;135;135	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	Y	135;135;135;135;135;135;124;42;3;42;3;135	ENSP00000410739:C135Y;ENSP00000352610:C135Y;ENSP00000269305:C135Y;ENSP00000398846:C135Y;ENSP00000391127:C135Y;ENSP00000391478:C135Y;ENSP00000425104:C3Y;ENSP00000423862:C42Y;ENSP00000424104:C135Y	ENSP00000269305:C135Y	C	-	2	0	TP53	7519251	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	7.772000	0.85439	2.733000	0.93635	0.655000	0.94253	TGC	TP53-005	KNOWN	NMD_exception|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367401.1		-	ENST00000420246.2	Missense_Mutation	SNP	17 : 7578526 - 7578526 T PAAD-TCGA-HZ-A4BH-Tumor-SM-47KKJ	249	41
TPO	7173	broad.mit.edu	37	2	1520713	1520713	+	Silent	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr2:1520713C>T	ENST00000345913.4	+	15	2668	c.2577C>T	c.(2575-2577)atC>atT	p.I859I	TPO_ENST00000346956.3_Silent_p.I815I|TPO_ENST00000382201.3_Silent_p.I802I|TPO_ENST00000337415.3_Silent_p.I859I|TPO_ENST00000329066.4_Silent_p.I859I|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000349624.3_Silent_p.I686I|TPO_ENST00000382198.1_Silent_p.I686I	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	859					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CTCTGCTGATCGGAGGCTTCG	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	72	73			NA	NA	2		NA											NA				1520713		2203	4300	6503	SO:0001819	synonymous_variant				CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	7173	7173	1.11.1.7		12015	protein-coding gene	gene with protein product		606765			NA		Standard	NM_000547	NM_175722	NA	Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.2577C>T	2.37:g.1520713C>T		NA	P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	37	CCDS1643.1	.	.	.	.	.	.	.	.	.	.	C	0.144	-1.099164	0.01843	.	.	ENSG00000115705	ENST00000446278	.	.	.	5.52	-5.29	0.02747	.	.	.	.	.	T	0.26702	0.0653	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.27088	-1.0084	4	.	.	.	-27.4266	6.7432	0.23447	0.0:0.3461:0.3029:0.3509	.	.	.	.	L	334	.	.	S	+	2	0	TPO	1499720	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.732000	0.00804	-1.770000	0.01295	-0.904000	0.02843	TCG	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206594.2		+	ENST00000345913.4	Silent	SNP	2 : 1520713 - 1520713 T PAAD-TCGA-HZ-A4BH-Tumor-SM-47KKJ	294	32
WDR47	22911	broad.mit.edu	37	1	109560150	109560150	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr1:109560150C>A	ENST00000369965.4	-	3	492	c.232G>T	c.(232-234)Gac>Tac	p.D78Y	WDR47_ENST00000361054.3_Intron|WDR47_ENST00000357672.3_Intron|WDR47_ENST00000400794.3_Missense_Mutation_p.D78Y|WDR47_ENST00000369962.3_Missense_Mutation_p.D78Y	NM_001142550.1|NM_001142551.1|NM_014969.5	NP_001136022.1|NP_001136023.1|NP_055784.3	O94967	WDR47_HUMAN	WD repeat domain 47	78	CTLH.									breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		CTTTTTTTGTCAAATTTTTCC	0.289		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	68	66			NA	NA	1		NA											NA				109560150		2203	4300	6503	SO:0001583	missense			AB020700	CCDS30787.1, CCDS44186.1, CCDS44187.1	1p13.3	2013-01-09			ENSG00000085433	ENSG00000085433	22911	22911		WD repeat domain containing	29141	protein-coding gene	gene with protein product		615734			NA	10048485	Standard	NM_014969	NM_014969	NA	Approved	KIAA0893	uc001dwl.3	O94967	OTTHUMG00000011734	ENST00000369965.4:c.232G>T	1.37:g.109560150C>A	ENSP00000358982:p.Asp78Tyr	NA	Q5TYV7|Q5TYV8|Q5TYV9|Q8IXT7|Q8IYU9	37	CCDS30787.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.564866	0.86439	.	.	ENSG00000085433	ENST00000400794;ENST00000369962;ENST00000369965;ENST00000530772;ENST00000529074;ENST00000528747	T;T;T	0.60171	0.23;0.25;0.21	5.97	5.97	0.96955	CTLH, C-terminal LisH motif (2);	0.000000	0.85682	D	0.000000	T	0.72003	0.3407	M	0.62723	1.935	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.87578	0.995;0.995;0.998	T	0.72510	-0.4271	10	0.87932	D	0	-14.641	20.4239	0.99064	0.0:1.0:0.0:0.0	.	78;78;78	A8MX09;O94967;O94967-3	.;WDR47_HUMAN;.	Y	78;78;78;78;5;78	ENSP00000383599:D78Y;ENSP00000358979:D78Y;ENSP00000358982:D78Y	ENSP00000358979:D78Y	D	-	1	0	WDR47	109361673	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.466000	0.80914	2.828000	0.97474	0.655000	0.94253	GAC	WDR47-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000032413.2		-	ENST00000369965.4	Missense_Mutation	SNP	1 : 109560150 - 109560150 A PAAD-TCGA-HZ-A4BH-Tumor-SM-47KKJ	405	54
ZNF267	10308	broad.mit.edu	37	16	31926313	31926313	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr16:31926313A>G	ENST00000300870.10	+	4	952	c.743A>G	c.(742-744)gAa>gGa	p.E248G		NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	248					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						AAATGTAAAGAATTTGAGGAA	0.303		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													27	29	28			NA	NA	16		NA											NA				31926313		2171	4259	6430	SO:0001583	missense			X78925	CCDS32440.1	16p11.2	2013-01-08			ENSG00000185947	ENSG00000185947	10308	10308		Zinc fingers, C2H2-type, -	13060	protein-coding gene	gene with protein product		604752			NA	7865130	Standard	NM_003414	NM_003414	NA	Approved	HZF2	uc002ecs.5	Q14586		ENST00000300870.10:c.743A>G	16.37:g.31926313A>G	ENSP00000300870:p.Glu248Gly	NA	A0JNZ9|Q8NE41|Q9NRJ0	37	CCDS32440.1	.	.	.	.	.	.	.	.	.	.	.	11.49	1.655457	0.29425	.	.	ENSG00000185947	ENST00000300870;ENST00000394846	T	0.17528	2.27	0.458	0.458	0.16670	.	.	.	.	.	T	0.16557	0.0398	M	0.63169	1.94	0.26123	N	0.980529	B	0.06786	0.001	B	0.01281	0.0	T	0.27571	-1.0070	9	0.87932	D	0	.	5.2013	0.15267	0.9999:0.0:1.0E-4:0.0	.	248	Q14586	ZN267_HUMAN	G	248;215	ENSP00000300870:E248G	ENSP00000300870:E248G	E	+	2	0	ZNF267	31833814	0.001000	0.12720	0.109000	0.21407	0.096000	0.18686	0.550000	0.23345	0.407000	0.25591	0.397000	0.26171	GAA	ZNF267-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000432446.2		+	ENST00000300870.10	Missense_Mutation	SNP	16 : 31926313 - 31926313 G PAAD-TCGA-HZ-A4BH-Tumor-SM-47KKJ	311	48
