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
AQPEP	0	broad.mit.edu	37	5	115327959	115327959	+	Silent	SNP	C	C	T			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:115327959C>T	ENST00000357872.4	+	5	1369	c.1245C>T	c.(1243-1245)caC>caT	p.H415H	AQPEP_ENST00000395528.2_5'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		415					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding				NA						TTGTCTCCCACGAGATTGGAC	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		1,4403	2.1+/-5.4	0,1,2201	128	134	132		1245	-4.2	0.9	5		132	0,8600		0,0,4300	no	coding-synonymous	AQPEP	NM_173800.4		0,1,6501	TT,TC,CC	NA	0.0,0.0227,0.0077		415/991	115327959	1,13003	2202	4300	6502	SO:0001819	synonymous_variant											NA	NA			NA							NA					NA						ENST00000357872.4:c.1245C>T	5.37:g.115327959C>T		NA	A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	37	CCDS4124.1																																																																																			AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250852.1		+	ENST00000357872.4	Silent	SNP	5 : 115327959 - 115327959 T PAAD-TCGA-HZ-7925-Tumor-SM-2NW7D	530	76
CENPT	80152	broad.mit.edu	37	16	67863789	67863789	+	Silent	SNP	G	G	C			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr16:67863789G>C	ENST00000562787.1	-	12	1613	c.1065C>G	c.(1063-1065)ccC>ccG	p.P355P	CENPT_ENST00000564817.1_Intron|CENPT_ENST00000440851.2_Silent_p.P355P|CENPT_ENST00000219172.3_Silent_p.P355P	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T	355					mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding	p.P355P(1)		NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		CTACCCTGCTGGGTCCTTGTG	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	lung(1)											272	282	279			NA	NA	16		NA											NA				67863789		2124	4247	6371	SO:0001819	synonymous_variant			AK056097	CCDS42182.1	16q22.1	2013-11-05	2006-06-15	2006-06-15		ENSG00000102901	80152	80152			25787	protein-coding gene	gene with protein product		611510	chromosome 16 open reading frame 56	C16orf56	NA	16622420, 16622419	Standard	NM_025082	NM_025082	NA	Approved	FLJ13111, CENP-T	uc002eun.4	Q96BT3		ENST00000562787.1:c.1065C>G	16.37:g.67863789G>C		NA	Q96I29|Q96IC6|Q96NK9|Q9H901	37	CCDS42182.1																																																																																			CENPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000422020.1		-	ENST00000562787.1	Silent	SNP	16 : 67863789 - 67863789 C PAAD-TCGA-HZ-7925-Tumor-SM-2NW7D	1417	187
CPEB4	80315	broad.mit.edu	37	5	173337529	173337529	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:173337529C>T	ENST00000265085.5	+	2	2583	c.1129C>T	c.(1129-1131)Cgc>Tgc	p.R377C	CPEB4_ENST00000522336.1_5'UTR|CPEB4_ENST00000520867.1_Missense_Mutation_p.R377C|CPEB4_ENST00000519835.1_Missense_Mutation_p.R377C|CPEB4_ENST00000517880.1_5'UTR|CPEB4_ENST00000334035.5_Missense_Mutation_p.R377C	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	377							nucleotide binding|RNA binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TCTACAGGATCGCCCCAGGAC	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	103	101			NA	NA	5		NA											NA				173337529		2203	4300	6503	SO:0001583	missense			BX538213	CCDS4390.1	5q21	2013-02-12			ENSG00000113742	ENSG00000113742	80315	80315		RNA binding motif (RRM) containing	21747	protein-coding gene	gene with protein product		610607			NA	11214970, 12672660	Standard	NM_030627	NM_030627	NA	Approved	KIAA1673	uc003mcs.4	Q17RY0	OTTHUMG00000130541	ENST00000265085.5:c.1129C>T	5.37:g.173337529C>T	ENSP00000265085:p.Arg377Cys	NA	B7ZLQ7|Q7Z310|Q8N405|Q9C0J0	37	CCDS4390.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.923383	0.92319	.	.	ENSG00000113742	ENST00000265085;ENST00000520867;ENST00000334035;ENST00000519835	T;T;T;T	0.61859	0.24;0.09;0.2;0.07	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.76278	0.3965	M	0.65498	2.005	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.71870	0.943;0.975;0.974;0.962	T	0.76217	-0.3040	10	0.87932	D	0	-13.1041	20.6593	0.99626	0.0:1.0:0.0:0.0	.	377;377;377;377	B7ZLQ8;Q17RY0-2;E5RJM0;Q17RY0	.;.;.;CPEB4_HUMAN	C	377	ENSP00000265085:R377C;ENSP00000429092:R377C;ENSP00000334533:R377C;ENSP00000429048:R377C	ENSP00000265085:R377C	R	+	1	0	CPEB4	173270135	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.832000	0.69337	2.885000	0.99019	0.655000	0.94253	CGC	CPEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252964.2		+	ENST00000265085.5	Missense_Mutation	SNP	5 : 173337529 - 173337529 T PAAD-TCGA-HZ-7925-Tumor-SM-2NW7D	622	92
CTSG	1511	broad.mit.edu	37	14	25043947	25043947	+	Silent	SNP	C	C	T			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr14:25043947C>T	ENST00000216336.2	-	3	309	c.273G>A	c.(271-273)gcG>gcA	p.A91A		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	91	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity	p.A91A(1)		autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		TGGCTCTGCGCGCAGTGATGT	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	urinary_tract(1)											211	169	183			NA	NA	14		NA											NA				25043947		2203	4300	6503	SO:0001819	synonymous_variant			M16117	CCDS9631.1	14q12	2013-02-25			ENSG00000100448	ENSG00000100448	1511	1511		Cathepsins, Endogenous ligands	2532	protein-coding gene	gene with protein product		116830			NA	2569462	Standard	NM_001911	NM_001911	NA	Approved	CG	uc001wpq.3	P08311	OTTHUMG00000140182	ENST00000216336.2:c.273G>A	14.37:g.25043947C>T		NA	Q6IBJ6|Q9UCA5|Q9UCU6	37	CCDS9631.1																																																																																			CTSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276536.2		-	ENST00000216336.2	Silent	SNP	14 : 25043947 - 25043947 T PAAD-TCGA-HZ-7925-Tumor-SM-2NW7D	502	111
DISC1	27185	broad.mit.edu	37	1	231830345	231830345	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:231830345G>A	ENST00000439617.2	+	2	894	c.841G>A	c.(841-843)Gca>Aca	p.A281T	DISC1_ENST00000539444.1_Missense_Mutation_p.A281T|DISC1_ENST00000537876.1_Missense_Mutation_p.A281T|DISC1_ENST00000317586.4_Missense_Mutation_p.A281T|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000602873.1_Intron|DISC1_ENST00000535983.1_Missense_Mutation_p.A281T|DISC1_ENST00000366633.3_Missense_Mutation_p.A281T|DISC1_ENST00000366636.4_Missense_Mutation_p.A281T|DISC1_ENST00000602281.1_Missense_Mutation_p.A281T|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	281	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)				GGCCCAGGCCGCAAGGAACAG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	53	52			NA	NA	1		NA											NA				231830345		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.841G>A	1.37:g.231830345G>A	ENSP00000403888:p.Ala281Thr	NA	C9J6D0|O75045|Q5VT44|Q5VT45|Q8IXJ0|Q8IXJ1|Q9BX19|Q9NRI3|Q9NRI4	37		.	.	.	.	.	.	.	.	.	.	G	0.711	-0.786971	0.02907	.	.	ENSG00000162946	ENST00000439617;ENST00000366637;ENST00000317586;ENST00000366636;ENST00000366638;ENST00000532576;ENST00000535983;ENST00000537876;ENST00000366633;ENST00000539444;ENST00000295051;ENST00000535944;ENST00000366632	T;T;T;T;T;T;T;T;T	0.14144	3.16;2.53;2.99;2.98;2.79;3.17;2.8;2.8;2.78	4.64	-6.62	0.01813	.	0.905177	0.09699	N	0.767312	T	0.02156	0.0067	N	0.01438	-0.865	0.09310	N	1	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.28880	0.001;0.089;0.089;0.226;0.033;0.041;0.089;0.089;0.033;0.089;0.001;0.093;0.013;0.089;0.015;0.093;0.093;0.015;0.093;0.093;0.001	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.16722	0.001;0.009;0.013;0.013;0.005;0.016;0.009;0.009;0.005;0.009;0.001;0.008;0.005;0.009;0.005;0.005;0.008;0.005;0.005;0.005;0.003	T	0.34403	-0.9830	10	0.02654	T	1	-0.1398	1.0607	0.01600	0.4317:0.1966:0.1615:0.2103	.	281;281;281;281;281;281;281;281;281;281;281;281;281;281;281;281;281;281;281;281;281	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;.;.	T	281;281;281;281;281;281;281;281;281;281;281;281;132	ENSP00000403888:A281T;ENSP00000320784:A281T;ENSP00000355596:A281T;ENSP00000443996:A281T;ENSP00000440909:A281T;ENSP00000355593:A281T;ENSP00000440953:A281T;ENSP00000295051:A281T;ENSP00000441193:A281T	ENSP00000295051:A281T	A	+	1	0	DISC1	229896968	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.175000	0.03102	-1.334000	0.02244	-1.019000	0.02448	GCA	DISC1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000092351.2		+	ENST00000439617.2	Missense_Mutation	SNP	1 : 231830345 - 231830345 A PAAD-TCGA-HZ-7925-Tumor-SM-2NW7D	409	33
GIT2	9815	broad.mit.edu	37	12	110397662	110397662	+	Silent	SNP	C	C	T			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr12:110397662C>T	ENST00000320063.9	-	12	1155	c.1089G>A	c.(1087-1089)tcG>tcA	p.S363S	GIT2_ENST00000361006.5_Silent_p.S363S|GIT2_ENST00000338373.5_Silent_p.S363S|TCHP_ENST00000550780.1_Intron|GIT2_ENST00000360185.4_Silent_p.S363S|GIT2_ENST00000547815.1_Silent_p.S363S|GIT2_ENST00000553118.1_Silent_p.S363S|GIT2_ENST00000551209.1_Silent_p.S362S|GIT2_ENST00000457474.2_Silent_p.S365S|GIT2_ENST00000356259.4_Silent_p.S363S|GIT2_ENST00000343646.5_Intron|GIT2_ENST00000355312.3_Silent_p.S363S|GIT2_ENST00000354574.4_Silent_p.S365S			Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 2	363					regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						CTTTTGAACCCGAGAGAGAAC	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	70	72			NA	NA	12		NA											NA				110397662		2203	4300	6503	SO:0001819	synonymous_variant			AF124491	CCDS9138.1, CCDS9139.1, CCDS44968.1, CCDS44969.1, CCDS55884.1	12q24.1	2013-01-10	2008-09-05			ENSG00000139436	9815	9815		ADP-ribosylation factor GTPase activating proteins, Ankyrin repeat domain containing	4273	protein-coding gene	gene with protein product		608564	G protein-coupled receptor kinase interactor 2		NA	9826657, 10896954	Standard	NM_057169	NM_139201	NA	Approved	KIAA0148	uc001tps.2	Q14161	OTTHUMG00000169313	ENST00000320063.9:c.1089G>A	12.37:g.110397662C>T		NA	Q86U59|Q96CI2|Q9BV91|Q9Y5V2	37																																																																																				GIT2-007	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000403420.1		-	ENST00000320063.9	Silent	SNP	12 : 110397662 - 110397662 T PAAD-TCGA-HZ-7925-Tumor-SM-2NW7D	207	18
HOXA3	3200	broad.mit.edu	37	7	27148069	27148069	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr7:27148069C>T	ENST00000396352.4	-	3	996	c.797G>A	c.(796-798)cGc>cAc	p.R266H	HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000317201.2_Missense_Mutation_p.R266H	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	266					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						CACGGGGCTGCGACTTGGAGA	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(136;1368 1743 5685 7935 50360)							NA				0													116	113	114			NA	NA	7		NA											NA				27148069		2203	4300	6503	SO:0001583	missense				CCDS5404.1	7p15.2	2011-06-20	2005-12-22		ENSG00000105997	ENSG00000105997	3200	3200		Homeoboxes / ANTP class : HOXL subclass	5104	protein-coding gene	gene with protein product		142954	homeo box A3	HOX1E, HOX1	NA	1973146, 1358459	Standard		XM_005249730	NA	Approved		uc011jzl.2	O43365	OTTHUMG00000023209	ENST00000396352.4:c.797G>A	7.37:g.27148069C>T	ENSP00000379640:p.Arg266His	NA	A4D181	37	CCDS5404.1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.964113	0.53507	.	.	ENSG00000105997	ENST00000396352;ENST00000317201;ENST00000396350	D;D	0.87256	-2.23;-2.23	5.56	5.56	0.83823	.	0.053164	0.64402	D	0.000001	D	0.84097	0.5397	L	0.52206	1.635	0.53688	D	0.999979	P	0.38300	0.626	B	0.32022	0.139	D	0.84641	0.0695	10	0.49607	T	0.09	.	19.5376	0.95260	0.0:1.0:0.0:0.0	.	266	O43365	HXA3_HUMAN	H	266;266;108	ENSP00000379640:R266H;ENSP00000324884:R266H	ENSP00000324884:R266H	R	-	2	0	HOXA3	27114594	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	3.592000	0.53993	2.620000	0.88729	0.655000	0.94253	CGC	HOXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000358708.2		-	ENST00000396352.4	Missense_Mutation	SNP	7 : 27148069 - 27148069 T PAAD-TCGA-HZ-7925-Tumor-SM-2NW7D	842	93
IFNL1	282618	broad.mit.edu	37	19	39787112	39787112	+	Silent	SNP	C	C	T			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr19:39787112C>T	ENST00000333625.2	+	1	148	c.51C>T	c.(49-51)gcC>gcT	p.A17A		NM_172140.1	NP_742152.1			interferon, lambda 1	NA											NA						TAGGCTTGGCCGTGGCAGGCC	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	88	91			NA	NA	19		NA											NA				39787112		2203	4300	6503	SO:0001819	synonymous_variant			AY129150	CCDS12531.1	19q13.13	2014-05-22	2012-11-26	2012-11-26	ENSG00000182393	ENSG00000182393	282618	282618		Interferons	18363	protein-coding gene	gene with protein product		607403	interleukin 29, interleukin 29 (interferon, lambda 1)	IL29	NA		Standard	NM_172140	NM_172140	NA	Approved	IL-29	uc002okv.3	Q8IU54		ENST00000333625.2:c.51C>T	19.37:g.39787112C>T		NA		37	CCDS12531.1																																																																																			IFNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000463834.1		+	ENST00000333625.2	Silent	SNP	19 : 39787112 - 39787112 T PAAD-TCGA-HZ-7925-Tumor-SM-2NW7D	452	53
KCNH1	3756	broad.mit.edu	37	1	211256132	211256132	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:211256132C>T	ENST00000367007.4	-	5	717	c.548G>A	c.(547-549)cGc>cAc	p.R183H	KCNH1_ENST00000271751.4_Missense_Mutation_p.R183H	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	183					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		CTCTGCCAGGCGGGAGTGCTT	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	112	118			NA	NA	1		NA											NA				211256132		2203	4300	6503	SO:0001583	missense			AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473	3756	3756		Potassium channels, Voltage-gated ion channels / Potassium channels	6250	protein-coding gene	gene with protein product		603305			NA	9738473, 16382104	Standard	NM_002238	NM_172362	NA	Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000367007.4:c.548G>A	1.37:g.211256132C>T	ENSP00000355974:p.Arg183His	NA	B1AQ26|O76035	37	CCDS31015.1	.	.	.	.	.	.	.	.	.	.	C	18.17	3.564274	0.65651	.	.	ENSG00000143473	ENST00000271751;ENST00000367007	D;D	0.98958	-5.21;-5.27	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	D	0.96806	0.8957	L	0.41710	1.295	0.80722	D	1	B;B	0.15141	0.008;0.012	B;B	0.14023	0.006;0.01	D	0.94651	0.7839	10	0.39692	T	0.17	.	17.6243	0.88090	0.0:1.0:0.0:0.0	.	183;183	Q14CL3;O95259	.;KCNH1_HUMAN	H	183	ENSP00000271751:R183H;ENSP00000355974:R183H	ENSP00000271751:R183H	R	-	2	0	KCNH1	209322755	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.383000	0.79741	2.477000	0.83638	0.561000	0.74099	CGC	KCNH1-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000088568.1		-	ENST00000367007.4	Missense_Mutation	SNP	1 : 211256132 - 211256132 T PAAD-TCGA-HZ-7925-Tumor-SM-2NW7D	743	168
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V	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>T	12.37:g.25398284C>A	ENSP00000308495:p.Gly12Val	NA	A8K8Z5|B0LPF9|P01118|Q96D10	37	CCDS8702.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	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 A PAAD-TCGA-HZ-7925-Tumor-SM-2NW7D	152	16
L1CAM	3897	broad.mit.edu	37	X	153135631	153135631	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chrX:153135631G>A	ENST00000370060.1	-	9	1060	c.871C>T	c.(871-873)Cag>Tag	p.Q291*	L1CAM_ENST00000370057.3_Nonsense_Mutation_p.Q291*|L1CAM_ENST00000538883.1_Nonsense_Mutation_p.Q293*|L1CAM_ENST00000361981.3_Nonsense_Mutation_p.Q286*|L1CAM_ENST00000543994.1_Nonsense_Mutation_p.Q293*|L1CAM_ENST00000370055.1_Nonsense_Mutation_p.Q286*|L1CAM_ENST00000361699.4_Nonsense_Mutation_p.Q291*	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	291	Ig-like C2-type 3.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TTGTGGTTCTGGTAGGTGACA	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													189	170	176			NA	NA	X		NA											NA				153135631		2203	4300	6503	SO:0001587	stop_gained			M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910	3897	3897		CD molecules, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	6470	protein-coding gene	gene with protein product		308840	antigen identified by monoclonal antibody R1	HSAS1, SPG1, HSAS, MASA, MIC5, S10	NA		Standard	NM_024003	NM_001278116	NA	Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.871C>T	X.37:g.153135631G>A	ENSP00000359077:p.Gln291*	NA	A0AV65|B2RMU7|Q8TA87	37	CCDS14733.1	.	.	.	.	.	.	.	.	.	.	G	37	6.085530	0.97271	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699	.	.	.	5.15	4.22	0.49857	.	0.222293	0.31210	N	0.008045	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	.	12.2623	0.54658	0.0:0.2934:0.7066:0.0	.	.	.	.	X	291;293;291;293;286;286;291	.	ENSP00000355380:Q291X	Q	-	1	0	L1CAM	152788825	0.838000	0.29461	1.000000	0.80357	0.908000	0.53690	0.530000	0.23036	2.283000	0.76528	0.529000	0.55759	CAG	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000061094.2		-	ENST00000370060.1	Nonsense_Mutation	SNP	X : 153135631 - 153135631 A PAAD-TCGA-HZ-7925-Tumor-SM-2NW7D	701	224
L3HYPDH	112849	broad.mit.edu	37	14	59946013	59946013	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr14:59946013C>T	ENST00000487285.1	-	2	252	c.52G>A	c.(52-54)Ggt>Agt	p.G18S	L3HYPDH_ENST00000247194.4_Missense_Mutation_p.G189S|RP11-701B16.2_ENST00000554253.1_RNA					L-3-hydroxyproline dehydratase (trans-)	NA											NA						TAAAATGCACCGCCATATGCA	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	85	87			NA	NA	14		NA											NA				59946013		2203	4300	6503	SO:0001583	missense			AI762327	CCDS9739.1	14q23.1	2012-08-15	2012-08-15	2012-08-15	ENSG00000126790	ENSG00000126790	112849	112849	4.2.1.77		20488	protein-coding gene	gene with protein product	trans-L-3-hydroxyproline dehydratase	614811	chromosome 14 open reading frame 149	C14orf149	NA	22528483	Standard	NM_144581	NM_144581	NA	Approved	FLJ25436	uc001xee.1	Q96EM0	OTTHUMG00000028941	ENST00000487285.1:c.52G>A	14.37:g.59946013C>T	ENSP00000431608:p.Gly18Ser	NA		37		.	.	.	.	.	.	.	.	.	.	C	35	5.596368	0.96602	.	.	ENSG00000126790	ENST00000247194;ENST00000487285;ENST00000481608	T;T;T	0.71341	-0.56;-0.56;-0.56	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.88669	0.6499	M	0.93720	3.45	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.91456	0.5185	10	0.87932	D	0	.	19.1044	0.93287	0.0:1.0:0.0:0.0	.	189	Q96EM0	PRCM_HUMAN	S	189;18;18	ENSP00000247194:G189S;ENSP00000431608:G18S;ENSP00000423874:G18S	ENSP00000247194:G189S	G	-	1	0	C14orf149	59015766	1.000000	0.71417	0.996000	0.52242	0.985000	0.73830	7.254000	0.78329	2.505000	0.84491	0.467000	0.42956	GGT	L3HYPDH-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000072258.3		-	ENST00000487285.1	Missense_Mutation	SNP	14 : 59946013 - 59946013 T PAAD-TCGA-HZ-7925-Tumor-SM-2NW7D	381	61
NAALAD2	10003	broad.mit.edu	37	11	89891358	89891358	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr11:89891358G>A	ENST00000525171.1	+	7	826				NAALAD2_ENST00000534061.1_Missense_Mutation_p.R281Q|NAALAD2_ENST00000321955.4_Missense_Mutation_p.R281Q|NAALAD2_ENST00000375944.3_Intron			Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	NA					proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				GGAATCCCCCGAATACCTGTA	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	120	118			NA	NA	11		NA											NA				89891358		2201	4299	6500	SO:0001627	intron_variant			AJ012370	CCDS8288.1, CCDS73364.1	11q14.3-q21	2011-08-16			ENSG00000077616	ENSG00000077616	10003	10003	3.4.17.21		14526	protein-coding gene	gene with protein product	glutamate carboxypeptidase III	611636			NA	10085079	Standard	NM_005467	NM_005467	NA	Approved	NAALADASE2, NAADALASE2, GPCIII	uc001pdf.4	Q9Y3Q0	OTTHUMG00000166368	ENST00000525171.1:c.797-5120G>A	11.37:g.89891358G>A		NA	B3KQR4|Q4VAM9	37		.	.	.	.	.	.	.	.	.	.	G	13.60	2.285494	0.40394	.	.	ENSG00000077616	ENST00000534061;ENST00000321955	T;T	0.41758	0.99;0.99	5.13	3.99	0.46301	.	0.797499	0.11731	N	0.534986	T	0.21801	0.0525	N	0.05414	-0.055	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.05084	-1.0907	9	.	.	.	0.2934	8.4175	0.32681	0.8469:0.0:0.1531:0.0	.	281;281	Q9Y3Q0;Q8IUX3	NALD2_HUMAN;.	Q	281	ENSP00000432481:R281Q;ENSP00000320083:R281Q	.	R	+	2	0	NAALAD2	89531006	0.968000	0.33430	0.443000	0.26883	0.982000	0.71751	3.300000	0.51834	0.919000	0.36945	-0.341000	0.08007	CGA	NAALAD2-006	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000394387.1		+	ENST00000525171.1	Intron	SNP	11 : 89891358 - 89891358 A PAAD-TCGA-HZ-7925-Tumor-SM-2NW7D	658	70
NCKAP5	344148	broad.mit.edu	37	2	133542683	133542683	+	Silent	SNP	G	G	A			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr2:133542683G>A	ENST00000409261.1	-	14	2074	c.1701C>T	c.(1699-1701)ggC>ggT	p.G567G	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Silent_p.G567G|NCKAP5_ENST00000409213.1_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	567							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CATGGCCTTGGCCCTGTGGGC	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	79	78			NA	NA	2		NA											NA				133542683		1994	4158	6152	SO:0001819	synonymous_variant			AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771	344148	344148			29847	protein-coding gene	gene with protein product	Nck associated protein 5, peripheral clock protein	608789			NA	9344857	Standard	NM_207481	NM_207363	NA	Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.1701C>T	2.37:g.133542683G>A		NA	B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	37	CCDS46418.1																																																																																			NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000331663.1		-	ENST00000409261.1	Silent	SNP	2 : 133542683 - 133542683 A PAAD-TCGA-HZ-7925-Tumor-SM-2NW7D	523	69
OR51F2	119694	broad.mit.edu	37	11	4843497	4843497	+	Missense_Mutation	SNP	T	T	G			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr11:4843497T>G	ENST00000322110.5	+	1	947	c.882T>G	c.(880-882)ttT>ttG	p.F294L	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	294					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCAATGTCTTTCTGCTAATCC	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													235	189	205			NA	NA	11		NA											NA				4843497		2201	4298	6499	SO:0001583	missense			BK004281	CCDS31361.1	11p15.4	2012-08-09			ENSG00000176925	ENSG00000176925	119694	119694		GPCR / Class A : Olfactory receptors	15197	protein-coding gene	gene with protein product					NA		Standard	NM_001004753	NM_001004753	NA	Approved		uc010qyn.2	Q8NH61	OTTHUMG00000066508	ENST00000322110.5:c.882T>G	11.37:g.4843497T>G	ENSP00000323952:p.Phe294Leu	NA	Q6IFI1	37	CCDS31361.1	.	.	.	.	.	.	.	.	.	.	T	15.12	2.739947	0.49045	.	.	ENSG00000176925	ENST00000322110	T	0.00036	8.86	4.71	3.79	0.43588	GPCR, rhodopsin-like superfamily (1);	0.179185	0.26684	U	0.023031	T	0.00210	0.0006	L	0.48642	1.525	0.09310	N	0.999996	P	0.43287	0.802	P	0.47251	0.542	T	0.46527	-0.9185	10	0.87932	D	0	.	11.1978	0.48724	0.0:0.907:0.0:0.093	.	294	Q8NH61	O51F2_HUMAN	L	294	ENSP00000323952:F294L	ENSP00000323952:F294L	F	+	3	2	OR51F2	4800073	0.000000	0.05858	0.928000	0.36995	0.619000	0.37552	-0.058000	0.11750	1.312000	0.45043	-0.366000	0.07423	TTT	OR51F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000142181.1		+	ENST00000322110.5	Missense_Mutation	SNP	11 : 4843497 - 4843497 G PAAD-TCGA-HZ-7925-Tumor-SM-2NW7D	563	26
PCDHA8	56140	broad.mit.edu	37	5	140222482	140222482	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:140222482G>A	ENST00000531613.1	+	1	1576	c.1576G>A	c.(1576-1578)Gag>Aag	p.E526K	PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.E526K|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018911.2	NP_061734.1			protocadherin alpha 8	NA										NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGGACCACGAGGAGCTAGA	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	79	75			NA	NA	5		NA											NA				140222482		2196	4265	6461	SO:0001583	missense			AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962	56140	56140		Cadherins / Protocadherins : Clustered	8674	other	complex locus constituent	KIAA0345-like 6	606314			NA	10380929	Standard	NM_018911	NM_018911	NA	Approved			Q9Y5H6		ENST00000531613.1:c.1576G>A	5.37:g.140222482G>A	ENSP00000434655:p.Glu526Lys	NA		37	CCDS54919.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.173878	0.78452	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.72394	-0.65;-0.65	3.72	3.72	0.42706	Cadherin (5);Cadherin-like (1);	0.000000	0.37053	U	0.002270	D	0.90614	0.7057	H	0.99169	4.455	0.43622	D	0.996001	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94761	0.7936	10	0.87932	D	0	.	15.5151	0.75818	0.0:0.0:1.0:0.0	.	526;526	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	K	526	ENSP00000434655:E526K;ENSP00000367363:E526K	ENSP00000367363:E526K	E	+	1	0	PCDHA8	140202666	1.000000	0.71417	1.000000	0.80357	0.246000	0.25737	9.188000	0.94921	1.790000	0.52503	0.306000	0.20318	GAG	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000372830.2		+	ENST00000531613.1	Missense_Mutation	SNP	5 : 140222482 - 140222482 A PAAD-TCGA-HZ-7925-Tumor-SM-2NW7D	1238	134
PHACTR1	221692	broad.mit.edu	37	6	13230385	13230385	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr6:13230385C>T	ENST00000379350.1	+	9	1480	c.1351C>T	c.(1351-1353)Cgg>Tgg	p.R451W	PHACTR1_ENST00000457702.2_Missense_Mutation_p.R306W|PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000332995.7_Missense_Mutation_p.R451W			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	451						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			GGATGAGGAGCGGCTGGAGCT	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	TRP/ARG,TRP/ARG	0,4100		0,0,2050	31	32	32		1351,1351	-1.6	0.8	6		32	1,8399		0,1,4199	no	missense,missense	PHACTR1	NM_030948.2,NM_001242648.1	101,101	0,1,6249	TT,TC,CC	NA	0.0119,0.0,0.0080	benign,benign	451/581,451/581	13230385	1,12499	2050	4200	6250	SO:0001583	missense			AB051520	CCDS75401.1	6p23	2013-01-24	2004-05-20	2004-05-21	ENSG00000112137	ENSG00000112137	221692	221692		Phosphatase and actin regulators	20990	protein-coding gene	gene with protein product		608723	RPEL repeat containing 1	RPEL1	NA	11214970, 15107502	Standard	XM_166420	NM_030948	NA	Approved	KIAA1733, dJ257A7.2	uc010jpc.3	Q9C0D0	OTTHUMG00000014270	ENST00000379350.1:c.1351C>T	6.37:g.13230385C>T	ENSP00000368655:p.Arg451Trp	NA	A8K1V2|Q3MJ93|Q5JSJ2	37		.	.	.	.	.	.	.	.	.	.	C	19.87	3.906594	0.72868	0.0	1.19E-4	ENSG00000112137	ENST00000379350;ENST00000332995;ENST00000432934;ENST00000457702	T;T;T	0.39406	1.08;1.14;1.23	5.47	-1.6	0.08426	.	0.000000	0.85682	D	0.000000	T	0.44993	0.1320	L	0.47716	1.5	0.80722	D	1	D;B;D	0.89917	1.0;0.274;1.0	D;B;D	0.83275	0.994;0.053;0.996	T	0.53774	-0.8391	10	0.59425	D	0.04	-14.544	17.6799	0.88240	0.3077:0.6923:0.0:0.0	.	520;451;451	E7ESR5;Q9C0D0;Q9C0D0-2	.;PHAR1_HUMAN;.	W	451;451;520;306	ENSP00000368655:R451W;ENSP00000329880:R451W;ENSP00000397669:R306W	ENSP00000329880:R451W	R	+	1	2	PHACTR1	13338364	0.983000	0.35010	0.846000	0.33378	0.987000	0.75469	0.326000	0.19646	-0.430000	0.07318	0.557000	0.71058	CGG	PHACTR1-001	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000039876.1		+	ENST00000379350.1	Missense_Mutation	SNP	6 : 13230385 - 13230385 T PAAD-TCGA-HZ-7925-Tumor-SM-2NW7D	102	13
RAB11FIP5	26056	broad.mit.edu	37	2	73302662	73302662	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr2:73302662C>G	ENST00000258098.6	-	5	2189	c.1949G>C	c.(1948-1950)gGc>gCc	p.G650A	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	650					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						TTTGGGGGGGCCCGGGGGGAT	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													38	46	43			NA	NA	2		NA											NA				73302662		2203	4300	6503	SO:0001583	missense			AF334812	CCDS1923.1	2p13	2008-02-05			ENSG00000135631	ENSG00000135631	26056	26056			24845	protein-coding gene	gene with protein product		605536			NA	10048485, 11163216	Standard	NM_015470	NM_015470	NA	Approved	GAF1, KIAA0857, RIP11, pp75	uc002sis.4	Q9BXF6	OTTHUMG00000129779	ENST00000258098.6:c.1949G>C	2.37:g.73302662C>G	ENSP00000258098:p.Gly650Ala	NA	O94939|Q9P0M1	37	CCDS1923.1	.	.	.	.	.	.	.	.	.	.	C	0.047	-1.263926	0.01433	.	.	ENSG00000135631	ENST00000258098	T	0.42900	0.96	4.38	-6.1	0.02138	.	0.606002	0.15908	N	0.238756	T	0.19287	0.0463	N	0.25647	0.755	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.05683	-1.0870	10	0.38643	T	0.18	0.2415	2.0902	0.03655	0.0996:0.3026:0.2525:0.3452	.	650	Q9BXF6	RFIP5_HUMAN	A	650	ENSP00000258098:G650A	ENSP00000258098:G650A	G	-	2	0	RAB11FIP5	73156170	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.912000	0.04046	-1.557000	0.01692	-1.090000	0.02178	GGC	RAB11FIP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251995.1		-	ENST00000258098.6	Missense_Mutation	SNP	2 : 73302662 - 73302662 G PAAD-TCGA-HZ-7925-Tumor-SM-2NW7D	428	29
RASGRF1	5923	broad.mit.edu	37	15	79296394	79296394	+	Silent	SNP	C	C	T	rs140968213		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr15:79296394C>T	ENST00000419573.3	-	16	2521	c.2247G>A	c.(2245-2247)tcG>tcA	p.S749S	RASGRF1_ENST00000394745.3_5'UTR|RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Silent_p.S733S	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	749	N-terminal Ras-GEF.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GGCTCGGTGACGATGTCTTGG	0.637		NA											C	1	5e-04	0.002	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	4e-04	0.95	EXOME	NA	NA	0.0013	SNP								NA				0								C	,,	0,4392		0,0,2196	54	56	55		2199,2247,	-8.7	0	15	dbSNP_134	55	1,8585	1.2+/-3.3	0,1,4292	no	coding-synonymous,coding-synonymous,utr-5	RASGRF1	NM_001145648.1,NM_002891.4,NM_153815.2	,,	0,1,6488	TT,TC,CC	NA	0.0116,0.0,0.0077	,,	733/1258,749/1274,	79296394	1,12977	2196	4293	6489	SO:0001819	synonymous_variant			M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335	5923	5923		Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing	9875	protein-coding gene	gene with protein product		606600		GRF1	NA	7684828, 1379731	Standard	NM_002891	NM_153815	NA	Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.2247G>A	15.37:g.79296394C>T		NA	Q16027	37	CCDS10309.1																																																																																			RASGRF1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000291371.3		-	ENST00000419573.3	Silent	SNP	15 : 79296394 - 79296394 T PAAD-TCGA-HZ-7925-Tumor-SM-2NW7D	557	62
SYT3	84258	broad.mit.edu	37	19	51133283	51133283	+	Silent	SNP	G	G	A			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr19:51133283G>A	ENST00000338916.4	-	3	1453	c.820C>T	c.(820-822)Ctg>Ttg	p.L274L	SYT3_ENST00000544769.1_Silent_p.L274L|SYT3_ENST00000600079.1_Silent_p.L274L|SYT3_ENST00000593901.1_Silent_p.L274L	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	274						cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		CCCTGGTACAGCTCTGGCTTA	0.677		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	19		NA											NA				51133283		2203	4300	6503	SO:0001819	synonymous_variant			AL136594	CCDS12798.1	19q13.33	2014-07-02			ENSG00000213023	ENSG00000213023	84258	84258		Synaptotagmins	11511	protein-coding gene	gene with protein product		600327			NA	7749232	Standard	NM_032298	NM_032298	NA	Approved		uc002psv.3	Q9BQG1	OTTHUMG00000183064	ENST00000338916.4:c.820C>T	19.37:g.51133283G>A		NA	Q8N5Z1|Q8N640	37	CCDS12798.1																																																																																			SYT3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464910.1		-	ENST00000338916.4	Silent	SNP	19 : 51133283 - 51133283 A PAAD-TCGA-HZ-7925-Tumor-SM-2NW7D	736	92
TLN2	83660	broad.mit.edu	37	15	62993388	62993388	+	Silent	SNP	G	G	A			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr15:62993388G>A	ENST00000561311.1	+	16	1901	c.1671G>A	c.(1669-1671)acG>acA	p.T557T	TLN2_ENST00000306829.6_Silent_p.T557T			Q9Y4G6	TLN2_HUMAN	talin 2	557					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CGGCCGGAACGGCTTCAGTTG	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	69	73			NA	NA	15		NA											NA				62993388		2203	4300	6503	SO:0001819	synonymous_variant			AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914	83660	83660			15447	protein-coding gene	gene with protein product		607349			NA	9205841, 11527381	Standard		NM_015059	NA	Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.1671G>A	15.37:g.62993388G>A		NA	A6NLB8	37	CCDS32261.1																																																																																			TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257878.2		+	ENST00000561311.1	Silent	SNP	15 : 62993388 - 62993388 A PAAD-TCGA-HZ-7925-Tumor-SM-2NW7D	302	44
TNXB	7148	broad.mit.edu	37	6	32046935	32046935	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr6:32046935C>T	ENST00000375244.3	-	11	4451	c.4250G>A	c.(4249-4251)cGt>cAt	p.R1417H	TNXB_ENST00000375247.2_Missense_Mutation_p.R1417H			P22105	TENX_HUMAN	tenascin XB	1504	Fibronectin type-III 6.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCCCCCAACACGCACCGCCCG	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	120	115			NA	NA	6		NA											NA				32046935		1305	2558	3863	SO:0001583	missense			X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477	7148	7148		Fibrinogen C domain containing, Fibronectin type III domain containing	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2	NA	8530023	Standard	NM_019105	NM_019105	NA	Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.4250G>A	6.37:g.32046935C>T	ENSP00000364393:p.Arg1417His	NA	P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	37		.	.	.	.	.	.	.	.	.	.	C	13.46	2.244413	0.39697	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.57752	0.38;0.38	5.52	4.64	0.57946	.	0.000000	0.41396	D	0.000889	T	0.34978	0.0916	M	0.67397	2.05	0.29740	N	0.837148	P	0.50617	0.937	P	0.47645	0.553	T	0.22382	-1.0218	10	0.13108	T	0.6	.	9.6088	0.39650	0.1602:0.6853:0.1545:0.0	.	1417	P22105-3	.	H	1417	ENSP00000364393:R1417H;ENSP00000364396:R1417H	ENSP00000364393:R1417H	R	-	2	0	TNXB	32154913	0.459000	0.25768	0.972000	0.41901	0.048000	0.14542	0.667000	0.25112	1.459000	0.47892	0.591000	0.81541	CGT	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000268927.2		-	ENST00000375244.3	Missense_Mutation	SNP	6 : 32046935 - 32046935 T PAAD-TCGA-HZ-7925-Tumor-SM-2NW7D	957	101
TP53	7157	broad.mit.edu	37	17	7578525	7578525	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr17:7578525G>T	ENST00000420246.2	-	5	537	c.405C>A	c.(403-405)tgC>tgA	p.C135*	TP53_ENST00000445888.2_Nonsense_Mutation_p.C135*|TP53_ENST00000413465.2_Nonsense_Mutation_p.C135*|TP53_ENST00000359597.4_Nonsense_Mutation_p.C135*|TP53_ENST00000455263.2_Nonsense_Mutation_p.C135*|TP53_ENST00000269305.4_Nonsense_Mutation_p.C135*	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.C135W(24)|p.0?(8)|p.C135*(7)|p.C135C(5)|p.C135fs*9(3)|p.N131fs*27(2)|p.Q136fs*13(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.C3W(1)|p.C42W(1)|p.C135_T140delCQLAKT(1)|p.Q136*(1)|p.C135_Q136insXXXXXX(1)|p.C135_Q136insX(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)		TGGCCAGTTGGCAAAACATCT	0.567		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	68	Substitution - Missense(27)|Deletion - Frameshift(9)|Substitution - Nonsense(8)|Whole gene deletion(8)|Substitution - coding silent(5)|Deletion - In frame(4)|Insertion - Frameshift(4)|Insertion - In frame(2)|Complex - deletion inframe(1)	urinary_tract(11)|lung(8)|breast(7)|central_nervous_system(6)|oesophagus(6)|ovary(6)|haematopoietic_and_lymphoid_tissue(5)|bone(4)|upper_aerodigestive_tract(3)|large_intestine(3)|stomach(2)|skin(2)|prostate(2)|thyroid(1)|liver(1)|pancreas(1)											51	51	51			NA	NA	17		NA											NA				7578525		2203	4300	6503	SO:0001587	stop_gained	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.405C>A	17.37:g.7578525G>T	ENSP00000391127:p.Cys135*	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	.	.	.	.	.	.	.	.	.	.	G	25.8	4.678815	0.88542	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	.	.	.	5.48	3.5	0.40072	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-26.815	10.0222	0.42051	0.1647:0.0:0.8353:0.0	.	.	.	.	X	135;135;135;135;135;135;124;42;3;42;3;135	.	ENSP00000269305:C135X	C	-	3	2	TP53	7519250	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	0.645000	0.24782	0.798000	0.33994	0.655000	0.94253	TGC	TP53-005	KNOWN	NMD_exception|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367401.1		-	ENST00000420246.2	Nonsense_Mutation	SNP	17 : 7578525 - 7578525 T PAAD-TCGA-HZ-7925-Tumor-SM-2NW7D	222	27
TRPM6	140803	broad.mit.edu	37	9	77423011	77423011	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr9:77423011C>T	ENST00000360774.1	-	14	1814	c.1577G>A	c.(1576-1578)cGc>cAc	p.R526H	TRPM6_ENST00000376864.4_Missense_Mutation_p.R526H|TRPM6_ENST00000361255.3_Missense_Mutation_p.R521H|TRPM6_ENST00000449912.2_Missense_Mutation_p.R521H|TRPM6_ENST00000376872.3_Missense_Mutation_p.R526H|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000451710.3_Missense_Mutation_p.R526H	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	526					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GTAGTTGCTGCGATATGCTCT	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													256	243	247			NA	NA	9		NA											NA				77423011		2203	4300	6503	SO:0001583	missense			AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121	140803	140803		Voltage-gated ion channels / Transient receptor potential cation channels	17995	protein-coding gene	gene with protein product		607009	hypomagnesemia, secondary hypocalcemia	HOMG, HSH	NA	10021370, 12032570, 16382100	Standard	NM_017662	NM_017662	NA	Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.1577G>A	9.37:g.77423011C>T	ENSP00000354006:p.Arg526His	NA	Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	37	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.924348	0.92319	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	T;T;T;T;T;T	0.75704	-0.96;-0.96;0.42;-0.96;-0.96;-0.96	5.74	5.74	0.90152	.	0.155279	0.64402	D	0.000012	D	0.84365	0.5456	M	0.73372	2.23	0.58432	D	0.999992	D;D;D	0.89917	0.999;1.0;0.993	D;D;P	0.68765	0.917;0.96;0.805	D	0.85613	0.1259	10	0.87932	D	0	.	14.1263	0.65222	0.0:0.9285:0.0:0.0715	.	526;526;521	Q9BX84-5;Q9BX84;Q9BX84-3	.;TRPM6_HUMAN;.	H	526;526;526;521;521;526;189;189	ENSP00000354006:R526H;ENSP00000407341:R526H;ENSP00000366068:R526H;ENSP00000396672:R521H;ENSP00000354962:R521H;ENSP00000366060:R526H	ENSP00000309693:R189H	R	-	2	0	TRPM6	76612831	0.999000	0.42202	0.995000	0.50966	0.988000	0.76386	4.079000	0.57613	2.715000	0.92844	0.655000	0.94253	CGC	TRPM6-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052693.1		-	ENST00000360774.1	Missense_Mutation	SNP	9 : 77423011 - 77423011 T PAAD-TCGA-HZ-7925-Tumor-SM-2NW7D	521	60
TTN	7273	broad.mit.edu	37	2	179621444	179621444	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr2:179621444T>C	ENST00000589042.1	-	46	10983	c.10759A>G	c.(10759-10761)Aca>Gca	p.T3587A	TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000360870.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T3416A|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3273							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCTCCTTTGTGAAAGAGGAA	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	74	75			NA	NA	2		NA											NA				179621444		1891	4112	6003	SO:0001583	missense			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	7273	7273		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	12403	protein-coding gene	gene with protein product		188840	cardiomyopathy, dilated 1G (autosomal dominant)	CMD1G	NA	2129545, 10051295	Standard	NM_133378	NM_003319	NA	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.10759A>G	2.37:g.179621444T>C	ENSP00000467141:p.Thr3587Ala	NA	E7ET18	37	CCDS59435.1	.	.	.	.	.	.	.	.	.	.	T	12.01	1.808778	0.31961	.	.	ENSG00000155657	ENST00000342175	T	0.61392	0.11	5.8	4.62	0.57501	.	.	.	.	.	T	0.46639	0.1403	.	.	.	0.80722	D	1	B	0.09022	0.002	B	0.09377	0.004	T	0.44498	-0.9324	8	0.87932	D	0	.	6.238	0.20774	0.1425:0.0743:0.0:0.7832	.	3416	E7ET18	.	A	3416	ENSP00000340554:T3416A	ENSP00000340554:T3416A	T	-	1	0	TTN	179329689	1.000000	0.71417	0.996000	0.52242	0.913000	0.54294	1.923000	0.40055	0.993000	0.38866	0.533000	0.62120	ACA	TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Missense_Mutation	SNP	2 : 179621444 - 179621444 C PAAD-TCGA-HZ-7925-Tumor-SM-2NW7D	244	29
USH2A	7399	broad.mit.edu	37	1	216498693	216498693	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:216498693T>C	ENST00000307340.3	-	6	1483	c.1097A>G	c.(1096-1098)aAt>aGt	p.N366S	USH2A_ENST00000366942.3_Missense_Mutation_p.N366S|USH2A_ENST00000366943.2_Missense_Mutation_p.N366S	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	366	Laminin N-terminal.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CACTCCTTGATTAAGCTGTGT	0.363		NA								HNSCC(13;0.011)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	104	108			NA	NA	1		NA											NA				216498693		2203	4300	6503	SO:0001583	missense			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781	7399	7399		Fibronectin type III domain containing	12601	protein-coding gene	gene with protein product	usherin	608400		USH2	NA	9624053, 10729113	Standard	NM_007123	NM_007123	NA	Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.1097A>G	1.37:g.216498693T>C	ENSP00000305941:p.Asn366Ser	NA	Q5VVM9|Q6S362|Q9NS27	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	T	9.139	1.013265	0.19277	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.19806	2.55;2.54;2.12	5.36	4.23	0.50019	Laminin, N-terminal (3);	0.963531	0.08481	N	0.939588	T	0.19485	0.0468	L	0.45228	1.405	0.09310	N	1	B;B	0.11235	0.004;0.001	B;B	0.08055	0.003;0.002	T	0.35773	-0.9775	10	0.15066	T	0.55	.	11.0938	0.48132	0.0:0.0725:0.0:0.9275	.	366;366	O75445-2;O75445	.;USH2A_HUMAN	S	366	ENSP00000305941:N366S;ENSP00000355910:N366S;ENSP00000355909:N366S	ENSP00000305941:N366S	N	-	2	0	USH2A	214565316	0.222000	0.23652	0.040000	0.18447	0.877000	0.50540	3.185000	0.50934	0.880000	0.35969	0.528000	0.53228	AAT	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000128138.1		-	ENST00000307340.3	Missense_Mutation	SNP	1 : 216498693 - 216498693 C PAAD-TCGA-HZ-7925-Tumor-SM-2NW7D	515	57
ZC3H11A	9877	broad.mit.edu	37	1	203798664	203798664	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:203798664G>T	ENST00000545588.1	+	5	4211	c.384G>T	c.(382-384)caG>caT	p.Q128H	ZC3H11A_ENST00000367212.3_Missense_Mutation_p.Q128H|ZC3H11A_ENST00000367210.1_Missense_Mutation_p.Q128H|ZC3H11A_ENST00000332127.4_Missense_Mutation_p.Q128H|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.Q128H	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	128							nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TGTCTGTCCAGTCCAATCCTT	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	80	81			NA	NA	1		NA											NA				203798664		2203	4297	6500	SO:0001583	missense				CCDS30978.1	1q32.1	2012-07-05	2005-06-02	2005-06-02	ENSG00000058673	ENSG00000058673	9877	9877		Zinc fingers, CCCH-type domain containing	29093	protein-coding gene	gene with protein product		613513	zinc finger CCCH-type domain containing 11A	ZC3HDC11A	NA	9734811	Standard	NM_014827	NM_014827	NA	Approved	KIAA0663	uc001hac.3	O75152	OTTHUMG00000035909	ENST00000545588.1:c.384G>T	1.37:g.203798664G>T	ENSP00000438527:p.Gln128His	NA	Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	37	CCDS30978.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.819026	0.90873	.	.	ENSG00000058673	ENST00000453771;ENST00000367214;ENST00000537080;ENST00000367212;ENST00000332127;ENST00000545588;ENST00000367210	T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76	5.87	5.87	0.94306	.	0.238543	0.43416	D	0.000563	T	0.65460	0.2693	L	0.55481	1.735	0.47737	D	0.999509	D	0.89917	1.0	D	0.78314	0.991	T	0.63800	-0.6555	10	0.59425	D	0.04	-26.9465	17.4969	0.87720	0.0:0.0:1.0:0.0	.	128	O75152	ZC11A_HUMAN	H	128;128;74;128;128;128;128	ENSP00000356183:Q128H;ENSP00000356181:Q128H;ENSP00000333253:Q128H;ENSP00000438527:Q128H;ENSP00000356179:Q128H	ENSP00000333253:Q128H	Q	+	3	2	ZC3H11A	202065287	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.089000	0.30890	2.941000	0.99782	0.655000	0.94253	CAG	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000087471.3		+	ENST00000545588.1	Missense_Mutation	SNP	1 : 203798664 - 203798664 T PAAD-TCGA-HZ-7925-Tumor-SM-2NW7D	697	56
